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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: DNA Repair-Deficiency Disorders (D049914)
..Starting node ..Nijmegen Breakage Syndrome (D049932)
Child Nodes:
........Microcephaly microcornea syndrome Seemanova type (C537539)
Sister Nodes:
..Ataxia Telangiectasia (D001260) 6
..Bloom Syndrome (D001816)
..Cockayne Syndrome (D003057) 6
..Colorectal Neoplasms, Hereditary Nonpolyposis (D003123) 10
..Fanconi Anemia (D005199) 13
..Li-Fraumeni Syndrome (D016864) 4
..N syndrome (C536108)
..NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT (OMIM:609981)
..Nijmegen Breakage Syndrome (D049932) 1
..Nijmegen Breakage Syndrome-Like Disorder (C567767)
..Rothmund-Thomson Syndrome (D011038) 5
..Severe Combined Immunodeficiency (D016511) 22
..Werner Syndrome (D014898) 1
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8078

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:

OMIM:251260

ParentIDs:

MESH:D049914

TreeNumbers:

C18.452.284.600

Synonyms:

Slim Mappings:

Metabolic disease

Reference:

MedGen: D049932
MeSH: D049932
OMIM: 251260;

Genes: NBN;

Phenotypes

1	HP:0001890	Autoimmune hemolytic anemia
2	HP:0000007	Autosomal recessive inheritance
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:0002014	Diarrhea
12	HP:0002961	Dysgammaglobulinemia
13	HP:0009733	Glioma
14	HP:0000126	Hydronephrosis
15	HP:0000752	Hyperactivity
16	HP:0001249	Intellectual disability
17	HP:0001511	Intrauterine growth retardation
18	HP:0003189	Long nose
19	HP:0002665	Lymphoma
20	HP:0000400	Macrotia
21	HP:0010620	Malar prominence
22	HP:0000265	Mastoiditis
23	HP:0002885	Medulloblastoma
24	HP:0000252	Microcephaly
25	HP:0000347	Micrognathia
26	HP:0002180	Neurodegeneration
27	HP:0000388	Otitis media
28	HP:0008209	Premature ovarian insufficiency
29	HP:0005602	Progressive vitiligo
30	HP:0002837	Recurrent bronchitis
31	HP:0004798	Recurrent infection of the gastrointestinal tract
32	HP:0006532	Recurrent pneumonia
33	HP:0000010	Recurrent urinary tract infections
34	HP:0002859	Rhabdomyosarcoma
35	HP:0004322	Short stature
36	HP:0000246	Sinusitis
37	HP:0000340	Sloping forehead
38	HP:0005403	T lymphocytopenia
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_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_002485.4(NBN):c.2185-?_*(1_?)del	4683	NBN	Likely pathogenic	-1	RCV000195535;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90947809	90949303	NM_002485.4:c.2185-?_*(1_?)del			-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.2246A>T (p.Tyr749Phe)	4683	NBN	Uncertain significance	864622446	RCV000205239; RCV000219183;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C3280492,OMIM:614327,ORPHA:289539	8	90947829	90947829	NM_002485.4:c.2246A>T	NP_002476.2:p.Tyr749Phe		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; C3280492 614327 Tumor predisposition syndrome
NM_002485.4(NBN):c.2220T>C (p.Ala740=)	4683	NBN	Benign;Likely benign	147494981	RCV000123214; RCV000212759; RCV000160776;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90949268	90949268	NM_002485.4:c.2220T>C	NP_002476.2:p.Ala740=	NC_000008.10:g.90949268A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.2215C>G (p.Leu739Val)	4683	NBN	Uncertain significance	370058152	RCV000168129; RCV000212758; RCV000160797;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90949273	90949273	NM_002485.4:c.2215C>G	NP_002476.2:p.Leu739Val	NC_000008.10:g.90949273G>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.2202A>G (p.Ala734=)	4683	NBN	Benign;Likely benign	200452212	RCV000123213; RCV000212757; RCV000160775;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90949286	90949286	NM_002485.4:c.2202A>G	NP_002476.2:p.Ala734=	NC_000008.10:g.90949286T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.2196A>G (p.Gln732=)	4683	NBN	Benign;Likely benign	587780780	RCV000123212; RCV000212756; RCV000160774;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90949292	90949292	NM_002485.4:c.2196A>G	NP_002476.2:p.Gln732=	NC_000008.10:g.90949292T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.2184+8G>C	4683	NBN	Likely benign	730881842	RCV000196142; RCV000160773;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90955473	90955473	NM_002485.4:c.2184+8G>C		NC_000008.10:g.90955473C>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.2184+7A>G	4683	NBN	Likely benign	200812782	RCV000204237;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90955474	90955474	NM_002485.4:c.2184+7A>G		NC_000008.10:g.90955474T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.2165G>A (p.Trp722Ter)	4683	NBN	Pathogenic	786204181	RCV000168229;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90955500	90955500	NM_002485.4:c.2165G>A	NP_002476.2:p.Trp722Ter	NC_000008.10:g.90955500C>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.2155_2157dupCTA (p.Leu719_Glu720insLeu)	4683	NBN	Uncertain significance	864622241	RCV000206749;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90955508	90955510	NM_002485.4:c.2155_2157dupCTA	NP_002476.2:p.Leu719_Glu720insLeu	NC_000008.10:g.90955508_90955510dupTAG	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.2146A>G (p.Asn716Asp)	4683	NBN	Benign;Likely benign	72563785	RCV000168432; RCV000121615; RCV000128986;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90955519	90955519	NM_002485.4:c.2146A>G	NP_002476.2:p.Asn716Asp	NC_000008.10:g.90955519T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter)	4683	NBN	Pathogenic	730881864	RCV000204431; RCV000215628; RCV000160804;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	8	90955525	90955525	NM_002485.4:c.2140C>T	NP_002476.2:p.Arg714Ter	NC_000008.10:g.90955525G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_002485.4(NBN):c.2134_2136delCAT (p.His712del)	4683	NBN	Uncertain significance	