MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: DNA Repair-Deficiency Disorders (D049914)
..Starting node ..Nijmegen Breakage Syndrome (D049932)
Child Nodes:
Sister Nodes:
..Ataxia Telangiectasia (D001260) 6
..Bloom Syndrome (D001816)
..Cockayne Syndrome (D003057) 6
..Colorectal Neoplasms, Hereditary Nonpolyposis (D003123) 10
..Fanconi Anemia (D005199) 13
..IMMUNODEFICIENCY 54 (OMIM:609981)
..Li-Fraumeni Syndrome (D016864) 4
..N syndrome (C536108)
..Nijmegen Breakage Syndrome (D049932) 1
..Nijmegen Breakage Syndrome-Like Disorder (C567767)
..Rothmund-Thomson Syndrome (D011038) 5
..Severe Combined Immunodeficiency (D016511) 22 C:1
..Werner Syndrome (D014898) 1
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8932

Name:

Nijmegen Breakage Syndrome

Definition:

A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.

Alternative IDs:

DO:DOID:7400|OMIM:251260

ParentIDs:

MESH:D049914

TreeNumbers:

C18.452.284.600

Synonyms:

Slim Mappings:

Metabolic disease

Reference:

MedGen: D049932
MeSH: D049932
OMIM: 251260;
MSeqDR :
Genes: NBN;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001890	Autoimmune hemolytic anemia
3	HP:0002023	Anal atresia
4	HP:0002025	Anal stenosis
5	HP:0010976	B lymphocytopenia
6	HP:0002110	Bronchiectasis
7	HP:0000957	Cafe-au-lait spot
8	HP:0000453	Choanal atresia
9	HP:0000175	Cleft palate
10	HP:0000204	Cleft upper lip
11	HP:0005403	Decrease in T cell count
12	HP:0002014	Diarrhea
13	HP:0002961	Dysgammaglobulinemia
14	HP:0009733	Glioma
15	HP:0000126	Hydronephrosis
16	HP:0000752	Hyperactivity
17	HP:0001249	Intellectual disability
18	HP:0001511	Intrauterine growth retardation
19	HP:0003189	Long nose
20	HP:0002665	Lymphoma
21	HP:0000400	Macrotia
22	HP:0010620	Malar prominence
23	HP:0000265	Mastoiditis
24	HP:0002885	Medulloblastoma
25	HP:0000252	Microcephaly
26	HP:0000347	Micrognathia
27	HP:0002180	Neurodegeneration
28	HP:0000388	Otitis media
29	HP:0008209	Premature ovarian insufficiency
30	HP:0005602	Progressive vitiligo
31	HP:0002837	Recurrent bronchitis
32	HP:0004798	Recurrent infection of the gastrointestinal tract
33	HP:0006532	Recurrent pneumonia
34	HP:0000010	Recurrent urinary tract infections
35	HP:0002859	Rhabdomyosarcoma
36	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
37	HP:0000246	Sinusitis
38	HP:0000340	Sloping forehead
39	HP:0001873	Thrombocytopenia
40	HP:0000582	Upslanted palpebral fissure

