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: 22q11 Deletion Syndrome (D058165)
..Starting node ..DiGeorge Syndrome (D004062)
Child Nodes:
........Chromosome 22q11.2 Deletion Syndrome, Distal (C567511)
........Chromosome 22q11.2 Microduplication Syndrome (C567224)
........Digeorge Syndrome-Velocardiofacial Syndrome Complex 2 (C563337)
........Takao VCF Syndrome (C566051)
Sister Nodes:
..DiGeorge Syndrome (D004062) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

3720

Name:

DiGeorge Syndrome

Definition:

Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.

Alternative IDs:

DO:DOID:11198|DO:DOID:12583|OMIM:188400|OMIM:192430

ParentIDs:

MESH:D058165

TreeNumbers:

C05.660.207.103.500 |C14.240.400.021.500 |C14.280.400.044.500 |C15.604.451.249.500 |C16.131.077.019.500 |C16.131.240.400.021.500 |C16.131.260.019.500 |C16.131.482.249.500 |C16.131.621.207.103.500 |C16.320.180.019.500 |C19.642.482.500.500

Synonyms:

Slim Mappings:

Reference:

MedGen: D004062
MeSH: D004062
OMIM: 188400;
MSeqDR :
Genes: TBX1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000370	Abnormality of the middle ear
3	HP:0000777	Abnormality of the thymus
4	HP:0001061	Acne	HP:0040284
5	HP:0000646	Amblyopia
6	HP:0007018	Attention deficit hyperactivity disorder
7	HP:0000193	Bifid uvula
8	HP:0007302	Bipolar affective disorder NAMDC: Bipolar disorder
9	HP:0000581	Blepharophimosis
10	HP:0001081	Cholelithiasis
11	HP:0000175	Cleft palate
12	HP:0000750	Delayed speech and language development NAMDC: Delayed language
13	HP:0025312	Esophoria
14	HP:0000565	Esotropia
15	HP:0000577	Exotropia
16	HP:0100541	Femoral hernia
17	HP:0001263	Global developmental delay NAMDC: Mental retardation
18	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
19	HP:0000218	High palate
20	HP:0002705	High, narrow palate
21	HP:0000126	Hydronephrosis
22	HP:0000316	Hypertelorism
23	HP:0002901	Hypocalcemia
24	HP:0000821	Hypothyroidism NAMDC: Hypothyroidism
25	HP:0005435	Impaired T cell function
26	HP:0000023	Inguinal hernia
27	HP:0011611	Interrupted aortic arch
28	HP:0000369	Low-set ears
29	HP:0000347	Micrognathia
30	HP:0001611	Nasal speech
31	HP:0001513	Obesity
32	HP:0008211	Parathyroid agenesis
33	HP:0000860	Parathyroid hypoplasia
34	HP:0001643	Patent ductus arteriosus
35	HP:0000627	Posterior embryotoxon
36	HP:0002719	Recurrent infections
37	HP:0000110	Renal dysplasia
38	HP:0002627	Right aortic arch with mirror image branching
39	HP:0100753	Schizophrenia	HP:0040284
40	HP:0000647	Sclerocornea
41	HP:0002650	Scoliosis
42	HP:0001051	Seborrheic dermatitis
43	HP:0001250	Seizures NAMDC: Seizures
44	HP:0012745	Short palpebral fissure
45	HP:0000322	Short philtrum
46	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
47	HP:0001328	Specific learning disability
48	HP:0001281	Tetany
49	HP:0001636	Tetralogy of Fallot
50	HP:0001660	Truncus arteriosus
51	HP:0001537	Umbilical hernia
52	HP:0000122	Unilateral renal agenesis
53	HP:0001629	Ventricular septal defect