786204096	RCV000168012;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90955529	90955531	NM_002485.4:c.2134_2136delCAT	NP_002476.2:p.His712del	NC_000008.10:g.90955529_90955531delATG	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.2071-4A>G	4683	NBN	Uncertain significance	746994234	RCV000204105;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90955598	90955598	NM_002485.4:c.2071-4A>G		NC_000008.10:g.90955598T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.2068A>C (p.Lys690Gln)	4683	NBN	Uncertain significance	587780092	RCV000206186; RCV000115787;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90958370	90958370	NM_002485.4:c.2068A>C	NP_002476.2:p.Lys690Gln	NC_000008.10:g.90958370T>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.2038G>A (p.Gly680Ser)	4683	NBN	Uncertain significance	200564603	RCV000204839; RCV000220088;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C3280492,OMIM:614327,ORPHA:289539	8	90958400	90958400	NM_002485.4:c.2038G>A	NP_002476.2:p.Gly680Ser		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; C3280492 614327 Tumor predisposition syndrome
NM_002485.4(NBN):c.2037T>C (p.Tyr679=)	4683	NBN	Likely benign	864622555	RCV000203858;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90958401	90958401	NM_002485.4:c.2037T>C	NP_002476.2:p.Tyr679=	NC_000008.10:g.90958401A>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.2029G>A (p.Asp677Asn)	4683	NBN	Uncertain significance	730881856	RCV000205938; RCV000160794;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90958409	90958409	NM_002485.4:c.2029G>A	NP_002476.2:p.Asp677Asn	NC_000008.10:g.90958409C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1979G>C (p.Arg660Thr)	4683	NBN	Uncertain significance	201781110	RCV000195616;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90958459	90958459	NM_002485.4:c.1979G>C	NP_002476.2:p.Arg660Thr	NC_000008.10:g.90958459C>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1925A>G (p.Lys642Arg)	4683	NBN	Uncertain significance	587781547	RCV000204812; RCV000206550; RCV000129561;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0376358,OMIM:176807,SNOMED CT:399068003; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90958513	90958513	NM_002485.4:c.1925A>G	NP_002476.2:p.Lys642Arg	NC_000008.10:g.90958513T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0376358 176807 Malignant tumor of prostate; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1919A>G (p.Asn640Ser)	4683	NBN	Uncertain significance	748073091	RCV000204732; RCV000167135;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90958519	90958519	NM_002485.4:c.1919A>G	NP_002476.2:p.Asn640Ser	NC_000008.10:g.90958519T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1914+9C>T	4683	NBN	Benign	13312938	RCV000119107; RCV000131005;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90960043	90960043	NM_002485.4:c.1914+9C>T		NC_000008.10:g.90960043G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1890A>C (p.Ser630=)	4683	NBN	Likely benign	587780778	RCV000123210; RCV000163378;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90960076	90960076	NM_002485.4:c.1890A>C	NP_002476.2:p.Ser630=	NC_000008.10:g.90960076T>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1888T>C (p.Ser630Pro)	4683	NBN	Uncertain significance	377132067	RCV000206789; RCV000194251;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90960078	90960078	NM_002485.4:c.1888T>C	NP_002476.2:p.Ser630Pro	NC_000008.10:g.90960078A>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys)	4683	NBN	Benign	115321485	RCV000119113; RCV000212752; RCV000131006;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90960084	90960084	NM_002485.4:c.1882G>A	NP_002476.2:p.Glu628Lys	NC_000008.10:g.90960084C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1880A>T (p.Lys627Met)	4683	NBN	Uncertain significance	762174459	RCV000199176;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90960086	90960086	NM_002485.4:c.1880A>T	NP_002476.2:p.Lys627Met	NC_000008.10:g.90960086T>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1871G>A (p.Arg624His)	4683	NBN	Uncertain significance	587782297	RCV000197335; RCV000212751; RCV000131180;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90960095	90960095	NM_002485.4:c.1871G>A	NP_002476.2:p.Arg624His	NC_000008.10:g.90960095C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1866G>C (p.Lys622Asn)	4683	NBN	Uncertain significance	587782221	RCV000167920; RCV000130912;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90960100	90960100	NM_002485.4:c.1866G>C	NP_002476.2:p.Lys622Asn	NC_000008.10:g.90960100C>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1845+3A>G	4683	NBN	Uncertain significance	587780777	RCV000123209;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90965469	90965469	NM_002485.4:c.1845+3A>G		NC_000008.10:g.90965469T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1825C>A (p.Pro609Thr)	4683	NBN	Uncertain significance	372012641	RCV000206603;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90965492	90965492	NM_002485.4:c.1825C>A	NP_002476.2:p.Pro609Thr	NC_000008.10:g.90965492G>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1809C>A (p.Phe603Leu)	4683	NBN	Benign;Likely benign	192236678	RCV000168426; RCV000164543;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90965508	90965508	NM_002485.4:c.1809C>A	NP_002476.2:p.Phe603Leu	NC_000008.10:g.90965508G>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1789A>G (p.Ile597Val)	4683	NBN	Uncertain significance	864622167	RCV000205939;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90965528	90965528	NM_002485.4:c.1789A>G	NP_002476.2:p.Ile597Val	NC_000008.10:g.90965528T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1777C>G (p.Pro593Ala)	4683	NBN	Uncertain significance	146989944	RCV000195457; RCV000212750; RCV000115785;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90965540	90965540	NM_002485.4:c.1777C>G	NP_002476.2:p.Pro593Ala	NC_000008.10:g.90965540G>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1747C>T (p.Gln583Ter)	4683	NBN	Pathogenic	864622143	RCV000206506; RCV000217030;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C3280492,OMIM:614327,ORPHA:289539	8	90965570	90965570	NM_002485.4:c.1747C>T	NP_002476.2:p.Gln583Ter		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; C3280492 614327 Tumor predisposition syndrome