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000008.11:g.(?_89921080)_(89984561_?)del	4683	NBN	Pathogenic	-1	RCV000708126;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90933308	90996789		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NC_000008.10:g.(?_90944564)_(90997899_?)dup	4683	NBN	Uncertain significance	-1	RCV001304491;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90944564	90997899	-1	-
NM_002485.4(NBN):c.*2252T>A	4683	NBN	Uncertain significance	1002146586	RCV001159747;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90945558	90945558	8:g.90945558A>T	-
NC_000008.10:g.(?_90945564)_(90971082_?)dup	4683	NBN	Uncertain significance	-1	RCV000471493;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90945564	90971082		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*2212G>A	4683	NBN	Benign	10464867	RCV000284864;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90945598	90945598	NC_000008.10:g.90945598C>T	ClinGen:CA10631625	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*2206C>T	4683	NBN	Uncertain significance	547081912	RCV001159748;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90945604	90945604	8:g.90945604G>A	-
NM_002485.5(NBN):c.*2188T>C	4683	NBN	Uncertain significance	190894937	RCV001159749;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90945622	90945622	8:g.90945622A>G	-
NM_002485.5(NBN):c.*2129G>T	4683	NBN	Likely benign	117807915	RCV001159750;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90945681	90945681	8:g.90945681C>A	-
NM_002485.5(NBN):c.*2059A>C	4683	NBN	Uncertain significance	755199398	RCV001159751;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90945751	90945751	8:g.90945751T>G	-
NM_002485.5(NBN):c.*1977T>C	4683	NBN	Benign	14448	RCV000341427;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90945833	90945833	NC_000008.10:g.90945833A>G	ClinGen:CA10631718	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*1961T>C	4683	NBN	Benign	13312987	RCV000397384;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90945849	90945849	NC_000008.10:g.90945849A>G	ClinGen:CA10631720	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1869_1872del	4683	NBN	Uncertain significance	886063163	RCV000278275;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90945938	90945941	NC_000008.10:g.90945940_90945943del	ClinGen:CA10625882	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*1823T>C	4683	NBN	Uncertain significance	556606685	RCV000335711;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90945987	90945987	NC_000008.10:g.90945987A>G	ClinGen:CA10631631	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*1754T>C	4683	NBN	Benign	9995	RCV000397319;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946056	90946056	NC_000008.10:g.90946056A>G	ClinGen:CA10628373	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*1692A>G	4683	NBN	Benign	13312986	RCV000300605;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946118	90946118	NC_000008.10:g.90946118T>C	ClinGen:CA10628374	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*1642A>G	4683	NBN	Uncertain significance	769415813	RCV001161154;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946168	90946168	8:g.90946168T>C	-
NM_002485.5(NBN):c.*1583G>A	4683	NBN	Likely benign	139384734	RCV001161155;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946227	90946227	8:g.90946227C>T	-
NM_002485.5(NBN):c.*1562A>G	4683	NBN	Uncertain significance	1809551804	RCV001161156;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946248	90946248	8:g.90946248T>C	-
NM_002485.5(NBN):c.*1400C>T	4683	NBN	Uncertain significance	532490798	RCV001161157;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946410	90946410	8:g.90946410G>A	-
NM_002485.5(NBN):c.*1297T>G	4683	NBN	Uncertain significance	547479870	RCV001161158;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946513	90946513	8:g.90946513A>C	-
NM_002485.5(NBN):c.*1287A>G	4683	NBN	Uncertain significance	989124878	RCV001162710;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946523	90946523	8:g.90946523T>C	-
NM_002485.5(NBN):c.*1267A>G	4683	NBN	Uncertain significance	1356012750	RCV001162711;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946543	90946543	8:g.90946543T>C	-
NM_002485.5(NBN):c.*1222A>C	4683	NBN	Likely benign	13312985	RCV001162712;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946588	90946588	8:g.90946588T>G	-
NM_002485.5(NBN):c.*1220C>G	4683	NBN	Uncertain significance	1040887182	RCV001162713;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946590	90946590	8:g.90946590G>C	-
NM_002485.5(NBN):c.*1209A>C	4683	NBN	Benign	1063054	RCV000366927;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946601	90946601	NC_000008.10:g.90946601T>G	ClinGen:CA10628375	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*1013G>A	4683	NBN	Benign	13312984	RCV000399876;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946797	90946797	NC_000008.10:g.90946797C>T	ClinGen:CA10631632	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*987T>G	4683	NBN	Conflicting interpretations of pathogenicity	78935210	RCV000313620\|RCV003422362;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90946823	90946823	NC_000008.10:g.90946823A>C	ClinGen:CA10628378	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*983G>A	4683	NBN	Uncertain significance	13312983	RCV000370630;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946827	90946827	NC_000008.10:g.90946827C>T	ClinGen:CA10631638	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*937T>C	4683	NBN	Benign	11987865	RCV000269052;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946873	90946873	NC_000008.10:g.90946873A>G	ClinGen:CA10631648	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*829T>A	4683	NBN	Uncertain significance	752958453	RCV001164771;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90946981	90946981	8:g.90946981A>T	-
NM_002485.5(NBN):c.*790T>G	4683	NBN	Benign	11987887	RCV000326439;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947020	90947020	NC_000008.10:g.90947020A>C	ClinGen:CA10625883	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*757A>G	4683	NBN	Benign	13312981	RCV000364888;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947053	90947053	NC_000008.10:g.90947053T>C	ClinGen:CA10625888	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*680A>G	4683	NBN	Uncertain significance	1809594322	RCV001164772;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947130	90947130	8:g.90947130T>C	-
NM_002485.5(NBN):c.*638G>A	4683	NBN	Uncertain significance	976356195	RCV001164773;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947172	90947172	8:g.90947172C>T	-
NM_002485.5(NBN):c.*541G>C	4683	NBN	Benign	2735383	RCV000272651;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947269	90947269	NC_000008.10:g.90947269C>G	ClinGen:CA10631736	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NC_000008.11:g.(?_89935041)_(90051917_?)dup	4683	NBN	Uncertain significance	-1	RCV001033505;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947269	91064145	-1	-
NM_002485.5(NBN):c.*522T>C	4683	NBN	Uncertain significance	886063164	RCV000320788;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947288	90947288	NC_000008.10:g.90947288A>G	ClinGen:CA10631740	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*504A>G	4683	NBN	Uncertain significance	3780123	RCV001159854;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947306	90947306	8:g.90947306T>C	-
NM_002485.5(NBN):c.*485A>G	4683	NBN	Uncertain significance	886063165	RCV000377744;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947325	90947325	NC_000008.10:g.90947325T>C	ClinGen:CA10625891	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*419C>T	4683	NBN	Benign	13312979	RCV000286811;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947391	90947391	NC_000008.10:g.90947391G>A	ClinGen:CA10625892	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*401C>G	4683	NBN	Conflicting interpretations of pathogenicity	104895030	RCV000114873\|RCV000316124;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947409	90947409	8:g.90947409G>C	ClinGen:CA230725	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.364_393del	4683	NBN	Uncertain significance	1554553737	RCV000674120;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947417	90947446	8:g.90947417_90947446del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*352C>G	4683	NBN	Uncertain significance	13312978	RCV001159855;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947458	90947458	8:g.90947458G>C	-
NM_002485.5(NBN):c.*273G>A	4683	NBN	Benign	1063053	RCV000373039\|RCV001712767;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90947537	90947537	NC_000008.10:g.90947537C>T	ClinGen:CA10631649	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*226T>C	4683	NBN	Uncertain significance	886063166	RCV000280861;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947584	90947584	NC_000008.10:g.90947584A>G	ClinGen:CA10631742	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.*123T>A	4683	NBN	Uncertain significance	886063167	RCV000338166;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947687	90947687	NC_000008.10:g.90947687A>T	ClinGen:CA10631744	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NC_000008.11:g.(?_89935572)_(89984571_?)del	4683	NBN	Pathogenic	-1	RCV000708452;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947800	90996799		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NC_000008.10:g.(?_90947800)_(90996799_?)dup	4683	NBN	Uncertain significance	-1	RCV000708103;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947800	90996799		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NC_000008.10:g.(?_90947800)_(90971092_?)dup	4683	NBN	Uncertain significance	-1	RCV000813347;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947800	90971092		-
NC_000008.11:g.(?_89935572)_(89964517_?)dup	4683	NBN	Uncertain significance	-1	RCV001031886;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947800	90976745	-1	-
NC_000008.11:g.(?_89935576)_(89937081_?)del	4683	NBN	Likely pathogenic	-1	RCV000546060;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947804	90949309		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NC_000008.10:g.(?_90947804)_(90996795_?)dup	4683	NBN	Uncertain significance	-1	RCV000558454;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947804	90996795		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NC_000008.10:g.(?_90947804)_(90955600_?)dup	4683	NBN	Uncertain significance	-1	RCV000636823;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947804	90955600		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NC_000008.11:g.(?_89935576)_(89981529_?)del	4683	NBN	Pathogenic	-1	RCV000636822;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947804	90993757		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.4(NBN):c.2185-?_*(1_?)del	4683	NBN	Likely pathogenic	-1	RCV000195535;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947809	90949303		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NC_000008.11:g.(?_89935582)_(89937085_?)del	4683	NBN	Likely pathogenic	-1	RCV001033224;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947810	90949313	-1	-
NC_000008.11:g.(?_89935582)_(89958864_?)dup	4683	NBN	Uncertain significance	-1	RCV001033777;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947810	90971092	-1	-
NC_000008.11:g.(?_89935582)_(89984561_?)del	4683	NBN	Pathogenic	-1	RCV001033478;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947810	90996789	-1	-
NC_000008.11:g.(?_89935582)_(89984561_?)dup	4683	NBN	Uncertain significance	-1	RCV001031060;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947810	90996789	-1	-
NC_000008.10:g.(?_90947810)_(90967793_?)dup	4683	NBN	Uncertain significance	-1	RCV002020657;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947810	90967793	-1	-
NC_000008.10:g.(?_90947810)_(90960130_?)del	4683	NBN	Likely pathogenic	-1	RCV003107696;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947810	90960130		-
NC_000008.10:g.(?_90947810)_(90958533_?)dup	4683	NBN	Uncertain significance	-1	RCV003107702;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947810	90958533		-
NC_000008.10:g.(?_90947810)_(90976745_?)dup	4683	NBN	Uncertain significance	-1	RCV003107703;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947810	90976745		-
NM_002485.5(NBN):c.2260A>C (p.Arg754=)	4683	NBN	Conflicting interpretations of pathogenicity	2130735641	RCV001771302\|RCV002540531;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947815	90947815	90947815	-
NM_002485.5(NBN):c.2260A>G (p.Arg754Gly)	4683	NBN	Uncertain significance	-1	RCV002690929;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947815	90947815	NC_000008.10:g.90947815T>C	-
NM_002485.5(NBN):c.2259A>G (p.Arg753=)	4683	NBN	Likely benign	765391308	RCV001490803;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947816	90947816	90947816	-
NM_002485.5(NBN):c.2258G>C (p.Arg753Thr)	4683	NBN	Uncertain significance	773020664	RCV000403315;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947817	90947817	NC_000008.10:g.90947817C>G	ClinGen:CA10631746	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2258G>A (p.Arg753Lys)	4683	NBN	Uncertain significance	773020664	RCV000685557;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947817	90947817	8:g.90947817C>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2256_2258del (p.Arg754del)	4683	NBN	Uncertain significance	1809632212	RCV001313010\|RCV002447325;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90947817	90947819	90947816	-
NM_002485.5(NBN):c.2256del (p.Arg753fs)	4683	NBN	Uncertain significance	1809632346	RCV001058000;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947819	90947819	8:g.90947819_90947819del	-
NM_002485.5(NBN):c.2255G>C (p.Arg752Thr)	4683	NBN	Uncertain significance	-1	RCV002443621\|RCV003098754;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947820	90947820	90947820	-
NM_002485.5(NBN):c.2250A>T (p.Leu750Phe)	4683	NBN	Uncertain significance	1554553868	RCV000529264\|RCV002448665;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90947825	90947825	NC_000008.10:g.90947825T>A	ClinGen:CA371674690	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2247T>C (p.Tyr749=)	4683	NBN	Benign/Likely benign	762740478	RCV000162748\|RCV000553270\|RCV001582638\|RCV001651031\|RCV003315983;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontolog	8	90947828	90947828	8:g.90947828A>G	ClinGen:CA186866	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2246A>T (p.Tyr749Phe)	4683	NBN	Uncertain significance	864622446	RCV000205239\|RCV000219183;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90947829	90947829	8:g.90947829T>A	ClinGen:CA349423	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2244T>A (p.Pro748=)	4683	NBN	Likely benign	1554553884	RCV000636816\|RCV002420714;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90947831	90947831	NC_000008.10:g.90947831A>T	ClinGen:CA461836238	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2242C>T (p.Pro748Ser)	4683	NBN	Uncertain significance	1809633675	RCV001337785;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947833	90947833	90947833	-
NM_002485.5(NBN):c.2240A>G (p.Asn747Ser)	4683	NBN	Uncertain significance	766237464	RCV000545104\|RCV000564498\|RCV000985875;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90947835	90947835	8:g.90947835T>C	ClinGen:CA4802561	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2240A>T (p.Asn747Ile)	4683	NBN	Uncertain significance	766237464	RCV001236948\|RCV002430012;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90947835	90947835	8:g.90947835T>A	-
NM_002485.5(NBN):c.2239A>G (p.Asn747Asp)	4683	NBN	Uncertain significance	-1	RCV003038671;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947836	90947836	NC_000008.10:g.90947836T>C	-
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)	4683	NBN	Conflicting interpretations of pathogenicity	751570713	RCV000564630\|RCV000578737\|RCV000698449;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947837	90947837	NC_000008.10:g.90947837G>T	ClinGen:CA4802562	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2238C>G (p.Tyr746Ter)	4683	NBN	Likely pathogenic	751570713	RCV000670725;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947837	90947837	8:g.90947837G>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2238C>T (p.Tyr746=)	4683	NBN	Likely benign	751570713	RCV001432171;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947837	90947837	90947837	-
NM_002485.5(NBN):c.2237A>G (p.Tyr746Cys)	4683	NBN	Uncertain significance	1554553893	RCV000565543\|RCV001858118;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947838	90947838	NC_000008.10:g.90947838T>C	ClinGen:CA371674719	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2235A>G (p.Arg745=)	4683	NBN	Conflicting interpretations of pathogenicity	754865465	RCV000581635\|RCV001853930;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947840	90947840	8:g.90947840T>C	ClinGen:CA4802563	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2235-2A>G	4683	NBN	Conflicting interpretations of pathogenicity	767094704	RCV000669126\|RCV003303097;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90947842	90947842	8:g.90947842T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2235-3C>T	4683	NBN	Uncertain significance	1554553897	RCV000568874\|RCV000759175\|RCV001800778;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947843	90947843	NC_000008.10:g.90947843G>A	ClinGen:CA658657781	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2235-5T>G	4683	NBN	Likely benign	2130735796	RCV001402461;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947845	90947845	90947845	-
NM_002485.5(NBN):c.2235-8_2235-5del	4683	NBN	Likely benign	2130735801	RCV002140202;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947845	90947848	90947844	-
NM_002485.5(NBN):c.2235-8C>T	4683	NBN	Likely benign	369037495	RCV000461235\|RCV000605954;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90947848	90947848	NC_000008.10:g.90947848G>A	ClinGen:CA4802565	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2235-9T>C	4683	NBN	Likely benign	1162154079	RCV001406502;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947849	90947849	8:g.90947849A>G	-
NM_002485.5(NBN):c.2235-11T>C	4683	NBN	Likely benign	-1	RCV002741729;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947851	90947851	NC_000008.10:g.90947851A>G	-
NM_002485.5(NBN):c.2235-12C>T	4683	NBN	Likely benign	1554553904	RCV000667854;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947852	90947852	8:g.90947852G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2235-12C>G	4683	NBN	Likely benign	-1	RCV002629201;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947852	90947852	NC_000008.10:g.90947852G>C	-
NM_002485.5(NBN):c.2235-16A>C	4683	NBN	Likely benign	1405688125	RCV002529270;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947856	90947856	NC_000008.10:g.90947856T>G	ClinGen:CA658683523	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2235-16A>G	4683	NBN	Likely benign	1405688125	RCV002215993;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947856	90947856	90947856	-
NM_002485.5(NBN):c.2235-18C>T	4683	NBN	Benign/Likely benign	138106214	RCV000160777\|RCV000679461\|RCV002053934;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947858	90947858	NC_000008.10:g.90947858G>A	ClinGen:CA299590	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2235-19C>T	4683	NBN	Likely benign	1057524430	RCV000426110\|RCV002063632;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947859	90947859	8:g.90947859G>A	ClinGen:CA16605505	CN169374 not specified;
NM_002485.5(NBN):c.2235-20C>T	4683	NBN	Likely benign	-1	RCV002932709;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90947860	90947860	NC_000008.10:g.90947860G>A	-
NM_002485.5(NBN):c.2234+17C>T	4683	NBN	Likely benign	1057524773	RCV000443550\|RCV002525521;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949237	90949237	8:g.90949237G>A	ClinGen:CA16605420	CN169374 not specified;
NM_002485.5(NBN):c.2234+16C>T	4683	NBN	Likely benign	1563497498	RCV000679460\|RCV002060850;	N	MedGen:CN517202\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949238	90949238	NC_000008.10:g.90949238G>A	-	CN517202 not provided;
NM_002485.5(NBN):c.2234+16C>A	4683	NBN	Likely benign	1563497498	RCV002069128;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949238	90949238	8:g.90949238G>T	-
NM_002485.5(NBN):c.2234+14C>T	4683	NBN	Likely benign	763071338	RCV000417621\|RCV002521563;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949240	90949240	8:g.90949240G>A	ClinGen:CA4802581	CN169374 not specified;
NM_002485.5(NBN):c.2234+14C>G	4683	NBN	Likely benign	763071338	RCV002068181;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949240	90949240	8:g.90949240G>C	-
NM_002485.5(NBN):c.2234+13T>C	4683	NBN	Likely benign	2130739022	RCV002095060;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949241	90949241	90949241	-
NM_002485.5(NBN):c.2234+12T>C	4683	NBN	Likely benign	1057523867	RCV000442524\|RCV002060001;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949242	90949242	8:g.90949242A>G	ClinGen:CA16605421	CN169374 not specified;
NM_002485.5(NBN):c.2234+9T>G	4683	NBN	Conflicting interpretations of pathogenicity	1446505128	RCV000506398\|RCV000926687;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949245	90949245	8:g.90949245A>C	ClinGen:CA583377701	CN169374 not specified;
NM_002485.5(NBN):c.2234+9T>C	4683	NBN	Likely benign	1446505128	RCV002174312;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949245	90949245	90949245	-
NM_002485.5(NBN):c.2234+5A>G	4683	NBN	Uncertain significance	1586024121	RCV000808253;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949249	90949249	8:g.90949249T>C	-
NM_002485.5(NBN):c.2234+5A>C	4683	NBN	Uncertain significance	1586024121	RCV000796777;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949249	90949249	8:g.90949249T>G	-
NM_002485.5(NBN):c.2226_2234+4del	4683	NBN	Likely pathogenic	1563497529	RCV000690766\|RCV002424617;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90949250	90949262	NC_000008.10:g.90949251_90949263del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2234+2T>G	4683	NBN	Likely pathogenic	142301194	RCV000164379\|RCV000508046\|RCV000636785\|RCV003474858;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90949252	90949252	8:g.90949252A>C	ClinGen:CA190813	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2234+1G>T	4683	NBN	Likely pathogenic	1586024147	RCV001014894\|RCV001236246;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949253	90949253	8:g.90949253C>A	-
NM_002485.5(NBN):c.2234+1G>A	4683	NBN	Likely pathogenic	1586024147	RCV001062133;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949253	90949253	8:g.90949253C>T	-
NM_002485.5(NBN):c.2232del (p.Phe744fs)	4683	NBN	Uncertain significance	1554554233	RCV000532625\|RCV000679459;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN517202	8	90949256	90949256	NC_000008.10:g.90949260del	ClinGen:CA658657783	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2232T>C (p.Phe744=)	4683	NBN	Likely benign	-1	RCV002428274\|RCV003101153;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949256	90949256		-
NM_002485.5(NBN):c.2227_2228del (p.Leu743fs)	4683	NBN	Uncertain significance	876659551	RCV000215231\|RCV000666188;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949260	90949261	8:g.90949260_90949261del	ClinGen:CA10578740	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2228T>G (p.Leu743Arg)	4683	NBN	Uncertain significance	-1	RCV002838161;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949260	90949260	NC_000008.10:g.90949260A>C	-
NM_002485.5(NBN):c.2227C>A (p.Leu743Ile)	4683	NBN	Uncertain significance	894189734	RCV001877138;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949261	90949261	90949261	-
NM_002485.5(NBN):c.2227C>T (p.Leu743Phe)	4683	NBN	Uncertain significance	894189734	RCV001945390;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949261	90949261	90949261	-
NM_002485.5(NBN):c.2226T>A (p.Asp742Glu)	4683	NBN	Uncertain significance	767523514	RCV000216943\|RCV000541325\|RCV001527001;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90949262	90949262	8:g.90949262A>T	ClinGen:CA4802584	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2226T>G (p.Asp742Glu)	4683	NBN	Uncertain significance	767523514	RCV000553933\|RCV000566491\|RCV003476252;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90949262	90949262	NC_000008.10:g.90949262A>C	ClinGen:CA371674753	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2221GAT[1] (p.Asp742del)	4683	NBN	Uncertain significance	1421967400	RCV002008665;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949262	90949264	90949261	-
NM_002485.5(NBN):c.2224G>T (p.Asp742Tyr)	4683	NBN	Uncertain significance	746479577	RCV000702271\|RCV001014850\|RCV001174569;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90949264	90949264	8:g.90949264C>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2221G>A (p.Asp741Asn)	4683	NBN	Uncertain significance	1586024237	RCV000811175;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949267	90949267	8:g.90949267C>T	-
NM_002485.5(NBN):c.2220T>C (p.Ala740=)	4683	NBN	Benign/Likely benign	147494981	RCV000123214\|RCV000160776\|RCV000212759\|RCV001356321;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142	8	90949268	90949268	8:g.90949268A>G	ClinGen:CA299587	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2219C>T (p.Ala740Val)	4683	NBN	Uncertain significance	1554554240	RCV000670155;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949269	90949269	8:g.90949269G>A	ClinGen:CA371674767	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2219C>A (p.Ala740Asp)	4683	NBN	Uncertain significance	1554554240	RCV002009723;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949269	90949269	90949269	-
NM_002485.5(NBN):c.2217T>C (p.Leu739=)	4683	NBN	Likely benign	760207156	RCV000444912\|RCV001400012\|RCV002418328;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90949271	90949271	8:g.90949271A>G	ClinGen:CA4802585	CN169374 not specified;
NM_002485.5(NBN):c.2215_2216del (p.Leu739fs)	4683	NBN	Uncertain significance	1809723362	RCV001309554;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949272	90949273	90949271	-
NM_002485.5(NBN):c.2216T>C (p.Leu739Pro)	4683	NBN	Uncertain significance	2130739195	RCV001872072;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949272	90949272	90949272	-
NM_002485.5(NBN):c.2215C>G (p.Leu739Val)	4683	NBN	Uncertain significance	370058152	RCV000160797\|RCV000168129\|RCV000590749\|RCV000764782;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MON	8	90949273	90949273	NC_000008.10:g.90949273G>C	ClinGen:CA299639	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2213C>T (p.Ser738Phe)	4683	NBN	Uncertain significance	876659097	RCV000214956\|RCV000759174\|RCV001800553;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949275	90949275	8:g.90949275G>A	ClinGen:CA10578741	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2211G>T (p.Glu737Asp)	4683	NBN	Uncertain significance	753596803	RCV000220264\|RCV001303812;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949277	90949277	8:g.90949277C>A	ClinGen:CA10578742	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2211G>A (p.Glu737=)	4683	NBN	Likely benign	753596803	RCV002146763\|RCV002427650;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90949277	90949277	90949277	-
NM_002485.5(NBN):c.2210A>T (p.Glu737Val)	4683	NBN	Uncertain significance	1554554247	RCV000529007\|RCV001014801\|RCV003470740;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90949278	90949278	NC_000008.10:g.90949278T>A	ClinGen:CA371674784	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2205AGA[1] (p.Glu737del)	4683	NBN	Uncertain significance	1554554251	RCV000665934\|RCV000773336;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90949278	90949280	8:g.90949278_90949280del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2204_2208del (p.Lys735fs)	4683	NBN	Uncertain significance	2130739278	RCV002045519;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949280	90949284	90949279	-
NM_002485.5(NBN):c.2206G>T (p.Glu736Ter)	4683	NBN	Uncertain significance	756831345	RCV000665016\|RCV001014726\|RCV003163056;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	8	90949282	90949282	8:g.90949282C>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2206del (p.Glu736fs)	4683	NBN	Uncertain significance	1809724889	RCV001343582;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949282	90949282	8:g.90949282_90949282del	-
NM_002485.5(NBN):c.2206G>C (p.Glu736Gln)	4683	NBN	Uncertain significance	756831345	RCV001323041\|RCV003346350;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90949282	90949282	8:g.90949282C>G	-
NM_002485.5(NBN):c.2202A>G (p.Ala734=)	4683	NBN	Benign/Likely benign	200452212	RCV000123213\|RCV000160775\|RCV000212757\|RCV001086589;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949286	90949286	8:g.90949286T>C	ClinGen:CA299584	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2201C>T (p.Ala734Val)	4683	NBN	Uncertain significance	751824753	RCV000570498\|RCV001529445\|RCV001800788;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949287	90949287	NC_000008.10:g.90949287G>A	ClinGen:CA4802588	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2201C>G (p.Ala734Gly)	4683	NBN	Uncertain significance	-1	RCV002890883\|RCV003167894;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90949287	90949287	NC_000008.10:g.90949287G>C	-
NM_002485.5(NBN):c.2198A>G (p.His733Arg)	4683	NBN	Uncertain significance	998714046	RCV000636756\|RCV000985874\|RCV001014745\|RCV003465394;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90949290	90949290	8:g.90949290T>C	ClinGen:CA181268780	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2197C>G (p.His733Asp)	4683	NBN	Uncertain significance	1311278427	RCV000771688\|RCV001059710;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949291	90949291	NC_000008.10:g.90949291G>C	-
NM_002485.5(NBN):c.2196A>G (p.Gln732=)	4683	NBN	Benign/Likely benign	587780780	RCV000160774\|RCV000212756\|RCV000586710\|RCV001083624\|RCV001355782;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0007254,MedGen:C0006142	8	90949292	90949292	8:g.90949292T>C	ClinGen:CA299581	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2194C>T (p.Gln732Ter)	4683	NBN	Conflicting interpretations of pathogenicity	1554554265	RCV000552881\|RCV002431579;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90949294	90949294	NC_000008.10:g.90949294G>A	ClinGen:CA371674821	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2191A>T (p.Asn731Tyr)	4683	NBN	Uncertain significance	369649307	RCV000115789\|RCV000775375\|RCV001049269;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949297	90949297	8:g.90949297T>A	ClinGen:CA287922	CN169374 not specified;
NM_002485.5(NBN):c.2190A>G (p.Gln730=)	4683	NBN	Likely benign	786203112	RCV000166274\|RCV000607458\|RCV000937582;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949298	90949298	8:g.90949298T>C	ClinGen:CA195427	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2188C>T (p.Gln730Ter)	4683	NBN	Pathogenic	1554554267	RCV000636698;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949300	90949300	NC_000008.10:g.90949300G>A	ClinGen:CA371674836	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2188C>A (p.Gln730Lys)	4683	NBN	Uncertain significance	1554554267	RCV002010009;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949300	90949300	90949300	-
NM_002485.5(NBN):c.2187dup (p.Gln730fs)	4683	NBN	Likely pathogenic	2130739402	RCV001986072;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949300	90949301	90949300	-
NM_002485.5(NBN):c.2186T>C (p.Val729Ala)	4683	NBN	Uncertain significance	1809726528	RCV001213273;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949302	90949302	8:g.90949302A>G	-
NM_002485.5(NBN):c.2185-1G>A	4683	NBN	Likely pathogenic	1057517262	RCV000409942\|RCV001014719\|RCV003470351;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90949304	90949304	NC_000008.10:g.90949304C>T	ClinGen:CA16041200	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2185-3C>T	4683	NBN	Uncertain significance	1809726732	RCV001321760\|RCV003469548;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90949306	90949306	90949306	-
NM_002485.5(NBN):c.2185-20_2185-4del	4683	NBN	Uncertain significance	2130739432	RCV001370186;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949307	90949323	90949306	-
NM_002485.5(NBN):c.2185-7T>C	4683	NBN	Likely benign	1563497932	RCV001464753;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949310	90949310	NC_000008.10:g.90949310A>G	-
NM_002485.5(NBN):c.2185-7T>G	4683	NBN	Conflicting interpretations of pathogenicity	1563497932	RCV001428981;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949310	90949310	8:g.90949310A>C	-
NM_002485.5(NBN):c.2185-12T>G	4683	NBN	Conflicting interpretations of pathogenicity	373516568	RCV002099636\|RCV002258359;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90949315	90949315	90949315	-
NM_002485.5(NBN):c.2185-13T>C	4683	NBN	Likely benign	1285279553	RCV002177411;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949316	90949316	90949316	-
NM_002485.5(NBN):c.2185-14G>C	4683	NBN	Likely benign	2130739480	RCV002178162;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949317	90949317	90949317	-
NM_002485.5(NBN):c.2185-16A>G	4683	NBN	Likely benign	-1	RCV002607279;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949319	90949319	NC_000008.10:g.90949319T>C	-
NM_002485.5(NBN):c.2185-17T>C	4683	NBN	Likely benign	-1	RCV003046247;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90949320	90949320	NC_000008.10:g.90949320A>G	-
NM_002485.5(NBN):c.2184+123G>A	4683	NBN	Benign	7840099	RCV001532828\|RCV001655815;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90955358	90955358	90955358	-
NM_002485.5(NBN):c.2184+19C>G	4683	NBN	Likely benign	1007353959	RCV002197417;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955462	90955462	90955462	-
NM_002485.5(NBN):c.2184+19C>T	4683	NBN	Likely benign	1007353959	RCV002135372;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955462	90955462	90955462	-
NM_002485.5(NBN):c.2184+19C>A	4683	NBN	Likely benign	-1	RCV002631272;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955462	90955462	NC_000008.10:g.90955462G>T	-
NM_002485.5(NBN):c.2184+18C>G	4683	NBN	Likely benign	-1	RCV002628757;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955463	90955463	NC_000008.10:g.90955463G>C	-
NM_002485.5(NBN):c.2184+16G>A	4683	NBN	Likely benign	-1	RCV002611439;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955465	90955465	NC_000008.10:g.90955465C>T	-
NM_002485.5(NBN):c.2184+13T>A	4683	NBN	Likely benign	1341774597	RCV001416044;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955468	90955468	90955468	-
NM_002485.5(NBN):c.2184+12G>A	4683	NBN	Likely benign	1402547304	RCV002174769;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955469	90955469	90955469	-
NC_000008.10:g.(?_90955471)_(90983528_?)dup	4683	NBN	Likely pathogenic	-1	RCV000708422;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955471	90983528		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NC_000008.10:g.(?_90955471)_(90976745_?)del	4683	NBN	Pathogenic	-1	RCV001385273;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955471	90976745	-1	-
NC_000008.10:g.(?_90955471)_(90958533_?)del	4683	NBN	Likely pathogenic	-1	RCV003107697;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955471	90958533		-
NC_000008.10:g.(?_90955471)_(90996789_?)dup	4683	NBN	Uncertain significance	-1	RCV003107700;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955471	90996789		-
NM_002485.5(NBN):c.2184+9G>T	4683	NBN	Uncertain significance	-1	RCV003030861;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955472	90955472	NC_000008.10:g.90955472C>A	-
NM_002485.5(NBN):c.2184+8G>C	4683	NBN	Likely benign	730881842	RCV000160773\|RCV000196142;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955473	90955473	NC_000008.10:g.90955473C>G	ClinGen:CA299580	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2184+8G>A	4683	NBN	Likely benign	730881842	RCV001495561;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955473	90955473	90955473	-
NM_002485.5(NBN):c.2184+7A>G	4683	NBN	Likely benign	200812782	RCV000204237;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955474	90955474	8:g.90955474T>C	ClinGen:CA348483	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2184+6T>A	4683	NBN	Uncertain significance	1810029317	RCV001209705;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955475	90955475	8:g.90955475A>T	-
NM_002485.5(NBN):c.2184+5G>A	4683	NBN	Uncertain significance	1563507830	RCV000707452;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955476	90955476	NC_000008.10:g.90955476C>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2071-1175_2184+2del	4683	NBN	Likely pathogenic	-1	RCV001357927;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955479	90956769	90955478	-
NM_002485.5(NBN):c.2184+2T>G	4683	NBN	Conflicting interpretations of pathogenicity	75823099	RCV001379405\|RCV002432064;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955479	90955479	90955479	-
NM_002485.5(NBN):c.2184+2T>A	4683	NBN	Likely pathogenic	75823099	RCV001379478;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955479	90955479	90955479	-
NM_002485.5(NBN):c.2184+1G>T	4683	NBN	Conflicting interpretations of pathogenicity	756363734	RCV000222999\|RCV000411514\|RCV000478822\|RCV003469077;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90955480	90955480	8:g.90955480C>A	ClinGen:CA10578743	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2184+1G>A	4683	NBN	Likely pathogenic	756363734	RCV000569113\|RCV000822720;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955480	90955480	8:g.90955480C>T	ClinGen:CA181273259	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.4(NBN):c.897-?_2184+?del	4683	NBN	Pathogenic	-1	RCV000199420;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955481	90976735		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2184G>A (p.Glu728=)	4683	NBN	Uncertain significance	1586034964	RCV000815934\|RCV002259027;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955481	90955481	8:g.90955481C>T	-
NM_002485.5(NBN):c.2184G>C (p.Glu728Asp)	4683	NBN	Uncertain significance	1586034964	RCV001233607;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955481	90955481	8:g.90955481C>G	-
NM_002485.5(NBN):c.2183A>T (p.Glu728Val)	4683	NBN	Uncertain significance	1060503487	RCV000469108;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955482	90955482	NC_000008.10:g.90955482T>A	ClinGen:CA16612355	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2181G>A (p.Met727Ile)	4683	NBN	Uncertain significance	1586034984	RCV000793368;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955484	90955484	8:g.90955484C>T	-
NM_002485.5(NBN):c.2179A>G (p.Met727Val)	4683	NBN	Uncertain significance	1554555732	RCV000563873\|RCV001858119;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955486	90955486	8:g.90955486T>C	ClinGen:CA371675275	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2177A>C (p.Glu726Ala)	4683	NBN	Uncertain significance	1554555736	RCV000539958;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955488	90955488	NC_000008.10:g.90955488T>G	ClinGen:CA371675287	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2177A>G (p.Glu726Gly)	4683	NBN	Uncertain significance	1554555736	RCV001315344\|RCV002431894;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955488	90955488	90955488	-
NM_002485.5(NBN):c.2176G>A (p.Glu726Lys)	4683	NBN	Uncertain significance	1421870412	RCV001014641\|RCV001307900;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955489	90955489	8:g.90955489C>T	-
NM_002485.5(NBN):c.2174A>C (p.Gln725Pro)	4683	NBN	Uncertain significance	878854510	RCV000234128\|RCV001014678;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955491	90955491	NC_000008.10:g.90955491T>G	ClinGen:CA10582591	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2174A>G (p.Gln725Arg)	4683	NBN	Uncertain significance	878854510	RCV001186738\|RCV001212875;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955491	90955491	8:g.90955491T>C	-
NM_002485.5(NBN):c.2173C>T (p.Gln725Ter)	4683	NBN	Pathogenic	1810030774	RCV001071287;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955492	90955492	8:g.90955492G>A	-
NM_002485.5(NBN):c.2172_2173delinsTT (p.Arg724_Gln725delinsSerTer)	4683	NBN	Pathogenic	2130755275	RCV001380696;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955492	90955493	90955492	-
NM_002485.5(NBN):c.2173del (p.Gln725fs)	4683	NBN	Likely pathogenic	2130755261	RCV001990475;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955492	90955492	90955491	-
NM_002485.5(NBN):c.2172G>A (p.Arg724=)	4683	NBN	Likely benign	1057523944	RCV000561590\|RCV001395580\|RCV001698352;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90955493	90955493	8:g.90955493C>T	ClinGen:CA16605508	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2170A>G (p.Arg724Gly)	4683	NBN	Uncertain significance	1586035037	RCV001014666\|RCV003117692;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955495	90955495	8:g.90955495T>C	-
NM_002485.5(NBN):c.2167C>A (p.Leu723Ile)	4683	NBN	Uncertain significance	759888769	RCV001856114;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955498	90955498	NC_000008.10:g.90955498G>T	-
NM_002485.5(NBN):c.2167C>G (p.Leu723Val)	4683	NBN	Uncertain significance	759888769	RCV001210140\|RCV002429891;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955498	90955498	8:g.90955498G>C	-
NM_002485.5(NBN):c.2166G>T (p.Trp722Cys)	4683	NBN	Uncertain significance	1810031465	RCV001349925;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955499	90955499	90955499	-
NM_002485.5(NBN):c.2165G>A (p.Trp722Ter)	4683	NBN	Pathogenic	786204181	RCV000168229;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955500	90955500	8:g.90955500C>T	ClinGen:CA334459	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2165G>C (p.Trp722Ser)	4683	NBN	Uncertain significance	786204181	RCV000805582\|RCV001014662\|RCV001766677;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90955500	90955500	8:g.90955500C>G	-
NM_002485.5(NBN):c.2164T>G (p.Trp722Gly)	4683	NBN	Uncertain significance	1554555748	RCV000564002\|RCV001235751;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955501	90955501	8:g.90955501A>C	ClinGen:CA371675343	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2164T>A (p.Trp722Arg)	4683	NBN	Uncertain significance	1554555748	RCV001908909;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955501	90955501	90955501	-
NM_002485.5(NBN):c.2162A>T (p.Glu721Val)	4683	NBN	Uncertain significance	1554555751	RCV000527358;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955503	90955503	8:g.90955503T>A	ClinGen:CA371675355	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)	4683	NBN	Pathogenic/Likely pathogenic	1064795816	RCV000486706\|RCV000573618\|RCV001383121\|RCV003470579;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90955504	90955504	8:g.90955504C>A	ClinGen:CA16618697	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2161G>C (p.Glu721Gln)	4683	NBN	Uncertain significance	1064795816	RCV001233494\|RCV002256715;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955504	90955504	8:g.90955504C>G	-
NM_002485.5(NBN):c.2160A>C (p.Glu720Asp)	4683	NBN	Uncertain significance	1810032277	RCV001066917;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955505	90955505	8:g.90955505T>G	-
NM_002485.5(NBN):c.2160A>G (p.Glu720=)	4683	NBN	Likely benign	-1	RCV003020989;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955505	90955505		-
NM_002485.5(NBN):c.2155_2157dup (p.Leu719dup)	4683	NBN	Uncertain significance	864622241	RCV000206749\|RCV000775377\|RCV003231404;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90955507	90955508	8:g.90955507_90955508insTAG	ClinGen:CA350756	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2158G>A (p.Glu720Lys)	4683	NBN	Uncertain significance	876660294	RCV000223177\|RCV001297564;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955507	90955507	8:g.90955507C>T	ClinGen:CA10578744	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2158G>C (p.Glu720Gln)	4683	NBN	Uncertain significance	876660294	RCV001014622\|RCV001860770;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955507	90955507	8:g.90955507C>G	-
NM_002485.5(NBN):c.2156dup (p.Glu720fs)	4683	NBN	Likely pathogenic	1586035111	RCV000808618;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955508	90955509	8:g.90955508_90955509insA	-
NM_002485.5(NBN):c.2150_2157del (p.Thr717fs)	4683	NBN	Likely pathogenic	2130755422	RCV002033213;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955508	90955515	90955507	-
NM_002485.5(NBN):c.2155C>G (p.Leu719Val)	4683	NBN	Uncertain significance	1563508063	RCV001869091;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955510	90955510	NC_000008.10:g.90955510G>C	-
NM_002485.5(NBN):c.2154_2155insGGAA (p.Leu719fs)	4683	NBN	Likely pathogenic	2130755457	RCV002023938;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955510	90955511	90955510	-
NM_002485.5(NBN):c.2154A>G (p.Glu718=)	4683	NBN	Likely benign	2130755446	RCV002177821;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955511	90955511	90955511	-
NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)	4683	NBN	Pathogenic	-1	RCV003089653\|RCV003161760;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955513	90955513	NC_000008.10:g.90955513C>A	-
NM_002485.5(NBN):c.2152del (p.Glu718fs)	4683	NBN	Pathogenic	-1	RCV003015710;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955513	90955513	NC_000008.10:g.90955513del	-
NM_002485.5(NBN):c.2151A>G (p.Thr717=)	4683	NBN	Likely benign	760687282	RCV000218205\|RCV000636788\|RCV001722193;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90955514	90955514	8:g.90955514T>C	ClinGen:CA4802598	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2150C>T (p.Thr717Ile)	4683	NBN	Uncertain significance	1554555764	RCV000551501\|RCV000583856;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955515	90955515	NC_000008.10:g.90955515G>A	ClinGen:CA371675415	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)	4683	NBN	Uncertain significance	587780093	RCV000115788\|RCV000212755\|RCV000515194\|RCV000534044\|RCV000780522;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90955516	90955516	8:g.90955516T>A	ClinGen:CA287919	C0023449 613065 Acute lymphoid leukemia;
NM_002485.5(NBN):c.2145_2147delinsT (p.Lys715fs)	4683	NBN	Pathogenic	1810033651	RCV001246652;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955518	90955520	8:g.90955519_90955520del	-
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)	4683	NBN	Benign/Likely benign	72563785	RCV000121615\|RCV000128986\|RCV000168432\|RCV000589914\|RCV002225384\|RCV002498572;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0009623,MedGen:C03987	8	90955519	90955519	8:g.90955519T>C	ClinGen:CA160972	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2144dup (p.Asn716fs)	4683	NBN	Likely pathogenic	1810033982	RCV001242070;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955520	90955521	8:g.90955520_90955521insT	-
NM_002485.5(NBN):c.2144A>G (p.Lys715Arg)	4683	NBN	Uncertain significance	-1	RCV002301998\|RCV002427765;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955521	90955521	90955521	-
NM_002485.5(NBN):c.2140_2143del (p.Lys715fs)	4683	NBN	Pathogenic	1810034093	RCV001066631;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955522	90955525	8:g.90955522_90955525del	-
NM_002485.5(NBN):c.2143A>C (p.Lys715Gln)	4683	NBN	Uncertain significance	2130755556	RCV001893256;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955522	90955522	90955522	-
NM_002485.5(NBN):c.2141_2142del (p.Arg714fs)	4683	NBN	Likely pathogenic	2130755572	RCV001377443;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955523	90955524	90955522	-
NM_002485.5(NBN):c.2141G>A (p.Arg714Gln)	4683	NBN	Uncertain significance	753270166	RCV000526011\|RCV000569966\|RCV001561929\|RCV003470739;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90955524	90955524	NC_000008.10:g.90955524C>T	ClinGen:CA4802599	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2119_2141del (p.Asp707fs)	4683	NBN	Likely pathogenic	1554555782	RCV000636703;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955524	90955546	NC_000008.10:g.90955524_90955546del	ClinGen:CA658797126	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2141G>C (p.Arg714Pro)	4683	NBN	Uncertain significance	753270166	RCV002026705;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955524	90955524	90955524	-
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)	4683	NBN	Pathogenic/Likely pathogenic	730881864	RCV000160804\|RCV000204431\|RCV000215628\|RCV000515171\|RCV003467267;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90955525	90955525	NC_000008.10:g.90955525G>A	ClinGen:CA299657	C0023449 613065 Acute lymphoid leukemia;
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly)	4683	NBN	Conflicting interpretations of pathogenicity	730881864	RCV000575176\|RCV000636782\|RCV001584370;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90955525	90955525	8:g.90955525G>C	ClinGen:CA4802601	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2140del (p.Arg714fs)	4683	NBN	Pathogenic	1810034741	RCV001041492;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955525	90955525	8:g.90955525_90955525del	-
NM_002485.5(NBN):c.2139T>C (p.Ala713=)	4683	NBN	Likely benign	755274971	RCV000163443\|RCV000759173\|RCV001083050;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955526	90955526	8:g.90955526A>G	ClinGen:CA188300	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2138C>G (p.Ala713Gly)	4683	NBN	Uncertain significance	986903713	RCV000470877\|RCV000563097;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955527	90955527	NC_000008.10:g.90955527G>C	ClinGen:CA16612646	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2138C>A (p.Ala713Asp)	4683	NBN	Uncertain significance	986903713	RCV001364944;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955527	90955527	90955527	-
NM_002485.5(NBN):c.2131CAT[1] (p.His712del)	4683	NBN	Uncertain significance	786204096	RCV000168012\|RCV000575158;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955529	90955531	8:g.90955529_90955531del	ClinGen:CA334142	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2136T>C (p.His712=)	4683	NBN	Likely benign	1429343146	RCV000781638\|RCV001014473\|RCV001441752;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955529	90955529	NC_000008.10:g.90955529A>G	-
NM_002485.5(NBN):c.2135A>G (p.His712Arg)	4683	NBN	Uncertain significance	1361799559	RCV001224421\|RCV002418780;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955530	90955530	8:g.90955530T>C	-
NM_002485.5(NBN):c.2134C>A (p.His712Asn)	4683	NBN	Uncertain significance	781520763	RCV000165937\|RCV001241624\|RCV003441764;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90955531	90955531	8:g.90955531G>T	ClinGen:CA194574	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2134C>T (p.His712Tyr)	4683	NBN	Uncertain significance	781520763	RCV001040397\|RCV001284193\|RCV002416346\|RCV003155342;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90955531	90955531	8:g.90955531G>A	-
NM_002485.5(NBN):c.2132_2133del (p.His711fs)	4683	NBN	Likely pathogenic	2130755717	RCV002012848;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955532	90955533	90955531	-
NM_002485.5(NBN):c.2133T>C (p.His711=)	4683	NBN	Likely benign	2130755705	RCV002162031\|RCV002423301;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955532	90955532	90955532	-
NM_002485.5(NBN):c.2132A>T (p.His711Leu)	4683	NBN	Uncertain significance	1810035825	RCV001040396\|RCV001284192\|RCV003155341;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN517202\|MedGen:CN169374	8	90955533	90955533	8:g.90955533T>A	-
NM_002485.5(NBN):c.2128_2132del (p.Ala710fs)	4683	NBN	Likely pathogenic	2130755743	RCV001378053;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955533	90955537	90955532	-
NM_002485.5(NBN):c.2131C>T (p.His711Tyr)	4683	NBN	Uncertain significance	780333168	RCV000701361\|RCV001014560;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955534	90955534	NC_000008.10:g.90955534G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2129C>T (p.Ala710Val)	4683	NBN	Uncertain significance	1060503454	RCV000475083\|RCV000564631\|RCV002248691;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90955536	90955536	NC_000008.10:g.90955536G>A	ClinGen:CA16612647	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2128G>C (p.Ala710Pro)	4683	NBN	Conflicting interpretations of pathogenicity	1554555808	RCV000568915\|RCV000704836;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955537	90955537	8:g.90955537C>G	ClinGen:CA371675559	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2120_2128del (p.Asp707_Ile709del)	4683	NBN	Uncertain significance	1563508381	RCV000688159\|RCV001014517;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955537	90955545	NC_000008.10:g.90955539_90955547del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2127dup (p.Ala710fs)	4683	NBN	Likely pathogenic	-1	RCV002810693;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955537	90955538	NC_000008.10:g.90955538dup	-
NM_002485.5(NBN):c.2125_2127delinsCTG (p.Ile709Leu)	4683	NBN	Uncertain significance	1586035313	RCV001014538\|RCV002549405;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955538	90955540	NC_000008.10:g.90955538_90955540delinsCAG	-
NM_002485.5(NBN):c.2122C>T (p.Leu708=)	4683	NBN	Likely benign	756580887	RCV000425216\|RCV001014525\|RCV002058993;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955543	90955543	8:g.90955543G>A	ClinGen:CA16605267	CN169374 not specified;
NM_002485.5(NBN):c.2122C>G (p.Leu708Val)	4683	NBN	Uncertain significance	756580887	RCV001246959\|RCV002418849;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955543	90955543	8:g.90955543G>C	-
NM_002485.5(NBN):c.2121T>A (p.Asp707Glu)	4683	NBN	Uncertain significance	-1	RCV002760939;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955544	90955544	NC_000008.10:g.90955544A>T	-
NM_002485.5(NBN):c.2118A>C (p.Ser706=)	4683	NBN	Likely benign	2130755820	RCV001489404;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955547	90955547	90955547	-
NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)	4683	NBN	Pathogenic/Likely pathogenic	730881857	RCV000160795\|RCV000212754\|RCV000409031\|RCV001535781\|RCV003407597\|RCV003467263;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0007254,MedGen:C0006142; MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|\|Human Phenoty	8	90955548	90955548	NC_000008.10:g.90955548G>C	ClinGen:CA299633	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2115A>G (p.Gly705=)	4683	NBN	Conflicting interpretations of pathogenicity	1173178388	RCV000636777\|RCV002420713;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955550	90955550	NC_000008.10:g.90955550T>C	ClinGen:CA461837526	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2114G>A (p.Gly705Glu)	4683	NBN	Uncertain significance	1810037139	RCV001062356;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955551	90955551	8:g.90955551C>T	-
NM_002485.5(NBN):c.2110G>A (p.Gly704Arg)	4683	NBN	Uncertain significance	1810037245	RCV001886701;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955555	90955555	90955555	-
NM_002485.5(NBN):c.2108T>C (p.Ile703Thr)	4683	NBN	Uncertain significance	1554555819	RCV000550160\|RCV003278886;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955557	90955557	NC_000008.10:g.90955557A>G	ClinGen:CA371675685	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2108T>G (p.Ile703Ser)	4683	NBN	Uncertain significance	-1	RCV003015173;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955557	90955557	NC_000008.10:g.90955557A>C	-
NM_002485.5(NBN):c.2107A>G (p.Ile703Val)	4683	NBN	Uncertain significance	942302974	RCV001920303;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955558	90955558	90955558	-
NM_002485.5(NBN):c.2106C>A (p.Ile702=)	4683	NBN	Likely benign	1398694666	RCV001426547;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955559	90955559	8:g.90955559G>T	-
NM_002485.5(NBN):c.2106C>T (p.Ile702=)	4683	NBN	Likely benign	1398694666	RCV001391878;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955559	90955559	8:g.90955559G>A	-
NM_002485.5(NBN):c.2103C>T (p.His701=)	4683	NBN	Likely benign	753991062	RCV000537535\|RCV000775378;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955562	90955562	NC_000008.10:g.90955562G>A	ClinGen:CA181273322	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2102del (p.His701fs)	4683	NBN	Pathogenic	1810038215	RCV001051769;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955563	90955563	8:g.90955563_90955563del	-
NM_002485.5(NBN):c.2101C>T (p.His701Tyr)	4683	NBN	Uncertain significance	587781567	RCV000129592\|RCV001826793\|RCV003467113\|RCV003398758;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88\|	8	90955564	90955564	8:g.90955564G>A	ClinGen:CA164739	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2100A>G (p.Pro700=)	4683	NBN	Likely benign	2130756024	RCV001472983;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955565	90955565	90955565	-
NM_002485.5(NBN):c.2099C>T (p.Pro700Leu)	4683	NBN	Uncertain significance	1367898317	RCV001219087;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955566	90955566	8:g.90955566G>A	-
NM_002485.5(NBN):c.2099del (p.Pro700fs)	4683	NBN	Pathogenic	1301956720	RCV001239340;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955566	90955566	8:g.90955566_90955566del	-
NM_002485.5(NBN):c.2099C>G (p.Pro700Arg)	4683	NBN	Uncertain significance	1367898317	RCV001972008\|RCV002423085\|RCV003475185;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90955566	90955566	90955566	-
NM_002485.5(NBN):c.2098C>A (p.Pro700Thr)	4683	NBN	Uncertain significance	1060503461	RCV000464532\|RCV000562388\|RCV001821291;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90955567	90955567	NC_000008.10:g.90955567G>T	ClinGen:CA16612356	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2097_2098del (p.Pro700fs)	4683	NBN	Conflicting interpretations of pathogenicity	2130756068	RCV001378945\|RCV002420855;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955567	90955568	90955566	-
NM_002485.5(NBN):c.2097dup (p.Pro700fs)	4683	NBN	Pathogenic	-1	RCV003062170;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955567	90955568	NC_000008.10:g.90955569dup	-
NM_002485.5(NBN):c.2097T>C (p.Leu699=)	4683	NBN	Likely benign	1810038889	RCV002067913;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955568	90955568	8:g.90955568A>G	-
NM_002485.5(NBN):c.2096T>C (p.Leu699Pro)	4683	NBN	Uncertain significance	1810039016	RCV001034830;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955569	90955569	8:g.90955569A>G	-
NM_002485.5(NBN):c.2094A>G (p.Lys698=)	4683	NBN	Likely benign	878854509	RCV002057239;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955571	90955571	8:g.90955571T>C	ClinGen:CA10582592	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2091A>T (p.Gly697=)	4683	NBN	Likely benign	-1	RCV002877104;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955574	90955574		-
NM_002485.5(NBN):c.2090G>A (p.Gly697Glu)	4683	NBN	Uncertain significance	-1	RCV003020834;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955575	90955575	NC_000008.10:g.90955575C>T	-
NM_002485.5(NBN):c.2089G>T (p.Gly697Ter)	4683	NBN	Pathogenic	1038132485	RCV001387991;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955576	90955576	90955576	-
NM_002485.5(NBN):c.2087C>T (p.Ala696Val)	4683	NBN	Uncertain significance	1462278909	RCV000685451\|RCV000773958;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955578	90955578	NC_000008.10:g.90955578G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2086G>A (p.Ala696Thr)	4683	NBN	Uncertain significance	749276965	RCV000805300\|RCV002422757;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955579	90955579	8:g.90955579C>T	-
NM_002485.5(NBN):c.2086G>T (p.Ala696Ser)	4683	NBN	Uncertain significance	749276965	RCV001014382\|RCV001243253;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955579	90955579	8:g.90955579C>A	-
NM_002485.5(NBN):c.2085A>G (p.Gly695=)	4683	NBN	Likely benign	2130756163	RCV001432924;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955580	90955580	90955580	-
NM_002485.5(NBN):c.2084G>A (p.Gly695Glu)	4683	NBN	Uncertain significance	1554555834	RCV000564238\|RCV001307872;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955581	90955581	NC_000008.10:g.90955581C>T	ClinGen:CA371675849	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2083G>T (p.Gly695Ter)	4683	NBN	Pathogenic	1554555835	RCV000556515;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955582	90955582	NC_000008.10:g.90955582C>A	ClinGen:CA371675852	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2083G>A (p.Gly695Arg)	4683	NBN	Uncertain significance	1554555835	RCV001217920\|RCV001773488;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN517202	8	90955582	90955582	8:g.90955582C>T	-
NM_002485.5(NBN):c.2082T>G (p.Pro694=)	4683	NBN	Benign	7823648	RCV000128893\|RCV000350955\|RCV000507423\|RCV001705925\|RCV002225416\|RCV003315861;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|Human Phenotype Ontology:HP:00048	8	90955583	90955583	8:g.90955583A>C	ClinGen:CA163518	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2082T>C (p.Pro694=)	4683	NBN	Likely benign	7823648	RCV000571681\|RCV000976411\|RCV001356767\|RCV001821660;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN169374	8	90955583	90955583	8:g.90955583A>G	ClinGen:CA4802605	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2081C>G (p.Pro694Arg)	4683	NBN	Uncertain significance	746090959	RCV000561103\|RCV001059040;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955584	90955584	NC_000008.10:g.90955584G>C	ClinGen:CA4802606	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2080C>T (p.Pro694Ser)	4683	NBN	Uncertain significance	1586035536	RCV000818554;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955585	90955585	8:g.90955585G>A	-
NM_002485.5(NBN):c.2078A>G (p.Tyr693Cys)	4683	NBN	Uncertain significance	1563508706	RCV000699683\|RCV003279018;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955587	90955587	NC_000008.10:g.90955587T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2076A>G (p.Thr692=)	4683	NBN	Likely benign	2130756258	RCV001963629;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955589	90955589	90955589	-
NM_002485.5(NBN):c.2075C>T (p.Thr692Ile)	4683	NBN	Uncertain significance	1060503474	RCV000466915\|RCV000775743\|RCV001755702;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90955590	90955590	NC_000008.10:g.90955590G>A	ClinGen:CA16612649	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2073C>T (p.Val691=)	4683	NBN	Conflicting interpretations of pathogenicity	876658178	RCV000223586\|RCV000636790\|RCV003330586;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90955592	90955592	8:g.90955592G>A	ClinGen:CA10578745	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2073C>A (p.Val691=)	4683	NBN	Likely benign	876658178	RCV002134268;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955592	90955592	90955592	-
NM_002485.5(NBN):c.2072T>G (p.Val691Gly)	4683	NBN	Uncertain significance	1563508748	RCV000772231\|RCV001856011;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955593	90955593	NC_000008.10:g.90955593A>C	-
NM_002485.5(NBN):c.2071G>A (p.Val691Ile)	4683	NBN	Uncertain significance	772059959	RCV000227442\|RCV000575268;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90955594	90955594	NC_000008.10:g.90955594C>T	ClinGen:CA4802607	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2071G>T (p.Val691Phe)	4683	NBN	Uncertain significance	772059959	RCV001014294\|RCV001315087;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955594	90955594	8:g.90955594C>A	-
NM_002485.5(NBN):c.2071del	4683	NBN	Pathogenic/Likely pathogenic	2130756322	RCV001993353\|RCV003464286;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90955594	90955594		-
NM_002485.5(NBN):c.2071-1G>C	4683	NBN	Likely pathogenic	786201965	RCV000164521\|RCV000409665\|RCV000483747\|RCV003474861;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90955595	90955595	8:g.90955595C>G	ClinGen:CA191166	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2071-1G>A	4683	NBN	Likely pathogenic	786201965	RCV000217514\|RCV000222103\|RCV000543979;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955595	90955595	8:g.90955595C>T	ClinGen:CA10577363	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2071-2A>C	4683	NBN	Likely pathogenic	775397477	RCV000636778;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955596	90955596	NC_000008.10:g.90955596T>G	ClinGen:CA4802608	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2071-2A>G	4683	NBN	Likely pathogenic	775397477	RCV001378341;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955596	90955596	90955596	-
NM_002485.5(NBN):c.2071-4A>G	4683	NBN	Uncertain significance	746994234	RCV000204105\|RCV000421866\|RCV000563386\|RCV001697240;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90955598	90955598	8:g.90955598T>C	ClinGen:CA348356	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2071-4A>T	4683	NBN	Conflicting interpretations of pathogenicity	746994234	RCV001014289\|RCV001800923;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955598	90955598	8:g.90955598T>A	-
NM_002485.5(NBN):c.2071-6C>A	4683	NBN	Conflicting interpretations of pathogenicity	768670249	RCV001427677;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955600	90955600	90955600	-
NM_002485.5(NBN):c.2071-8T>C	4683	NBN	Likely benign	1178683426	RCV000875631;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955602	90955602	8:g.90955602A>G	-
NM_002485.5(NBN):c.2071-12A>G	4683	NBN	Likely benign	2130756398	RCV002152861;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955606	90955606	90955606	-
NM_002485.5(NBN):c.2071-13del	4683	NBN	Benign	2130756405	RCV002187009;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955607	90955607	90955606	-
NM_002485.5(NBN):c.2071-14T>C	4683	NBN	Likely benign	2130756415	RCV002185827;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955608	90955608	90955608	-
NM_002485.5(NBN):c.2071-16T>A	4683	NBN	Likely benign	-1	RCV002802118;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955610	90955610	NC_000008.10:g.90955610A>T	-
NM_002485.5(NBN):c.2071-17C>T	4683	NBN	Likely benign	776240552	RCV002215596;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955611	90955611	90955611	-
NM_002485.5(NBN):c.2071-18A>G	4683	NBN	Likely benign	2130756448	RCV002183579;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955612	90955612	90955612	-
NM_002485.5(NBN):c.2071-20C>G	4683	NBN	Likely benign	2130756452	RCV002088818;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90955614	90955614	90955614	-
NM_002485.5(NBN):c.2071-30A>T	4683	NBN	Benign	3736639	RCV000248307\|RCV001532829\|RCV001610628\|RCV002225563\|RCV003316396;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:H	8	90955624	90955624	8:g.90955624T>A	ClinGen:CA4802611	CN169374 not specified;
NM_002485.5(NBN):c.2070+18A>G	4683	NBN	Likely benign	756636190	RCV000428762\|RCV002063389;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958350	90958350	8:g.90958350T>C	ClinGen:CA4802618	CN169374 not specified;
NM_002485.5(NBN):c.2070+16_2070+17del	4683	NBN	Likely benign	-1	RCV002632555;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958351	90958352	NC_000008.10:g.90958352_90958353del	-
NM_002485.5(NBN):c.2070+16G>A	4683	NBN	Likely benign	1554556450	RCV002529269;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958352	90958352	8:g.90958352C>T	ClinGen:CA658683524	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2070+15T>G	4683	NBN	Likely benign	764467759	RCV000610796\|RCV002066685;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958353	90958353	8:g.90958353A>C	ClinGen:CA4802619	CN169374 not specified;
NM_002485.5(NBN):c.2070+15T>C	4683	NBN	Likely benign	-1	RCV002918445;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958353	90958353	NC_000008.10:g.90958353A>G	-
NM_002485.5(NBN):c.2070+13A>G	4683	NBN	Benign/Likely benign	558868023	RCV001712599\|RCV002061881;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958355	90958355	NC_000008.10:g.90958355T>C	ClinGen:CA4802620	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2070+11C>T	4683	NBN	Likely benign	-1	RCV003024478;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958357	90958357	NC_000008.10:g.90958357G>A	-
NC_000008.11:g.(?_89946130)_(89946305_?)del	4683	NBN	Likely pathogenic	-1	RCV001032964;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958358	90958533	-1	-
NC_000008.11:g.(?_89946130)_(89984571_?)dup	4683	NBN	Uncertain significance	-1	RCV001031482;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958358	90996799	-1	-
NC_000008.10:g.(?_90958358)_(90960130_?)del	4683	NBN	Pathogenic	-1	RCV001385272;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958358	90960130	-1	-
NC_000008.10:g.(?_90958358)_(90996789_?)dup	4683	NBN	Uncertain significance	-1	RCV001904662;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958358	90996789	-1	-
NM_002485.5(NBN):c.2070+9T>C	4683	NBN	Likely benign	2130763437	RCV001498967;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958359	90958359	90958359	-
NM_002485.5(NBN):c.2070+8T>C	4683	NBN	Likely benign	-1	RCV002880954;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958360	90958360	NC_000008.10:g.90958360A>G	-
NM_002485.5(NBN):c.2070+7A>G	4683	NBN	Benign/Likely benign	757339440	RCV000536171\|RCV001712769;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90958361	90958361	8:g.90958361T>C	ClinGen:CA4802621	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2070+6T>C	4683	NBN	Uncertain significance	1810172843	RCV001319545;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958362	90958362	90958362	-
NM_002485.5(NBN):c.2070+5G>T	4683	NBN	Uncertain significance	1323512485	RCV000689674;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958363	90958363	NC_000008.10:g.90958363C>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2070+5G>A	4683	NBN	Uncertain significance	1323512485	RCV000813856\|RCV003472295;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90958363	90958363	NC_000008.10:g.90958363C>T	-
NM_002485.5(NBN):c.2070+4G>A	4683	NBN	Conflicting interpretations of pathogenicity	876660950	RCV000216823\|RCV000467512\|RCV000842243\|RCV002265696;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374	8	90958364	90958364	8:g.90958364C>T	ClinGen:CA10578746	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2070+3A>G	4683	NBN	Uncertain significance	1810173321	RCV001210282;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958365	90958365	8:g.90958365T>C	-
NM_002485.5(NBN):c.2070+2T>G	4683	NBN	Likely pathogenic	786203223	RCV000166440\|RCV000759171\|RCV001378392;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958366	90958366	8:g.90958366A>C	ClinGen:CA195879	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2070+2del	4683	NBN	Likely pathogenic	1057517075	RCV000410827\|RCV001805031;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958366	90958366	8:g.90958366_90958366del	ClinGen:CA16041201	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2070+2T>A	4683	NBN	Likely pathogenic	786203223	RCV001996041;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958366	90958366	90958366	-
NM_002485.5(NBN):c.2070+1G>A	4683	NBN	Likely pathogenic	1554556454	RCV000580887\|RCV000671660;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958367	90958367	NC_000008.10:g.90958367C>T	ClinGen:CA371676311	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2070G>T (p.Lys690Asn)	4683	NBN	Uncertain significance	1810173689	RCV001295808;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958368	90958368	90958368	-
NM_002485.5(NBN):c.2070G>A (p.Lys690=)	4683	NBN	Uncertain significance	-1	RCV002422143\|RCV003098594;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958368	90958368		-
NM_002485.5(NBN):c.2069del (p.Lys690fs)	4683	NBN	Pathogenic	-1	RCV002866437;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958369	90958369	NC_000008.10:g.90958373del	-
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln)	4683	NBN	Uncertain significance	587780092	RCV000115787\|RCV000206186\|RCV000569267\|RCV003474714;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90958370	90958370	8:g.90958370T>G	ClinGen:CA287916	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2066A>G (p.Lys689Arg)	4683	NBN	Uncertain significance	1554556458	RCV001860092;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958372	90958372	8:g.90958372T>C	ClinGen:CA371676320	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2065A>G (p.Lys689Glu)	4683	NBN	Uncertain significance	1554556461	RCV001889436;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958373	90958373	90958373	-
NM_002485.5(NBN):c.2064C>A (p.Phe688Leu)	4683	NBN	Uncertain significance	-1	RCV002716333;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958374	90958374	NC_000008.10:g.90958374G>T	-
NM_002485.5(NBN):c.2064C>G (p.Phe688Leu)	4683	NBN	Uncertain significance	-1	RCV002994580;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958374	90958374	NC_000008.10:g.90958374G>C	-
NM_002485.5(NBN):c.2063T>G (p.Phe688Cys)	4683	NBN	Uncertain significance	1563512800	RCV000706693;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958375	90958375	NC_000008.10:g.90958375A>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2063T>C (p.Phe688Ser)	4683	NBN	Uncertain significance	1563512800	RCV001348021;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958375	90958375	90958375	-
NM_002485.5(NBN):c.2061A>G (p.Lys687=)	4683	NBN	Likely benign	758675398	RCV000571157\|RCV000876925;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958377	90958377	8:g.90958377T>C	ClinGen:CA4802624	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr)	4683	NBN	Uncertain significance	186371605	RCV000580181\|RCV000709061;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958378	90958378	8:g.90958378T>G	ClinGen:CA4802625	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2059A>T (p.Lys687Ter)	4683	NBN	Pathogenic	2130763590	RCV001996808;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958379	90958379	90958379	-
NM_002485.5(NBN):c.2058G>A (p.Lys686=)	4683	NBN	Likely benign	2130763599	RCV001482504;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958380	90958380	90958380	-
NM_002485.5(NBN):c.2058G>T (p.Lys686Asn)	4683	NBN	Uncertain significance	2130763599	RCV001929721;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958380	90958380	90958380	-
NM_002485.5(NBN):c.2049_2057del (p.Asn684_Lys686del)	4683	NBN	Uncertain significance	2130763620	RCV002009167;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958381	90958389	90958380	-
NM_002485.5(NBN):c.2056A>T (p.Lys686Ter)	4683	NBN	Pathogenic	786203920	RCV000167435\|RCV002516520;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958382	90958382	8:g.90958382T>A	ClinGen:CA198303	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2056A>G (p.Lys686Glu)	4683	NBN	Uncertain significance	786203920	RCV001052398;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958382	90958382	8:g.90958382T>C	-
NM_002485.5(NBN):c.2055C>G (p.Phe685Leu)	4683	NBN	Uncertain significance	765458801	RCV000810146\|RCV003344068;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958383	90958383	8:g.90958383G>C	-
NM_002485.5(NBN):c.2054T>C (p.Phe685Ser)	4683	NBN	Uncertain significance	1181142133	RCV000985873\|RCV001014246\|RCV001366480\|RCV003467538;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90958384	90958384	8:g.90958384A>G	-
NM_002485.5(NBN):c.2053T>C (p.Phe685Leu)	4683	NBN	Uncertain significance	768715280	RCV001014243\|RCV002549404;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958385	90958385	8:g.90958385A>G	-
NM_002485.5(NBN):c.2051dup (p.Asn684fs)	4683	NBN	Conflicting interpretations of pathogenicity	1586040200	RCV001014209\|RCV002551769;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958386	90958387	8:g.90958386_90958387insT	-
NM_002485.5(NBN):c.2051A>G (p.Asn684Ser)	4683	NBN	Uncertain significance	1554556477	RCV000561958\|RCV000800211;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958387	90958387	NC_000008.10:g.90958387T>C	ClinGen:CA371676357	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2049_2050delinsT (p.Lys683fs)	4683	NBN	Likely pathogenic	1057516869	RCV000410853;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958388	90958389	8:g.90958389_90958389del	ClinGen:CA16041202	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2050A>C (p.Asn684His)	4683	NBN	Uncertain significance	1810176238	RCV002558926;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958388	90958388	8:g.90958388T>G	-
NM_002485.5(NBN):c.2048A>G (p.Lys683Arg)	4683	NBN	Uncertain significance	2130763713	RCV001995621;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958390	90958390	90958390	-
NM_002485.5(NBN):c.2047A>T (p.Lys683Ter)	4683	NBN	Likely pathogenic	-1	RCV002309821;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958391	90958391	90958391	-
NM_002485.5(NBN):c.2046A>G (p.Leu682=)	4683	NBN	Likely benign	1554556481	RCV000566212\|RCV000636811;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958392	90958392	NC_000008.10:g.90958392T>C	ClinGen:CA461837651	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2045T>G (p.Leu682Arg)	4683	NBN	Uncertain significance	-1	RCV003020552;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958393	90958393	NC_000008.10:g.90958393A>C	-
NM_002485.5(NBN):c.2044C>T (p.Leu682=)	4683	NBN	Likely benign	1554556483	RCV000568497\|RCV002060475;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958394	90958394	8:g.90958394G>A	ClinGen:CA461837655	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2041C>T (p.Gln681Ter)	4683	NBN	Pathogenic	1554556485	RCV000567898\|RCV001858377;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958397	90958397	8:g.90958397G>A	ClinGen:CA371676380	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2041C>G (p.Gln681Glu)	4683	NBN	Uncertain significance	1554556485	RCV001233381;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958397	90958397	8:g.90958397G>C	-
NM_002485.5(NBN):c.2039G>T (p.Gly680Val)	4683	NBN	Uncertain significance	1425101720	RCV001014161\|RCV001238227;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958399	90958399	8:g.90958399C>A	-
