ClinVar for MedGen (Select 21498) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362699	NM_004387.4(NKX2-5):c.335-310_335-309insA	NKX2-5	Insertion (intron variant)	Tetralogy of Fallot	GLikely benign
Select item 3256869	NM_001308093.3(GATA4):c.620A>G (p.Asp207Gly)	GATA4 (D206G +1 more)	Single nucleotide variant (missense variant +1 more)	Tetralogy of Fallot	GUncertain significance
Select item 3062017	NM_002253.4(KDR):c.2614+1G>A	KDR	Single nucleotide variant (splice donor variant)	Tetralogy of Fallot	GLikely pathogenic
Select item 2582525	NM_001379200.1(TBX1):c.736T>C (p.Tyr246His)	TBX1 (Y237H +1 more)	Single nucleotide variant (missense variant)	Tetralogy of Fallot +2 more	GUncertain significance
Select item 2573093	NM_004387.4(NKX2-5):c.469T>G (p.Phe157Val)	NKX2-5 (F157V)	Single nucleotide variant (3 prime UTR variant +1 more)	Tetralogy of Fallot	GLikely pathogenic
Select item 2505066	NM_080646.2(TBX1):c.1143_1149delinsTGGGTATTG (p.Phe382fs)	TBX1 (F382fs)	Indel (frameshift variant +1 more)	Tetralogy of Fallot +3 more	Gnot provided
Select item 2500038	NM_005257.6(GATA6):c.202G>C (p.Glu68Gln)	GATA6 (E68Q)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +4 more	GUncertain significance
Select item 2441780	NM_001379200.1(TBX1):c.437+1G>C	TBX1	Single nucleotide variant (splice donor variant)	DiGeorge syndrome +2 more	GLikely pathogenic
Select item 2086566	NM_001379200.1(TBX1):c.170_229del (p.Pro57_Pro76del)	TBX1	Deletion (inframe_deletion)	DiGeorge syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2001091	NM_001379200.1(TBX1):c.1342C>A (p.Pro448Thr)	TBX1 (P439T +1 more)	Single nucleotide variant (missense variant +1 more)	Conotruncal heart malformations +3 more	GConflicting classifications of pathogenicity
Select item 1934268	NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)	TBX1 (A335V +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1805243	NM_000214.3(JAG1):c.744A>T (p.Pro248=)	JAG1	Single nucleotide variant (synonymous variant)	Tetralogy of Fallot +1 more	GConflicting classifications of pathogenicity
Select item 1707635	NM_001458.5(FLNC):c.1453C>T (p.Gln485Ter)	FLNC (Q485*)	Single nucleotide variant (nonsense)	Tetralogy of Fallot	GPathogenic
Select item 1706502	GRCh37/hg19 2q13(chr2:110504318-111365996)x1	LIMS3, LIMS4 +4 more	Copy number loss	Tetralogy of Fallot +1 more	GConflicting classifications of pathogenicity
Select item 1702935	NM_001719.3(BMP7):c.847G>A (p.Ala283Thr)	BMP7 (A283T)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GBenign
Select item 1660001	NM_000214.3(JAG1):c.1570-20G>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GBenign/Likely benign
Select item 1643557	NM_000214.3(JAG1):c.2228-13T>G	JAG1	Single nucleotide variant (intron variant)	Deafness, congenital heart defects, and posterior embryotoxon +3 more	GLikely benign
Select item 1642698	NM_000214.3(JAG1):c.1797T>C (p.Cys599=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1630633	NM_000214.3(JAG1):c.1349-7T>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1607653	NM_000214.3(JAG1):c.2916+17G>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1600686	NM_000214.3(JAG1):c.2344+17del	JAG1	Deletion (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GBenign/Likely benign
Select item 1599523	NM_000214.3(JAG1):c.694+4TG[8]	JAG1	Microsatellite (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GBenign/Likely benign
Select item 1583127	NM_005257.6(GATA6):c.525G>T (p.Ala175=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5 +4 more	GLikely benign
Select item 1583077	NM_000214.3(JAG1):c.1885+12T>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GLikely benign
Select item 1581620	NM_000214.3(JAG1):c.819C>T (p.His273=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GLikely benign
Select item 1574529	NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr)	LOC126860469, ZFPM2 +1 more (K856T +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +2 more	GLikely benign
Select item 1569637	NM_000214.3(JAG1):c.1120+11T>C	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1562213	NM_000214.3(JAG1):c.2345-10T>G	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1558608	NM_012082.4(ZFPM2):c.40+12C>G	ZFPM2	Single nucleotide variant (intron variant)	Diaphragmatic hernia 3 +2 more	GBenign/Likely benign