NM_002485.4(NBN):c.1729G>T (p.Asp577Tyr)	4683	NBN	Uncertain significance	587781881	RCV000199051; RCV000130210;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90965588	90965588	NM_002485.4:c.1729G>T	NP_002476.2:p.Asp577Tyr	NC_000008.10:g.90965588C>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile)	4683	NBN	Likely benign;Uncertain significance	142334798	RCV000123208; RCV000121614; RCV000115784;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90965597	90965597	NM_002485.4:c.1720T>A	NP_002476.2:p.Leu574Ile	NC_000008.10:g.90965597A>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1690G>A (p.Glu564Lys)	4683	NBN	Benign;Likely benign	72550742	RCV000205604; RCV000212749; RCV000129092;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90965627	90965627	NM_002485.4:c.1690G>A	NP_002476.2:p.Glu564Lys	NC_000008.10:g.90965627C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1619A>G (p.His540Arg)	4683	NBN	Uncertain significance	730881852	RCV000204344; RCV000160790;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90965698	90965698	NM_002485.4:c.1619A>G	NP_002476.2:p.His540Arg	NC_000008.10:g.90965698T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1559A>G (p.Asn520Ser)	4683	NBN	Uncertain significance	750981708	RCV000200286;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90965758	90965758	NM_002485.4:c.1559A>G	NP_002476.2:p.Asn520Ser	NC_000008.10:g.90965758T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1533T>G (p.Asn511Lys)	4683	NBN	Uncertain significance	587780776	RCV000123207;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90965784	90965784	NM_002485.4:c.1533T>G	NP_002476.2:p.Asn511Lys	NC_000008.10:g.90965784A>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1489A>G (p.Thr497Ala)	4683	NBN	Benign	3026268	RCV000123206; RCV000121612; RCV000128985;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90965828	90965828	NM_002485.4:c.1489A>G	NP_002476.2:p.Thr497Ala	NC_000008.10:g.90965828T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1484C>T (p.Pro495Leu)	4683	NBN	Uncertain significance	863224714	RCV000198393; RCV000223448;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90965833	90965833	NM_002485.4:c.1484C>T	NP_002476.2:p.Pro495Leu	NC_000008.10:g.90965833G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1465C>G (p.Leu489Val)	4683	NBN	Uncertain significance	143948240	RCV000197233; RCV000164141;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90965852	90965852	NM_002485.4:c.1465C>G	NP_002476.2:p.Leu489Val	NC_000008.10:g.90965852G>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1419_1431dupAGAAATGTCTTCA (p.Cys478Argfs)	4683	NBN	Pathogenic	864622333	RCV000205695;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90965886	90965898	NM_002485.4:c.1419_1431dupAGAAATGTCTTCA	NP_002476.2:p.Cys478Argfs	NC_000008.10:g.90965886_90965898dupTGAAGACATTTCT	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1419A>G (p.Gln473=)	4683	NBN	Likely benign	587780535	RCV000119136; RCV000163038;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90965898	90965898	NM_002485.4:c.1419A>G	NP_002476.2:p.Gln473=	NC_000008.10:g.90965898T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1405G>T (p.Asp469Tyr)	4683	NBN	Uncertain significance	148205441	RCV000167890; RCV000121613; RCV000129788;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90965912	90965912	NM_002485.4:c.1405G>T	NP_002476.2:p.Asp469Tyr	NC_000008.10:g.90965912C>A,NC_000008.10:g.90965912C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1404G>T (p.Arg468Ser)	4683	NBN	Uncertain significance	730881851	RCV000206062; RCV000160789;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90965913	90965913	NM_002485.4:c.1404G>T	NP_002476.2:p.Arg468Ser	NC_000008.10:g.90965913C>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1398-10dupT	4683	NBN	Benign	587780555	RCV000119229; RCV000160772;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90965929	90965929	NM_002485.4:c.1398-10dupT		NC_000008.10:g.90965929dupA	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1373A>G (p.Tyr458Cys)	4683	NBN	Uncertain significance	544909538	RCV000119215; RCV000215482;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C3280492,OMIM:614327,ORPHA:289539	8	90967535	90967535	NM_002485.4:c.1373A>G	NP_002476.2:p.Tyr458Cys	NC_000008.10:g.90967535T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; C3280492 614327 Tumor predisposition syndrome
NM_002485.4(NBN):c.1362C>T (p.Ser454=)	4683	NBN	Likely benign	587780775	RCV000123205; RCV000221286;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C3280492,OMIM:614327,ORPHA:289539	8	90967546	90967546	NM_002485.4:c.1362C>T	NP_002476.2:p.Ser454=	NC_000008.10:g.90967546G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; C3280492 614327 Tumor predisposition syndrome