NM_002485.5(NBN):c.2038G>A (p.Gly680Ser)	4683	NBN	Uncertain significance	200564603	RCV000204839\|RCV000220088\|RCV000505926;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90958400	90958400	NC_000008.10:g.90958400C>T	ClinGen:CA349023	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2030_2037dup (p.Gly680fs)	4683	NBN	Pathogenic/Likely pathogenic	1036111786	RCV001221956\|RCV003462754;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90958400	90958401	8:g.90958400_90958401insATAATCAT	-
NM_002485.5(NBN):c.2037T>C (p.Tyr679=)	4683	NBN	Likely benign	864622555	RCV000203858\|RCV001191354\|RCV001722127;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90958401	90958401	8:g.90958401A>G	ClinGen:CA348160	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2036A>G (p.Tyr679Cys)	4683	NBN	Uncertain significance	370295427	RCV000560001\|RCV000567272\|RCV003392378;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	8	90958402	90958402	NC_000008.10:g.90958402T>C	ClinGen:CA4802628	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2034T>C (p.Asp678=)	4683	NBN	Likely benign	769252040	RCV000222938\|RCV002054976;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958404	90958404	8:g.90958404A>G	ClinGen:CA4802629	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2029GAT[1] (p.Asp678del)	4683	NBN	Uncertain significance	1554556498	RCV000667632\|RCV000772514;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958404	90958406	8:g.90958404_90958406del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2033A>G (p.Asp678Gly)	4683	NBN	Uncertain significance	1810178166	RCV001063192;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958405	90958405	8:g.90958405T>C	-
NM_002485.5(NBN):c.2030A>T (p.Asp677Val)	4683	NBN	Uncertain significance	2130763851	RCV002036759;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958408	90958408	90958408	-
NM_002485.5(NBN):c.2030A>G (p.Asp677Gly)	4683	NBN	Uncertain significance	2130763851	RCV001922550;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958408	90958408	90958408	-
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)	4683	NBN	Conflicting interpretations of pathogenicity	730881856	RCV000160794\|RCV000205938\|RCV000235191\|RCV001788054\|RCV003317109;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90958409	90958409	NC_000008.10:g.90958409C>T	ClinGen:CA299630	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2027A>G (p.Asn676Ser)	4683	NBN	Uncertain significance	1404296922	RCV000573489\|RCV000794371;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958411	90958411	NC_000008.10:g.90958411T>C	ClinGen:CA371676413	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2023A>G (p.Ile675Val)	4683	NBN	Uncertain significance	1586040318	RCV000985872\|RCV001858631;	N	MedGen:CN517202\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958415	90958415	8:g.90958415T>C	-
NM_002485.5(NBN):c.2022C>T (p.Gly674=)	4683	NBN	Conflicting interpretations of pathogenicity	1554556503	RCV000636771\|RCV000773236;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958416	90958416	NC_000008.10:g.90958416G>A	ClinGen:CA461837692	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2021G>T (p.Gly674Val)	4683	NBN	Uncertain significance	1563513080	RCV000773353\|RCV001856045;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958417	90958417	NC_000008.10:g.90958417C>A	-
NM_002485.5(NBN):c.2020G>A (p.Gly674Ser)	4683	NBN	Likely benign	1563513091	RCV000988080;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958418	90958418	8:g.90958418C>T	-
NM_002485.5(NBN):c.2018C>G (p.Ser673Cys)	4683	NBN	Uncertain significance	1810179050	RCV001338810\|RCV002418996;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958420	90958420	90958420	-
NM_002485.5(NBN):c.2016A>G (p.Pro672=)	4683	NBN	Benign	1061302	RCV000162357\|RCV000243757\|RCV000393183\|RCV001706066\|RCV002225466\|RCV003315968;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|Human Phenotype Ontology:HP:00048	8	90958422	90958422	8:g.90958422T>C	ClinGen:CA186154	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2016A>C (p.Pro672=)	4683	NBN	Likely benign	1061302	RCV001502392\|RCV003346585;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958422	90958422	90958422	-
NM_002485.5(NBN):c.2016A>T (p.Pro672=)	4683	NBN	Likely benign	-1	RCV002417406\|RCV003101009;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958422	90958422		-
NM_002485.5(NBN):c.2015C>T (p.Pro672Leu)	4683	NBN	Conflicting interpretations of pathogenicity	6413508	RCV000234509\|RCV000568348\|RCV000788461;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90958423	90958423	8:g.90958423G>A	ClinGen:CA4802630	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2013T>C (p.Asn671=)	4683	NBN	Likely benign	1586040407	RCV001499305;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958425	90958425	8:g.90958425A>G	-
NM_002485.5(NBN):c.2013T>G (p.Asn671Lys)	4683	NBN	Uncertain significance	1586040407	RCV002012597;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958425	90958425	90958425	-
NM_002485.5(NBN):c.2012A>G (p.Asn671Ser)	4683	NBN	Uncertain significance	1563513183	RCV000706937\|RCV001014078;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958426	90958426	NC_000008.10:g.90958426T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2012A>C (p.Asn671Thr)	4683	NBN	Uncertain significance	1563513183	RCV001875518;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958426	90958426	90958426	-
NM_002485.5(NBN):c.2009G>A (p.Arg670Lys)	4683	NBN	Uncertain significance	1554556522	RCV000807866\|RCV003467425;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90958429	90958429	8:g.90958429C>T	-
NM_002485.5(NBN):c.2008A>G (p.Arg670Gly)	4683	NBN	Uncertain significance	876658488	RCV000213231\|RCV001828089;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958430	90958430	8:g.90958430T>C	ClinGen:CA10578747	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2007C>T (p.Ser669=)	4683	NBN	Likely benign	200399787	RCV000532268\|RCV000582241;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958431	90958431	NC_000008.10:g.90958431G>A	ClinGen:CA4802631	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2004T>C (p.Thr668=)	4683	NBN	Likely benign	1563513242	RCV002061117\|RCV003344036;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958434	90958434	NC_000008.10:g.90958434A>G	-
NM_002485.5(NBN):c.2004T>G (p.Thr668=)	4683	NBN	Likely benign	1563513242	RCV000976915\|RCV001014037;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958434	90958434	8:g.90958434A>C	-
NM_002485.5(NBN):c.2003C>T (p.Thr668Ile)	4683	NBN	Uncertain significance	876658336	RCV000215899\|RCV001800543;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958435	90958435	8:g.90958435G>A	ClinGen:CA10578748	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2003C>G (p.Thr668Ser)	4683	NBN	Uncertain significance	876658336	RCV001208843;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958435	90958435	8:g.90958435G>C	-
NM_002485.5(NBN):c.2002A>G (p.Thr668Ala)	4683	NBN	Uncertain significance	138913151	RCV000562305\|RCV000636746;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958436	90958436	NC_000008.10:g.90958436T>C	ClinGen:CA4802632	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.2000_2001del (p.Ser667fs)	4683	NBN	Likely pathogenic	1057516852	RCV000410892;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958437	90958438	8:g.90958437_90958438del	ClinGen:CA16041203	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2001T>C (p.Ser667=)	4683	NBN	Likely benign	1586040479	RCV001432791;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958437	90958437	8:g.90958437A>G	-
NM_002485.5(NBN):c.1986_2001del (p.Val663fs)	4683	NBN	Pathogenic	2129647483	RCV001381045;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958437	90958452	90958436	-
NM_002485.5(NBN):c.2000C>T (p.Ser667Phe)	4683	NBN	Uncertain significance	374638426	RCV001297668;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958438	90958438	90958438	-
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)	4683	NBN	Conflicting interpretations of pathogenicity	587780091	RCV000115786\|RCV000212753\|RCV000230585\|RCV000515337\|RCV001328956\|RCV001778709;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00	8	90958439	90958439	8:g.90958439A>G	ClinGen:CA287913	C0023449 613065 Acute lymphoid leukemia;
NM_002485.5(NBN):c.1998C>T (p.Asn666=)	4683	NBN	Likely benign	1057523508	RCV000436655\|RCV001459613;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958440	90958440	8:g.90958440G>A	ClinGen:CA16605423	CN169374 not specified;
NM_002485.5(NBN):c.1998C>G (p.Asn666Lys)	4683	NBN	Uncertain significance	1057523508	RCV001934642\|RCV003164149;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958440	90958440	90958440	-
NM_002485.5(NBN):c.1997A>C (p.Asn666Thr)	4683	NBN	Uncertain significance	2129647636	RCV001805544\|RCV002542406;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958441	90958441	90958441	-
NM_002485.5(NBN):c.1993A>G (p.Lys665Glu)	4683	NBN	Conflicting interpretations of pathogenicity	1554556544	RCV000570062\|RCV000684896;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958445	90958445	8:g.90958445T>C	ClinGen:CA371676482	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1993A>T (p.Lys665Ter)	4683	NBN	Pathogenic	1554556544	RCV001388858;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958445	90958445	90958445	-
NM_002485.5(NBN):c.1992dup (p.Lys665Ter)	4683	NBN	Pathogenic	2129647777	RCV001942161;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958445	90958446	90958445	-
NM_002485.5(NBN):c.1992T>C (p.Ile664=)	4683	NBN	Likely benign	1810182762	RCV001403900\|RCV002420901;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958446	90958446	90958446	-
NM_002485.5(NBN):c.1990A>T (p.Ile664Phe)	4683	NBN	Uncertain significance	2129647841	RCV002010282;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958448	90958448	90958448	-
NM_002485.5(NBN):c.1989G>A (p.Val663=)	4683	NBN	Conflicting interpretations of pathogenicity	757753217	RCV000162717\|RCV000931948\|RCV001503777;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958449	90958449	8:g.90958449C>T	ClinGen:CA186793	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1987G>C (p.Val663Leu)	4683	NBN	Uncertain significance	1554556547	RCV000556348;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958451	90958451	NC_000008.10:g.90958451C>G	ClinGen:CA371676495	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1987G>T (p.Val663Leu)	4683	NBN	Uncertain significance	1554556547	RCV001970682\|RCV002423166;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958451	90958451	90958451	-
NM_002485.5(NBN):c.1986G>A (p.Leu662=)	4683	NBN	Benign/Likely benign	571803328	RCV000163250\|RCV000471105\|RCV001711436;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90958452	90958452	8:g.90958452C>T	ClinGen:CA187850	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1985T>G (p.Leu662Arg)	4683	NBN	Uncertain significance	1810183362	RCV001342947\|RCV002419010;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958453	90958453	90958453	-
NM_002485.5(NBN):c.1983A>G (p.Ser661=)	4683	NBN	Likely benign	876658655	RCV000222022\|RCV001463175;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958455	90958455	8:g.90958455T>C	ClinGen:CA10578749	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1982C>T (p.Ser661Leu)	4683	NBN	Uncertain significance	1810183784	RCV001317621\|RCV002418960;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958456	90958456	90958456	-
NM_002485.5(NBN):c.1982C>G (p.Ser661Ter)	4683	NBN	Pathogenic	1810183784	RCV001897734;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958456	90958456	90958456	-
NM_002485.5(NBN):c.1980A>G (p.Arg660=)	4683	NBN	Likely benign	2129648040	RCV002198653;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958458	90958458	90958458	-
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr)	4683	NBN	Conflicting interpretations of pathogenicity	201781110	RCV000195616\|RCV000486313\|RCV000566063\|RCV001731429\|RCV003407708;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|	8	90958459	90958459	NC_000008.10:g.90958459C>G	ClinGen:CA335799	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1979G>A (p.Arg660Lys)	4683	NBN	Uncertain significance	201781110	RCV000213321\|RCV000695934\|RCV001812237;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90958459	90958459	8:g.90958459C>T	ClinGen:CA10578750	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1977T>C (p.Phe659=)	4683	NBN	Likely benign	2129648097	RCV001436111;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958461	90958461	90958461	-
NM_002485.5(NBN):c.1976T>G (p.Phe659Cys)	4683	NBN	Uncertain significance	1410677050	RCV000817079;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958462	90958462	8:g.90958462A>C	-
NM_002485.5(NBN):c.1975T>G (p.Phe659Val)	4683	NBN	Uncertain significance	1060503469	RCV000456698;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958463	90958463	NC_000008.10:g.90958463A>C	ClinGen:CA16612653	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1974del (p.Glu658fs)	4683	NBN	Pathogenic/Likely pathogenic	1057516668	RCV000411916\|RCV000566195\|RCV001008143\|RCV003470329;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90958464	90958464	NC_000008.10:g.90958465del	ClinGen:CA16041204	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1973A>G (p.Glu658Gly)	4683	NBN	Uncertain significance	587782155	RCV000130735\|RCV000543794\|RCV001547889;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90958465	90958465	8:g.90958465T>C	ClinGen:CA167004	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1968_1969del (p.Leu656fs)	4683	NBN	Likely pathogenic	-1	RCV002306600;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958469	90958470	90958468	-
NM_002485.5(NBN):c.1966T>C (p.Leu656=)	4683	NBN	Likely benign	878854508	RCV000772145\|RCV001412090;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958472	90958472	8:g.90958472A>G	ClinGen:CA10582593	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1963T>C (p.Leu655=)	4683	NBN	Likely benign	2129648442	RCV001466570;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958475	90958475	90958475	-
NM_002485.5(NBN):c.1961T>G (p.Leu654Arg)	4683	NBN	Uncertain significance	758728938	RCV000636769\|RCV002420712;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958477	90958477	NC_000008.10:g.90958477A>C	ClinGen:CA4802634	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1958dup (p.Leu654fs)	4683	NBN	Pathogenic/Likely pathogenic	780235686	RCV000554742\|RCV002420406\|RCV003470737;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90958479	90958480	NC_000008.10:g.90958485dup	ClinGen:CA4802635	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1959G>A (p.Lys653=)	4683	NBN	Likely benign	2129648549	RCV001496097;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958479	90958479	90958479	-
NM_002485.5(NBN):c.1954A>G (p.Lys652Glu)	4683	NBN	Uncertain significance	780360772	RCV000703677\|RCV002422587;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958484	90958484	8:g.90958484T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1952C>T (p.Pro651Leu)	4683	NBN	Uncertain significance	1554556572	RCV000542436;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958486	90958486	NC_000008.10:g.90958486G>A	ClinGen:CA371676661	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1951C>T (p.Pro651Ser)	4683	NBN	Uncertain significance	1810185871	RCV001859128;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958487	90958487	8:g.90958487G>A	-
NM_002485.5(NBN):c.1950T>C (p.Leu650=)	4683	NBN	Likely benign	2129648687	RCV002146429;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958488	90958488	90958488	-
NM_002485.5(NBN):c.1947G>A (p.Met649Ile)	4683	NBN	Uncertain significance	1554556579	RCV000572263\|RCV001071174\|RCV001821661;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90958491	90958491	NC_000008.10:g.90958491C>T	ClinGen:CA371676688	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1946T>C (p.Met649Thr)	4683	NBN	Uncertain significance	1554556582	RCV000590872\|RCV001041010\|RCV001013779;	N	MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958492	90958492	8:g.90958492A>G	ClinGen:CA371676695	CN235590 breast cancer;
NM_002485.5(NBN):c.1941T>A (p.Ser647Arg)	4683	NBN	Uncertain significance	1477953712	RCV000525296\|RCV000573162\|RCV001577433;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90958497	90958497	NC_000008.10:g.90958497A>T	ClinGen:CA371676724	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1941T>C (p.Ser647=)	4683	NBN	Likely benign	1477953712	RCV001445478;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958497	90958497	90958497	-
NM_002485.5(NBN):c.1939del (p.Ser647fs)	4683	NBN	Pathogenic	2129648967	RCV001386209;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958499	90958499	90958498	-
NM_002485.5(NBN):c.1936G>A (p.Asp646Asn)	4683	NBN	Uncertain significance	2129649024	RCV001524779\|RCV001872049;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958502	90958502	90958502	-
NM_002485.5(NBN):c.1935T>A (p.Asp645Glu)	4683	NBN	Uncertain significance	1172294340	RCV000816582;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958503	90958503	8:g.90958503A>T	-
NM_002485.5(NBN):c.1933G>A (p.Asp645Asn)	4683	NBN	Uncertain significance	1064796613	RCV000478655\|RCV001317951\|RCV002413340;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958505	90958505	8:g.90958505C>T	ClinGen:CA16618698	CN169374 not specified;
NM_002485.5(NBN):c.1933G>T (p.Asp645Tyr)	4683	NBN	Uncertain significance	1064796613	RCV000565372\|RCV001071353\|RCV001571743;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90958505	90958505	8:g.90958505C>A	ClinGen:CA371676770	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1932G>A (p.Gln644=)	4683	NBN	Likely benign	754783870	RCV000421334\|RCV001013639\|RCV001496045;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958506	90958506	8:g.90958506C>T	ClinGen:CA4802638	CN169374 not specified;
NM_002485.5(NBN):c.1932G>T (p.Gln644His)	4683	NBN	Uncertain significance	754783870	RCV001366139;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958506	90958506	90958506	-
NM_002485.5(NBN):c.1931A>G (p.Gln644Arg)	4683	NBN	Uncertain significance	1554556598	RCV000553376;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958507	90958507	NC_000008.10:g.90958507T>C	ClinGen:CA371676778	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1930C>A (p.Gln644Lys)	4683	NBN	Uncertain significance	764050423	RCV000564678\|RCV000588176\|RCV001345706;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958508	90958508	8:g.90958508G>T	ClinGen:CA181274836	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1927C>G (p.Leu643Val)	4683	NBN	Uncertain significance	1586040775	RCV001219743;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958511	90958511	8:g.90958511G>C	-
NM_002485.5(NBN):c.1927C>T (p.Leu643Phe)	4683	NBN	Uncertain significance	-1	RCV002644236;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958511	90958511	NC_000008.10:g.90958511G>A	-
NM_002485.5(NBN):c.1925A>G (p.Lys642Arg)	4683	NBN	Uncertain significance	587781547	RCV000129561\|RCV000204812\|RCV000206550\|RCV000780524;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807, Orphanet:1331\|MedGen:CN169374	8	90958513	90958513	8:g.90958513T>C	ClinGen:CA164668	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1923C>A (p.Asp641Glu)	4683	NBN	Uncertain significance	1563513669	RCV000698523;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958515	90958515	NC_000008.10:g.90958515G>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1923del (p.Asp641fs)	4683	NBN	Likely pathogenic	-1	RCV002310034;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958515	90958515	90958514	-
NM_002485.5(NBN):c.1922A>G (p.Asp641Gly)	4683	NBN	Uncertain significance	921235584	RCV000471777\|RCV000731912;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN517202	8	90958516	90958516	NC_000008.10:g.90958516T>C	ClinGen:CA16612357	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1921G>A (p.Asp641Asn)	4683	NBN	Uncertain significance	1586040820	RCV000807436;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958517	90958517	8:g.90958517C>T	-
NM_002485.5(NBN):c.1920T>C (p.Asn640=)	4683	NBN	Likely benign	1554556602	RCV000540756\|RCV003302807;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958518	90958518	NC_000008.10:g.90958518A>G	ClinGen:CA461837857	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1920T>A (p.Asn640Lys)	4683	NBN	Uncertain significance	1554556602	RCV001898422\|RCV002407015;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958518	90958518	90958518	-
NM_002485.5(NBN):c.1919A>G (p.Asn640Ser)	4683	NBN	Uncertain significance	748073091	RCV000167135\|RCV000204732\|RCV000483254;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90958519	90958519	8:g.90958519T>C	ClinGen:CA197577	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1919A>T (p.Asn640Ile)	4683	NBN	Uncertain significance	748073091	RCV001362385\|RCV003169811;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958519	90958519	90958519	-
NM_002485.5(NBN):c.1918A>G (p.Asn640Asp)	4683	NBN	Uncertain significance	1810188771	RCV001338456\|RCV002412057;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958520	90958520	90958520	-
NM_002485.5(NBN):c.1915-3dup	4683	NBN	Likely benign	2129649518	RCV001499850;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958524	90958525	90958524	-
NM_002485.5(NBN):c.1915-5T>G	4683	NBN	Conflicting interpretations of pathogenicity	1554556608	RCV000547745\|RCV001800748\|RCV003470736;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90958528	90958528	NC_000008.10:g.90958528A>C	ClinGen:CA658657785	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1915-7A>G	4683	NBN	Benign	2308962	RCV000251758\|RCV000363485\|RCV001711691\|RCV002225562\|RCV003316395;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:H	8	90958530	90958530	8:g.90958530T>C	ClinGen:CA4802639	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1915-8_1915-7inv	4683	NBN	Likely benign	-1	RCV001414357;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958530	90958531	NC_000008.10:g.90958530_90958531inv	-
NM_002485.5(NBN):c.1915-8C>T	4683	NBN	Conflicting interpretations of pathogenicity	368132097	RCV000579007\|RCV000636792\|RCV002257847;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90958531	90958531	8:g.90958531G>A	ClinGen:CA4802640	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1915-9C>T	4683	NBN	Likely benign	-1	RCV002894034;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958532	90958532	NC_000008.10:g.90958532G>A	-
NM_002485.5(NBN):c.1915-10C>G	4683	NBN	Uncertain significance	1586040877	RCV000813573;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958533	90958533	8:g.90958533G>C	-
NM_002485.5(NBN):c.1915-11C>T	4683	NBN	Likely benign	1053297568	RCV000679457\|RCV002066991;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958534	90958534	8:g.90958534G>A	-	CN517202 not provided;
NM_002485.5(NBN):c.1915-15T>G	4683	NBN	Uncertain significance	2129649793	RCV001872061;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958538	90958538	90958538	-
NM_002485.5(NBN):c.1915-16C>G	4683	NBN	Likely benign	-1	RCV003019709;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958539	90958539	NC_000008.10:g.90958539G>C	-
NM_002485.5(NBN):c.1915-18A>G	4683	NBN	Likely benign	-1	RCV002614333;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958541	90958541	NC_000008.10:g.90958541T>C	-
NM_002485.5(NBN):c.1915-19C>T	4683	NBN	Likely benign	1810190195	RCV002068260;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90958542	90958542	8:g.90958542G>A	-
NM_002485.5(NBN):c.1914+18_1914+21del	4683	NBN	Likely benign	773894616	RCV000478298\|RCV000774550\|RCV002063799;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960031	90960034	8:g.90960031_90960034del	ClinGen:CA4802658	CN169374 not specified;
NM_002485.5(NBN):c.1914+20T>G	4683	NBN	Likely benign	1459013677	RCV001191728\|RCV002560127;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960032	90960032	8:g.90960032A>C	-
NM_002485.5(NBN):c.1914+19A>C	4683	NBN	Likely benign	2129659201	RCV002099442;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960033	90960033	90960033	-
NM_002485.5(NBN):c.1914+16_1914+18del	4683	NBN	Likely benign	1437396256	RCV000584473\|RCV002061880;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960034	90960036	8:g.90960034_90960036del	ClinGen:CA583379408	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1914+18A>G	4683	NBN	Likely benign	2129659249	RCV002137132;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960034	90960034	90960034	-
NM_002485.5(NBN):c.1914+17T>C	4683	NBN	Likely benign	1275235372	RCV002120616;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960035	90960035	90960035	-
NM_002485.5(NBN):c.1914+16T>C	4683	NBN	Likely benign	755194571	RCV002092636;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960036	90960036	90960036	-
NM_002485.5(NBN):c.1914+10G>A	4683	NBN	Conflicting interpretations of pathogenicity	577706448	RCV000192466\|RCV000232925\|RCV000581136\|RCV000679456\|RCV001357262;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142	8	90960042	90960042	8:g.90960042C>T	ClinGen:CA205304	C0027672 Hereditary cancer-predisposing syndrome;
NC_000008.10:g.(?_90960042)_(90976745_?)del	4683	NBN	Pathogenic	-1	RCV003107698;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960042	90976745		-
NM_002485.5(NBN):c.1914+9C>T	4683	NBN	Benign	13312938	RCV000119107\|RCV000131005\|RCV000507886\|RCV000759170\|RCV001357373\|RCV002225344\|RCV003315698;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	8	90960043	90960043	8:g.90960043G>A	ClinGen:CA167541	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1914+8A>G	4683	NBN	Likely benign	2129659430	RCV001436901;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960044	90960044	90960044	-
NM_002485.5(NBN):c.1914+7A>T	4683	NBN	Likely benign	-1	RCV002957963;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960045	90960045	NC_000008.10:g.90960045T>A	-
NM_002485.5(NBN):c.1914+5G>A	4683	NBN	Uncertain significance	1586043509	RCV000804258;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960047	90960047	8:g.90960047C>T	-
NM_002485.5(NBN):c.1914+3G>A	4683	NBN	Uncertain significance	1554556878	RCV000573787\|RCV001205034;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960049	90960049	8:g.90960049C>T	ClinGen:CA658657786	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1914+2_1914+3del	4683	NBN	Conflicting interpretations of pathogenicity	1586043528	RCV000988081\|RCV001186720;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960049	90960050	8:g.90960049_90960050del	-
NM_002485.5(NBN):c.1914+2T>G	4683	NBN	Likely pathogenic	2129659522	RCV001377502;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960050	90960050	90960050	-
NM_002485.5(NBN):c.1911_1914+1del	4683	NBN	Conflicting interpretations of pathogenicity	1554556880	RCV000582963\|RCV000804835;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960051	90960055	8:g.90960051_90960055del	ClinGen:CA658683526	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1914+1G>T	4683	NBN	Likely pathogenic	-1	RCV003049650;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960051	90960051	NC_000008.10:g.90960051C>A	-
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr)	4683	NBN	Uncertain significance	756036331	RCV000165086\|RCV000473926\|RCV001589032\|RCV003317120\|RCV003474864;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90960053	90960053	8:g.90960053G>T	ClinGen:CA192486	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)	4683	NBN	Uncertain significance	199657566	RCV000129714\|RCV000214531\|RCV000229344\|RCV001193652\|RCV001354210;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MONDO:MONDO:0016248,MedGen:C5679802, Orphanet:213517	8	90960054	90960054	8:g.90960054A>G	ClinGen:CA164965	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1912del (p.Ser638fs)	4683	NBN	Pathogenic	-1	RCV002847761;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960054	90960054	NC_000008.10:g.90960054del	-
NM_002485.5(NBN):c.1911A>G (p.Ile637Met)	4683	NBN	Uncertain significance	372877871	RCV001034923;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960055	90960055	8:g.90960055T>C	-
NM_002485.5(NBN):c.1910T>A (p.Ile637Lys)	4683	NBN	Uncertain significance	876658613	RCV000221383\|RCV000795459;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960056	90960056	8:g.90960056A>T	ClinGen:CA10578751	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter)	4683	NBN	Conflicting interpretations of pathogenicity	1563516254	RCV000779565\|RCV002406705;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960056	90960057	NC_000008.10:g.90960056_90960057delinsTA	-
NM_002485.5(NBN):c.1908A>C (p.Glu636Asp)	4683	NBN	Uncertain significance	1563516272	RCV000697007;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960058	90960058	NC_000008.10:g.90960058T>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1908A>G (p.Glu636=)	4683	NBN	Likely benign	-1	RCV002408385\|RCV003097341;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960058	90960058		-
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)	4683	NBN	Pathogenic/Likely pathogenic	587782545	RCV000131755\|RCV000227700\|RCV000219708\|RCV000763606\|RCV003467185;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotyp	8	90960063	90960063	8:g.90960063T>A	ClinGen:CA168703	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1903A>G (p.Lys635Glu)	4683	NBN	Uncertain significance	587782545	RCV001247748;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960063	90960063	8:g.90960063T>C	-
NM_002485.5(NBN):c.1902T>G (p.Ala634=)	4683	NBN	Likely benign	876660052	RCV000219178\|RCV000988082\|RCV001706240;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90960064	90960064	8:g.90960064A>C	ClinGen:CA10578752	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1902T>C (p.Ala634=)	4683	NBN	Likely benign	876660052	RCV000636793\|RCV001013625;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960064	90960064	NC_000008.10:g.90960064A>G	ClinGen:CA461839077	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1900G>A (p.Ala634Thr)	4683	NBN	Uncertain significance	1554556892	RCV000534847;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960066	90960066	NC_000008.10:g.90960066C>T	ClinGen:CA371677210	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1898C>T (p.Ser633Leu)	4683	NBN	Uncertain significance	1554556897	RCV000636720\|RCV001013546;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960068	90960068	NC_000008.10:g.90960068G>A	ClinGen:CA371677211	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1897T>G (p.Ser633Ala)	4683	NBN	Uncertain significance	-1	RCV002408146\|RCV003100923;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960069	90960069	90960069	-
NM_002485.5(NBN):c.1896G>T (p.Trp632Cys)	4683	NBN	Uncertain significance	1221760506	RCV000821475;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960070	90960070	8:g.90960070C>A	-
NM_002485.5(NBN):c.1896del (p.Trp632fs)	4683	NBN	Likely pathogenic	-1	RCV002310126;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960070	90960070	90960069	-
NM_002485.5(NBN):c.1896G>A (p.Trp632Ter)	4683	NBN	Pathogenic	-1	RCV002875551\|RCV003167840;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960070	90960070	NC_000008.10:g.90960070C>T	-
NM_002485.5(NBN):c.1895G>A (p.Trp632Ter)	4683	NBN	Pathogenic	2129659855	RCV001999711\|RCV002407175;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960071	90960071	90960071	-
NM_002485.5(NBN):c.1894T>C (p.Trp632Arg)	4683	NBN	Uncertain significance	1586043635	RCV000985871\|RCV001013520\|RCV001050061\|RCV003467537;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90960072	90960072	8:g.90960072A>G	-
NM_002485.5(NBN):c.1893A>G (p.Leu631=)	4683	NBN	Likely benign	778364604	RCV000435708\|RCV000564388\|RCV000636818\|RCV001172188;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90960073	90960073	8:g.90960073T>C	ClinGen:CA4802661	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1891C>G (p.Leu631Val)	4683	NBN	Conflicting interpretations of pathogenicity	1064793477	RCV000486410\|RCV001013475\|RCV001309682;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960075	90960075	8:g.90960075G>C	ClinGen:CA16618699	CN169374 not specified;
NM_002485.5(NBN):c.1891C>T (p.Leu631=)	4683	NBN	Conflicting interpretations of pathogenicity	1064793477	RCV002117124\|RCV002409504;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960075	90960075	90960075	-
NM_002485.5(NBN):c.1890A>C (p.Ser630=)	4683	NBN	Benign/Likely benign	587780778	RCV000163378\|RCV000679455\|RCV001089196\|RCV001192403;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90960076	90960076	8:g.90960076T>G	ClinGen:CA188132	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1889C>A (p.Ser630Ter)	4683	NBN	Pathogenic	1810267412	RCV001947519\|RCV002406960;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960077	90960077	90960077	-
NM_002485.5(NBN):c.1889C>T (p.Ser630Leu)	4683	NBN	Uncertain significance	1810267412	RCV002026644\|RCV002407310;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960077	90960077	90960077	-
NM_002485.5(NBN):c.1888T>C (p.Ser630Pro)	4683	NBN	Uncertain significance	377132067	RCV000194251\|RCV000206789\|RCV000561571\|RCV000766498;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90960078	90960078	8:g.90960078A>G	ClinGen:CA208304	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1886A>C (p.Asp629Ala)	4683	NBN	Uncertain significance	1586043675	RCV000814763;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960080	90960080	8:g.90960080T>G	-
NM_002485.5(NBN):c.1886A>G (p.Asp629Gly)	4683	NBN	Uncertain significance	1586043675	RCV001162815;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960080	90960080	8:g.90960080T>C	-
NM_002485.5(NBN):c.1885G>T (p.Asp629Tyr)	4683	NBN	Uncertain significance	745559078	RCV000462714\|RCV001764447;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN517202	8	90960081	90960081	NC_000008.10:g.90960081C>A	ClinGen:CA16612655	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)	4683	NBN	Pathogenic/Likely pathogenic	1178384498	RCV000582656\|RCV000795888\|RCV001770534\|RCV003471931;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90960081	90960084	NC_000008.10:g.90960084_90960087del	ClinGen:CA583379410	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1885G>A (p.Asp629Asn)	4683	NBN	Uncertain significance	745559078	RCV002014959;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960081	90960081	90960081	-
NM_002485.5(NBN):c.1884A>G (p.Glu628=)	4683	NBN	Likely benign	771709611	RCV001477589;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960082	90960082	90960082	-
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys)	4683	NBN	Benign/Likely benign	115321485	RCV000131006\|RCV000212752\|RCV000224857\|RCV001084223\|RCV002225345\|RCV002498542\|RCV003315700;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0009623,MedGen:C03987	8	90960084	90960084	8:g.90960084C>T	ClinGen:CA294275	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1881G>T (p.Lys627Asn)	4683	NBN	Uncertain significance	2129660206	RCV001969187;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960085	90960085	90960085	-
NM_002485.5(NBN):c.1880A>T (p.Lys627Met)	4683	NBN	Uncertain significance	762174459	RCV000199176;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960086	90960086	8:g.90960086T>A	ClinGen:CA338447	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1880A>G (p.Lys627Arg)	4683	NBN	Uncertain significance	762174459	RCV000214447\|RCV000232800\|RCV002272179;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90960086	90960086	8:g.90960086T>C	ClinGen:CA4802664	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1877T>G (p.Leu626Arg)	4683	NBN	Uncertain significance	1237629649	RCV000636700\|RCV001013503;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960089	90960089	NC_000008.10:g.90960089A>C	ClinGen:CA371677254	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1874A>G (p.Glu625Gly)	4683	NBN	Uncertain significance	1554556929	RCV000636714\|RCV002406368;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960092	90960092	NC_000008.10:g.90960092T>C	ClinGen:CA371677263	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1874A>C (p.Glu625Ala)	4683	NBN	Uncertain significance	-1	RCV002297163;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960092	90960092	90960092	-
NM_002485.5(NBN):c.1873G>A (p.Glu625Lys)	4683	NBN	Uncertain significance	369049359	RCV000466304\|RCV000775379;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960093	90960093	NC_000008.10:g.90960093C>T	ClinGen:CA16612359	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1871_1873del (p.Arg624_Glu625delinsGln)	4683	NBN	Uncertain significance	1554556932	RCV000550938;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960093	90960095	NC_000008.10:g.90960093_90960095del	ClinGen:CA658657787	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1871G>A (p.Arg624His)	4683	NBN	Uncertain significance	587782297	RCV000131180\|RCV000197335\|RCV000212751\|RCV003467165;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90960095	90960095	8:g.90960095C>T	ClinGen:CA294312	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1871G>T (p.Arg624Leu)	4683	NBN	Uncertain significance	587782297	RCV000572017\|RCV001068570;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960095	90960095	8:g.90960095C>A	ClinGen:CA371677268	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1870C>T (p.Arg624Cys)	4683	NBN	Conflicting interpretations of pathogenicity	962092255	RCV000565273\|RCV000687082\|RCV003465269;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90960096	90960096	8:g.90960096G>A	ClinGen:CA181275404	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1870C>G (p.Arg624Gly)	4683	NBN	Uncertain significance	962092255	RCV001337645\|RCV002412054;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960096	90960096	90960096	-
NM_002485.5(NBN):c.1869A>G (p.Lys623=)	4683	NBN	Likely benign	2129660412	RCV001392081;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960097	90960097	90960097	-
NM_002485.5(NBN):c.1868A>G (p.Lys623Arg)	4683	NBN	Uncertain significance	1810269932	RCV001037324;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960098	90960098	8:g.90960098T>C	-
NM_002485.5(NBN):c.1866G>C (p.Lys622Asn)	4683	NBN	Uncertain significance	587782221	RCV000130912\|RCV000167920;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960100	90960100	8:g.90960100C>G	ClinGen:CA167364	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1865A>G (p.Lys622Arg)	4683	NBN	Uncertain significance	1381148233	RCV001900639;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960101	90960101	90960101	-
NM_002485.5(NBN):c.1861G>A (p.Gly621Arg)	4683	NBN	Uncertain significance	1810270617	RCV001068022;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960105	90960105	8:g.90960105C>T	-
NM_002485.5(NBN):c.1860T>C (p.Ile620=)	4683	NBN	Likely benign	1060504927	RCV000468060;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960106	90960106	NC_000008.10:g.90960106A>G	ClinGen:CA16612464	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1860del (p.Ile620fs)	4683	NBN	Pathogenic	1810270891	RCV001227171;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960106	90960106	8:g.90960106_90960106del	-
NM_002485.5(NBN):c.1858A>G (p.Ile620Val)	4683	NBN	Uncertain significance	1810270999	RCV001309694;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960108	90960108	90960108	-
NM_002485.5(NBN):c.1854_1857del (p.Asn618fs)	4683	NBN	Pathogenic	1060503466	RCV000475546\|RCV001013351;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960109	90960112	NC_000008.10:g.90960111_90960114del	ClinGen:CA16612531	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1856A>C (p.Glu619Ala)	4683	NBN	Uncertain significance	763546746	RCV000985870\|RCV001244246\|RCV002409315;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960110	90960110	8:g.90960110T>G	-
NM_002485.5(NBN):c.1854T>C (p.Asn618=)	4683	NBN	Likely benign	2129660657	RCV002209070;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960112	90960112	90960112	-
NM_002485.5(NBN):c.1851A>C (p.Glu617Asp)	4683	NBN	Uncertain significance	1660299603	RCV001177958\|RCV001875869;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960115	90960115	8:g.90960115T>G	-
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys)	4683	NBN	Uncertain significance	766602873	RCV000219280\|RCV000460678\|RCV001290554\|RCV003469004;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90960117	90960117	8:g.90960117C>T	ClinGen:CA4802667	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1849G>C (p.Glu617Gln)	4683	NBN	Uncertain significance	766602873	RCV000817787;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960117	90960117	8:g.90960117C>G	-
NM_002485.5(NBN):c.1849G>T (p.Glu617Ter)	4683	NBN	Pathogenic	766602873	RCV001238488;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960117	90960117	8:g.90960117C>A	-
NM_002485.5(NBN):c.1848A>G (p.Gln616=)	4683	NBN	Uncertain significance	587782269	RCV000131012\|RCV000469755\|RCV001753516;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90960118	90960118	8:g.90960118T>C	ClinGen:CA167547	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1848del (p.Glu617fs)	4683	NBN	Pathogenic/Likely pathogenic	1057516611	RCV000411194\|RCV001525393\|RCV003470328;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90960118	90960118	8:g.90960118_90960118del	ClinGen:CA16041205	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1846-1G>A	4683	NBN	Conflicting interpretations of pathogenicity	61753717	RCV000411891\|RCV000572719\|RCV003168596;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	8	90960121	90960121	8:g.90960121C>T	ClinGen:CA16041206	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1846-5_1846-2dup	4683	NBN	Uncertain significance	1554556962	RCV000665021;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960121	90960122	8:g.90960121_90960122insTAAA	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1846-1G>T	4683	NBN	Likely pathogenic	61753717	RCV001043646;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960121	90960121	8:g.90960121C>A	-
NM_002485.5(NBN):c.1846-3T>C	4683	NBN	Uncertain significance	1810272337	RCV001236992\|RCV002411875;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960123	90960123	8:g.90960123A>G	-
NM_002485.5(NBN):c.1846-6C>T	4683	NBN	Likely benign	1586043853	RCV001477830;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960126	90960126	8:g.90960126G>A	-
NM_002485.5(NBN):c.1846-11_1846-7del	4683	NBN	Conflicting interpretations of pathogenicity	1060504925	RCV000595480\|RCV000775765\|RCV001088838;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960127	90960131	NC_000008.10:g.90960130TAAAA[1]	ClinGen:CA16612658	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1846-7T>G	4683	NBN	Likely benign	2129660876	RCV002083943;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960127	90960127	90960127	-
NM_002485.5(NBN):c.1846-9T>C	4683	NBN	Likely benign	1554556966	RCV000533776\|RCV001189373;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90960129	90960129	NC_000008.10:g.90960129A>G	ClinGen:CA658657788	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1846-10A>T	4683	NBN	Likely benign	2129660939	RCV001467613;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960130	90960130	90960130	-
NM_002485.5(NBN):c.1846-10A>G	4683	NBN	Likely benign	2129660939	RCV001474464;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960130	90960130	90960130	-
NM_002485.5(NBN):c.1846-17_1846-11del	4683	NBN	Uncertain significance	-1	RCV003036484;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960131	90960137	NC_000008.10:g.90960137_90960143del	-
NM_002485.5(NBN):c.1846-14T>C	4683	NBN	Likely benign	2129661007	RCV002215450;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90960134	90960134	90960134	-
NM_002485.5(NBN):c.1845+19G>A	4683	NBN	Likely benign	1810518461	RCV002068269;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965453	90965453	8:g.90965453C>T	-
NM_002485.5(NBN):c.1845+17A>G	4683	NBN	Likely benign	1810518657	RCV001876085;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965455	90965455	8:g.90965455T>C	-
NM_002485.5(NBN):c.1845+13T>C	4683	NBN	Likely benign	1339779522	RCV002067922;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965459	90965459	8:g.90965459A>G	-
NM_002485.5(NBN):c.1845+10A>G	4683	NBN	Conflicting interpretations of pathogenicity	570914185	RCV000927165\|RCV001401955\|RCV001818889;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90965462	90965462	8:g.90965462T>C	-
NM_002485.5(NBN):c.1845+9C>T	4683	NBN	Likely benign	1586052588	RCV001446228;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965463	90965463	8:g.90965463G>A	-
NM_002485.5(NBN):c.1845+9C>G	4683	NBN	Likely benign	-1	RCV003039703;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965463	90965463	NC_000008.10:g.90965463G>C	-
NM_002485.5(NBN):c.1845+5_1845+8del	4683	NBN	Uncertain significance	1563524615	RCV000705348\|RCV003465634;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965464	90965467	NC_000008.10:g.90965464TTAC[1]	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1845+8A>G	4683	NBN	Likely benign	757994058	RCV002176642;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965464	90965464	90965464	-
NM_002485.5(NBN):c.1845+6T>C	4683	NBN	Uncertain significance	1033050295	RCV000689586;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965466	90965466	8:g.90965466A>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1845+3A>G	4683	NBN	Uncertain significance	587780777	RCV000123209\|RCV000565150\|RCV002281950;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90965469	90965469	8:g.90965469T>C	ClinGen:CA332819	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1845+2dup	4683	NBN	Uncertain significance	1586052628	RCV000802638\|RCV001013375;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965469	90965470	8:g.90965469_90965470insA	-
NM_002485.5(NBN):c.1845+2T>C	4683	NBN	Likely pathogenic	1586052622	RCV000800755;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965470	90965470	8:g.90965470A>G	-
NM_002485.5(NBN):c.1845+2T>G	4683	NBN	Likely pathogenic	-1	RCV003047186;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965470	90965470	NC_000008.10:g.90965470A>C	-
NM_002485.5(NBN):c.1845+1G>A	4683	NBN	Likely pathogenic	2129695663	RCV001818104\|RCV002406900\|RCV001885361;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965471	90965471	90965471	-
NM_002485.5(NBN):c.1845T>C (p.Ser615=)	4683	NBN	Conflicting interpretations of pathogenicity	1810519877	RCV001206590\|RCV002411760;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965472	90965472	8:g.90965472A>G	-
NM_002485.5(NBN):c.1844C>T (p.Ser615Phe)	4683	NBN	Uncertain significance	1810520002	RCV001039183;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965473	90965473	8:g.90965473G>A	-
NM_002485.5(NBN):c.1844C>G (p.Ser615Cys)	4683	NBN	Uncertain significance	-1	RCV002797212;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965473	90965473	NC_000008.10:g.90965473G>C	-
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro)	4683	NBN	Uncertain significance	746632073	RCV000471606\|RCV000483350\|RCV000569351\|RCV001290536\|RCV003476116;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90965474	90965474	NC_000008.10:g.90965474A>G	ClinGen:CA4802679	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1842A>G (p.Ile614Met)	4683	NBN	Uncertain significance	770345026	RCV000483770\|RCV000551607\|RCV000567792\|RCV000985869;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90965475	90965475	8:g.90965475T>C	ClinGen:CA4802680	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1841T>C (p.Ile614Thr)	4683	NBN	Uncertain significance	1586052647	RCV000801397\|RCV003166205;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965476	90965476	8:g.90965476A>G	-
NM_002485.5(NBN):c.1837A>G (p.Lys613Glu)	4683	NBN	Uncertain significance	1554558199	RCV000569440\|RCV001040493;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965480	90965480	NC_000008.10:g.90965480T>C	ClinGen:CA371654978	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter)	4683	NBN	Pathogenic	1554558199	RCV001863317\|RCV002406928;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965480	90965480	90965480	-
NM_002485.5(NBN):c.1833T>C (p.Ser611=)	4683	NBN	Likely benign	1554558203	RCV000615305\|RCV001483627;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965484	90965484	8:g.90965484A>G	ClinGen:CA462114533	CN169374 not specified;
NM_002485.5(NBN):c.1830A>G (p.Glu610=)	4683	NBN	Likely benign	2129695896	RCV001456682;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965487	90965487	90965487	-
NM_002485.5(NBN):c.1828G>A (p.Glu610Lys)	4683	NBN	Uncertain significance	-1	RCV002705553;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965489	90965489	NC_000008.10:g.90965489C>T	-
NM_002485.5(NBN):c.1825C>A (p.Pro609Thr)	4683	NBN	Uncertain significance	372012641	RCV000206603\|RCV000563298;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965492	90965492	8:g.90965492G>T	ClinGen:CA350617	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1825C>T (p.Pro609Ser)	4683	NBN	Uncertain significance	372012641	RCV001201882;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965492	90965492	8:g.90965492G>A	-
NM_002485.5(NBN):c.1821A>G (p.Ala607=)	4683	NBN	Likely benign	1554558213	RCV000636812;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965496	90965496	NC_000008.10:g.90965496T>C	ClinGen:CA462114541	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1820C>T (p.Ala607Val)	4683	NBN	Uncertain significance	1810521873	RCV001221049;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965497	90965497	8:g.90965497G>A	-
NM_002485.5(NBN):c.1818A>G (p.Glu606=)	4683	NBN	Likely benign	-1	RCV002801218;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965499	90965499		-
NM_002485.5(NBN):c.1816G>A (p.Glu606Lys)	4683	NBN	Uncertain significance	774324419	RCV000166446\|RCV000586042\|RCV000636773;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965501	90965501	8:g.90965501C>T	ClinGen:CA195896	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1812T>A (p.Ser604Arg)	4683	NBN	Uncertain significance	-1	RCV002295894;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965505	90965505	90965505	-
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)	4683	NBN	Conflicting interpretations of pathogenicity	192236678	RCV000164543\|RCV000424535\|RCV000589243\|RCV001030565\|RCV001081367\|RCV001357000;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0007254,MedGen:C00061	8	90965508	90965508	8:g.90965508G>T	ClinGen:CA191232	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1809C>T (p.Phe603=)	4683	NBN	Likely benign	-1	RCV002823720;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965508	90965508		-
NM_002485.5(NBN):c.1808T>G (p.Phe603Cys)	4683	NBN	Uncertain significance	1810522468	RCV002248032\|RCV003093988\|RCV002409626;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965509	90965509	90965509	-
NM_002485.5(NBN):c.1806T>A (p.Thr602=)	4683	NBN	Likely benign	1477618624	RCV001431654;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965511	90965511	90965511	-
NM_002485.5(NBN):c.1805C>G (p.Thr602Ser)	4683	NBN	Uncertain significance	1563524801	RCV001351644;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965512	90965512	NC_000008.10:g.90965512G>C	-
NM_002485.5(NBN):c.1805C>T (p.Thr602Ile)	4683	NBN	Uncertain significance	1563524801	RCV001013242\|RCV001314073;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965512	90965512	8:g.90965512G>A	-
NM_002485.5(NBN):c.1803C>G (p.Asp601Glu)	4683	NBN	Uncertain significance	2129696348	RCV001948545;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965514	90965514	90965514	-
NM_002485.5(NBN):c.1802A>G (p.Asp601Gly)	4683	NBN	Conflicting interpretations of pathogenicity	553571469	RCV001217851\|RCV002411808;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965515	90965515	8:g.90965515T>C	-
NM_002485.5(NBN):c.1797A>G (p.Thr599=)	4683	NBN	Likely benign	1810523208	RCV001200309\|RCV002069293;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965520	90965520	8:g.90965520T>C	-
NM_002485.5(NBN):c.1796C>G (p.Thr599Arg)	4683	NBN	Conflicting interpretations of pathogenicity	775848374	RCV000215909\|RCV000534730\|RCV003153514;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	8	90965521	90965521	8:g.90965521G>C	ClinGen:CA4802684	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1796C>T (p.Thr599Ile)	4683	NBN	Uncertain significance	775848374	RCV000797402;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965521	90965521	8:g.90965521G>A	-
NM_002485.5(NBN):c.1795A>G (p.Thr599Ala)	4683	NBN	Uncertain significance	878854507	RCV000229725;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965522	90965522	8:g.90965522T>C	ClinGen:CA10582594	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1791A>G (p.Ile597Met)	4683	NBN	Uncertain significance	1810523727	RCV001348627\|RCV001751680;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN517202	8	90965526	90965526	90965526	-
NM_002485.5(NBN):c.1789A>G (p.Ile597Val)	4683	NBN	Uncertain significance	864622167	RCV000205939\|RCV001183452;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965528	90965528	8:g.90965528T>C	ClinGen:CA350030	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1789A>T (p.Ile597Leu)	4683	NBN	Uncertain significance	864622167	RCV000772164\|RCV001800869\|RCV002282362;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90965528	90965528	NC_000008.10:g.90965528T>A	-
NM_002485.5(NBN):c.1787_1788insC (p.Ile597fs)	4683	NBN	Pathogenic	1586052851	RCV000817780\|RCV003166371;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965529	90965530	8:g.90965529_90965530insG	-
NM_002485.5(NBN):c.1787A>T (p.Asp596Val)	4683	NBN	Uncertain significance	1005715125	RCV001013181\|RCV001241999\|RCV003238265;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90965530	90965530	8:g.90965530T>A	-
NM_002485.5(NBN):c.1787A>G (p.Asp596Gly)	4683	NBN	Uncertain significance	1005715125	RCV001069753\|RCV001759846\|RCV002411609;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965530	90965530	8:g.90965530T>C	-
NM_002485.5(NBN):c.1786G>A (p.Asp596Asn)	4683	NBN	Uncertain significance	1467034784	RCV001231153;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965531	90965531	8:g.90965531C>T	-
NM_002485.5(NBN):c.1786G>C (p.Asp596His)	4683	NBN	Uncertain significance	1467034784	RCV001349814;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965531	90965531	90965531	-
NM_002485.5(NBN):c.1785G>A (p.Met595Ile)	4683	NBN	Uncertain significance	1586052885	RCV000815451;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965532	90965532	8:g.90965532C>T	-
NM_002485.5(NBN):c.1783A>G (p.Met595Val)	4683	NBN	Uncertain significance	2129696684	RCV001770714\|RCV002477943\|RCV003289072;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065, Orphanet:513; MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human P	8	90965534	90965534	90965534	-
NM_002485.5(NBN):c.1782G>A (p.Arg594=)	4683	NBN	Likely benign	1810524788	RCV001493230;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965535	90965535	90965535	-
NM_002485.5(NBN):c.1780A>G (p.Arg594Gly)	4683	NBN	Uncertain significance	1554558241	RCV000580378\|RCV001218433;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965537	90965537	8:g.90965537T>C	ClinGen:CA371655109	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1780del (p.Arg594fs)	4683	NBN	Pathogenic	1586052920	RCV000812953;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965537	90965537	8:g.90965537_90965537del	-
NM_002485.5(NBN):c.1778_1779insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGT	4683	NBN	Pathogenic	2129696816	RCV001390472;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965538	90965539	90965538	-
NM_002485.5(NBN):c.1779A>G (p.Pro593=)	4683	NBN	Likely benign	2129696801	RCV002078207;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965538	90965538	90965538	-
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)	4683	NBN	Conflicting interpretations of pathogenicity	146989944	RCV000115785\|RCV000212750\|RCV000656929\|RCV000988083;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965540	90965540	8:g.90965540G>C	ClinGen:CA287910	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1777C>A (p.Pro593Thr)	4683	NBN	Uncertain significance	146989944	RCV001013108\|RCV001827182;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965540	90965540	8:g.90965540G>T	-
NM_002485.5(NBN):c.1776G>T (p.Arg592Ser)	4683	NBN	Uncertain significance	1554558244	RCV000558525;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965541	90965541	NC_000008.10:g.90965541C>A	ClinGen:CA371655116	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1774A>G (p.Arg592Gly)	4683	NBN	Uncertain significance	1554558245	RCV000636776;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965543	90965543	NC_000008.10:g.90965543T>C	ClinGen:CA371655121	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1770A>T (p.Arg590Ser)	4683	NBN	Uncertain significance	1586053003	RCV000824343\|RCV002397743;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965547	90965547	8:g.90965547T>A	-
NM_002485.5(NBN):c.1770A>G (p.Arg590=)	4683	NBN	Likely benign	1586053003	RCV001500139;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965547	90965547	8:g.90965547T>C	-
NM_002485.5(NBN):c.1769del (p.Arg590fs)	4683	NBN	Pathogenic	1563525004	RCV000694299\|RCV002397412;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965548	90965548	NC_000008.10:g.90965548del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1769G>C (p.Arg590Thr)	4683	NBN	Uncertain significance	1563524967	RCV000781640\|RCV001873193;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965548	90965548	NC_000008.10:g.90965548C>G	-
NM_002485.5(NBN):c.1769G>A (p.Arg590Lys)	4683	NBN	Uncertain significance	-1	RCV003033998;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965548	90965548	NC_000008.10:g.90965548C>T	-
NM_002485.5(NBN):c.1767del (p.Arg590fs)	4683	NBN	Likely pathogenic	-1	RCV002308284;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965550	90965550	90965549	-
NM_002485.5(NBN):c.1764T>C (p.Asn588=)	4683	NBN	Likely benign	1554558253	RCV000569822\|RCV001452957;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965553	90965553	NC_000008.10:g.90965553A>G	ClinGen:CA462114572	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser)	4683	NBN	Uncertain significance	876658681	RCV000218049\|RCV000545718\|RCV001264445\|RCV001562276\|RCV003469009;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90965554	90965554	8:g.90965554T>C	ClinGen:CA10578753	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1761C>T (p.Val587=)	4683	NBN	Likely benign	769773789	RCV000225830\|RCV000570387\|RCV001705258\|RCV003226262;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	8	90965556	90965556	NC_000008.10:g.90965556G>A	ClinGen:CA10582595	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1700_1760dup (p.Val587_Asn588insGlnGlyHisLysThrArgValArgAsnTer)	4683	NBN	Pathogenic	1810527499	RCV001204074;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965556	90965557	8:g.90965556_90965557insACATCTTCCTCCTGTTTTTGAACTTTCACATCAATTTCTAACTCTGGTTTTGTGTCCTTGA	-
NM_002485.5(NBN):c.1759G>A (p.Val587Ile)	4683	NBN	Uncertain significance	1586053076	RCV000814255;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965558	90965558	8:g.90965558C>T	-
NM_002485.5(NBN):c.1757A>G (p.Asp586Gly)	4683	NBN	Uncertain significance	1810527909	RCV001349456;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965560	90965560	8:g.90965560T>C	-
NM_002485.5(NBN):c.1757A>T (p.Asp586Val)	4683	NBN	Uncertain significance	1810527909	RCV002007658;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965560	90965560	90965560	-
NM_002485.5(NBN):c.1756G>C (p.Asp586His)	4683	NBN	Uncertain significance	786202588	RCV000165470\|RCV001221587;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965561	90965561	8:g.90965561C>G	ClinGen:CA193486	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1755A>G (p.Glu585=)	4683	NBN	Likely benign	-1	RCV003084875;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965562	90965562		-
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)	4683	NBN	Conflicting interpretations of pathogenicity	763926389	RCV000461649\|RCV000567576\|RCV000679454\|RCV001358087\|RCV002282161\|RCV002475888;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,Med	8	90965563	90965563	NC_000008.10:g.90965563T>C	ClinGen:CA4802685	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1749GGA[1] (p.Glu585del)	4683	NBN	Uncertain significance	1554558265	RCV000669632\|RCV002406510;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965563	90965565	8:g.90965563_90965565del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1752G>C (p.Glu584Asp)	4683	NBN	Uncertain significance	1554558267	RCV000533101;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965565	90965565	NC_000008.10:g.90965565C>G	ClinGen:CA371655171	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1752G>A (p.Glu584=)	4683	NBN	Likely benign	1554558267	RCV001423095;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965565	90965565	90965565	-
NM_002485.5(NBN):c.1750G>T (p.Glu584Ter)	4683	NBN	Pathogenic	1554558270	RCV000636737;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965567	90965567	NC_000008.10:g.90965567C>A	ClinGen:CA371655176	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1747dup (p.Gln583fs)	4683	NBN	Pathogenic	1810529464	RCV001218804;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965569	90965570	8:g.90965569_90965570insG	-
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)	4683	NBN	Pathogenic/Likely pathogenic	864622143	RCV000217030\|RCV000206506\|RCV001753608\|RCV002478725\|RCV003468931;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotyp	8	90965570	90965570	8:g.90965570G>A	ClinGen:CA350525	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1746A>G (p.Lys582=)	4683	NBN	Likely benign	1586053134	RCV001012991\|RCV001411561;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965571	90965571	8:g.90965571T>C	-
NM_002485.5(NBN):c.1743A>G (p.Gln581=)	4683	NBN	Likely benign	2129697558	RCV002154017;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965574	90965574	90965574	-
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)	4683	NBN	Pathogenic/Likely pathogenic	1337679118	RCV001204081\|RCV002411748\|RCV003473744;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965576	90965576	8:g.90965576G>A	-
NM_002485.5(NBN):c.1739T>G (p.Val580Gly)	4683	NBN	Uncertain significance	2129697638	RCV002398019\|RCV001997683;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965578	90965578	90965578	-
NM_002485.5(NBN):c.1738G>A (p.Val580Ile)	4683	NBN	Uncertain significance	878854506	RCV000232061;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965579	90965579	8:g.90965579C>T	ClinGen:CA10582596	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1738G>T (p.Val580Phe)	4683	NBN	Uncertain significance	878854506	RCV001248151;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965579	90965579	8:g.90965579C>A	-
NM_002485.5(NBN):c.1737del (p.Val580fs)	4683	NBN	Pathogenic	1563525210	RCV000697515;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965580	90965580	NC_000008.10:g.90965582del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1737A>G (p.Lys579=)	4683	NBN	Likely benign	753582962	RCV002535533;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965580	90965580	NC_000008.10:g.90965580T>C	-
NM_002485.5(NBN):c.1735A>G (p.Lys579Glu)	4683	NBN	Uncertain significance	993110145	RCV000557188\|RCV000777261;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965582	90965582	NC_000008.10:g.90965582T>C	ClinGen:CA181257688	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1735A>C (p.Lys579Gln)	4683	NBN	Uncertain significance	993110145	RCV000636780\|RCV002404779;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965582	90965582	NC_000008.10:g.90965582T>G	ClinGen:CA371655212	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1733T>C (p.Val578Ala)	4683	NBN	Uncertain significance	-1	RCV002797182;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965584	90965584	NC_000008.10:g.90965584A>G	-
NM_002485.5(NBN):c.1732G>T (p.Val578Leu)	4683	NBN	Uncertain significance	1554558284	RCV000571489\|RCV001340530;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965585	90965585	8:g.90965585C>A	ClinGen:CA371655216	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1731T>C (p.Asp577=)	4683	NBN	Likely benign	2129697808	RCV002120597;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965586	90965586	90965586	-
NM_002485.5(NBN):c.1731T>G (p.Asp577Glu)	4683	NBN	Uncertain significance	-1	RCV002796287;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965586	90965586	NC_000008.10:g.90965586A>C	-
NM_002485.5(NBN):c.1730A>T (p.Asp577Val)	4683	NBN	Uncertain significance	1341969209	RCV001236947\|RCV003353243;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965587	90965587	8:g.90965587T>A	-
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr)	4683	NBN	Uncertain significance	587781881	RCV000130210\|RCV000199051\|RCV000589088\|RCV000499428\|RCV003474761;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90965588	90965588	8:g.90965588C>A	ClinGen:CA165950	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1727T>C (p.Ile576Thr)	4683	NBN	Conflicting interpretations of pathogenicity	1255733657	RCV001248747\|RCV002402794;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965590	90965590	8:g.90965590A>G	-
NM_002485.5(NBN):c.1727T>G (p.Ile576Ser)	4683	NBN	Uncertain significance	1255733657	RCV001986667;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965590	90965590	90965590	-
NM_002485.5(NBN):c.1726del (p.Ile576fs)	4683	NBN	Pathogenic	-1	RCV002999521;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965591	90965591	NC_000008.10:g.90965593del	-
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)	4683	NBN	Pathogenic/Likely pathogenic	786201745	RCV000164194\|RCV000456402\|RCV003462127;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965594	90965594	8:g.90965594C>A	ClinGen:CA190280	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)	4683	NBN	Conflicting interpretations of pathogenicity	142334798	RCV000115784\|RCV000121614\|RCV000123208\|RCV000587365\|RCV001354070;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142	8	90965597	90965597	8:g.90965597A>T	ClinGen:CA160969,UniProtKB:O60934#VAR_025803	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1720T>G (p.Leu574Val)	4683	NBN	Uncertain significance	142334798	RCV000216186\|RCV001228729;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965597	90965597	8:g.90965597A>C	ClinGen:CA10578754	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1719G>A (p.Glu573=)	4683	NBN	Likely benign	1586053258	RCV001012865\|RCV002068861;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965598	90965598	8:g.90965598C>T	-
NM_002485.5(NBN):c.1719G>T (p.Glu573Asp)	4683	NBN	Uncertain significance	1586053258	RCV002024540;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965598	90965598	90965598	-
NM_002485.5(NBN):c.1716dup (p.Glu573fs)	4683	NBN	Pathogenic/Likely pathogenic	1060503483	RCV000468647\|RCV000481568\|RCV000582798\|RCV003470491;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965600	90965601	NC_000008.10:g.90965601dup	ClinGen:CA16612533	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1717G>C (p.Glu573Gln)	4683	NBN	Uncertain significance	2129697994	RCV001967299;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965600	90965600	90965600	-
NM_002485.5(NBN):c.1716A>C (p.Pro572=)	4683	NBN	Likely benign	1586053267	RCV001430601;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965601	90965601	8:g.90965601T>G	-
NM_002485.5(NBN):c.1716A>G (p.Pro572=)	4683	NBN	Likely benign	1586053267	RCV001012823\|RCV001469159;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965601	90965601	8:g.90965601T>C	-
NM_002485.5(NBN):c.1715C>T (p.Pro572Leu)	4683	NBN	Uncertain significance	1554558303	RCV000636718\|RCV001525100\|RCV002464275;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90965602	90965602	NC_000008.10:g.90965602G>A	ClinGen:CA371655253	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1714C>T (p.Pro572Ser)	4683	NBN	Uncertain significance	749918573	RCV000636724\|RCV002404777;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965603	90965603	NC_000008.10:g.90965603G>A	ClinGen:CA4802687	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1713A>G (p.Lys571=)	4683	NBN	Likely benign	2129698120	RCV002103276\|RCV002398217;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965604	90965604	90965604	-
NM_002485.5(NBN):c.1711A>G (p.Lys571Glu)	4683	NBN	Uncertain significance	587780090	RCV000115783\|RCV000216588\|RCV000685440;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965606	90965606	8:g.90965606T>C	ClinGen:CA287907	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1710A>G (p.Thr570=)	4683	NBN	Likely benign	1586053313	RCV001409997;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965607	90965607	8:g.90965607T>C	-
NM_002485.5(NBN):c.1708A>G (p.Thr570Ala)	4683	NBN	Uncertain significance	730881854	RCV000160792\|RCV000531700\|RCV000576135;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965609	90965609	NC_000008.10:g.90965609T>C	ClinGen:CA299624	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1707C>T (p.Asp569=)	4683	NBN	Likely benign	1057522522	RCV000418003\|RCV001408340\|RCV002402177;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965610	90965610	8:g.90965610G>A	ClinGen:CA16606146	CN169374 not specified;
NM_002485.5(NBN):c.1706A>G (p.Asp569Gly)	4683	NBN	Uncertain significance	-1	RCV002600059\|RCV003465979;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965611	90965611	NC_000008.10:g.90965611T>C	-
NM_002485.5(NBN):c.1703A>G (p.Lys568Arg)	4683	NBN	Uncertain significance	1488036998	RCV000636745\|RCV001012784\|RCV001591419;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90965614	90965614	NC_000008.10:g.90965614T>C	ClinGen:CA371655281	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1702A>G (p.Lys568Glu)	4683	NBN	Uncertain significance	-1	RCV003043794;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965615	90965615	NC_000008.10:g.90965615T>C	-
NM_002485.5(NBN):c.1701C>G (p.Phe567Leu)	4683	NBN	Conflicting interpretations of pathogenicity	730881853	RCV000160791\|RCV000771478\|RCV001800471;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965616	90965616	NC_000008.10:g.90965616G>C	ClinGen:CA299621	CN169374 not specified;
NM_002485.5(NBN):c.1701C>T (p.Phe567=)	4683	NBN	Likely benign	730881853	RCV000566786\|RCV002060521;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965616	90965616	NC_000008.10:g.90965616G>A	ClinGen:CA462114602	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1700T>G (p.Phe567Cys)	4683	NBN	Uncertain significance	980167139	RCV000636747\|RCV000775111;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965617	90965617	8:g.90965617A>C	ClinGen:CA181257789	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1699T>C (p.Phe567Leu)	4683	NBN	Conflicting interpretations of pathogenicity	1554558312	RCV000563554\|RCV000796112;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965618	90965618	8:g.90965618A>G	ClinGen:CA371655291	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1695_1698dup (p.Phe567fs)	4683	NBN	Pathogenic	1279184426	RCV001388904\|RCV002404905;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965618	90965619	90965618	-
NM_002485.5(NBN):c.1697dup (p.Leu566fs)	4683	NBN	Pathogenic	1586053378	RCV000815625;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965619	90965620	8:g.90965619_90965620insA	-
NM_002485.5(NBN):c.1695G>A (p.Gln565=)	4683	NBN	Likely benign	557356152	RCV000567667\|RCV000944336;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965622	90965622	8:g.90965622C>T	ClinGen:CA4802688	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1693C>T (p.Gln565Ter)	4683	NBN	Pathogenic	1586053399	RCV000792089;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965624	90965624	8:g.90965624G>A	-
NM_002485.5(NBN):c.1693C>A (p.Gln565Lys)	4683	NBN	Uncertain significance	1586053399	RCV001313380;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965624	90965624	90965624	-
NM_002485.5(NBN):c.1692A>G (p.Glu564=)	4683	NBN	Likely benign	2129698510	RCV001409210;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965625	90965625	90965625	-
NM_002485.5(NBN):c.1691A>G (p.Glu564Gly)	4683	NBN	Uncertain significance	1554558323	RCV000555795\|RCV002404414;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965626	90965626	NC_000008.10:g.90965626T>C	ClinGen:CA371655310	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys)	4683	NBN	Benign/Likely benign	72550742	RCV000129092\|RCV000205604\|RCV000212749\|RCV000589500\|RCV001356803;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142	8	90965627	90965627	8:g.90965627C>T	ClinGen:CA293957	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1689_1690del (p.Glu564fs)	4683	NBN	Likely pathogenic	-1	RCV002310361;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965627	90965628	90965626	-
NM_002485.5(NBN):c.1688T>C (p.Leu563Ser)	4683	NBN	Uncertain significance	935736921	RCV001213047;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965629	90965629	8:g.90965629A>G	-
NM_002485.5(NBN):c.1687T>A (p.Leu563Met)	4683	NBN	Uncertain significance	1466493008	RCV001216933;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965630	90965630	NC_000008.10:g.90965630A>T	-
NM_002485.5(NBN):c.1687T>C (p.Leu563=)	4683	NBN	Likely benign	1466493008	RCV001408923;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965630	90965630	90965630	-
NM_002485.5(NBN):c.1685T>G (p.Val562Gly)	4683	NBN	Uncertain significance	1060503455	RCV000463767;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965632	90965632	NC_000008.10:g.90965632A>C	ClinGen:CA16612535	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1684G>A (p.Val562Ile)	4683	NBN	Uncertain significance	754651655	RCV000575315\|RCV000690804\|RCV000679453;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90965633	90965633	NC_000008.10:g.90965633C>T	ClinGen:CA4802689	C0027672 Hereditary cancer-predisposing syndrome;
NC_000008.10:g.(?_90965634)_(90971364_?)del	4683	NBN	Likely pathogenic	-1	RCV002013587;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965634	90971364	-1	-
NM_002485.5(NBN):c.1682A>C (p.Glu561Ala)	4683	NBN	Uncertain significance	1586053460	RCV000810168;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965635	90965635	8:g.90965635T>G	-
NM_002485.5(NBN):c.1680T>A (p.Asp560Glu)	4683	NBN	Uncertain significance	1810537339	RCV001235406;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965637	90965637	8:g.90965637A>T	-
NM_002485.5(NBN):c.1679A>G (p.Asp560Gly)	4683	NBN	Uncertain significance	2129698759	RCV001947149;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965638	90965638	90965638	-
NM_002485.5(NBN):c.1679A>T (p.Asp560Val)	4683	NBN	Uncertain significance	-1	RCV002765694;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965638	90965638	NC_000008.10:g.90965638T>A	-
NM_002485.5(NBN):c.1675dup (p.Glu559fs)	4683	NBN	Pathogenic	1563525678	RCV000699746;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965641	90965642	NC_000008.10:g.90965642dup	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1673T>A (p.Ile558Lys)	4683	NBN	Uncertain significance	1810537849	RCV001236330;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965644	90965644	8:g.90965644A>T	-
NM_002485.5(NBN):c.1672A>G (p.Ile558Val)	4683	NBN	Uncertain significance	876659451	RCV000216080\|RCV000465308;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965645	90965645	8:g.90965645T>C	ClinGen:CA10578755	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1672A>C (p.Ile558Leu)	4683	NBN	Uncertain significance	876659451	RCV000538636\|RCV000566431;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965645	90965645	NC_000008.10:g.90965645T>G	ClinGen:CA371655352	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1671C>A (p.Ala557=)	4683	NBN	Likely benign	1057521670	RCV000440274\|RCV001452586;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965646	90965646	8:g.90965646G>T	ClinGen:CA16605424	CN169374 not specified;
NM_002485.5(NBN):c.1671C>T (p.Ala557=)	4683	NBN	Likely benign	1057521670	RCV001012664\|RCV001490124;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965646	90965646	8:g.90965646G>A	-
NM_002485.5(NBN):c.1670C>G (p.Ala557Gly)	4683	NBN	Uncertain significance	1286743873	RCV000636733\|RCV002404778;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965647	90965647	NC_000008.10:g.90965647G>C	ClinGen:CA371655354	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1670C>T (p.Ala557Val)	4683	NBN	Uncertain significance	1286743873	RCV000688543\|RCV002397380;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965647	90965647	8:g.90965647G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1670C>A (p.Ala557Asp)	4683	NBN	Uncertain significance	-1	RCV003076037;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965647	90965647	NC_000008.10:g.90965647G>T	-
NM_002485.5(NBN):c.1667T>A (p.Val556Glu)	4683	NBN	Uncertain significance	558023830	RCV000115782\|RCV000212748\|RCV000459014\|RCV001328384\|RCV001356139;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142	8	90965650	90965650	8:g.90965650A>T	ClinGen:CA287904	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1666G>A (p.Val556Met)	4683	NBN	Uncertain significance	771567358	RCV000636781\|RCV000780527\|RCV001292842\|RCV002404780;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965651	90965651	8:g.90965651C>T	ClinGen:CA4802691	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1666G>T (p.Val556Leu)	4683	NBN	Uncertain significance	771567358	RCV000636784;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965651	90965651	NC_000008.10:g.90965651C>A	ClinGen:CA4802692	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1665T>C (p.Asp555=)	4683	NBN	Likely benign	-1	RCV002885999;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965652	90965652		-
NM_002485.5(NBN):c.1642_1661del (p.Ser547_Asn548insTer)	4683	NBN	Pathogenic	2129699105	RCV002007299;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965656	90965675	90965655	-
NM_002485.5(NBN):c.1660G>T (p.Asp554Tyr)	4683	NBN	Uncertain significance	1554558349	RCV001860091;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965657	90965657	8:g.90965657C>A	ClinGen:CA371655376	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1660G>C (p.Asp554His)	4683	NBN	Uncertain significance	1554558349	RCV001568113\|RCV001882671;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965657	90965657	90965657	-