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
Single allele	2812	GP1BB	Pathogenic	-1	RCV001003853;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18475385	23764120	na	na		-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
GRCh37/hg19 22q11.21(chr22:18918741-20311922)	-1	subset of 28 genes: TBX1	Pathogenic	-1	RCV000767628;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18918741	20311922	na	na		-
NC_000022.10:g.(?_18900688)_(21351637_?)del	-1	subset of 43 genes: CRKL:TBX1	Pathogenic	-1	RCV001383366\|RCV001871994;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	18900688	21351637	na	na	-1	-
GRCh37/hg19 22q11.21(chr22:18901004-21408430)	-1	subset of 46 genes: CRKL:TBX1	Pathogenic	-1	RCV000767594;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18901004	21408430	na	na		-
GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1	-1	subset of 46 genes: CRKL:TBX1	Pathogenic	-1	RCV000788056;	N	MONDO:MONDO:0008644,MedGen:C0220704,OMIM:192430, Orphanet:567; MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18912231	21465672	na	na		-
GRCh37/hg19 22q11.21(chr22:18912403-21431174)	-1	subset of 46 genes: CRKL:TBX1	Pathogenic	-1	RCV000767629;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18912403	21431174	na	na		-
GRCh37/hg19 22q11.21(chr22:18912403-21431174)	-1	subset of 46 genes: CRKL:TBX1	Pathogenic	-1	RCV001195119;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18912403	21431174	na	na		-
GRCh37/hg19 22q11.21(chr22:18912870-21431174)	-1	subset of 46 genes: CRKL:TBX1	Pathogenic	-1	RCV000767633;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18912870	21431174	na	na		-
GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1	-1	subset of 46 genes: CRKL:TBX1	Pathogenic	-1	RCV000788058;	N	MONDO:MONDO:0008644,MedGen:C0220704,OMIM:192430, Orphanet:567; MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18922151	21449911	na	na		-
GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1	-1	subset of 47 genes: CRKL:TBX1	Pathogenic	-1	RCV000856641;	N	MONDO:MONDO:0008644,MedGen:C0220704,OMIM:192430, Orphanet:567; MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18661724	21505417	na	na		-
GRCh37/hg19 22q11.21(chr22:18892575-21460220)	-1	subset of 47 genes: CRKL:TBX1	Pathogenic	-1	RCV000767687;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18892575	21460220	na	na		-
GRCh37/hg19 22q11.21(chr22:18892575-21460220)	-1	subset of 47 genes: CRKL:TBX1	Pathogenic	-1	RCV000767692;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18892575	21460220	na	na		-
Single allele	-1	subset of 48 genes: CRKL:TBX1	Pathogenic	-1	RCV001391675;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18893882	21563420	na	na		-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
Single allele	-1	subset of 48 genes: CRKL:TBX1	Pathogenic	-1	RCV001391672;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18893882	21571027	na	na		-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
GRCh37/hg19 22q11.21(chr22:18900755-21800277)	-1	subset of 49 genes: CRKL:TBX1	Pathogenic	-1	RCV000767747;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18900755	21800277	na	na		-
GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1	-1	subset of 49 genes: CRKL:TBX1	Pathogenic	-1	RCV000788060;	N	MONDO:MONDO:0008644,MedGen:C0220704,OMIM:192430, Orphanet:567; MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18919477	21800471	na	na		-
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1	-1	subset of 51 genes: CRKL:TBX1	Pathogenic	-1	RCV000788057;	N	MONDO:MONDO:0008644,MedGen:C0220704,OMIM:192430, Orphanet:567; MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18631364	21800471	na	na		-
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1	-1	subset of 51 genes: CRKL:TBX1	Pathogenic	-1	RCV000788059;	N	MONDO:MONDO:0008644,MedGen:C0220704,OMIM:192430, Orphanet:567; MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18636749	21800471	na	na		-
NC_000022.10:g.(?_18900668)_(19770565_?)del	6899	TBX1	Pathogenic	-1	RCV000531380;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18900668	19770565	na	na		-	C0012236 188400 DiGeorge sequence;
NC_000022.10:g.(?_18900668)_(19770565_?)dup	6899	TBX1	Uncertain significance	-1	RCV001032842;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18900668	19770565	na	na	-1	-
NC_000022.10:g.(?_18900668)_(19747220_?)del	6899	TBX1	Pathogenic	-1	RCV001953537;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18900668	19747220	na	na	-1	-
NC_000022.10:g.(?_18900688)_(21351637_?)dup	6899	TBX1	Uncertain significance	-1	RCV001952526;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18900688	21351637	na	na	-1	-
NC_000022.10:g.(?_18910310)_(19770565_?)del	6899	TBX1	Pathogenic	-1	RCV000630488;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18910310	19770565	na	na		-	C0012236 188400 DiGeorge sequence;
NC_000022.10:g.(?_18910310)_(19770565_?)dup	6899	TBX1	Uncertain significance	-1	RCV001031037;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	18910310	19770565	na	na	-1	-
NC_000022.10:g.(?_19163623)_(19770565_?)del	6899	TBX1	Pathogenic	-1	RCV001032188;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19163623	19770565	na	na	-1	-
NC_000022.11:g.(?_19722428)_(19975757_?)del	6899	TBX1	Pathogenic	-1	RCV000708350;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19709951	19963280	na	na		-	C0012236 188400 DiGeorge sequence;
NC_000022.10:g.(?_19743226)_(19755855_?)dup	6899	TBX1	Uncertain significance	-1	RCV001346809;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19743226	19755855	na	na	-1	-
NC_000022.10:g.(?_19743226)_(19755855_?)del	6899	TBX1	Pathogenic	-1	RCV001383367;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19743226	19755855	na	na	-1	-
NC_000022.11:g.(?_19755901)_(19783042_?)del	6899	TBX1	Pathogenic	-1	RCV000707894;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19743424	19770565	na	na		-	C0012236 188400 DiGeorge sequence;
NC_000022.11:g.(?_19755901)_(19766877_?)del	6899	TBX1	Pathogenic	-1	RCV000817287;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19743424	19754400	na	na		-
NC_000022.11:g.(?_19755901)_(19759687_?)del	6899	TBX1	Pathogenic	-1	RCV001032464;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19743424	19747210	na	na	-1	-
NC_000022.10:g.19743424C>T	6899	TBX1	Benign	-1	RCV001518487;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19743424	19743424	C	T	19743424	-
NM_080647.1(TBX1):c.-882C>T	6899	TBX1	Benign	rs41298629	RCV000550229\|RCV001512398;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19743473	19743473	C	T	22:g.19743473C>T	ClinGen:CA322046410	C0012236 188400 DiGeorge sequence;
NC_000022.11:g.(?_19755950)_(19759697_?)del	6899	TBX1	Pathogenic	-1	RCV000793486;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19743473	19747220	na	na		-
NM_080647.1(TBX1):c.-39C>T	6899	TBX1	Benign/Likely benign	rs72646950	RCV000423971\|RCV000860848\|RCV001702464;	N	MedGen:CN169374\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19747128	19747128	C	T	22:g.19747128C>T	ClinGen:CA10102356	CN169374 not specified;
NC_000022.10:g.(?_19747167)_(19754390_?)del	6899	TBX1	Pathogenic	-1	RCV001383368;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19747167	19754390	na	na	-1	-
NM_080647.1(TBX1):c.15C>A (p.Thr5=)	6899	TBX1	Conflicting interpretations of pathogenicity	rs764497467	RCV000594806\|RCV001418836;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19747181	19747181	C	A	22:g.19747181C>A	ClinGen:CA10102371	CN169374 not specified;
NM_080647.1(TBX1):c.15C>T (p.Thr5=)	6899	TBX1	Likely benign	rs764497467	RCV000876999;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19747181	19747181	C	T	22:g.19747181C>T	-
NM_080647.1(TBX1):c.28A>G (p.Met10Val)	6899	TBX1	Uncertain significance	rs1936578247	RCV001319556;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19747194	19747194	A	G	19747194	-
NM_080647.1(TBX1):c.34+6C>T	6899	TBX1	Uncertain significance	rs1263773731	RCV001318014;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19747206	19747206	C	T	19747206	-
NM_001379200.1(TBX1):c.51C>T (p.Cys17=)	6899	TBX1	Likely benign	-1	RCV002171500;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748417	19748417	C	T	19748417	-
NM_001379200.1(TBX1):c.69G>C (p.Thr23=)	6899	TBX1	Likely benign	-1	RCV002192520;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748435	19748435	G	C	19748435	-
NM_001379200.1(TBX1):c.70G>A (p.Ala24Thr)	6899	TBX1	Uncertain significance	-1	RCV001888268;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748436	19748436	G	A	19748436	-
NM_001379200.1(TBX1):c.89_284del (p.Leu30fs)	6899	TBX1	Pathogenic	rs1936634853	RCV001247640;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748451	19748646	CAGCCTGGGGGCCGCGGGGGGCTTCCCGGGCGCCGCGTCGCCCGGCGCCGACCCGTACGGCCCGCGCGAGCCCCCGCCGCCGCCGCCGCGCTACGACCCGTGCGCCGCCG	C	22:g.19748451_19748549del	-
NM_001379200.1(TBX1):c.90G>T (p.Leu30=)	6899	TBX1	Benign/Likely benign	rs770754649	RCV000877988\|RCV001593118;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19748456	19748456	G	T	22:g.19748456G>T	-
NM_001379200.1(TBX1):c.95C>T (p.Ala32Val)	6899	TBX1	Uncertain significance	rs1415687525	RCV001232891;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748461	19748461	C	T	22:g.19748461C>T	-
NM_001379200.1(TBX1):c.96C>T (p.Ala32=)	6899	TBX1	Likely benign	rs931429492	RCV000949201\|RCV001410362;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748462	19748462	C	T	22:g.19748462C>T	-
NM_001379200.1(TBX1):c.97G>T (p.Ala33Ser)	6899	TBX1	Uncertain significance	rs1359119941	RCV001323967;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748463	19748463	G	T	19748463	-
NM_001379200.1(TBX1):c.101G>C (p.Gly34Ala)	6899	TBX1	Uncertain significance	rs1335862067	RCV001312405;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748467	19748467	G	C	19748467	-
NM_001379200.1(TBX1):c.102G>T (p.Gly34=)	6899	TBX1	Benign	rs72646952	RCV000620113\|RCV001513286\|RCV001597187;	N	MedGen:CN230736\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19748468	19748468	G	T	22:g.19748468G>T	ClinGen:CA10102384	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.108C>T (p.Phe36=)	6899	TBX1	Likely benign	-1	RCV002095357;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748474	19748474	C	T	19748474	-
NM_001379200.1(TBX1):c.109C>A (p.Pro37Thr)	6899	TBX1	Uncertain significance	-1	RCV002001232;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748475	19748475	C	A	19748475	-
NM_001379200.1(TBX1):c.119C>T (p.Ala40Val)	6899	TBX1	Uncertain significance	-1	RCV001938758;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748485	19748485	C	T	19748485	-
NM_001379200.1(TBX1):c.124C>T (p.Pro42Ser)	6899	TBX1	Uncertain significance	-1	RCV001366937;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748490	19748490	C	T	19748490	-