NM_002485.4(NBN):c.1361C>A (p.Ser454Tyr)	4683	NBN	Uncertain significance	587780774	RCV000123204;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90967547	90967547	NM_002485.4:c.1361C>A	NP_002476.2:p.Ser454Tyr	NC_000008.10:g.90967547G>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1354A>C (p.Thr452Pro)	4683	NBN	Likely benign;Uncertain significance	141137543	RCV000199946; RCV000212747; RCV000131458;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90967554	90967554	NM_002485.4:c.1354A>C	NP_002476.2:p.Thr452Pro	NC_000008.10:g.90967554T>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1343A>T (p.Gln448Leu)	4683	NBN	Uncertain significance	146403088	RCV000200818; RCV000173759; RCV000212746; RCV000160787;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374; MedGen:CN221809	8	90967565	90967565	NM_002485.4:c.1343A>T	NP_002476.2:p.Gln448Leu	NC_000008.10:g.90967565T>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided; CN169374 not specified
NM_002485.4(NBN):c.1317A>G (p.Ile439Met)	4683	NBN	Likely benign;Uncertain significance	28538230	RCV000198422; RCV000173760; RCV000115781;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90967591	90967591	NM_002485.4:c.1317A>G	NP_002476.2:p.Ile439Met	NC_000008.10:g.90967591T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1313G>T (p.Ser438Ile)	4683	NBN	Uncertain significance	786203131	RCV000204846; RCV000166304;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90967595	90967595	NM_002485.4:c.1313G>T	NP_002476.2:p.Ser438Ile	NC_000008.10:g.90967595C>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1306T>C (p.Leu436=)	4683	NBN	Likely benign	375885975	RCV000204069;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90967602	90967602	NM_002485.4:c.1306T>C	NP_002476.2:p.Leu436=	NC_000008.10:g.90967602A>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser)	4683	NBN	Uncertain significance	104895032	RCV000123203; RCV000114875; RCV000212745; RCV000115780;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374; MedGen:CN221809	8	90967646	90967646	NM_002485.4:c.1262T>C	NP_002476.2:p.Leu421Ser	NC_000008.10:g.90967646A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided; CN169374 not specified
NM_002485.4(NBN):c.1247T>C (p.Met416Thr)	4683	NBN	Uncertain significance	863224713	RCV000198264;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90967661	90967661	NM_002485.4:c.1247T>C	NP_002476.2:p.Met416Thr	NC_000008.10:g.90967661A>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1242T>C (p.Asn414=)	4683	NBN	Likely benign	864622135	RCV000204893;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90967666	90967666	NM_002485.4:c.1242T>C	NP_002476.2:p.Asn414=	NC_000008.10:g.90967666A>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1222A>G (p.Lys408Glu)	4683	NBN	Benign;Likely benign	34120922	RCV000119194; RCV000200989; RCV000115778;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90967686	90967686	NM_002485.4:c.1222A>G	NP_002476.2:p.Lys408Glu	NC_000008.10:g.90967686T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1202C>G (p.Pro401Arg)	4683	NBN	Uncertain significance	104895033	RCV000196440; RCV000114876; RCV000212743; RCV000131207;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374; MedGen:CN221809	8	90967706	90967706	NM_002485.4:c.1202C>G	NP_002476.2:p.Pro401Arg	NC_000008.10:g.90967706G>A,NC_000008.10:g.90967706G>C,NC_000008.10:g.90967706G>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided; CN169374 not specified
NM_002485.4(NBN):c.1202C>A (p.Pro401His)	4683	NBN	Uncertain significance	104895033	RCV000206791; RCV000217964;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C3280492,OMIM:614327,ORPHA:289539	8	90967706	90967706	NM_002485.4:c.1202C>A	NP_002476.2:p.Pro401His		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; C3280492 614327 Tumor predisposition syndrome
NM_002485.4(NBN):c.1142delC (p.Pro381Glnfs)	4683	NBN	Pathogenic	587781969	RCV000007358; RCV000220768; RCV000130355;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN221809	8	90967766	90967766	NM_002485.4:c.1142delC	NP_002476.2:p.Pro381Glnfs	NC_000008.10:g.90967766delG	OMIM Allelic Variant:602667.0005	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided
NM_002485.4(NBN):c.1133G>C (p.Ser378Thr)	4683	NBN	Uncertain significance	864622123	RCV000206036;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90967775	90967775	NM_002485.4:c.1133G>C	NP_002476.2:p.Ser378Thr	NC_000008.10:g.90967775C>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1129T>G (p.Leu377Val)	4683	NBN	Uncertain significance	587780547	RCV000119184;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90967779	90967779	NM_002485.4:c.1129T>G	NP_002476.2:p.Leu377Val	NC_000008.10:g.90967779A>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1124+9T>G	4683	NBN	Likely benign	864622466	RCV000204394;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90970944	90970944	NM_002485.4:c.1124+9T>G		NC_000008.10:g.90970944A>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1124+6G>T	4683	NBN	Benign;Uncertain significance	375862750	RCV000199990; RCV000127086;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90970947	90970947	NM_002485.4:c.1124+6G>T		NC_000008.10:g.90970947C>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1089C>A (p.Tyr363Ter)	4683	NBN	Pathogenic	121908974	RCV000007362;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90970988	90970988	NM_002485.4:c.1089C>A	NP_002476.2:p.Tyr363Ter	NC_000008.10:g.90970988G>A,NC_000008.10:g.90970988G>T	OMIM Allelic Variant:602667.0008	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1089C>T (p.Tyr363=)	4683	NBN	Benign;Likely benign;Uncertain significance	121908974	RCV000196191; RCV000180587; RCV000212742; RCV000160770;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374; MedGen:CN221809	8	90970988	90970988	NM_002485.4:c.1089C>T	NP_002476.2:p.Tyr363=	NC_000008.10:g.90970988G>A,NC_000008.10:g.90970988G>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided; CN169374 not specified