NM_002485.5(NBN):c.1659G>A (p.Met553Ile)	4683	NBN	Conflicting interpretations of pathogenicity	876659960	RCV000213628\|RCV000530341\|RCV001658036\|RCV001800566;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374	8	90965658	90965658	8:g.90965658C>T	ClinGen:CA10578756	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1657A>G (p.Met553Val)	4683	NBN	Uncertain significance	746347634	RCV000573104\|RCV000636736\|RCV000985868;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90965660	90965660	8:g.90965660T>C	ClinGen:CA4802693	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1657A>T (p.Met553Leu)	4683	NBN	Uncertain significance	746347634	RCV000701373;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965660	90965660	8:g.90965660T>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1654dup (p.Glu552fs)	4683	NBN	Pathogenic/Likely pathogenic	760237820	RCV000636767\|RCV002388046\|RCV003459521;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965662	90965663	NC_000008.10:g.90965665dup	ClinGen:CA4802694	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1654G>C (p.Glu552Gln)	4683	NBN	Uncertain significance	1064793213	RCV000484053\|RCV000554168\|RCV001012604\|RCV003470528;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965663	90965663	8:g.90965663C>G	ClinGen:CA16618700	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1653G>A (p.Arg551=)	4683	NBN	Likely benign	-1	RCV002403696\|RCV003097064;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965664	90965664		-
NM_002485.5(NBN):c.1651dup (p.Arg551fs)	4683	NBN	Pathogenic	766044684	RCV000221563\|RCV000472929\|RCV000985867\|RCV003469104;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965665	90965666	8:g.90965665_90965666insT	ClinGen:CA4802695	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1652G>A (p.Arg551Lys)	4683	NBN	Conflicting interpretations of pathogenicity	1586053587	RCV001191742\|RCV001863040\|RCV003469306;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965665	90965665	8:g.90965665C>T	-
NM_002485.5(NBN):c.1647_1651del (p.Lys550fs)	4683	NBN	Pathogenic	766044684	RCV000458733;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965666	90965670	NC_000008.10:g.90965668_90965672del	ClinGen:CA16612659	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)	4683	NBN	Pathogenic/Likely pathogenic	766044684	RCV000564317\|RCV000636742\|RCV001764666\|RCV002491128\|RCV003465241;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00	8	90965666	90965669	8:g.90965666_90965669del	ClinGen:CA658657791	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1651A>G (p.Arg551Gly)	4683	NBN	Uncertain significance	1810539994	RCV001049849;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965666	90965666	8:g.90965666T>C	-
NM_002485.5(NBN):c.1650A>C (p.Lys550Asn)	4683	NBN	Uncertain significance	1554558368	RCV000572703\|RCV000810849\|RCV003441947\|RCV003465201;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965667	90965667	NC_000008.10:g.90965667T>G	ClinGen:CA371655400	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1649A>G (p.Lys550Arg)	4683	NBN	Uncertain significance	2129699455	RCV001764020\|RCV001868603;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965668	90965668	90965668	-
NM_002485.5(NBN):c.1648A>G (p.Lys550Glu)	4683	NBN	Uncertain significance	1468125809	RCV000564900\|RCV001858197;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965669	90965669	NC_000008.10:g.90965669T>C	ClinGen:CA371655406	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1647A>G (p.Lys549=)	4683	NBN	Likely benign	988523294	RCV001185675\|RCV001418053;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965670	90965670	8:g.90965670T>C	-
NM_002485.5(NBN):c.1646A>T (p.Lys549Ile)	4683	NBN	Uncertain significance	-1	RCV002785911;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965671	90965671	NC_000008.10:g.90965671T>A	-
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter)	4683	NBN	Pathogenic	1810540992	RCV001060946\|RCV001270950\|RCV002402432\|RCV003473674;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN221562\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965672	90965672	8:g.90965672T>A	-
NM_002485.5(NBN):c.1645A>G (p.Lys549Glu)	4683	NBN	Uncertain significance	1810540992	RCV001299173\|RCV002402830;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965672	90965672	90965672	-
NM_002485.5(NBN):c.1644dup (p.Lys549Ter)	4683	NBN	Pathogenic	2129699596	RCV001890438;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965672	90965673	90965672	-
NM_002485.5(NBN):c.1642A>C (p.Asn548His)	4683	NBN	Uncertain significance	772234785	RCV000636719;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965675	90965675	8:g.90965675T>G	ClinGen:CA371655421	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1642A>G (p.Asn548Asp)	4683	NBN	Uncertain significance	772234785	RCV000801779\|RCV001012541;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965675	90965675	8:g.90965675T>C	-
NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer)	4683	NBN	Pathogenic/Likely pathogenic	776417262	RCV000412165\|RCV002402097;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965677	90965677	NC_000008.10:g.90965677del	ClinGen:CA4802697	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1640C>A (p.Ser547Ter)	4683	NBN	Likely pathogenic	-1	RCV002308431;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965677	90965677	90965677	-
NM_002485.5(NBN):c.1637G>C (p.Arg546Thr)	4683	NBN	Uncertain significance	1360502904	RCV000636709\|RCV002388043;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965680	90965680	NC_000008.10:g.90965680C>G	ClinGen:CA371655431	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1636A>G (p.Arg546Gly)	4683	NBN	Uncertain significance	-1	RCV002837974;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965681	90965681	NC_000008.10:g.90965681T>C	-
NM_002485.5(NBN):c.1635A>G (p.Leu545=)	4683	NBN	Likely benign	1353578845	RCV001419612;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965682	90965682	NC_000008.10:g.90965682T>C	-
NM_002485.5(NBN):c.1622_1634del (p.Ala541fs)	4683	NBN	Likely pathogenic	-1	RCV002306572;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965683	90965695	90965682	-
NM_002485.5(NBN):c.1631A>G (p.Lys544Arg)	4683	NBN	Uncertain significance	2129699796	RCV001994955;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965686	90965686	90965686	-
NM_002485.5(NBN):c.1628A>G (p.Glu543Gly)	4683	NBN	Uncertain significance	587781624	RCV000129722\|RCV000781639\|RCV001800429;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965689	90965689	8:g.90965689T>C	ClinGen:CA164976	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1628A>C (p.Glu543Ala)	4683	NBN	Uncertain significance	587781624	RCV000814543;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965689	90965689	8:g.90965689T>G	-
NM_002485.5(NBN):c.1626A>G (p.Ala542=)	4683	NBN	Likely benign	1563526123	RCV001490165;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965691	90965691	8:g.90965691T>C	-
NM_002485.5(NBN):c.1625C>T (p.Ala542Val)	4683	NBN	Uncertain significance	760911186	RCV000792579\|RCV002397566;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965692	90965692	8:g.90965692G>A	-
NM_002485.5(NBN):c.1624_1625delinsTT (p.Ala542Leu)	4683	NBN	Uncertain significance	2129699919	RCV001361493;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965692	90965693	90965692	-
NM_002485.5(NBN):c.1624G>T (p.Ala542Ser)	4683	NBN	Uncertain significance	764263689	RCV001348753;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965693	90965693	90965693	-
NM_002485.5(NBN):c.1623T>C (p.Ala541=)	4683	NBN	Likely benign	1209398379	RCV000772358\|RCV000931424;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965694	90965694	NC_000008.10:g.90965694A>G	-
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly)	4683	NBN	Uncertain significance	876658501	RCV000216784\|RCV000460642\|RCV003468996;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965695	90965695	8:g.90965695G>C	ClinGen:CA10578757	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1622C>T (p.Ala541Val)	4683	NBN	Uncertain significance	876658501	RCV000687714\|RCV001805803\|RCV003465562;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965695	90965695	NC_000008.10:g.90965695G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1621G>A (p.Ala541Thr)	4683	NBN	Uncertain significance	-1	RCV003035347;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965696	90965696	NC_000008.10:g.90965696C>T	-
NM_002485.5(NBN):c.1619A>G (p.His540Arg)	4683	NBN	Uncertain significance	730881852	RCV000160790\|RCV000204344\|RCV000771330;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965698	90965698	NC_000008.10:g.90965698T>C	ClinGen:CA299618	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1619A>T (p.His540Leu)	4683	NBN	Uncertain significance	-1	RCV002299937;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965698	90965698	90965698	-
NM_002485.5(NBN):c.1618C>T (p.His540Tyr)	4683	NBN	Uncertain significance	1554558393	RCV000541863\|RCV000583564;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965699	90965699	NC_000008.10:g.90965699G>A	ClinGen:CA371655467	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1616C>G (p.Ser539Cys)	4683	NBN	Uncertain significance	768431216	RCV000686615\|RCV001525020;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965701	90965701	NC_000008.10:g.90965701G>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1613A>T (p.Lys538Ile)	4683	NBN	Uncertain significance	1810545480	RCV001227109;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965704	90965704	8:g.90965704T>A	-
NM_002485.5(NBN):c.1612A>G (p.Lys538Glu)	4683	NBN	Uncertain significance	2129700125	RCV001993993;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965705	90965705	90965705	-
NM_002485.5(NBN):c.1609A>G (p.Ser537Gly)	4683	NBN	Uncertain significance	1810545673	RCV001320319;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965708	90965708	90965708	-
NM_002485.5(NBN):c.1603T>G (p.Ser535Ala)	4683	NBN	Uncertain significance	1563526265	RCV000780525\|RCV001873187\|RCV002397557;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965714	90965714	NC_000008.10:g.90965714A>C	-
NM_002485.5(NBN):c.1601A>G (p.Asn534Ser)	4683	NBN	Uncertain significance	-1	RCV003011934;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965716	90965716	NC_000008.10:g.90965716T>C	-
NM_002485.5(NBN):c.1599A>G (p.Lys533=)	4683	NBN	Conflicting interpretations of pathogenicity	2129700342	RCV001944815\|RCV002397806;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965718	90965718	90965718	-
NM_002485.5(NBN):c.1598A>G (p.Lys533Arg)	4683	NBN	Uncertain significance	-1	RCV002923653\|RCV003229100;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN517202	8	90965719	90965719	NC_000008.10:g.90965719T>C	-
NM_002485.5(NBN):c.1581_1597del (p.Asp527fs)	4683	NBN	Likely pathogenic	-1	RCV002308154;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965720	90965736	90965719	-
NM_002485.5(NBN):c.1594G>A (p.Val532Met)	4683	NBN	Uncertain significance	545435120	RCV000484172\|RCV000550537\|RCV001012314;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965723	90965723	8:g.90965723C>T	ClinGen:CA4802701	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1594G>T (p.Val532Leu)	4683	NBN	Uncertain significance	545435120	RCV000524734\|RCV001012316\|RCV001293999;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965723	90965723	8:g.90965723C>A	ClinGen:CA181257898	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1592T>C (p.Ile531Thr)	4683	NBN	Uncertain significance	2129700486	RCV001969145\|RCV002398027;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965725	90965725	90965725	-
NM_002485.5(NBN):c.1591A>G (p.Ile531Val)	4683	NBN	Uncertain significance	587782330	RCV000131247\|RCV000542468\|RCV001357760\|RCV001778752;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN169374	8	90965726	90965726	8:g.90965726T>C	ClinGen:CA167864	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1589C>G (p.Ser530Cys)	4683	NBN	Uncertain significance	920311188	RCV002560035;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965728	90965728	8:g.90965728G>C	-
NM_002485.5(NBN):c.1587dup (p.Ser530fs)	4683	NBN	Pathogenic/Likely pathogenic	1057516332	RCV000410169;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965729	90965730	NC_000008.10:g.90965733dup	ClinGen:CA16041207	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1588T>C (p.Ser530Pro)	4683	NBN	Uncertain significance	1554558401	RCV000508363\|RCV000705237;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965729	90965729	NC_000008.10:g.90965729A>G	ClinGen:CA371655530	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1587A>G (p.Lys529=)	4683	NBN	Likely benign	1057521983	RCV000433784\|RCV001500150;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965730	90965730	8:g.90965730T>C	ClinGen:CA16605510	CN169374 not specified;
NM_002485.5(NBN):c.1583T>G (p.Leu528Ter)	4683	NBN	Pathogenic	2129700612	RCV001908318;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965734	90965734	90965734	-
NM_002485.5(NBN):c.1583T>C (p.Leu528Ser)	4683	NBN	Uncertain significance	-1	RCV003028552;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965734	90965734	NC_000008.10:g.90965734A>G	-
NM_002485.5(NBN):c.1583T>A (p.Leu528Ter)	4683	NBN	Pathogenic	-1	RCV003032194;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965734	90965734	NC_000008.10:g.90965734A>T	-
NM_002485.5(NBN):c.1582T>A (p.Leu528Ile)	4683	NBN	Uncertain significance	2129700664	RCV001374262;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965735	90965735	90965735	-
NM_002485.5(NBN):c.1582T>C (p.Leu528=)	4683	NBN	Likely benign	2129700664	RCV001454371;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965735	90965735	90965735	-
NM_002485.5(NBN):c.1581T>G (p.Asp527Glu)	4683	NBN	Uncertain significance	1586053893	RCV000797531;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965736	90965736	8:g.90965736A>C	-
NM_002485.5(NBN):c.1580A>T (p.Asp527Val)	4683	NBN	Uncertain significance	1554558407	RCV000525608\|RCV001012254\|RCV003459220;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965737	90965737	NC_000008.10:g.90965737T>A	ClinGen:CA371655549	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1580A>G (p.Asp527Gly)	4683	NBN	Uncertain significance	1554558407	RCV002258601\|RCV003101426;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965737	90965737	90965737	-
NM_002485.5(NBN):c.1578A>G (p.Thr526=)	4683	NBN	Likely benign	2129700754	RCV002091660;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965739	90965739	90965739	-
NM_002485.5(NBN):c.1577C>G (p.Thr526Arg)	4683	NBN	Uncertain significance	-1	RCV002913966;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965740	90965740	NC_000008.10:g.90965740G>C	-
NM_002485.5(NBN):c.1575T>A (p.Asp525Glu)	4683	NBN	Uncertain significance	587782150	RCV000130718\|RCV001338002;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965742	90965742	8:g.90965742A>T	ClinGen:CA166976	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1573G>A (p.Asp525Asn)	4683	NBN	Uncertain significance	-1	RCV002685536;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965744	90965744	NC_000008.10:g.90965744C>T	-
NM_002485.5(NBN):c.1571C>T (p.Thr524Ile)	4683	NBN	Uncertain significance	2129700864	RCV001894274\|RCV002397791;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965746	90965746	90965746	-
NM_002485.5(NBN):c.1570A>G (p.Thr524Ala)	4683	NBN	Uncertain significance	1292640945	RCV000549479\|RCV000561811;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965747	90965747	NC_000008.10:g.90965747T>C	ClinGen:CA371655571	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1566_1568del (p.Leu522del)	4683	NBN	Uncertain significance	-1	RCV002991753;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965749	90965751	NC_000008.10:g.90965751_90965753del	-
NM_002485.5(NBN):c.1566A>T (p.Leu522Phe)	4683	NBN	Uncertain significance	-1	RCV002295244;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965751	90965751	90965751	-
NM_002485.5(NBN):c.1562_1564dup (p.Asn521_Leu522insTyr)	4683	NBN	Uncertain significance	1810549229	RCV001037286;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965752	90965753	8:g.90965752_90965753insAGT	-
NM_002485.5(NBN):c.1564T>G (p.Leu522Val)	4683	NBN	Uncertain significance	2129700928	RCV002049421;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965753	90965753	90965753	-
NM_002485.5(NBN):c.1563C>T (p.Asn521=)	4683	NBN	Likely benign	765959451	RCV000567912\|RCV001480145\|RCV001697387;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90965754	90965754	8:g.90965754G>A	ClinGen:CA4802703	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1560T>C (p.Asn520=)	4683	NBN	Likely benign	2129701011	RCV001436536;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965757	90965757	90965757	-
NM_002485.5(NBN):c.1559A>G (p.Asn520Ser)	4683	NBN	Uncertain significance	750981708	RCV000200286\|RCV000580918\|RCV003324728;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90965758	90965758	NC_000008.10:g.90965758T>C	ClinGen:CA339215	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1558A>G (p.Asn520Asp)	4683	NBN	Conflicting interpretations of pathogenicity	944499155	RCV000536553\|RCV000573249;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965759	90965759	NC_000008.10:g.90965759T>C	ClinGen:CA181257926	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1556A>T (p.Asp519Val)	4683	NBN	Uncertain significance	-1	RCV002820787;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965761	90965761	NC_000008.10:g.90965761T>A	-
NM_002485.5(NBN):c.1556A>G (p.Asp519Gly)	4683	NBN	Uncertain significance	-1	RCV003027943;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965761	90965761	NC_000008.10:g.90965761T>C	-
NM_002485.5(NBN):c.1554dup (p.Asp519fs)	4683	NBN	Pathogenic	1554558423	RCV000561057\|RCV001858315;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965762	90965763	NC_000008.10:g.90965763dup	ClinGen:CA658657795	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1554del (p.Asp519fs)	4683	NBN	Pathogenic	2129701175	RCV001383391;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965763	90965763	90965762	-
NM_002485.5(NBN):c.1554A>C (p.Ser518=)	4683	NBN	Likely benign	2129701132	RCV001503534;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965763	90965763	90965763	-
NM_002485.5(NBN):c.1553C>G (p.Ser518Ter)	4683	NBN	Pathogenic	1060503480	RCV000473949;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965764	90965764	NC_000008.10:g.90965764G>C	ClinGen:CA16612360	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1551C>T (p.Asn517=)	4683	NBN	Likely benign	876658744	RCV000220718\|RCV001424134;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965766	90965766	8:g.90965766G>A	ClinGen:CA10578758	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1551C>A (p.Asn517Lys)	4683	NBN	Conflicting interpretations of pathogenicity	876658744	RCV001187829\|RCV001323375;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965766	90965766	8:g.90965766G>T	-
NM_002485.5(NBN):c.1549A>G (p.Asn517Asp)	4683	NBN	Uncertain significance	1040315184	RCV000475341\|RCV001175824\|RCV002293443;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90965768	90965768	NC_000008.10:g.90965768T>C	ClinGen:CA16612475	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1547C>T (p.Thr516Ile)	4683	NBN	Uncertain significance	754706758	RCV001061291;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965770	90965770	8:g.90965770G>A	-
NM_002485.5(NBN):c.1546A>G (p.Thr516Ala)	4683	NBN	Uncertain significance	376653589	RCV000985866\|RCV001012047\|RCV001060846;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965771	90965771	8:g.90965771T>C	-
NM_002485.5(NBN):c.1538C>T (p.Pro513Leu)	4683	NBN	Uncertain significance	1554558440	RCV000560363;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965779	90965779	8:g.90965779G>A	ClinGen:CA371655638	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1537C>T (p.Pro513Ser)	4683	NBN	Uncertain significance	1810551219	RCV001045276\|RCV002256656;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965780	90965780	8:g.90965780G>A	-
NM_002485.5(NBN):c.1536G>A (p.Glu512=)	4683	NBN	Likely benign	754267250	RCV000925958\|RCV002400028;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965781	90965781	8:g.90965781C>T	-
NM_002485.5(NBN):c.1535A>G (p.Glu512Gly)	4683	NBN	Uncertain significance	876659367	RCV000218117\|RCV002515640;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965782	90965782	8:g.90965782T>C	ClinGen:CA10578759	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1534G>C (p.Glu512Gln)	4683	NBN	Uncertain significance	1554558445	RCV000548104\|RCV001012068;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965783	90965783	NC_000008.10:g.90965783C>G	ClinGen:CA371655649	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1534G>A (p.Glu512Lys)	4683	NBN	Uncertain significance	1554558445	RCV001955147\|RCV003475187;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965783	90965783	90965783	-
NM_002485.5(NBN):c.1533T>G (p.Asn511Lys)	4683	NBN	Uncertain significance	587780776	RCV000123207;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965784	90965784	8:g.90965784A>C	ClinGen:CA332816	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1533T>C (p.Asn511=)	4683	NBN	Likely benign	-1	RCV002403011\|RCV003100707;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965784	90965784		-
NM_002485.5(NBN):c.1532A>C (p.Asn511Thr)	4683	NBN	Uncertain significance	2129701658	RCV002007938\|RCV002398035;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965785	90965785	90965785	-
NM_002485.5(NBN):c.1531A>G (p.Asn511Asp)	4683	NBN	Uncertain significance	-1	RCV002303693;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965786	90965786	90965786	-
NM_002485.5(NBN):c.1530G>C (p.Glu510Asp)	4683	NBN	Uncertain significance	1283330641	RCV000636787\|RCV001012033\|RCV001535627\|RCV001838014;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3469522; MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90965787	90965787	NC_000008.10:g.90965787C>G	ClinGen:CA371655659	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs)	4683	NBN	Likely pathogenic	1554558449	RCV000590402\|RCV003459460;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965790	90965793	NC_000008.10:g.90965790AGAT[1]	ClinGen:CA658683527	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1526dup (p.Ser509_Glu510insTer)	4683	NBN	Pathogenic	1563526747	RCV000686792;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965790	90965791	8:g.90965790_90965791insG	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1526C>A (p.Ser509Tyr)	4683	NBN	Uncertain significance	1554558450	RCV000535492\|RCV000566294;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965791	90965791	8:g.90965791G>T	ClinGen:CA371655668	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1525T>C (p.Ser509Pro)	4683	NBN	Uncertain significance	1810552588	RCV001279846\|RCV002393682;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965792	90965792	8:g.90965792A>G	-
NM_002485.5(NBN):c.1525T>A (p.Ser509Thr)	4683	NBN	Uncertain significance	-1	RCV003016760;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965792	90965792	NC_000008.10:g.90965792A>T	-
NM_002485.5(NBN):c.1524A>G (p.Leu508=)	4683	NBN	Likely benign	1266314359	RCV001181880\|RCV002068300;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965793	90965793	8:g.90965793T>C	-
NM_002485.5(NBN):c.1523dup (p.Ser509fs)	4683	NBN	Pathogenic/Likely pathogenic	1586054199	RCV001870904\|RCV003164199\|RCV003475133;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90965793	90965794	90965793	-
NM_002485.5(NBN):c.1524A>T (p.Leu508=)	4683	NBN	Likely benign	1266314359	RCV002189067;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965793	90965793	90965793	-
NM_002485.5(NBN):c.1521T>A (p.His507Gln)	4683	NBN	Uncertain significance	1586054212	RCV000811328\|RCV001011969;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965796	90965796	8:g.90965796A>T	-
NM_002485.5(NBN):c.1520A>G (p.His507Arg)	4683	NBN	Uncertain significance	587782520	RCV000131697\|RCV000669514\|RCV001561788;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90965797	90965797	8:g.90965797T>C	ClinGen:CA168618	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1520A>C (p.His507Pro)	4683	NBN	Uncertain significance	587782520	RCV001219487;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965797	90965797	8:g.90965797T>G	-
NM_002485.5(NBN):c.1519C>T (p.His507Tyr)	4683	NBN	Uncertain significance	1554558456	RCV000636735;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965798	90965798	NC_000008.10:g.90965798G>A	ClinGen:CA371655681	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1516C>G (p.Gln506Glu)	4683	NBN	Uncertain significance	876658535	RCV000217177\|RCV000471111\|RCV001354368;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0007254,MedGen:C0006142	8	90965801	90965801	8:g.90965801G>C	ClinGen:CA10578760	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1516C>T (p.Gln506Ter)	4683	NBN	Pathogenic	876658535	RCV001227877\|RCV003294092;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965801	90965801	8:g.90965801G>A	-
NM_002485.5(NBN):c.1515del (p.Glu505fs)	4683	NBN	Pathogenic/Likely pathogenic	759232053	RCV000564904\|RCV000781642\|RCV003227797\|RCV003465242;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965802	90965802	NC_000008.10:g.90965802del	ClinGen:CA4802707	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1515G>A (p.Glu505=)	4683	NBN	Likely benign	2129702018	RCV001483617\|RCV003160956;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965802	90965802	90965802	-
NM_002485.5(NBN):c.1513G>A (p.Glu505Lys)	4683	NBN	Uncertain significance	1810553632	RCV001042538;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965804	90965804	8:g.90965804C>T	-
NM_002485.5(NBN):c.1512G>A (p.Lys504=)	4683	NBN	Likely benign	-1	RCV002900272;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965805	90965805		-
NM_002485.5(NBN):c.1511A>G (p.Lys504Arg)	4683	NBN	Uncertain significance	757754183	RCV000566537\|RCV000815889;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965806	90965806	8:g.90965806T>C	ClinGen:CA4802708	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1509T>C (p.Asn503=)	4683	NBN	Likely benign	876660751	RCV000222671\|RCV000609628\|RCV000979738;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965808	90965808	8:g.90965808A>G	ClinGen:CA10578761	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1509T>G (p.Asn503Lys)	4683	NBN	Uncertain significance	876660751	RCV000565151\|RCV000792565\|RCV002225668;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90965808	90965808	NC_000008.10:g.90965808A>C	ClinGen:CA371655706	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1509T>A (p.Asn503Lys)	4683	NBN	Uncertain significance	876660751	RCV001296546;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965808	90965808	90965808	-
NM_002485.5(NBN):c.1503G>T (p.Trp501Cys)	4683	NBN	Uncertain significance	-1	RCV003027946;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965814	90965814	NC_000008.10:g.90965814C>A	-
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)	4683	NBN	Pathogenic/Likely pathogenic	1554558472	RCV000568444\|RCV000657733\|RCV001005050\|RCV001388337;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965815	90965815	8:g.90965815C>T	ClinGen:CA371655727	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1499T>C (p.Leu500Ser)	4683	NBN	Uncertain significance	1563526901	RCV000684953\|RCV001011907\|RCV003465552;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965818	90965818	8:g.90965818A>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1498T>C (p.Leu500=)	4683	NBN	Likely benign	779116935	RCV001438278\|RCV002396009;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965819	90965819	90965819	-
NM_002485.5(NBN):c.1497A>G (p.Ser499=)	4683	NBN	Likely benign	774032674	RCV001415133\|RCV002395942;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965820	90965820	90965820	-
NM_002485.5(NBN):c.1496C>T (p.Ser499Leu)	4683	NBN	Uncertain significance	772411713	RCV000214461\|RCV001306382;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965821	90965821	8:g.90965821G>A	ClinGen:CA4802711	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter)	4683	NBN	Pathogenic/Likely pathogenic	772411713	RCV001057404\|RCV003467785;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965821	90965821	8:g.90965821G>C	-
NM_002485.5(NBN):c.1496C>A (p.Ser499Ter)	4683	NBN	Pathogenic	772411713	RCV001387053;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965821	90965821	90965821	-
NM_002485.5(NBN):c.1495T>C (p.Ser499Pro)	4683	NBN	Uncertain significance	1554558483	RCV000567802\|RCV001049326\|RCV001566497\|RCV003476331;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965822	90965822	NC_000008.10:g.90965822A>G	ClinGen:CA371655741	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1494C>T (p.Pro498=)	4683	NBN	Likely benign	1554558484	RCV001497416;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965823	90965823	8:g.90965823G>A	ClinGen:CA462114744	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1494C>G (p.Pro498=)	4683	NBN	Likely benign	1554558484	RCV001479619;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965823	90965823	8:g.90965823G>C	-
NM_002485.5(NBN):c.1492C>A (p.Pro498Thr)	4683	NBN	Uncertain significance	915825113	RCV001568147\|RCV001832777;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965825	90965825	90965825	-
NM_002485.5(NBN):c.1490C>T (p.Thr497Ile)	4683	NBN	Uncertain significance	1563527011	RCV001856099;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965827	90965827	NC_000008.10:g.90965827G>A	-
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala)	4683	NBN	Benign/Likely benign	3026268	RCV000121612\|RCV000128985\|RCV000759168\|RCV001079822\|RCV001354750\|RCV002225382\|RCV002498571\|RCV003315761;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	8	90965828	90965828	8:g.90965828T>C	ClinGen:CA160963,UniProtKB:O60934#VAR_025802	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1488T>C (p.Ala496=)	4683	NBN	Likely benign	2129702580	RCV001443762\|RCV002396024;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965829	90965829	90965829	-
NM_002485.5(NBN):c.1488T>G (p.Ala496=)	4683	NBN	Likely benign	-1	RCV002861553;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965829	90965829		-
NM_002485.5(NBN):c.1487C>T (p.Ala496Val)	4683	NBN	Uncertain significance	1586054406	RCV000816943;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965830	90965830	8:g.90965830G>A	-
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)	4683	NBN	Pathogenic/Likely pathogenic	764884516	RCV000166379\|RCV000482780\|RCV000636722\|RCV002485031\|RCV003468782;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00	8	90965833	90965834	8:g.90965834_90965834del	ClinGen:CA195701	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu)	4683	NBN	Uncertain significance	863224714	RCV000198393\|RCV000223448\|RCV000562638\|RCV000781646\|RCV003474960;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90965833	90965833	NC_000008.10:g.90965833G>A	ClinGen:CA337891	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1484C>G (p.Pro495Arg)	4683	NBN	Uncertain significance	863224714	RCV000818907\|RCV002390680;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965833	90965833	8:g.90965833G>C	-
NM_002485.5(NBN):c.1483C>T (p.Pro495Ser)	4683	NBN	Uncertain significance	747027298	RCV000636740;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965834	90965834	NC_000008.10:g.90965834G>A	ClinGen:CA371655760	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1481A>C (p.Gln494Pro)	4683	NBN	Uncertain significance	1381248118	RCV000580659\|RCV001067525;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965836	90965836	8:g.90965836T>G	ClinGen:CA371655766	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1478_1481del (p.Thr493fs)	4683	NBN	Pathogenic	1586054483	RCV001233080\|RCV002393580;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965836	90965839	8:g.90965836_90965839del	-
NM_002485.5(NBN):c.1480C>A (p.Gln494Lys)	4683	NBN	Uncertain significance	587781557	RCV000129575\|RCV000636783;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965837	90965837	8:g.90965837G>T	ClinGen:CA164698	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1480C>T (p.Gln494Ter)	4683	NBN	Pathogenic	-1	RCV002797046;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965837	90965837	NC_000008.10:g.90965837G>A	-
NM_002485.5(NBN):c.1479A>G (p.Thr493=)	4683	NBN	Likely benign	-1	RCV002397077\|RCV003100686;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965838	90965838		-
NM_002485.5(NBN):c.1477A>G (p.Thr493Ala)	4683	NBN	Uncertain significance	1810557417	RCV001060662;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965840	90965840	8:g.90965840T>C	-
NM_002485.5(NBN):c.1476A>C (p.Gln492His)	4683	NBN	Uncertain significance	1382919150	RCV000571802\|RCV001343892;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965841	90965841	NC_000008.10:g.90965841T>G	ClinGen:CA371655776	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1476A>G (p.Gln492=)	4683	NBN	Uncertain significance	1382919150	RCV002027286;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965841	90965841	90965841	-
NM_002485.5(NBN):c.1475A>G (p.Gln492Arg)	4683	NBN	Uncertain significance	768883132	RCV000576077\|RCV001867862;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965842	90965842	NC_000008.10:g.90965842T>C	ClinGen:CA4802714	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1474C>T (p.Gln492Ter)	4683	NBN	Pathogenic/Likely pathogenic	587782130	RCV000130673\|RCV000480769\|RCV000529643\|RCV003467153;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965843	90965843	8:g.90965843G>A	ClinGen:CA166874	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1474C>A (p.Gln492Lys)	4683	NBN	Uncertain significance	587782130	RCV000213507\|RCV000559007\|RCV000732065;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90965843	90965843	8:g.90965843G>T	ClinGen:CA10578762	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1473A>G (p.Glu491=)	4683	NBN	Conflicting interpretations of pathogenicity	2129702949	RCV001955418\|RCV002388895;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965844	90965844	90965844	-
NM_002485.5(NBN):c.1472A>G (p.Glu491Gly)	4683	NBN	Uncertain significance	2129702971	RCV001894221;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965845	90965845	90965845	-
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys)	4683	NBN	Uncertain significance	776900339	RCV000482670\|RCV000546529\|RCV002395149;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965846	90965846	8:g.90965846C>T	ClinGen:CA4802715	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1470A>C (p.Leu490Phe)	4683	NBN	Uncertain significance	1447979380	RCV000820960;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965847	90965847	8:g.90965847T>G	-
NM_002485.5(NBN):c.1469T>C (p.Leu490Ser)	4683	NBN	Uncertain significance	1586054565	RCV001011733\|RCV001043710;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965848	90965848	8:g.90965848A>G	-
NM_002485.5(NBN):c.1466T>C (p.Leu489Pro)	4683	NBN	Uncertain significance	2129703076	RCV001926980;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965851	90965851	90965851	-
NM_002485.5(NBN):c.1465C>G (p.Leu489Val)	4683	NBN	Conflicting interpretations of pathogenicity	143948240	RCV000164141\|RCV000197233\|RCV001354892\|RCV003467286;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0007254,MedGen:C0006142\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135,Orphane	8	90965852	90965852	8:g.90965852G>C	ClinGen:CA190135	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1465C>T (p.Leu489Phe)	4683	NBN	Uncertain significance	143948240	RCV002035140;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965852	90965852	90965852	-
NM_002485.5(NBN):c.1464T>C (p.Ser488=)	4683	NBN	Likely benign	2129703123	RCV002106206;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965853	90965853	90965853	-
NM_002485.5(NBN):c.1463C>G (p.Ser488Cys)	4683	NBN	Uncertain significance	1060503472	RCV000473379\|RCV001011702;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965854	90965854	NC_000008.10:g.90965854G>C	ClinGen:CA16612477	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1463C>A (p.Ser488Tyr)	4683	NBN	Uncertain significance	1060503472	RCV001325784;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965854	90965854	90965854	-
NM_002485.5(NBN):c.1460G>A (p.Cys487Tyr)	4683	NBN	Uncertain significance	587782118	RCV000130640\|RCV001849936;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965857	90965857	8:g.90965857C>T	ClinGen:CA166803	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1460G>T (p.Cys487Phe)	4683	NBN	Uncertain significance	-1	RCV002988675;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965857	90965857	NC_000008.10:g.90965857C>A	-
NM_002485.5(NBN):c.1459T>C (p.Cys487Arg)	4683	NBN	Uncertain significance	2129703194	RCV001365762;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965858	90965858	90965858	-
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe)	4683	NBN	Uncertain significance	572568222	RCV000775381\|RCV001800875\|RCV002487589\|RCV003472299;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88; MONDO:MONDO:000	8	90965860	90965860	NC_000008.10:g.90965860G>A	-
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro)	4683	NBN	Uncertain significance	587781380	RCV000129206\|RCV000486944\|RCV000636744\|RCV003398754\|RCV003467105;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90965861	90965861	8:g.90965861A>G	ClinGen:CA163959	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1455G>A (p.Thr485=)	4683	NBN	Likely benign	772864909	RCV000164024\|RCV000469671\|RCV001193076;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90965862	90965862	8:g.90965862C>T	ClinGen:CA189836	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1454C>T (p.Thr485Met)	4683	NBN	Conflicting interpretations of pathogenicity	200891292	RCV000218203\|RCV000473153\|RCV001284189\|RCV001800560;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374	8	90965863	90965863	8:g.90965863G>A	ClinGen:CA4802717	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1454C>A (p.Thr485Lys)	4683	NBN	Uncertain significance	200891292	RCV001524909\|RCV001872058;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965863	90965863	90965863	-
NM_002485.5(NBN):c.1453A>T (p.Thr485Ser)	4683	NBN	Uncertain significance	1586054649	RCV001011660\|RCV001860677;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965864	90965864	8:g.90965864T>A	-
NM_002485.5(NBN):c.1453A>G (p.Thr485Ala)	4683	NBN	Uncertain significance	1586054649	RCV001308431;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965864	90965864	90965864	-
NM_002485.5(NBN):c.1449A>G (p.Ile483Met)	4683	NBN	Uncertain significance	1586054662	RCV001011636\|RCV001860676;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965868	90965868	8:g.90965868T>C	-
NM_002485.5(NBN):c.1448T>C (p.Ile483Thr)	4683	NBN	Uncertain significance	876658347	RCV000214099\|RCV000229263\|RCV001559436;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90965869	90965869	8:g.90965869A>G	ClinGen:CA10578763	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1448T>G (p.Ile483Arg)	4683	NBN	Uncertain significance	876658347	RCV000801918\|RCV002388484;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965869	90965869	8:g.90965869A>C	-
NM_002485.5(NBN):c.1445G>A (p.Arg482Lys)	4683	NBN	Uncertain significance	775451862	RCV000460258\|RCV002393159;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965872	90965872	NC_000008.10:g.90965872C>T	ClinGen:CA16612361	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1445G>T (p.Arg482Ile)	4683	NBN	Uncertain significance	-1	RCV002944126;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965872	90965872	NC_000008.10:g.90965872C>A	-
NM_002485.5(NBN):c.1444A>G (p.Arg482Gly)	4683	NBN	Uncertain significance	886063168	RCV000310003\|RCV000563872\|RCV001194316;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90965873	90965873	NC_000008.10:g.90965873T>C	ClinGen:CA10631650	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1443A>G (p.Ala481=)	4683	NBN	Likely benign	751121403	RCV000163614\|RCV000545175\|RCV001697154;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90965874	90965874	8:g.90965874T>C	ClinGen:CA188769	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1441G>C (p.Ala481Pro)	4683	NBN	Uncertain significance	2129703568	RCV001937918\|RCV002388818;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965876	90965876	90965876	-
NM_002485.5(NBN):c.1438T>C (p.Ser480Pro)	4683	NBN	Uncertain significance	2129703628	RCV001978302;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965879	90965879	90965879	-
NM_002485.5(NBN):c.1436A>G (p.Lys479Arg)	4683	NBN	Uncertain significance	786202028	RCV000164629\|RCV001850302;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965881	90965881	8:g.90965881T>C	ClinGen:CA191434	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1434C>T (p.Cys478=)	4683	NBN	Likely benign	1060503473	RCV000459870\|RCV000560958\|RCV000609967;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90965883	90965883	NC_000008.10:g.90965883G>A	ClinGen:CA16612661	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1434C>A (p.Cys478Ter)	4683	NBN	Pathogenic	-1	RCV002894701;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965883	90965883	NC_000008.10:g.90965883G>T	-
NM_002485.5(NBN):c.1419_1431dup (p.Cys478fs)	4683	NBN	Pathogenic	864622333	RCV000205695;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965885	90965886	8:g.90965885_90965886insTGAAGACATTTCT	ClinGen:CA349818	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1432T>A (p.Cys478Ser)	4683	NBN	Conflicting interpretations of pathogenicity	1199013619	RCV000773787\|RCV001067584;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965885	90965885	NC_000008.10:g.90965885A>T	-
NM_002485.5(NBN):c.1432T>G (p.Cys478Gly)	4683	NBN	Uncertain significance	1199013619	RCV001038392\|RCV002391102;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965885	90965885	8:g.90965885A>C	-
NM_002485.5(NBN):c.1432T>C (p.Cys478Arg)	4683	NBN	Uncertain significance	1199013619	RCV001039705\|RCV002391110;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965885	90965885	8:g.90965885A>G	-
NM_002485.5(NBN):c.1431A>G (p.Ser477=)	4683	NBN	Likely benign	759060729	RCV000636810\|RCV001011548;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965886	90965886	NC_000008.10:g.90965886T>C	ClinGen:CA4802719	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1430C>T (p.Ser477Leu)	4683	NBN	Uncertain significance	767123014	RCV000218142\|RCV000506485\|RCV000532578\|RCV003390968;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|	8	90965887	90965887	8:g.90965887G>A	ClinGen:CA4802720	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1429T>C (p.Ser477Pro)	4683	NBN	Uncertain significance	1586054780	RCV001011539\|RCV001211950;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965888	90965888	8:g.90965888A>G	-
NM_002485.5(NBN):c.1425G>A (p.Met475Ile)	4683	NBN	Uncertain significance	1180796619	RCV000636763\|RCV002388045;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965892	90965892	8:g.90965892C>T	ClinGen:CA371655877	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1425G>C (p.Met475Ile)	4683	NBN	Uncertain significance	1180796619	RCV000772316\|RCV001042170;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965892	90965892	NC_000008.10:g.90965892C>G	-
NM_002485.5(NBN):c.1424T>C (p.Met475Thr)	4683	NBN	Uncertain significance	-1	RCV002391903\|RCV003103684;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965893	90965893	90965893	-
NM_002485.5(NBN):c.1423A>C (p.Met475Leu)	4683	NBN	Uncertain significance	767106269	RCV000465521\|RCV000579999;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965894	90965894	NC_000008.10:g.90965894T>G	ClinGen:CA16612537	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1423A>T (p.Met475Leu)	4683	NBN	Uncertain significance	767106269	RCV001043821;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965894	90965894	8:g.90965894T>A	-
NM_002485.5(NBN):c.1419A>G (p.Gln473=)	4683	NBN	Likely benign	587780535	RCV000163038\|RCV000599807\|RCV000679452\|RCV001080026;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965898	90965898	8:g.90965898T>C	ClinGen:CA187300	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys)	4683	NBN	Conflicting interpretations of pathogenicity	755805461	RCV000213681\|RCV000463881\|RCV000484796\|RCV003475035;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965900	90965900	8:g.90965900G>T	ClinGen:CA4802721	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu)	4683	NBN	Uncertain significance	755805461	RCV000988084\|RCV001011437;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965900	90965900	8:g.90965900G>C	-
NM_002485.5(NBN):c.1417C>T (p.Gln473Ter)	4683	NBN	Pathogenic	755805461	RCV001385912;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965900	90965900	90965900	-
NM_002485.5(NBN):c.1415A>G (p.Asn472Ser)	4683	NBN	Uncertain significance	750711786	RCV000226778\|RCV000568186\|RCV001559451;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90965902	90965902	8:g.90965902T>C	ClinGen:CA4802723	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1414A>T (p.Asn472Tyr)	4683	NBN	Uncertain significance	2129704060	RCV002028742;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965903	90965903	90965903	-
NM_002485.5(NBN):c.1413A>C (p.Glu471Asp)	4683	NBN	Uncertain significance	1554558584	RCV001853929;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965904	90965904	8:g.90965904T>G	ClinGen:CA371655905	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1413A>G (p.Glu471=)	4683	NBN	Likely benign	1554558584	RCV002215814;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965904	90965904	90965904	-
NM_002485.5(NBN):c.1412A>G (p.Glu471Gly)	4683	NBN	Uncertain significance	878854505	RCV000231885\|RCV000567179\|RCV003469158;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965905	90965905	8:g.90965905T>C	ClinGen:CA10582597	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1410A>G (p.Glu470=)	4683	NBN	Conflicting interpretations of pathogenicity	1554558592	RCV000572616\|RCV001800780\|RCV001764653;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90965907	90965907	8:g.90965907T>C	ClinGen:CA462114864	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1409A>G (p.Glu470Gly)	4683	NBN	Uncertain significance	876660501	RCV000220377\|RCV000806185;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965908	90965908	8:g.90965908T>C	ClinGen:CA10578764	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1406A>G (p.Asp469Gly)	4683	NBN	Uncertain significance	780365310	RCV000697437\|RCV001176913;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965911	90965911	NC_000008.10:g.90965911T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)	4683	NBN	Conflicting interpretations of pathogenicity	148205441	RCV000121613\|RCV000129788\|RCV000167890\|RCV000588734\|RCV002225383\|RCV003389699\|RCV003474728;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|\|Human Phenotype Ontology:HP:0001	8	90965912	90965912	8:g.90965912C>A	ClinGen:CA160966	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1405G>A (p.Asp469Asn)	4683	NBN	Uncertain significance	148205441	RCV000166769\|RCV000636701;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965912	90965912	8:g.90965912C>T	ClinGen:CA196691	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1405del (p.Asp469fs)	4683	NBN	Pathogenic	2129704309	RCV001887944;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965912	90965912	90965911	-
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser)	4683	NBN	Uncertain significance	730881851	RCV000160789\|RCV000206062\|RCV000562418\|RCV003462101;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90965913	90965913	NC_000008.10:g.90965913C>A	ClinGen:CA299615	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1404G>C (p.Arg468Ser)	4683	NBN	Uncertain significance	730881851	RCV001995784;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965913	90965913	90965913	-
NM_002485.5(NBN):c.1403G>A (p.Arg468Lys)	4683	NBN	Uncertain significance	781213350	RCV000468108\|RCV001011347;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965914	90965914	NC_000008.10:g.90965914C>T	ClinGen:CA4802727	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1403G>C (p.Arg468Thr)	4683	NBN	Uncertain significance	781213350	RCV000815957\|RCV001011348;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965914	90965914	8:g.90965914C>G	-
NM_002485.5(NBN):c.1402A>G (p.Arg468Gly)	4683	NBN	Uncertain significance	769862680	RCV001980702\|RCV003303582;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90965915	90965915	90965915	-
NM_002485.5(NBN):c.1401A>G (p.Glu467=)	4683	NBN	Likely benign	2129704446	RCV001447647;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965916	90965916	90965916	-
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter)	4683	NBN	Pathogenic	1554558613	RCV000571949\|RCV000801906\|RCV001356206;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0007254,MedGen:C0006142	8	90965918	90965918	8:g.90965918C>A	ClinGen:CA371655931	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1398-2A>G	4683	NBN	Likely pathogenic	2129704501	RCV002010366;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965921	90965921	90965921	-
NM_002485.5(NBN):c.1398-4dup	4683	NBN	Likely benign	2129704523	RCV001415188;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965922	90965923	90965922	-
NM_002485.5(NBN):c.1398-5C>G	4683	NBN	Uncertain significance	2129704548	RCV002023672;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965924	90965924	90965924	-
NM_002485.5(NBN):c.1398-7A>G	4683	NBN	Uncertain significance	1563527772	RCV000686885;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965926	90965926	8:g.90965926T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1398-8A>T	4683	NBN	Likely benign	2129704576	RCV001458412;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965927	90965927	90965927	-
NM_002485.5(NBN):c.1398-10dup	4683	NBN	Benign/Likely benign	587780555	RCV000160772\|RCV000504209\|RCV000759887\|RCV001080891;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965928	90965929	8:g.90965928_90965929insA	ClinGen:CA332111	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1398-9A>T	4683	NBN	Likely benign	773093849	RCV000552138\|RCV001566591;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90965928	90965928	NC_000008.10:g.90965928T>A	ClinGen:CA4802731	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1398-9A>G	4683	NBN	Likely benign	773093849	RCV001400814;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965928	90965928	90965928	-
NM_002485.5(NBN):c.1398-10T>A	4683	NBN	Conflicting interpretations of pathogenicity	539960851	RCV000214666\|RCV000463346\|RCV001355059\|RCV002225524;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	8	90965929	90965929	8:g.90965929A>T	ClinGen:CA4802732	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1398-10del	4683	NBN	Likely benign	587780555	RCV000636814;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965929	90965929	NC_000008.10:g.90965937del	ClinGen:CA4802730	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1398-10T>C	4683	NBN	Likely benign	539960851	RCV000874143;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965929	90965929	8:g.90965929A>G	-
NM_002485.5(NBN):c.1398-13_1398-10del	4683	NBN	Likely benign	587780555	RCV001501027;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965929	90965932	8:g.90965929_90965932del	-
NM_002485.5(NBN):c.1398-14T>A	4683	NBN	Likely benign	774489464	RCV002067312;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965933	90965933	NC_000008.10:g.90965933A>T	-
NM_002485.5(NBN):c.1398-15T>A	4683	NBN	Likely benign	-1	RCV002856139;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965934	90965934	NC_000008.10:g.90965934A>T	-
NM_002485.5(NBN):c.1398-17T>G	4683	NBN	Conflicting interpretations of pathogenicity	561077201	RCV000480010\|RCV002063747;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965936	90965936	8:g.90965936A>C	ClinGen:CA4802735	CN169374 not specified;
NM_002485.5(NBN):c.1398-19_1398-17del	4683	NBN	Likely benign	1297354269	RCV001443489;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965936	90965938	8:g.90965936_90965938del	-
NM_002485.5(NBN):c.1398-19C>T	4683	NBN	Benign/Likely benign	201495716	RCV000160771\|RCV001514409\|RCV002225464\|RCV003315964;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:	8	90965938	90965938	NC_000008.10:g.90965938G>A	ClinGen:CA299579	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1398-19C>G	4683	NBN	Likely benign	-1	RCV003082359;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965938	90965938	NC_000008.10:g.90965938G>C	-
NM_002485.5(NBN):c.1398-19del	4683	NBN	Likely benign	-1	RCV002947914;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90965938	90965938	NC_000008.10:g.90965938del	-
NM_002485.5(NBN):c.1397+16C>T	4683	NBN	Likely benign	2129716112	RCV002128096;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967495	90967495	90967495	-
NM_002485.5(NBN):c.1397+15A>G	4683	NBN	Likely benign	2129716128	RCV001874006;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967496	90967496	90967496	-
NM_002485.5(NBN):c.1397+6_1397+11del	4683	NBN	Uncertain significance	-1	RCV002607537;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967500	90967505	NC_000008.10:g.90967502_90967507del	-
NM_002485.5(NBN):c.1397+10T>C	4683	NBN	Likely benign	1554558985	RCV001495929;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967501	90967501	8:g.90967501A>G	ClinGen:CA658683529	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1397+1_1397+9del	4683	NBN	Likely pathogenic	2129716262	RCV001379804\|RCV002395862;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967502	90967510	90967501	-
NM_002485.5(NBN):c.1397+9T>C	4683	NBN	Likely benign	1810644919	RCV002110852;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967502	90967502	90967502	-
NM_002485.5(NBN):c.1397+8T>C	4683	NBN	Likely benign	2129716281	RCV001496444;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967503	90967503	90967503	-
NM_002485.5(NBN):c.1397+7T>G	4683	NBN	Likely benign	1554558986	RCV001398219;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967504	90967504	8:g.90967504A>C	ClinGen:CA658683530	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1397+5G>C	4683	NBN	Uncertain significance	1060503489	RCV000464807;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967506	90967506	NC_000008.10:g.90967506C>G	ClinGen:CA16612481	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1397+4T>C	4683	NBN	Conflicting interpretations of pathogenicity	770699381	RCV000418813\|RCV001011354\|RCV001307656;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967507	90967507	8:g.90967507A>G	ClinGen:CA4802756	CN169374 not specified;
NM_002485.5(NBN):c.1397+4T>G	4683	NBN	Uncertain significance	770699381	RCV001192406\|RCV001319392;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967507	90967507	8:g.90967507A>C	-
NM_002485.5(NBN):c.1397+3C>G	4683	NBN	Conflicting interpretations of pathogenicity	876660481	RCV000216247\|RCV000636797;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967508	90967508	8:g.90967508G>C	ClinGen:CA10578766	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1397+2T>A	4683	NBN	Likely pathogenic	730881850	RCV000160788\|RCV000459098\|RCV003467262;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90967509	90967509	NC_000008.10:g.90967509A>T	ClinGen:CA299614	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1397+1del	4683	NBN	Pathogenic	1060503467	RCV000469494\|RCV000570201\|RCV001547217\|RCV002496787\|RCV003470490;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MON	8	90967510	90967510	NC_000008.10:g.90967511del	ClinGen:CA16612538	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1396dup (p.Arg466fs)	4683	NBN	Pathogenic/Likely pathogenic	1349928568	RCV000584003\|RCV000636764\|RCV003159982\|RCV003471930;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|Human Phenotype Ontology:HP:00	8	90967511	90967512	8:g.90967511_90967512insT	ClinGen:CA658683531	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1396del (p.Arg466fs)	4683	NBN	Pathogenic/Likely pathogenic	1349928568	RCV000673266\|RCV002388183\|RCV003448981;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0018905,MeSH:D016403,MedGen:C0079744, Orphanet:544	8	90967512	90967512	8:g.90967512_90967512del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1396A>G (p.Arg466Gly)	4683	NBN	Uncertain significance	1810646211	RCV001208142;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967512	90967512	8:g.90967512T>C	-
NM_002485.5(NBN):c.1395A>G (p.Lys465=)	4683	NBN	Conflicting interpretations of pathogenicity	1213870507	RCV000563286\|RCV001449253;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967513	90967513	8:g.90967513T>C	ClinGen:CA462114815	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1394A>G (p.Lys465Arg)	4683	NBN	Uncertain significance	-1	RCV003049851;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967514	90967514	NC_000008.10:g.90967514T>C	-
NM_002485.5(NBN):c.1392A>G (p.Lys464=)	4683	NBN	Likely benign	2129716580	RCV001466109;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967516	90967516	90967516	-
NM_002485.5(NBN):c.1391A>G (p.Lys464Arg)	4683	NBN	Uncertain significance	2129716605	RCV001884426;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967517	90967517	90967517	-
NM_002485.5(NBN):c.1390A>G (p.Lys464Glu)	4683	NBN	Uncertain significance	2129716633	RCV002032888;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967518	90967518	90967518	-
NM_002485.5(NBN):c.1388C>T (p.Thr463Ile)	4683	NBN	Uncertain significance	2129716704	RCV001909754\|RCV002388819;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967520	90967520	90967520	-
NM_002485.5(NBN):c.1387A>G (p.Thr463Ala)	4683	NBN	Uncertain significance	745821964	RCV000812465\|RCV003279091;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967521	90967521	8:g.90967521T>C	-
NM_002485.5(NBN):c.1386T>C (p.Ser462=)	4683	NBN	Likely benign	772094384	RCV002185834;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967522	90967522	90967522	-
NM_002485.5(NBN):c.1385C>T (p.Ser462Phe)	4683	NBN	Uncertain significance	1563530730	RCV000685203\|RCV003362887;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967523	90967523	NC_000008.10:g.90967523G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1383G>A (p.Pro461=)	4683	NBN	Conflicting interpretations of pathogenicity	886063169	RCV000357753\|RCV000566911\|RCV000431381;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90967525	90967525	NC_000008.10:g.90967525C>T	ClinGen:CA10631749	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu)	4683	NBN	Conflicting interpretations of pathogenicity	367760321	RCV000539528\|RCV000567288\|RCV001591216\|RCV001821527\|RCV003419937\|RCV003476251;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:1	8	90967526	90967526	NC_000008.10:g.90967526G>A	ClinGen:CA4802760	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1381C>T (p.Pro461Ser)	4683	NBN	Uncertain significance	1554559015	RCV000533485;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967527	90967527	NC_000008.10:g.90967527G>A	ClinGen:CA371655980	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1379A>G (p.Gln460Arg)	4683	NBN	Uncertain significance	2129716929	RCV002028408;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967529	90967529	90967529	-
NM_002485.5(NBN):c.1377dup (p.Gln460fs)	4683	NBN	Pathogenic	1554559028	RCV000552774;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967530	90967531	NC_000008.10:g.90967533dup	ClinGen:CA658657798	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1377T>G (p.Phe459Leu)	4683	NBN	Uncertain significance	1397458119	RCV002006582\|RCV002386895;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967531	90967531	90967531	-
NM_002485.5(NBN):c.1374C>T (p.Tyr458=)	4683	NBN	Likely benign	2129717018	RCV001456671\|RCV002384714;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967534	90967534	90967534	-
NM_002485.5(NBN):c.1373A>G (p.Tyr458Cys)	4683	NBN	Uncertain significance	544909538	RCV000119215\|RCV000215482\|RCV000507373\|RCV001575895;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	8	90967535	90967535	8:g.90967535T>C	ClinGen:CA332094	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1370A>G (p.Asn457Ser)	4683	NBN	Uncertain significance	876659312	RCV000222178\|RCV000479010\|RCV000590244\|RCV000636705;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967538	90967538	8:g.90967538T>C	ClinGen:CA10578767	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1369A>G (p.Asn457Asp)	4683	NBN	Uncertain significance	1554559034	RCV001303461;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967539	90967539	NC_000008.10:g.90967539T>C	ClinGen:CA371656011	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1368A>G (p.Arg456=)	4683	NBN	Likely benign	1554559036	RCV000581562\|RCV002061879;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967540	90967540	8:g.90967540T>C	ClinGen:CA462114852	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1368A>C (p.Arg456Ser)	4683	NBN	Uncertain significance	1554559036	RCV000771446\|RCV001800867;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967540	90967540	NC_000008.10:g.90967540T>G	-
NM_002485.5(NBN):c.1366del (p.Arg456fs)	4683	NBN	Pathogenic	1554559038	RCV001060890;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967542	90967542	8:g.90967542_90967542del	ClinGen:CA658683532	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1366A>G (p.Arg456Gly)	4683	NBN	Uncertain significance	1586058203	RCV001011063\|RCV001827176;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967542	90967542	8:g.90967542T>C	-
NM_002485.5(NBN):c.1365C>G (p.Ile455Met)	4683	NBN	Uncertain significance	1810649752	RCV001070358;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967543	90967543	8:g.90967543G>C	-
NM_002485.5(NBN):c.1363A>G (p.Ile455Val)	4683	NBN	Uncertain significance	1554559041	RCV000772506\|RCV001236893;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967545	90967545	NC_000008.10:g.90967545T>C	-
NM_002485.5(NBN):c.1362dup (p.Ile455fs)	4683	NBN	Pathogenic	2129717307	RCV001389205;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967545	90967546	90967545	-
NM_002485.5(NBN):c.1362C>T (p.Ser454=)	4683	NBN	Likely benign	587780775	RCV000123205\|RCV000221286;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967546	90967546	8:g.90967546G>A	ClinGen:CA332813	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr)	4683	NBN	Uncertain significance	587780774	RCV000123204\|RCV000571647\|RCV001284025\|RCV003474738;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90967547	90967547	8:g.90967547G>T	ClinGen:CA332810	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1359C>A (p.Asn453Lys)	4683	NBN	Uncertain significance	1412358437	RCV000791840\|RCV001011162;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967549	90967549	8:g.90967549G>T	-
NM_002485.5(NBN):c.1356C>T (p.Thr452=)	4683	NBN	Likely benign	1402518842	RCV001482857\|RCV002382155;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967552	90967552	8:g.90967552G>A	-
NM_002485.5(NBN):c.1355C>T (p.Thr452Ile)	4683	NBN	Uncertain significance	1810650900	RCV001228269\|RCV002379872;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967553	90967553	8:g.90967553G>A	-
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)	4683	NBN	Conflicting interpretations of pathogenicity	141137543	RCV000131458\|RCV000199946\|RCV000212747\|RCV000735122\|RCV002225444;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	8	90967554	90967554	8:g.90967554T>G	ClinGen:CA294382	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1352_1353delinsCC (p.Gln451Pro)	4683	NBN	Uncertain significance	1554559065	RCV000562977\|RCV001228078\|RCV001764643;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90967555	90967556	NC_000008.10:g.90967555_90967556delinsGG	ClinGen:CA658657799	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1353G>C (p.Gln451His)	4683	NBN	Uncertain significance	1554559063	RCV000808353;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967555	90967555	8:g.90967555C>G	-
NM_002485.5(NBN):c.1352A>G (p.Gln451Arg)	4683	NBN	Uncertain significance	1554559068	RCV000571072\|RCV001245760;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967556	90967556	8:g.90967556T>C	ClinGen:CA371656047	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1351C>G (p.Gln451Glu)	4683	NBN	Uncertain significance	1011573169	RCV000563541\|RCV001050887\|RCV001591329;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90967557	90967557	8:g.90967557G>C	ClinGen:CA371656050	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1350G>A (p.Gln450=)	4683	NBN	Likely benign	2129717669	RCV001468275\|RCV002384749;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967558	90967558	90967558	-
NM_002485.5(NBN):c.1349A>G (p.Gln450Arg)	4683	NBN	Uncertain significance	776210901	RCV000693711;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967559	90967559	8:g.90967559T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1349A>C (p.Gln450Pro)	4683	NBN	Uncertain significance	776210901	RCV001011001\|RCV001860655;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967559	90967559	8:g.90967559T>G	-
NM_002485.5(NBN):c.1347G>A (p.Gln449=)	4683	NBN	Likely benign	761492204	RCV000474504\|RCV000561724;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967561	90967561	NC_000008.10:g.90967561C>T	ClinGen:CA4802763	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)	4683	NBN	Conflicting interpretations of pathogenicity	146403088	RCV000160787\|RCV000200818\|RCV000656928\|RCV001264572\|RCV003474834;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90967565	90967565	NC_000008.10:g.90967565T>A	ClinGen:CA239214	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1338T>C (p.Ala446=)	4683	NBN	Likely benign	1373132755	RCV000575103\|RCV000835162\|RCV001088699;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967570	90967570	8:g.90967570A>G	ClinGen:CA462114891	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1338T>G (p.Ala446=)	4683	NBN	Likely benign	1373132755	RCV002082878;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967570	90967570	90967570	-
NM_002485.5(NBN):c.1336del (p.Ala446fs)	4683	NBN	Pathogenic/Likely pathogenic	1554559083	RCV000573746\|RCV001058183\|RCV003476332;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90967572	90967572	8:g.90967572_90967572del	ClinGen:CA658657800	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1336G>A (p.Ala446Thr)	4683	NBN	Uncertain significance	1586058411	RCV000802333\|RCV001545957;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN517202	8	90967572	90967572	8:g.90967572C>T	-
NM_002485.5(NBN):c.1335G>A (p.Arg445=)	4683	NBN	Likely benign	1554559085	RCV000563089\|RCV001422574;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967573	90967573	8:g.90967573C>T	ClinGen:CA462114892	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1335G>T (p.Arg445Ser)	4683	NBN	Uncertain significance	1554559085	RCV000563792\|RCV001800777;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967573	90967573	8:g.90967573C>A	ClinGen:CA371656085	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1335G>C (p.Arg445Ser)	4683	NBN	Uncertain significance	1554559085	RCV000806910;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967573	90967573	8:g.90967573C>G	-
NM_002485.5(NBN):c.1334G>C (p.Arg445Thr)	4683	NBN	Uncertain significance	1448696637	RCV000575279\|RCV001858317;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967574	90967574	NC_000008.10:g.90967574C>G	ClinGen:CA371656089	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1332dup (p.Arg445Ter)	4683	NBN	Pathogenic	1586058444	RCV000817450\|RCV002381840;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967575	90967576	8:g.90967575_90967576insA	-
NM_002485.5(NBN):c.1332T>C (p.Asp444=)	4683	NBN	Likely benign	1810653364	RCV001454518;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967576	90967576	90967576	-
NM_002485.5(NBN):c.1331A>C (p.Asp444Ala)	4683	NBN	Uncertain significance	1237800234	RCV000571693\|RCV000636738;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967577	90967577	NC_000008.10:g.90967577T>G	ClinGen:CA371656096	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1327A>G (p.Lys443Glu)	4683	NBN	Uncertain significance	1554559094	RCV000636729;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967581	90967581	NC_000008.10:g.90967581T>C	ClinGen:CA371656105	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter)	4683	NBN	Pathogenic/Likely pathogenic	1554559094	RCV000799574\|RCV003467379;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90967581	90967581	8:g.90967581T>A	-
NM_002485.5(NBN):c.1324A>G (p.Ser442Gly)	4683	NBN	Uncertain significance	1554559097	RCV000576143\|RCV001069253;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967584	90967584	8:g.90967584T>C	ClinGen:CA371656114	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1322A>G (p.Lys441Arg)	4683	NBN	Uncertain significance	1329281031	RCV000636774\|RCV001011010;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967586	90967586	NC_000008.10:g.90967586T>C	ClinGen:CA371656119	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1322A>C (p.Lys441Thr)	4683	NBN	Uncertain significance	1329281031	RCV000702528\|RCV002386255;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967586	90967586	NC_000008.10:g.90967586T>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1321A>G (p.Lys441Glu)	4683	NBN	Uncertain significance	751876787	RCV001368924\|RCV002384531;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967587	90967587	90967587	-
NM_002485.5(NBN):c.1317A>G (p.Ile439Met)	4683	NBN	Conflicting interpretations of pathogenicity	28538230	RCV000115781\|RCV000173760\|RCV001082062\|RCV001292773\|RCV001355697\|RCV001719859;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90967591	90967591	8:g.90967591T>C	ClinGen:CA200704	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1315A>G (p.Ile439Val)	4683	NBN	Conflicting interpretations of pathogenicity	752837508	RCV000214707\|RCV000229100;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967593	90967593	8:g.90967593T>C	ClinGen:CA4802766	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1314T>C (p.Ser438=)	4683	NBN	Likely benign	1057521491	RCV000435396\|RCV000555927\|RCV001010922;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967594	90967594	8:g.90967594A>G	ClinGen:CA16605511	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1313G>T (p.Ser438Ile)	4683	NBN	Uncertain significance	786203131	RCV000166304\|RCV000204846\|RCV000780521;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90967595	90967595	8:g.90967595C>A	ClinGen:CA195519	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1313G>A (p.Ser438Asn)	4683	NBN	Uncertain significance	786203131	RCV000699980\|RCV000774986;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967595	90967595	8:g.90967595C>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1312A>G (p.Ser438Gly)	4683	NBN	Conflicting interpretations of pathogenicity	1456827107	RCV000573699\|RCV001063253;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967596	90967596	NC_000008.10:g.90967596T>C	ClinGen:CA371656141	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1309C>T (p.Pro437Ser)	4683	NBN	Uncertain significance	1810656128	RCV001044578;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967599	90967599	8:g.90967599G>A	-
NM_002485.5(NBN):c.1308G>A (p.Leu436=)	4683	NBN	Likely benign	756208277	RCV002088203;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967600	90967600	90967600	-
NM_002485.5(NBN):c.1307T>A (p.Leu436Ter)	4683	NBN	Likely pathogenic	-1	RCV002308118;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967601	90967601	90967601	-
NM_002485.5(NBN):c.1306T>C (p.Leu436=)	4683	NBN	Likely benign	375885975	RCV000204069\|RCV000574841\|RCV001697241;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90967602	90967602	8:g.90967602A>G	ClinGen:CA348331	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1301C>T (p.Thr434Ile)	4683	NBN	Uncertain significance	757452107	RCV000164372\|RCV000464605\|RCV001797059;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90967607	90967607	8:g.90967607G>A	ClinGen:CA190795	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1301C>A (p.Thr434Asn)	4683	NBN	Uncertain significance	757452107	RCV000167272\|RCV000820553;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967607	90967607	8:g.90967607G>T	ClinGen:CA197896	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1301C>G (p.Thr434Ser)	4683	NBN	Uncertain significance	757452107	RCV000538781\|RCV001010864;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967607	90967607	8:g.90967607G>C	ClinGen:CA371656162	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1299A>G (p.Pro433=)	4683	NBN	Likely benign	1161505808	RCV000526489\|RCV000581219\|RCV001707726;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90967609	90967609	NC_000008.10:g.90967609T>C	ClinGen:CA462114919	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1298C>G (p.Pro433Arg)	4683	NBN	Uncertain significance	1554559140	RCV000550358;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967610	90967610	8:g.90967610G>C	ClinGen:CA371656166	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1292_1297del (p.Leu431_Ser432del)	4683	NBN	Uncertain significance	-1	RCV002863345;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967611	90967616	NC_000008.10:g.90967612_90967617del	-
NM_002485.5(NBN):c.1296A>G (p.Ser432=)	4683	NBN	Likely benign	1554559144	RCV000569814\|RCV002526880;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967612	90967612	8:g.90967612T>C	ClinGen:CA462114925	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1295C>T (p.Ser432Leu)	4683	NBN	Uncertain significance	1258938703	RCV001010810\|RCV001221398;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967613	90967613	8:g.90967613G>A	-
NM_002485.5(NBN):c.1293T>A (p.Leu431=)	4683	NBN	Likely benign	2129718873	RCV002207641;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967615	90967615	90967615	-
NM_002485.5(NBN):c.1291C>T (p.Leu431Phe)	4683	NBN	Uncertain significance	1586058701	RCV001904649;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967617	90967617	90967617	-
NM_002485.5(NBN):c.1290G>C (p.Gln430His)	4683	NBN	Uncertain significance	1554559149	RCV000537438\|RCV001010788;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967618	90967618	8:g.90967618C>G	ClinGen:CA371656184	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1289A>G (p.Gln430Arg)	4683	NBN	Uncertain significance	1563531531	RCV001239659;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967619	90967619	NC_000008.10:g.90967619T>C	-
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)	4683	NBN	Pathogenic	-1	RCV002383218\|RCV003094921;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967621	90967621	90967621	-
NM_002485.5(NBN):c.1286A>G (p.Tyr429Cys)	4683	NBN	Uncertain significance	370121348	RCV000636699\|RCV001188073;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967622	90967622	8:g.90967622T>C	ClinGen:CA181260442	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1286A>C (p.Tyr429Ser)	4683	NBN	Uncertain significance	370121348	RCV001051883;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967622	90967622	8:g.90967622T>G	-
NM_002485.5(NBN):c.1285T>G (p.Tyr429Asp)	4683	NBN	Uncertain significance	587782409	RCV000131448\|RCV000173758\|RCV001039652;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967623	90967623	8:g.90967623A>C	ClinGen:CA168168	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1284C>G (p.Asn428Lys)	4683	NBN	Uncertain significance	1586058745	RCV001010746\|RCV001221145;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967624	90967624	8:g.90967624G>C	-
NM_002485.5(NBN):c.1283A>T (p.Asn428Ile)	4683	NBN	Uncertain significance	1406123091	RCV000525048\|RCV000564622;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967625	90967625	8:g.90967625T>A	ClinGen:CA371656201	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp)	4683	NBN	Uncertain significance	786202302	RCV000165044\|RCV000476294\|RCV000588529\|RCV001788056;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90967626	90967626	8:g.90967626T>C	ClinGen:CA192382	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1281A>G (p.Pro427=)	4683	NBN	Likely benign	1554559167	RCV000582262\|RCV000607661\|RCV000870718;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967627	90967627	8:g.90967627T>C	ClinGen:CA462114939	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1280C>G (p.Pro427Arg)	4683	NBN	Uncertain significance	778881191	RCV000700776\|RCV001805815;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967628	90967628	NC_000008.10:g.90967628G>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1279C>A (p.Pro427Thr)	4683	NBN	Uncertain significance	1554559171	RCV000569911\|RCV001054209\|RCV002491138;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967	8	90967629	90967629	NC_000008.10:g.90967629G>T	ClinGen:CA371656207	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1275A>T (p.Arg425Ser)	4683	NBN	Uncertain significance	916556331	RCV000772165\|RCV001856009;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967633	90967633	NC_000008.10:g.90967633T>A	-
NM_002485.5(NBN):c.1274G>A (p.Arg425Lys)	4683	NBN	Conflicting interpretations of pathogenicity	1060503478	RCV000463281\|RCV000565324\|RCV002279233;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90967634	90967634	NC_000008.10:g.90967634C>T	ClinGen:CA16612541	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1274G>C (p.Arg425Thr)	4683	NBN	Uncertain significance	1060503478	RCV001307685;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967634	90967634	90967634	-
NM_002485.5(NBN):c.1273A>C (p.Arg425=)	4683	NBN	Likely benign	1554559177	RCV000535978;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967635	90967635	8:g.90967635T>G	ClinGen:CA462114948	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1272G>A (p.Met424Ile)	4683	NBN	Uncertain significance	-1	RCV002797057;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967636	90967636	NC_000008.10:g.90967636C>T	-
NM_002485.5(NBN):c.1272G>T (p.Met424Ile)	4683	NBN	Uncertain significance	-1	RCV002938634;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967636	90967636	NC_000008.10:g.90967636C>A	-
NM_002485.5(NBN):c.1269G>A (p.Lys423=)	4683	NBN	Likely benign	2129719377	RCV002086523\|RCV002259165;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967639	90967639	90967639	-