NM_001379200.1(TBX1):c.127G>T (p.Gly43Cys)	6899	TBX1	Uncertain significance	rs1936637392	RCV001066867;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748493	19748493	G	T	22:g.19748493G>T	-
NM_001379200.1(TBX1):c.127G>A (p.Gly43Ser)	6899	TBX1	Uncertain significance	-1	RCV001928154;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748493	19748493	G	A	19748493	-
NM_001379200.1(TBX1):c.137C>T (p.Pro46Leu)	6899	TBX1	Uncertain significance	-1	RCV001988946;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748503	19748503	C	T	19748503	-
NM_001379200.1(TBX1):c.152_232del (p.Glu51_His77del)	6899	TBX1	Uncertain significance	rs1601282938	RCV000788911\|RCV001349436;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748516	19748596	GCGAGCCCCCGCCGCCGCCGCCGCGCTACGACCCGTGCGCCGCCGCCGCCCCCGGCGCCCCGGGCCCGCCGCCGCCGCCGCA	G	22:g.19748516_19748596del	-
NM_001379200.1(TBX1):c.158CGC[6] (p.Pro57dup)	6899	TBX1	Conflicting interpretations of pathogenicity	rs886038791	RCV000242757\|RCV000813176;	N	MedGen:CN230736\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748522	19748523	C	CCCG	NC_000022.10:g.19748524CGC[6]	ClinGen:CA10587955	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.173_229del (p.Arg58_Pro76del)	6899	TBX1	Uncertain significance	rs1569018211	RCV001313053;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748522	19748578	CCCCGCCGCCGCCGCCGCGCTACGACCCGTGCGCCGCCGCCGCCCCCGGCGCCCCGGG	C	19748521	-
NM_001379200.1(TBX1):c.158CGC[3] (p.Pro56_Pro57del)	6899	TBX1	Uncertain significance	rs886038791	RCV000630485;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748523	19748528	CCCGCCG	C	NC_000022.10:g.19748524CGC[3]	ClinGen:CA322051980	C0012236 188400 DiGeorge sequence;
NM_001379200.1(TBX1):c.157C>T (p.Pro53Ser)	6899	TBX1	Uncertain significance	rs1936638931	RCV001048354;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748523	19748523	C	T	22:g.19748523C>T	-
NM_001379200.1(TBX1):c.167_229del (p.Pro56_Pro76del)	6899	TBX1	Uncertain significance	-1	RCV002040115;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748523	19748585	CCCGCCGCCGCCGCCGCGCTACGACCCGTGCGCCGCCGCCGCCCCCGGCGCCCCGGGCCCGCCG	C	19748522	-
NM_001379200.1(TBX1):c.158C>T (p.Pro53Leu)	6899	TBX1	Uncertain significance	rs1403071771	RCV001065771;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748524	19748524	C	T	22:g.19748524C>T	-
NM_001379200.1(TBX1):c.164C>T (p.Pro55Leu)	6899	TBX1	Uncertain significance	rs1464455403	RCV001223042;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748530	19748530	C	T	22:g.19748530C>T	-
NM_001379200.1(TBX1):c.182C>T (p.Pro61Leu)	6899	TBX1	Uncertain significance	-1	RCV001904518;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748548	19748548	C	T	19748548	-
NM_001379200.1(TBX1):c.183G>T (p.Pro61=)	6899	TBX1	Likely benign	-1	RCV002134159;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748549	19748549	G	T	19748549	-
NM_001379200.1(TBX1):c.187GCC[6] (p.Ala65_Ala66dup)	6899	TBX1	Uncertain significance	rs1032291296	RCV001209988;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748551	19748552	G	GCGCCGC	22:g.19748551_19748552insCGCCGC	-
NM_001379200.1(TBX1):c.187GCC[7] (p.Ala64_Ala66dup)	6899	TBX1	Uncertain significance	-1	RCV001864251;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748551	19748552	G	GCGCCGCCGC	19748551	-
NM_001379200.1(TBX1):c.187GCC[5] (p.Ala66dup)	6899	TBX1	Uncertain significance	-1	RCV001914750;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748551	19748552	G	GCGC	19748551	-
NM_001379200.1(TBX1):c.195_229del (p.Ala66fs)	6899	TBX1	Pathogenic	-1	RCV001866498;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748552	19748586	GCGCCGCCGCCGCCCCCGGCGCCCCGGGCCCGCCGC	G	19748551	-
NM_001379200.1(TBX1):c.186C>A (p.Cys62Ter)	6899	TBX1	Pathogenic	-1	RCV001880954;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748552	19748552	C	A	19748552	-
NM_001379200.1(TBX1):c.199_224del (p.Pro67fs)	6899	TBX1	Pathogenic	rs1936640897	RCV001220575;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748554	19748579	GCCGCCGCCGCCCCCGGCGCCCCGGGC	G	22:g.19748554_19748579del	-
NM_001379200.1(TBX1):c.194_202del (p.Ala65_Pro67del)	6899	TBX1	Uncertain significance	rs1601283061	RCV000824048;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748557	19748565	GCCGCCGCCC	G	22:g.19748557_19748565del	-
NM_001379200.1(TBX1):c.197C>T (p.Ala66Val)	6899	TBX1	Uncertain significance	rs1383914204	RCV001289312\|RCV001316190;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748563	19748563	C	T	19748563	-
NM_001379200.1(TBX1):c.198C>T (p.Ala66=)	6899	TBX1	Likely benign	-1	RCV001506664;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748564	19748564	C	T	19748564	-
NM_001379200.1(TBX1):c.200C>T (p.Pro67Leu)	6899	TBX1	Uncertain significance	-1	RCV002039410;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748566	19748566	C	T	19748566	-
NM_001379200.1(TBX1):c.201C>G (p.Pro67=)	6899	TBX1	Likely benign	rs1310802135	RCV000951831\|RCV001417013;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748567	19748567	C	G	22:g.19748567C>G	-
NM_001379200.1(TBX1):c.215CGC[7] (p.Pro75_Pro76dup)	6899	TBX1	Uncertain significance	rs1009463279	RCV000814765;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748579	19748580	C	CCCGCCG	22:g.19748579_19748580insCCGCCG	-
NM_001379200.1(TBX1):c.215CGC[6] (p.Pro76dup)	6899	TBX1	Benign/Likely benign	rs1009463279	RCV000874706\|RCV001550009;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19748579	19748580	C	CCCG	22:g.19748579_19748580insCCG	-
NM_001379200.1(TBX1):c.218C>T (p.Pro73Leu)	6899	TBX1	Uncertain significance	rs1936642852	RCV001337937;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748584	19748584	C	T	19748584	-
NM_001379200.1(TBX1):c.220C>T (p.Pro74Ser)	6899	TBX1	Uncertain significance	rs1936642931	RCV001228816;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748586	19748586	C	T	22:g.19748586C>T	-
NM_001379200.1(TBX1):c.226C>A (p.Pro76Thr)	6899	TBX1	Uncertain significance	rs1936643083	RCV001210426;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748592	19748592	C	A	22:g.19748592C>A	-
NM_001379200.1(TBX1):c.232G>A (p.Ala78Thr)	6899	TBX1	Conflicting interpretations of pathogenicity	rs1028072654	RCV000602621\|RCV001307830;	N	MedGen:CN169374\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748598	19748598	G	A	22:g.19748598G>A	ClinGen:CA322052007	CN169374 not specified;
NM_001379200.1(TBX1):c.238C>G (p.Pro80Ala)	6899	TBX1	Likely benign	rs952890575	RCV000618793\|RCV001474595\|RCV001562331;	N	MedGen:CN230736\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19748604	19748604	C	G	22:g.19748604C>G	ClinGen:CA322052012	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.239C>G (p.Pro80Arg)	6899	TBX1	Uncertain significance	rs984681986	RCV001053851;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748605	19748605	C	G	22:g.19748605C>G	-
NM_001379200.1(TBX1):c.246G>T (p.Ala82=)	6899	TBX1	Likely benign	-1	RCV002081263;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748612	19748612	G	T	19748612	-
NM_001379200.1(TBX1):c.253G>A (p.Ala85Thr)	6899	TBX1	Uncertain significance	rs769629385	RCV001297510;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748619	19748619	G	A	19748619	-
NM_001379200.1(TBX1):c.270C>A (p.Ser90Arg)	6899	TBX1	Uncertain significance	rs1478778776	RCV000686904;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748636	19748636	C	A	22:g.19748636C>A	-	C0012236 188400 DiGeorge sequence;
NM_001379200.1(TBX1):c.273C>T (p.Ala91=)	6899	TBX1	Likely benign	-1	RCV001500765;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748639	19748639	C	T	19748639	-
NM_001379200.1(TBX1):c.279C>T (p.Ala93=)	6899	TBX1	Likely benign	-1	RCV002215128;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748645	19748645	C	T	19748645	-
NM_001379200.1(TBX1):c.284C>G (p.Pro95Arg)	6899	TBX1	Uncertain significance	rs775295536	RCV001060552;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748650	19748650	C	G	22:g.19748650C>G	-
NM_001379200.1(TBX1):c.284C>T (p.Pro95Leu)	6899	TBX1	Uncertain significance	rs775295536	RCV001056014;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748650	19748650	C	T	22:g.19748650C>T	-
NM_001379200.1(TBX1):c.286G>C (p.Glu96Gln)	6899	TBX1	Uncertain significance	rs762629442	RCV001315970;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748652	19748652	G	C	19748652	-
NM_001379200.1(TBX1):c.303C>G (p.Ser101Arg)	6899	TBX1	Uncertain significance	rs774556411	RCV001309763\|RCV001751593;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19748669	19748669	C	G	19748669	-
NM_001379200.1(TBX1):c.310G>A (p.Ala104Thr)	6899	TBX1	Uncertain significance	rs1936647003	RCV001227514;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748676	19748676	G	A	22:g.19748676G>A	-
NM_001379200.1(TBX1):c.318C>G (p.Ala106=)	6899	TBX1	Conflicting interpretations of pathogenicity	-1	RCV001467116\|RCV001762689;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19748684	19748684	C	G	19748684	-
NM_001379200.1(TBX1):c.319A>T (p.Lys107Ter)	6899	TBX1	Pathogenic	rs1555895466	RCV000630482;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748685	19748685	A	T	22:g.19748685A>T	ClinGen:CA410681602	C0012236 188400 DiGeorge sequence;
NM_001379200.1(TBX1):c.324G>A (p.Ala108=)	6899	TBX1	Benign	rs72646953	RCV000249903\|RCV000536853\|RCV000993260\|RCV001699418;	N	MedGen:CN230736\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202\|MedGen:CN169374	22	19748690	19748690	G	A	22:g.19748690G>A	ClinGen:CA10102395	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.326C>T (p.Pro109Leu)	6899	TBX1	Uncertain significance	-1	RCV002027011;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748692	19748692	C	T	19748692	-
NM_001379200.1(TBX1):c.328G>T (p.Val110Leu)	6899	TBX1	Uncertain significance	rs1221938042	RCV001349844;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748694	19748694	G	T	19748694	-
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del)	6899	TBX1	Benign	rs369050575	RCV000547053\|RCV001573413;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19748696	19748698	TGAA	T	NC_000022.10:g.19748696GAA[2]	ClinGen:CA10102398	C0012236 188400 DiGeorge sequence;
NM_001379200.1(TBX1):c.348G>A (p.Val116=)	6899	TBX1	Benign	rs148928907	RCV000861588\|RCV001672965;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19748714	19748714	G	A	22:g.19748714G>A	-
NM_001379200.1(TBX1):c.369A>G (p.Leu123=)	6899	TBX1	Likely benign	rs541899328	RCV000952221\|RCV001450194;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748735	19748735	A	G	22:g.19748735A>G	-
NM_001379200.1(TBX1):c.380C>T (p.Ala127Val)	6899	TBX1	Uncertain significance	rs1601283489	RCV000816743;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748746	19748746	C	T	22:g.19748746C>T	-