NM_002485.4(NBN):c.1057A>C (p.Met353Leu)	4683	NBN	Uncertain significance	864622489	RCV000206611;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90971020	90971020	NM_002485.4:c.1057A>C	NP_002476.2:p.Met353Leu	NC_000008.10:g.90971020T>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1036G>A (p.Val346Met)	4683	NBN	Likely benign;Uncertain significance	200297914	RCV000206863; RCV000212741; RCV000115776;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90971041	90971041	NM_002485.4:c.1036G>A	NP_002476.2:p.Val346Met	NC_000008.10:g.90971041C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.1035C>T (p.Gly345=)	4683	NBN	Benign;Likely benign;Uncertain significance	146605798	RCV000195975; RCV000115775;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90971042	90971042	NM_002485.4:c.1035C>T	NP_002476.2:p.Gly345=	NC_000008.10:g.90971042G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1030C>T (p.Gln344Ter)	4683	NBN	Pathogenic	767215758	RCV000170446; RCV000170448; RCV000220210;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN221809	8	90971047	90971047	NM_002485.4:c.1030C>T	NP_002476.2:p.Gln344Ter	NC_000008.10:g.90971047G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided
NM_002485.4(NBN):c.1030C>T (p.Gln344Ter)	4683	NBN	Pathogenic	767215758	RCV000170446; RCV000170448; RCV000220210;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN221809	8	90971047	90971047	NM_002485.4:c.1030C>T	NP_002476.2:p.Gln344Ter	NC_000008.10:g.90971047G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided
NM_002485.4(NBN):c.1020A>G (p.Pro340=)	4683	NBN	Likely benign	864622077	RCV000204268;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90971057	90971057	NM_002485.4:c.1020A>G	NP_002476.2:p.Pro340=	NC_000008.10:g.90971057T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.1008A>T (p.Thr336=)	4683	NBN	Likely benign	786201619	RCV000200113; RCV000163982;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90971069	90971069	NM_002485.4:c.1008A>T	NP_002476.2:p.Thr336=	NC_000008.10:g.90971069T>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.976C>T (p.Gln326Ter)	4683	NBN	Pathogenic	121908973	RCV000007359; RCV000166946;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90976656	90976656	NM_002485.4:c.976C>T	NP_002476.2:p.Gln326Ter	NC_000008.10:g.90976656G>A	OMIM Allelic Variant:602667.0006	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.966C>T (p.Tyr322=)	4683	NBN	Likely benign	748453607	RCV000204762; RCV000163106;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90976666	90976666	NM_002485.4:c.966C>T	NP_002476.2:p.Tyr322=	NC_000008.10:g.90976666G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.939G>A (p.Ala313=)	4683	NBN	Benign;Likely benign	145750430	RCV000123221; RCV000212728; RCV000127084;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90976693	90976693	NM_002485.4:c.939G>A	NP_002476.2:p.Ala313=	NC_000008.10:g.90976693C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.938C>T (p.Ala313Val)	4683	NBN	Uncertain significance	730881862	RCV000204213; RCV000180229; RCV000212739; RCV000160802;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374; MedGen:CN221809	8	90976694	90976694	NM_002485.4:c.938C>T	NP_002476.2:p.Ala313Val	NC_000008.10:g.90976694G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided; CN169374 not specified
NM_002485.4(NBN):c.930T>A (p.Ile310=)	4683	NBN	Likely benign	142813526	RCV000197141; RCV000162715;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90976702	90976702	NM_002485.4:c.930T>A	NP_002476.2:p.Ile310=	NC_000008.10:g.90976702A>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.897-2A>T	4683	NBN	Likely pathogenic	864622090	RCV000204744; RCV000222760;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C3280492,OMIM:614327,ORPHA:289539	8	90976737	90976737	NM_002485.4:c.897-2A>T		NC_000008.10:g.90976737T>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; C3280492 614327 Tumor predisposition syndrome
NM_002485.4(NBN):c.854G>C (p.Cys285Ser)	4683	NBN	Uncertain significance	863224715	RCV000196198;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90982634	90982634	NM_002485.4:c.854G>C	NP_002476.2:p.Cys285Ser	NC_000008.10:g.90982634C>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.842dupT (p.Leu281Phefs)	4683	NBN	Pathogenic	864309669	RCV000007357;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90982646	90982646	NM_002485.4:c.842dupT	NP_002476.2:p.Leu281Phefs	NC_000008.10:g.90982646dupA	OMIM Allelic Variant:602667.0004	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.842T>G (p.Leu281Ter)	4683	NBN	Pathogenic	786205135	RCV000170446; RCV000170447;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90982646	90982646	NM_002485.4:c.842T>G	NP_002476.2:p.Leu281Ter	NC_000008.10:g.90982646A>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided
NM_002485.4(NBN):c.842T>G (p.Leu281Ter)	4683	NBN	Pathogenic	786205135	RCV000170446; RCV000170447;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90982646	90982646	NM_002485.4:c.842T>G	NP_002476.2:p.Leu281Ter	NC_000008.10:g.90982646A>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.835_838delCAGA (p.Gln279Profs)	4683	NBN	Pathogenic	864309668	RCV000007356;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90982650	90982653	NM_002485.4:c.835_838delCAGA	NP_002476.2:p.Gln279Profs	NC_000008.10:g.90982650_90982653delTCTG	OMIM Allelic Variant:602667.0003	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.836A>C (p.Gln279Pro)	4683	NBN	Uncertain significance	864622116	RCV000206209;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90982652	90982652	NM_002485.4:c.836A>C	NP_002476.2:p.Gln279Pro	NC_000008.10:g.90982652T>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.827C>G (p.Thr276Arg)	4683	NBN	Uncertain significance	864622304	RCV000205187; RCV000219109;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C3280492,OMIM:614327,ORPHA:289539	8	90982661	90982661	NM_002485.4:c.827C>G	NP_002476.2:p.Thr276Arg		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; C3280492 614327 Tumor predisposition syndrome