NM_002485.5(NBN):c.1268A>G (p.Lys423Arg)	4683	NBN	Conflicting interpretations of pathogenicity	1444306607	RCV000572328\|RCV001041861;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967640	90967640	8:g.90967640T>C	ClinGen:CA371656233	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1266T>C (p.Ala422=)	4683	NBN	Likely benign	2129719439	RCV001442005\|RCV002377723;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967642	90967642	90967642	-
NM_002485.5(NBN):c.1265C>G (p.Ala422Gly)	4683	NBN	Uncertain significance	1810660625	RCV001228702\|RCV002447146;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967643	90967643	8:g.90967643G>C	-
NM_002485.5(NBN):c.1264G>T (p.Ala422Ser)	4683	NBN	Uncertain significance	1336243918	RCV001358614\|RCV002547697;	N	MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967644	90967644	90967644	-
NM_002485.5(NBN):c.1264G>A (p.Ala422Thr)	4683	NBN	Uncertain significance	1336243918	RCV001990287;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967644	90967644	90967644	-
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)	4683	NBN	Conflicting interpretations of pathogenicity	104895032	RCV000114875\|RCV000115780\|RCV000123203\|RCV000212745\|RCV000515275\|RCV000757930\|RCV001358304;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:000480	8	90967646	90967646	8:g.90967646A>G	ClinGen:CA230729	C0023449 613065 Acute lymphoid leukemia;
NM_002485.5(NBN):c.1261T>C (p.Leu421=)	4683	NBN	Likely benign	2129719531	RCV002194354;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967647	90967647	90967647	-
NM_002485.5(NBN):c.1260T>A (p.Thr420=)	4683	NBN	Likely benign	1554559199	RCV000601226\|RCV001481396\|RCV002438579;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967648	90967648	8:g.90967648A>T	ClinGen:CA462114963	CN169374 not specified;
NM_002485.5(NBN):c.1259C>G (p.Thr420Ser)	4683	NBN	Uncertain significance	-1	RCV003009583\|RCV003009584;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MeSH:D030342,MedGen:C0950123	8	90967649	90967649	NC_000008.10:g.90967649G>C	-
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)	4683	NBN	Pathogenic/Likely pathogenic	1238152597	RCV000636766\|RCV000657459\|RCV001010571\|RCV003465395;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90967650	90967653	NC_000008.10:g.90967651_90967654del	ClinGen:CA583843908	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1257T>C (p.Asn419=)	4683	NBN	Likely benign	1586058905	RCV000983560;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967651	90967651	8:g.90967651A>G	-
NM_002485.5(NBN):c.1255A>G (p.Asn419Asp)	4683	NBN	Uncertain significance	730881849	RCV000160786\|RCV000212744\|RCV001304232;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967653	90967653	NC_000008.10:g.90967653T>C	ClinGen:CA299611	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1255A>C (p.Asn419His)	4683	NBN	Uncertain significance	730881849	RCV000559800\|RCV001010572;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967653	90967653	8:g.90967653T>G	ClinGen:CA4802771	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1255A>T (p.Asn419Tyr)	4683	NBN	Uncertain significance	730881849	RCV001010573\|RCV001364886;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967653	90967653	8:g.90967653T>A	-
NM_002485.5(NBN):c.1254A>G (p.Ser418=)	4683	NBN	Likely benign	2129719709	RCV001460588;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967654	90967654	90967654	-
NM_002485.5(NBN):c.1253C>T (p.Ser418Leu)	4683	NBN	Uncertain significance	1554559212	RCV000636748;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967655	90967655	8:g.90967655G>A	ClinGen:CA16622017	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1253C>A (p.Ser418Ter)	4683	NBN	Pathogenic	1554559212	RCV000819368\|RCV002415924;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967655	90967655	8:g.90967655G>T	-
NM_002485.5(NBN):c.1251A>G (p.Val417=)	4683	NBN	Likely benign	749316300	RCV000636801;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967657	90967657	NC_000008.10:g.90967657T>C	ClinGen:CA4802772	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1250T>G (p.Val417Gly)	4683	NBN	Uncertain significance	1554559216	RCV000542974;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967658	90967658	8:g.90967658A>C	ClinGen:CA371656266	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1250T>C (p.Val417Ala)	4683	NBN	Uncertain significance	1554559216	RCV001057321\|RCV002409468;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967658	90967658	8:g.90967658A>G	-
NM_002485.5(NBN):c.1249G>C (p.Val417Leu)	4683	NBN	Uncertain significance	768087330	RCV001299558;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967659	90967659	90967659	-
NM_002485.5(NBN):c.1248G>T (p.Met416Ile)	4683	NBN	Conflicting interpretations of pathogenicity	756572268	RCV000164855\|RCV000534913\|RCV001582649\|RCV003468723;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90967660	90967660	8:g.90967660C>A	ClinGen:CA191930	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1248G>A (p.Met416Ile)	4683	NBN	Conflicting interpretations of pathogenicity	756572268	RCV001010556\|RCV002295316;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967660	90967660	8:g.90967660C>T	-
NM_002485.5(NBN):c.1247T>C (p.Met416Thr)	4683	NBN	Uncertain significance	863224713	RCV000198264\|RCV000759886\|RCV000781644\|RCV001010551\|RCV002503783;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontolog	8	90967661	90967661	NC_000008.10:g.90967661A>G	ClinGen:CA337757	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1246A>T (p.Met416Leu)	4683	NBN	Uncertain significance	1554559222	RCV001988443;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967662	90967662	90967662	-
NM_002485.5(NBN):c.1245T>C (p.Ser415=)	4683	NBN	Likely benign	776180689	RCV000613803\|RCV002531555;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967663	90967663	8:g.90967663A>G	ClinGen:CA4802774	CN169374 not specified;
NM_002485.5(NBN):c.1245T>G (p.Ser415Arg)	4683	NBN	Uncertain significance	776180689	RCV001318912;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967663	90967663	90967663	-
NM_002485.5(NBN):c.1243_1244insTTA (p.Asn414_Ser415insIle)	4683	NBN	Uncertain significance	587781532	RCV000129532\|RCV000560712;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967664	90967665	8:g.90967664_90967665insTAA	ClinGen:CA164613	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1244G>A (p.Ser415Asn)	4683	NBN	Conflicting interpretations of pathogenicity	764832388	RCV000792228\|RCV001010512;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967664	90967664	8:g.90967664C>T	-
NM_002485.5(NBN):c.1235ATA[2] (p.Asn414del)	4683	NBN	Uncertain significance	1563531915	RCV000689933;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967665	90967667	8:g.90967665_90967667del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1243A>C (p.Ser415Arg)	4683	NBN	Uncertain significance	-1	RCV002384931\|RCV003098568;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967665	90967665	90967665	-
NM_002485.5(NBN):c.1242T>C (p.Asn414=)	4683	NBN	Likely benign	864622135	RCV000561360\|RCV001413025;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967666	90967666	8:g.90967666A>G	ClinGen:CA349082	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1241A>G (p.Asn414Ser)	4683	NBN	Uncertain significance	1554559235	RCV000636713\|RCV002386023;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967667	90967667	8:g.90967667T>C	ClinGen:CA371656286	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1239T>C (p.Asn413=)	4683	NBN	Likely benign	1563531944	RCV001462375\|RCV002377781;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967669	90967669	90967669	-
NM_002485.5(NBN):c.1238A>G (p.Asn413Ser)	4683	NBN	Conflicting interpretations of pathogenicity	529340553	RCV000222002\|RCV000589729\|RCV001087448;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967670	90967670	8:g.90967670T>C	ClinGen:CA287901	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1237A>G (p.Asn413Asp)	4683	NBN	Uncertain significance	1810664293	RCV001224703\|RCV002366012;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967671	90967671	8:g.90967671T>C	-
NM_002485.5(NBN):c.1236T>A (p.Asn412Lys)	4683	NBN	Uncertain significance	-1	RCV002828068;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967672	90967672	NC_000008.10:g.90967672A>T	-
NM_002485.5(NBN):c.1234_1235del (p.Ser411_Asn412insTer)	4683	NBN	Pathogenic/Likely pathogenic	2129720196	RCV001388819\|RCV002368227\|RCV003469745;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90967673	90967674	90967672	-
NM_002485.5(NBN):c.1235A>G (p.Asn412Ser)	4683	NBN	Uncertain significance	-1	RCV002300241\|RCV003308124;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967673	90967673	90967673	-
NM_002485.5(NBN):c.1232C>G (p.Ser411Cys)	4683	NBN	Conflicting interpretations of pathogenicity	551032019	RCV000574288\|RCV000694630\|RCV000833202;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90967676	90967676	NC_000008.10:g.90967676G>C	ClinGen:CA4802777	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1231T>C (p.Ser411Pro)	4683	NBN	Uncertain significance	1563531982	RCV003117561;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967677	90967677	NC_000008.10:g.90967677A>G	-
NM_002485.5(NBN):c.1230C>G (p.Ser410Arg)	4683	NBN	Uncertain significance	878854504	RCV000234208\|RCV000579919;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967678	90967678	NC_000008.10:g.90967678G>C	ClinGen:CA10582598	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1230C>T (p.Ser410=)	4683	NBN	Likely benign	878854504	RCV002060733;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967678	90967678	8:g.90967678G>A	ClinGen:CA462114985	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1229G>T (p.Ser410Ile)	4683	NBN	Uncertain significance	982325971	RCV000700924\|RCV001010445;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967679	90967679	8:g.90967679C>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1229G>A (p.Ser410Asn)	4683	NBN	Uncertain significance	982325971	RCV000773081\|RCV001856041;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967679	90967679	NC_000008.10:g.90967679C>T	-
NM_002485.5(NBN):c.1228A>G (p.Ser410Gly)	4683	NBN	Uncertain significance	1185542329	RCV000531310\|RCV002367817;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967680	90967680	NC_000008.10:g.90967680T>C	ClinGen:CA371656315	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1227A>G (p.Thr409=)	4683	NBN	Likely benign	1554559251	RCV001405373;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967681	90967681	NC_000008.10:g.90967681T>C	ClinGen:CA462114988	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1226C>T (p.Thr409Ile)	4683	NBN	Uncertain significance	1810665559	RCV001227281;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967682	90967682	8:g.90967682G>A	-
NM_002485.5(NBN):c.1225del (p.Thr409fs)	4683	NBN	Pathogenic/Likely pathogenic	2129720423	RCV001870780\|RCV003470979;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90967683	90967683	90967682	-
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)	4683	NBN	Benign/Likely benign	34120922	RCV000115778\|RCV000119194\|RCV000200989\|RCV000588672\|RCV002225329\|RCV002490777\|RCV003315641;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0009623,MedGen:C03987	8	90967686	90967686	8:g.90967686T>C	ClinGen:CA151515,UniProtKB:O60934#VAR_051227	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1221C>G (p.Cys407Trp)	4683	NBN	Uncertain significance	-1	RCV003055359;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967687	90967687	NC_000008.10:g.90967687G>C	-
NM_002485.5(NBN):c.1220G>A (p.Cys407Tyr)	4683	NBN	Uncertain significance	1473253247	RCV001178736\|RCV001341643;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967688	90967688	8:g.90967688C>T	-
NM_002485.5(NBN):c.1219T>A (p.Cys407Ser)	4683	NBN	Uncertain significance	1060503460	RCV000466617\|RCV003298506;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967689	90967689	NC_000008.10:g.90967689A>T	ClinGen:CA16612666	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1218C>T (p.Ser406=)	4683	NBN	Likely benign	-1	RCV003084876;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967690	90967690		-
NM_002485.5(NBN):c.1217C>A (p.Ser406Tyr)	4683	NBN	Uncertain significance	1810666233	RCV001052606\|RCV002355037;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967691	90967691	8:g.90967691G>T	-
NM_002485.5(NBN):c.1215G>A (p.Glu405=)	4683	NBN	Likely benign	-1	RCV002838616;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967693	90967693		-
NM_002485.5(NBN):c.1213G>A (p.Glu405Lys)	4683	NBN	Uncertain significance	1810666621	RCV001323664\|RCV002357158;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967695	90967695	90967695	-
NM_002485.5(NBN):c.1212G>A (p.Lys404=)	4683	NBN	Likely benign	753212974	RCV001461051;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967696	90967696	90967696	-
NM_002485.5(NBN):c.1210A>G (p.Lys404Glu)	4683	NBN	Uncertain significance	761214266	RCV002049755;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967698	90967698	90967698	-
NM_002485.5(NBN):c.1205_1209del (p.Thr402fs)	4683	NBN	Uncertain significance	1563532144	RCV000778865;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967699	90967703	NC_000008.10:g.90967700_90967704del	-
NM_002485.5(NBN):c.1208T>A (p.Val403Glu)	4683	NBN	Uncertain significance	1554559273	RCV001362574;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967700	90967700	90967700	-
NM_002485.5(NBN):c.1203_1206dup (p.Val403fs)	4683	NBN	Pathogenic	1810667631	RCV001055302;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967701	90967702	8:g.90967701_90967702insAGTG	-
NM_002485.5(NBN):c.1206T>C (p.Thr402=)	4683	NBN	Likely benign	1810667513	RCV002560976;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967702	90967702	8:g.90967702A>G	-
NM_002485.5(NBN):c.1204A>G (p.Thr402Ala)	4683	NBN	Conflicting interpretations of pathogenicity	201373377	RCV000167134\|RCV000686355;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967704	90967704	8:g.90967704T>C	ClinGen:CA197574	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg)	4683	NBN	Uncertain significance	104895033	RCV000114876\|RCV000131207\|RCV000196440;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967706	90967706	8:g.90967706G>C	ClinGen:CA230732	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1202C>A (p.Pro401His)	4683	NBN	Uncertain significance	104895033	RCV000206791\|RCV000217964\|RCV000484365;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90967706	90967706	8:g.90967706G>T	ClinGen:CA350787	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1200A>G (p.Ala400=)	4683	NBN	Likely benign	2129720998	RCV001503860;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967708	90967708	90967708	-
NM_002485.5(NBN):c.1199C>T (p.Ala400Val)	4683	NBN	Uncertain significance	779218232	RCV000565537\|RCV001835853\|RCV003235291;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90967709	90967709	8:g.90967709G>A	ClinGen:CA4802780	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1199C>G (p.Ala400Gly)	4683	NBN	Uncertain significance	779218232	RCV001065088;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967709	90967709	8:g.90967709G>C	-
NM_002485.5(NBN):c.1198G>A (p.Ala400Thr)	4683	NBN	Conflicting interpretations of pathogenicity	551602980	RCV000217029\|RCV000988085\|RCV002478803;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90967710	90967710	8:g.90967710C>T	ClinGen:CA4802781	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1197_1198inv (p.Ala400Thr)	4683	NBN	Conflicting interpretations of pathogenicity	-1	RCV000474157\|RCV000486277\|RCV001797729\|RCV001805080;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967710	90967711	NC_000008.10:g.90967710_90967711inv	ClinGen:CA16612365	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1198G>C (p.Ala400Pro)	4683	NBN	Uncertain significance	551602980	RCV000636712;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967710	90967710	NC_000008.10:g.90967710C>G	ClinGen:CA371656374	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1197_1198delinsCT (p.Ala400Ser)	4683	NBN	Uncertain significance	1064795318	RCV000685569;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967710	90967711	NC_000008.10:g.90967710_90967711delinsAG	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1197T>C (p.Asp399=)	4683	NBN	Benign	709816	RCV000162376\|RCV000173761\|RCV000322749\|RCV001541313\|RCV002225468\|RCV003315972;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|Human Phenotype Ontology:HP:00048	8	90967711	90967711	8:g.90967711A>G	ClinGen:CA186171	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1196A>G (p.Asp399Gly)	4683	NBN	Uncertain significance	-1	RCV002843614;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967712	90967712	NC_000008.10:g.90967712T>C	-
NM_002485.5(NBN):c.1195G>A (p.Asp399Asn)	4683	NBN	Uncertain significance	1430248021	RCV001230933\|RCV002339633;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967713	90967713	8:g.90967713C>T	-
NM_002485.5(NBN):c.1194A>G (p.Gln398=)	4683	NBN	Likely benign	200046373	RCV000422717\|RCV000581041\|RCV000636755;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967714	90967714	8:g.90967714T>C	ClinGen:CA16605426	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1194A>C (p.Gln398His)	4683	NBN	Uncertain significance	200046373	RCV000580312\|RCV000800615\|RCV003465294;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90967714	90967714	NC_000008.10:g.90967714T>G	ClinGen:CA4802782	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1193A>G (p.Gln398Arg)	4683	NBN	Uncertain significance	746965070	RCV000473002\|RCV000573003;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967715	90967715	NC_000008.10:g.90967715T>C	ClinGen:CA4802783	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1192C>T (p.Gln398Ter)	4683	NBN	Pathogenic	2129721263	RCV001390505;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967716	90967716	90967716	-
NM_002485.5(NBN):c.1191A>G (p.Ser397=)	4683	NBN	Likely benign	2129721280	RCV001451978\|RCV002342001;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967717	90967717	90967717	-
NM_002485.5(NBN):c.1190C>T (p.Ser397Leu)	4683	NBN	Uncertain significance	1554559308	RCV000564989\|RCV002530253;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967718	90967718	8:g.90967718G>A	ClinGen:CA371656390	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1190C>G (p.Ser397Ter)	4683	NBN	Pathogenic	1554559308	RCV001388920;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967718	90967718	90967718	-
NM_002485.5(NBN):c.1190C>A (p.Ser397Ter)	4683	NBN	Pathogenic/Likely pathogenic	1554559308	RCV001956253;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967718	90967718	90967718	-
NM_002485.5(NBN):c.1188T>C (p.Leu396=)	4683	NBN	Likely benign	1554559312	RCV000636796\|RCV002334083;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967720	90967720	8:g.90967720A>G	ClinGen:CA462115034	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1187T>C (p.Leu396Pro)	4683	NBN	Uncertain significance	182030463	RCV001239968;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967721	90967721	8:g.90967721A>G	-
NM_002485.5(NBN):c.1182A>G (p.Arg394=)	4683	NBN	Likely benign	1586059412	RCV000931300\|RCV002336933;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967726	90967726	8:g.90967726T>C	-
NM_002485.5(NBN):c.1181G>A (p.Arg394Lys)	4683	NBN	Uncertain significance	1810670587	RCV001221720;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967727	90967727	8:g.90967727C>T	-
NM_002485.5(NBN):c.1180A>G (p.Arg394Gly)	4683	NBN	Uncertain significance	1060503470	RCV000466216\|RCV002339187;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967728	90967728	NC_000008.10:g.90967728T>C	ClinGen:CA16612368	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1180A>C (p.Arg394=)	4683	NBN	Likely benign	-1	RCV003066056;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967728	90967728		-
NM_002485.5(NBN):c.1177T>C (p.Phe393Leu)	4683	NBN	Uncertain significance	941732827	RCV000468237\|RCV000570523\|RCV001194317\|RCV001800687;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	8	90967731	90967731	NC_000008.10:g.90967731A>G	ClinGen:CA16612543	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1176A>G (p.Lys392=)	4683	NBN	Likely benign	-1	RCV002875922;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967732	90967732		-
NM_002485.5(NBN):c.1173A>G (p.Gln391=)	4683	NBN	Likely benign	780602705	RCV000165840\|RCV000912591;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967735	90967735	8:g.90967735T>C	ClinGen:CA194322	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1172A>G (p.Gln391Arg)	4683	NBN	Uncertain significance	201958895	RCV000775384\|RCV000808471;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967736	90967736	NC_000008.10:g.90967736T>C	-
NM_002485.5(NBN):c.1171C>T (p.Gln391Ter)	4683	NBN	Pathogenic	1554559323	RCV000569344\|RCV000694464\|RCV001783067;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90967737	90967737	8:g.90967737G>A	ClinGen:CA371656435	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1170A>G (p.Glu390=)	4683	NBN	Conflicting interpretations of pathogenicity	1554559326	RCV000541197\|RCV000582045\|RCV001417903;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967738	90967738	8:g.90967738T>C	ClinGen:CA462115050	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1168G>T (p.Glu390Ter)	4683	NBN	Pathogenic	2129721628	RCV001960653\|RCV003289305;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967740	90967740	90967740	-
NM_002485.5(NBN):c.1165dup (p.Met389fs)	4683	NBN	Pathogenic	2129721709	RCV001939104;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967742	90967743	90967742	-
NM_002485.5(NBN):c.1166T>C (p.Met389Thr)	4683	NBN	Uncertain significance	1810671504	RCV001863630;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967742	90967742	90967742	-
NM_002485.5(NBN):c.1163A>G (p.Lys388Arg)	4683	NBN	Uncertain significance	947104724	RCV001727457\|RCV001801008;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967745	90967745	90967745	-
NM_002485.5(NBN):c.1162A>G (p.Lys388Glu)	4683	NBN	Uncertain significance	1252203605	RCV000817973;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967746	90967746	8:g.90967746T>C	ClinGen:CA371656460	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1161C>T (p.Ser387=)	4683	NBN	Likely benign	1042756575	RCV001468322\|RCV002322517;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967747	90967747	90967747	-
NM_002485.5(NBN):c.1160C>G (p.Ser387Cys)	4683	NBN	Conflicting interpretations of pathogenicity	747632184	RCV000215651\|RCV000699656;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967748	90967748	8:g.90967748G>C	ClinGen:CA4802785	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1157T>G (p.Val386Gly)	4683	NBN	Uncertain significance	1810672909	RCV001299024;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967751	90967751	90967751	-
NM_002485.5(NBN):c.1155dup (p.Val386fs)	4683	NBN	Pathogenic	748513310	RCV000775385\|RCV001043609;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967752	90967753	8:g.90967752_90967753insT	-
NM_002485.5(NBN):c.1156G>T (p.Val386Phe)	4683	NBN	Uncertain significance	1586059509	RCV001931939;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967752	90967752	90967752	-
NM_002485.5(NBN):c.1154_1155del (p.Lys385fs)	4683	NBN	Pathogenic	748513310	RCV000636743\|RCV001554322\|RCV002343244\|RCV003471998;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909	8	90967753	90967754	8:g.90967753_90967754del	ClinGen:CA4802786	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1154A>G (p.Lys385Arg)	4683	NBN	Uncertain significance	769453547	RCV000793737\|RCV002343653;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967754	90967754	8:g.90967754T>C	-
NM_002485.5(NBN):c.1153A>G (p.Lys385Glu)	4683	NBN	Conflicting interpretations of pathogenicity	1563532612	RCV000704263\|RCV003153818;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	8	90967755	90967755	8:g.90967755T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1152C>G (p.Ile384Met)	4683	NBN	Uncertain significance	551802153	RCV000218105\|RCV001067296;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967756	90967756	8:g.90967756G>C	ClinGen:CA10578769	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1147G>A (p.Glu383Lys)	4683	NBN	Uncertain significance	772909239	RCV000528325\|RCV000573284\|RCV001584263;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90967761	90967761	8:g.90967761C>T	ClinGen:CA4802789	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1147G>C (p.Glu383Gln)	4683	NBN	Uncertain significance	772909239	RCV000573508\|RCV001341050;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967761	90967761	8:g.90967761C>G	ClinGen:CA371656492	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter)	4683	NBN	Pathogenic/Likely pathogenic	772909239	RCV001648486\|RCV001873820\|RCV003470874;	N	Human Phenotype Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90967761	90967761	90967761	-
NM_002485.5(NBN):c.1146A>C (p.Lys382Asn)	4683	NBN	Uncertain significance	1554559357	RCV000695959;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967762	90967762	NC_000008.10:g.90967762T>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1146del (p.Glu383fs)	4683	NBN	Pathogenic	1586059584	RCV001017460\|RCV001860867;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967762	90967762	8:g.90967762_90967762del	-
NM_002485.5(NBN):c.1143A>G (p.Pro381=)	4683	NBN	Likely benign	1554559361	RCV000574971\|RCV001418579;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967765	90967765	NC_000008.10:g.90967765T>C	ClinGen:CA462114807	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1142del (p.Pro381fs)	4683	NBN	Pathogenic/Likely pathogenic	587781969	RCV000007358\|RCV000130355\|RCV000220768\|RCV003467143;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90967766	90967766	8:g.90967766_90967766del	ClinGen:CA249808,OMIM:602667.0005	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1141C>A (p.Pro381Thr)	4683	NBN	Uncertain significance	2129722201	RCV001955136;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967767	90967767	90967767	-
NM_002485.5(NBN):c.1140G>A (p.Arg380=)	4683	NBN	Likely benign	762590883	RCV001488935;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967768	90967768	8:g.90967768C>T	-
NM_002485.5(NBN):c.1138A>G (p.Arg380Gly)	4683	NBN	Uncertain significance	1810674788	RCV001279847;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967770	90967770	8:g.90967770T>C	-
NM_002485.5(NBN):c.1136A>G (p.Glu379Gly)	4683	NBN	Uncertain significance	1563532732	RCV000773942\|RCV001800874;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967772	90967772	NC_000008.10:g.90967772T>C	-
NM_002485.5(NBN):c.1133G>C (p.Ser378Thr)	4683	NBN	Uncertain significance	864622123	RCV000206036\|RCV000564126;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90967775	90967775	8:g.90967775C>G	ClinGen:CA350106	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1129T>G (p.Leu377Val)	4683	NBN	Uncertain significance	587780547	RCV000119184;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967779	90967779	8:g.90967779A>C	ClinGen:CA332054	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NC_000008.11:g.89955556del	4683	NBN	Pathogenic	2129722387	RCV001951478;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967782	90967782		-
NM_002485.5(NBN):c.1125G>A (p.Trp375Ter)	4683	NBN	Pathogenic	1057519588	RCV000417077;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967783	90967783	8:g.90967783C>T	ClinGen:CA16044374	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1125-1G>A	4683	NBN	Likely pathogenic	1057517102	RCV000412152;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967784	90967784	8:g.90967784C>T	ClinGen:CA16041208	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1125-1G>C	4683	NBN	Likely pathogenic	-1	RCV002894487;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967784	90967784	NC_000008.10:g.90967784C>G	-
NM_002485.5(NBN):c.1125-3C>T	4683	NBN	Conflicting interpretations of pathogenicity	587781326	RCV000129069\|RCV000361912\|RCV001719900;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90967786	90967786	8:g.90967786G>A	ClinGen:CA163760	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1125-4A>G	4683	NBN	Conflicting interpretations of pathogenicity	1554559375	RCV000562845\|RCV001400116;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967787	90967787	8:g.90967787T>C	ClinGen:CA658657802	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1125-7dup	4683	NBN	Benign	2129722492	RCV002139674;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967789	90967790	90967789	-
NM_002485.5(NBN):c.1125-7del	4683	NBN	Benign	2129722492	RCV002214025;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967790	90967790	90967789	-
NM_002485.5(NBN):c.1125-11T>G	4683	NBN	Conflicting interpretations of pathogenicity	1373365760	RCV002202436\|RCV003234167;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90967794	90967794	90967794	-
NM_002485.5(NBN):c.1125-13T>A	4683	NBN	Likely benign	2129722556	RCV002168240;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967796	90967796	90967796	-
NM_002485.5(NBN):c.1125-15T>C	4683	NBN	Likely benign	2129722592	RCV002117017;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967798	90967798	90967798	-
NM_002485.5(NBN):c.1125-22_1125-15del	4683	NBN	Likely benign	2129722609	RCV002169901;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967798	90967805	90967797	-
NM_002485.5(NBN):c.1125-16T>G	4683	NBN	Likely benign	-1	RCV003110839;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967799	90967799	NC_000008.10:g.90967799A>C	-
NM_002485.5(NBN):c.1125-17C>G	4683	NBN	Likely benign	772466522	RCV002213750;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967800	90967800	90967800	-
NM_002485.5(NBN):c.1125-20A>G	4683	NBN	Likely benign	-1	RCV002746798;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90967803	90967803	NC_000008.10:g.90967803T>C	-
NM_002485.5(NBN):c.1124+91C>A	4683	NBN	Benign	1805818	RCV001532830\|RCV001712967;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90970862	90970862	90970862	-
NM_002485.5(NBN):c.1124+37C>G	4683	NBN	Likely benign	577575764	RCV000669068\|RCV000839486;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90970916	90970916	8:g.90970916G>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1124+20G>A	4683	NBN	Benign/Likely benign	201436502	RCV000440520\|RCV002061626;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970933	90970933	8:g.90970933C>T	ClinGen:CA4802800	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1124+20G>T	4683	NBN	Likely benign	-1	RCV002971039;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970933	90970933	NC_000008.10:g.90970933C>A	-
NM_002485.5(NBN):c.1124+19C>T	4683	NBN	Benign	13312903	RCV000679451\|RCV001515048\|RCV001712598\|RCV002225679\|RCV003316769;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:H	8	90970934	90970934	8:g.90970934G>A	ClinGen:CA4802801	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1124+18C>T	4683	NBN	Benign	2234744	RCV000180586\|RCV001510252\|RCV001610499\|RCV002225493\|RCV003316081;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:H	8	90970935	90970935	8:g.90970935G>A	ClinGen:CA203743	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1124+17_1124+18delinsTT	4683	NBN	Likely benign	2129744080	RCV002209313;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970935	90970936	90970935	-
NM_002485.5(NBN):c.1124+14A>G	4683	NBN	Likely benign	-1	RCV002695443;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970939	90970939	NC_000008.10:g.90970939T>C	-
NM_002485.5(NBN):c.1124+11_1124+13del	4683	NBN	Benign/Likely benign	747584990	RCV000604559\|RCV001357707\|RCV002061878;	N	MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970940	90970942	NC_000008.10:g.90970941AAG[1]	ClinGen:CA4802802	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1124+13C>T	4683	NBN	Likely benign	-1	RCV003028629;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970940	90970940	NC_000008.10:g.90970940G>A	-
NM_002485.5(NBN):c.1124+12T>C	4683	NBN	Likely benign	1057521099	RCV000419397\|RCV002064988;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970941	90970941	8:g.90970941A>G	ClinGen:CA16605427	CN169374 not specified;
NM_002485.5(NBN):c.1124+10C>T	4683	NBN	Likely benign	2129744144	RCV002220008;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970943	90970943	90970943	-
NC_000008.10:g.(?_90970943)_(90971092_?)dup	4683	NBN	Likely pathogenic	-1	RCV003107699;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970943	90971092		-
NM_002485.5(NBN):c.1124+9T>G	4683	NBN	Likely benign	864622466	RCV000204394\|RCV000600872;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90970944	90970944	NC_000008.10:g.90970944A>C	ClinGen:CA348627	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1124+8T>G	4683	NBN	Likely benign	-1	RCV002824149;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970945	90970945	NC_000008.10:g.90970945A>C	-
NM_002485.5(NBN):c.1124+7C>T	4683	NBN	Likely benign	1060504929	RCV000461961;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970946	90970946	NC_000008.10:g.90970946G>A	ClinGen:CA16612544	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1124+6G>T	4683	NBN	Conflicting interpretations of pathogenicity	375862750	RCV000127086\|RCV000199990\|RCV000587851\|RCV000581770\|RCV001354937;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142	8	90970947	90970947	8:g.90970947C>A	ClinGen:CA292413	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1124+6G>A	4683	NBN	Uncertain significance	375862750	RCV001327187;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970947	90970947	90970947	-
NM_002485.5(NBN):c.1124+5A>T	4683	NBN	Conflicting interpretations of pathogenicity	587782108	RCV000130624\|RCV000608438\|RCV000672993;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970948	90970948	8:g.90970948T>A	ClinGen:CA166777	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1124+4A>T	4683	NBN	Uncertain significance	-1	RCV002435507\|RCV003102955;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970949	90970949	90970949	-
NM_002485.5(NBN):c.1124+2T>G	4683	NBN	Likely pathogenic	1554560352	RCV000636717;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970951	90970951	NC_000008.10:g.90970951A>C	ClinGen:CA371656551	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1124+1G>A	4683	NBN	Likely pathogenic	1057517209	RCV000410092;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970952	90970952	8:g.90970952C>T	ClinGen:CA16041209	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1124+1G>C	4683	NBN	Likely pathogenic	1057517209	RCV000569288\|RCV001853723;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970952	90970952	8:g.90970952C>G	ClinGen:CA371656555	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1124G>A (p.Trp375Ter)	4683	NBN	Pathogenic	1394437421	RCV000564232\|RCV001858316;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970953	90970953	8:g.90970953C>T	ClinGen:CA371656558	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1124G>C (p.Trp375Ser)	4683	NBN	Uncertain significance	1394437421	RCV000700128;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970953	90970953	NC_000008.10:g.90970953C>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1122A>G (p.Thr374=)	4683	NBN	Likely benign	876660925	RCV000214358\|RCV000552178\|RCV001697197;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90970955	90970955	8:g.90970955T>C	ClinGen:CA10578770	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1121C>T (p.Thr374Ile)	4683	NBN	Uncertain significance	1174990974	RCV000573000\|RCV000636726\|RCV001560376\|RCV003476319;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90970956	90970956	8:g.90970956G>A	ClinGen:CA371656563	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1120A>G (p.Thr374Ala)	4683	NBN	Uncertain significance	1563538477	RCV000696006\|RCV002440480;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90970957	90970957	NC_000008.10:g.90970957T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1118A>G (p.Asp373Gly)	4683	NBN	Uncertain significance	1563538492	RCV000696308;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970959	90970959	8:g.90970959T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1116A>G (p.Ala372=)	4683	NBN	Likely benign	1810848142	RCV001423589\|RCV002255663;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90970961	90970961	90970961	-
NM_002485.5(NBN):c.1115C>T (p.Ala372Val)	4683	NBN	Uncertain significance	587781438	RCV001971900;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970962	90970962	90970962	-
NM_002485.5(NBN):c.1114G>A (p.Ala372Thr)	4683	NBN	Uncertain significance	1377878017	RCV001191157\|RCV001209151;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970963	90970963	8:g.90970963C>T	-
NM_002485.5(NBN):c.1113A>G (p.Gln371=)	4683	NBN	Likely benign	-1	RCV002439414\|RCV003102182;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970964	90970964		-
NM_002485.5(NBN):c.1110G>A (p.Glu370=)	4683	NBN	Likely benign	1586065611	RCV001403760\|RCV002427350;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90970967	90970967	8:g.90970967C>T	-
NM_002485.5(NBN):c.1104_1109del (p.Ser369_Glu370del)	4683	NBN	Uncertain significance	1425019959	RCV000668774;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970968	90970973	8:g.90970968_90970973del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1107dup (p.Glu370fs)	4683	NBN	Pathogenic	2129744712	RCV002007159;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970969	90970970	90970969	-
NM_002485.5(NBN):c.1108G>A (p.Glu370Lys)	4683	NBN	Uncertain significance	-1	RCV002825141;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970969	90970969	NC_000008.10:g.90970969C>T	-
NM_002485.5(NBN):c.1107A>G (p.Ser369=)	4683	NBN	Likely benign	1586065630	RCV000841659\|RCV002068598\|RCV002427087;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90970970	90970970	8:g.90970970T>C	-
NM_002485.5(NBN):c.1107A>C (p.Ser369=)	4683	NBN	Likely benign	1586065630	RCV001437046;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970970	90970970	90970970	-
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)	4683	NBN	Pathogenic/Likely pathogenic	2129744741	RCV001386835\|RCV002476731\|RCV003469725;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88; Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Ph	8	90970971	90970971	90970971	-
NM_002485.5(NBN):c.1105T>C (p.Ser369Pro)	4683	NBN	Uncertain significance	2129744768	RCV002027847;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970972	90970972	90970972	-
NM_002485.5(NBN):c.1102G>C (p.Glu368Gln)	4683	NBN	Uncertain significance	2129744825	RCV002015773;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970975	90970975	90970975	-
NM_002485.5(NBN):c.1100C>G (p.Thr367Arg)	4683	NBN	Uncertain significance	1586065643	RCV000809117;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970977	90970977	8:g.90970977G>C	-
NM_002485.5(NBN):c.1097A>G (p.Asp366Gly)	4683	NBN	Uncertain significance	2129744939	RCV002025884;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970980	90970980	90970980	-
NM_002485.5(NBN):c.1095T>C (p.Ala365=)	4683	NBN	Likely benign	1554560368	RCV000608235\|RCV001017269\|RCV001478909;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970982	90970982	8:g.90970982A>G	ClinGen:CA461828173	CN169374 not specified;
NM_002485.5(NBN):c.1092A>G (p.Val364=)	4683	NBN	Likely benign	-1	RCV002815240;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970985	90970985		-
NM_002485.5(NBN):c.1091T>C (p.Val364Ala)	4683	NBN	Uncertain significance	370229163	RCV000115777\|RCV000217684\|RCV000700024\|RCV001818277;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90970986	90970986	8:g.90970986A>G	ClinGen:CA287898	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1090G>A (p.Val364Ile)	4683	NBN	Uncertain significance	765403660	RCV000775386\|RCV001373068;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970987	90970987	NC_000008.10:g.90970987C>T	-
NM_002485.5(NBN):c.1090G>T (p.Val364Leu)	4683	NBN	Uncertain significance	765403660	RCV001926977;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970987	90970987	90970987	-
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)	4683	NBN	Pathogenic	121908974	RCV000007362\|RCV003329227\|RCV003472997;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90970988	90970988	8:g.90970988G>T	ClinGen:CA254010,OMIM:602667.0008	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)	4683	NBN	Conflicting interpretations of pathogenicity	121908974	RCV000160770\|RCV000212742\|RCV000724700\|RCV001079308;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970988	90970988	NC_000008.10:g.90970988G>A	ClinGen:CA248080	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1089C>G (p.Tyr363Ter)	4683	NBN	Pathogenic	121908974	RCV001009876\|RCV001800916;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970988	90970988	8:g.90970988G>C	-
NM_002485.5(NBN):c.1086A>C (p.Thr362=)	4683	NBN	Likely benign	876659734	RCV002529268;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970991	90970991	8:g.90970991T>G	ClinGen:CA461828219	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1084A>G (p.Thr362Ala)	4683	NBN	Uncertain significance	1810850707	RCV001058136;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970993	90970993	8:g.90970993T>C	-
NM_002485.5(NBN):c.1083A>G (p.Thr361=)	4683	NBN	Likely benign	761042468	RCV000575851\|RCV000600187\|RCV000636802\|RCV001284024;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90970994	90970994	8:g.90970994T>C	ClinGen:CA4802807	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1082C>T (p.Thr361Ile)	4683	NBN	Uncertain significance	2129745254	RCV001371983;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970995	90970995	90970995	-
NM_002485.5(NBN):c.1081A>G (p.Thr361Ala)	4683	NBN	Uncertain significance	1563538728	RCV000686541\|RCV000708721\|RCV002249405;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90970996	90970996	8:g.90970996T>C	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1079C>G (p.Thr360Ser)	4683	NBN	Uncertain significance	879020505	RCV001179042\|RCV001751315\|RCV001800956;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970998	90970998	8:g.90970998G>C	-
NM_002485.5(NBN):c.1078A>C (p.Thr360Pro)	4683	NBN	Uncertain significance	1307700838	RCV001009860\|RCV001210589;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90970999	90970999	8:g.90970999T>G	-
NM_002485.5(NBN):c.1078A>G (p.Thr360Ala)	4683	NBN	Uncertain significance	1307700838	RCV001366863\|RCV002420809;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90970999	90970999	90970999	-
NM_002485.5(NBN):c.1077C>T (p.Asn359=)	4683	NBN	Likely benign	2129745426	RCV001476546;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971000	90971000	90971000	-
NM_002485.5(NBN):c.1076A>G (p.Asn359Ser)	4683	NBN	Uncertain significance	768886664	RCV000583638\|RCV000796652\|RCV001764710;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90971001	90971001	8:g.90971001T>C	ClinGen:CA4802808	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1073T>G (p.Val358Gly)	4683	NBN	Uncertain significance	1563538793	RCV000776898\|RCV001043820\|RCV002222634;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90971004	90971004	NC_000008.10:g.90971004A>C	-
NM_002485.5(NBN):c.1071dup (p.Val358fs)	4683	NBN	Pathogenic	2129745554	RCV001648487\|RCV001882742;	N	Human Phenotype Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971005	90971006	90971005	-
NM_002485.5(NBN):c.1072del (p.Pro357_Val358insTer)	4683	NBN	Pathogenic	2129745511	RCV002007172;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971005	90971005	90971004	-
NM_002485.5(NBN):c.1071A>G (p.Pro357=)	4683	NBN	Likely benign	1810852191	RCV002172169;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971006	90971006	90971006	-
NM_002485.5(NBN):c.1066G>A (p.Ala356Thr)	4683	NBN	Uncertain significance	777259845	RCV000215331\|RCV000539852\|RCV000759885\|RCV000780526;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374	8	90971011	90971011	8:g.90971011C>T	ClinGen:CA4802809	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1066G>T (p.Ala356Ser)	4683	NBN	Uncertain significance	-1	RCV002303969;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971011	90971011	90971011	-
NM_002485.5(NBN):c.1065C>T (p.Ser355=)	4683	NBN	Likely benign	876659205	RCV000218724\|RCV000457869\|RCV000588266;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90971012	90971012	8:g.90971012G>A	ClinGen:CA10578773	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1065C>A (p.Ser355Arg)	4683	NBN	Uncertain significance	-1	RCV002672188;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971012	90971012	NC_000008.10:g.90971012G>T	-
NM_002485.5(NBN):c.1064G>A (p.Ser355Asn)	4683	NBN	Uncertain significance	-1	RCV003031590;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971013	90971013	NC_000008.10:g.90971013C>T	-
NM_002485.5(NBN):c.1063A>G (p.Ser355Gly)	4683	NBN	Uncertain significance	762376159	RCV000484152\|RCV000527248\|RCV001009794;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90971014	90971014	8:g.90971014T>C	ClinGen:CA4802810	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1063A>T (p.Ser355Cys)	4683	NBN	Uncertain significance	762376159	RCV001188076\|RCV001326911;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971014	90971014	8:g.90971014T>A	-
NM_002485.5(NBN):c.1061C>T (p.Pro354Leu)	4683	NBN	Uncertain significance	1354459986	RCV000566751\|RCV001788291\|RCV001800779;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971016	90971016	NC_000008.10:g.90971016G>A	ClinGen:CA371656688	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1060C>T (p.Pro354Ser)	4683	NBN	Uncertain significance	1064794336	RCV000479772\|RCV000550823\|RCV002481512;	N	MedGen:CN517202\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88; Hum	8	90971017	90971017	8:g.90971017G>A	ClinGen:CA16618701	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1060C>G (p.Pro354Ala)	4683	NBN	Uncertain significance	1064794336	RCV000776899\|RCV001069235;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971017	90971017	NC_000008.10:g.90971017G>C	-
NM_002485.5(NBN):c.1058T>C (p.Met353Thr)	4683	NBN	Uncertain significance	1028462350	RCV000562581\|RCV001829602;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971019	90971019	8:g.90971019A>G	ClinGen:CA181263712	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1057A>C (p.Met353Leu)	4683	NBN	Uncertain significance	864622489	RCV000206611;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971020	90971020	8:g.90971020T>G	ClinGen:CA350623	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1057A>G (p.Met353Val)	4683	NBN	Uncertain significance	864622489	RCV002005703\|RCV003348716;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90971020	90971020	90971020	-
NM_002485.5(NBN):c.1056A>G (p.Leu352=)	4683	NBN	Likely benign	369092711	RCV000217297\|RCV000585958\|RCV000855560\|RCV001086458;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971021	90971021	8:g.90971021T>C	ClinGen:CA4802812	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1054C>T (p.Leu352=)	4683	NBN	Likely benign	1586065915	RCV001493988;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971023	90971023	8:g.90971023G>A	-
NM_002485.5(NBN):c.1053A>G (p.Lys351=)	4683	NBN	Likely benign	1810854037	RCV002173646;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971024	90971024	90971024	-
NM_002485.5(NBN):c.1046A>T (p.Asp349Val)	4683	NBN	Uncertain significance	876659431	RCV000216015\|RCV001035544;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971031	90971031	8:g.90971031T>A	ClinGen:CA10578775	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1044del (p.Asp349fs)	4683	NBN	Pathogenic	-1	RCV002824531;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971033	90971033	NC_000008.10:g.90971034del	-
NM_002485.5(NBN):c.1043T>C (p.Val348Ala)	4683	NBN	Uncertain significance	876660929	RCV000221225\|RCV001229616\|RCV002262811;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90971034	90971034	8:g.90971034A>G	ClinGen:CA10578776	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1042G>A (p.Val348Ile)	4683	NBN	Uncertain significance	1586065979	RCV001009784\|RCV001041103;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971035	90971035	8:g.90971035C>T	-
NM_002485.5(NBN):c.1042G>C (p.Val348Leu)	4683	NBN	Uncertain significance	-1	RCV003008079;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971035	90971035	NC_000008.10:g.90971035C>G	-
NM_002485.5(NBN):c.1041A>C (p.Ser347=)	4683	NBN	Likely benign	1586065991	RCV001009775\|RCV001461102;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971036	90971036	8:g.90971036T>G	-
NM_002485.5(NBN):c.1038_1039dup (p.Ser347fs)	4683	NBN	Pathogenic	1554560432	RCV000467574;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971037	90971038	NC_000008.10:g.90971038AC[3]	ClinGen:CA16612493	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1039T>C (p.Ser347Pro)	4683	NBN	Uncertain significance	1563539035	RCV000705012;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971038	90971038	NC_000008.10:g.90971038A>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1037T>C (p.Val346Ala)	4683	NBN	Uncertain significance	2129746243	RCV001954313;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971040	90971040	90971040	-
NM_002485.5(NBN):c.1036G>A (p.Val346Met)	4683	NBN	Conflicting interpretations of pathogenicity	200297914	RCV000115776\|RCV000212741\|RCV000589164\|RCV001082179\|RCV001255161\|RCV001293998\|RCV001355371;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807, Orphanet:13	8	90971041	90971041	8:g.90971041C>T	ClinGen:CA287895	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1035C>T (p.Gly345=)	4683	NBN	Conflicting interpretations of pathogenicity	146605798	RCV000115775\|RCV000587475\|RCV001081028\|RCV001818276;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90971042	90971042	8:g.90971042G>A	ClinGen:CA287892	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1035C>A (p.Gly345=)	4683	NBN	Likely benign	146605798	RCV000234576\|RCV002392694;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90971042	90971042	8:g.90971042G>T	ClinGen:CA10582599	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1034G>T (p.Gly345Val)	4683	NBN	Uncertain significance	587780089	RCV000115774\|RCV000212740\|RCV000476299\|RCV000764783;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00	8	90971043	90971043	8:g.90971043C>A	ClinGen:CA287889	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1034G>A (p.Gly345Asp)	4683	NBN	Uncertain significance	587780089	RCV001215264;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971043	90971043	8:g.90971043C>T	-
NM_002485.5(NBN):c.1034G>C (p.Gly345Ala)	4683	NBN	Uncertain significance	587780089	RCV001981168;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971043	90971043	90971043	-
NM_002485.5(NBN):c.1032A>G (p.Gln344=)	4683	NBN	Likely benign	1159161073	RCV001009733\|RCV002550754;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971045	90971045	8:g.90971045T>C	-
NM_002485.5(NBN):c.1031A>G (p.Gln344Arg)	4683	NBN	Uncertain significance	2129746440	RCV001997786;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971046	90971046	90971046	-
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)	4683	NBN	Pathogenic/Likely pathogenic	767215758	RCV000170448\|RCV000220210\|RCV000446931\|RCV000763607\|RCV003474919;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00	8	90971047	90971047	NC_000008.10:g.90971047G>A	ClinGen:CA274767,ClinVar:424713	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1028C>T (p.Ser343Leu)	4683	NBN	Uncertain significance	1810856747	RCV001227540;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971049	90971049	8:g.90971049G>A	-
NM_002485.5(NBN):c.1028C>G (p.Ser343Ter)	4683	NBN	Pathogenic	1810856747	RCV002002429\|RCV002386816;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90971049	90971049	90971049	-
NM_002485.5(NBN):c.1027T>C (p.Ser343Pro)	4683	NBN	Uncertain significance	530636519	RCV000570503\|RCV001858196;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971050	90971050	8:g.90971050A>G	ClinGen:CA4802814	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1025T>G (p.Leu342Arg)	4683	NBN	Uncertain significance	1810857038	RCV001978526;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971052	90971052	90971052	-
NM_002485.5(NBN):c.1024C>T (p.Leu342Phe)	4683	NBN	Uncertain significance	587782656	RCV000132071\|RCV001228079;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971053	90971053	8:g.90971053G>A	ClinGen:CA169196	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg)	4683	NBN	Conflicting interpretations of pathogenicity	756023239	RCV000230649\|RCV000446226\|RCV001770195\|RCV001818596\|RCV003469157;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90971054	90971054	NC_000008.10:g.90971054G>C	ClinGen:CA4802815	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1022G>A (p.Ser341Asn)	4683	NBN	Uncertain significance	-1	RCV003017958\|RCV003308416;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90971055	90971055	NC_000008.10:g.90971055C>T	-
NM_002485.5(NBN):c.1020A>G (p.Pro340=)	4683	NBN	Likely benign	864622077	RCV000204268\|RCV000572279\|RCV000602747;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90971057	90971057	8:g.90971057T>C	ClinGen:CA348512	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1018C>T (p.Pro340Ser)	4683	NBN	Uncertain significance	1586066127	RCV001369510;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971059	90971059	90971059	-
NM_002485.5(NBN):c.1018C>G (p.Pro340Ala)	4683	NBN	Uncertain significance	1586066127	RCV001910765;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971059	90971059	90971059	-
NM_002485.5(NBN):c.1017A>C (p.Gly339=)	4683	NBN	Likely benign	2129746806	RCV001464107;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971060	90971060	90971060	-
NM_002485.5(NBN):c.1013C>T (p.Pro338Leu)	4683	NBN	Uncertain significance	2129746873	RCV001988952;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971064	90971064	90971064	-
NM_002485.5(NBN):c.1012C>T (p.Pro338Ser)	4683	NBN	Uncertain significance	1554560467	RCV000534490\|RCV000574017\|RCV001264446;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90971065	90971065	NC_000008.10:g.90971065G>A	ClinGen:CA371656787	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1012C>A (p.Pro338Thr)	4683	NBN	Uncertain significance	1554560467	RCV001034829\|RCV003346256;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90971065	90971065	8:g.90971065G>T	-
NM_002485.5(NBN):c.1005AAC[3] (p.Thr337dup)	4683	NBN	Uncertain significance	770500095	RCV000166078\|RCV000465315\|RCV000483396;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90971066	90971067	8:g.90971066_90971067insGTT	ClinGen:CA194936	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1011T>C (p.Thr337=)	4683	NBN	Likely benign	-1	RCV003028759;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971066	90971066		-
NM_002485.5(NBN):c.1005AAC[1] (p.Thr337del)	4683	NBN	Uncertain significance	770500095	RCV000636749\|RCV000759884\|RCV000771590\|RCV003403462;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	8	90971067	90971069	8:g.90971067_90971069del	ClinGen:CA4802816	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.1010C>T (p.Thr337Ile)	4683	NBN	Uncertain significance	1335655343	RCV000773596\|RCV000806130;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971067	90971067	NC_000008.10:g.90971067G>A	-
NM_002485.5(NBN):c.1009A>G (p.Thr337Ala)	4683	NBN	Uncertain significance	1554560492	RCV000586602\|RCV001304203\|RCV002438527;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90971068	90971068	NC_000008.10:g.90971068T>C	ClinGen:CA371656794	CN517202 not provided;
NM_002485.5(NBN):c.1008A>T (p.Thr336=)	4683	NBN	Likely benign	786201619	RCV000163982\|RCV000200113\|RCV000442818\|RCV001812142;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MedGen:C3661900	8	90971069	90971069	8:g.90971069T>A	ClinGen:CA189702	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1008A>C (p.Thr336=)	4683	NBN	Likely benign	-1	RCV003055571;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971069	90971069		-
NM_002485.5(NBN):c.1007C>T (p.Thr336Ile)	4683	NBN	Uncertain significance	876660218	RCV000220662\|RCV002515698;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971070	90971070	8:g.90971070G>A	ClinGen:CA10578778	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.1006A>G (p.Thr336Ala)	4683	NBN	Uncertain significance	1554560506	RCV000582203\|RCV001056610;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971071	90971071	8:g.90971071T>C	ClinGen:CA371656799	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.995-23_998inv	4683	NBN	Likely pathogenic	-1	RCV002027045\|RCV002463104\|RCV003475295;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90971079	90971105	90971079	-
NM_002485.5(NBN):c.996A>G (p.Gly332=)	4683	NBN	Likely benign	2129747152	RCV001399426;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971081	90971081	90971081	-
NM_002485.5(NBN):c.995G>A (p.Gly332Glu)	4683	NBN	Likely pathogenic	2129747182	RCV001377833;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971082	90971082	90971082	-
NM_002485.5(NBN):c.995-1G>C	4683	NBN	Likely pathogenic	1554560523	RCV000554271;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971083	90971083	NC_000008.10:g.90971083C>G	ClinGen:CA371656826	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.995-1G>T	4683	NBN	Likely pathogenic	1554560523	RCV001214272;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971083	90971083	8:g.90971083C>A	-
NM_002485.5(NBN):c.995-2A>G	4683	NBN	Pathogenic/Likely pathogenic	876659521	RCV000231563\|RCV000223218\|RCV000481197\|RCV003475021\|RCV003407753;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90971084	90971084	8:g.90971084T>C	ClinGen:CA10578779	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.995-2A>C	4683	NBN	Likely pathogenic	876659521	RCV000669315;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971084	90971084	8:g.90971084T>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.995-3C>T	4683	NBN	Uncertain significance	-1	RCV002382933\|RCV003094907;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971085	90971085	90971085	-
NM_002485.5(NBN):c.995-4A>G	4683	NBN	Likely benign	2129747280	RCV002113593;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971086	90971086	90971086	-
NM_002485.5(NBN):c.995-5T>C	4683	NBN	Likely benign	2129747292	RCV001481456;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971087	90971087	90971087	-
NM_002485.5(NBN):c.995-6T>A	4683	NBN	Uncertain significance	1810859804	RCV001318546;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971088	90971088	90971088	-
NM_002485.5(NBN):c.995-6T>G	4683	NBN	Likely benign	-1	RCV003074432;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971088	90971088	NC_000008.10:g.90971088A>C	-
NM_002485.5(NBN):c.995-8A>C	4683	NBN	Likely benign	2129747346	RCV002156455;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971090	90971090	90971090	-
NM_002485.5(NBN):c.995-9G>A	4683	NBN	Likely benign	1586066252	RCV001438148;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971091	90971091	8:g.90971091C>T	-
NM_002485.5(NBN):c.995-12T>C	4683	NBN	Likely benign	1057521081	RCV001712223\|RCV002525330;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971094	90971094	8:g.90971094A>G	ClinGen:CA16605513	CN169374 not specified;
NM_002485.5(NBN):c.995-13G>A	4683	NBN	Likely benign	1329972460	RCV002061891;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971095	90971095	NC_000008.10:g.90971095C>T	ClinGen:CA583372741	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.995-13G>C	4683	NBN	Likely benign	1329972460	RCV002074203;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971095	90971095	90971095	-
NM_002485.5(NBN):c.995-15T>G	4683	NBN	Uncertain significance	1563539377	RCV001937964;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971097	90971097	90971097	-
NM_002485.5(NBN):c.995-16C>T	4683	NBN	Likely benign	777288661	RCV002069197;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971098	90971098	8:g.90971098G>A	-
NM_002485.5(NBN):c.995-17A>G	4683	NBN	Benign/Likely benign	372875251	RCV000436340\|RCV002061443\|RCV002488884\|RCV003316525;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88; MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Hum	8	90971099	90971099	8:g.90971099T>C	ClinGen:CA4802819	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.995-18T>G	4683	NBN	Likely benign	1165001297	RCV002145974;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971100	90971100	90971100	-
NM_002485.5(NBN):c.995-29TTCT[2]	4683	NBN	Likely benign	-1	RCV003063174;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971100	90971103	NC_000008.10:g.90971100AGAA[2]	-
NM_002485.5(NBN):c.995-19C>A	4683	NBN	Likely benign	2129747549	RCV002097027;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971101	90971101	90971101	-
NM_002485.5(NBN):c.995-20T>C	4683	NBN	Likely benign	1810861105	RCV002075462;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90971102	90971102	90971102	-
NM_002485.5(NBN):c.994+233G>A	4683	NBN	Benign	6990969	RCV001532831\|RCV001655816;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90976405	90976405	90976405	-
NM_002485.5(NBN):c.994+20A>G	4683	NBN	Benign/Likely benign	756077531	RCV001712600\|RCV002061890;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976618	90976618	NC_000008.10:g.90976618T>C	ClinGen:CA4802836	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.994+16T>C	4683	NBN	Likely benign	-1	RCV002876802;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976622	90976622	NC_000008.10:g.90976622A>G	-
NM_002485.5(NBN):c.994+15A>G	4683	NBN	Likely benign	1282981376	RCV002061889;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976623	90976623	NC_000008.10:g.90976623T>C	ClinGen:CA583373654	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.994+14T>C	4683	NBN	Likely benign	-1	RCV002875967;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976624	90976624	NC_000008.10:g.90976624A>G	-
NM_002485.5(NBN):c.994+11C>T	4683	NBN	Likely benign	377076593	RCV002061100;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976627	90976627	NC_000008.10:g.90976627G>A	-
NM_002485.5(NBN):c.994+10G>A	4683	NBN	Likely benign	753761865	RCV000542625;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976628	90976628	8:g.90976628C>T	ClinGen:CA4802838	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.994+9A>G	4683	NBN	Likely benign	559438888	RCV000937972;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976629	90976629	NC_000008.10:g.90976629T>C	ClinGen:CA4802839	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.994+8A>T	4683	NBN	Likely benign	2129785103	RCV002085781;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976630	90976630	90976630	-
NM_002485.5(NBN):c.994+7G>T	4683	NBN	Likely benign	2129785123	RCV001484989;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976631	90976631	90976631	-
NM_002485.5(NBN):c.994+6T>C	4683	NBN	Uncertain significance	1811141291	RCV001344471;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976632	90976632	90976632	-
NM_002485.5(NBN):c.994+5T>C	4683	NBN	Uncertain significance	778254433	RCV000546426\|RCV000574546;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976633	90976633	8:g.90976633A>G	ClinGen:CA4802840	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.994+5T>A	4683	NBN	Uncertain significance	778254433	RCV001902947;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976633	90976633	90976633	-
NM_002485.5(NBN):c.992_994+3del	4683	NBN	Pathogenic	1563548315	RCV000705673;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976635	90976640	8:g.90976635_90976640del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.994+2T>C	4683	NBN	Likely pathogenic	1586075690	RCV002026037\|RCV002386888;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976636	90976636	90976636	-
NM_002485.5(NBN):c.994+1G>T	4683	NBN	Likely pathogenic	1554562083	RCV000553121\|RCV000755042\|RCV003328595\|RCV003459221;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90976637	90976637	NC_000008.10:g.90976637C>A	ClinGen:CA371656834	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.994G>A (p.Gly332Arg)	4683	NBN	Conflicting interpretations of pathogenicity	1437392838	RCV002019619\|RCV003348737;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976638	90976638	90976638	-
NM_002485.5(NBN):c.993A>G (p.Thr331=)	4683	NBN	Uncertain significance	876659523	RCV000220138\|RCV000636711;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976639	90976639	8:g.90976639T>C	ClinGen:CA10578780	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.992C>G (p.Thr331Arg)	4683	NBN	Uncertain significance	587782905	RCV000132550\|RCV001371455;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976640	90976640	8:g.90976640G>C	ClinGen:CA170056	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.992C>T (p.Thr331Ile)	4683	NBN	Uncertain significance	587782905	RCV001904344;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976640	90976640	90976640	-
NM_002485.5(NBN):c.990T>C (p.Ser330=)	4683	NBN	Likely benign	1482013266	RCV000636807\|RCV002386024;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976642	90976642	NC_000008.10:g.90976642A>G	ClinGen:CA461830708	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.989G>A (p.Ser330Asn)	4683	NBN	Uncertain significance	1811142330	RCV001347087\|RCV002384482;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976643	90976643	90976643	-
NM_002485.5(NBN):c.988A>G (p.Ser330Gly)	4683	NBN	Uncertain significance	1554562092	RCV000525614;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976644	90976644	NC_000008.10:g.90976644T>C	ClinGen:CA371656849	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.987C>T (p.Pro329=)	4683	NBN	Likely benign	1586075751	RCV001498898;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976645	90976645	8:g.90976645G>A	-
NM_002485.5(NBN):c.987C>G (p.Pro329=)	4683	NBN	Likely benign	-1	RCV002833165;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976645	90976645		-
NM_002485.5(NBN):c.986C>T (p.Pro329Leu)	4683	NBN	Uncertain significance	1386471248	RCV000561487\|RCV001038610;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976646	90976646	NC_000008.10:g.90976646G>A	ClinGen:CA371656852	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.986C>A (p.Pro329His)	4683	NBN	Uncertain significance	1386471248	RCV001052277;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976646	90976646	8:g.90976646G>T	-
NM_002485.5(NBN):c.983A>G (p.His328Arg)	4683	NBN	Uncertain significance	1554562099	RCV000636754\|RCV000776635;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976649	90976649	NC_000008.10:g.90976649T>C	ClinGen:CA371656861	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.983A>T (p.His328Leu)	4683	NBN	Uncertain significance	1554562099	RCV001978498;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976649	90976649	90976649	-
NM_002485.5(NBN):c.980G>T (p.Gly327Val)	4683	NBN	Uncertain significance	1586075779	RCV000793085;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976652	90976652	8:g.90976652C>A	-
NM_002485.5(NBN):c.979_980del (p.Gly327fs)	4683	NBN	Pathogenic	-1	RCV003025362;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976652	90976653	NC_000008.10:g.90976653_90976654del	-
NM_002485.5(NBN):c.978G>A (p.Gln326=)	4683	NBN	Likely benign	-1	RCV003026057;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976654	90976654		-
NM_002485.5(NBN):c.977A>G (p.Gln326Arg)	4683	NBN	Conflicting interpretations of pathogenicity	876659586	RCV000217834\|RCV001853581;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976655	90976655	8:g.90976655T>C	ClinGen:CA10578781	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.976C>T (p.Gln326Ter)	4683	NBN	Pathogenic	121908973	RCV000007359\|RCV000166946;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976656	90976656	8:g.90976656G>A	ClinGen:CA197104,OMIM:602667.0006	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.976C>G (p.Gln326Glu)	4683	NBN	Uncertain significance	121908973	RCV000688246\|RCV001176635\|RCV001280672\|RCV002485614\|RCV003128640;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MON	8	90976656	90976656	8:g.90976656G>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.975T>G (p.Pro325=)	4683	NBN	Likely benign	2129785634	RCV001455235;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976657	90976657	90976657	-
NM_002485.5(NBN):c.974del (p.Pro325fs)	4683	NBN	Pathogenic/Likely pathogenic	1554562110	RCV000657467\|RCV001390697\|RCV003472056;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90976658	90976658	NC_000008.10:g.90976659del	-	CN517202 not provided;
NM_002485.5(NBN):c.974C>T (p.Pro325Leu)	4683	NBN	Uncertain significance	1586075820	RCV001019699\|RCV001325038;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976658	90976658	8:g.90976658G>A	-
NM_002485.5(NBN):c.973C>T (p.Pro325Ser)	4683	NBN	Uncertain significance	2129785733	RCV002012770\|RCV003303594;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976659	90976659	90976659	-
NM_002485.5(NBN):c.969T>C (p.Cys323=)	4683	NBN	Likely benign	773860553	RCV000214170\|RCV001391768;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976663	90976663	8:g.90976663A>G	ClinGen:CA10578782	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.968G>A (p.Cys323Tyr)	4683	NBN	Uncertain significance	730881848	RCV000160785\|RCV000766497\|RCV001054949\|RCV001019625;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976664	90976664	NC_000008.10:g.90976664C>T	ClinGen:CA299608	CN169374 not specified;
NM_002485.5(NBN):c.966_967del (p.Tyr322_Cys323delinsTer)	4683	NBN	Pathogenic/Likely pathogenic	1811144443	RCV001218260\|RCV003462739;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90976665	90976666	8:g.90976665_90976666del	-
NM_002485.5(NBN):c.966C>T (p.Tyr322=)	4683	NBN	Likely benign	748453607	RCV000163106\|RCV000204762\|RCV000429218;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90976666	90976666	8:g.90976666G>A	ClinGen:CA187456	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.966C>G (p.Tyr322Ter)	4683	NBN	Pathogenic	748453607	RCV000804176\|RCV001564018;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222	8	90976666	90976666	8:g.90976666G>C	-
NM_002485.5(NBN):c.966C>A (p.Tyr322Ter)	4683	NBN	Pathogenic	748453607	RCV001994742\|RCV003475215;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90976666	90976666	90976666	-
NM_002485.5(NBN):c.964T>G (p.Tyr322Asp)	4683	NBN	Uncertain significance	1554562123	RCV000636768;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976668	90976668	NC_000008.10:g.90976668A>C	ClinGen:CA371656928	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.962dup (p.Asn321fs)	4683	NBN	Likely pathogenic	-1	RCV002306534;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976669	90976670	90976669	-
NM_002485.5(NBN):c.962del (p.Asn321fs)	4683	NBN	Likely pathogenic	1586075907	RCV001004532\|RCV003467574;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90976670	90976670	8:g.90976670_90976670del	-
NM_002485.5(NBN):c.960G>A (p.Lys320=)	4683	NBN	Likely benign	1554562125	RCV000541417;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976672	90976672	8:g.90976672C>T	ClinGen:CA461830723	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.960G>T (p.Lys320Asn)	4683	NBN	Uncertain significance	1554562125	RCV001019574\|RCV001048929;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976672	90976672	8:g.90976672C>A	-
NM_002485.5(NBN):c.958A>G (p.Lys320Glu)	4683	NBN	Conflicting interpretations of pathogenicity	1563548624	RCV000773117\|RCV001800872\|RCV002249473;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90976674	90976674	NC_000008.10:g.90976674T>C	-
NM_002485.5(NBN):c.957A>G (p.Thr319=)	4683	NBN	Likely benign	1586075933	RCV002215182;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976675	90976675	90976675	-
NM_002485.5(NBN):c.956C>T (p.Thr319Ile)	4683	NBN	Uncertain significance	-1	RCV003045956;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976676	90976676	NC_000008.10:g.90976676G>A	-
NM_002485.5(NBN):c.955A>G (p.Thr319Ala)	4683	NBN	Uncertain significance	876659969	RCV000213401\|RCV000213476\|RCV000685781;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976677	90976677	8:g.90976677T>C	ClinGen:CA10577367	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.954T>A (p.Thr318=)	4683	NBN	Likely benign	1554562137	RCV000572721\|RCV001447864;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976678	90976678	8:g.90976678A>T	ClinGen:CA461830729	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.954T>C (p.Thr318=)	4683	NBN	Likely benign	1554562137	RCV000562302\|RCV002060400;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976678	90976678	8:g.90976678A>G	ClinGen:CA461830728	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.953C>T (p.Thr318Ile)	4683	NBN	Uncertain significance	1811146292	RCV001181020\|RCV001365455;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976679	90976679	8:g.90976679G>A	-
NM_002485.5(NBN):c.952A>T (p.Thr318Ser)	4683	NBN	Uncertain significance	1811146499	RCV001048315\|RCV002372803;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976680	90976680	8:g.90976680T>A	-
NM_002485.5(NBN):c.951G>A (p.Met317Ile)	4683	NBN	Uncertain significance	1586075972	RCV001019444\|RCV001827198;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976681	90976681	8:g.90976681C>T	-
NM_002485.5(NBN):c.950T>C (p.Met317Thr)	4683	NBN	Uncertain significance	1586075983	RCV001019435\|RCV001221194;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976682	90976682	8:g.90976682A>G	-
NM_002485.5(NBN):c.949A>G (p.Met317Val)	4683	NBN	Conflicting interpretations of pathogenicity	587782502	RCV000131642\|RCV000477065\|RCV000485286;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90976683	90976683	8:g.90976683T>C	ClinGen:CA168521	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.949A>T (p.Met317Leu)	4683	NBN	Uncertain significance	587782502	RCV000819960;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976683	90976683	NC_000008.10:g.90976683T>A	ClinGen:CA371656983	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.948C>T (p.Phe316=)	4683	NBN	Likely benign	1429467104	RCV002191741;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976684	90976684	90976684	-
NM_002485.5(NBN):c.943A>G (p.Ile315Val)	4683	NBN	Uncertain significance	878854517	RCV000228792\|RCV002444895;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976689	90976689	NC_000008.10:g.90976689T>C	ClinGen:CA10582600	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.942G>A (p.Val314=)	4683	NBN	Likely benign	749757928	RCV000218132\|RCV000636804\|RCV001705218;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90976690	90976690	8:g.90976690C>T	ClinGen:CA4802845	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.942G>C (p.Val314=)	4683	NBN	Likely benign	749757928	RCV002194906;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976690	90976690	90976690	-
NM_002485.5(NBN):c.941T>A (p.Val314Glu)	4683	NBN	Uncertain significance	771086262	RCV000806235;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976691	90976691	8:g.90976691A>T	-
NM_002485.5(NBN):c.940G>A (p.Val314Met)	4683	NBN	Uncertain significance	529845940	RCV000130348\|RCV000464039\|RCV000781636\|RCV002469021\|RCV003467142;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90976692	90976692	8:g.90976692C>T	ClinGen:CA166244	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.939G>A (p.Ala313=)	4683	NBN	Benign/Likely benign	145750430	RCV000127084\|RCV000212728\|RCV000679469\|RCV001083723\|RCV003315819;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontolog	8	90976693	90976693	8:g.90976693C>T	ClinGen:CA292409	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.939G>T (p.Ala313=)	4683	NBN	Likely benign	145750430	RCV000636808;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976693	90976693	NC_000008.10:g.90976693C>A	ClinGen:CA461830736	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.938C>T (p.Ala313Val)	4683	NBN	Uncertain significance	730881862	RCV000160802\|RCV000204213\|RCV000656927\|RCV001358619\|RCV001420902\|RCV003467266;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,Med	8	90976694	90976694	NC_000008.10:g.90976694G>A	ClinGen:CA247602	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.937G>T (p.Ala313Ser)	4683	NBN	Uncertain significance	876660584	RCV000215710\|RCV000690052;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976695	90976695	8:g.90976695C>A	ClinGen:CA10578783	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.937G>A (p.Ala313Thr)	4683	NBN	Uncertain significance	-1	RCV002373846\|RCV003094798;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976695	90976695	90976695	-
NM_002485.5(NBN):c.936G>A (p.Leu312=)	4683	NBN	Likely benign	148517156	RCV000165907\|RCV000608763\|RCV000936747;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976696	90976696	8:g.90976696C>T	ClinGen:CA194497	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.936G>C (p.Leu312Phe)	4683	NBN	Uncertain significance	148517156	RCV000216349\|RCV001800569;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976696	90976696	8:g.90976696C>G	ClinGen:CA10578784	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.935T>C (p.Leu312Ser)	4683	NBN	Uncertain significance	371480039	RCV000132302\|RCV000528665\|RCV001557142\|RCV003474787;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90976697	90976697	8:g.90976697A>G	ClinGen:CA169602	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.935T>A (p.Leu312Ter)	4683	NBN	Pathogenic/Likely pathogenic	371480039	RCV000544042;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976697	90976697	8:g.90976697A>T	ClinGen:CA371657029	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.934T>C (p.Leu312=)	4683	NBN	Likely benign	1811149387	RCV002069190;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976698	90976698	8:g.90976698A>G	-
NM_002485.5(NBN):c.933A>T (p.Gly311=)	4683	NBN	Likely benign	2129786626	RCV002568810;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976699	90976699	90976699	-
NM_002485.5(NBN):c.932G>A (p.Gly311Glu)	4683	NBN	Uncertain significance	1563548856	RCV000777081\|RCV000806728\|RCV001539258;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90976700	90976700	NC_000008.10:g.90976700C>T	-
NM_002485.5(NBN):c.932G>T (p.Gly311Val)	4683	NBN	Uncertain significance	1563548856	RCV001019179\|RCV001800929;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976700	90976700	8:g.90976700C>A	-