NM_001379200.1(TBX1):c.390C>G (p.Asp130Glu)	6899	TBX1	Uncertain significance	rs772419022	RCV001238145;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748756	19748756	C	G	22:g.19748756C>G	-
NM_001379200.1(TBX1):c.393G>A (p.Glu131=)	6899	TBX1	Likely benign	-1	RCV002112202;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748759	19748759	G	A	19748759	-
NM_001379200.1(TBX1):c.399C>T (p.Asn133=)	6899	TBX1	Likely benign	-1	RCV001494092;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748765	19748765	C	T	19748765	-
NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys)	6899	TBX1	Conflicting interpretations of pathogenicity	rs1445910672	RCV000578422\|RCV000702287;	N	Human Phenotype Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500, Orphanet:3303\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748778	19748778	G	A	22:g.19748778G>A	ClinGen:CA410681809	C0012236 188400 DiGeorge sequence;
NM_001379200.1(TBX1):c.437+3C>T	6899	TBX1	Uncertain significance	rs759797253	RCV001339404;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748806	19748806	C	T	19748806	-
NM_001379200.1(TBX1):c.437+3C>G	6899	TBX1	Uncertain significance	-1	RCV001931217;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748806	19748806	C	G	19748806	-
NM_001379200.1(TBX1):c.437+10C>T	6899	TBX1	Likely benign	-1	RCV001393198;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748813	19748813	C	T	19748813	-
NM_001379200.1(TBX1):c.437+11C>T	6899	TBX1	Benign/Likely benign	rs751433208	RCV000430622\|RCV002063650;	N	MedGen:CN169374\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19748814	19748814	C	T	22:g.19748814C>T	ClinGen:CA10102417	CN169374 not specified;
NM_001379200.1(TBX1):c.438-7C>A	6899	TBX1	Uncertain significance	rs199903273	RCV001246361;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750757	19750757	C	A	22:g.19750757C>A	-
NM_001379200.1(TBX1):c.438-5C>G	6899	TBX1	Uncertain significance	rs972035685	RCV001063660\|RCV001536877;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19750759	19750759	C	G	22:g.19750759C>G	-
NM_001379200.1(TBX1):c.438-5C>A	6899	TBX1	Uncertain significance	rs972035685	RCV001316299;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750759	19750759	C	A	19750759	-
NM_001379200.1(TBX1):c.438G>A (p.Arg146=)	6899	TBX1	Uncertain significance	-1	RCV001874272;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750764	19750764	G	A	19750764	-
NM_001379200.1(TBX1):c.447T>C (p.Phe149=)	6899	TBX1	Benign	rs41298814	RCV000254087\|RCV000597969\|RCV000713779\|RCV001520748;	N	MedGen:CN230736\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750773	19750773	T	C	22:g.19750773T>C	ClinGen:CA10102441	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.447T>G (p.Phe149Leu)	6899	TBX1	Uncertain significance	rs41298814	RCV000815812;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750773	19750773	T	G	22:g.19750773T>G	-
NM_001379200.1(TBX1):c.448C>T (p.Pro150Ser)	6899	TBX1	Uncertain significance	rs1936725102	RCV001066782;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750774	19750774	C	T	22:g.19750774C>T	-
NM_001379200.1(TBX1):c.471C>T (p.Phe157=)	6899	TBX1	Benign/Likely benign	rs139776757	RCV000557193\|RCV000617164\|RCV001644624;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN230736\|MedGen:CN517202	22	19750797	19750797	C	T	22:g.19750797C>T	ClinGen:CA10102443	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.472G>A (p.Gly158Ser)	6899	TBX1	Uncertain significance	-1	RCV001892765;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750798	19750798	G	A	19750798	-
NM_001379200.1(TBX1):c.480T>A (p.Asp160Glu)	6899	TBX1	Uncertain significance	-1	RCV001364717;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750806	19750806	T	A	19750806	-
NM_001379200.1(TBX1):c.489C>T (p.Ala163=)	6899	TBX1	Likely benign	rs41298816	RCV000861573;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750815	19750815	C	T	22:g.19750815C>T	-
NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro)	6899	TBX1	Likely pathogenic	rs1936727304	RCV001249619;	N	Human Phenotype Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500, Orphanet:3303; MONDO:MONDO:0008644,MedGen:C0220704,OMIM:192430, Orphanet:567; MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750829	19750829	T	C	22:g.19750829T>C	-
NM_001379200.1(TBX1):c.511T>A (p.Phe171Ile)	6899	TBX1	Uncertain significance	-1	RCV002029764;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750837	19750837	T	A	19750837	-
NM_001379200.1(TBX1):c.518C>A (p.Pro173Gln)	6899	TBX1	Uncertain significance	-1	RCV002012799;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750844	19750844	C	A	19750844	-
NM_001379200.1(TBX1):c.519G>A (p.Pro173=)	6899	TBX1	Benign/Likely benign	rs111754814	RCV000620254\|RCV000713780\|RCV001088596;	N	MedGen:CN230736\|MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750845	19750845	G	A	22:g.19750845G>A	ClinGen:CA10102459	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.523G>A (p.Asp175Asn)	6899	TBX1	Uncertain significance	rs371125236	RCV001316376;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750849	19750849	G	A	19750849	-
NM_001379200.1(TBX1):c.525C>T (p.Asp175=)	6899	TBX1	Likely benign	rs538317719	RCV000952398\|RCV001452007;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750851	19750851	C	T	22:g.19750851C>T	-
NM_001379200.1(TBX1):c.538C>A (p.Arg180=)	6899	TBX1	Uncertain significance	rs746384751	RCV001352432;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750864	19750864	C	A	19750864	-
NM_001379200.1(TBX1):c.539+7G>A	6899	TBX1	Likely benign	-1	RCV001459524;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750872	19750872	G	A	19750872	-
NM_001379200.1(TBX1):c.539+8_539+10dup	6899	TBX1	Likely benign	-1	RCV001477073;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750872	19750873	G	GAGT	19750872	-
NM_001379200.1(TBX1):c.539+7G>C	6899	TBX1	Likely benign	-1	RCV002195980;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19750872	19750872	G	C	19750872	-
NM_001379200.1(TBX1):c.540-17A>C	6899	TBX1	Benign	-1	RCV002206629;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751661	19751661	A	C	19751661	-
NM_001379200.1(TBX1):c.540-16C>T	6899	TBX1	Benign	-1	RCV001513165;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751662	19751662	C	T	19751662	-
NM_001379200.1(TBX1):c.540-15C>G	6899	TBX1	Likely benign	-1	RCV001503145;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751663	19751663	C	G	19751663	-
NM_001379200.1(TBX1):c.540-13C>T	6899	TBX1	Likely benign	-1	RCV002145623;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751665	19751665	C	T	19751665	-
NM_001379200.1(TBX1):c.540-12G>A	6899	TBX1	Likely benign	-1	RCV002094340;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751666	19751666	G	A	19751666	-
NM_001379200.1(TBX1):c.540-8C>T	6899	TBX1	Benign/Likely benign	rs72646960	RCV000860941\|RCV001619843;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19751670	19751670	C	T	22:g.19751670C>T	-
NM_001379200.1(TBX1):c.540-7G>A	6899	TBX1	Benign	-1	RCV001511017;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751671	19751671	G	A	19751671	-
NM_001379200.1(TBX1):c.543C>T (p.Tyr181=)	6899	TBX1	Likely benign	-1	RCV001475457;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751681	19751681	C	T	19751681	-
NM_001379200.1(TBX1):c.544G>A (p.Ala182Thr)	6899	TBX1	Uncertain significance	rs1342897153	RCV001227997;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751682	19751682	G	A	22:g.19751682G>A	-
NM_001379200.1(TBX1):c.546C>T (p.Ala182=)	6899	TBX1	Likely benign	-1	RCV001491527;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751684	19751684	C	T	19751684	-
NM_001379200.1(TBX1):c.549C>T (p.Phe183=)	6899	TBX1	Likely benign	-1	RCV002088638;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751687	19751687	C	T	19751687	-
NM_001379200.1(TBX1):c.570G>A (p.Val190=)	6899	TBX1	Uncertain significance	-1	RCV001910376;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751708	19751708	G	A	19751708	-
NM_001379200.1(TBX1):c.582C>T (p.Ala194=)	6899	TBX1	Likely benign	-1	RCV002121066;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751720	19751720	C	T	19751720	-
NM_001379200.1(TBX1):c.591C>T (p.Ala197=)	6899	TBX1	Likely benign	-1	RCV002173692;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751729	19751729	C	T	19751729	-
NM_001379200.1(TBX1):c.594G>A (p.Thr198=)	6899	TBX1	Benign/Likely benign	rs138724943	RCV000617995\|RCV001087768\|RCV000878552;	N	MedGen:CN230736\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19751732	19751732	G	A	22:g.19751732G>A	ClinGen:CA10102498	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.603C>T (p.Arg201=)	6899	TBX1	Likely benign	rs761495882	RCV000878380;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751741	19751741	C	T	22:g.19751741C>T	-
NM_001379200.1(TBX1):c.618G>A (p.Pro206=)	6899	TBX1	Uncertain significance	rs1177792242	RCV001234323;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751756	19751756	G	A	22:g.19751756G>A	-
NM_001379200.1(TBX1):c.624G>A (p.Ser208=)	6899	TBX1	Likely benign	rs754390970	RCV000913776\|RCV001494807;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751762	19751762	G	A	22:g.19751762G>A	-
NM_001379200.1(TBX1):c.632A>G (p.Lys211Arg)	6899	TBX1	Uncertain significance	-1	RCV001944947;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751770	19751770	A	G	19751770	-
NM_001379200.1(TBX1):c.636C>T (p.Gly212=)	6899	TBX1	Uncertain significance	rs779173153	RCV000820840;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751774	19751774	C	T	22:g.19751774C>T	-
NM_001379200.1(TBX1):c.637G>A (p.Ala213Thr)	6899	TBX1	Uncertain significance	rs748232668	RCV001317076;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751775	19751775	G	A	19751775	-
NM_001379200.1(TBX1):c.646A>G (p.Met216Val)	6899	TBX1	Uncertain significance	rs1224140312	RCV001221091;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751784	19751784	A	G	22:g.19751784A>G	-
NM_001379200.1(TBX1):c.654A>G (p.Gln218=)	6899	TBX1	Likely benign	-1	RCV001462437;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751792	19751792	A	G	19751792	-
NM_001379200.1(TBX1):c.657C>T (p.Ile219=)	6899	TBX1	Likely benign	rs141186024	RCV000620346\|RCV000877858\|RCV001476384;	N	MedGen:CN230736\|MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751795	19751795	C	T	22:g.19751795C>T	ClinGen:CA10102513	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.658G>A (p.Val220Met)	6899	TBX1	Uncertain significance	-1	RCV001932866;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751796	19751796	G	A	19751796	-
NM_001379200.1(TBX1):c.663C>T (p.Ser221=)	6899	TBX1	Likely benign	-1	RCV001407628;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751801	19751801	C	T	19751801	-