NM_002485.4(NBN):c.819A>T (p.Thr273=)	4683	NBN	Likely benign	147660518	RCV000123220; RCV000163635;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90982669	90982669	NM_002485.4:c.819A>T	NP_002476.2:p.Thr273=	NC_000008.10:g.90982669T>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.808_809delGT (p.Val270Cysfs)	4683	NBN	Pathogenic	786202490	RCV000205978; RCV000165330;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90982679	90982680	NM_002485.4:c.808_809delGT	NP_002476.2:p.Val270Cysfs	NC_000008.10:g.90982679_90982680delAC	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.797C>T (p.Pro266Leu)	4683	NBN	Benign	769420	RCV000206032; RCV000121625; RCV000129165;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90982691	90982691	NM_002485.4:c.797C>T	NP_002476.2:p.Pro266Leu	NC_000008.10:g.90982691G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.794C>T (p.Ala265Val)	4683	NBN	Uncertain significance	61612852	RCV000204340;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90982694	90982694	NM_002485.4:c.794C>T	NP_002476.2:p.Ala265Val	NC_000008.10:g.90982694G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.788T>C (p.Phe263Ser)	4683	NBN	Uncertain significance	147626427	RCV000199794; RCV000212737; RCV000115806;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90982700	90982700	NM_002485.4:c.788T>C	NP_002476.2:p.Phe263Ser	NC_000008.10:g.90982700A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.775G>A (p.Glu259Lys)	4683	NBN	Uncertain significance	201559159	RCV000204371; RCV000212736; RCV000160783;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90982713	90982713	NM_002485.4:c.775G>A	NP_002476.2:p.Glu259Lys	NC_000008.10:g.90982713C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.758C>T (p.Thr253Ile)	4683	NBN	Uncertain significance	61754967	RCV000168183; RCV000121624; RCV000115805;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90982730	90982730	NM_002485.4:c.758C>T	NP_002476.2:p.Thr253Ile	NC_000008.10:g.90982730G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.741_742dupGG (p.Glu248Glyfs)	4683	NBN	Pathogenic	864309670	RCV000007364;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90982746	90982747	NM_002485.4:c.741_742dupGG	NP_002476.2:p.Glu248Glyfs	NC_000008.10:g.90982746_90982747dupCC	OMIM Allelic Variant:602667.0010	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.720C>T (p.Ser240=)	4683	NBN	Likely benign	781323381	RCV000200390; RCV000163086;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90982768	90982768	NM_002485.4:c.720C>T	NP_002476.2:p.Ser240=	NC_000008.10:g.90982768G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.702+7A>G	4683	NBN	Likely benign	864622602	RCV000205440;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90983394	90983394	NM_002485.4:c.702+7A>G		NC_000008.10:g.90983394T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.698_701delAACA (p.Lys233Serfs)	4683	NBN	Pathogenic	587780100	RCV000193543; RCV000212735; RCV000115804;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN221809	8	90983402	90983405	NM_002485.4:c.698_701delAACA	NP_002476.2:p.Lys233Serfs	NC_000008.10:g.90983402_90983405delTGTT	OMIM Allelic Variant:602667.0002	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided
NM_002485.4(NBN):c.683T>G (p.Ile228Arg)	4683	NBN	Uncertain significance	777460725	RCV000198580; RCV000214733; RCV000165931;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90983420	90983420	NM_002485.4:c.683T>G	NP_002476.2:p.Ile228Arg	NC_000008.10:g.90983420A>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.671G>A (p.Gly224Glu)	4683	NBN	Uncertain significance	199845467	RCV000196737; RCV000222691; RCV000129875;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90983432	90983432	NM_002485.4:c.671G>A	NP_002476.2:p.Gly224Glu	NC_000008.10:g.90983432C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.664T>C (p.Phe222Leu)	4683	NBN	Uncertain significance	541992192	RCV000123219; RCV000212734; RCV000129030;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90983439	90983439	NM_002485.4:c.664T>C	NP_002476.2:p.Phe222Leu	NC_000008.10:g.90983439A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.657_661delACAAA (p.Lys219Asnfs)	4683	NBN	Pathogenic;risk factor	587776650	RCV000007353; RCV000007354; RCV000212733; RCV000133576;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C2676676,OMIM:604370; MedGen:CN221809	8	90983442	90983446	NM_002485.4:c.657_661delACAAA	NP_002476.2:p.Lys219Asnfs	NC_000008.10:g.90983442_90983446delTTTGT	OMIM Allelic Variant:602667.0001	C2676676 604370 Breast-ovarian cancer, familial 1; C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided
NM_002485.4(NBN):c.643C>T (p.Arg215Trp)	4683	NBN	Benign;Likely benign;Pathogenic;Uncertain significance	34767364	RCV000007363; RCV000179408; RCV000121621; RCV000115802;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374; MedGen:CN221809	8	90983460	90983460	NM_002485.4:c.643C>T	NP_002476.2:p.Arg215Trp	NC_000008.10:g.90983460G>A	OMIM Allelic Variant:602667.0009	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided; CN169374 not specified
NM_002485.4(NBN):c.633T>A (p.Asp211Glu)	4683	NBN	Uncertain significance	377700348	RCV000199629; RCV000128984;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90983470	90983470	NM_002485.4:c.633T>A	NP_002476.2:p.Asp211Glu	NC_000008.10:g.90983470A>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.628G>T (p.Val210Phe)	4683	NBN	Uncertain significance	61754796	RCV000168062; RCV000114880; RCV000121622; RCV000115801;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374; MedGen:CN221809	8	90983475	90983475	NM_002485.4:c.628G>T	NP_002476.2:p.Val210Phe	NC_000008.10:g.90983475C>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided; CN169374 not specified