NM_002485.5(NBN):c.930T>A (p.Ile310=)	4683	NBN	Likely benign	142813526	RCV000162715\|RCV000197141\|RCV000426080\|RCV001355085\|RCV001704157;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900	8	90976702	90976702	8:g.90976702A>T	ClinGen:CA186790	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.930T>C (p.Ile310=)	4683	NBN	Likely benign	142813526	RCV000570297\|RCV001505330;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976702	90976702	NC_000008.10:g.90976702A>G	ClinGen:CA461830741	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.929T>C (p.Ile310Thr)	4683	NBN	Uncertain significance	753812768	RCV000233897\|RCV000570742\|RCV002478858\|RCV003469159;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C00	8	90976703	90976703	8:g.90976703A>G	ClinGen:CA4802847	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.927A>T (p.Glu309Asp)	4683	NBN	Uncertain significance	1811150445	RCV001237958;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976705	90976705	8:g.90976705T>A	-
NM_002485.5(NBN):c.925G>A (p.Glu309Lys)	4683	NBN	Uncertain significance	587780101	RCV000214503\|RCV000588924\|RCV000636751\|RCV003474715;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90976707	90976707	8:g.90976707C>T	ClinGen:CA287953	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.900_924del (p.Gly301fs)	4683	NBN	Pathogenic/Likely pathogenic	1057519587	RCV000417085\|RCV002374624\|RCV003470374;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90976708	90976732	8:g.90976708_90976732del	ClinGen:CA16044377	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.924A>G (p.Ala308=)	4683	NBN	Likely benign	1554562173	RCV000570003\|RCV000603058\|RCV001444812;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976708	90976708	8:g.90976708T>C	ClinGen:CA461830744	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.923C>G (p.Ala308Gly)	4683	NBN	Uncertain significance	1554562176	RCV000547926\|RCV000570689;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976709	90976709	NC_000008.10:g.90976709G>C	ClinGen:CA371657069	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.923C>T (p.Ala308Val)	4683	NBN	Uncertain significance	1554562176	RCV001237853;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976709	90976709	8:g.90976709G>A	-
NM_002485.5(NBN):c.921A>G (p.Glu307=)	4683	NBN	Likely benign	1554562180	RCV000535455;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976711	90976711	NC_000008.10:g.90976711T>C	ClinGen:CA461830746	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.920A>T (p.Glu307Val)	4683	NBN	Uncertain significance	2129786912	RCV001995215;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976712	90976712	90976712	-
NM_002485.5(NBN):c.920A>C (p.Glu307Ala)	4683	NBN	Uncertain significance	-1	RCV003070426;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976712	90976712	NC_000008.10:g.90976712T>G	-
NM_002485.5(NBN):c.919G>C (p.Glu307Gln)	4683	NBN	Uncertain significance	1554562182	RCV000527251;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976713	90976713	NC_000008.10:g.90976713C>G	ClinGen:CA371657091	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.919G>A (p.Glu307Lys)	4683	NBN	Uncertain significance	1554562182	RCV002044887;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976713	90976713	90976713	-
NM_002485.5(NBN):c.917del (p.Pro306fs)	4683	NBN	Pathogenic	1554562185	RCV000569950\|RCV000705860;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976715	90976715	8:g.90976715_90976715del	ClinGen:CA658657803	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.917C>T (p.Pro306Leu)	4683	NBN	Uncertain significance	1563548981	RCV000818441\|RCV002372322;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976715	90976715	8:g.90976715G>A	-
NM_002485.5(NBN):c.916C>T (p.Pro306Ser)	4683	NBN	Uncertain significance	1811151665	RCV001350978;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976716	90976716	90976716	-
NM_002485.5(NBN):c.914T>C (p.Ile305Thr)	4683	NBN	Uncertain significance	1586076225	RCV001018920\|RCV001192405\|RCV001800927\|RCV002281146;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90976718	90976718	8:g.90976718A>G	-
NM_002485.5(NBN):c.913A>C (p.Ile305Leu)	4683	NBN	Uncertain significance	1554562189	RCV000551269\|RCV002377046;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976719	90976719	8:g.90976719T>G	ClinGen:CA371657117	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.911C>G (p.Pro304Arg)	4683	NBN	Uncertain significance	536965870	RCV000217672\|RCV000706657\|RCV001354721;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90976721	90976721	8:g.90976721G>C	ClinGen:CA10578785	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.911C>T (p.Pro304Leu)	4683	NBN	Uncertain significance	536965870	RCV000231105\|RCV000583221;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976721	90976721	8:g.90976721G>A	ClinGen:CA4802848	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.911del (p.Pro304fs)	4683	NBN	Pathogenic	1563549036	RCV000690767;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976721	90976721	8:g.90976721_90976721del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.910C>A (p.Pro304Thr)	4683	NBN	Uncertain significance	2129787141	RCV001371724;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976722	90976722	90976722	-
NM_002485.5(NBN):c.906T>C (p.Leu302=)	4683	NBN	Likely benign	2129787176	RCV001408420;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976726	90976726	90976726	-
NM_002485.5(NBN):c.904C>G (p.Leu302Val)	4683	NBN	Uncertain significance	2129787198	RCV001974966;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976728	90976728	90976728	-
NM_002485.5(NBN):c.902G>A (p.Gly301Asp)	4683	NBN	Uncertain significance	749857140	RCV000579648\|RCV001367833;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976730	90976730	NC_000008.10:g.90976730C>T	ClinGen:CA4802850	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.902G>T (p.Gly301Val)	4683	NBN	Uncertain significance	749857140	RCV002021511\|RCV003236921;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90976730	90976730	90976730	-
NM_002485.5(NBN):c.901G>C (p.Gly301Arg)	4683	NBN	Uncertain significance	1280333137	RCV000636753\|RCV002377381;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976731	90976731	NC_000008.10:g.90976731C>G	ClinGen:CA371657160	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.901G>A (p.Gly301Ser)	4683	NBN	Uncertain significance	1280333137	RCV001970940;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976731	90976731	90976731	-
NM_002485.5(NBN):c.900A>T (p.Gln300His)	4683	NBN	Uncertain significance	1811152792	RCV001068601;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976732	90976732	8:g.90976732T>A	-
NM_002485.5(NBN):c.900A>G (p.Gln300=)	4683	NBN	Likely benign	1811152792	RCV002114320;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976732	90976732	90976732	-
NM_002485.5(NBN):c.899A>G (p.Gln300Arg)	4683	NBN	Uncertain significance	758070132	RCV001018596\|RCV001238397;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976733	90976733	8:g.90976733T>C	-
NM_002485.5(NBN):c.897G>A (p.Arg299=)	4683	NBN	Conflicting interpretations of pathogenicity	779798363	RCV000816520\|RCV001018584\|RCV001564380;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90976735	90976735	8:g.90976735C>T	-
NM_002485.5(NBN):c.897-1G>A	4683	NBN	Likely pathogenic	1586076299	RCV001018577\|RCV001873311;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976736	90976736	8:g.90976736C>T	-
NM_002485.5(NBN):c.897-2A>T	4683	NBN	Likely pathogenic	864622090	RCV000204744\|RCV000222760\|RCV001567181\|RCV002057048\|RCV003401102\|RCV003474977;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotyp	8	90976737	90976737	8:g.90976737T>A	ClinGen:CA348947	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.897-2A>G	4683	NBN	Likely pathogenic	864622090	RCV000793764;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976737	90976737	8:g.90976737T>C	-
NM_002485.5(NBN):c.897-3T>C	4683	NBN	Uncertain significance	2129787405	RCV002001094\|RCV003289349;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976738	90976738	90976738	-
NM_002485.5(NBN):c.897-5A>G	4683	NBN	Conflicting interpretations of pathogenicity	1586076321	RCV000927067\|RCV002445037;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90976740	90976740	8:g.90976740T>C	-
NM_002485.5(NBN):c.897-5A>C	4683	NBN	Likely benign	-1	RCV002871396;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976740	90976740	NC_000008.10:g.90976740T>G	-
NM_002485.5(NBN):c.897-11_897-6del	4683	NBN	Uncertain significance	1586076334	RCV000791762;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976741	90976746	8:g.90976741_90976746del	-
NM_002485.5(NBN):c.897-7del	4683	NBN	Likely benign	2129787510	RCV002169680;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976742	90976742	90976741	-
NM_002485.5(NBN):c.897-8T>C	4683	NBN	Likely benign	2129787526	RCV002184277;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976743	90976743	90976743	-
NM_002485.5(NBN):c.897-10A>G	4683	NBN	Likely benign	1563549139	RCV000899135;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976745	90976745	NC_000008.10:g.90976745T>C	-
NM_002485.5(NBN):c.897-10A>T	4683	NBN	Likely benign	-1	RCV002594099;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976745	90976745	NC_000008.10:g.90976745T>A	-
NM_002485.5(NBN):c.897-14T>C	4683	NBN	Likely benign	2129787557	RCV002183193;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976749	90976749	90976749	-
NM_002485.5(NBN):c.897-19_897-15del	4683	NBN	Likely benign	-1	RCV002790201;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976750	90976754	NC_000008.10:g.90976752_90976756del	-
NM_002485.5(NBN):c.897-16T>C	4683	NBN	Likely benign	-1	RCV003054123;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976751	90976751	NC_000008.10:g.90976751A>G	-
NM_002485.5(NBN):c.897-18dup	4683	NBN	Likely benign	957902993	RCV000486530\|RCV002063695;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976752	90976753	8:g.90976752_90976753insT	ClinGen:CA16618702	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.897-23_897-20del	4683	NBN	Likely benign	2129787608	RCV002219149;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90976755	90976758	90976754	-
NM_002485.5(NBN):c.896+19T>C	4683	NBN	Likely benign	-1	RCV002819906;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982573	90982573	NC_000008.10:g.90982573A>G	-
NM_002485.5(NBN):c.896+18A>G	4683	NBN	Likely benign	-1	RCV002746304;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982574	90982574	NC_000008.10:g.90982574T>C	-
NM_002485.5(NBN):c.896+14C>A	4683	NBN	Likely benign	1468311992	RCV001850969;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982578	90982578	NC_000008.10:g.90982578G>T	-
NM_002485.5(NBN):c.896+13T>G	4683	NBN	Benign/Likely benign	376695206	RCV001354282\|RCV001637094\|RCV002061888;	N	MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982579	90982579	8:g.90982579A>C	ClinGen:CA4802872	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.896+13T>C	4683	NBN	Likely benign	376695206	RCV000609233\|RCV002061887;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982579	90982579	8:g.90982579A>G	ClinGen:CA658683513	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.896+10dup	4683	NBN	Likely benign	763938484	RCV000480951\|RCV002056786;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982581	90982582	8:g.90982581_90982582insA	ClinGen:CA4802873	CN169374 not specified;
NC_000008.10:g.(?_90982582)_(90990561_?)del	4683	NBN	Pathogenic	-1	RCV001987471;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982582	90990561	-1	-
NC_000008.10:g.(?_90982582)_(90983528_?)del	4683	NBN	Uncertain significance	-1	RCV001940139;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982582	90983528	-1	-
NC_000008.10:g.(?_90982582)_(90996789_?)dup	4683	NBN	Uncertain significance	-1	RCV003107701;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982582	90996789		-
NM_002485.5(NBN):c.896+8A>G	4683	NBN	Likely benign	2129826754	RCV002157929;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982584	90982584	90982584	-
NM_002485.5(NBN):c.896+7A>G	4683	NBN	Likely benign	1060504926	RCV000469470;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982585	90982585	NC_000008.10:g.90982585T>C	ClinGen:CA16612494	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.896+6G>A	4683	NBN	Likely benign	1811448021	RCV001068639;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982586	90982586	8:g.90982586C>T	-
NM_002485.5(NBN):c.896+6G>T	4683	NBN	Uncertain significance	1811448021	RCV001364836;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982586	90982586	90982586	-
NM_002485.5(NBN):c.896+4T>C	4683	NBN	Benign/Likely benign	190843577	RCV000216736\|RCV000444040\|RCV000533968\|RCV001800556;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90982588	90982588	8:g.90982588A>G	ClinGen:CA4802874	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.896+4T>A	4683	NBN	Uncertain significance	190843577	RCV001362922;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982588	90982588	90982588	-
NM_002485.5(NBN):c.896+3A>T	4683	NBN	Uncertain significance	1158019133	RCV000811397;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982589	90982589	8:g.90982589T>A	-
NM_002485.5(NBN):c.896+3A>G	4683	NBN	Uncertain significance	1158019133	RCV001243395;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982589	90982589	8:g.90982589T>C	-
NM_002485.5(NBN):c.896+2T>C	4683	NBN	Conflicting interpretations of pathogenicity	754659423	RCV000815940\|RCV002442734\|RCV003467475;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90982590	90982590	8:g.90982590A>G	-
NM_002485.5(NBN):c.896+1G>T	4683	NBN	Likely pathogenic	778306619	RCV001377438;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982591	90982591	NC_000008.10:g.90982591C>A	-
NM_002485.5(NBN):c.896+1G>A	4683	NBN	Likely pathogenic	778306619	RCV001873158\|RCV003166060\|RCV003465700;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90982591	90982591	NC_000008.10:g.90982591C>T	-
NM_002485.5(NBN):c.895A>C (p.Arg299=)	4683	NBN	Uncertain significance	1554563784	RCV000557925\|RCV002448666;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982593	90982593	NC_000008.10:g.90982593T>G	ClinGen:CA461830778	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.890T>C (p.Leu297Pro)	4683	NBN	Uncertain significance	757787958	RCV001906713;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982598	90982598	90982598	-
NM_002485.5(NBN):c.889C>T (p.Leu297Phe)	4683	NBN	Uncertain significance	-1	RCV003058200;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982599	90982599	NC_000008.10:g.90982599G>A	-
NM_002485.5(NBN):c.886A>G (p.Met296Val)	4683	NBN	Uncertain significance	1241439290	RCV001993863;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982602	90982602	90982602	-
NM_002485.5(NBN):c.885T>C (p.Asp295=)	4683	NBN	Likely benign	2129827145	RCV001401177;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982603	90982603	90982603	-
NM_002485.5(NBN):c.884A>T (p.Asp295Val)	4683	NBN	Uncertain significance	1208423434	RCV000636707\|RCV002377380;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982604	90982604	NC_000008.10:g.90982604T>A	ClinGen:CA371658217	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.884A>C (p.Asp295Ala)	4683	NBN	Uncertain significance	1208423434	RCV000776271\|RCV000808308;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982604	90982604	NC_000008.10:g.90982604T>G	-
NM_002485.5(NBN):c.884A>G (p.Asp295Gly)	4683	NBN	Uncertain significance	1208423434	RCV001360434\|RCV002377512;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982604	90982604	90982604	-
NM_002485.5(NBN):c.882G>C (p.Met294Ile)	4683	NBN	Uncertain significance	1811450172	RCV001236570\|RCV002447181\|RCV003473810;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90982606	90982606	8:g.90982606C>G	-
NM_002485.5(NBN):c.881T>C (p.Met294Thr)	4683	NBN	Uncertain significance	779346343	RCV000478839\|RCV001036229\|RCV002446933;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982607	90982607	8:g.90982607A>G	ClinGen:CA4802879	CN169374 not specified;
NM_002485.5(NBN):c.880A>T (p.Met294Leu)	4683	NBN	Uncertain significance	746381477	RCV000166860\|RCV000478151\|RCV000545234;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982608	90982608	8:g.90982608T>A	ClinGen:CA196894	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.879A>G (p.Ile293Met)	4683	NBN	Uncertain significance	1811450612	RCV001224280;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982609	90982609	8:g.90982609T>C	-
NM_002485.5(NBN):c.877A>G (p.Ile293Val)	4683	NBN	Uncertain significance	1283506577	RCV001018310\|RCV001055556;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982611	90982611	8:g.90982611T>C	-
NM_002485.5(NBN):c.877del (p.Ser292_Ile293insTer)	4683	NBN	Pathogenic	1811450828	RCV001068095;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982611	90982611	8:g.90982611_90982611del	-
NM_002485.5(NBN):c.876A>C (p.Ser292=)	4683	NBN	Likely benign	2129827371	RCV001461167;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982612	90982612	90982612	-
NM_002485.5(NBN):c.875C>T (p.Ser292Leu)	4683	NBN	Uncertain significance	1811450946	RCV001208143\|RCV002375149;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982613	90982613	8:g.90982613G>A	-
NM_002485.5(NBN):c.874T>C (p.Ser292Pro)	4683	NBN	Uncertain significance	876660700	RCV000219392\|RCV000537309;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982614	90982614	8:g.90982614A>G	ClinGen:CA10578787	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.873G>A (p.Gln291=)	4683	NBN	Likely benign	786202939	RCV000166014\|RCV000432451\|RCV001484767;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982615	90982615	8:g.90982615C>T	ClinGen:CA194775	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.872dup (p.Ser292fs)	4683	NBN	Pathogenic/Likely pathogenic	1563559078	RCV000698778\|RCV001565743\|RCV001189634\|RCV003472227;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90982615	90982616	8:g.90982615_90982616insT	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.873G>C (p.Gln291His)	4683	NBN	Uncertain significance	786202939	RCV001958530;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982615	90982615	90982615	-
NM_002485.5(NBN):c.872A>G (p.Gln291Arg)	4683	NBN	Uncertain significance	587778547	RCV000121623\|RCV000583974\|RCV000666592;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982616	90982616	8:g.90982616T>C	ClinGen:CA160996	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.871C>T (p.Gln291Ter)	4683	NBN	Pathogenic	1554563822	RCV000656225\|RCV001387363;	N	Human Phenotype Ontology:HP:0001587,Human Phenotype Ontology:HP:0008209,Human Phenotype Ontology:HP:0100805,MONDO:MONDO:0001119,MedGen:C0025322\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982617	90982617	8:g.90982617G>A	ClinGen:CA371658288	C0025322 Premature ovarian insufficiency;
NM_002485.5(NBN):c.867G>T (p.Trp289Cys)	4683	NBN	Uncertain significance	1060503475	RCV000475235\|RCV003168857;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982621	90982621	NC_000008.10:g.90982621C>A	ClinGen:CA16612369	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.866G>T (p.Trp289Leu)	4683	NBN	Uncertain significance	876660117	RCV000223412\|RCV001205387;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982622	90982622	8:g.90982622C>A	ClinGen:CA10578788	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.865T>A (p.Trp289Arg)	4683	NBN	Uncertain significance	1563559145	RCV000698816;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982623	90982623	NC_000008.10:g.90982623A>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.865T>G (p.Trp289Gly)	4683	NBN	Uncertain significance	1563559145	RCV000687801\|RCV002369842;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982623	90982623	8:g.90982623A>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.864A>G (p.Lys288=)	4683	NBN	Likely benign	1554563842	RCV000562626\|RCV000636806\|RCV001591323;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90982624	90982624	NC_000008.10:g.90982624T>C	ClinGen:CA461830790	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.857dup (p.Lys287fs)	4683	NBN	Pathogenic	-1	RCV003051559;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982630	90982631	NC_000008.10:g.90982631dup	-
NM_002485.5(NBN):c.857A>G (p.Gln286Arg)	4683	NBN	Uncertain significance	1586086458	RCV002004780\|RCV002442938\|RCV002484785;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C00	8	90982631	90982631	90982631	-
NM_002485.5(NBN):c.855T>A (p.Cys285Ter)	4683	NBN	Pathogenic	-1	RCV003029514;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982633	90982633	NC_000008.10:g.90982633A>T	-
NM_002485.5(NBN):c.854G>C (p.Cys285Ser)	4683	NBN	Conflicting interpretations of pathogenicity	863224715	RCV000196198\|RCV001017981;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982634	90982634	NC_000008.10:g.90982634C>G	ClinGen:CA336228	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.851_854del (p.Asp284fs)	4683	NBN	Pathogenic	2129827880	RCV001923743;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982634	90982637	90982633	-
NM_002485.5(NBN):c.853T>G (p.Cys285Gly)	4683	NBN	Uncertain significance	1563559186	RCV000698817;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982635	90982635	NC_000008.10:g.90982635A>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.852C>G (p.Asp284Glu)	4683	NBN	Uncertain significance	2129827918	RCV001938265;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982636	90982636	90982636	-
NM_002485.5(NBN):c.851A>G (p.Asp284Gly)	4683	NBN	Uncertain significance	772176894	RCV000792912\|RCV002442616;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982637	90982637	8:g.90982637T>C	-
NM_002485.5(NBN):c.851A>T (p.Asp284Val)	4683	NBN	Uncertain significance	-1	RCV002576699;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982637	90982637	NC_000008.10:g.90982637T>A	-
NM_002485.5(NBN):c.848C>A (p.Pro283His)	4683	NBN	Uncertain significance	1554563853	RCV000636760\|RCV002257884;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982640	90982640	8:g.90982640G>T	ClinGen:CA371658429	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.848del (p.Pro283fs)	4683	NBN	Pathogenic/Likely pathogenic	2129827996	RCV001993209\|RCV003348687;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982640	90982640	90982639	-
NM_002485.5(NBN):c.847C>T (p.Pro283Ser)	4683	NBN	Uncertain significance	1811453358	RCV001226182\|RCV002447134;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982641	90982641	8:g.90982641G>A	-
NM_002485.5(NBN):c.842dup (p.Leu281fs)	4683	NBN	Pathogenic	864309669	RCV000007357\|RCV003343598;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982645	90982646	NC_000008.10:g.90982647dup	ClinGen:CA278581,OMIM:602667.0004	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.843A>G (p.Leu281=)	4683	NBN	Likely benign	1586086525	RCV001017773\|RCV001456162;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982645	90982645	8:g.90982645T>C	-
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)	4683	NBN	Pathogenic	786205135	RCV000170447\|RCV000772328\|RCV003398875\|RCV003468849;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90982646	90982646	NC_000008.10:g.90982646A>C	ClinGen:CA334800,ClinVar:424713	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.836_839del (p.Gln279fs)	4683	NBN	Pathogenic	864309668	RCV000007356;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982649	90982652	NC_000008.10:g.90982651_90982654del	ClinGen:CA278580,OMIM:602667.0003	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.839C>T (p.Thr280Ile)	4683	NBN	Conflicting interpretations of pathogenicity	2129828243	RCV001763149\|RCV002440854\|RCV002540321;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982649	90982649	90982649	-
NM_002485.5(NBN):c.837G>A (p.Gln279=)	4683	NBN	Likely benign	896641519	RCV001394750;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982651	90982651	90982651	-
NM_002485.5(NBN):c.836A>C (p.Gln279Pro)	4683	NBN	Uncertain significance	864622116	RCV000206209\|RCV000999050\|RCV001017610;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982652	90982652	8:g.90982652T>G	ClinGen:CA350268	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.836del (p.Gln279fs)	4683	NBN	Pathogenic	1554563878	RCV000533541;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982652	90982652	NC_000008.10:g.90982652del	ClinGen:CA658657805	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.836A>G (p.Gln279Arg)	4683	NBN	Uncertain significance	864622116	RCV001036872\|RCV001772214\|RCV002434431;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982652	90982652	8:g.90982652T>C	-
NM_002485.5(NBN):c.835C>G (p.Gln279Glu)	4683	NBN	Uncertain significance	1586086585	RCV000812872\|RCV002257980;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982653	90982653	8:g.90982653G>C	-
NM_002485.5(NBN):c.832_835del (p.Ser278fs)	4683	NBN	Pathogenic	-1	RCV003034998;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982653	90982656	NC_000008.10:g.90982655_90982658del	-
NM_002485.5(NBN):c.834A>T (p.Ser278=)	4683	NBN	Likely benign	2129828382	RCV001437876;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982654	90982654	90982654	-
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)	4683	NBN	Uncertain significance	1225178489	RCV000589829\|RCV000772494\|RCV000701071\|RCV001355653;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0007254,MedGen:C0006142	8	90982656	90982656	8:g.90982656A>C	ClinGen:CA371658496	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.832T>C (p.Ser278Pro)	4683	NBN	Uncertain significance	1225178489	RCV002536652;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982656	90982656	NC_000008.10:g.90982656A>G	-
NM_002485.5(NBN):c.831C>T (p.Asn277=)	4683	NBN	Likely benign	-1	RCV002856998;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982657	90982657		-
NM_002485.5(NBN):c.830A>C (p.Asn277Thr)	4683	NBN	Uncertain significance	876658579	RCV002425337\|RCV001990315;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982658	90982658	90982658	-
NM_002485.5(NBN):c.829A>G (p.Asn277Asp)	4683	NBN	Uncertain significance	1563559349	RCV000777331\|RCV001058594;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982659	90982659	NC_000008.10:g.90982659T>C	-
NM_002485.5(NBN):c.827C>G (p.Thr276Arg)	4683	NBN	Uncertain significance	864622304	RCV000205187\|RCV000219109\|RCV000759889;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90982661	90982661	8:g.90982661G>C	ClinGen:CA349372	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.826A>T (p.Thr276Ser)	4683	NBN	Uncertain significance	1554563895	RCV000574393\|RCV000813090\|RCV003470831;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90982662	90982662	8:g.90982662T>A	ClinGen:CA371658517	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.826A>G (p.Thr276Ala)	4683	NBN	Uncertain significance	1554563895	RCV000574259\|RCV002528147;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982662	90982662	8:g.90982662T>C	ClinGen:CA371658518	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.825A>G (p.Ile275Met)	4683	NBN	Uncertain significance	2129828602	RCV001368730;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982663	90982663	90982663	-
NM_002485.5(NBN):c.822A>G (p.Gly274=)	4683	NBN	Likely benign	1270883453	RCV000557452\|RCV001027304;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982666	90982666	NC_000008.10:g.90982666T>C	ClinGen:CA461830815	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.822A>C (p.Gly274=)	4683	NBN	Likely benign	1270883453	RCV001496966;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982666	90982666	90982666	-
NM_002485.5(NBN):c.821G>A (p.Gly274Glu)	4683	NBN	Uncertain significance	-1	RCV003021852;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982667	90982667	NC_000008.10:g.90982667C>T	-
NM_002485.5(NBN):c.820G>A (p.Gly274Arg)	4683	NBN	Uncertain significance	540837864	RCV000165067\|RCV001324635;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982668	90982668	8:g.90982668C>T	ClinGen:CA192429	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.819A>T (p.Thr273=)	4683	NBN	Benign/Likely benign	147660518	RCV000123220\|RCV000163635\|RCV001357412\|RCV001711398;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900	8	90982669	90982669	8:g.90982669T>A	ClinGen:CA188811	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.819A>G (p.Thr273=)	4683	NBN	Likely benign	147660518	RCV002186621;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982669	90982669	90982669	-
NM_002485.5(NBN):c.817dup (p.Thr273fs)	4683	NBN	Pathogenic/Likely pathogenic	730881839	RCV000160766\|RCV000258971\|RCV001226188\|RCV003467257;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90982670	90982671	NC_000008.10:g.90982671dup	ClinGen:CA299574	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.818C>T (p.Thr273Ile)	4683	NBN	Conflicting interpretations of pathogenicity	1554563912	RCV000636779\|RCV001525443;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982670	90982670	NC_000008.10:g.90982670G>A	ClinGen:CA371658541	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.818C>A (p.Thr273Lys)	4683	NBN	Uncertain significance	1554563912	RCV001231194;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982670	90982670	8:g.90982670G>T	-
NM_002485.5(NBN):c.817A>G (p.Thr273Ala)	4683	NBN	Uncertain significance	-1	RCV002580759;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982671	90982671	NC_000008.10:g.90982671T>C	-
NM_002485.5(NBN):c.816T>C (p.Asp272=)	4683	NBN	Likely benign	1811457608	RCV002154303\|RCV002427703;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982672	90982672	90982672	-
NM_002485.5(NBN):c.815A>G (p.Asp272Gly)	4683	NBN	Uncertain significance	730881847	RCV000160784\|RCV001045936\|RCV001027233;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982673	90982673	NC_000008.10:g.90982673T>C	ClinGen:CA299605	CN517202 not provided;
NM_002485.5(NBN):c.813T>C (p.Val271=)	4683	NBN	Likely benign	1811458034	RCV001404317;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982675	90982675	90982675	-
NM_002485.5(NBN):c.812T>C (p.Val271Ala)	4683	NBN	Uncertain significance	1811458181	RCV001306375\|RCV002418928;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982676	90982676	90982676	-
NM_002485.5(NBN):c.812T>G (p.Val271Gly)	4683	NBN	Uncertain significance	1811458181	RCV001322580;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982676	90982676	90982676	-
NM_002485.5(NBN):c.811G>A (p.Val271Ile)	4683	NBN	Uncertain significance	876659388	RCV000213119\|RCV000704308;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982677	90982677	8:g.90982677C>T	ClinGen:CA10578791	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.811G>T (p.Val271Phe)	4683	NBN	Uncertain significance	876659388	RCV000567422\|RCV001220365;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982677	90982677	8:g.90982677C>A	ClinGen:CA371658567	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.810T>G (p.Val270=)	4683	NBN	Likely benign	1431420897	RCV002115318\|RCV002416430;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982678	90982678	90982678	-
NM_002485.5(NBN):c.808_809del (p.Val270fs)	4683	NBN	Pathogenic/Likely pathogenic	786202490	RCV000165330\|RCV000205978\|RCV000480505\|RCV003462169;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90982679	90982680	8:g.90982679_90982680del	ClinGen:CA193101	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.809T>C (p.Val270Ala)	4683	NBN	Uncertain significance	1811458659	RCV001219534;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982679	90982679	8:g.90982679A>G	-
NM_002485.5(NBN):c.808G>A (p.Val270Ile)	4683	NBN	Uncertain significance	1811458935	RCV001070998;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982680	90982680	8:g.90982680C>T	-
NM_002485.5(NBN):c.806G>A (p.Cys269Tyr)	4683	NBN	Uncertain significance	768822147	RCV000234276\|RCV001027137;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982682	90982682	NC_000008.10:g.90982682C>T	ClinGen:CA10582601	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.806G>C (p.Cys269Ser)	4683	NBN	Uncertain significance	768822147	RCV000709062;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982682	90982682	8:g.90982682C>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.806G>T (p.Cys269Phe)	4683	NBN	Uncertain significance	768822147	RCV000809056;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982682	90982682	8:g.90982682C>A	-
NM_002485.5(NBN):c.805T>C (p.Cys269Arg)	4683	NBN	Uncertain significance	-1	RCV002304299;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982683	90982683	90982683	-
NM_002485.5(NBN):c.804G>A (p.Thr268=)	4683	NBN	Benign/Likely benign	141443872	RCV000162556\|RCV000230367\|RCV000432490\|RCV002225473\|RCV002478496\|RCV003315978;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:C3661900\|Human Phenotype Ontology:HP:00048	8	90982684	90982684	8:g.90982684C>T	ClinGen:CA186463	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.804G>T (p.Thr268=)	4683	NBN	Conflicting interpretations of pathogenicity	141443872	RCV000544774\|RCV001328442\|RCV002413489;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982684	90982684	NC_000008.10:g.90982684C>A	ClinGen:CA461830826	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.804G>C (p.Thr268=)	4683	NBN	Likely benign	141443872	RCV002061886\|RCV003352928;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982684	90982684	8:g.90982684C>G	ClinGen:CA461830827	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.803C>T (p.Thr268Met)	4683	NBN	Uncertain significance	535602436	RCV000160801\|RCV000212738\|RCV000465872\|RCV000999051\|RCV002484999\|RCV003467265;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90982685	90982685	8:g.90982685G>A	ClinGen:CA299651	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.803del (p.Thr268fs)	4683	NBN	Likely pathogenic	-1	RCV003230977;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982685	90982685		-
NM_002485.5(NBN):c.802A>G (p.Thr268Ala)	4683	NBN	Uncertain significance	2129829282	RCV001804512\|RCV001885270;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982686	90982686	90982686	-
NM_002485.5(NBN):c.800dup (p.Thr268fs)	4683	NBN	Pathogenic/Likely pathogenic	1554563955	RCV000657440\|RCV001800841;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982687	90982688	8:g.90982687_90982688insC	-	CN517202 not provided;
NM_002485.5(NBN):c.765_801del (p.Asn256fs)	4683	NBN	Pathogenic	2129829309	RCV001385555;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982687	90982723	90982686	-
NM_002485.5(NBN):c.800G>A (p.Gly267Glu)	4683	NBN	Conflicting interpretations of pathogenicity	747837246	RCV001027059\|RCV001066171;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982688	90982688	8:g.90982688C>T	-
NM_002485.5(NBN):c.798G>A (p.Pro266=)	4683	NBN	Conflicting interpretations of pathogenicity	368786672	RCV000418518\|RCV000459383\|RCV000566951\|RCV001357322\|RCV002473004;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900	8	90982690	90982690	8:g.90982690C>T	ClinGen:CA4802884	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.798G>T (p.Pro266=)	4683	NBN	Likely benign	368786672	RCV001428104\|RCV003298727;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982690	90982690	90982690	-
NM_002485.5(NBN):c.797C>T (p.Pro266Leu)	4683	NBN	Benign/Likely benign	769420	RCV000121625\|RCV000129165\|RCV000425619\|RCV001082237\|RCV002225386\|RCV002498573\|RCV003315763;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0009623,MedGen:C03987	8	90982691	90982691	8:g.90982691G>A	ClinGen:CA161002,UniProtKB:O60934#VAR_025801	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.796C>G (p.Pro266Ala)	4683	NBN	Uncertain significance	762956906	RCV000581122\|RCV001800799;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982692	90982692	8:g.90982692G>C	ClinGen:CA4802885	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.796C>T (p.Pro266Ser)	4683	NBN	Uncertain significance	762956906	RCV000805768;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982692	90982692	NC_000008.10:g.90982692G>A	-
NM_002485.5(NBN):c.794C>T (p.Ala265Val)	4683	NBN	Uncertain significance	61612852	RCV000204340;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982694	90982694	8:g.90982694G>A	ClinGen:CA348590	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.793G>A (p.Ala265Thr)	4683	NBN	Uncertain significance	876658382	RCV000564477\|RCV001064128;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982695	90982695	NC_000008.10:g.90982695C>T	ClinGen:CA371658624	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.790T>C (p.Leu264=)	4683	NBN	Likely benign	2129829667	RCV001438933\|RCV002420990;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982698	90982698	90982698	-
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)	4683	NBN	Conflicting interpretations of pathogenicity	147626427	RCV000115806\|RCV000199794\|RCV000212737\|RCV000656926;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MedGen:C3661900	8	90982700	90982700	8:g.90982700A>G	ClinGen:CA287950	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.787T>A (p.Phe263Ile)	4683	NBN	Uncertain significance	1554563966	RCV000571687\|RCV000688165;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982701	90982701	8:g.90982701A>T	ClinGen:CA371658648	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.786C>A (p.Phe262Leu)	4683	NBN	Conflicting interpretations of pathogenicity	372159380	RCV000165014\|RCV000214639\|RCV000473725\|RCV001264536\|RCV003462161;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90982702	90982702	8:g.90982702G>T	ClinGen:CA192297	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.786C>G (p.Phe262Leu)	4683	NBN	Uncertain significance	372159380	RCV000775829\|RCV001302594;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982702	90982702	NC_000008.10:g.90982702G>C	-
NM_002485.5(NBN):c.785_786delinsAA (p.Phe262Ter)	4683	NBN	Pathogenic	2129829803	RCV001956499;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982702	90982703	90982702	-
NM_002485.5(NBN):c.783T>G (p.Asn261Lys)	4683	NBN	Uncertain significance	375336614	RCV000216808\|RCV000532301\|RCV000565009;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982705	90982705	8:g.90982705A>C	ClinGen:CA4802886	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.783T>C (p.Asn261=)	4683	NBN	Likely benign	375336614	RCV001441538;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982705	90982705	90982705	-
NM_002485.5(NBN):c.782A>T (p.Asn261Ile)	4683	NBN	Uncertain significance	1811461476	RCV001061819\|RCV002411577\|RCV002509604;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90982706	90982706	8:g.90982706T>A	-
NM_002485.5(NBN):c.781A>G (p.Asn261Asp)	4683	NBN	Uncertain significance	-1	RCV003002994;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982707	90982707	NC_000008.10:g.90982707T>C	-
NM_002485.5(NBN):c.779A>C (p.His260Pro)	4683	NBN	Uncertain significance	1328090653	RCV000772586\|RCV001055654;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982709	90982709	NC_000008.10:g.90982709T>G	-
NM_002485.5(NBN):c.778C>A (p.His260Asn)	4683	NBN	Uncertain significance	767013459	RCV001319510;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982710	90982710	90982710	-
NM_002485.5(NBN):c.777A>G (p.Glu259=)	4683	NBN	Likely benign	876660469	RCV000220156\|RCV000874990;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982711	90982711	8:g.90982711T>C	ClinGen:CA10578793	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.769GAA[2] (p.Glu259del)	4683	NBN	Uncertain significance	2129830023	RCV001956650;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982711	90982713	90982710	-
NM_002485.5(NBN):c.775G>A (p.Glu259Lys)	4683	NBN	Uncertain significance	201559159	RCV000160783\|RCV000212736\|RCV000204371\|RCV000764784\|RCV000781645\|RCV003407596\|RCV003467261;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90982713	90982713	NC_000008.10:g.90982713C>T	ClinGen:CA299602	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.775G>C (p.Glu259Gln)	4683	NBN	Uncertain significance	201559159	RCV001914857;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982713	90982713	90982713	-
NM_002485.5(NBN):c.774A>G (p.Glu258=)	4683	NBN	Likely benign	1586086940	RCV000944449\|RCV001181605;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982714	90982714	8:g.90982714T>C	-
NM_002485.5(NBN):c.773A>G (p.Glu258Gly)	4683	NBN	Uncertain significance	786203380	RCV000166661\|RCV000481585\|RCV000636759;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982715	90982715	8:g.90982715T>C	ClinGen:CA196412	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.772G>C (p.Glu258Gln)	4683	NBN	Uncertain significance	922057169	RCV000475482\|RCV000568106\|RCV001174792\|RCV003470492;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90982716	90982716	NC_000008.10:g.90982716C>G	ClinGen:CA16612546	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.772G>A (p.Glu258Lys)	4683	NBN	Uncertain significance	922057169	RCV001990501;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982716	90982716	90982716	-
NM_002485.5(NBN):c.770A>T (p.Glu257Val)	4683	NBN	Uncertain significance	2129830212	RCV001881240;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982718	90982718	90982718	-
NM_002485.5(NBN):c.769G>A (p.Glu257Lys)	4683	NBN	Uncertain significance	878854516	RCV000227599;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982719	90982719	8:g.90982719C>T	ClinGen:CA10582602	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.769G>T (p.Glu257Ter)	4683	NBN	Pathogenic/Likely pathogenic	-1	RCV002306733\|RCV003308128;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982719	90982719	90982719	-
NM_002485.5(NBN):c.767A>G (p.Asn256Ser)	4683	NBN	Uncertain significance	1554563994	RCV000555956\|RCV000580984;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982721	90982721	NC_000008.10:g.90982721T>C	ClinGen:CA371658719	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.765G>C (p.Glu255Asp)	4683	NBN	Uncertain significance	2129830286	RCV001751784\|RCV001801004;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982723	90982723	90982723	-
NM_002485.5(NBN):c.765G>A (p.Glu255=)	4683	NBN	Likely benign	-1	RCV002867820;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982723	90982723		-
NM_002485.5(NBN):c.758C>T (p.Thr253Ile)	4683	NBN	Conflicting interpretations of pathogenicity	61754967	RCV000115805\|RCV000121624\|RCV000168183\|RCV000656925;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90982730	90982730	8:g.90982730G>A	ClinGen:CA160999	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.757A>G (p.Thr253Ala)	4683	NBN	Uncertain significance	765602971	RCV000636757\|RCV002388044;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982731	90982731	NC_000008.10:g.90982731T>C	ClinGen:CA4802889	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.754A>G (p.Ile252Val)	4683	NBN	Uncertain significance	587782746	RCV000132252\|RCV001339147;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982734	90982734	8:g.90982734T>C	ClinGen:CA169496	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.753G>C (p.Leu251Phe)	4683	NBN	Uncertain significance	2129830525	RCV002016130;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982735	90982735	90982735	-
NM_002485.5(NBN):c.752T>C (p.Leu251Ser)	4683	NBN	Uncertain significance	2129830556	RCV002018172;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982736	90982736	90982736	-
NM_002485.5(NBN):c.751T>C (p.Leu251=)	4683	NBN	Likely benign	1811463703	RCV001189803\|RCV002069086;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982737	90982737	8:g.90982737A>G	-
NM_002485.5(NBN):c.750G>T (p.Arg250Ser)	4683	NBN	Uncertain significance	758852942	RCV000483869\|RCV000701954\|RCV000775389;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982738	90982738	8:g.90982738C>A	ClinGen:CA4802890	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.750G>A (p.Arg250=)	4683	NBN	Likely benign	758852942	RCV000567296\|RCV001584387\|RCV001439131\|RCV002225670;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	8	90982738	90982738	8:g.90982738C>T	ClinGen:CA461830883	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.747T>A (p.Ala249=)	4683	NBN	Likely benign	780134747	RCV001397936\|RCV003159792;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982741	90982741	NC_000008.10:g.90982741A>T	ClinGen:CA461830887	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.744A>G (p.Glu248=)	4683	NBN	Likely benign	1554564012	RCV000574525\|RCV001492516;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982744	90982744	8:g.90982744T>C	ClinGen:CA461830890	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)	4683	NBN	Pathogenic/Likely pathogenic	864309670	RCV000007364\|RCV000657237\|RCV001525344;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982745	90982746	8:g.90982745_90982746insCC	ClinGen:CA278582,OMIM:602667.0010	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.742G>T (p.Glu248Ter)	4683	NBN	Pathogenic	1811464271	RCV001940815;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982746	90982746	90982746	-
NM_002485.5(NBN):c.741G>A (p.Gly247=)	4683	NBN	Likely benign	747021126	RCV000444442\|RCV000580479\|RCV001398642;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982747	90982747	8:g.90982747C>T	ClinGen:CA4802892	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.738T>C (p.Gly246=)	4683	NBN	Likely benign	2129830935	RCV001465225\|RCV002384744;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982750	90982750	90982750	-
NM_002485.5(NBN):c.737G>A (p.Gly246Asp)	4683	NBN	Uncertain significance	1554564023	RCV000566197\|RCV001056854;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982751	90982751	NC_000008.10:g.90982751C>T	ClinGen:CA371658825	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.737del (p.Gly246fs)	4683	NBN	Pathogenic/Likely pathogenic	1811464751	RCV001269127;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982751	90982751	8:g.90982751_90982751del	-
NM_002485.5(NBN):c.736G>T (p.Gly246Cys)	4683	NBN	Uncertain significance	-1	RCV003030313;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982752	90982752	NC_000008.10:g.90982752C>A	-
NM_002485.5(NBN):c.731T>C (p.Phe244Ser)	4683	NBN	Uncertain significance	1586087079	RCV000810698;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982757	90982757	8:g.90982757A>G	-
NM_002485.5(NBN):c.729C>G (p.Val243=)	4683	NBN	Likely benign	-1	RCV003059232;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982759	90982759		-
NM_002485.5(NBN):c.727G>C (p.Val243Leu)	4683	NBN	Uncertain significance	786203253	RCV000530856\|RCV000571357\|RCV002506321;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967	8	90982761	90982761	NC_000008.10:g.90982761C>G	ClinGen:CA371658850	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.724G>A (p.Val242Ile)	4683	NBN	Uncertain significance	1434146100	RCV001026199\|RCV001207637;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982764	90982764	8:g.90982764C>T	-
NM_002485.5(NBN):c.723A>C (p.Ala241=)	4683	NBN	Likely benign	1554564031	RCV001443647;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982765	90982765	8:g.90982765T>G	-
NM_002485.5(NBN):c.721_722insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGNNNNNNN	4683	NBN	Pathogenic	-1	RCV002811218;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982766	90982767	NC_000008.10:g.90982782_90982783insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACTCAATTTCTT	-
NM_002485.5(NBN):c.722C>T (p.Ala241Val)	4683	NBN	Uncertain significance	-1	RCV003030157;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982766	90982766	NC_000008.10:g.90982766G>A	-
NM_002485.5(NBN):c.721G>A (p.Ala241Thr)	4683	NBN	Uncertain significance	587781333	RCV000129086\|RCV000467707\|RCV000480756;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90982767	90982767	8:g.90982767C>T	ClinGen:CA163785	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.721G>T (p.Ala241Ser)	4683	NBN	Uncertain significance	587781333	RCV001066743;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982767	90982767	8:g.90982767C>A	-
NM_002485.5(NBN):c.721G>C (p.Ala241Pro)	4683	NBN	Uncertain significance	587781333	RCV001569807\|RCV002570773\|RCV003161111;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982767	90982767	90982767	-
NM_002485.5(NBN):c.720C>T (p.Ser240=)	4683	NBN	Likely benign	781323381	RCV000163086\|RCV000200390\|RCV000445191\|RCV001080045;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982768	90982768	8:g.90982768G>A	ClinGen:CA187412	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.719C>T (p.Ser240Phe)	4683	NBN	Uncertain significance	1554564033	RCV001298778\|RCV002375350;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982769	90982769	90982769	-
NM_002485.5(NBN):c.715A>C (p.Ser239Arg)	4683	NBN	Uncertain significance	587781868	RCV000130185\|RCV000480469\|RCV000636708;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982773	90982773	8:g.90982773T>G	ClinGen:CA165897	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.715A>G (p.Ser239Gly)	4683	NBN	Uncertain significance	587781868	RCV001244645;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982773	90982773	8:g.90982773T>C	-
NM_002485.5(NBN):c.714G>T (p.Leu238Phe)	4683	NBN	Uncertain significance	1811466265	RCV001306319;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982774	90982774	90982774	-
NM_002485.5(NBN):c.713T>C (p.Leu238Ser)	4683	NBN	Uncertain significance	1358736677	RCV001890225\|RCV002361147;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982775	90982775	90982775	-
NM_002485.5(NBN):c.712T>C (p.Leu238=)	4683	NBN	Likely benign	748400884	RCV000431926\|RCV001405226;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982776	90982776	8:g.90982776A>G	ClinGen:CA4802893	CN169374 not specified;
NM_002485.5(NBN):c.710A>G (p.Lys237Arg)	4683	NBN	Uncertain significance	2129831599	RCV001983303;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982778	90982778	90982778	-
NM_002485.5(NBN):c.708G>T (p.Lys236Asn)	4683	NBN	Uncertain significance	1811466776	RCV001325281\|RCV002366200;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90982780	90982780	90982780	-
NM_002485.5(NBN):c.707A>G (p.Lys236Arg)	4683	NBN	Uncertain significance	1811466882	RCV001213262;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982781	90982781	8:g.90982781T>C	-
NM_002485.5(NBN):c.706A>G (p.Lys236Glu)	4683	NBN	Uncertain significance	1060503482	RCV000468446\|RCV000569502\|RCV001575608;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90982782	90982782	NC_000008.10:g.90982782T>C	ClinGen:CA16612547	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.705T>A (p.His235Gln)	4683	NBN	Uncertain significance	1586087184	RCV001025982\|RCV002551946;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982783	90982783	8:g.90982783A>T	-
NM_002485.5(NBN):c.705T>G (p.His235Gln)	4683	NBN	Uncertain significance	-1	RCV003052563;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982783	90982783	NC_000008.10:g.90982783A>C	-
NM_002485.5(NBN):c.704A>G (p.His235Arg)	4683	NBN	Uncertain significance	769519885	RCV000580946\|RCV001222101;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982784	90982784	NC_000008.10:g.90982784T>C	ClinGen:CA4802894	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.703C>G (p.His235Asp)	4683	NBN	Uncertain significance	1554564044	RCV000561396\|RCV001241645;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982785	90982785	8:g.90982785G>C	ClinGen:CA371658903	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.703C>T (p.His235Tyr)	4683	NBN	Uncertain significance	1554564044	RCV000565872\|RCV001339647\|RCV003470832;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90982785	90982785	8:g.90982785G>A	ClinGen:CA371658904	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.703-3dup	4683	NBN	Conflicting interpretations of pathogenicity	1811467593	RCV001242262\|RCV002225810;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	8	90982787	90982788	8:g.90982787_90982788insA	-
NM_002485.5(NBN):c.703-3T>C	4683	NBN	Conflicting interpretations of pathogenicity	876659566	RCV000216120\|RCV000615655\|RCV000809078;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982788	90982788	8:g.90982788A>G	ClinGen:CA10578794	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.703-4T>C	4683	NBN	Likely benign	2129832051	RCV001422581;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982789	90982789	90982789	-
NM_002485.5(NBN):c.703-6T>G	4683	NBN	Uncertain significance	1563560265	RCV000699893;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982791	90982791	8:g.90982791A>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.703-8A>T	4683	NBN	Likely benign	1563560271	RCV002067265;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982793	90982793	NC_000008.10:g.90982793T>A	-
NM_002485.5(NBN):c.703-9C>T	4683	NBN	Likely benign	1586087235	RCV001483852;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982794	90982794	8:g.90982794G>A	-
NM_002485.5(NBN):c.703-12T>A	4683	NBN	Likely benign	-1	RCV003033569;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982797	90982797	NC_000008.10:g.90982797A>T	-
NM_002485.5(NBN):c.703-13C>A	4683	NBN	Likely benign	2129832119	RCV002188042;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982798	90982798	90982798	-
NM_002485.5(NBN):c.703-13C>T	4683	NBN	Likely benign	2129832119	RCV002089474;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982798	90982798	90982798	-
NM_002485.5(NBN):c.703-14C>T	4683	NBN	Likely benign	1411178267	RCV000605399\|RCV000679468\|RCV002061885;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982799	90982799	NC_000008.10:g.90982799G>A	ClinGen:CA583843922	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.703-17T>C	4683	NBN	Likely benign	1057523604	RCV000422422\|RCV002059968;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982802	90982802	8:g.90982802A>G	ClinGen:CA16605517	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.703-18G>A	4683	NBN	Benign	769418	RCV000243317\|RCV000669127\|RCV001610629\|RCV002225564\|RCV003316397;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:H	8	90982803	90982803	8:g.90982803C>T	ClinGen:CA4802895	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.703-20dup	4683	NBN	Benign	1811468528	RCV003106153;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90982804	90982805	8:g.90982804_90982805insT	-
NM_002485.5(NBN):c.702+16_702+17delinsAA	4683	NBN	Likely benign	2129836999	RCV002100315;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983384	90983385	90983384	-
NM_002485.5(NBN):c.702+16G>C	4683	NBN	Benign/Likely benign	2272581	RCV000219336\|RCV002057225;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983385	90983385	NC_000008.10:g.90983385C>G	ClinGen:CA4802907	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.702+15A>G	4683	NBN	Likely benign	900872637	RCV002068241;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983386	90983386	8:g.90983386T>C	-
NM_002485.5(NBN):c.702+13T>C	4683	NBN	Likely benign	781303760	RCV002187549;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983388	90983388	90983388	-
NM_002485.5(NBN):c.702+9G>A	4683	NBN	Conflicting interpretations of pathogenicity	748373099	RCV000506857\|RCV000581237\|RCV000679467\|RCV001085475\|RCV001355731;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0007254,MedGen:C0006142	8	90983392	90983392	NC_000008.10:g.90983392C>T	ClinGen:CA4802910	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.702+8T>C	4683	NBN	Conflicting interpretations of pathogenicity	1563561325	RCV000781637\|RCV001491898;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983393	90983393	NC_000008.10:g.90983393A>G	-
NM_002485.5(NBN):c.702+7A>G	4683	NBN	Likely benign	864622602	RCV000205440;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983394	90983394	8:g.90983394T>C	ClinGen:CA349605	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.702+7A>C	4683	NBN	Likely benign	864622602	RCV001431685;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983394	90983394	90983394	-
NM_002485.5(NBN):c.702+4del	4683	NBN	Uncertain significance	1554564199	RCV000575679\|RCV002526788;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983397	90983397	NC_000008.10:g.90983398del	ClinGen:CA658657806	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.702+3A>G	4683	NBN	Uncertain significance	1586088320	RCV001025935\|RCV002550923;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983398	90983398	8:g.90983398T>C	-
NM_002485.5(NBN):c.702+2T>C	4683	NBN	Likely pathogenic	1811497703	RCV001377651\|RCV003473905;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90983399	90983399	90983399	-
NM_002485.5(NBN):c.702+2T>A	4683	NBN	Likely pathogenic	1811497703	RCV001376929;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983399	90983399	90983399	-
NM_002485.5(NBN):c.702+2del	4683	NBN	Likely pathogenic	-1	RCV002858394;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983399	90983399	NC_000008.10:g.90983399del	-
NM_002485.5(NBN):c.702+1G>A	4683	NBN	Likely pathogenic	1057517104	RCV000411476\|RCV002365446\|RCV003168594;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	8	90983400	90983400	NC_000008.10:g.90983400C>T	ClinGen:CA16041210	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.702+1G>T	4683	NBN	Likely pathogenic	1057517104	RCV000481637\|RCV001203346;	N	MedGen:CN517202\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983400	90983400	8:g.90983400C>A	ClinGen:CA16618704	CN517202 not provided;
NM_002485.5(NBN):c.702+1G>C	4683	NBN	Likely pathogenic	1057517104	RCV000542087\|RCV002367818;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983400	90983400	NC_000008.10:g.90983400C>G	ClinGen:CA371658914	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.702+1del	4683	NBN	Likely pathogenic	1586088347	RCV000988086;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983400	90983400	8:g.90983400_90983400del	-
NM_002485.5(NBN):c.698_701del (p.Lys233fs)	4683	NBN	Pathogenic	587780100	RCV000115804\|RCV000193543\|RCV000212735\|RCV001354502\|RCV002498497\|RCV003467062;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotyp	8	90983402	90983405	8:g.90983402_90983405del	ClinGen:CA287949,OMIM:602667.0002	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.701A>G (p.Gln234Arg)	4683	NBN	Uncertain significance	1586088352	RCV000798336;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983402	90983402	8:g.90983402T>C	-
NM_002485.5(NBN):c.696C>T (p.Ala232=)	4683	NBN	Likely benign	566091759	RCV000569951\|RCV000525092\|RCV001712198;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90983407	90983407	8:g.90983407G>A	ClinGen:CA4802911	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.694G>A (p.Ala232Thr)	4683	NBN	Uncertain significance	878854515	RCV000231298\|RCV002365192;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983409	90983409	NC_000008.10:g.90983409C>T	ClinGen:CA10582603	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.693T>C (p.Asn231=)	4683	NBN	Likely benign	878854514	RCV000227420\|RCV002365191;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983410	90983410	NC_000008.10:g.90983410A>G	ClinGen:CA10582604	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.692A>G (p.Asn231Ser)	4683	NBN	Conflicting interpretations of pathogenicity	1309274168	RCV000773378\|RCV000809097\|RCV000999052;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90983411	90983411	NC_000008.10:g.90983411T>C	-
NM_002485.5(NBN):c.692A>C (p.Asn231Thr)	4683	NBN	Uncertain significance	1309274168	RCV000807525;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983411	90983411	8:g.90983411T>G	-
NM_002485.5(NBN):c.690G>A (p.Leu230=)	4683	NBN	Likely benign	2129837575	RCV001448045;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983413	90983413	90983413	-
NM_002485.5(NBN):c.687T>G (p.Phe229Leu)	4683	NBN	Uncertain significance	876660152	RCV000216007\|RCV001223538;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983416	90983416	8:g.90983416A>C	ClinGen:CA10578795	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.684A>G (p.Ile228Met)	4683	NBN	Uncertain significance	1064793416	RCV000484512\|RCV000798099;	N	MedGen:CN517202\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983419	90983419	8:g.90983419T>C	ClinGen:CA16618705	CN169374 not specified;
NM_002485.5(NBN):c.683T>G (p.Ile228Arg)	4683	NBN	Uncertain significance	777460725	RCV000165931\|RCV000198580\|RCV000587016\|RCV000764785\|RCV000855653\|RCV003468761;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00	8	90983420	90983420	8:g.90983420A>C	ClinGen:CA194560	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.682A>G (p.Ile228Val)	4683	NBN	Uncertain significance	1204337347	RCV001226963;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983421	90983421	8:g.90983421T>C	ClinGen:CA371658968	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.681del (p.Phe227fs)	4683	NBN	not provided	1057519586	RCV000417079;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983422	90983422	8:g.90983422_90983422del	ClinGen:CA16044375	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.680T>C (p.Phe227Ser)	4683	NBN	Uncertain significance	749025721	RCV000478980\|RCV000548804;	N	MedGen:CN517202\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983423	90983423	8:g.90983423A>G	ClinGen:CA4802912	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.680T>G (p.Phe227Cys)	4683	NBN	Uncertain significance	749025721	RCV001368374;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983423	90983423	90983423	-
NM_002485.5(NBN):c.678A>G (p.Thr226=)	4683	NBN	Likely benign	878854513	RCV000233642\|RCV000772342\|RCV001088267;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983425	90983425	NC_000008.10:g.90983425T>C	ClinGen:CA10582605	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.677C>T (p.Thr226Ile)	4683	NBN	Uncertain significance	1554564219	RCV000579800\|RCV001307945;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983426	90983426	8:g.90983426G>A	ClinGen:CA371658993	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.676del (p.Thr226fs)	4683	NBN	Pathogenic	1563561558	RCV000704393\|RCV001025628;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983427	90983427	8:g.90983427_90983427del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.675A>G (p.Lys225=)	4683	NBN	Likely benign	2129837838	RCV002174563;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983428	90983428	90983428	-
NM_002485.5(NBN):c.673A>G (p.Lys225Glu)	4683	NBN	Uncertain significance	2129837868	RCV001905136\|RCV002361116;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983430	90983430	90983430	-
NM_002485.5(NBN):c.672G>A (p.Gly224=)	4683	NBN	Likely benign	1554564220	RCV002065102;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983431	90983431	NC_000008.10:g.90983431C>T	ClinGen:CA461831027	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.671G>A (p.Gly224Glu)	4683	NBN	Uncertain significance	199845467	RCV000129875\|RCV000222691\|RCV000196737\|RCV001778750\|RCV003407545\|RCV003467123;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:1	8	90983432	90983432	8:g.90983432C>T	ClinGen:CA165270	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.668A>G (p.Lys223Arg)	4683	NBN	Uncertain significance	530438634	RCV000561794\|RCV001858318;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983435	90983435	8:g.90983435T>C	ClinGen:CA371659032	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.667_668insTTTATATTTTTATTATATAAAATATAATAAAGAAAACATTTATATTTTATAATATAAAAATATTATATTAT	4683	NBN	Pathogenic	-1	RCV002663091;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983435	90983436	NC_000008.10:g.90983436TA[3]ATGTTTTCTTTATTATATTTTATATATAATATAATATTTTTATATTATAAAATATAAATGTTTTCTTTATTATATTTTATATAATAAAAATATAAAT[1]	-
NM_002485.5(NBN):c.667A>C (p.Lys223Gln)	4683	NBN	Uncertain significance	1811500671	RCV001226080;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983436	90983436	8:g.90983436T>G	-
NM_002485.5(NBN):c.667A>G (p.Lys223Glu)	4683	NBN	Uncertain significance	-1	RCV002366995\|RCV003103318;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983436	90983436	90983436	-
NM_002485.5(NBN):c.666C>T (p.Phe222=)	4683	NBN	Conflicting interpretations of pathogenicity	876661098	RCV000220946\|RCV001183517\|RCV001273693\|RCV002509326;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90983437	90983437	8:g.90983437G>A	ClinGen:CA10577368	CN169374 not specified;
NM_002485.5(NBN):c.664T>C (p.Phe222Leu)	4683	NBN	Uncertain significance	541992192	RCV000123219\|RCV000129030\|RCV000212734\|RCV002477323\|RCV003226205\|RCV003467094;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00	8	90983439	90983439	8:g.90983439A>G	ClinGen:CA293935	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.663C>T (p.Ile221=)	4683	NBN	Likely benign	372705975	RCV000164516\|RCV000229453\|RCV001697157;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90983440	90983440	8:g.90983440G>A	ClinGen:CA191151	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.662T>C (p.Ile221Thr)	4683	NBN	Uncertain significance	1187082186	RCV001208269\|RCV003237948\|RCV003343926;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983441	90983441	NC_000008.10:g.90983441A>G	ClinGen:CA371659059	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.657_661del (p.Lys219fs)	4683	NBN	Conflicting interpretations of pathogenicity	587776650	RCV000007353\|RCV000007354\|RCV000133576\|RCV000212733\|RCV000415248\|RCV001270991\|RCV001357671\|RCV001391203\|RCV001535498\|RCV001574072\|RCV002280859\|RCV003224855\|RCV003389666\|RCV003460432;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000252,Human Phenotyp	8	90983442	90983446	NC_000008.10:g.90983445_90983449del	ClinGen:CA254009,OMIM:602667.0001	C2676676 604370 Breast-ovarian cancer, familial 1;
NM_002485.5(NBN):c.661A>G (p.Ile221Val)	4683	NBN	Uncertain significance	2129838150	RCV001985852;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983442	90983442	90983442	-
NM_002485.5(NBN):c.660A>G (p.Gln220=)	4683	NBN	Likely benign	876658674	RCV000214158\|RCV000636800\|RCV001668386;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90983443	90983443	8:g.90983443T>C	ClinGen:CA10578796	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.658_660del (p.Gln220del)	4683	NBN	Uncertain significance	1563561699	RCV000701215;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983443	90983445	8:g.90983443_90983445del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.658C>G (p.Gln220Glu)	4683	NBN	Uncertain significance	876659811	RCV000221411\|RCV000477515\|RCV001575753;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90983445	90983445	8:g.90983445G>C	ClinGen:CA10578797	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.657A>G (p.Lys219=)	4683	NBN	Likely benign	745768664	RCV000931447\|RCV001025429;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983446	90983446	8:g.90983446T>C	-
NM_002485.5(NBN):c.656A>G (p.Lys219Arg)	4683	NBN	Uncertain significance	376951288	RCV000636770\|RCV001192339;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983447	90983447	NC_000008.10:g.90983447T>C	ClinGen:CA4802914	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.655A>C (p.Lys219Gln)	4683	NBN	Uncertain significance	730881846	RCV000160782\|RCV001045190\|RCV002362851\|RCV003467260;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90983448	90983448	NC_000008.10:g.90983448T>G	ClinGen:CA299599	CN517202 not provided;
NM_002485.5(NBN):c.654A>G (p.Arg218=)	4683	NBN	Likely benign	-1	RCV003056405;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983449	90983449		-
NM_002485.5(NBN):c.653G>T (p.Arg218Ile)	4683	NBN	Uncertain significance	786202250	RCV000164968\|RCV000693014;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983450	90983450	8:g.90983450C>A	ClinGen:CA192192	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.649G>C (p.Glu217Gln)	4683	NBN	Uncertain significance	760275251	RCV000482311\|RCV001324222\|RCV002356787;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983454	90983454	8:g.90983454C>G	ClinGen:CA4802915	CN169374 not specified;
NM_002485.5(NBN):c.648G>A (p.Gln216=)	4683	NBN	Likely benign	786201883	RCV000164392\|RCV001471839;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983455	90983455	8:g.90983455C>T	ClinGen:CA190843	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.646C>A (p.Gln216Lys)	4683	NBN	Uncertain significance	769416	RCV000688542\|RCV001025298;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983457	90983457	NC_000008.10:g.90983457G>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.645G>T (p.Arg215=)	4683	NBN	Likely benign	2129838464	RCV001416896;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983458	90983458	90983458	-
NM_002485.5(NBN):c.644G>A (p.Arg215Gln)	4683	NBN	Uncertain significance	61753718	RCV000130586\|RCV000461583\|RCV000587953\|RCV001818316\|RCV003467148;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90983459	90983459	8:g.90983459C>T	ClinGen:CA166707	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)	4683	NBN	Conflicting interpretations of pathogenicity	34767364	RCV000007363\|RCV000115802\|RCV000121621\|RCV000487932;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	8	90983460	90983460	8:g.90983460G>A	ClinGen:CA160990,UniProtKB:O60934#VAR_025799,OMIM:602667.0009	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.642A>G (p.Gly214=)	4683	NBN	Likely benign	763363235	RCV000636789\|RCV002360545;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983461	90983461	8:g.90983461T>C	ClinGen:CA4802916	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.640G>C (p.Gly214Arg)	4683	NBN	Uncertain significance	1554564269	RCV000562538\|RCV001034793\|RCV002222555;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90983463	90983463	8:g.90983463C>G	ClinGen:CA371659161	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.639A>C (p.Ser213=)	4683	NBN	Likely benign	1335414652	RCV002131562;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983464	90983464	90983464	-
NM_002485.5(NBN):c.636G>C (p.Leu212=)	4683	NBN	Likely benign	1811504066	RCV002068504;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983467	90983467	8:g.90983467C>G	-
NM_002485.5(NBN):c.635T>G (p.Leu212Arg)	4683	NBN	Uncertain significance	2129838690	RCV001954617;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983468	90983468	90983468	-
NM_002485.5(NBN):c.635T>C (p.Leu212Pro)	4683	NBN	Uncertain significance	-1	RCV003050301;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983468	90983468	NC_000008.10:g.90983468A>G	-
NM_002485.5(NBN):c.634C>A (p.Leu212Met)	4683	NBN	Uncertain significance	1563561889	RCV001296163\|RCV002366118;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983469	90983469	90983469	-
NM_002485.5(NBN):c.633T>A (p.Asp211Glu)	4683	NBN	Uncertain significance	377700348	RCV000128984\|RCV000199629\|RCV000486252\|RCV003315230\|RCV003474742;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:C5669877\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90983470	90983470	8:g.90983470A>T	ClinGen:CA163608	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.633T>C (p.Asp211=)	4683	NBN	Likely benign	377700348	RCV001475829;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983470	90983470	90983470	-
NM_002485.5(NBN):c.631G>C (p.Asp211His)	4683	NBN	Uncertain significance	752104183	RCV001025136\|RCV001862313;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983472	90983472	8:g.90983472C>G	-
NM_002485.5(NBN):c.630T>A (p.Val210=)	4683	NBN	Likely benign	2129838835	RCV002084823;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983473	90983473	90983473	-
NM_002485.5(NBN):c.628G>T (p.Val210Phe)	4683	NBN	Conflicting interpretations of pathogenicity	61754796	RCV000114880\|RCV000121622\|RCV000115801\|RCV000168062\|RCV000515300\|RCV001358247;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:000480	8	90983475	90983475	8:g.90983475C>A	UniProtKB:O60934#VAR_025798,ClinGen:CA160993	C0023449 613065 Acute lymphoid leukemia;
NM_002485.5(NBN):c.628G>C (p.Val210Leu)	4683	NBN	Uncertain significance	61754796	RCV001025091\|RCV002551916;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983475	90983475	8:g.90983475C>G	-
NM_002485.5(NBN):c.628G>A (p.Val210Ile)	4683	NBN	Uncertain significance	61754796	RCV001876175;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983475	90983475	8:g.90983475C>T	-
NM_002485.5(NBN):c.627T>C (p.Asn209=)	4683	NBN	Likely benign	767520591	RCV000570988\|RCV002060476;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983476	90983476	8:g.90983476A>G	ClinGen:CA4802918	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.626del (p.Asn209fs)	4683	NBN	Pathogenic	2129838943	RCV001958729;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983477	90983477	90983476	-
NM_002485.5(NBN):c.622A>G (p.Lys208Glu)	4683	NBN	Uncertain significance	-1	RCV002953576\|RCV003170691;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983481	90983481	NC_000008.10:g.90983481T>C	-
NM_002485.5(NBN):c.621T>C (p.Ser207=)	4683	NBN	Likely benign	876658177	RCV000219310\|RCV000587744\|RCV000636803;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983482	90983482	8:g.90983482A>G	ClinGen:CA10578798	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.620G>T (p.Ser207Ile)	4683	NBN	Uncertain significance	587780099	RCV000115800\|RCV000219658\|RCV000792329;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983483	90983483	8:g.90983483C>A	ClinGen:CA287946	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.619A>G (p.Ser207Gly)	4683	NBN	Uncertain significance	2129839074	RCV001966193;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983484	90983484	90983484	-
NM_002485.5(NBN):c.615T>C (p.Ile205=)	4683	NBN	Likely benign	2129839117	RCV001492105\|RCV003284351;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983488	90983488	90983488	-
NM_002485.5(NBN):c.614T>C (p.Ile205Thr)	4683	NBN	Uncertain significance	786203215	RCV000166430\|RCV001217810;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983489	90983489	8:g.90983489A>G	ClinGen:CA195851	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.613A>G (p.Ile205Val)	4683	NBN	Uncertain significance	730881845	RCV000160781\|RCV000212732\|RCV000470960\|RCV003467259;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90983490	90983490	NC_000008.10:g.90983490T>C	ClinGen:CA299596	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.611C>G (p.Ser204Cys)	4683	NBN	Uncertain significance	876659478	RCV000219068\|RCV000687695;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983492	90983492	8:g.90983492G>C	ClinGen:CA10578799	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.611C>T (p.Ser204Phe)	4683	NBN	Uncertain significance	876659478	RCV002049428;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983492	90983492	90983492	-
NM_002485.5(NBN):c.610T>C (p.Ser204Pro)	4683	NBN	Uncertain significance	2129839225	RCV001896553;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983493	90983493	90983493	-
NM_002485.5(NBN):c.609A>G (p.Pro203=)	4683	NBN	Likely benign	778083915	RCV001454386;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983494	90983494	90983494	-
NM_002485.5(NBN):c.607C>A (p.Pro203Thr)	4683	NBN	Uncertain significance	1554564291	RCV000568663\|RCV001247962;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983496	90983496	8:g.90983496G>T	ClinGen:CA371659298	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.606A>G (p.Glu202=)	4683	NBN	Likely benign	1554564292	RCV002201010;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983497	90983497	90983497	-
NM_002485.5(NBN):c.600TGA[1] (p.Asp201del)	4683	NBN	Uncertain significance	755050499	RCV001047446;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983498	90983500	8:g.90983498_90983500del	-
NM_002485.5(NBN):c.604G>T (p.Glu202Ter)	4683	NBN	Pathogenic	1811506628	RCV001067860;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983499	90983499	8:g.90983499C>A	-
NM_002485.5(NBN):c.604G>A (p.Glu202Lys)	4683	NBN	Uncertain significance	1811506628	RCV001238965\|RCV002357020;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983499	90983499	8:g.90983499C>T	-
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)	4683	NBN	Pathogenic/Likely pathogenic	1554564297	RCV000572469\|RCV000700009\|RCV001328957\|RCV001779012\|RCV002526831\|RCV003476333;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967	8	90983500	90983512	NC_000008.10:g.90983500_90983512delinsCAA	ClinGen:CA658657807	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.603T>G (p.Asp201Glu)	4683	NBN	Uncertain significance	2129839451	RCV001871092;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983500	90983500	90983500	-
NM_002485.5(NBN):c.602A>T (p.Asp201Val)	4683	NBN	Uncertain significance	587780098	RCV000115799\|RCV000561072\|RCV000693128;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983501	90983501	8:g.90983501T>A	ClinGen:CA287943	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.602A>G (p.Asp201Gly)	4683	NBN	Uncertain significance	587780098	RCV000562999\|RCV000636721\|RCV001568159\|RCV003470829;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90983501	90983501	NC_000008.10:g.90983501T>C	ClinGen:CA4802922	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.601G>C (p.Asp201His)	4683	NBN	Uncertain significance	757186245	RCV001202437\|RCV002356873;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983502	90983502	8:g.90983502C>G	-
NM_002485.5(NBN):c.601G>A (p.Asp201Asn)	4683	NBN	Uncertain significance	757186245	RCV001338503\|RCV001773674\|RCV003346487;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983502	90983502	90983502	-
NM_002485.5(NBN):c.599T>C (p.Leu200Pro)	4683	NBN	Uncertain significance	-1	RCV002301117;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983504	90983504	90983504	-
NM_002485.5(NBN):c.598C>T (p.Leu200Phe)	4683	NBN	Uncertain significance	2129839627	RCV001373336\|RCV001820077;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90983505	90983505	90983505	-
NM_002485.5(NBN):c.596C>G (p.Pro199Arg)	4683	NBN	Conflicting interpretations of pathogenicity	730881844	RCV000160780\|RCV000205060\|RCV000726896\|RCV002229765\|RCV003474833;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90983507	90983507	NC_000008.10:g.90983507G>C	ClinGen:CA299593	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.595C>T (p.Pro199Ser)	4683	NBN	Conflicting interpretations of pathogenicity	587780097	RCV000115798\|RCV000235189\|RCV000461206\|RCV000515203;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00	8	90983508	90983508	8:g.90983508G>A	ClinGen:CA287940	C0023449 613065 Acute lymphoid leukemia;
NM_002485.5(NBN):c.593C>T (p.Pro198Leu)	4683	NBN	Uncertain significance	951997505	RCV000528152\|RCV000565625\|RCV000759888\|RCV003470741;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90983510	90983510	NC_000008.10:g.90983510G>A	ClinGen:CA181276835	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.593C>G (p.Pro198Arg)	4683	NBN	Uncertain significance	951997505	RCV001206381\|RCV003433082;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90983510	90983510	8:g.90983510G>C	-