NM_001379200.1(TBX1):c.666C>T (p.Phe222=)	6899	TBX1	Likely benign	-1	RCV002154642;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751804	19751804	C	T	19751804	-
NM_001379200.1(TBX1):c.691C>T (p.Leu231=)	6899	TBX1	Benign	rs2301558	RCV000251932\|RCV000454719\|RCV000713781\|RCV001520749;	N	MedGen:CN230736\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751829	19751829	C	T	22:g.19751829C>T	ClinGen:CA10102521	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.699C>T (p.Asp233=)	6899	TBX1	Likely benign	-1	RCV001452946;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751837	19751837	C	T	19751837	-
NM_001379200.1(TBX1):c.700G>A (p.Asp234Asn)	6899	TBX1	Uncertain significance	rs765827737	RCV001202423;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751838	19751838	G	A	22:g.19751838G>A	-
NM_001379200.1(TBX1):c.702C>T (p.Asp234=)	6899	TBX1	Likely benign	-1	RCV002126359;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751840	19751840	C	T	19751840	-
NM_001379200.1(TBX1):c.705C>T (p.Asn235=)	6899	TBX1	Benign/Likely benign	rs149453540	RCV000861074\|RCV001712798;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19751843	19751843	C	T	22:g.19751843C>T	-
NM_001379200.1(TBX1):c.706G>A (p.Gly236Ser)	6899	TBX1	Uncertain significance	-1	RCV001993014;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751844	19751844	G	A	19751844	-
NM_001379200.1(TBX1):c.711C>T (p.His237=)	6899	TBX1	Uncertain significance	rs200021644	RCV000618363\|RCV001062273;	N	MedGen:CN230736\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751849	19751849	C	T	NC_000022.10:g.19751849C>T	ClinGen:CA10102527	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.711+1G>A	6899	TBX1	Likely pathogenic	-1	RCV002000474;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751850	19751850	G	A	19751850	-
NM_001379200.1(TBX1):c.711+3G>A	6899	TBX1	Uncertain significance	-1	RCV001930671;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751852	19751852	G	A	19751852	-
NM_001379200.1(TBX1):c.711+7G>A	6899	TBX1	Likely benign	-1	RCV001495325;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19751856	19751856	G	A	19751856	-
NM_001379200.1(TBX1):c.740A>G (p.Gln247Arg)	6899	TBX1	Uncertain significance	-1	RCV001890596;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19752509	19752509	A	G	19752509	-
NM_001379200.1(TBX1):c.768C>T (p.Asp256=)	6899	TBX1	Likely benign	-1	RCV002092393;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19752537	19752537	C	T	19752537	-
NM_001379200.1(TBX1):c.780T>C (p.Asp260=)	6899	TBX1	Likely benign	-1	RCV002194481;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19752549	19752549	T	C	19752549	-
NM_001379200.1(TBX1):c.784G>C (p.Glu262Gln)	6899	TBX1	Uncertain significance	rs553807294	RCV001313205;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19752553	19752553	G	C	19752553	-
NM_001379200.1(TBX1):c.794_798dup (p.Glu267fs)	6899	TBX1	Pathogenic	-1	RCV001908785;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19752561	19752562	T	TGCCGA	19752561	-
NM_001379200.1(TBX1):c.813C>T (p.Thr271=)	6899	TBX1	Likely benign	-1	RCV002159767;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19752582	19752582	C	T	19752582	-
NM_001379200.1(TBX1):c.822C>T (p.Phe274=)	6899	TBX1	Likely benign	-1	RCV002188429;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19752591	19752591	C	T	19752591	-
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys)	6899	TBX1	Conflicting interpretations of pathogenicity	rs144848597	RCV001202887\|RCV001570784\|RCV002069302;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001636,MONDO:MONDO:0008542,MedGen:C0039685,OMIM:187500, Orphanet:3303; MONDO:MONDO:0016581,MedGen:C1857586,OMIM:217095, Orphanet:2445, Orphanet:3384,Or	22	19752592	19752592	G	A	22:g.19752592G>A	-
NM_001379200.1(TBX1):c.831A>T (p.Thr277=)	6899	TBX1	Likely benign	-1	RCV001488370;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19752600	19752600	A	T	19752600	-
NM_001379200.1(TBX1):c.840C>T (p.Thr280=)	6899	TBX1	Benign/Likely benign	rs61730282	RCV000535518\|RCV001080365;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19752609	19752609	C	T	22:g.19752609C>T	ClinGen:CA10102567	C0012236 188400 DiGeorge sequence;
NM_001379200.1(TBX1):c.848C>G (p.Thr283Ser)	6899	TBX1	Uncertain significance	-1	RCV002039341;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19752617	19752617	C	G	19752617	-
NM_001379200.1(TBX1):c.867+11G>A	6899	TBX1	Likely benign	-1	RCV002193504;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19752647	19752647	G	A	19752647	-
NM_001379200.1(TBX1):c.868-20T>G	6899	TBX1	Likely benign	-1	RCV002207753;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753261	19753261	T	G	19753261	-
NM_001379200.1(TBX1):c.868-19C>T	6899	TBX1	Likely benign	-1	RCV002148417;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753262	19753262	C	T	19753262	-
NM_001379200.1(TBX1):c.868-11C>T	6899	TBX1	Likely benign	-1	RCV002136298;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753270	19753270	C	T	19753270	-
NM_001379200.1(TBX1):c.881del (p.Lys294fs)	6899	TBX1	Pathogenic	-1	RCV001944034;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753293	19753293	CA	C	19753292	-
NM_001379200.1(TBX1):c.913C>A (p.Arg305=)	6899	TBX1	Conflicting interpretations of pathogenicity	rs751339103	RCV000515043\|RCV002060206;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753326	19753326	C	A	22:g.19753326C>A	ClinGen:CA10102609	CN517202 not provided;
NM_001379200.1(TBX1):c.915G>C (p.Arg305=)	6899	TBX1	Likely benign	-1	RCV001445723;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753328	19753328	G	C	19753328	-
NM_001379200.1(TBX1):c.922G>C (p.Asp308His)	6899	TBX1	Uncertain significance	rs750330152	RCV001227081;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753335	19753335	G	C	22:g.19753335G>C	-
NM_001379200.1(TBX1):c.925C>A (p.Pro309Thr)	6899	TBX1	Uncertain significance	rs1936813859	RCV001326134;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753338	19753338	C	A	19753338	-
NM_001379200.1(TBX1):c.930G>A (p.Glu310=)	6899	TBX1	Uncertain significance	-1	RCV001967419;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753343	19753343	G	A	19753343	-
NM_001379200.1(TBX1):c.935+13C>T	6899	TBX1	Likely benign	-1	RCV002103633;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753361	19753361	C	T	19753361	-
NM_001379200.1(TBX1):c.935+16C>A	6899	TBX1	Uncertain significance	-1	RCV001879098;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753364	19753364	C	A	19753364	-
NM_001379200.1(TBX1):c.935+17GA[2]	6899	TBX1	Uncertain significance	-1	RCV002027258;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753365	19753366	CGA	C	19753364	-
NM_001379200.1(TBX1):c.936-11C>A	6899	TBX1	Likely benign	-1	RCV001596491\|RCV002070471;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753414	19753414	C	A	19753414	-
NM_001379200.1(TBX1):c.936-9del	6899	TBX1	Benign	-1	RCV002084682;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753414	19753414	TC	T	19753413	-
NM_001379200.1(TBX1):c.936-8G>T	6899	TBX1	Likely benign	rs753380966	RCV000875355;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753417	19753417	G	T	22:g.19753417G>T	-
NM_001379200.1(TBX1):c.936-8G>A	6899	TBX1	Likely benign	-1	RCV002089724;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753417	19753417	G	A	19753417	-
NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln)	6899	TBX1	Likely benign	-1	RCV001442626;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753430	19753430	G	A	19753430	-
NM_001379200.1(TBX1):c.954C>T (p.Pro318=)	6899	TBX1	Benign/Likely benign	rs201607803	RCV000618199\|RCV000877082\|RCV001551812;	N	MedGen:CN230736\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19753443	19753443	C	T	NC_000022.10:g.19753443C>T	ClinGen:CA10102639	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser)	6899	TBX1	Benign	rs41298838	RCV000008000\|RCV000618981\|RCV000828677;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN230736\|MedGen:CN517202	22	19753444	19753444	G	A	22:g.19753444G>A	ClinGen:CA254215,UniProtKB:O43435#VAR_034545,OMIM:602054.0002	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.955G>T (p.Gly319Cys)	6899	TBX1	Uncertain significance	rs41298838	RCV000534155;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753444	19753444	G	T	22:g.19753444G>T	ClinGen:CA410683778	C0012236 188400 DiGeorge sequence;
NM_001379200.1(TBX1):c.960A>G (p.Ala320=)	6899	TBX1	Benign	rs41298840	RCV000248275\|RCV000593555\|RCV000713782\|RCV001520750;	N	MedGen:CN230736\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753449	19753449	A	G	22:g.19753449A>G	ClinGen:CA10102642	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.961C>T (p.Leu321=)	6899	TBX1	Likely benign	rs745951558	RCV000946118\|RCV001395749;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753450	19753450	C	T	22:g.19753450C>T	-
NM_001379200.1(TBX1):c.974G>C (p.Ser325Thr)	6899	TBX1	Uncertain significance	-1	RCV002035872;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753463	19753463	G	C	19753463	-
NM_001379200.1(TBX1):c.978C>T (p.Ala326=)	6899	TBX1	Likely benign	-1	RCV002113569;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753467	19753467	C	T	19753467	-
NM_001379200.1(TBX1):c.985C>T (p.Arg329Cys)	6899	TBX1	Uncertain significance	-1	RCV002019264;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753474	19753474	C	T	19753474	-
NM_001379200.1(TBX1):c.986G>C (p.Arg329Pro)	6899	TBX1	Uncertain significance	-1	RCV001904031;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753475	19753475	G	C	19753475	-
NM_001379200.1(TBX1):c.1003G>T (p.Ala335Ser)	6899	TBX1	Uncertain significance	-1	RCV002021642;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753492	19753492	G	T	19753492	-
NM_001379200.1(TBX1):c.1008C>G (p.Ser336=)	6899	TBX1	Likely benign	-1	RCV001459952;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753497	19753497	C	G	19753497	-
NM_001379200.1(TBX1):c.1010C>T (p.Pro337Leu)	6899	TBX1	Uncertain significance	-1	RCV001362215;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753499	19753499	C	T	19753499	-
NM_001379200.1(TBX1):c.1023C>T (p.Ser341=)	6899	TBX1	Likely benign	-1	RCV001423990;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753512	19753512	C	T	19753512	-
NM_001379200.1(TBX1):c.1024G>T (p.Gly342Cys)	6899	TBX1	Uncertain significance	rs1294861011	RCV001237604;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753513	19753513	G	T	22:g.19753513G>T	-
NM_001379200.1(TBX1):c.1025G>A (p.Gly342Asp)	6899	TBX1	Uncertain significance	-1	RCV002022846;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753514	19753514	G	A	19753514	-
NM_001379200.1(TBX1):c.1026C>A (p.Gly342=)	6899	TBX1	Likely benign	-1	RCV001391862;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753515	19753515	C	A	19753515	-