NM_002485.4(NBN):c.596C>G (p.Pro199Arg)	4683	NBN	Uncertain significance	730881844	RCV000205060; RCV000212731; RCV000160780;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90983507	90983507	NM_002485.4:c.596C>G	NP_002476.2:p.Pro199Arg	NC_000008.10:g.90983507G>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.585-3C>T	4683	NBN	Uncertain significance	779430868	RCV000206379;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90983521	90983521	NM_002485.4:c.585-3C>T		NC_000008.10:g.90983521G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.536A>T (p.Glu179Val)	4683	NBN	Uncertain significance	864622578	RCV000206504;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90990496	90990496	NM_002485.4:c.536A>T	NP_002476.2:p.Glu179Val	NC_000008.10:g.90990496T>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.511A>G (p.Ile171Val)	4683	NBN	Benign;Pathogenic;Uncertain significance;risk factor	61754966	RCV000197512; RCV000007360; RCV000007361; RCV000178867; RCV000121618; RCV000115797;	N	MedGen:C0002874,OMIM:609135,SNOMED CT:306058006; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C1840513; MedGen:CN169374; MedGen:CN221809	8	90990521	90990521	NM_002485.4:c.511A>G	NP_002476.2:p.Ile171Val	NC_000008.10:g.90990521T>C	OMIM Allelic Variant:602667.0007	C0002874 609135 Aplastic anemia; C0027672 Hereditary cancer-predisposing syndrome; C1840513 Leukemia, acute lymphoblastic, susceptibility to; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided; CN169374 not
NM_002485.4(NBN):c.505C>T (p.Arg169Cys)	4683	NBN	Uncertain significance	182756889	RCV000123218; RCV000212730; RCV000115796;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90990527	90990527	NM_002485.4:c.505C>T	NP_002476.2:p.Arg169Cys	NC_000008.10:g.90990527G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.471T>C (p.Val157=)	4683	NBN	Likely benign	864622275	RCV000203688;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90992971	90992971	NM_002485.4:c.471T>C	NP_002476.2:p.Val157=	NC_000008.10:g.90992971A>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.456G>A (p.Met152Ile)	4683	NBN	Uncertain significance	201816949	RCV000197783; RCV000212729; RCV000115795;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90992986	90992986	NM_002485.4:c.456G>A	NP_002476.2:p.Met152Ile	NC_000008.10:g.90992986C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.441C>T (p.Cys147=)	4683	NBN	Likely benign	137857529	RCV000198138; RCV000214383;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C3280492,OMIM:614327,ORPHA:289539	8	90993001	90993001	NM_002485.4:c.441C>T	NP_002476.2:p.Cys147=	NC_000008.10:g.90993001G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; C3280492 614327 Tumor predisposition syndrome
NM_002485.4(NBN):c.426T>C (p.Asn142=)	4683	NBN	Likely benign	143070291	RCV000204472; RCV000163797;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90993016	90993016	NM_002485.4:c.426T>C	NP_002476.2:p.Asn142=	NC_000008.10:g.90993016A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.425A>G (p.Asn142Ser)	4683	NBN	Uncertain significance	769414	RCV000168260; RCV000121617; RCV000115794;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90993017	90993017	NM_002485.4:c.425A>G	NP_002476.2:p.Asn142Ser	NC_000008.10:g.90993017T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.415A>G (p.Thr139Ala)	4683	NBN	Likely benign;Uncertain significance	543852763	RCV000168457; RCV000221936; RCV000165497;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90993027	90993027	NM_002485.4:c.415A>G	NP_002476.2:p.Thr139Ala	NC_000008.10:g.90993027T>C	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.384A>G (p.Leu128=)	4683	NBN	Likely benign	587780782	RCV000123217; RCV000219664;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C3280492,OMIM:614327,ORPHA:289539	8	90993058	90993058	NM_002485.4:c.384A>G	NP_002476.2:p.Leu128=	NC_000008.10:g.90993058T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; C3280492 614327 Tumor predisposition syndrome
NM_002485.4(NBN):c.381T>C (p.Ala127=)	4683	NBN	Benign;Likely benign	61754795	RCV000119198; RCV000119323; RCV000178181; RCV000157764;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374; MedGen:CN221809	8	90993061	90993061	NM_002485.4:c.381T>C	NP_002476.2:p.Ala127=	NC_000008.10:g.90993061A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN221809 not provided; CN169374 not specified
NM_002485.4(NBN):c.353_355delCTT (p.Ser118del)	4683	NBN	Uncertain significance	730881841	RCV000198706; RCV000160768;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90993087	90993089	NM_002485.4:c.353_355delCTT	NP_002476.2:p.Ser118del	NC_000008.10:g.90993087_90993089delAAG	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.340G>T (p.Val114Phe)	4683	NBN	Uncertain significance	771034958	RCV000206877; RCV000220601;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C3280492,OMIM:614327,ORPHA:289539	8	90993102	90993102	NM_002485.4:c.340G>T	NP_002476.2:p.Val114Phe		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; C3280492 614327 Tumor predisposition syndrome