NM_002485.5(NBN):c.592C>T (p.Pro198Ser)	4683	NBN	Uncertain significance	1554564306	RCV000562640\|RCV000636772;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983511	90983511	8:g.90983511G>A	ClinGen:CA371659324	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.590dup (p.Tyr197Ter)	4683	NBN	Likely pathogenic	1554564309	RCV000666402;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983512	90983513	8:g.90983512_90983513insT	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.590A>G (p.Tyr197Cys)	4683	NBN	Uncertain significance	1563562194	RCV000690999\|RCV001191345;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983513	90983513	NC_000008.10:g.90983513T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.589dup (p.Tyr197fs)	4683	NBN	Pathogenic/Likely pathogenic	1586088924	RCV001024655\|RCV001391000\|RCV003467683\|RCV003329365;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88\|MedGen:C3661900	8	90983513	90983514	8:g.90983513_90983514insA	-
NM_002485.5(NBN):c.590A>C (p.Tyr197Ser)	4683	NBN	Uncertain significance	1563562194	RCV001067335\|RCV002355090;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983513	90983513	8:g.90983513T>G	-
NM_002485.5(NBN):c.589del (p.Tyr197fs)	4683	NBN	Likely pathogenic	1586088924	RCV001581906\|RCV001824177;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983514	90983514	90983513	-
NM_002485.5(NBN):c.588T>C (p.Phe196=)	4683	NBN	Benign/Likely benign	745821999	RCV000166036\|RCV000475863\|RCV001711445;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90983515	90983515	8:g.90983515A>G	ClinGen:CA194828	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.587T>A (p.Phe196Tyr)	4683	NBN	Uncertain significance	1811508521	RCV001322493\|RCV003166874;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983516	90983516	90983516	-
NM_002485.5(NBN):c.585-1_585delinsC	4683	NBN	Likely pathogenic	786203662	RCV000167070\|RCV001240142\|RCV001778765\|RCV003474887;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90983518	90983519	8:g.90983519_90983519del	ClinGen:CA197421	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.585-1G>A	4683	NBN	Likely pathogenic	1394578008	RCV000666840\|RCV001592845;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN517202	8	90983519	90983519	8:g.90983519C>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.585-2A>G	4683	NBN	Likely pathogenic	772005832	RCV000700477\|RCV002352187\|RCV003465613;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90983520	90983520	8:g.90983520T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.585-3C>T	4683	NBN	Uncertain significance	779430868	RCV000206379\|RCV001024602\|RCV003133175;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90983521	90983521	8:g.90983521G>A	ClinGen:CA350419	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.585-3C>A	4683	NBN	Uncertain significance	779430868	RCV000812227;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983521	90983521	8:g.90983521G>T	-
NM_002485.5(NBN):c.585-3del	4683	NBN	Uncertain significance	2129839997	RCV001899345;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983521	90983521	90983520	-
NM_002485.5(NBN):c.585-5T>C	4683	NBN	Conflicting interpretations of pathogenicity	1586088968	RCV001505889\|RCV001525104;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90983523	90983523	90983523	-
NM_002485.5(NBN):c.585-7T>C	4683	NBN	Likely benign	-1	RCV002884997;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983525	90983525	NC_000008.10:g.90983525A>G	-
NM_002485.5(NBN):c.585-13A>G	4683	NBN	Likely benign	980972703	RCV002060553;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983531	90983531	8:g.90983531T>C	ClinGen:CA181276865	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.585-15T>C	4683	NBN	Likely benign	746465355	RCV000440102\|RCV002063574;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983533	90983533	8:g.90983533A>G	ClinGen:CA4802925	CN169374 not specified;
NM_002485.5(NBN):c.585-16T>A	4683	NBN	Likely benign	2129840149	RCV002093897;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983534	90983534	90983534	-
NM_002485.5(NBN):c.585-18C>T	4683	NBN	Likely benign	1811509460	RCV002067871;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983536	90983536	8:g.90983536G>A	-
NM_002485.5(NBN):c.585-20T>C	4683	NBN	Likely benign	1162395270	RCV002107243;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90983538	90983538	90983538	-
NM_002485.5(NBN):c.584+20T>C	4683	NBN	Likely benign	2129887517	RCV002153629;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990428	90990428	90990428	-
NM_002485.5(NBN):c.584+19A>G	4683	NBN	Likely benign	1187374555	RCV001859157;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990429	90990429	8:g.90990429T>C	-
NM_002485.5(NBN):c.584+19A>T	4683	NBN	Likely benign	1187374555	RCV002097511;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990429	90990429	90990429	-
NM_002485.5(NBN):c.584+15T>G	4683	NBN	Likely benign	-1	RCV003020988;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990433	90990433	NC_000008.10:g.90990433A>C	-
NC_000008.11:g.(?_89978210)_(89980903_?)del	4683	NBN	Likely pathogenic	-1	RCV000708287;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990438	90993131		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NC_000008.11:g.(?_89978210)_(89984561_?)dup	4683	NBN	Uncertain significance	-1	RCV001031546;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990438	90996789	-1	-
NC_000008.11:g.(?_89978210)_(89984571_?)del	4683	NBN	Pathogenic	-1	RCV001033423;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990438	90996799	-1	-
NC_000008.10:g.(?_90990438)_(90990561_?)del	4683	NBN	Pathogenic	-1	RCV001385270;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990438	90990561	-1	-
NM_002485.5(NBN):c.584+10G>A	4683	NBN	Likely benign	780093985	RCV001489076;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990438	90990438	90990438	-
NM_002485.5(NBN):c.584+9T>C	4683	NBN	Conflicting interpretations of pathogenicity	746913991	RCV000459632\|RCV000443854\|RCV001083819;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990439	90990439	8:g.90990439A>G	ClinGen:CA4802943	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.584+9T>A	4683	NBN	Likely benign	746913991	RCV000601206\|RCV001489403;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990439	90990439	8:g.90990439A>T	ClinGen:CA658797118	CN169374 not specified;
NM_002485.5(NBN):c.584+7_584+9del	4683	NBN	Likely benign	1586101102	RCV000930708;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990439	90990441	8:g.90990439_90990441del	-
NM_002485.5(NBN):c.584+8A>G	4683	NBN	Likely benign	1554566597	RCV002061884;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990440	90990440	NC_000008.10:g.90990440T>C	ClinGen:CA658683516	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.584+7T>A	4683	NBN	Likely benign	1057523869	RCV000428061\|RCV000988087;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990441	90990441	8:g.90990441A>T	ClinGen:CA16605428	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.584+6T>C	4683	NBN	Conflicting interpretations of pathogenicity	1554566602	RCV000612983\|RCV000698403\|RCV001284317;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90990442	90990442	8:g.90990442A>G	ClinGen:CA658797119	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.584+5A>G	4683	NBN	Conflicting interpretations of pathogenicity	1309889719	RCV000565579\|RCV000636761;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990443	90990443	8:g.90990443T>C	ClinGen:CA583375382	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.584+3A>G	4683	NBN	Uncertain significance	587782407	RCV000131444\|RCV000636786\|RCV003225031;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90990445	90990445	8:g.90990445T>C	ClinGen:CA168167	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.584+2T>C	4683	NBN	Pathogenic/Likely pathogenic	1586101154	RCV001004533\|RCV001024591\|RCV003467575;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90990446	90990446	8:g.90990446A>G	-
NM_002485.5(NBN):c.584+1G>A	4683	NBN	Likely pathogenic	1811862598	RCV001185847\|RCV001862922;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990447	90990447	8:g.90990447C>T	-
NM_002485.5(NBN):c.584G>A (p.Ser195Asn)	4683	NBN	Conflicting interpretations of pathogenicity	1811862674	RCV001310162\|RCV001368080;	N	MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370, Orphanet:145\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990448	90990448	90990448	-
NM_002485.5(NBN):c.582A>G (p.Glu194=)	4683	NBN	Likely benign	2129887820	RCV001506514;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990450	90990450	90990450	-
NM_002485.5(NBN):c.580G>A (p.Glu194Lys)	4683	NBN	Uncertain significance	1554566610	RCV000636704\|RCV002358788;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990452	90990452	8:g.90990452C>T	ClinGen:CA371660085	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.580G>T (p.Glu194Ter)	4683	NBN	Pathogenic/Likely pathogenic	1554566610	RCV001380565\|RCV002357286\|RCV003127859\|RCV003469651;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90990452	90990452	90990452	-
NM_002485.5(NBN):c.578T>C (p.Ile193Thr)	4683	NBN	Uncertain significance	1586101162	RCV000985879\|RCV001024532\|RCV001275522;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990454	90990454	8:g.90990454A>G	-
NM_002485.5(NBN):c.576A>G (p.Gln192=)	4683	NBN	Likely benign	2129887922	RCV002162035;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990456	90990456	90990456	-
NM_002485.5(NBN):c.572C>T (p.Pro191Leu)	4683	NBN	Uncertain significance	876661071	RCV000223056\|RCV000475053\|RCV001024457\|RCV003469107;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90990460	90990460	NC_000008.10:g.90990460G>A	ClinGen:CA10577369	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.571C>T (p.Pro191Ser)	4683	NBN	Uncertain significance	2129888034	RCV001979219;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990461	90990461	90990461	-
NM_002485.5(NBN):c.570T>C (p.Pro190=)	4683	NBN	Likely benign	1811863524	RCV002068188;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990462	90990462	8:g.90990462A>G	-
NM_002485.5(NBN):c.568C>T (p.Pro190Ser)	4683	NBN	Uncertain significance	1554566620	RCV001860093;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990464	90990464	NC_000008.10:g.90990464G>A	ClinGen:CA371660133	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.568C>G (p.Pro190Ala)	4683	NBN	Uncertain significance	1554566620	RCV001368257\|RCV002350704;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990464	90990464	90990464	-
NM_002485.5(NBN):c.567G>A (p.Gln189=)	4683	NBN	Conflicting interpretations of pathogenicity	1203807404	RCV001161378;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990465	90990465	8:g.90990465C>T	-
NM_002485.5(NBN):c.565C>T (p.Gln189Ter)	4683	NBN	Pathogenic/Likely pathogenic	1198614767	RCV001853931\|RCV003465314;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90990467	90990467	8:g.90990467G>A	ClinGen:CA371660147	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.565C>G (p.Gln189Glu)	4683	NBN	Uncertain significance	1198614767	RCV001024379\|RCV001343630;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990467	90990467	8:g.90990467G>C	-
NM_002485.5(NBN):c.565del (p.Gln189fs)	4683	NBN	Pathogenic	1811864250	RCV001234160;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990467	90990467	8:g.90990467_90990467del	-
NM_002485.5(NBN):c.562A>C (p.Lys188Gln)	4683	NBN	Uncertain significance	1060503476	RCV000471532\|RCV002349979;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990470	90990470	NC_000008.10:g.90990470T>G	ClinGen:CA16612370	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.559A>C (p.Lys187Gln)	4683	NBN	Uncertain significance	1554566633	RCV000547583;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990473	90990473	NC_000008.10:g.90990473T>G	ClinGen:CA371660179	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.556T>A (p.Ser186Thr)	4683	NBN	Uncertain significance	1586101246	RCV001024291\|RCV001862284;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990476	90990476	8:g.90990476A>T	-
NM_002485.5(NBN):c.552_556del (p.Glu185fs)	4683	NBN	Pathogenic	2129888420	RCV001946932;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990476	90990480	90990475	-
NM_002485.5(NBN):c.553G>C (p.Glu185Gln)	4683	NBN	Benign	1805794	RCV000121620\|RCV000162358\|RCV000374656\|RCV001705896\|RCV002225385\|RCV003315762;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|Human Phenotype Ontology:HP:00048	8	90990479	90990479	8:g.90990479C>G	ClinGen:CA160987,UniProtKB:O60934#VAR_025797	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.551T>C (p.Val184Ala)	4683	NBN	Uncertain significance	1811865315	RCV001218013;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990481	90990481	8:g.90990481A>G	-
NM_002485.5(NBN):c.550G>A (p.Val184Ile)	4683	NBN	Uncertain significance	1554566641	RCV000558763\|RCV002350224;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990482	90990482	8:g.90990482C>T	ClinGen:CA371660218	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.550G>T (p.Val184Phe)	4683	NBN	Uncertain significance	1554566641	RCV000636731\|RCV001024208;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990482	90990482	NC_000008.10:g.90990482C>A	ClinGen:CA371660215	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.549A>T (p.Ala183=)	4683	NBN	Likely benign	780661058	RCV000564132\|RCV000872699;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990483	90990483	8:g.90990483T>A	ClinGen:CA4802944	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.549A>G (p.Ala183=)	4683	NBN	Likely benign	780661058	RCV001024175\|RCV001449403;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990483	90990483	8:g.90990483T>C	-
NM_002485.5(NBN):c.548del (p.Ala183fs)	4683	NBN	Pathogenic	-1	RCV002832813;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990484	90990484	NC_000008.10:g.90990484del	-
NM_002485.5(NBN):c.547G>A (p.Ala183Thr)	4683	NBN	Uncertain significance	151070415	RCV000475501\|RCV000570581\|RCV000586067;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90990485	90990485	NC_000008.10:g.90990485C>T	ClinGen:CA4802945	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.541C>T (p.Leu181=)	4683	NBN	Likely benign	1060504930	RCV001468787;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990491	90990491	NC_000008.10:g.90990491G>A	ClinGen:CA16612496	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.541C>A (p.Leu181Met)	4683	NBN	Uncertain significance	1060504930	RCV000636727;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990491	90990491	NC_000008.10:g.90990491G>T	ClinGen:CA371660252	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.540C>T (p.Phe180=)	4683	NBN	Likely benign	1060504928	RCV000572876\|RCV001441195\|RCV002496844;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967	8	90990492	90990492	NC_000008.10:g.90990492G>A	ClinGen:CA16612501	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.539T>G (p.Phe180Cys)	4683	NBN	Uncertain significance	1060503457	RCV000462336;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990493	90990493	NC_000008.10:g.90990493A>C	ClinGen:CA16612375	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.527_538del (p.Tyr176_Glu179del)	4683	NBN	Uncertain significance	1811866878	RCV001318570;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990494	90990505	8:g.90990494_90990505del	-
NM_002485.5(NBN):c.537A>T (p.Glu179Asp)	4683	NBN	Uncertain significance	1554566673	RCV000548351\|RCV001024003;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990495	90990495	NC_000008.10:g.90990495T>A	ClinGen:CA371660267	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs)	4683	NBN	Pathogenic	1554566678	RCV000574501\|RCV001239591;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990495	90990497	8:g.90990496_90990497del	ClinGen:CA658657809	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.536A>T (p.Glu179Val)	4683	NBN	Uncertain significance	864622578	RCV000206504\|RCV000575816\|RCV001799634\|RCV003468955;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90990496	90990496	8:g.90990496T>A	ClinGen:CA350524	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.535G>A (p.Glu179Lys)	4683	NBN	Uncertain significance	1293382034	RCV001023973\|RCV001313559;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990497	90990497	8:g.90990497C>T	-
NM_002485.5(NBN):c.534T>A (p.Thr178=)	4683	NBN	Likely benign	2129888979	RCV002192993\|RCV002346371;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990498	90990498	90990498	-
NM_002485.5(NBN):c.532A>G (p.Thr178Ala)	4683	NBN	Uncertain significance	2129889032	RCV001959274;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990500	90990500	90990500	-
NM_002485.5(NBN):c.531del (p.Phe177fs)	4683	NBN	Likely pathogenic	1057516787	RCV000409476;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990501	90990501	8:g.90990501_90990501del	ClinGen:CA16041211	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.530_531del (p.Phe177fs)	4683	NBN	Likely pathogenic	-1	RCV002310296;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990501	90990502	90990500	-
NM_002485.5(NBN):c.530T>C (p.Phe177Ser)	4683	NBN	Uncertain significance	1064796090	RCV000482441\|RCV001302493;	N	MedGen:CN517202\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990502	90990502	8:g.90990502A>G	ClinGen:CA16618707	CN169374 not specified;
NM_002485.5(NBN):c.529T>G (p.Phe177Val)	4683	NBN	Uncertain significance	2129889154	RCV001905946;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990503	90990503	90990503	-
NM_002485.5(NBN):c.528T>C (p.Tyr176=)	4683	NBN	Likely benign	2129889177	RCV001408854\|RCV003284307;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990504	90990504	90990504	-
NM_002485.5(NBN):c.526T>A (p.Tyr176Asn)	4683	NBN	Uncertain significance	-1	RCV003026543;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990506	90990506	NC_000008.10:g.90990506A>T	-
NM_002485.5(NBN):c.525A>G (p.Glu175=)	4683	NBN	Likely benign	769400631	RCV000613855\|RCV000935979\|RCV001192341;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990507	90990507	8:g.90990507T>C	ClinGen:CA4802946	CN169374 not specified;
NM_002485.5(NBN):c.525A>C (p.Glu175Asp)	4683	NBN	Uncertain significance	-1	RCV002340986\|RCV003102712;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990507	90990507	90990507	-
NM_002485.5(NBN):c.523G>C (p.Glu175Gln)	4683	NBN	Uncertain significance	730881861	RCV000687653\|RCV000771741\|RCV003472188;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90990509	90990509	8:g.90990509C>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.522A>G (p.Pro174=)	4683	NBN	Likely benign	1489530490	RCV001493472;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990510	90990510	NC_000008.10:g.90990510T>C	ClinGen:CA461831257	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.520_521insT (p.Pro174fs)	4683	NBN	Pathogenic	2129889298	RCV001382958;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990511	90990512	90990511	-
NM_002485.5(NBN):c.520C>A (p.Pro174Thr)	4683	NBN	Uncertain significance	587778546	RCV000121619\|RCV000690603\|RCV001023731;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990512	90990512	8:g.90990512G>T	ClinGen:CA160984	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.517A>G (p.Lys173Glu)	4683	NBN	Uncertain significance	1563574056	RCV000709063\|RCV000781641;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90990515	90990515	8:g.90990515T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.516A>G (p.Val172=)	4683	NBN	Likely benign	2129889397	RCV001410653;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990516	90990516	90990516	-
NM_002485.5(NBN):c.515T>C (p.Val172Ala)	4683	NBN	Uncertain significance	1554566701	RCV000574936\|RCV001800771\|RCV002476214;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C00	8	90990517	90990517	8:g.90990517A>G	ClinGen:CA371660375	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.514G>A (p.Val172Ile)	4683	NBN	Uncertain significance	1586101456	RCV000811270\|RCV001023619;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990518	90990518	8:g.90990518C>T	-
NM_002485.5(NBN):c.496_512del (p.Ile166fs)	4683	NBN	Pathogenic	758830069	RCV000636716;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990520	90990536	NC_000008.10:g.90990520_90990536del	ClinGen:CA4802947	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.511A>C (p.Ile171Leu)	4683	NBN	Uncertain significance	61754966	RCV000576061\|RCV000636728;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990521	90990521	8:g.90990521T>G	ClinGen:CA181279296	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.510A>G (p.Pro170=)	4683	NBN	Likely benign	772311947	RCV000215638\|RCV001394015;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990522	90990522	8:g.90990522T>C	ClinGen:CA4802948	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.509C>T (p.Pro170Leu)	4683	NBN	Uncertain significance	587782411	RCV000131450\|RCV000457816\|RCV003474777;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90990523	90990523	8:g.90990523G>A	ClinGen:CA168174	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.508C>G (p.Pro170Ala)	4683	NBN	Uncertain significance	1554566720	RCV000535863;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990524	90990524	NC_000008.10:g.90990524G>C	ClinGen:CA371660403	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.506G>A (p.Arg169His)	4683	NBN	Uncertain significance	776134250	RCV000166315\|RCV000214523\|RCV000460960\|RCV000780528\|RCV003462210;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90990526	90990526	8:g.90990526C>T	ClinGen:CA195555	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.505C>T (p.Arg169Cys)	4683	NBN	Conflicting interpretations of pathogenicity	182756889	RCV000115796\|RCV000123218\|RCV000587269\|RCV000764786\|RCV001030567\|RCV001549273\|RCV003389690;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00	8	90990527	90990527	8:g.90990527G>A	ClinGen:CA287937	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.504A>C (p.Gly168=)	4683	NBN	Likely benign	1057521464	RCV000418511\|RCV001463309\|RCV002339017;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990528	90990528	8:g.90990528T>G	ClinGen:CA16606148	CN169374 not specified;
NM_002485.5(NBN):c.504A>G (p.Gly168=)	4683	NBN	Likely benign	1057521464	RCV001444660\|RCV002350886;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990528	90990528	90990528	-
NM_002485.5(NBN):c.503G>A (p.Gly168Glu)	4683	NBN	Uncertain significance	1554566728	RCV000559552\|RCV000764787\|RCV001023458\|RCV001192404;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065, Orphanet:513; MONDO:MONDO:0009623,Med	8	90990529	90990529	NC_000008.10:g.90990529C>T	ClinGen:CA371660643	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.500G>A (p.Cys167Tyr)	4683	NBN	Uncertain significance	1060503464	RCV000461101;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990532	90990532	NC_000008.10:g.90990532C>T	ClinGen:CA16612667	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.499dup (p.Cys167fs)	4683	NBN	Pathogenic	1586101561	RCV000796626;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990532	90990533	8:g.90990532_90990533insA	-
NM_002485.5(NBN):c.499T>A (p.Cys167Ser)	4683	NBN	Uncertain significance	1586101551	RCV001023386\|RCV001873370;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990533	90990533	8:g.90990533A>T	-
NM_002485.5(NBN):c.498T>C (p.Ile166=)	4683	NBN	Likely benign	-1	RCV003040408;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990534	90990534		-
NM_002485.5(NBN):c.495C>G (p.Leu165=)	4683	NBN	Likely benign	764290829	RCV000547138\|RCV000569686;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990537	90990537	NC_000008.10:g.90990537G>C	ClinGen:CA4802949	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.495C>T (p.Leu165=)	4683	NBN	Likely benign	764290829	RCV000976890\|RCV001023325;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990537	90990537	8:g.90990537G>A	-
NM_002485.5(NBN):c.494T>G (p.Leu165Arg)	4683	NBN	Uncertain significance	1060503458	RCV000472142;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990538	90990538	NC_000008.10:g.90990538A>C	ClinGen:CA16612670	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.493C>A (p.Leu165Ile)	4683	NBN	Uncertain significance	776810966	RCV000529846\|RCV000571587\|RCV001764556;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90990539	90990539	NC_000008.10:g.90990539G>T	ClinGen:CA371660684	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.492A>G (p.Ala164=)	4683	NBN	Likely benign	765493509	RCV000220484\|RCV001440097;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990540	90990540	8:g.90990540T>C	ClinGen:CA10578801	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.490G>T (p.Ala164Ser)	4683	NBN	Uncertain significance	786201252	RCV000163172\|RCV001326092\|RCV003467277;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90990542	90990542	8:g.90990542C>A	ClinGen:CA187645	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.490G>A (p.Ala164Thr)	4683	NBN	Uncertain significance	786201252	RCV001238775;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990542	90990542	8:g.90990542C>T	-
NM_002485.5(NBN):c.486A>G (p.Ile162Met)	4683	NBN	Uncertain significance	1554566760	RCV000569087\|RCV001800792;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990546	90990546	8:g.90990546T>C	ClinGen:CA371660713	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.485T>A (p.Ile162Lys)	4683	NBN	Uncertain significance	1554566766	RCV000558349;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990547	90990547	NC_000008.10:g.90990547A>T	ClinGen:CA371660719	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.484A>G (p.Ile162Val)	4683	NBN	Uncertain significance	750594114	RCV000571569\|RCV001361956;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990548	90990548	NC_000008.10:g.90990548T>C	ClinGen:CA4802953	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.484A>C (p.Ile162Leu)	4683	NBN	Uncertain significance	750594114	RCV000819497;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990548	90990548	8:g.90990548T>G	-
NM_002485.5(NBN):c.483A>G (p.Thr161=)	4683	NBN	Likely benign	758276775	RCV000166456\|RCV000600836\|RCV000673255\|RCV001706087;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90990549	90990549	8:g.90990549T>C	ClinGen:CA195917	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.481-2A>G	4683	NBN	Likely pathogenic	751567476	RCV000483114\|RCV001184207\|RCV002525921;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990553	90990553	8:g.90990553T>C	ClinGen:CA16618708	CN517202 not provided;
NM_002485.5(NBN):c.481-2A>T	4683	NBN	Pathogenic/Likely pathogenic	751567476	RCV000523496\|RCV000569604\|RCV000707500\|RCV002497023\|RCV003470656;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotyp	8	90990553	90990553	8:g.90990553T>A	ClinGen:CA4802955	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.481-2A>C	4683	NBN	Likely pathogenic	751567476	RCV001971340;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990553	90990553	90990553	-
NM_002485.5(NBN):c.481-3T>C	4683	NBN	Uncertain significance	1060503456	RCV000470578\|RCV002339186;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90990554	90990554	NC_000008.10:g.90990554A>G	ClinGen:CA16612504	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.481-4G>A	4683	NBN	Benign/Likely benign	754864893	RCV000465095\|RCV000775390\|RCV003316627;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967	8	90990555	90990555	NC_000008.10:g.90990555C>T	ClinGen:CA4802956	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.481-5T>C	4683	NBN	Conflicting interpretations of pathogenicity	2129890359	RCV001772463\|RCV002074009;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990556	90990556	90990556	-
NM_002485.5(NBN):c.481-7A>G	4683	NBN	Likely benign	2129890380	RCV001395703;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990558	90990558	90990558	-
NM_002485.5(NBN):c.481-7A>C	4683	NBN	Likely benign	2129890380	RCV001418707;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990558	90990558	90990558	-
NM_002485.5(NBN):c.481-9T>A	4683	NBN	Likely benign	1563574400	RCV000695238;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990560	90990560	8:g.90990560A>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.481-11C>T	4683	NBN	Likely benign	2129890419	RCV001355761\|RCV002547616;	N	MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990562	90990562	90990562	-
NM_002485.5(NBN):c.481-18_481-17del	4683	NBN	Likely benign	778286254	RCV000479612\|RCV002063694;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990568	90990569	NC_000008.10:g.90990568_90990569del	ClinGen:CA4802957	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.481-18A>G	4683	NBN	Benign	587781092	RCV000127092\|RCV002055696;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990569	90990569	8:g.90990569T>C	ClinGen:CA292414	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.481-19C>T	4683	NBN	Likely benign	1563574425	RCV002536670;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90990570	90990570	NC_000008.10:g.90990570G>A	-
NM_002485.5(NBN):c.480+20C>G	4683	NBN	Likely benign	371204291	RCV002160086;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992942	90992942	90992942	-
NM_002485.5(NBN):c.480+18T>C	4683	NBN	Likely benign	1459034801	RCV002068465;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992944	90992944	8:g.90992944A>G	-
NM_002485.5(NBN):c.480+15T>C	4683	NBN	Likely benign	1554567838	RCV002065101;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992947	90992947	NC_000008.10:g.90992947A>G	ClinGen:CA658683517	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.480+14C>G	4683	NBN	Likely benign	-1	RCV003006085;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992948	90992948	NC_000008.10:g.90992948G>C	-
NM_002485.5(NBN):c.480+12G>A	4683	NBN	Likely benign	755689211	RCV002560825;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992950	90992950	8:g.90992950C>T	-
NM_002485.5(NBN):c.480+10A>G	4683	NBN	Likely benign	878854512	RCV000226488;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992952	90992952	NC_000008.10:g.90992952T>C	ClinGen:CA10582606	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NC_000008.11:g.(?_89980724)_(89984571_?)del	4683	NBN	Pathogenic	-1	RCV001033017;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992952	90996799	-1	-
NM_002485.5(NBN):c.480+10del	4683	NBN	Likely benign	1812019032	RCV001430721;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992952	90992952	90992951	-
NC_000008.10:g.(?_90992952)_(90993761_?)del	4683	NBN	Likely pathogenic	-1	RCV002024795;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992952	90993761	-1	-
NM_002485.5(NBN):c.480+9A>G	4683	NBN	Likely benign	-1	RCV003020829;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992953	90992953	NC_000008.10:g.90992953T>C	-
NM_002485.5(NBN):c.480+8G>A	4683	NBN	Likely benign	777117690	RCV000460331;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992954	90992954	NC_000008.10:g.90992954C>T	ClinGen:CA4802977	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.480+7T>G	4683	NBN	Likely benign	1554567841	RCV000545699;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992955	90992955	8:g.90992955A>C	ClinGen:CA658657810	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.480+7T>C	4683	NBN	Likely benign	1554567841	RCV002089969;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992955	90992955	90992955	-
NM_002485.5(NBN):c.480+5G>A	4683	NBN	Uncertain significance	753578226	RCV000230103;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992957	90992957	NC_000008.10:g.90992957C>T	ClinGen:CA4802978	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.480+4G>T	4683	NBN	Uncertain significance	1812019530	RCV001231614;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992958	90992958	8:g.90992958C>A	-
NM_002485.5(NBN):c.480+3A>G	4683	NBN	Uncertain significance	756817252	RCV000167302\|RCV000486118\|RCV000477069\|RCV003468806;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90992959	90992959	8:g.90992959T>C	ClinGen:CA197966	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.480+3A>T	4683	NBN	Uncertain significance	756817252	RCV001373022;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992959	90992959	90992959	-
NM_002485.5(NBN):c.480+2T>G	4683	NBN	Likely pathogenic	-1	RCV002337877\|RCV003096473;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992960	90992960	90992960	-
NC_000008.11:g.(?_89980734)_(89984671_?)del	4683	NBN	Pathogenic	-1	RCV000461971;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992962	90996899		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.480A>G (p.Lys160=)	4683	NBN	Conflicting interpretations of pathogenicity	1554567842	RCV000567562\|RCV000636809;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992962	90992962	8:g.90992962T>C	ClinGen:CA461831330	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.475A>G (p.Ile159Val)	4683	NBN	Uncertain significance	747319065	RCV001959871;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992967	90992967	90992967	-
NM_002485.5(NBN):c.474del (p.Ile159fs)	4683	NBN	Pathogenic/Likely pathogenic	1563578540	RCV000689922\|RCV002334278\|RCV003472198;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90992968	90992968	8:g.90992968_90992968del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.474C>T (p.Thr158=)	4683	NBN	Conflicting interpretations of pathogenicity	1563578527	RCV000774889\|RCV001474735;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992968	90992968	NC_000008.10:g.90992968G>A	-
NM_002485.5(NBN):c.472A>T (p.Thr158Ser)	4683	NBN	Uncertain significance	2129908259	RCV002048778;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992970	90992970	90992970	-
NM_002485.5(NBN):c.471T>C (p.Val157=)	4683	NBN	Likely benign	864622275	RCV001459484\|RCV002336558;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90992971	90992971	8:g.90992971A>G	ClinGen:CA347991	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.471T>G (p.Val157=)	4683	NBN	Likely benign	864622275	RCV001421312;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992971	90992971	90992971	-
NM_002485.5(NBN):c.469G>A (p.Val157Ile)	4683	NBN	Uncertain significance	1060503486	RCV000472954\|RCV002257725;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90992973	90992973	NC_000008.10:g.90992973C>T	ClinGen:CA16612551	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.468A>C (p.Lys156Asn)	4683	NBN	Conflicting interpretations of pathogenicity	730881858	RCV000160796\|RCV000222254\|RCV000456204\|RCV000781643;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90992974	90992974	NC_000008.10:g.90992974T>G	ClinGen:CA299636	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.468del (p.Val157fs)	4683	NBN	Pathogenic	1563578596	RCV000699739\|RCV002334343;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90992974	90992974	NC_000008.10:g.90992976del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.462A>T (p.Ser154=)	4683	NBN	Likely benign	1214415718	RCV001022806\|RCV001471670;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992980	90992980	8:g.90992980T>A	-
NM_002485.5(NBN):c.462A>G (p.Ser154=)	4683	NBN	Likely benign	1214415718	RCV002082508;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992980	90992980	90992980	-
NM_002485.5(NBN):c.459A>G (p.Val153=)	4683	NBN	Likely benign	566630862	RCV000167410\|RCV000422977\|RCV000552380\|RCV001354722;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90992983	90992983	8:g.90992983T>C	ClinGen:CA198223	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.459A>C (p.Val153=)	4683	NBN	Likely benign	566630862	RCV000166526\|RCV000539610;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992983	90992983	8:g.90992983T>G	ClinGen:CA196100	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.458T>C (p.Val153Ala)	4683	NBN	Uncertain significance	1554567865	RCV000598503\|RCV001022749\|RCV001800818;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992984	90992984	8:g.90992984A>G	ClinGen:CA371661576	CN169374 not specified;
NM_002485.5(NBN):c.456G>A (p.Met152Ile)	4683	NBN	Conflicting interpretations of pathogenicity	201816949	RCV000115795\|RCV000197783\|RCV000509203\|RCV000515395\|RCV000781635\|RCV001356300\|RCV003467061;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00	8	90992986	90992986	8:g.90992986C>T	ClinGen:CA287934	C0023449 613065 Acute lymphoid leukemia;
NM_002485.5(NBN):c.456G>T (p.Met152Ile)	4683	NBN	Likely benign	-1	RCV002816679;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992986	90992986	NC_000008.10:g.90992986C>A	-
NM_002485.5(NBN):c.454A>G (p.Met152Val)	4683	NBN	Uncertain significance	1554567872	RCV000566919\|RCV000701299;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992988	90992988	8:g.90992988T>C	ClinGen:CA371661606	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.453C>T (p.Val151=)	4683	NBN	Likely benign	1176879721	RCV000636795\|RCV000679466\|RCV002334082;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90992989	90992989	8:g.90992989G>A	ClinGen:CA461831346	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.451G>T (p.Val151Phe)	4683	NBN	Uncertain significance	587781549	RCV000129563\|RCV001225616;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992991	90992991	8:g.90992991C>A	ClinGen:CA164672	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.448del (p.Val151fs)	4683	NBN	Pathogenic	1563578727	RCV002535601;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992994	90992994	NC_000008.10:g.90992995del	-
NM_002485.5(NBN):c.447C>T (p.His149=)	4683	NBN	Likely benign	868089138	RCV001022548\|RCV001494227;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90992995	90992995	8:g.90992995G>A	-
NM_002485.5(NBN):c.447C>A (p.His149Gln)	4683	NBN	Uncertain significance	868089138	RCV001306778\|RCV002327673;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90992995	90992995	90992995	-
NM_002485.5(NBN):c.445del (p.His149fs)	4683	NBN	Pathogenic/Likely pathogenic	1554567892	RCV000568920\|RCV000636715\|RCV000985878\|RCV003470830;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90992997	90992997	8:g.90992997_90992997del	ClinGen:CA658657811	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.445C>T (p.His149Tyr)	4683	NBN	Uncertain significance	1161054161	RCV001090212\|RCV001862672\|RCV002327376;	N	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90992997	90992997	8:g.90992997G>A	-
NM_002485.5(NBN):c.442A>G (p.Thr148Ala)	4683	NBN	Uncertain significance	1060503479	RCV000457136\|RCV000775713\|RCV002248692;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90993000	90993000	NC_000008.10:g.90993000T>C	ClinGen:CA16612552	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.442A>T (p.Thr148Ser)	4683	NBN	Uncertain significance	1060503479	RCV001552127\|RCV001882630;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993000	90993000	90993000	-
NM_002485.5(NBN):c.441C>T (p.Cys147=)	4683	NBN	Benign/Likely benign	137857529	RCV000198138\|RCV000214383\|RCV000508575\|RCV001706185;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	8	90993001	90993001	8:g.90993001G>A	ClinGen:CA337675	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.440G>A (p.Cys147Tyr)	4683	NBN	Uncertain significance	-1	RCV002297149;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993002	90993002	90993002	-
NM_002485.5(NBN):c.438A>G (p.Glu146=)	4683	NBN	Likely benign	2129908816	RCV001483047;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993004	90993004	90993004	-
NM_002485.5(NBN):c.436G>T (p.Glu146Ter)	4683	NBN	Pathogenic	1812023357	RCV001220913\|RCV002327522;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993006	90993006	8:g.90993006C>A	-
NM_002485.5(NBN):c.436G>A (p.Glu146Lys)	4683	NBN	Uncertain significance	1812023357	RCV001222707;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993006	90993006	8:g.90993006C>T	-
NM_002485.5(NBN):c.432A>G (p.Thr144=)	4683	NBN	Conflicting interpretations of pathogenicity	886043003	RCV000394577\|RCV001022303\|RCV001436992;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993010	90993010	8:g.90993010T>C	ClinGen:CA10604979	CN169374 not specified;
NM_002485.5(NBN):c.432del (p.Glu145fs)	4683	NBN	Likely pathogenic	1554567902	RCV000665020;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993010	90993010	8:g.90993010_90993010del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.432A>C (p.Thr144=)	4683	NBN	Likely benign	886043003	RCV002093681;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993010	90993010	90993010	-
NM_002485.5(NBN):c.431C>G (p.Thr144Arg)	4683	NBN	Uncertain significance	1554567906	RCV000777594\|RCV000818512;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993011	90993011	NC_000008.10:g.90993011G>C	-
NM_002485.5(NBN):c.430A>G (p.Thr144Ala)	4683	NBN	Uncertain significance	1812023859	RCV001343667;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993012	90993012	90993012	-
NM_002485.5(NBN):c.429G>A (p.Trp143Ter)	4683	NBN	Pathogenic/Likely pathogenic	1812023981	RCV001061415\|RCV003462589;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90993013	90993013	8:g.90993013C>T	-
NM_002485.5(NBN):c.427T>C (p.Trp143Arg)	4683	NBN	Uncertain significance	770995856	RCV001298630\|RCV002327640;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993015	90993015	90993015	-
NM_002485.5(NBN):c.426T>C (p.Asn142=)	4683	NBN	Benign/Likely benign	143070291	RCV000163797\|RCV000204472\|RCV000433173;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90993016	90993016	8:g.90993016A>G	ClinGen:CA189208	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)	4683	NBN	Conflicting interpretations of pathogenicity	769414	RCV000115794\|RCV000121617\|RCV000168260\|RCV000515292\|RCV000589414\|RCV001355243;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:00	8	90993017	90993017	8:g.90993017T>C	ClinGen:CA160978,UniProtKB:O60934#VAR_051226	C0023449 613065 Acute lymphoid leukemia;
NM_002485.5(NBN):c.424A>G (p.Asn142Asp)	4683	NBN	Uncertain significance	1586106848	RCV000794767;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993018	90993018	8:g.90993018T>C	-
NM_002485.5(NBN):c.421A>G (p.Asn141Asp)	4683	NBN	Uncertain significance	2129909122	RCV001974368;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993021	90993021	90993021	-
NM_002485.5(NBN):c.420A>G (p.Val140=)	4683	NBN	Likely benign	767296279	RCV000166401\|RCV001478197\|RCV001563083;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90993022	90993022	8:g.90993022T>C	ClinGen:CA195776	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.419T>C (p.Val140Ala)	4683	NBN	Uncertain significance	752672571	RCV001978389;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993023	90993023	90993023	-
NM_002485.5(NBN):c.417T>C (p.Thr139=)	4683	NBN	Likely benign	760586161	RCV000572939\|RCV001466187;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993025	90993025	NC_000008.10:g.90993025A>G	ClinGen:CA4802984	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.416C>T (p.Thr139Ile)	4683	NBN	Uncertain significance	2129909239	RCV001962199;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993026	90993026	90993026	-
NM_002485.5(NBN):c.415A>G (p.Thr139Ala)	4683	NBN	Conflicting interpretations of pathogenicity	543852763	RCV000165497\|RCV000168457\|RCV001706081\|RCV002225484;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	8	90993027	90993027	8:g.90993027T>C	ClinGen:CA193554	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.414T>C (p.Phe138=)	4683	NBN	Likely benign	1554567933	RCV000531732\|RCV000776657;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993028	90993028	NC_000008.10:g.90993028A>G	ClinGen:CA461831364	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.411A>T (p.Gly137=)	4683	NBN	Likely benign	-1	RCV002838013;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993031	90993031		-
NM_002485.5(NBN):c.409G>A (p.Gly137Arg)	4683	NBN	Uncertain significance	-1	RCV003042224;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993033	90993033	NC_000008.10:g.90993033C>T	-
NM_002485.5(NBN):c.407dup (p.Gly137fs)	4683	NBN	Pathogenic	747462107	RCV001875843;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993034	90993035	8:g.90993034_90993035insC	-
NM_002485.5(NBN):c.407G>A (p.Gly136Glu)	4683	NBN	Uncertain significance	1812025943	RCV001350373;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993035	90993035	90993035	-
NM_002485.5(NBN):c.406G>A (p.Gly136Arg)	4683	NBN	Uncertain significance	1554567936	RCV000555403\|RCV000581461\|RCV001193651;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90993036	90993036	8:g.90993036C>T	ClinGen:CA371661869	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.405T>G (p.Leu135=)	4683	NBN	Likely benign	1554567937	RCV000538387;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993037	90993037	8:g.90993037A>C	ClinGen:CA461831371	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.403C>G (p.Leu135Val)	4683	NBN	Uncertain significance	1409617560	RCV000698957\|RCV001021730;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993039	90993039	8:g.90993039G>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.402A>G (p.Gln134=)	4683	NBN	Likely benign	2129909448	RCV002193861\|RCV002352942;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993040	90993040	90993040	-
NM_002485.5(NBN):c.401A>G (p.Gln134Arg)	4683	NBN	Uncertain significance	1586106962	RCV001021672\|RCV001365062;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993041	90993041	8:g.90993041T>C	-
NM_002485.5(NBN):c.401A>C (p.Gln134Pro)	4683	NBN	Uncertain significance	-1	RCV002847790;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993041	90993041	NC_000008.10:g.90993041T>G	-
NM_002485.5(NBN):c.393_400del (p.Ile132fs)	4683	NBN	Pathogenic	2129909528	RCV001870735\|RCV002359320;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993042	90993049	90993041	-
NM_002485.5(NBN):c.399G>A (p.Leu133=)	4683	NBN	Likely benign	2129909551	RCV001458201\|RCV002322501;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993043	90993043	90993043	-
NM_002485.5(NBN):c.399G>T (p.Leu133Phe)	4683	NBN	Uncertain significance	2129909551	RCV002006176;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993043	90993043	90993043	-
NM_002485.5(NBN):c.397T>C (p.Leu133=)	4683	NBN	Likely benign	1229464840	RCV000565236\|RCV000614784\|RCV000636799;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993045	90993045	8:g.90993045A>G	ClinGen:CA461831376	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.396A>G (p.Ile132Met)	4683	NBN	Conflicting interpretations of pathogenicity	1060503462	RCV000460586\|RCV001021549\|RCV001800688;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90993046	90993046	NC_000008.10:g.90993046T>C	ClinGen:CA16612674	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.396A>T (p.Ile132=)	4683	NBN	Likely benign	1060503462	RCV001506492;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993046	90993046	90993046	-
NM_002485.5(NBN):c.394A>G (p.Ile132Val)	4683	NBN	Conflicting interpretations of pathogenicity	756946899	RCV000223570\|RCV000636732;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993048	90993048	8:g.90993048T>C	ClinGen:CA4802987	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.393T>G (p.Ala131=)	4683	NBN	Likely benign	372061224	RCV000163560\|RCV000549688\|RCV001721048;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90993049	90993049	8:g.90993049A>C	ClinGen:CA188619	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.392C>G (p.Ala131Gly)	4683	NBN	Uncertain significance	1469136096	RCV000699244\|RCV001189744\|RCV003465607;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90993050	90993050	8:g.90993050G>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.392C>T (p.Ala131Val)	4683	NBN	Uncertain significance	1469136096	RCV001069681;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993050	90993050	8:g.90993050G>A	-
NM_002485.5(NBN):c.390A>G (p.Gln130=)	4683	NBN	Conflicting interpretations of pathogenicity	146150499	RCV000768028\|RCV000799906\|RCV001021414\|RCV001619837\|RCV002271580;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88; Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Ph	8	90993052	90993052	NC_000008.10:g.90993052T>C	-
NM_002485.5(NBN):c.388C>G (p.Gln130Glu)	4683	NBN	Uncertain significance	1586107038	RCV000816700\|RCV001021363\|RCV003473494;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90993054	90993054	8:g.90993054G>C	-
NM_002485.5(NBN):c.385A>C (p.Asn129His)	4683	NBN	Uncertain significance	1060503477	RCV000456497;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993057	90993057	NC_000008.10:g.90993057T>G	ClinGen:CA16612380	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.385A>G (p.Asn129Asp)	4683	NBN	Uncertain significance	1060503477	RCV001306498\|RCV002357110;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993057	90993057	90993057	-
NM_002485.5(NBN):c.384A>G (p.Leu128=)	4683	NBN	Likely benign	587780782	RCV000123217\|RCV000219664\|RCV000587700;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90993058	90993058	8:g.90993058T>C	ClinGen:CA332823	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.383T>G (p.Leu128Ter)	4683	NBN	Pathogenic	1060503463	RCV000467395\|RCV002365663;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993059	90993059	NC_000008.10:g.90993059A>C	ClinGen:CA16612505	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.380_383delinsAC (p.Ala127fs)	4683	NBN	Likely pathogenic	1554567960	RCV000674686;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993059	90993062	8:g.90993060_90993062del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.381T>C (p.Ala127=)	4683	NBN	Benign/Likely benign	61754795	RCV000119323\|RCV000157764\|RCV000178181\|RCV000988088\|RCV003315708\|RCV002498545;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontolog	8	90993061	90993061	8:g.90993061A>G	ClinGen:CA202746	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.380C>G (p.Ala127Gly)	4683	NBN	Uncertain significance	1554567966	RCV000539193\|RCV002358487;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993062	90993062	8:g.90993062G>C	ClinGen:CA371662000	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.378T>G (p.Thr126=)	4683	NBN	Likely benign	1586107111	RCV001021149\|RCV001397572;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993064	90993064	8:g.90993064A>C	-
NM_002485.5(NBN):c.377del (p.Thr126fs)	4683	NBN	Pathogenic	1554567972	RCV000636723;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993065	90993065	8:g.90993065_90993065del	ClinGen:CA658797121	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.376A>T (p.Thr126Ser)	4683	NBN	Uncertain significance	1484120047	RCV000804370\|RCV001191218\|RCV001592998;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90993066	90993066	8:g.90993066T>A	-
NM_002485.5(NBN):c.375A>G (p.Lys125=)	4683	NBN	Likely benign	1554567977	RCV000611524\|RCV000943643\|RCV001021064;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993067	90993067	8:g.90993067T>C	ClinGen:CA461831388	CN169374 not specified;
NM_002485.5(NBN):c.373A>C (p.Lys125Gln)	4683	NBN	Uncertain significance	1563579253	RCV000706412\|RCV001021009;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993069	90993069	8:g.90993069T>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.371G>A (p.Gly124Glu)	4683	NBN	Uncertain significance	781671474	RCV000229933;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993071	90993071	8:g.90993071C>T	ClinGen:CA4802989	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.370G>A (p.Gly124Arg)	4683	NBN	Uncertain significance	1064794806	RCV000480135\|RCV000550486\|RCV001020944;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993072	90993072	8:g.90993072C>T	ClinGen:CA16618709	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.367T>G (p.Ser123Ala)	4683	NBN	Uncertain significance	786203615	RCV000167005\|RCV001041662;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993075	90993075	8:g.90993075A>C	ClinGen:CA197249	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.366C>T (p.Val122=)	4683	NBN	Likely benign	748684665	RCV000222590\|RCV000937919;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993076	90993076	8:g.90993076G>A	ClinGen:CA4802990	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.363T>A (p.Asp121Glu)	4683	NBN	Uncertain significance	987369991	RCV000537971\|RCV002456093;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993079	90993079	NC_000008.10:g.90993079A>T	ClinGen:CA181280399	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.362A>G (p.Asp121Gly)	4683	NBN	Uncertain significance	770163751	RCV000480445\|RCV001276021;	N	MedGen:CN517202\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993080	90993080	8:g.90993080T>C	ClinGen:CA4802991	CN169374 not specified;
NM_002485.5(NBN):c.362A>C (p.Asp121Ala)	4683	NBN	Uncertain significance	-1	RCV003009452;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993080	90993080	NC_000008.10:g.90993080T>G	-
NM_002485.5(NBN):c.362A>T (p.Asp121Val)	4683	NBN	Uncertain significance	-1	RCV003032482;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993080	90993080	NC_000008.10:g.90993080T>A	-
NM_002485.5(NBN):c.360A>G (p.Leu120=)	4683	NBN	Likely benign	1563579373	RCV000774229\|RCV000938037;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993082	90993082	NC_000008.10:g.90993082T>C	-
NM_002485.5(NBN):c.359T>C (p.Leu120Ser)	4683	NBN	Uncertain significance	1563579387	RCV000705028\|RCV002458309;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993083	90993083	8:g.90993083A>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.359T>G (p.Leu120Ter)	4683	NBN	Pathogenic/Likely pathogenic	1563579387	RCV001206069\|RCV003346362\|RCV003469334;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90993083	90993083	8:g.90993083A>C	-
NM_002485.5(NBN):c.351_359del (p.Ser118_Leu120del)	4683	NBN	Uncertain significance	2129910321	RCV001922115\|RCV002458717;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993083	90993091	90993082	-
NM_002485.5(NBN):c.357T>C (p.Cys119=)	4683	NBN	Likely benign	2129910339	RCV001416440;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993085	90993085	90993085	-
NM_002485.5(NBN):c.356G>T (p.Cys119Phe)	4683	NBN	Uncertain significance	749272832	RCV000574113\|RCV001372748;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993086	90993086	8:g.90993086C>A	ClinGen:CA371662094	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.356G>C (p.Cys119Ser)	4683	NBN	Uncertain significance	749272832	RCV000636734\|RCV001020638;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993086	90993086	NC_000008.10:g.90993086C>G	ClinGen:CA371662095	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.356G>A (p.Cys119Tyr)	4683	NBN	Uncertain significance	749272832	RCV001020635\|RCV001321192;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993086	90993086	8:g.90993086C>T	-
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del)	4683	NBN	Uncertain significance	730881841	RCV000198706\|RCV000575427\|RCV000656924\|RCV001355557\|RCV002484998\|RCV003474832;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMI	8	90993087	90993089	NC_000008.10:g.90993088AGA[1]	ClinGen:CA299576	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.353C>T (p.Ser118Phe)	4683	NBN	Uncertain significance	-1	RCV002459472\|RCV003099550;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993089	90993089	90993089	-
NM_002485.5(NBN):c.353del (p.Ser118fs)	4683	NBN	Pathogenic	-1	RCV003031986;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993089	90993089	NC_000008.10:g.90993089del	-
NM_002485.5(NBN):c.352del (p.Ser118fs)	4683	NBN	Pathogenic	2129910401	RCV001941965;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993090	90993090	90993089	-
NM_002485.5(NBN):c.351T>G (p.Ser117=)	4683	NBN	Likely benign	1163807799	RCV002186483\|RCV003355828;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993091	90993091	90993091	-
NM_002485.5(NBN):c.350C>T (p.Ser117Phe)	4683	NBN	Uncertain significance	1060503468	RCV000471065\|RCV001190863\|RCV003476114;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90993092	90993092	NC_000008.10:g.90993092G>A	ClinGen:CA16612506	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.350C>A (p.Ser117Tyr)	4683	NBN	Uncertain significance	1060503468	RCV001036608;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993092	90993092	8:g.90993092G>T	-
NM_002485.5(NBN):c.350C>G (p.Ser117Cys)	4683	NBN	Uncertain significance	1060503468	RCV001183671\|RCV002560846;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993092	90993092	8:g.90993092G>C	-
NM_002485.5(NBN):c.349T>C (p.Ser117Pro)	4683	NBN	Uncertain significance	1563579445	RCV000697167\|RCV002458261;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993093	90993093	8:g.90993093A>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.346T>C (p.Cys116Arg)	4683	NBN	Uncertain significance	1586107344	RCV000800926;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993096	90993096	8:g.90993096A>G	-
NM_002485.5(NBN):c.343G>T (p.Ala115Ser)	4683	NBN	Uncertain significance	876658434	RCV000222524\|RCV001341247;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993099	90993099	8:g.90993099C>A	ClinGen:CA10578803	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.343G>A (p.Ala115Thr)	4683	NBN	Uncertain significance	876658434	RCV000819413\|RCV002453878;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993099	90993099	8:g.90993099C>T	-
NM_002485.5(NBN):c.342T>G (p.Val114=)	4683	NBN	Likely benign	1563579495	RCV001416654;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993100	90993100	NC_000008.10:g.90993100A>C	-
NM_002485.5(NBN):c.341T>G (p.Val114Gly)	4683	NBN	Uncertain significance	2129910604	RCV001923976;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993101	90993101	90993101	-
NM_002485.5(NBN):c.340G>T (p.Val114Phe)	4683	NBN	Conflicting interpretations of pathogenicity	771034958	RCV000206877\|RCV000220601\|RCV000486552\|RCV000767209\|RCV000764790\|RCV003474978;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:000480	8	90993102	90993102	8:g.90993102C>A	ClinGen:CA350859	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.340G>A (p.Val114Ile)	4683	NBN	Uncertain significance	771034958	RCV000217636\|RCV000462040;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993102	90993102	8:g.90993102C>T	ClinGen:CA4802994	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.339G>A (p.Leu113=)	4683	NBN	Likely benign	774622977	RCV000222102\|RCV001448806;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993103	90993103	8:g.90993103C>T	ClinGen:CA4802995	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.339G>T (p.Leu113Phe)	4683	NBN	Uncertain significance	774622977	RCV001369574;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993103	90993103	90993103	-
NM_002485.5(NBN):c.337T>C (p.Leu113=)	4683	NBN	Likely benign	2129910690	RCV001393393;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993105	90993105	90993105	-
NM_002485.5(NBN):c.335C>G (p.Pro112Arg)	4683	NBN	Uncertain significance	759723870	RCV000470002\|RCV000478392\|RCV002323751;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993107	90993107	NC_000008.10:g.90993107G>C	ClinGen:CA4802996	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.335C>T (p.Pro112Leu)	4683	NBN	Uncertain significance	759723870	RCV001020084\|RCV001233028;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993107	90993107	8:g.90993107G>A	-
NM_002485.5(NBN):c.335del (p.Pro112fs)	4683	NBN	Pathogenic	2129910740	RCV002035348;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993107	90993107	90993106	-
NM_002485.5(NBN):c.333G>A (p.Glu111=)	4683	NBN	Likely benign	376455714	RCV000162512\|RCV000234289\|RCV000441434\|RCV001721021;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MedGen:C3661900	8	90993109	90993109	8:g.90993109C>T	ClinGen:CA186384	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.332A>C (p.Glu111Ala)	4683	NBN	Uncertain significance	876659320	RCV000220573\|RCV001219804\|RCV001770177;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90993110	90993110	8:g.90993110T>G	ClinGen:CA10578804	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.332A>G (p.Glu111Gly)	4683	NBN	Uncertain significance	876659320	RCV000481220\|RCV000557130\|RCV002323817;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993110	90993110	8:g.90993110T>C	ClinGen:CA16618710	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.330dup (p.Glu111Ter)	4683	NBN	Pathogenic	2129910887	RCV001944055;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993111	90993112	90993111	-
NM_002485.5(NBN):c.331G>C (p.Glu111Gln)	4683	NBN	Uncertain significance	-1	RCV003059233;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993111	90993111	NC_000008.10:g.90993111C>G	-
NM_002485.5(NBN):c.330T>G (p.Tyr110Ter)	4683	NBN	Pathogenic	1057519585	RCV000417080\|RCV003138000;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90993112	90993112	8:g.90993112A>C	ClinGen:CA16044376	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.329A>G (p.Tyr110Cys)	4683	NBN	Uncertain significance	1355269482	RCV000696752\|RCV001019774;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993113	90993113	8:g.90993113T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.327G>A (p.Glu109=)	4683	NBN	Likely benign	1554568031	RCV001432517;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993115	90993115	NC_000008.10:g.90993115C>T	ClinGen:CA461831418	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.327G>T (p.Glu109Asp)	4683	NBN	Uncertain significance	-1	RCV002445752\|RCV003099360;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993115	90993115	90993115	-
NM_002485.5(NBN):c.323T>C (p.Ile108Thr)	4683	NBN	Uncertain significance	775217949	RCV000478600\|RCV000567115\|RCV000818428;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993119	90993119	8:g.90993119A>G	ClinGen:CA4802997	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.322A>G (p.Ile108Val)	4683	NBN	Conflicting interpretations of pathogenicity	1286492027	RCV001213378\|RCV002322033;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993120	90993120	8:g.90993120T>C	-
NM_002485.5(NBN):c.322A>C (p.Ile108Leu)	4683	NBN	Uncertain significance	1286492027	RCV001359887;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993120	90993120	90993120	-
NM_002485.5(NBN):c.321A>G (p.Arg107=)	4683	NBN	Uncertain significance	1812034788	RCV001238448;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993121	90993121	8:g.90993121T>C	-
NM_002485.5(NBN):c.321-2A>G	4683	NBN	Likely pathogenic	587777931	RCV000119854\|RCV002514610\|RCV003162555;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993123	90993123	NC_000008.10:g.90993123T>C	ClinGen:CA156443	CN169374 not specified;
NM_002485.5(NBN):c.321-3C>T	4683	NBN	Uncertain significance	751356470	RCV000220537\|RCV000205632\|RCV000560944\|RCV002222443\|RCV003468940;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90993124	90993124	8:g.90993124G>A	ClinGen:CA349762	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.321-3C>G	4683	NBN	Uncertain significance	-1	RCV003017791\|RCV003170850;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993124	90993124	NC_000008.10:g.90993124G>C	-
NM_002485.5(NBN):c.321-11_321-6del	4683	NBN	Uncertain significance	1812035299	RCV001034874;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993127	90993132	8:g.90993127_90993132del	-
NM_002485.5(NBN):c.321-6T>G	4683	NBN	Uncertain significance	-1	RCV002828078;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993127	90993127	NC_000008.10:g.90993127A>C	-
NM_002485.5(NBN):c.321-6T>C	4683	NBN	Likely benign	-1	RCV002872664;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993127	90993127	NC_000008.10:g.90993127A>G	-
NM_002485.5(NBN):c.321-8A>G	4683	NBN	Likely benign	1586107521	RCV001430119;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993129	90993129	8:g.90993129T>C	-
NM_002485.5(NBN):c.321-9C>T	4683	NBN	Likely benign	760664393	RCV002145656;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993130	90993130	90993130	-
NM_002485.5(NBN):c.321-13T>C	4683	NBN	Likely benign	1563579693	RCV002128070;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993134	90993134	90993134	-
NM_002485.5(NBN):c.321-16T>G	4683	NBN	Likely benign	-1	RCV002663457;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993137	90993137	NC_000008.10:g.90993137A>C	-
NM_002485.5(NBN):c.321-17C>G	4683	NBN	Conflicting interpretations of pathogenicity	763878712	RCV000434657\|RCV000679463\|RCV001800667;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993138	90993138	8:g.90993138G>C	ClinGen:CA4803000	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.320+40G>T	4683	NBN	Likely benign	749797574	RCV000988089;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993563	90993563	8:g.90993563C>A	-
NM_002485.5(NBN):c.320+19G>T	4683	NBN	Likely benign	1298984330	RCV002197550;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993584	90993584	90993584	-
NM_002485.5(NBN):c.320+16A>G	4683	NBN	Likely benign	1461131932	RCV002559724;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993587	90993587	8:g.90993587T>C	-
NM_002485.5(NBN):c.320+14A>G	4683	NBN	Likely benign	-1	RCV003067715;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993589	90993589	NC_000008.10:g.90993589T>C	-
NC_000008.10:g.(?_90993593)_(90996789_?)dup	4683	NBN	Uncertain significance	-1	RCV002019443;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993593	90996789	-1	-
NM_002485.5(NBN):c.320+8A>G	4683	NBN	Likely benign	1057523296	RCV000422765\|RCV001422551;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993595	90993595	8:g.90993595T>C	ClinGen:CA16605520	CN169374 not specified;
NM_002485.5(NBN):c.320+7C>A	4683	NBN	Likely benign	-1	RCV002823957;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993596	90993596	NC_000008.10:g.90993596G>T	-
NM_002485.5(NBN):c.320+7C>T	4683	NBN	Likely benign	-1	RCV002863589;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993596	90993596	NC_000008.10:g.90993596G>A	-
NM_002485.5(NBN):c.320+6A>G	4683	NBN	Uncertain significance	757321173	RCV000543236\|RCV000775392;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993597	90993597	NC_000008.10:g.90993597T>C	ClinGen:CA4803011	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NC_000008.10:g.(?_90993597)_(90996795_?)dup	4683	NBN	Uncertain significance	-1	RCV000636821;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993597	90996795		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.320+5G>T	4683	NBN	Uncertain significance	1563580422	RCV000772884\|RCV002534039;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993598	90993598	NC_000008.10:g.90993598C>A	-
NM_002485.5(NBN):c.320+4A>G	4683	NBN	Uncertain significance	-1	RCV002810428;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993599	90993599	NC_000008.10:g.90993599T>C	-
NM_002485.5(NBN):c.320+1G>A	4683	NBN	Likely pathogenic	1364533250	RCV000564864\|RCV001276022;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993602	90993602	8:g.90993602C>T	ClinGen:CA371662236	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.320G>A (p.Arg107Lys)	4683	NBN	Conflicting interpretations of pathogenicity	1345924774	RCV001019241\|RCV001228207;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993603	90993603	8:g.90993603C>T	-
NM_002485.5(NBN):c.317dup (p.Arg107fs)	4683	NBN	Pathogenic/Likely pathogenic	745355767	RCV000409799\|RCV002505995;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065, Orphanet:513; MONDO:MONDO:0009623,Med	8	90993605	90993606	NC_000008.10:g.90993607dup	ClinGen:CA4803012	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.318C>G (p.Phe106Leu)	4683	NBN	Uncertain significance	1161413131	RCV001937888;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993605	90993605	90993605	-
NM_002485.5(NBN):c.315A>G (p.Lys105=)	4683	NBN	Conflicting interpretations of pathogenicity	13312858	RCV000567799\|RCV000707282;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993608	90993608	8:g.90993608T>C	ClinGen:CA461831423	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.313A>T (p.Lys105Ter)	4683	NBN	Likely pathogenic	-1	RCV002310521;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993610	90993610	90993610	-
NM_002485.5(NBN):c.311G>C (p.Ser104Thr)	4683	NBN	Uncertain significance	778943002	RCV001977171\|RCV003355718;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993612	90993612	90993612	-
NM_002485.5(NBN):c.310A>G (p.Ser104Gly)	4683	NBN	Uncertain significance	876658400	RCV000220892\|RCV000803693;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993613	90993613	8:g.90993613T>C	ClinGen:CA10578805	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.309A>T (p.Gly103=)	4683	NBN	Likely benign	2129914059	RCV001428828\|RCV003284320;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993614	90993614	90993614	-
NM_002485.5(NBN):c.308G>T (p.Gly103Val)	4683	NBN	Uncertain significance	1554568272	RCV000636762\|RCV000985876;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN517202	8	90993615	90993615	8:g.90993615C>A	ClinGen:CA371662299	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.307G>A (p.Gly103Arg)	4683	NBN	Uncertain significance	2129914127	RCV001981853;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993616	90993616	90993616	-
NM_002485.5(NBN):c.307G>T (p.Gly103Ter)	4683	NBN	Likely pathogenic	-1	RCV002307901;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993616	90993616	90993616	-
NM_002485.5(NBN):c.306del (p.Phe102fs)	4683	NBN	Pathogenic/Likely pathogenic	587781305	RCV000129019\|RCV000478932\|RCV000668848\|RCV003467101;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90993617	90993617	8:g.90993617_90993617del	ClinGen:CA163677	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.306T>C (p.Phe102=)	4683	NBN	Likely benign	1554568276	RCV000575931\|RCV000940896\|RCV001355058;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0007254,MedGen:C0006142	8	90993617	90993617	NC_000008.10:g.90993617A>G	ClinGen:CA461831429	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.304T>C (p.Phe102Leu)	4683	NBN	Uncertain significance	1554568285	RCV000569484\|RCV001193650\|RCV001800787;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993619	90993619	NC_000008.10:g.90993619A>G	ClinGen:CA371662321	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.303G>T (p.Val101=)	4683	NBN	Likely benign	1554568287	RCV000564697\|RCV001475451;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993620	90993620	8:g.90993620C>A	ClinGen:CA461831432	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.303G>A (p.Val101=)	4683	NBN	Likely benign	-1	RCV002889955;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993620	90993620		-
NM_002485.5(NBN):c.302T>C (p.Val101Ala)	4683	NBN	Uncertain significance	185493105	RCV000164413\|RCV000467071\|RCV000679462\|RCV003321528\|RCV003474859;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90993621	90993621	8:g.90993621A>G	ClinGen:CA190887	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.302T>G (p.Val101Gly)	4683	NBN	Uncertain significance	185493105	RCV000536492;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993621	90993621	NC_000008.10:g.90993621A>C	ClinGen:CA371662326	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.301G>A (p.Val101Met)	4683	NBN	Uncertain significance	786202139	RCV000164802\|RCV000636741\|RCV001770126;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90993622	90993622	8:g.90993622C>T	ClinGen:CA191801	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.299G>C (p.Gly100Ala)	4683	NBN	Uncertain significance	2129914264	RCV001964381;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993624	90993624	90993624	-
NM_002485.5(NBN):c.298G>T (p.Gly100Ter)	4683	NBN	Pathogenic	2129914287	RCV001864972\|RCV002440930;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993625	90993625	90993625	-
NM_002485.5(NBN):c.297T>C (p.Phe99=)	4683	NBN	Conflicting interpretations of pathogenicity	1563580668	RCV000772238\|RCV001413593\|RCV002225725;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	8	90993626	90993626	NC_000008.10:g.90993626A>G	-
NM_002485.5(NBN):c.296T>A (p.Phe99Tyr)	4683	NBN	Uncertain significance	1187898389	RCV000574101\|RCV000796681;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993627	90993627	8:g.90993627A>T	ClinGen:CA371662351	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.292A>C (p.Thr98Pro)	4683	NBN	Uncertain significance	1060503453	RCV000475140\|RCV002436459;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993631	90993631	NC_000008.10:g.90993631T>G	ClinGen:CA16612676	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.291T>G (p.Ile97Met)	4683	NBN	Uncertain significance	1812056882	RCV001346958;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993632	90993632	90993632	-
NM_002485.5(NBN):c.290T>C (p.Ile97Thr)	4683	NBN	Uncertain significance	1554568295	RCV000560465;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993633	90993633	8:g.90993633A>G	ClinGen:CA371662385	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.289A>G (p.Ile97Val)	4683	NBN	Conflicting interpretations of pathogenicity	730881855	RCV000160793\|RCV000636730\|RCV002433715;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993634	90993634	NC_000008.10:g.90993634T>C	ClinGen:CA299627	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.286G>A (p.Gly96Ser)	4683	NBN	Conflicting interpretations of pathogenicity	730882133	RCV000161942\|RCV000574837\|RCV002478492;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90993637	90993637	8:g.90993637C>T	ClinGen:CA333815	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.284A>G (p.Asp95Gly)	4683	NBN	Uncertain significance	545276922	RCV000130482\|RCV000459979\|RCV000486308\|RCV001193649\|RCV003474763;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90993639	90993639	8:g.90993639T>C	ClinGen:CA166516	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)	4683	NBN	Conflicting interpretations of pathogenicity	61753720	RCV000115792\|RCV000121616\|RCV000123216\|RCV000588621;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90993640	90993640	8:g.90993640C>T	ClinGen:CA160975,UniProtKB:O60934#VAR_025793	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.283G>C (p.Asp95His)	4683	NBN	Uncertain significance	61753720	RCV000699951\|RCV002440502\|RCV002509518;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90993640	90993640	8:g.90993640C>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.283del (p.Asp95fs)	4683	NBN	Pathogenic	2129914556	RCV001944907;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993640	90993640	90993639	-
NM_002485.5(NBN):c.282G>C (p.Gly94=)	4683	NBN	Likely benign	2129914580	RCV002568796;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993641	90993641	90993641	-
NM_002485.5(NBN):c.280G>C (p.Gly94Arg)	4683	NBN	Uncertain significance	1563580785	RCV001035742;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993643	90993643	8:g.90993643C>G	-
NM_002485.5(NBN):c.279G>A (p.Ser93=)	4683	NBN	Benign/Likely benign	587780781	RCV000123215\|RCV000165927\|RCV000604024;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90993644	90993644	8:g.90993644C>T	ClinGen:CA194550	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.278C>T (p.Ser93Leu)	4683	NBN	Conflicting interpretations of pathogenicity	12721593	RCV000131226\|RCV000193311\|RCV000168344\|RCV000586867\|RCV001354986;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142	8	90993645	90993645	8:g.90993645G>A	ClinGen:CA206703,UniProtKB:O60934#VAR_025792	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.278C>A (p.Ser93Ter)	4683	NBN	Pathogenic/Likely pathogenic	12721593	RCV001884264\|RCV003470998;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90993645	90993645	90993645	-
NM_002485.5(NBN):c.275A>G (p.Lys92Arg)	4683	NBN	Uncertain significance	1554568311	RCV000566890\|RCV001853783;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993648	90993648	8:g.90993648T>C	ClinGen:CA371662427	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.273G>A (p.Leu91=)	4683	NBN	Likely benign	1586108624	RCV000933858;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993650	90993650	8:g.90993650C>T	-
NM_002485.5(NBN):c.272del (p.Thr90_Leu91insTer)	4683	NBN	Pathogenic	1586108633	RCV001016416\|RCV001057028;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993651	90993651	8:g.90993651_90993651del	-
NM_002485.5(NBN):c.270T>A (p.Thr90=)	4683	NBN	Likely benign	776469548	RCV000925079\|RCV003169326;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993653	90993653	8:g.90993653A>T	-
NM_002485.5(NBN):c.270T>G (p.Thr90=)	4683	NBN	Likely benign	776469548	RCV001493715;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993653	90993653	90993653	-
NM_002485.5(NBN):c.269C>T (p.Thr90Ile)	4683	NBN	Uncertain significance	1812059152	RCV001327075;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993654	90993654	90993654	-
NM_002485.5(NBN):c.267A>G (p.Arg89=)	4683	NBN	Likely benign	1554568316	RCV000558967\|RCV000773654\|RCV001175051;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	8	90993656	90993656	8:g.90993656T>C	ClinGen:CA461831457	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.267A>C (p.Arg89=)	4683	NBN	Likely benign	1554568316	RCV001411848;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993656	90993656	90993656	-
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)	4683	NBN	Conflicting interpretations of pathogenicity	747315554	RCV000164059\|RCV000473711\|RCV000483231\|RCV001354099;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142	8	90993657	90993657	8:g.90993657C>G	ClinGen:CA189935	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.266G>A (p.Arg89Gln)	4683	NBN	Conflicting interpretations of pathogenicity	747315554	RCV000204158\|RCV000215544\|RCV002466468;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90993657	90993657	8:g.90993657C>T	ClinGen:CA348406	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)	4683	NBN	Pathogenic/Likely pathogenic	1057516320	RCV000410234\|RCV001176293\|RCV001782863\|RCV002504201\|RCV003168586\|RCV003470325;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MON	8	90993658	90993658	8:g.90993658G>A	ClinGen:CA16041212	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.264C>T (p.Ser88=)	4683	NBN	Likely benign	2129914967	RCV002164353\|RCV002454553;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993659	90993659	90993659	-
NM_002485.5(NBN):c.263C>T (p.Ser88Phe)	4683	NBN	Uncertain significance	1812059810	RCV001187415\|RCV001862951;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993660	90993660	8:g.90993660G>A	-