NM_001379200.1(TBX1):c.1036+4G>T	6899	TBX1	Uncertain significance	-1	RCV001988590;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753529	19753529	G	T	19753529	-
NM_001379200.1(TBX1):c.1036+17G>A	6899	TBX1	Likely benign	-1	RCV002103817;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753542	19753542	G	A	19753542	-
NM_001379200.1(TBX1):c.1036+18G>C	6899	TBX1	Likely benign	-1	RCV002130221;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753543	19753543	G	C	19753543	-
NM_001379200.1(TBX1):c.1037-18C>T	6899	TBX1	Likely benign	-1	RCV001939615;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753894	19753894	C	T	19753894	-
NM_001379200.1(TBX1):c.1037-15C>T	6899	TBX1	Likely benign	-1	RCV001552199\|RCV002072050;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753897	19753897	C	T	19753897	-
NM_001379200.1(TBX1):c.1037-7_1037-6del	6899	TBX1	Uncertain significance	rs1037168604	RCV000993258\|RCV001210492;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753902	19753903	CCT	C	22:g.19753902_19753903del	-
NM_001379200.1(TBX1):c.1037-10C>T	6899	TBX1	Likely benign	-1	RCV001493897;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753902	19753902	C	T	19753902	-
NM_001379200.1(TBX1):c.1037-1G>A	6899	TBX1	Uncertain significance	rs1936844527	RCV001210656;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753911	19753911	G	A	22:g.19753911G>A	-
NM_001379200.1(TBX1):c.1041G>T (p.Ala347=)	6899	TBX1	Likely benign	-1	RCV002168023;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753916	19753916	G	T	19753916	-
NM_001379200.1(TBX1):c.1046A>T (p.Glu349Val)	6899	TBX1	Uncertain significance	rs751917634	RCV000693822;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753921	19753921	A	T	22:g.19753921A>T	-	C0012236 188400 DiGeorge sequence;
NM_001379200.1(TBX1):c.1052G>A (p.Arg351Gln)	6899	TBX1	Benign/Likely benign	rs549715785	RCV000619076\|RCV001514355\|RCV001558761;	N	MedGen:CN230736\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19753927	19753927	G	A	22:g.19753927G>A	ClinGen:CA10102659	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.1063C>T (p.Gln355Ter)	6899	TBX1	Pathogenic	-1	RCV001992593;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753938	19753938	C	T	19753938	-
NM_001379200.1(TBX1):c.1066C>A (p.Arg356Ser)	6899	TBX1	Uncertain significance	rs1046395605	RCV001229638;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753941	19753941	C	A	22:g.19753941C>A	-
NM_001379200.1(TBX1):c.1069G>T (p.Asp357Tyr)	6899	TBX1	Uncertain significance	rs1407996016	RCV001309123;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753944	19753944	G	T	19753944	-
NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly)	6899	TBX1	Uncertain significance	rs1452987245	RCV001281027;	N	MONDO:MONDO:0016581,MedGen:C1857586,OMIM:217095, Orphanet:2445, Orphanet:3384, Orphanet:3426; MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567; MONDO:MONDO:0008644,MedGen:C0220704,OMIM:192430, Orphanet:567; Human Phenotype Ontology:HP:0001636,MONDO	22	19753948	19753948	C	G	22:g.19753948C>G	-
NM_001379200.1(TBX1):c.1076G>T (p.Gly359Val)	6899	TBX1	Uncertain significance	-1	RCV002016260;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753951	19753951	G	T	19753951	-
NM_001379200.1(TBX1):c.1077C>T (p.Gly359=)	6899	TBX1	Uncertain significance	rs1443686047	RCV001217085;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753952	19753952	C	T	22:g.19753952C>T	-
NM_001379200.1(TBX1):c.1082C>T (p.Pro361Leu)	6899	TBX1	Uncertain significance	rs1001921296	RCV000695042\|RCV001756199;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19753957	19753957	C	T	NC_000022.10:g.19753957C>T	-	C0012236 188400 DiGeorge sequence;
NM_001379200.1(TBX1):c.1085C>T (p.Ala362Val)	6899	TBX1	Uncertain significance	rs569581176	RCV001054550;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753960	19753960	C	T	22:g.19753960C>T	-
NM_001379200.1(TBX1):c.1085C>G (p.Ala362Gly)	6899	TBX1	Uncertain significance	-1	RCV001948725;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753960	19753960	C	G	19753960	-
NM_001379200.1(TBX1):c.1086A>G (p.Ala362=)	6899	TBX1	Benign	rs13054377	RCV000249855\|RCV001515129\|RCV001618491\|RCV001700022;	N	MedGen:CN230736\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202\|MedGen:CN169374	22	19753961	19753961	A	G	NC_000022.10:g.19753961A>G	ClinGen:CA10102661	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.1090C>T (p.Leu364Phe)	6899	TBX1	Uncertain significance	-1	RCV002023353;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753965	19753965	C	T	19753965	-
NM_001379200.1(TBX1):c.1096del (p.Asp366fs)	6899	TBX1	Pathogenic	-1	RCV001386759;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753968	19753968	CG	C	19753967	-
NM_001379200.1(TBX1):c.1099C>G (p.Pro367Ala)	6899	TBX1	Uncertain significance	-1	RCV001976700;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753974	19753974	C	G	19753974	-
NM_001379200.1(TBX1):c.1101G>A (p.Pro367=)	6899	TBX1	Likely benign	-1	RCV001413486;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753976	19753976	G	A	19753976	-
NM_001379200.1(TBX1):c.1103C>A (p.Ala368Glu)	6899	TBX1	Uncertain significance	rs1157536437	RCV000794255;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753978	19753978	C	A	22:g.19753978C>A	-
NM_001379200.1(TBX1):c.1105C>T (p.His369Tyr)	6899	TBX1	Uncertain significance	rs1936848458	RCV001297187;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753980	19753980	C	T	19753980	-
NM_001379200.1(TBX1):c.1117del (p.Leu373fs)	6899	TBX1	Pathogenic	-1	RCV001383639;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19753992	19753992	GC	G	19753991	-
NM_001379200.1(TBX1):c.1125C>T (p.Ala375=)	6899	TBX1	Likely benign	-1	RCV002113744;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754000	19754000	C	T	19754000	-
NM_001379200.1(TBX1):c.1127G>A (p.Arg376Gln)	6899	TBX1	Uncertain significance	-1	RCV001362817;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754002	19754002	G	A	19754002	-
NM_001379200.1(TBX1):c.1135A>G (p.Ser379Gly)	6899	TBX1	Uncertain significance	-1	RCV001367053;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754010	19754010	A	G	19754010	-
NM_001379200.1(TBX1):c.1138C>T (p.Pro380Ser)	6899	TBX1	Uncertain significance	-1	RCV002019282;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754013	19754013	C	T	19754013	-
NM_001379200.1(TBX1):c.1142C>T (p.Ser381Leu)	6899	TBX1	Uncertain significance	rs1936850184	RCV001235789;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754017	19754017	C	T	22:g.19754017C>T	-
NM_001379200.1(TBX1):c.1145T>C (p.Leu382Pro)	6899	TBX1	Uncertain significance	-1	RCV002034308;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754020	19754020	T	C	19754020	-
NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Gly384_Ala385insArgAlaGly)	6899	TBX1	Uncertain significance	rs1192078635	RCV001064912;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754023	19754024	C	CCAGGGCCGG	22:g.19754023_19754024insCAGGGCCGG	-
NM_001379200.1(TBX1):c.1148C>A (p.Pro383His)	6899	TBX1	Uncertain significance	-1	RCV001962276;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754023	19754023	C	A	19754023	-
NM_001379200.1(TBX1):c.1150_1152delinsAGGGCCGGCGGC (p.Gly384_Ala385insArgAlaGly)	6899	TBX1	Uncertain significance	rs1555896709	RCV000621456\|RCV000798611;	N	MedGen:CN230736\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754025	19754027	GGG	AGGGCCGGCGGC	NC_000022.10:g.19754025_19754027delinsAGGGCCGGCGGC	ClinGen:CA658799489	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.1153GCCGGCGGC[3] (p.385AGG[3])	6899	TBX1	Likely benign	rs1288296547	RCV000878950;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754027	19754028	G	GGCCGGCGGC	22:g.19754027_19754028insGCCGGCGGC	-
NM_001379200.1(TBX1):c.1152G>C (p.Gly384=)	6899	TBX1	Likely benign	-1	RCV001484200;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754027	19754027	G	C	19754027	-
NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1])	6899	TBX1	Uncertain significance	-1	RCV001370493;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754028	19754036	GGCCGGCGGC	G	19754027	-
NM_001379200.1(TBX1):c.1159G>A (p.Gly387Ser)	6899	TBX1	Conflicting interpretations of pathogenicity	rs565927787	RCV000621315\|RCV000877083\|RCV001584433;	N	MedGen:CN230736\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19754034	19754034	G	A	22:g.19754034G>A	ClinGen:CA10102662	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.1160G>A (p.Gly387Asp)	6899	TBX1	Uncertain significance	-1	RCV002021186;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754035	19754035	G	A	19754035	-
NM_001379200.1(TBX1):c.1161C>T (p.Gly387=)	6899	TBX1	Likely benign	rs941116789	RCV000630484;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754036	19754036	C	T	22:g.19754036C>T	ClinGen:CA322058189	C0012236 188400 DiGeorge sequence;
NM_001379200.1(TBX1):c.1167C>A (p.Gly389=)	6899	TBX1	Likely benign	-1	RCV002202438;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754042	19754042	C	A	19754042	-
NM_001379200.1(TBX1):c.1168G>C (p.Gly390Arg)	6899	TBX1	Uncertain significance	rs1408610906	RCV001314054;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754043	19754043	G	C	19754043	-
NM_001379200.1(TBX1):c.1170C>T (p.Gly390=)	6899	TBX1	Likely benign	-1	RCV002112303;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754045	19754045	C	T	19754045	-
NM_001379200.1(TBX1):c.1177C>T (p.Pro393Ser)	6899	TBX1	Uncertain significance	rs1936852709	RCV001217144;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754052	19754052	C	T	22:g.19754052C>T	-
NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln)	6899	TBX1	Likely benign	rs918788695	RCV000983966;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754053	19754053	C	A	22:g.19754053C>A	-
NM_001379200.1(TBX1):c.1179_1180insAG (p.Leu394fs)	6899	TBX1	Pathogenic	rs1936852915	RCV001332793;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754053	19754054	C	CGA	19754053	-
NM_001379200.1(TBX1):c.1186G>C (p.Gly396Arg)	6899	TBX1	Uncertain significance	-1	RCV001976372;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754061	19754061	G	C	19754061	-
NM_001379200.1(TBX1):c.1188C>T (p.Gly396=)	6899	TBX1	Uncertain significance	-1	RCV002050564;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754063	19754063	C	T	19754063	-
NM_001379200.1(TBX1):c.1189G>A (p.Ala397Thr)	6899	TBX1	Uncertain significance	-1	RCV001874860;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754064	19754064	G	A	19754064	-
NM_001379200.1(TBX1):c.1195G>A (p.Gly399Arg)	6899	TBX1	Uncertain significance	rs1196576937	RCV001045103;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754070	19754070	G	A	22:g.19754070G>A	-
NM_001379200.1(TBX1):c.1196G>A (p.Gly399Glu)	6899	TBX1	Uncertain significance	rs1274082696	RCV000685242;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754071	19754071	G	A	22:g.19754071G>A	-	C0012236 188400 DiGeorge sequence;