NM_002485.4(NBN):c.321-3C>T	4683	NBN	Uncertain significance	751356470	RCV000205632; RCV000220537;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90993124	90993124	NM_002485.4:c.321-3C>T		NC_000008.10:g.90993124G>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.286G>A (p.Gly96Ser)	4683	NBN	Uncertain significance	730882133	RCV000161942;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90993637	90993637	NM_002485.4:c.286G>A	NP_002476.2:p.Gly96Ser	NC_000008.10:g.90993637C>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.283G>A (p.Asp95Asn)	4683	NBN	Benign;Likely benign;Uncertain significance	61753720	RCV000123216; RCV000121616; RCV000115792;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90993640	90993640	NM_002485.4:c.283G>A	NP_002476.2:p.Asp95Asn	NC_000008.10:g.90993640C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.279G>A (p.Ser93=)	4683	NBN	Likely benign	587780781	RCV000123215; RCV000165927;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90993644	90993644	NM_002485.4:c.279G>A	NP_002476.2:p.Ser93=	NC_000008.10:g.90993644C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.278C>T (p.Ser93Leu)	4683	NBN	Likely benign;Uncertain significance	12721593	RCV000168344; RCV000193311; RCV000131226;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90993645	90993645	NM_002485.4:c.278C>T	NP_002476.2:p.Ser93Leu	NC_000008.10:g.90993645G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.266G>A (p.Arg89Gln)	4683	NBN	Uncertain significance	747315554	RCV000204158; RCV000215544;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C3280492,OMIM:614327,ORPHA:289539	8	90993657	90993657	NM_002485.4:c.266G>A	NP_002476.2:p.Arg89Gln		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; C3280492 614327 Tumor predisposition syndrome
NM_002485.4(NBN):c.227C>A (p.Thr76Asn)	4683	NBN	Uncertain significance	587781412	RCV000200027; RCV000212727; RCV000129274;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90993696	90993696	NM_002485.4:c.227C>A	NP_002476.2:p.Thr76Asn	NC_000008.10:g.90993696G>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.224G>C (p.Gly75Ala)	4683	NBN	Uncertain significance	587782179	RCV000197450; RCV000213490; RCV000130798;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90993699	90993699	NM_002485.4:c.224G>C	NP_002476.2:p.Gly75Ala	NC_000008.10:g.90993699C>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.211_212insGA (p.Asn71Argfs)	4683	NBN	Pathogenic	762664474	RCV000200419;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90993711	90993712	NM_002485.4:c.211_212insGA	NP_002476.2:p.Asn71Argfs	NC_000008.10:g.90993711_90993712insTC	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.171+4T>C	4683	NBN	Uncertain significance	587782290	RCV000205676; RCV000131170;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90994946	90994946	NM_002485.4:c.171+4T>C		NC_000008.10:g.90994946A>G	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.120G>T (p.Ser40=)	4683	NBN	Likely benign	774989816	RCV000203744; RCV000163710;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90995001	90995001	NM_002485.4:c.120G>T	NP_002476.2:p.Ser40=	NC_000008.10:g.90995001C>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.115delC (p.Gln39Serfs)	4683	NBN	Pathogenic	864622511	RCV000204010;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90995006	90995006	NM_002485.4:c.115delC	NP_002476.2:p.Gln39Serfs	NC_000008.10:g.90995006delG	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.104T>C (p.Ile35Thr)	4683	NBN	Uncertain significance	587780773	RCV000123202; RCV000221417;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C3280492,OMIM:614327,ORPHA:289539	8	90995017	90995017	NM_002485.4:c.104T>C	NP_002476.2:p.Ile35Thr	NC_000008.10:g.90995017A>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; C3280492 614327 Tumor predisposition syndrome
NM_002485.4(NBN):c.93_94delTG (p.Ala32Hisfs)	4683	NBN	Pathogenic	864622253	RCV000206712; RCV000221111;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:C3280492,OMIM:614327,ORPHA:289539	8	90995027	90995028	NM_002485.4:c.93_94delTG	NP_002476.2:p.Ala32Hisfs		-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; C3280492 614327 Tumor predisposition syndrome
NM_002485.4(NBN):c.47A>C (p.Tyr16Ser)	4683	NBN	Uncertain significance	864622726	RCV000204001;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90995074	90995074	NM_002485.4:c.47A>C	NP_002476.2:p.Tyr16Ser	NC_000008.10:g.90995074T>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.38-7A>G	4683	NBN	Likely benign	863224392	RCV000197294;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90995090	90995090	NM_002485.4:c.38-7A>G		NC_000008.10:g.90995090T>C	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.38-10T>A	4683	NBN	Benign;Likely benign	556807466	RCV000200594; RCV000212725; RCV000127085;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90995093	90995093	NM_002485.4:c.38-10T>A		NC_000008.10:g.90995093A>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified
NM_002485.4(NBN):c.37+10G>C	4683	NBN	Likely benign	369408590	RCV000198382;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90996743	90996743	NM_002485.4:c.37+10G>C		NC_000008.10:g.90996743C>G	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.37+6G>T	4683	NBN	Uncertain significance	540868733	RCV000195899;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90996747	90996747	NM_002485.4:c.37+6G>T		NC_000008.10:g.90996747C>A	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.37+5G>A	4683	NBN	Benign	116735828	RCV000206525; RCV000129181;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90996748	90996748	NM_002485.4:c.37+5G>A		NC_000008.10:g.90996748C>T	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.19G>A (p.Ala7Thr)	4683	NBN	Uncertain significance	587780779	RCV000123211;	N	MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009	8	90996771	90996771	NM_002485.4:c.19G>A	NP_002476.2:p.Ala7Thr	NC_000008.10:g.90996771C>T	-	C0398791 251260 Microcephaly, normal intelligence and immunodeficiency
NM_002485.4(NBN):c.16C>T (p.Pro6Ser)	4683	NBN	Uncertain significance	730881859	RCV000197183; RCV000212724; RCV000160798;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0398791,OMIM:251260,ORPHA:647,SNOMED CT:234638009; MedGen:CN169374	8	90996774	90996774	NM_002485.4:c.16C>T	NP_002476.2:p.Pro6Ser	NC_000008.10:g.90996774G>A	-	C0027672 Hereditary cancer-predisposing syndrome; C0398791 251260 Microcephaly, normal intelligence and immunodeficiency; CN169374 not specified