NM_002485.5(NBN):c.260T>C (p.Phe87Ser)	4683	NBN	Uncertain significance	786203573	RCV000166951\|RCV000475158\|RCV001280994\|RCV003468795;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C00	8	90993663	90993663	8:g.90993663A>G	ClinGen:CA197121	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.256G>C (p.Gly86Arg)	4683	NBN	Uncertain significance	2129915101	RCV001916561;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993667	90993667	90993667	-
NM_002485.5(NBN):c.254A>G (p.Asn85Ser)	4683	NBN	Conflicting interpretations of pathogenicity	587780095	RCV000115791\|RCV000214236\|RCV000231493\|RCV001800403;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90993669	90993669	8:g.90993669T>C	ClinGen:CA287928	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.251A>G (p.Gln84Arg)	4683	NBN	Uncertain significance	762702597	RCV000580048\|RCV001800798;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993672	90993672	NC_000008.10:g.90993672T>C	ClinGen:CA4803015	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.250C>T (p.Gln84Ter)	4683	NBN	Pathogenic	1586108714	RCV000804317\|RCV003166237;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	8	90993673	90993673	8:g.90993673G>A	-
NM_002485.5(NBN):c.250C>A (p.Gln84Lys)	4683	NBN	Uncertain significance	1586108714	RCV001175414\|RCV001239604\|RCV002436731;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993673	90993673	8:g.90993673G>T	-
NM_002485.5(NBN):c.249G>A (p.Met83Ile)	4683	NBN	Uncertain significance	1438838735	RCV000566420\|RCV000806996\|RCV001770504;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90993674	90993674	8:g.90993674C>T	ClinGen:CA371662482	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.248T>A (p.Met83Lys)	4683	NBN	Uncertain significance	940160589	RCV000574610\|RCV001065058;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993675	90993675	8:g.90993675A>T	ClinGen:CA181280587	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.247dup (p.Met83fs)	4683	NBN	Pathogenic	-1	RCV003054032;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993675	90993676	NC_000008.10:g.90993681dup	-
NM_002485.5(NBN):c.247A>G (p.Met83Val)	4683	NBN	Uncertain significance	955258267	RCV000561949\|RCV001064087\|RCV001284194\|RCV003465202;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90993676	90993676	NC_000008.10:g.90993676T>C	ClinGen:CA371662485	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.247A>T (p.Met83Leu)	4683	NBN	Uncertain significance	955258267	RCV000570692\|RCV000636702\|RCV003322792\|RCV003465240;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90993676	90993676	NC_000008.10:g.90993676T>A	ClinGen:CA181280588	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.244A>G (p.Lys82Glu)	4683	NBN	Uncertain significance	193921030	RCV000149134\|RCV000667547;	N	Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807, Orphanet:1331\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993679	90993679	NC_000008.10:g.90993679T>C	ClinGen:CA174421	C0376358 176807 Malignant tumor of prostate;
NM_002485.5(NBN):c.243A>G (p.Glu81=)	4683	NBN	Likely benign	786203921	RCV000167436\|RCV002053994;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993680	90993680	8:g.90993680T>C	ClinGen:CA198306	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.242A>G (p.Glu81Gly)	4683	NBN	Uncertain significance	786202085	RCV000164724\|RCV001850303;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993681	90993681	8:g.90993681T>C	ClinGen:CA191642	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.242A>T (p.Glu81Val)	4683	NBN	Uncertain significance	786202085	RCV001878678;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993681	90993681	90993681	-
NM_002485.5(NBN):c.241G>C (p.Glu81Gln)	4683	NBN	Uncertain significance	1064795037	RCV000774907\|RCV001045961;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993682	90993682	NC_000008.10:g.90993682C>G	-
NM_002485.5(NBN):c.241G>T (p.Glu81Ter)	4683	NBN	Pathogenic	1064795037	RCV000794512;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993682	90993682	8:g.90993682C>A	-
NM_002485.5(NBN):c.240G>A (p.Glu80=)	4683	NBN	Likely benign	2129915401	RCV001475820;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993683	90993683	90993683	-
NM_002485.5(NBN):c.235A>G (p.Asn79Asp)	4683	NBN	Conflicting interpretations of pathogenicity	786202749	RCV000165721\|RCV000812346\|RCV003153447;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	8	90993688	90993688	8:g.90993688T>C	ClinGen:CA194070	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.235A>C (p.Asn79His)	4683	NBN	Uncertain significance	786202749	RCV000478498\|RCV000636765\|RCV001015283;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993688	90993688	8:g.90993688T>G	ClinGen:CA16618713	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.234T>C (p.Val78=)	4683	NBN	Likely benign	-1	RCV003011245;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993689	90993689		-
NM_002485.5(NBN):c.231dup (p.Val78fs)	4683	NBN	Pathogenic	1586108827	RCV000799598;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993691	90993692	8:g.90993691_90993692insA	-
NM_002485.5(NBN):c.228_231dup (p.Val78fs)	4683	NBN	Pathogenic	2129915522	RCV001389521\|RCV002449079;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993691	90993692	90993691	-
NM_002485.5(NBN):c.231T>A (p.Phe77Leu)	4683	NBN	Uncertain significance	1554568336	RCV000568222\|RCV001755948\|RCV001800786;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993692	90993692	8:g.90993692A>T	ClinGen:CA371662521	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.228C>T (p.Thr76=)	4683	NBN	Likely benign	1586108833	RCV001423431\|RCV002445087;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993695	90993695	8:g.90993695G>A	-
NM_002485.5(NBN):c.227C>A (p.Thr76Asn)	4683	NBN	Uncertain significance	587781412	RCV000129274\|RCV000200027\|RCV000212727\|RCV003474744;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90993696	90993696	8:g.90993696G>T	ClinGen:CA294017	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.227C>T (p.Thr76Ile)	4683	NBN	Uncertain significance	587781412	RCV000478706\|RCV000573181\|RCV000636706;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993696	90993696	8:g.90993696G>A	ClinGen:CA16618714	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.226dup (p.Thr76fs)	4683	NBN	Pathogenic	1554568340	RCV000546587;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993696	90993697	8:g.90993696_90993697insT	ClinGen:CA658657792	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.225T>C (p.Gly75=)	4683	NBN	Likely benign	-1	RCV002443721\|RCV003098759;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993698	90993698		-
NM_002485.5(NBN):c.224G>C (p.Gly75Ala)	4683	NBN	Uncertain significance	587782179	RCV000130798\|RCV000197450\|RCV000213490\|RCV001193077\|RCV003474770;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90993699	90993699	8:g.90993699C>G	ClinGen:CA167130	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.222T>G (p.Tyr74Ter)	4683	NBN	Pathogenic	1563581193	RCV000696443;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993701	90993701	8:g.90993701A>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.222T>C (p.Tyr74=)	4683	NBN	Likely benign	1563581193	RCV000875675\|RCV001180440;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993701	90993701	8:g.90993701A>G	-
NM_002485.5(NBN):c.221A>G (p.Tyr74Cys)	4683	NBN	Uncertain significance	1060503471	RCV000457973;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993702	90993702	NC_000008.10:g.90993702T>C	ClinGen:CA16612555	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.220T>C (p.Tyr74His)	4683	NBN	Uncertain significance	587780094	RCV000115790\|RCV000219762\|RCV000229027\|RCV001193075\|RCV002477281\|RCV003467060;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:000191	8	90993703	90993703	8:g.90993703A>G	ClinGen:CA287925	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.219G>A (p.Lys73=)	4683	NBN	Likely benign	1586108899	RCV001406043;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993704	90993704	8:g.90993704C>T	-
NM_002485.5(NBN):c.216_217insTT (p.Lys73fs)	4683	NBN	Pathogenic/Likely pathogenic	1554568348	RCV000668995;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993706	90993707	8:g.90993706_90993707insAA	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.217A>T (p.Lys73Ter)	4683	NBN	Pathogenic/Likely pathogenic	2129915767	RCV002568061\|RCV003470849;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90993706	90993706	90993706	-
NM_002485.5(NBN):c.214_216del (p.Ser72del)	4683	NBN	Uncertain significance	-1	RCV002870773;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993707	90993709	NC_000008.10:g.90993708_90993710del	-
NM_002485.5(NBN):c.215C>T (p.Ser72Phe)	4683	NBN	Uncertain significance	1060503484	RCV000462437\|RCV000572489;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993708	90993708	NC_000008.10:g.90993708G>A	ClinGen:CA16612677	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.212_215del (p.Asn71fs)	4683	NBN	Pathogenic/Likely pathogenic	1064795634	RCV000478442\|RCV000688577;	N	MedGen:CN517202\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993708	90993711	8:g.90993708_90993711del	ClinGen:CA16618715	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.214_215insGGAACCGCTCGGGGCAGC (p.Ser72delinsTrpAsnArgSerGlyGlnPro)	4683	NBN	Uncertain significance	1554568352	RCV000674860;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993708	90993709	8:g.90993708_90993709insGCTGCCCCGAGCGGTTCC	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)	4683	NBN	Pathogenic/Likely pathogenic	762664474	RCV000200419\|RCV001014466\|RCV002503780\|RCV003474955;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:00	8	90993711	90993712	8:g.90993711_90993712insTC	ClinGen:CA339301	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.210_211dup (p.Asn71fs)	4683	NBN	Pathogenic	786202494	RCV001950828;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993711	90993712	90993711	-
NM_002485.5(NBN):c.205_212del (p.Lys69fs)	4683	NBN	Pathogenic	2129915884	RCV001884586;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993711	90993718	90993710	-
NM_002485.5(NBN):c.212A>C (p.Asn71Thr)	4683	NBN	Uncertain significance	-1	RCV002801516;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993711	90993711	NC_000008.10:g.90993711T>G	-
NM_002485.5(NBN):c.212A>G (p.Asn71Ser)	4683	NBN	Uncertain significance	-1	RCV003048555;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993711	90993711	NC_000008.10:g.90993711T>C	-
NM_002485.5(NBN):c.210_211del (p.Asp70fs)	4683	NBN	Pathogenic/Likely pathogenic	786202494	RCV000165335\|RCV000457752\|RCV000679458;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90993712	90993713	8:g.90993712_90993713del	ClinGen:CA193122	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.210T>G (p.Asp70Glu)	4683	NBN	Uncertain significance	1554568357	RCV000575857\|RCV001800772;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993713	90993713	NC_000008.10:g.90993713A>C	ClinGen:CA371662564	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.210T>C (p.Asp70=)	4683	NBN	Likely benign	-1	RCV002706627;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993713	90993713		-
NM_002485.5(NBN):c.209A>G (p.Asp70Gly)	4683	NBN	Uncertain significance	1586108952	RCV000802204\|RCV003307467;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993714	90993714	8:g.90993714T>C	-
NM_002485.5(NBN):c.208_209insTA (p.Asp70fs)	4683	NBN	Pathogenic	2129915990	RCV001951046;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993714	90993715	90993714	-
NM_002485.5(NBN):c.208G>A (p.Asp70Asn)	4683	NBN	Uncertain significance	560337591	RCV000815138\|RCV002256540;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993715	90993715	8:g.90993715C>T	-
NM_002485.5(NBN):c.207A>G (p.Lys69=)	4683	NBN	Conflicting interpretations of pathogenicity	754352569	RCV000507040\|RCV000808156;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993716	90993716	NC_000008.10:g.90993716T>C	ClinGen:CA4803020	CN517202 not provided;
NM_002485.5(NBN):c.204A>T (p.Leu68Phe)	4683	NBN	Uncertain significance	786201800	RCV000164274\|RCV001850292;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993719	90993719	8:g.90993719T>A	ClinGen:CA190510	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.204A>G (p.Leu68=)	4683	NBN	Likely benign	786201800	RCV001185835\|RCV002068423;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993719	90993719	8:g.90993719T>C	-
NM_002485.5(NBN):c.202T>G (p.Leu68Val)	4683	NBN	Uncertain significance	1200599843	RCV000544879\|RCV003470738;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90993721	90993721	8:g.90993721A>C	ClinGen:CA371662582	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.200C>T (p.Thr67Ile)	4683	NBN	Uncertain significance	1015793589	RCV000813374\|RCV002422804;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993723	90993723	8:g.90993723G>A	-
NM_002485.5(NBN):c.199A>G (p.Thr67Ala)	4683	NBN	Uncertain significance	876660922	RCV000220748\|RCV000636750;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993724	90993724	8:g.90993724T>C	ClinGen:CA10578807	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.198G>A (p.Leu66=)	4683	NBN	Likely benign	757735005	RCV001013967\|RCV001426741;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993725	90993725	8:g.90993725C>T	-
NM_002485.5(NBN):c.197T>G (p.Leu66Trp)	4683	NBN	Uncertain significance	1812065476	RCV001047145;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993726	90993726	8:g.90993726A>C	-
NM_002485.5(NBN):c.195A>G (p.Val65=)	4683	NBN	Likely benign	1385971118	RCV000561679\|RCV001448150;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993728	90993728	8:g.90993728T>C	ClinGen:CA461831495	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.194T>A (p.Val65Glu)	4683	NBN	Uncertain significance	1563581457	RCV000700707\|RCV002422565\|RCV003465614;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90993729	90993729	8:g.90993729A>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.193G>A (p.Val65Ile)	4683	NBN	Conflicting interpretations of pathogenicity	778998026	RCV000565097\|RCV001039847;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993730	90993730	NC_000008.10:g.90993730C>T	ClinGen:CA4803022	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.193G>T (p.Val65Leu)	4683	NBN	Uncertain significance	778998026	RCV001322027;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993730	90993730	90993730	-
NM_002485.5(NBN):c.192T>C (p.Pro64=)	4683	NBN	Likely benign	1554568378	RCV000874884;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993731	90993731	8:g.90993731A>G	-
NM_002485.5(NBN):c.191C>G (p.Pro64Arg)	4683	NBN	Uncertain significance	1563581492	RCV000688507\|RCV001805805;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993732	90993732	NC_000008.10:g.90993732G>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.191C>T (p.Pro64Leu)	4683	NBN	Uncertain significance	1563581492	RCV000772229\|RCV001217448;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993732	90993732	NC_000008.10:g.90993732G>A	-
NM_002485.5(NBN):c.190C>T (p.Pro64Ser)	4683	NBN	Uncertain significance	267602038	RCV000670697\|RCV001013653;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993733	90993733	8:g.90993733G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.190C>G (p.Pro64Ala)	4683	NBN	Uncertain significance	267602038	RCV001901893;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993733	90993733	90993733	-
NM_002485.5(NBN):c.189C>A (p.Ile63=)	4683	NBN	Likely benign	1554568383	RCV000526790;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993734	90993734	NC_000008.10:g.90993734G>T	ClinGen:CA461831501	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.189C>T (p.Ile63=)	4683	NBN	Conflicting interpretations of pathogenicity	1554568383	RCV001284191\|RCV001426679\|RCV001524765;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90993734	90993734	90993734	-
NM_002485.5(NBN):c.188del (p.Ile63fs)	4683	NBN	Pathogenic/Likely pathogenic	876659592	RCV000221586\|RCV000636697\|RCV000657396\|RCV001270988\|RCV003475023;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN221562\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90993735	90993735	8:g.90993735_90993735del	ClinGen:CA10578808	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.188T>A (p.Ile63Asn)	4683	NBN	Uncertain significance	961554359	RCV000698049\|RCV000772344\|RCV003460952;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90993735	90993735	NC_000008.10:g.90993735A>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.186A>C (p.Glu62Asp)	4683	NBN	Uncertain significance	1586109110	RCV000821079;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993737	90993737	8:g.90993737T>G	-
NM_002485.5(NBN):c.185A>T (p.Glu62Val)	4683	NBN	Uncertain significance	1812067152	RCV002407030\|RCV001911600;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993738	90993738	90993738	-
NM_002485.5(NBN):c.183del (p.Asp61fs)	4683	NBN	Pathogenic	587782147	RCV000130711\|RCV002514735;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993740	90993740	NC_000008.10:g.90993740del	ClinGen:CA166956	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.183T>C (p.Asp61=)	4683	NBN	Likely benign	2129916430	RCV001432396;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993740	90993740	90993740	-
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)	4683	NBN	Pathogenic/Likely pathogenic	768378152	RCV000166151\|RCV000672694\|RCV003468774;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90993741	90993742	8:g.90993741_90993742del	ClinGen:CA195119	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.182A>G (p.Asp61Gly)	4683	NBN	Uncertain significance	1460282206	RCV000772939\|RCV001056239;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993741	90993741	NC_000008.10:g.90993741T>C	-
NM_002485.5(NBN):c.181G>C (p.Asp61His)	4683	NBN	Uncertain significance	-1	RCV002735152;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993742	90993742	NC_000008.10:g.90993742C>G	-
NM_002485.5(NBN):c.177_180del (p.Thr60fs)	4683	NBN	Pathogenic	-1	RCV003003170;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993743	90993746	NC_000008.10:g.90993745_90993748del	-
NM_002485.5(NBN):c.178dup (p.Thr60fs)	4683	NBN	Likely pathogenic	1057516392	RCV000412330;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993744	90993745	NC_000008.10:g.90993747dup	ClinGen:CA16041213	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.177A>G (p.Gln59=)	4683	NBN	Likely benign	758457183	RCV001437350;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993746	90993746	90993746	-
NM_002485.5(NBN):c.175C>T (p.Gln59Ter)	4683	NBN	Pathogenic/Likely pathogenic	1554568427	RCV000586448\|RCV000688264\|RCV001013002\|RCV003471944\|RCV003133388;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0	8	90993748	90993748	NC_000008.10:g.90993748G>A	ClinGen:CA371662638	C0677776 Hereditary breast and ovarian cancer syndrome;
NM_002485.5(NBN):c.175C>G (p.Gln59Glu)	4683	NBN	Uncertain significance	1554568427	RCV001911649\|RCV002511110;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90993748	90993748	90993748	-
NM_002485.5(NBN):c.172-1G>T	4683	NBN	Likely pathogenic	1391598284	RCV001378799;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993752	90993752	90993752	-
NM_002485.5(NBN):c.172-1G>A	4683	NBN	Likely pathogenic	1391598284	RCV002048065;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993752	90993752	90993752	-
NM_002485.5(NBN):c.172-2A>T	4683	NBN	Likely pathogenic	2129916685	RCV001961761;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993753	90993753	90993753	-
NM_002485.5(NBN):c.172-3C>T	4683	NBN	Conflicting interpretations of pathogenicity	587781620	RCV000129710\|RCV000330677\|RCV000832940;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90993754	90993754	8:g.90993754G>A	ClinGen:CA164959	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.172-3C>G	4683	NBN	Uncertain significance	587781620	RCV001964330;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993754	90993754	90993754	-
NM_002485.5(NBN):c.172-5_172-4del	4683	NBN	Uncertain significance	-1	RCV002881024;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993755	90993756	NC_000008.10:g.90993757_90993758del	-
NM_002485.5(NBN):c.172-8C>G	4683	NBN	Uncertain significance	1335357045	RCV000809715;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993759	90993759	8:g.90993759G>C	-
NM_002485.5(NBN):c.172-8C>A	4683	NBN	Likely benign	1335357045	RCV001497851;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993759	90993759	90993759	-
NM_002485.5(NBN):c.172-12C>G	4683	NBN	Likely benign	1363297893	RCV001869077;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993763	90993763	NC_000008.10:g.90993763G>C	-
NM_002485.5(NBN):c.172-16T>C	4683	NBN	Likely benign	2129916835	RCV002081845;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993767	90993767	90993767	-
NM_002485.5(NBN):c.172-17A>G	4683	NBN	Likely benign	368471581	RCV002154265;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993768	90993768	90993768	-
NM_002485.5(NBN):c.172-17del	4683	NBN	Likely benign	-1	RCV002615250;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993768	90993768	NC_000008.10:g.90993768del	-
NM_002485.5(NBN):c.172-19T>A	4683	NBN	Likely benign	2129916862	RCV002101117;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993770	90993770	90993770	-
NM_002485.5(NBN):c.172-28_172-20del	4683	NBN	Likely benign	774151023	RCV002536699;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90993771	90993779	NC_000008.10:g.90993774_90993782del	-
NM_002485.5(NBN):c.172-529G>A	4683	NBN	Likely benign	104895039	RCV000114883\|RCV000672224;	N	MedGen:CN517202\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994280	90994280	8:g.90994280C>T	ClinGen:CA230740	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.171+19T>C	4683	NBN	Likely benign	-1	RCV002637699;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994931	90994931	NC_000008.10:g.90994931A>G	-
NM_002485.5(NBN):c.171+12A>G	4683	NBN	Likely benign	922134221	RCV000443198\|RCV001861550;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994938	90994938	8:g.90994938T>C	ClinGen:CA16605273	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.171+11A>C	4683	NBN	Likely benign	-1	RCV002991767;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994939	90994939	NC_000008.10:g.90994939T>G	-
NM_002485.5(NBN):c.171+9C>T	4683	NBN	Likely benign	1057522123	RCV000445325\|RCV001394158;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994941	90994941	8:g.90994941G>A	ClinGen:CA16606150	CN169374 not specified;
NM_002485.5(NBN):c.171+8dup	4683	NBN	Likely benign	2129923970	RCV002094827;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994941	90994942	90994941	-
NM_002485.5(NBN):c.171+4T>C	4683	NBN	Conflicting interpretations of pathogenicity	587782290	RCV000131170\|RCV000205676\|RCV000590607;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90994946	90994946	8:g.90994946A>G	ClinGen:CA167713	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.171+4T>A	4683	NBN	Uncertain significance	587782290	RCV001875258\|RCV002397843;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90994946	90994946	90994946	-
NM_002485.5(NBN):c.163_171+3del	4683	NBN	Pathogenic/Likely pathogenic	1057516772	RCV000409755\|RCV000566032\|RCV003475956;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90994947	90994958	NC_000008.10:g.90994950_90994961del	ClinGen:CA16041214	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.171+3A>G	4683	NBN	Conflicting interpretations of pathogenicity	1487002693	RCV000580790\|RCV001229330\|RCV003459435;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90994947	90994947	8:g.90994947T>C	ClinGen:CA658683518	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.171+1G>A	4683	NBN	Likely pathogenic	931715719	RCV000409002\|RCV000759169\|RCV001012839\|RCV003475941;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90994949	90994949	8:g.90994949C>T	ClinGen:CA16041215	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.171+1G>T	4683	NBN	Likely pathogenic	931715719	RCV002034356;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994949	90994949	90994949	-
NM_002485.5(NBN):c.171+1G>C	4683	NBN	Likely pathogenic	931715719	RCV002034449;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994949	90994949	90994949	-
NM_002485.5(NBN):c.171G>T (p.Leu57=)	4683	NBN	Uncertain significance	1554569001	RCV000571574\|RCV001835852\|RCV003114686\|RCV003225090;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MedGen:C3661900	8	90994950	90994950	NC_000008.10:g.90994950C>A	ClinGen:CA461831509	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.170T>C (p.Leu57Pro)	4683	NBN	Uncertain significance	747920256	RCV000583436\|RCV000636739;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994951	90994951	8:g.90994951A>G	ClinGen:CA4803045	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.169C>T (p.Leu57=)	4683	NBN	Likely benign	1586111504	RCV000981574\|RCV002400151;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90994952	90994952	8:g.90994952G>A	-
NM_002485.5(NBN):c.168C>T (p.Asn56=)	4683	NBN	Likely benign	1586111516	RCV001012740\|RCV001480215;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994953	90994953	8:g.90994953G>A	-
NM_002485.5(NBN):c.168C>A (p.Asn56Lys)	4683	NBN	Uncertain significance	1586111516	RCV002049647;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994953	90994953	90994953	-
NM_002485.5(NBN):c.167A>G (p.Asn56Ser)	4683	NBN	Uncertain significance	1554569009	RCV000636725\|RCV002248838;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90994954	90994954	8:g.90994954T>C	ClinGen:CA371662880	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.165C>T (p.Thr55=)	4683	NBN	Likely benign	1812127469	RCV002169393;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994956	90994956	90994956	-
NM_002485.5(NBN):c.164C>G (p.Thr55Ser)	4683	NBN	Uncertain significance	1812127566	RCV001036960;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994957	90994957	8:g.90994957G>C	-
NM_002485.5(NBN):c.161T>C (p.Val54Ala)	4683	NBN	Uncertain significance	769700749	RCV001306333;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994960	90994960	90994960	-
NM_002485.5(NBN):c.158C>G (p.Ser53Cys)	4683	NBN	Uncertain significance	876660243	RCV001763973\|RCV001885048;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994963	90994963	90994963	-
NM_002485.5(NBN):c.156_157del (p.Ser53fs)	4683	NBN	Pathogenic/Likely pathogenic	767454740	RCV000410370\|RCV000502852\|RCV000584632\|RCV000587195\|RCV000484600\|RCV002252110\|RCV002502428\|RCV003470344;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967,MedGen:C0023449,OMIM:613065, Orphanet:513\|MONDO:MONDO:0015356,MeS	8	90994964	90994965	NC_000008.10:g.90994966_90994967del	ClinGen:CA4803047	C0023449 613065 Acute lymphoid leukemia;
NM_002485.5(NBN):c.157del (p.Ser53fs)	4683	NBN	Pathogenic	767454740	RCV001383919;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994964	90994964	90994963	-
NM_002485.5(NBN):c.156T>C (p.Phe52=)	4683	NBN	Likely benign	777925415	RCV000216110\|RCV001473857;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994965	90994965	8:g.90994965A>G	ClinGen:CA4803048	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.153C>A (p.Asn51Lys)	4683	NBN	Uncertain significance	876661214	RCV000222963\|RCV001854751;	N	MedGen:CN517202\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994968	90994968	8:g.90994968G>T	ClinGen:CA10577370	CN169374 not specified;
NM_002485.5(NBN):c.151A>G (p.Asn51Asp)	4683	NBN	Uncertain significance	-1	RCV003003224;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994970	90994970	NC_000008.10:g.90994970T>C	-
NM_002485.5(NBN):c.150T>C (p.Ala50=)	4683	NBN	Likely benign	1586111590	RCV001472886;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994971	90994971	8:g.90994971A>G	-
NM_002485.5(NBN):c.149C>T (p.Ala50Val)	4683	NBN	Uncertain significance	1554569035	RCV000636752\|RCV001011910;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90994972	90994972	NC_000008.10:g.90994972G>A	ClinGen:CA371662979	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.147T>G (p.Thr49=)	4683	NBN	Likely benign	749206453	RCV000217357\|RCV001445822;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994974	90994974	8:g.90994974A>C	ClinGen:CA10578810	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.147T>A (p.Thr49=)	4683	NBN	Likely benign	749206453	RCV001927881\|RCV002388809;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90994974	90994974	90994974	-
NM_002485.5(NBN):c.146C>T (p.Thr49Ile)	4683	NBN	Uncertain significance	1450189149	RCV001863627;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994975	90994975	90994975	-
NM_002485.5(NBN):c.144_145del (p.Leu48fs)	4683	NBN	Likely pathogenic	-1	RCV002308406;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994976	90994977	90994975	-
NM_002485.5(NBN):c.144A>G (p.Leu48=)	4683	NBN	Likely benign	1563584056	RCV001405150;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994977	90994977	8:g.90994977T>C	-
NM_002485.5(NBN):c.143T>G (p.Leu48Ter)	4683	NBN	Pathogenic	2129924518	RCV001959178;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994978	90994978	90994978	-
NM_002485.5(NBN):c.141_142del (p.Leu48fs)	4683	NBN	Pathogenic/Likely pathogenic	750375741	RCV000657304\|RCV000685564\|RCV000775394\|RCV003465426;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90994979	90994980	8:g.90994979_90994980del	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.141G>C (p.Val47=)	4683	NBN	Likely benign	2129924554	RCV001492128;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994980	90994980	90994980	-
NM_002485.5(NBN):c.139G>C (p.Val47Leu)	4683	NBN	Uncertain significance	876658446	RCV001373822;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994982	90994982	90994982	-
NM_002485.5(NBN):c.136G>C (p.Ala46Pro)	4683	NBN	Uncertain significance	1812129847	RCV001929450\|RCV002386748;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90994985	90994985	90994985	-
NM_002485.5(NBN):c.105_135del (p.Ile35fs)	4683	NBN	Conflicting interpretations of pathogenicity	730881840	RCV000160767\|RCV000664795\|RCV001180837\|RCV003467258;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90994986	90995016	NC_000008.10:g.90994988_90995018del	ClinGen:CA299575	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.135T>C (p.His45=)	4683	NBN	Likely benign	770618624	RCV000582688\|RCV000936992;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994986	90994986	8:g.90994986A>G	ClinGen:CA4803051	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.135T>A (p.His45Gln)	4683	NBN	Uncertain significance	770618624	RCV001901292\|RCV002482751;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967,Med	8	90994986	90994986	90994986	-
NM_002485.5(NBN):c.134A>G (p.His45Arg)	4683	NBN	Uncertain significance	1554569059	RCV000540420;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994987	90994987	NC_000008.10:g.90994987T>C	ClinGen:CA371663027	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.133C>G (p.His45Asp)	4683	NBN	Uncertain significance	773865323	RCV000527832\|RCV000777185;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90994988	90994988	8:g.90994988G>C	ClinGen:CA371663033	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.133C>T (p.His45Tyr)	4683	NBN	Uncertain significance	773865323	RCV003101425\|RCV002259247;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90994988	90994988	90994988	-
NM_002485.5(NBN):c.129A>G (p.Arg43=)	4683	NBN	Likely benign	1327270687	RCV001010591\|RCV001476703;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994992	90994992	8:g.90994992T>C	-
NM_002485.5(NBN):c.129A>C (p.Arg43=)	4683	NBN	Likely benign	1327270687	RCV002135182;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994992	90994992	90994992	-
NM_002485.5(NBN):c.128G>A (p.Arg43Gln)	4683	NBN	Uncertain significance	759146120	RCV000567458\|RCV001304163;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994993	90994993	8:g.90994993C>T	ClinGen:CA4803053	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.128G>T (p.Arg43Leu)	4683	NBN	Uncertain significance	759146120	RCV001235839;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994993	90994993	8:g.90994993C>A	-
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	4683	NBN	Conflicting interpretations of pathogenicity	200287925	RCV000131193\|RCV000409406\|RCV000489509\|RCV003162586\|RCV003467167;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|Human Phenotyp	8	90994994	90994994	8:g.90994994G>A	ClinGen:CA167743	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.126C>T (p.Ser42=)	4683	NBN	Likely benign	2129924815	RCV002175721;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994995	90994995	90994995	-
NM_002485.5(NBN):c.123del (p.Ser42fs)	4683	NBN	Pathogenic/Likely pathogenic	587781891	RCV000130227\|RCV000466522\|RCV000482320\|RCV003460916;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90994998	90994998	8:g.90994998_90994998del	ClinGen:CA165984	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.123C>A (p.Ile41=)	4683	NBN	Likely benign	887413615	RCV000473919\|RCV000575897;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90994998	90994998	NC_000008.10:g.90994998G>T	ClinGen:CA16612385	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.123C>T (p.Ile41=)	4683	NBN	Likely benign	887413615	RCV001010514\|RCV001392666;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994998	90994998	8:g.90994998G>A	-
NM_002485.5(NBN):c.123C>G (p.Ile41Met)	4683	NBN	Uncertain significance	887413615	RCV001976614;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994998	90994998	90994998	-
NM_002485.5(NBN):c.122T>C (p.Ile41Thr)	4683	NBN	Uncertain significance	1554569074	RCV001231264;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90994999	90994999	8:g.90994999A>G	-
NM_002485.5(NBN):c.121A>T (p.Ile41Phe)	4683	NBN	Uncertain significance	1563584220	RCV001856077;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995000	90995000	NC_000008.10:g.90995000T>A	-
NM_002485.5(NBN):c.121A>G (p.Ile41Val)	4683	NBN	Uncertain significance	1563584220	RCV001057800\|RCV001182851;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90995000	90995000	8:g.90995000T>C	-
NM_002485.5(NBN):c.120G>T (p.Ser40=)	4683	NBN	Conflicting interpretations of pathogenicity	774989816	RCV000163710\|RCV000733019\|RCV000988090;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995001	90995001	8:g.90995001C>A	ClinGen:CA189008	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.120G>C (p.Ser40=)	4683	NBN	Likely benign	774989816	RCV000213273\|RCV001417259;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995001	90995001	8:g.90995001C>G	ClinGen:CA10578812	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.120G>A (p.Ser40=)	4683	NBN	Likely benign	774989816	RCV000555139\|RCV000607697\|RCV001010351;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90995001	90995001	NC_000008.10:g.90995001C>T	ClinGen:CA461831543	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.119C>T (p.Ser40Leu)	4683	NBN	Uncertain significance	587781530	RCV000129524\|RCV000232275\|RCV000586924\|RCV000764791\|RCV003467110;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotyp	8	90995002	90995002	8:g.90995002G>A	ClinGen:CA164600	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.116A>T (p.Gln39Leu)	4683	NBN	Uncertain significance	765551184	RCV001059176\|RCV002327330;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90995005	90995005	8:g.90995005T>A	-
NM_002485.5(NBN):c.116A>G (p.Gln39Arg)	4683	NBN	Uncertain significance	-1	RCV002632077\|RCV003167543\|RCV003317617;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90995005	90995005	NC_000008.10:g.90995005T>C	-
NM_002485.5(NBN):c.115C>G (p.Gln39Glu)	4683	NBN	Uncertain significance	377730553	RCV000129719\|RCV000820955;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995006	90995006	8:g.90995006G>C	ClinGen:CA164970	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.115del (p.Gln39fs)	4683	NBN	Pathogenic/Likely pathogenic	864622511	RCV000204010\|RCV003474983;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90995006	90995006	8:g.90995006_90995006del	ClinGen:CA348289	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.115C>A (p.Gln39Lys)	4683	NBN	Uncertain significance	377730553	RCV000636775\|RCV001010019\|RCV003465396;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90995006	90995006	8:g.90995006G>T	ClinGen:CA181281098	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.115C>T (p.Gln39Ter)	4683	NBN	Pathogenic/Likely pathogenic	377730553	RCV001186594\|RCV001862938;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995006	90995006	8:g.90995006G>A	-
NM_002485.5(NBN):c.113_114insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA	4683	NBN	Pathogenic	2129925072	RCV001382770;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995007	90995008	90995007	-
NM_002485.5(NBN):c.113A>T (p.Asp38Val)	4683	NBN	Uncertain significance	2129925061	RCV002025236\|RCV003130657;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90995008	90995008	90995008	-
NM_002485.5(NBN):c.112G>C (p.Asp38His)	4683	NBN	Uncertain significance	876659565	RCV000219457\|RCV001372465;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995009	90995009	8:g.90995009C>G	ClinGen:CA10578813	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.112G>T (p.Asp38Tyr)	4683	NBN	Uncertain significance	-1	RCV002579210;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995009	90995009	NC_000008.10:g.90995009C>A	-
NM_002485.5(NBN):c.111T>A (p.Asn37Lys)	4683	NBN	Uncertain significance	-1	RCV002726667;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995010	90995010	NC_000008.10:g.90995010A>T	-
NM_002485.5(NBN):c.109A>G (p.Asn37Asp)	4683	NBN	Conflicting interpretations of pathogenicity	876658411	RCV000217641\|RCV000469351;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995012	90995012	8:g.90995012T>C	ClinGen:CA10578814	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.105T>G (p.Ile35Met)	4683	NBN	Conflicting interpretations of pathogenicity	78870221	RCV000216738\|RCV000533679\|RCV001570359\|RCV003475034;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90995016	90995016	8:g.90995016A>C	ClinGen:CA4803056	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.105T>A (p.Ile35=)	4683	NBN	Likely benign	78870221	RCV000476795\|RCV000571363\|RCV001712310;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90995016	90995016	8:g.90995016A>T	ClinGen:CA4803057	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.105T>C (p.Ile35=)	4683	NBN	Likely benign	78870221	RCV002148659;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995016	90995016	90995016	-
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)	4683	NBN	Conflicting interpretations of pathogenicity	587780773	RCV000123202\|RCV000221417\|RCV000484131\|RCV001264517\|RCV003467093;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90995017	90995017	8:g.90995017A>G	ClinGen:CA332807	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.103A>T (p.Ile35Phe)	4683	NBN	Uncertain significance	2129925202	RCV001902915;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995018	90995018	90995018	-
NM_002485.5(NBN):c.102G>A (p.Leu34=)	4683	NBN	Benign	1063045	RCV000162359\|RCV000242759\|RCV000387572\|RCV001711427\|RCV002225467\|RCV003315969;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|Human Phenotype Ontology:HP:00048	8	90995019	90995019	8:g.90995019C>T	ClinGen:CA186157	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.102G>T (p.Leu34=)	4683	NBN	Likely benign	-1	RCV002632970;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995019	90995019		-
NM_002485.5(NBN):c.101T>G (p.Leu34Arg)	4683	NBN	Uncertain significance	1012390181	RCV000549829\|RCV002298649\|RCV002367816;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90995020	90995020	NC_000008.10:g.90995020A>C	ClinGen:CA181281117	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.99T>A (p.Ile33=)	4683	NBN	Likely benign	1172365532	RCV000979920;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995022	90995022	8:g.90995022A>T	-
NM_002485.5(NBN):c.99T>G (p.Ile33Met)	4683	NBN	Uncertain significance	1172365532	RCV001035513\|RCV003160205\|RCV003467703;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90995022	90995022	8:g.90995022A>C	-
NM_002485.5(NBN):c.97A>G (p.Ile33Val)	4683	NBN	Uncertain significance	1563584435	RCV000709064\|RCV001188198;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90995024	90995024	8:g.90995024T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.93_96dup (p.Ile33fs)	4683	NBN	Pathogenic	2129925355	RCV001949625;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995024	90995025	90995024	-
NM_002485.5(NBN):c.97A>C (p.Ile33Leu)	4683	NBN	Uncertain significance	-1	RCV003040624;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995024	90995024	NC_000008.10:g.90995024T>G	-
NM_002485.5(NBN):c.93_94del (p.Ala32fs)	4683	NBN	Pathogenic/Likely pathogenic	864622253	RCV000206712\|RCV000221111\|RCV001569090\|RCV001824684\|RCV003468934;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; Human Phenotype Ontology:HP:0002665,MONDO:MONDO	8	90995027	90995028	8:g.90995027_90995028del	ClinGen:CA350713	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.92G>A (p.Cys31Tyr)	4683	NBN	Uncertain significance	1377520302	RCV000692664;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995029	90995029	8:g.90995029C>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.92G>C (p.Cys31Ser)	4683	NBN	Uncertain significance	1377520302	RCV000798750;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995029	90995029	8:g.90995029C>G	-
NM_002485.5(NBN):c.91T>C (p.Cys31Arg)	4683	NBN	Uncertain significance	876658553	RCV000218564\|RCV001363922;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995030	90995030	8:g.90995030A>G	ClinGen:CA10578815	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.88_89del (p.Asn30fs)	4683	NBN	Pathogenic/Likely pathogenic	587781718	RCV000129902\|RCV000411130;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995032	90995033	8:g.90995032_90995033del	ClinGen:CA165319	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.83_89del (p.Arg28fs)	4683	NBN	Pathogenic/Likely pathogenic	1554569106	RCV000574627\|RCV000794401;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995032	90995038	NC_000008.10:g.90995034_90995040del	ClinGen:CA658657796	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.89del (p.Asn30fs)	4683	NBN	Pathogenic/Likely pathogenic	587781718	RCV000988091;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995032	90995032	8:g.90995032_90995032del	-
NM_002485.5(NBN):c.86A>G (p.Lys29Arg)	4683	NBN	Uncertain significance	1554569112	RCV000556426\|RCV001178803;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90995035	90995035	NC_000008.10:g.90995035T>C	ClinGen:CA371663405	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.83G>A (p.Arg28Lys)	4683	NBN	Uncertain significance	876658581	RCV000218413\|RCV000694610;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995038	90995038	8:g.90995038C>T	ClinGen:CA10578816	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.82A>G (p.Arg28Gly)	4683	NBN	Uncertain significance	1563584545	RCV001315586;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995039	90995039	NC_000008.10:g.90995039T>C	-
NM_002485.5(NBN):c.81A>T (p.Gly27=)	4683	NBN	Uncertain significance	2129925626	RCV001940011;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995040	90995040	90995040	-
NM_002485.5(NBN):c.80G>T (p.Gly27Val)	4683	NBN	Uncertain significance	755171159	RCV000228051\|RCV000568019\|RCV001582771;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90995041	90995041	NC_000008.10:g.90995041C>A	ClinGen:CA4803058	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.80G>A (p.Gly27Glu)	4683	NBN	Uncertain significance	755171159	RCV001039445;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995041	90995041	8:g.90995041C>T	-
NM_002485.5(NBN):c.74TTG[1] (p.Val26del)	4683	NBN	Uncertain significance	2129925669	RCV002006134;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995042	90995044	90995041	-
NM_002485.5(NBN):c.78dup (p.Gly27fs)	4683	NBN	Pathogenic	-1	RCV002870770;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995042	90995043	NC_000008.10:g.90995044dup	-
NM_002485.5(NBN):c.77T>C (p.Val26Ala)	4683	NBN	Uncertain significance	781536675	RCV000820194\|RCV002408973;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90995044	90995044	8:g.90995044A>G	-
NM_002485.5(NBN):c.75dup (p.Val26fs)	4683	NBN	Pathogenic/Likely pathogenic	1199711768	RCV000573403\|RCV001207042\|RCV003329308;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90995045	90995046	8:g.90995045_90995046insA	ClinGen:CA658657797	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.76G>T (p.Val26Phe)	4683	NBN	Uncertain significance	752964949	RCV000807597\|RCV002397652\|RCV002487734;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88; MONDO:MONDO:000	8	90995045	90995045	8:g.90995045C>A	-
NM_002485.5(NBN):c.76G>A (p.Val26Ile)	4683	NBN	Uncertain significance	752964949	RCV001921957;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995045	90995045	90995045	-
NM_002485.5(NBN):c.75T>G (p.Val25=)	4683	NBN	Likely benign	1000181272	RCV000569120\|RCV000921985;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995046	90995046	NC_000008.10:g.90995046A>C	ClinGen:CA181281144	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.73G>A (p.Val25Ile)	4683	NBN	Conflicting interpretations of pathogenicity	587781748	RCV000129954\|RCV000212726\|RCV000232974\|RCV000656923;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90995048	90995048	8:g.90995048C>T	ClinGen:CA294139	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.73G>T (p.Val25Phe)	4683	NBN	Uncertain significance	587781748	RCV000693538\|RCV001026395;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90995048	90995048	8:g.90995048C>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.72C>T (p.Tyr24=)	4683	NBN	Likely benign	1001590969	RCV000604467\|RCV000636798\|RCV002385947;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90995049	90995049	8:g.90995049G>A	ClinGen:CA181281149	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.71A>C (p.Tyr24Ser)	4683	NBN	Uncertain significance	1812137176	RCV001350461;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995050	90995050	90995050	-
NM_002485.5(NBN):c.71A>G (p.Tyr24Cys)	4683	NBN	Uncertain significance	-1	RCV003020673;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995050	90995050	NC_000008.10:g.90995050T>C	-
NM_002485.5(NBN):c.69G>A (p.Glu23=)	4683	NBN	Likely benign	876659411	RCV000213528\|RCV001416347;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995052	90995052	8:g.90995052C>T	ClinGen:CA10578817	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.68del (p.Glu23fs)	4683	NBN	Pathogenic	-1	RCV002872059;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995053	90995053	NC_000008.10:g.90995053del	-
NM_002485.5(NBN):c.64G>A (p.Val22Ile)	4683	NBN	Uncertain significance	369910645	RCV000227804\|RCV000572001;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90995057	90995057	8:g.90995057C>T	ClinGen:CA4803061	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.64G>T (p.Val22Phe)	4683	NBN	Uncertain significance	369910645	RCV000540870;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995057	90995057	NC_000008.10:g.90995057C>A	ClinGen:CA371663582	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.63C>T (p.Gly21=)	4683	NBN	Likely benign	1064795458	RCV000478218\|RCV000636813\|RCV000775832;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90995058	90995058	8:g.90995058G>A	ClinGen:CA16618718	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.63C>A (p.Gly21=)	4683	NBN	Likely benign	-1	RCV002894692;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995058	90995058		-
NM_002485.5(NBN):c.60del (p.Gly21fs)	4683	NBN	Pathogenic/Likely pathogenic	758708229	RCV000657335\|RCV000815061\|RCV001024899\|RCV003472052;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90995061	90995061	NC_000008.10:g.90995061del	-	CN517202 not provided;
NM_002485.5(NBN):c.60T>C (p.Thr20=)	4683	NBN	Likely benign	-1	RCV002979226;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995061	90995061		-
NM_002485.5(NBN):c.59C>T (p.Thr20Ile)	4683	NBN	Uncertain significance	1563584711	RCV000685243;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995062	90995062	8:g.90995062G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.57G>A (p.Leu19=)	4683	NBN	Likely benign	1434720352	RCV000582065\|RCV001469776;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995064	90995064	NC_000008.10:g.90995064C>T	ClinGen:CA461831577	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.55_56del (p.Leu19fs)	4683	NBN	Pathogenic/Likely pathogenic	876659305	RCV000213118\|RCV001220381\|RCV001546090;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90995065	90995066	8:g.90995065_90995066del	ClinGen:CA10578818	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.56T>G (p.Leu19Trp)	4683	NBN	Uncertain significance	749263651	RCV000562197\|RCV001853722;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995065	90995065	8:g.90995065A>C	ClinGen:CA4803063	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.56del (p.Leu18_Leu19insTer)	4683	NBN	Pathogenic	876659305	RCV001204788;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995065	90995065	8:g.90995065_90995065del	-
NM_002485.5(NBN):c.55T>C (p.Leu19=)	4683	NBN	Likely benign	1586112097	RCV000980079\|RCV002346186;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90995066	90995066	8:g.90995066A>G	-
NM_002485.5(NBN):c.55T>G (p.Leu19Val)	4683	NBN	Uncertain significance	1586112097	RCV001295567\|RCV002350515;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90995066	90995066	90995066	-
NM_002485.5(NBN):c.52C>A (p.Leu18Ile)	4683	NBN	Uncertain significance	587781939	RCV000130303\|RCV000232902\|RCV001582603\|RCV003323410\|RCV003467138;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:18	8	90995069	90995069	8:g.90995069G>T	ClinGen:CA166136	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.47_51del (p.Tyr16fs)	4683	NBN	Likely pathogenic	-1	RCV002307965;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995070	90995074	90995069	-
NM_002485.5(NBN):c.48C>G (p.Tyr16Ter)	4683	NBN	Pathogenic/Likely pathogenic	2129926091	RCV001385181\|RCV003399206;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|	8	90995073	90995073	90995073	-
NM_002485.5(NBN):c.48C>T (p.Tyr16=)	4683	NBN	Likely benign	2129926091	RCV001484410\|RCV002342092;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90995073	90995073	90995073	-
NM_002485.5(NBN):c.47A>C (p.Tyr16Ser)	4683	NBN	Uncertain significance	864622726	RCV000204001;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995074	90995074	NC_000008.10:g.90995074T>G	ClinGen:CA348276	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.45A>G (p.Pro15=)	4683	NBN	Likely benign	577332041	RCV000231577\|RCV000569202\|RCV001722231;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	8	90995076	90995076	NC_000008.10:g.90995076T>C	ClinGen:CA4803064	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.45A>C (p.Pro15=)	4683	NBN	Likely benign	577332041	RCV001438018;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995076	90995076	NC_000008.10:g.90995076T>G	ClinGen:CA461831586	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.43C>T (p.Pro15Ser)	4683	NBN	Uncertain significance	1563584802	RCV002039218;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995078	90995078	90995078	-
NM_002485.5(NBN):c.42A>G (p.Glu14=)	4683	NBN	Likely benign	957561936	RCV001496846;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995079	90995079	8:g.90995079T>C	-
NM_002485.5(NBN):c.42A>C (p.Glu14Asp)	4683	NBN	Uncertain significance	957561936	RCV001369869\|RCV002329387;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90995079	90995079	90995079	-
NM_002485.5(NBN):c.40G>A (p.Glu14Lys)	4683	NBN	Uncertain significance	745439506	RCV000216199\|RCV001540678\|RCV001800579;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995081	90995081	8:g.90995081C>T	ClinGen:CA4803065	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.38_40del	4683	NBN	Uncertain significance	1350231265	RCV000985877\|RCV001190047\|RCV001217720\|RCV003313791;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C5669877	8	90995081	90995083		-
NM_002485.5(NBN):c.39A>C (p.Gly13=)	4683	NBN	Likely benign	876660470	RCV000218197\|RCV001396604;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995082	90995082	8:g.90995082T>G	ClinGen:CA10578819	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.39A>G (p.Gly13=)	4683	NBN	Likely benign	876660470	RCV002061067;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995082	90995082	NC_000008.10:g.90995082T>C	-
NM_002485.5(NBN):c.38-2A>G	4683	NBN	Likely pathogenic	771475965	RCV000775396\|RCV001067027\|RCV003465698;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90995085	90995085	NC_000008.10:g.90995085T>C	-
NM_002485.5(NBN):c.38-3C>G	4683	NBN	Uncertain significance	876661099	RCV000213999\|RCV000636758\|RCV001183809\|RCV003475046;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90995086	90995086	8:g.90995086G>C	ClinGen:CA10577372	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.38-3C>T	4683	NBN	Uncertain significance	876661099	RCV001856142;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995086	90995086	NC_000008.10:g.90995086G>A	-
NM_002485.5(NBN):c.38-4T>C	4683	NBN	Likely benign	-1	RCV002853286;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995087	90995087	NC_000008.10:g.90995087A>G	-
NM_002485.5(NBN):c.38-5C>T	4683	NBN	Conflicting interpretations of pathogenicity	775244752	RCV000221618\|RCV000439470\|RCV001496026;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995088	90995088	8:g.90995088G>A	ClinGen:CA4803067	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.38-6T>C	4683	NBN	Likely benign	2129926315	RCV001418667;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995089	90995089	90995089	-
NM_002485.5(NBN):c.38-7A>G	4683	NBN	Conflicting interpretations of pathogenicity	863224392	RCV000197294\|RCV001705149;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90995090	90995090	8:g.90995090T>C	ClinGen:CA337102	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.38-10_38-9dup	4683	NBN	Likely benign	2129926374	RCV001482969;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995090	90995091	90995090	-
NM_002485.5(NBN):c.38-7A>T	4683	NBN	Likely benign	-1	RCV003054069;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995090	90995090	NC_000008.10:g.90995090T>A	-
NM_002485.5(NBN):c.38-8T>A	4683	NBN	Likely benign	62531987	RCV001245016;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995091	90995091	8:g.90995091A>T	-
NM_002485.5(NBN):c.38-9T>G	4683	NBN	Likely benign	191514058	RCV000816904;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995092	90995092	8:g.90995092A>C	-
NM_002485.5(NBN):c.38-10T>A	4683	NBN	Conflicting interpretations of pathogenicity	556807466	RCV000127085\|RCV000200594\|RCV000733762\|RCV002225409;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	8	90995093	90995093	8:g.90995093A>T	ClinGen:CA292412	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.38-10T>C	4683	NBN	Likely benign	556807466	RCV000465585;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995093	90995093	NC_000008.10:g.90995093A>G	ClinGen:CA16612679	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.38-11dup	4683	NBN	Conflicting interpretations of pathogenicity	752004731	RCV000582547\|RCV000616770\|RCV002061882;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995093	90995094	NC_000008.10:g.90995102dup	ClinGen:CA4803069	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.38-11_38-10del	4683	NBN	Likely benign	1812142541	RCV001295167;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995093	90995094	90995092	-
NM_002485.5(NBN):c.38-11A>T	4683	NBN	Likely benign	770165601	RCV000608718\|RCV002063969;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995094	90995094	8:g.90995094T>A	ClinGen:CA4803071	CN169374 not specified;
NM_002485.5(NBN):c.38-11A>G	4683	NBN	Uncertain significance	770165601	RCV002559904;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995094	90995094	8:g.90995094T>C	-
NM_002485.5(NBN):c.38-11del	4683	NBN	Conflicting interpretations of pathogenicity	752004731	RCV002068164\|RCV003223702;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90995094	90995094	8:g.90995094_90995094del	-
NM_002485.5(NBN):c.38-14_38-11del	4683	NBN	Likely benign	752004731	RCV002082473;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995094	90995097	90995093	-
NM_002485.5(NBN):c.38-12A>G	4683	NBN	Conflicting interpretations of pathogenicity	773524364	RCV002257310\|RCV003101427;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995095	90995095	90995095	-
NM_002485.5(NBN):c.38-13A>T	4683	NBN	Likely benign	-1	RCV003087146;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995096	90995096	NC_000008.10:g.90995096T>A	-
NM_002485.5(NBN):c.38-14A>C	4683	NBN	Likely benign	-1	RCV003009812;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995097	90995097	NC_000008.10:g.90995097T>G	-
NM_002485.5(NBN):c.38-20dup	4683	NBN	Benign/Likely benign	757737980	RCV000482587\|RCV002063795;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995102	90995103	8:g.90995102_90995103insA	ClinGen:CA4803075	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.38-19A>T	4683	NBN	Benign/Likely benign	766849651	RCV000679465\|RCV002061883;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995102	90995102	8:g.90995102T>A	ClinGen:CA4803074	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.38-19A>G	4683	NBN	Likely benign	766849651	RCV002207300;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995102	90995102	90995102	-
NM_002485.5(NBN):c.38-20T>A	4683	NBN	Likely benign	774709748	RCV000425656\|RCV002062611;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995103	90995103	8:g.90995103A>T	ClinGen:CA4803076	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.38-20del	4683	NBN	Benign	757737980	RCV002131099;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90995103	90995103	90995102	-
NM_002485.5(NBN):c.37+20C>T	4683	NBN	Likely benign	2129937606	RCV002083787;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996733	90996733	90996733	-
NM_002485.5(NBN):c.37+19C>T	4683	NBN	Likely benign	1340137425	RCV002166351;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996734	90996734	90996734	-
NM_002485.5(NBN):c.37+19C>A	4683	NBN	Likely benign	-1	RCV002632243;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996734	90996734	NC_000008.10:g.90996734G>T	-
NM_002485.5(NBN):c.37+18G>T	4683	NBN	Likely benign	1812238225	RCV002067927;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996735	90996735	8:g.90996735C>A	-
NM_002485.5(NBN):c.37+17A>G	4683	NBN	Likely benign	749712282	RCV002178084;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996736	90996736	90996736	-
NM_002485.5(NBN):c.37+14G>T	4683	NBN	Likely benign	1275597923	RCV002190626;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996739	90996739	90996739	-
NM_002485.5(NBN):c.37+14G>A	4683	NBN	Likely benign	-1	RCV003071728;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996739	90996739	NC_000008.10:g.90996739C>T	-
NM_002485.5(NBN):c.37+12dup	4683	NBN	Likely benign	1563588481	RCV002535620;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996740	90996741	NC_000008.10:g.90996742dup	-
NM_002485.5(NBN):c.37+13G>C	4683	NBN	Likely benign	-1	RCV002608760;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996740	90996740	NC_000008.10:g.90996740C>G	-
NM_002485.5(NBN):c.37+12A>C	4683	NBN	Likely benign	771196279	RCV000423570\|RCV002256228\|RCV002524781;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996741	90996741	8:g.90996741T>G	ClinGen:CA4803092	CN169374 not specified;
NM_002485.5(NBN):c.37+12A>T	4683	NBN	Likely benign	771196279	RCV002179152;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996741	90996741	90996741	-
NM_002485.5(NBN):c.37+11A>G	4683	NBN	Benign/Likely benign	115032431	RCV000679464\|RCV001165001\|RCV001355304\|RCV001644684\|RCV002225674\|RCV002491152\|RCV003316754;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; H	8	90996742	90996742	8:g.90996742T>C	ClinGen:CA4803093	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.37+10G>C	4683	NBN	Conflicting interpretations of pathogenicity	369408590	RCV000198382\|RCV000432416\|RCV000580931\|RCV000859143\|RCV001356816;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142	8	90996743	90996743	8:g.90996743C>G	ClinGen:CA337883	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.37+10G>A	4683	NBN	Likely benign	369408590	RCV000636805;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996743	90996743	8:g.90996743C>T	ClinGen:CA658797125	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.35_37+10del	4683	NBN	Likely pathogenic	781710700	RCV001379215\|RCV002456595;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90996743	90996755	90996742	-
NC_000008.10:g.(?_90996743)_(90996789_?)del	4683	NBN	Pathogenic	-1	RCV001970066;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996743	90996789	-1	-
NM_002485.5(NBN):c.37+8C>T	4683	NBN	Conflicting interpretations of pathogenicity	1554569655	RCV000615842\|RCV000636710;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996745	90996745	NC_000008.10:g.90996745G>A	ClinGen:CA461831591	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.37+8C>A	4683	NBN	Likely benign	1554569655	RCV002076730;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996745	90996745	90996745	-
NM_002485.5(NBN):c.37+7G>A	4683	NBN	Likely benign	372850559	RCV000226027\|RCV000583671;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90996746	90996746	NC_000008.10:g.90996746C>T	ClinGen:CA4803095	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.37+6G>T	4683	NBN	Uncertain significance	540868733	RCV000195899;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996747	90996747	8:g.90996747C>A	ClinGen:CA336027	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.37+6G>C	4683	NBN	Conflicting interpretations of pathogenicity	540868733	RCV000231974\|RCV000590289;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90996747	90996747	NC_000008.10:g.90996747C>G	ClinGen:CA4803097	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.37+6G>A	4683	NBN	Conflicting interpretations of pathogenicity	540868733	RCV000457854\|RCV001721502\|RCV001821292;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN169374	8	90996747	90996747	NC_000008.10:g.90996747C>T	ClinGen:CA4803096	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.37+5G>A	4683	NBN	Benign	116735828	RCV000129181\|RCV000389618\|RCV000759176\|RCV000988092\|RCV001354386\|RCV002225425\|RCV003315872;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	8	90996748	90996748	8:g.90996748C>T	ClinGen:CA163914	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.37+5G>T	4683	NBN	Uncertain significance	116735828	RCV001348020;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996748	90996748	90996748	-
NM_002485.5(NBN):c.37+4A>C	4683	NBN	Likely benign	1586115968	RCV001020924\|RCV002069005;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996749	90996749	8:g.90996749T>G	-
NM_002485.5(NBN):c.37+2dup	4683	NBN	Conflicting interpretations of pathogenicity	876658183	RCV000217464\|RCV000795722\|RCV003462408;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90996750	90996751	NC_000008.10:g.90996751dup	ClinGen:CA10578820	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.37+3A>G	4683	NBN	Conflicting interpretations of pathogenicity	764356392	RCV000432255\|RCV000473199\|RCV000582301;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90996750	90996750	8:g.90996750T>C	ClinGen:CA4803098	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.37+1G>A	4683	NBN	Pathogenic/Likely pathogenic	574673404	RCV000165888\|RCV000470841\|RCV000708614\|RCV001270989\|RCV001310161\|RCV003468760;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MedGen:CN221562\|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370, Orphanet:145\|Human Phenotype Ontology:HP:000191	8	90996752	90996752	8:g.90996752C>T	ClinGen:CA194448	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.37G>A (p.Gly13Arg)	4683	NBN	Uncertain significance	757112911	RCV000526745\|RCV001184070;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90996753	90996753	NC_000008.10:g.90996753C>T	ClinGen:CA4803099	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.36A>C (p.Gly12=)	4683	NBN	Conflicting interpretations of pathogenicity	1554569658	RCV000566109\|RCV001235497;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996754	90996754	8:g.90996754T>G	ClinGen:CA461831594	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.36A>T (p.Gly12=)	4683	NBN	Conflicting interpretations of pathogenicity	1554569658	RCV000707509\|RCV002343576;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90996754	90996754	NC_000008.10:g.90996754T>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.36A>G (p.Gly12=)	4683	NBN	Uncertain significance	1554569658	RCV001038463;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996754	90996754	8:g.90996754T>C	-
NM_002485.5(NBN):c.35G>C (p.Gly12Ala)	4683	NBN	Uncertain significance	730881860	RCV000160799\|RCV001208076;	N	MedGen:CN517202\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996755	90996755	NC_000008.10:g.90996755C>G	ClinGen:CA299645	CN517202 not provided;
NM_002485.5(NBN):c.35G>A (p.Gly12Glu)	4683	NBN	Uncertain significance	730881860	RCV000166444\|RCV001220952;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996755	90996755	8:g.90996755C>T	ClinGen:CA195890	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.34G>A (p.Gly12Arg)	4683	NBN	Conflicting interpretations of pathogenicity	878854511	RCV000228075\|RCV000762529\|RCV000772147\|RCV003475060;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90996756	90996756	NC_000008.10:g.90996756C>T	ClinGen:CA10582607	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.33A>C (p.Ala11=)	4683	NBN	Likely benign	1554569661	RCV000583394\|RCV001477650;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996757	90996757	NC_000008.10:g.90996757T>G	ClinGen:CA461831597	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.33A>G (p.Ala11=)	4683	NBN	Likely benign	1554569661	RCV001418668;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996757	90996757	90996757	-
NM_002485.5(NBN):c.31G>A (p.Ala11Thr)	4683	NBN	Uncertain significance	-1	RCV003015552;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996759	90996759	NC_000008.10:g.90996759C>T	-
NM_002485.5(NBN):c.30G>C (p.Pro10=)	4683	NBN	Likely benign	750391983	RCV000549282;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996760	90996760	NC_000008.10:g.90996760C>G	ClinGen:CA461831598	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.30G>T (p.Pro10=)	4683	NBN	Likely benign	750391983	RCV002068363;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996760	90996760	8:g.90996760C>A	-
NM_002485.5(NBN):c.30G>A (p.Pro10=)	4683	NBN	Uncertain significance	750391983	RCV002047195;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996760	90996760	90996760	-
NM_002485.5(NBN):c.28C>A (p.Pro10Thr)	4683	NBN	Uncertain significance	758228844	RCV000795693;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996762	90996762	NC_000008.10:g.90996762G>T	-
NM_002485.5(NBN):c.28C>T (p.Pro10Ser)	4683	NBN	Uncertain significance	758228844	RCV002568100;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996762	90996762	90996762	-
NM_002485.5(NBN):c.28C>G (p.Pro10Ala)	4683	NBN	Uncertain significance	758228844	RCV001971163;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996762	90996762	90996762	-
NM_002485.5(NBN):c.27C>T (p.Gly9=)	4683	NBN	Conflicting interpretations of pathogenicity	1554569662	RCV000562307\|RCV000611690\|RCV000704342;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996763	90996763	NC_000008.10:g.90996763G>A	ClinGen:CA461831602	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.26del (p.Gly9fs)	4683	NBN	Pathogenic	1060503485	RCV000458518;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996764	90996764	NC_000008.10:g.90996766del	ClinGen:CA16612389	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.26G>T (p.Gly9Val)	4683	NBN	Uncertain significance	1554569664	RCV000535302;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996764	90996764	NC_000008.10:g.90996764C>A	ClinGen:CA371664155	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.25G>A (p.Gly9Ser)	4683	NBN	Uncertain significance	2129938127	RCV001899681\|RCV003164209;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90996765	90996765	90996765	-
NM_002485.5(NBN):c.24G>A (p.Ala8=)	4683	NBN	Conflicting interpretations of pathogenicity	779543740	RCV000570467\|RCV001064416\|RCV001704270;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90996766	90996766	8:g.90996766C>T	ClinGen:CA4803103	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.24G>T (p.Ala8=)	4683	NBN	Likely benign	779543740	RCV002083143;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996766	90996766	90996766	-
NM_002485.5(NBN):c.23C>T (p.Ala8Val)	4683	NBN	Uncertain significance	1060503459	RCV000457469\|RCV001805079;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90996767	90996767	NC_000008.10:g.90996767G>A	ClinGen:CA16612557	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.23C>G (p.Ala8Gly)	4683	NBN	Uncertain significance	1060503459	RCV001578686;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996767	90996767	90996767	-
NM_002485.5(NBN):c.14_23del (p.Leu5fs)	4683	NBN	Pathogenic/Likely pathogenic	2129938178	RCV002037656\|RCV003475213;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90996767	90996776	90996766	-
NM_002485.5(NBN):c.21C>G (p.Ala7=)	4683	NBN	Likely benign	370050587	RCV000444539\|RCV000561743\|RCV000636819;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996769	90996769	8:g.90996769G>C	ClinGen:CA4803105	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.21C>T (p.Ala7=)	4683	NBN	Likely benign	370050587	RCV000636820\|RCV001698275\|RCV002429425;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90996769	90996769	8:g.90996769G>A	ClinGen:CA4803104	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.21C>A (p.Ala7=)	4683	NBN	Uncertain significance	370050587	RCV001301826;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996769	90996769	90996769	-
NM_002485.5(NBN):c.20C>T (p.Ala7Val)	4683	NBN	Conflicting interpretations of pathogenicity	781057669	RCV001236445\|RCV002418811;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90996770	90996770	8:g.90996770G>A	-
NM_002485.5(NBN):c.19G>A (p.Ala7Thr)	4683	NBN	Uncertain significance	587780779	RCV000123211\|RCV001014001;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90996771	90996771	8:g.90996771C>T	ClinGen:CA332820	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.19G>C (p.Ala7Pro)	4683	NBN	Uncertain significance	587780779	RCV001875577;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996771	90996771	90996771	-
NM_002485.5(NBN):c.18C>T (p.Pro6=)	4683	NBN	Likely benign	786201394	RCV000163536\|RCV001501365;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996772	90996772	8:g.90996772G>A	ClinGen:CA188557	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.18C>G (p.Pro6=)	4683	NBN	Likely benign	786201394	RCV000565805\|RCV000925589;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996772	90996772	8:g.90996772G>C	ClinGen:CA461831606	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.17C>T (p.Pro6Leu)	4683	NBN	Uncertain significance	876658432	RCV000222282\|RCV001233526;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996773	90996773	8:g.90996773G>A	ClinGen:CA10578821	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.16C>T (p.Pro6Ser)	4683	NBN	Uncertain significance	730881859	RCV000160798\|RCV000197183\|RCV000212724\|RCV003467264;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90996774	90996774	NC_000008.10:g.90996774G>A	ClinGen:CA299642	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.16C>A (p.Pro6Thr)	4683	NBN	Uncertain significance	730881859	RCV001052228;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996774	90996774	8:g.90996774G>T	-
NM_002485.5(NBN):c.16C>G (p.Pro6Ala)	4683	NBN	Uncertain significance	730881859	RCV001208049\|RCV002402609;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90996774	90996774	8:g.90996774G>C	-
NM_002485.5(NBN):c.15G>C (p.Leu5=)	4683	NBN	Likely benign	1363180098	RCV000564097\|RCV000978904\|RCV001438200;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996775	90996775	8:g.90996775C>G	ClinGen:CA461831609	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.15G>A (p.Leu5=)	4683	NBN	Likely benign	1363180098	RCV002188404\|RCV002400383;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90996775	90996775	90996775	-
NM_002485.5(NBN):c.14T>A (p.Leu5Gln)	4683	NBN	Uncertain significance	1586116142	RCV000793304;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996776	90996776	8:g.90996776A>T	-
NM_002485.5(NBN):c.14T>C (p.Leu5Pro)	4683	NBN	Uncertain significance	1586116142	RCV002033629;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996776	90996776	90996776	-
NM_002485.5(NBN):c.13C>G (p.Leu5Val)	4683	NBN	Uncertain significance	1563588747	RCV000776598\|RCV001337830;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996777	90996777	NC_000008.10:g.90996777G>C	-
NM_002485.5(NBN):c.12G>A (p.Leu4=)	4683	NBN	Likely benign	1812243844	RCV001489020\|RCV002384801;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90996778	90996778	90996778	-
NM_002485.5(NBN):c.11T>C (p.Leu4Pro)	4683	NBN	Uncertain significance	748090667	RCV000463112\|RCV000569693\|RCV001840577\|RCV003476115;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90996779	90996779	NC_000008.10:g.90996779A>G	ClinGen:CA16612508	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.11del (p.Leu4fs)	4683	NBN	Pathogenic/Likely pathogenic	1064793210	RCV000480086\|RCV000529669\|RCV000575658\|RCV003470527;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90996779	90996779	NC_000008.10:g.90996779del	ClinGen:CA16618719	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.11T>G (p.Leu4Arg)	4683	NBN	Uncertain significance	748090667	RCV000546827\|RCV000565981\|RCV000764792;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Human Phenotype Ontology:HP:0006721,MONDO:MONDO:0004967	8	90996779	90996779	NC_000008.10:g.90996779A>C	ClinGen:CA181286161	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.10C>T (p.Leu4=)	4683	NBN	Likely benign	1426394881	RCV000582478\|RCV001435689;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996780	90996780	8:g.90996780G>A	ClinGen:CA461831615	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.10C>G (p.Leu4Val)	4683	NBN	Uncertain significance	1426394881	RCV001214168\|RCV003163634;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90996780	90996780	8:g.90996780G>C	-
NM_002485.5(NBN):c.9A>C (p.Lys3Asn)	4683	NBN	Uncertain significance	-1	RCV002297662;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996781	90996781	90996781	-
NM_002485.5(NBN):c.9A>G (p.Lys3=)	4683	NBN	Likely benign	-1	RCV003042005;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996781	90996781		-
NM_002485.5(NBN):c.7A>T (p.Lys3Ter)	4683	NBN	Pathogenic/Likely pathogenic	779098734	RCV000581960\|RCV000707330;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996783	90996783	8:g.90996783T>A	ClinGen:CA4803108	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.6G>A (p.Trp2Ter)	4683	NBN	Pathogenic/Likely pathogenic	876661130	RCV000220864\|RCV001854740;	N	MedGen:CN517202\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996784	90996784	NC_000008.10:g.90996784C>T	ClinGen:CA10577371	CN517202 not provided;
NM_002485.5(NBN):c.5G>A (p.Trp2Ter)	4683	NBN	Pathogenic	1812244679	RCV001270990\|RCV002537743;	N	MedGen:CN221562\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996785	90996785	8:g.90996785C>T	-
NM_002485.5(NBN):c.4del (p.Trp2fs)	4683	NBN	Pathogenic/Likely pathogenic	1275657359	RCV001389546\|RCV002341832\|RCV003469758;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001915,MONDO:MONDO:0015909,MedGen:C0002874,OMIM:609135, Orphanet:182040, Orphanet:88	8	90996786	90996786	90996785	-
NM_002485.5(NBN):c.3G>A (p.Met1Ile)	4683	NBN	Uncertain significance	1554569682	RCV000525671;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996787	90996787	NC_000008.10:g.90996787C>T	ClinGen:CA371664229	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.2T>C (p.Met1Thr)	4683	NBN	Conflicting interpretations of pathogenicity	746422391	RCV000484157\|RCV000695139\|RCV001184071;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	8	90996788	90996788	8:g.90996788A>G	ClinGen:CA4803109	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.-2C>A	4683	NBN	Conflicting interpretations of pathogenicity	202104448	RCV000130810\|RCV000422154\|RCV001284195\|RCV001800437;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996791	90996791	8:g.90996791G>T	ClinGen:CA167158	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.-2C>T	4683	NBN	Likely benign	202104448	RCV000130921\|RCV001355337\|RCV001719901\|RCV002492508;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647; Human Phenotype Ontology:HP:0004803,Human Phenotype Ontology:HP:0005555,Hum	8	90996791	90996791	8:g.90996791G>A	ClinGen:CA167381	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.-3C>T	4683	NBN	Uncertain significance	1276313619	RCV001021625\|RCV001800933;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996792	90996792	8:g.90996792G>A	-
NM_002485.5(NBN):c.-7C>A	4683	NBN	Uncertain significance	1210776869	RCV001284318\|RCV001800877\|RCV002282365;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:CN169374	8	90996796	90996796	NC_000008.10:g.90996796G>T	-
NM_002485.5(NBN):c.-10A>T	4683	NBN	Conflicting interpretations of pathogenicity	759094270	RCV000586130\|RCV001800804\|RCV003420019;	N	MedGen:C3661900\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|	8	90996799	90996799	8:g.90996799T>A	ClinGen:CA4803113	C0027672 Hereditary cancer-predisposing syndrome;
NM_002485.5(NBN):c.-26G>A	4683	NBN	Conflicting interpretations of pathogenicity	201392451	RCV000160779\|RCV000352846;	N	MedGen:CN169374\|MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996815	90996815	NC_000008.10:g.90996815C>T	ClinGen:CA299592	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency;
NM_002485.5(NBN):c.-46C>A	4683	NBN	Uncertain significance	751549166	RCV001165002;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647	8	90996835	90996835	8:g.90996835G>T	-
NC_000008.11:g.89984913_89984916del	4683	NBN	Benign	36226237	RCV001510924\|RCV001685373;	N	MONDO:MONDO:0009623,MedGen:C0398791,OMIM:251260, Orphanet:647\|MedGen:C3661900	8	90997138	90997141		-

MSeqDR Portal

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