NM_001379200.1(TBX1):c.1196G>C (p.Gly399Ala)	6899	TBX1	Uncertain significance	-1	RCV002041981;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754071	19754071	G	C	19754071	-
NM_001379200.1(TBX1):c.1198G>C (p.Gly400Arg)	6899	TBX1	Uncertain significance	-1	RCV001890122;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754073	19754073	G	C	19754073	-
NM_001379200.1(TBX1):c.1199G>C (p.Gly400Ala)	6899	TBX1	Uncertain significance	-1	RCV001372947;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754074	19754074	G	C	19754074	-
NM_001379200.1(TBX1):c.1202G>A (p.Arg401Gln)	6899	TBX1	Uncertain significance	-1	RCV001988416;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754077	19754077	G	A	19754077	-
NM_001379200.1(TBX1):c.1204C>T (p.Pro402Ser)	6899	TBX1	Uncertain significance	-1	RCV001937316;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754079	19754079	C	T	19754079	-
NM_001379200.1(TBX1):c.1205C>G (p.Pro402Arg)	6899	TBX1	Uncertain significance	rs1936854828	RCV001226054;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754080	19754080	C	G	22:g.19754080C>G	-
NM_001379200.1(TBX1):c.1208G>A (p.Ser403Asn)	6899	TBX1	Uncertain significance	-1	RCV002048126;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754083	19754083	G	A	19754083	-
NM_001379200.1(TBX1):c.1212C>T (p.Pro404=)	6899	TBX1	Likely benign	-1	RCV002118483;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754087	19754087	C	T	19754087	-
NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu)	6899	TBX1	Uncertain significance	rs746812421	RCV000990374\|RCV001819695;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN169374	22	19754089	19754089	C	T	22:g.19754089C>T	-
NM_001379200.1(TBX1):c.1214C>A (p.Pro405Gln)	6899	TBX1	Likely benign	-1	RCV001409472;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754089	19754089	C	A	19754089	-
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His)	6899	TBX1	Benign	rs72646967	RCV000245695\|RCV000598010\|RCV000713776\|RCV001520751;	N	MedGen:CN230736\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754091	19754091	A	C	NC_000022.10:g.19754091A>C	ClinGen:CA10102670	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.1217A>G (p.Asn406Ser)	6899	TBX1	Uncertain significance	rs1936855908	RCV001346410;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754092	19754092	A	G	19754092	-
NM_001379200.1(TBX1):c.1221C>T (p.Pro407=)	6899	TBX1	Likely benign	rs1305509653	RCV000875923;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754096	19754096	C	T	22:g.19754096C>T	-
NM_001379200.1(TBX1):c.1221C>A (p.Pro407=)	6899	TBX1	Uncertain significance	-1	RCV001361055;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754096	19754096	C	A	19754096	-
NM_001379200.1(TBX1):c.1231C>T (p.Leu411=)	6899	TBX1	Likely benign	-1	RCV002109503;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754106	19754106	C	T	19754106	-
NM_001379200.1(TBX1):c.1238C>G (p.Ala413Gly)	6899	TBX1	Benign/Likely benign	rs557935727	RCV000874653\|RCV001557378;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19754113	19754113	C	G	22:g.19754113C>G	-
NM_001379200.1(TBX1):c.1239G>A (p.Ala413=)	6899	TBX1	Likely benign	-1	RCV002123130;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754114	19754114	G	A	19754114	-
NM_001379200.1(TBX1):c.1240C>T (p.Pro414Ser)	6899	TBX1	Conflicting interpretations of pathogenicity	rs757648761	RCV000900570\|RCV001487091;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754115	19754115	C	T	22:g.19754115C>T	-
NM_001379200.1(TBX1):c.1242C>T (p.Pro414=)	6899	TBX1	Benign	rs200135498	RCV000860983;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754117	19754117	C	T	22:g.19754117C>T	-
NM_001379200.1(TBX1):c.1242C>G (p.Pro414=)	6899	TBX1	Likely benign	-1	RCV001479529;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754117	19754117	C	G	19754117	-
NM_001379200.1(TBX1):c.1244G>A (p.Gly415Asp)	6899	TBX1	Benign/Likely benign	rs756543718	RCV000543847\|RCV001445700\|RCV001662533;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN169374	22	19754119	19754119	G	A	22:g.19754119G>A	ClinGen:CA10102679	C0012236 188400 DiGeorge sequence;
NM_001379200.1(TBX1):c.1245C>T (p.Gly415=)	6899	TBX1	Likely benign	rs780344405	RCV000558528\|RCV001432298;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754120	19754120	C	T	22:g.19754120C>T	ClinGen:CA10102680	C0012236 188400 DiGeorge sequence;
NM_001379200.1(TBX1):c.1248A>G (p.Ala416=)	6899	TBX1	Likely benign	-1	RCV001441792;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754123	19754123	A	G	19754123	-
NM_001379200.1(TBX1):c.1250C>T (p.Ser417Leu)	6899	TBX1	Uncertain significance	-1	RCV001973634;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754125	19754125	C	T	19754125	-
NM_001379200.1(TBX1):c.1251G>A (p.Ser417=)	6899	TBX1	Likely benign	-1	RCV001481845;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754126	19754126	G	A	19754126	-
NM_001379200.1(TBX1):c.1251G>C (p.Ser417=)	6899	TBX1	Likely benign	-1	RCV002164616;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754126	19754126	G	C	19754126	-
NM_001379200.1(TBX1):c.1252G>C (p.Glu418Gln)	6899	TBX1	Uncertain significance	rs776268518	RCV001057736;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754127	19754127	G	C	22:g.19754127G>C	-
NM_001379200.1(TBX1):c.1253A>G (p.Glu418Gly)	6899	TBX1	Conflicting interpretations of pathogenicity	rs745858331	RCV000983828\|RCV001400138;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754128	19754128	A	G	22:g.19754128A>G	-
NM_001379200.1(TBX1):c.1261C>A (p.His421Asn)	6899	TBX1	Uncertain significance	rs985907694	RCV000700934;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754136	19754136	C	A	22:g.19754136C>A	-	C0012236 188400 DiGeorge sequence;
NM_001379200.1(TBX1):c.1269C>T (p.His423=)	6899	TBX1	Likely benign	-1	RCV001478139;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754144	19754144	C	T	19754144	-
NM_001379200.1(TBX1):c.1271C>G (p.Pro424Arg)	6899	TBX1	Uncertain significance	rs767961877	RCV001343750;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754146	19754146	C	G	19754146	-
NM_001379200.1(TBX1):c.1273T>C (p.Tyr425His)	6899	TBX1	Uncertain significance	rs1243986502	RCV001346718;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754148	19754148	T	C	19754148	-
NM_001379200.1(TBX1):c.1275C>T (p.Tyr425=)	6899	TBX1	Likely benign	-1	RCV001422643;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754150	19754150	C	T	19754150	-
NM_001379200.1(TBX1):c.1280A>T (p.Tyr427Phe)	6899	TBX1	Uncertain significance	rs1601294456	RCV000815029;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754155	19754155	A	T	22:g.19754155A>T	-
NM_001379200.1(TBX1):c.1286C>T (p.Ala429Val)	6899	TBX1	Uncertain significance	-1	RCV002043829;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754161	19754161	C	T	19754161	-
NM_001379200.1(TBX1):c.1295A>G (p.Tyr432Cys)	6899	TBX1	Uncertain significance	rs1163307521	RCV001220294;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754170	19754170	A	G	22:g.19754170A>G	-
NM_001379200.1(TBX1):c.1297G>A (p.Asp433Asn)	6899	TBX1	Uncertain significance	rs758517884	RCV001301760;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754172	19754172	G	A	19754172	-
NM_001379200.1(TBX1):c.1297G>T (p.Asp433Tyr)	6899	TBX1	Uncertain significance	rs758517884	RCV001302949;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754172	19754172	G	T	19754172	-
NM_001379200.1(TBX1):c.1302_1304del (p.Tyr435del)	6899	TBX1	Uncertain significance	rs1936861633	RCV001044339;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754176	19754178	CACT	C	22:g.19754176_19754178del	-
NM_001379200.1(TBX1):c.1304A>G (p.Tyr435Cys)	6899	TBX1	Uncertain significance	rs1386894564	RCV001347685;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754179	19754179	A	G	19754179	-
NM_001379200.1(TBX1):c.1314C>T (p.Ala438=)	6899	TBX1	Benign	rs574947516	RCV000877210\|RCV001638013;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19754189	19754189	C	T	22:g.19754189C>T	-
NM_001379200.1(TBX1):c.1320C>G (p.Ser440Arg)	6899	TBX1	Uncertain significance	-1	RCV001985110;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754195	19754195	C	G	19754195	-
NM_001379200.1(TBX1):c.1323G>A (p.Arg441=)	6899	TBX1	Likely benign	rs1228904807	RCV000960211;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754198	19754198	G	A	22:g.19754198G>A	-
NM_001379200.1(TBX1):c.1329G>A (p.Ala443=)	6899	TBX1	Likely benign	rs772860144	RCV000876353\|RCV001503130;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754204	19754204	G	A	22:g.19754204G>A	-
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser)	6899	TBX1	Conflicting interpretations of pathogenicity	rs201993443	RCV000993259\|RCV001058764\|RCV001281435;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype Ontology:HP:0002	22	19754211	19754211	C	T	22:g.19754211C>T	-
NM_001379200.1(TBX1):c.1345G>A (p.Gly449Ser)	6899	TBX1	Uncertain significance	rs777873225	RCV001337281;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754220	19754220	G	A	19754220	-
NM_001379200.1(TBX1):c.1345G>C (p.Gly449Arg)	6899	TBX1	Uncertain significance	-1	RCV001872696;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754220	19754220	G	C	19754220	-
NM_001379200.1(TBX1):c.1346G>A (p.Gly449Asp)	6899	TBX1	Uncertain significance	-1	RCV001938641;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754221	19754221	G	A	19754221	-
NM_001379200.1(TBX1):c.1348C>G (p.Leu450Val)	6899	TBX1	Uncertain significance	-1	RCV001373582;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754223	19754223	C	G	19754223	-
NM_001379200.1(TBX1):c.1352G>C (p.Arg451Pro)	6899	TBX1	Conflicting interpretations of pathogenicity	rs755937050	RCV000620652\|RCV000876591\|RCV001821753;	N	MedGen:CN230736\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN169374	22	19754227	19754227	G	C	22:g.19754227G>C	ClinGen:CA10102722	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.1359C>T (p.His453=)	6899	TBX1	Likely benign	-1	RCV001468016;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754234	19754234	C	T	19754234	-
NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup)	6899	TBX1	Conflicting interpretations of pathogenicity	rs774578030	RCV000861446\|RCV001786419;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19754240	19754241	C	CCACCCGCACGCG	22:g.19754240_19754241insCACCCGCACGCG	-
NM_001379200.1(TBX1):c.1368C>A (p.His456Gln)	6899	TBX1	Uncertain significance	rs1601294758	RCV000795550;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754243	19754243	C	A	22:g.19754243C>A	-
NM_001379200.1(TBX1):c.1371G>A (p.Pro457=)	6899	TBX1	Likely benign	-1	RCV002194617;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754246	19754246	G	A	19754246	-
NM_001379200.1(TBX1):c.1374C>G (p.His458Gln)	6899	TBX1	Uncertain significance	rs747623105	RCV001315139;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754249	19754249	C	G	19754249	-
NM_001379200.1(TBX1):c.1376C>T (p.Ala459Val)	6899	TBX1	Uncertain significance	-1	RCV002008145;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754251	19754251	C	T	19754251	-
NM_001379200.1(TBX1):c.1377G>C (p.Ala459=)	6899	TBX1	Likely benign	rs771540171	RCV000920355\|RCV001463999;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754252	19754252	G	C	22:g.19754252G>C	-
NM_001379200.1(TBX1):c.1377G>T (p.Ala459=)	6899	TBX1	Likely benign	-1	RCV001483994;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754252	19754252	G	T	19754252	-
NM_001379200.1(TBX1):c.1379A>T (p.His460Leu)	6899	TBX1	Uncertain significance	-1	RCV001965107;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754254	19754254	A	T	19754254	-
NM_001379200.1(TBX1):c.1380T>C (p.His460=)	6899	TBX1	Benign/Likely benign	rs367711718	RCV000618894\|RCV000713777\|RCV001080661;	N	MedGen:CN230736\|MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754255	19754255	T	C	NC_000022.10:g.19754255T>C	ClinGen:CA10102730	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.1380T>G (p.His460Gln)	6899	TBX1	Uncertain significance	rs367711718	RCV001228940;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754255	19754255	T	G	22:g.19754255T>G	-
NM_001379200.1(TBX1):c.1382C>T (p.Pro461Leu)	6899	TBX1	Uncertain significance	-1	RCV001369876;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754257	19754257	C	T	19754257	-
NM_001379200.1(TBX1):c.1385ACC[4] (p.His466del)	6899	TBX1	Uncertain significance	-1	RCV001369334;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754259	19754261	GCAC	G	19754258	-
NM_001379200.1(TBX1):c.1385ACC[3] (p.His465_His466del)	6899	TBX1	Uncertain significance	-1	RCV002004035;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754259	19754264	GCACCAC	G	19754258	-
NM_001379200.1(TBX1):c.1386C>A (p.His462Gln)	6899	TBX1	Uncertain significance	-1	RCV002031699;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754261	19754261	C	A	19754261	-
NM_001379200.1(TBX1):c.1392C>T (p.His464=)	6899	TBX1	Likely benign	-1	RCV001566859\|RCV002072176;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754267	19754267	C	T	19754267	-
NM_001379200.1(TBX1):c.1393C>G (p.His465Asp)	6899	TBX1	Uncertain significance	-1	RCV002008900;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754268	19754268	C	G	19754268	-
NM_001379200.1(TBX1):c.1399C>A (p.Pro467Thr)	6899	TBX1	Uncertain significance	-1	RCV002003608;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754274	19754274	C	A	19754274	-
NM_001379200.1(TBX1):c.1400C>T (p.Pro467Leu)	6899	TBX1	Uncertain significance	-1	RCV001925314;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754275	19754275	C	T	19754275	-
NM_001379200.1(TBX1):c.1401C>T (p.Pro467=)	6899	TBX1	Likely benign	-1	RCV001417801;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754276	19754276	C	T	19754276	-
NM_001379200.1(TBX1):c.1402G>T (p.Val468Leu)	6899	TBX1	Likely benign	rs764197422	RCV001034021;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754277	19754277	G	T	22:g.19754277G>T	-
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu)	6899	TBX1	Conflicting interpretations of pathogenicity	rs764197422	RCV001050953\|RCV001836938;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19754277	19754277	G	C	22:g.19754277G>C	-
NM_001379200.1(TBX1):c.1408_1446del (p.Pro470_Ala482del)	6899	TBX1	Uncertain significance	rs1238730283	RCV001037137;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754283	19754321	TCCAGCCGCCGCGGCCGCCGCCGCCGCTGCCGCAGCTGCC	T	22:g.19754283_19754321del	-
NM_001379200.1(TBX1):c.1410_1448del (p.Ala473_Ala485del)	6899	TBX1	Conflicting interpretations of pathogenicity	rs764911027	RCV001034437\|RCV001655667;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19754284	19754322	CCAGCCGCCGCGGCCGCCGCCGCCGCTGCCGCAGCTGCCG	C	22:g.19754284_19754322del	-
NM_001379200.1(TBX1):c.1413_1442del (p.Ala476_Ala485del)	6899	TBX1	Benign/Likely benign	-1	RCV001520005\|RCV001548645;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19754284	19754313	CCAGCCGCCGCGGCCGCCGCCGCCGCTGCCG	C	19754283	-
NM_001379200.1(TBX1):c.1419_1427del (p.Ala483_Ala485del)	6899	TBX1	Likely benign	rs777514486	RCV000861483\|RCV001545892;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567\|MedGen:CN517202	22	19754286	19754294	AGCCGCCGCG	A	22:g.19754286_19754294del	-
NM_001379200.1(TBX1):c.1419_1430del (p.Ala482_Ala485del)	6899	TBX1	Uncertain significance	rs751264690	RCV001061023;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754286	19754297	AGCCGCCGCGGCC	A	22:g.19754286_19754297del	-
NM_001379200.1(TBX1):c.1419_1433del (p.Ala481_Ala485del)	6899	TBX1	Uncertain significance	rs780815537	RCV001205234;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754286	19754300	AGCCGCCGCGGCCGCC	A	22:g.19754286_19754300del	-
NM_001379200.1(TBX1):c.1419_1424dup (p.Ala484_Ala485dup)	6899	TBX1	Uncertain significance	-1	RCV001935427;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754288	19754289	C	CGCCGCG	19754288	-
NM_001379200.1(TBX1):c.1426_1455del (p.Ala476_Ala485del)	6899	TBX1	Uncertain significance	rs746335599	RCV000620329\|RCV001215829;	N	MedGen:CN230736\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754289	19754318	CGCCGCGGCCGCCGCCGCCGCTGCCGCAGCT	C	22:g.19754289_19754318del	ClinGen:CA10102750	CN230736 Cardiovascular phenotype;
NM_001379200.1(TBX1):c.1422CGC[5] (p.Ala485dup)	6899	TBX1	Uncertain significance	-1	RCV002016516;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754294	19754295	G	GGCC	19754294	-
NM_001379200.1(TBX1):c.1424C>T (p.Ala475Val)	6899	TBX1	Benign/Likely benign	rs753613632	RCV000497785\|RCV001084246;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754299	19754299	C	T	22:g.19754299C>T	ClinGen:CA10102758	C0012236 188400 DiGeorge sequence;
NM_001379200.1(TBX1):c.1425C>T (p.Ala475=)	6899	TBX1	Likely benign	-1	RCV001488850;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754300	19754300	C	T	19754300	-
NM_001379200.1(TBX1):c.1431_1439del (p.Ala483_Ala485del)	6899	TBX1	Conflicting interpretations of pathogenicity	rs774489872	RCV000598582\|RCV002062109;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754301	19754309	CGCCGCCGCT	C	NC_000022.10:g.19754306_19754314del	ClinGen:CA10102759	CN169374 not specified;
NM_001379200.1(TBX1):c.1440_1448dup (p.Ala483_Ala485dup)	6899	TBX1	Uncertain significance	rs748434309	RCV001219878;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754306	19754307	C	CGCTGCCGCA	22:g.19754306_19754307insGCTGCCGCA	-
NM_001379200.1(TBX1):c.1440_1448del (p.Ala483_Ala485del)	6899	TBX1	Likely benign	-1	RCV002099333;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754307	19754315	CGCTGCCGCA	C	19754306	-
NM_001379200.1(TBX1):c.1433C>T (p.Ala478Val)	6899	TBX1	Uncertain significance	rs757867291	RCV000482540\|RCV001350118;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754308	19754308	C	T	22:g.19754308C>T	ClinGen:CA10102765	CN169374 not specified;
NM_001379200.1(TBX1):c.1436_1474dup (p.Ala479_Ala491dup)	6899	TBX1	Uncertain significance	-1	RCV001369825;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754309	19754310	T	TGCCGCAGCTGCCGCGGCCGCCAACATGTACTCGTCGGCC	19754309	-
NM_001379200.1(TBX1):c.1437C>T (p.Ala479=)	6899	TBX1	Likely benign	rs1415301935	RCV000917947;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754312	19754312	C	T	22:g.19754312C>T	-
NM_001379200.1(TBX1):c.1440A>C (p.Ala480=)	6899	TBX1	Likely benign	-1	RCV002130658;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754315	19754315	A	C	19754315	-
NM_001379200.1(TBX1):c.1446C>G (p.Ala482=)	6899	TBX1	Likely benign	-1	RCV001419386;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754321	19754321	C	G	19754321	-
NM_001379200.1(TBX1):c.1446C>T (p.Ala482=)	6899	TBX1	Likely benign	-1	RCV001443283;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754321	19754321	C	T	19754321	-
NM_001379200.1(TBX1):c.1451C>T (p.Ala484Val)	6899	TBX1	Uncertain significance	-1	RCV002034075;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754326	19754326	C	T	19754326	-
NM_001379200.1(TBX1):c.1461G>A (p.Met487Ile)	6899	TBX1	Uncertain significance	rs371506174	RCV000816868;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754336	19754336	G	A	22:g.19754336G>A	-
NM_001379200.1(TBX1):c.1462T>C (p.Tyr488His)	6899	TBX1	Uncertain significance	rs746250147	RCV001248155;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754337	19754337	T	C	22:g.19754337T>C	-
NM_001379200.1(TBX1):c.1466C>T (p.Ser489Leu)	6899	TBX1	Uncertain significance	-1	RCV001884157;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754341	19754341	C	T	19754341	-
NM_001379200.1(TBX1):c.1469C>T (p.Ser490Leu)	6899	TBX1	Uncertain significance	-1	RCV001906054;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754344	19754344	C	T	19754344	-
NM_001379200.1(TBX1):c.1472C>T (p.Ala491Val)	6899	TBX1	Uncertain significance	rs373987708	RCV001341090;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754347	19754347	C	T	19754347	-
NM_001379200.1(TBX1):c.1473C>T (p.Ala491=)	6899	TBX1	Likely benign	-1	RCV002078027;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754348	19754348	C	T	19754348	-
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg)	6899	TBX1	Uncertain significance	rs541198585	RCV000678753\|RCV001053392;	N	Human Phenotype Ontology:HP:0004383,MONDO:MONDO:0004933,MedGen:C0152101,OMIM:PS241550, Orphanet:2248\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754349	19754349	G	A	22:g.19754349G>A	-	C0152101 Hypoplastic left heart syndrome;
NM_001379200.1(TBX1):c.1474G>T (p.Gly492Ter)	6899	TBX1	Uncertain significance	rs541198585	RCV001048973;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754349	19754349	G	T	22:g.19754349G>T	-
NM_001379200.1(TBX1):c.1484C>A (p.Pro495Gln)	6899	TBX1	Uncertain significance	rs762076391	RCV000713778\|RCV001248343;	N	MedGen:CN517202\|MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754359	19754359	C	A	NC_000022.10:g.19754359C>A	-
NM_001379200.1(TBX1):c.1485G>T (p.Pro495=)	6899	TBX1	Likely benign	-1	RCV002212654;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754360	19754360	G	T	19754360	-
NM_001379200.1(TBX1):c.1500C>G (p.Asp500Glu)	6899	TBX1	Uncertain significance	-1	RCV001872225;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754375	19754375	C	G	19754375	-
NM_001379200.1(TBX1):c.1508C>G (p.Pro503Arg)	6899	TBX1	Uncertain significance	rs756769832	RCV001223075;	N	MONDO:MONDO:0008564,MedGen:C0012236,OMIM:188400, Orphanet:567	22	19754383	19754383	C	G	22:g.19754383C>G	-

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