Select item 1549663	NM_000214.3(JAG1):c.975T>G (p.Pro325=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1538354	NM_000214.3(JAG1):c.2682+20G>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1513563	NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr)	NKX2-5 (A255T)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +6 more	GUncertain significance
Select item 1513270	NM_000214.3(JAG1):c.3109G>A (p.Asp1037Asn)	JAG1 (D1037N)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GConflicting classifications of pathogenicity
Select item 1498899	NM_000214.3(JAG1):c.2312A>C (p.Lys771Thr)	JAG1 (K771T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance
Select item 1497172	NM_000214.3(JAG1):c.1349-19_1349-17del	JAG1	Microsatellite (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1494264	NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys)	JAG1 (R1181K)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 1487922	NM_000214.3(JAG1):c.1329G>A (p.Met443Ile)	JAG1 (M443I)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance
Select item 1487741	NM_000214.3(JAG1):c.1720+16dup	JAG1	Duplication (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1480052	NM_000214.3(JAG1):c.2050G>A (p.Asp684Asn)	JAG1 (D684N)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance
Select item 1472958	NM_000214.3(JAG1):c.3478G>A (p.Asp1160Asn)	JAG1 (D1160N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1445033	NM_000214.3(JAG1):c.316A>G (p.Thr106Ala)	JAG1 (T106A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1439076	NM_004387.4(NKX2-5):c.370A>G (p.Lys124Glu)	NKX2-5 (K124E)	Single nucleotide variant (3 prime UTR variant +1 more)	Hypothyroidism, congenital, nongoitrous, 5 +5 more	GUncertain significance
Select item 1437112	NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val)	NKX2-5 (A165V)	Single nucleotide variant (3 prime UTR variant +1 more)	Ventricular septal defect 3 +7 more	GUncertain significance
Select item 1434353	NM_000214.3(JAG1):c.2758A>T (p.Ile920Phe)	JAG1 (I920F)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GConflicting classifications of pathogenicity
Select item 1431704	NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu)	JAG1 (P1006L)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 1414844	NM_001379200.1(TBX1):c.711+3G>A	TBX1	Single nucleotide variant (intron variant)	Tetralogy of Fallot +3 more	GUncertain significance
Select item 1387689	NM_000214.3(JAG1):c.2372+13T>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1382862	NM_001379200.1(TBX1):c.740A>G (p.Gln247Arg)	TBX1 (Q247R +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +3 more	GUncertain significance
Select item 1377875	NM_004387.4(NKX2-5):c.510G>C (p.Gln170His)	NKX2-5 (Q170H)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +5 more	GUncertain significance
Select item 1372032	NM_001308093.3(GATA4):c.623T>C (p.Met208Thr)	GATA4 (M1T +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1358646	NM_000214.3(JAG1):c.1270G>A (p.Ala424Thr)	JAG1 (A424T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GConflicting classifications of pathogenicity
Select item 1345181	NM_000214.3(JAG1):c.418G>A (p.Asp140Asn)	JAG1 (D140N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, Type 2HH +3 more	GUncertain significance
Select item 1318652	NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter)	JAG1 (R1213*)	Single nucleotide variant (nonsense)	not provided +4 more	GUncertain significance
Select item 1314160	NM_001308093.3(GATA4):c.1149G>A (p.Gln383=)	GATA4	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 4 +5 more	GUncertain significance
Select item 1311036	NM_005257.6(GATA6):c.259C>T (p.Pro87Ser)	GATA6 (P87S)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +5 more	GUncertain significance
Select item 1308506	NM_004387.4(NKX2-5):c.893G>A (p.Gly298Glu)	NKX2-5 (G298E)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 1266234	NM_000214.3(JAG1):c.1707G>A (p.Thr569=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +5 more	GBenign/Likely benign
Select item 1213748	NM_001379200.1(TBX1):c.623C>T (p.Ser208Leu)	TBX1 (S199L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197085	NM_001308093.3(GATA4):c.1240C>G (p.Pro414Ala)	GATA4 (P165A +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4 +5 more	GUncertain significance
Select item 1169860	NM_000214.3(JAG1):c.414G>A (p.Ala138=)	JAG1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1168106	NM_000214.3(JAG1):c.3141G>A (p.Ser1047=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1167792	NM_000214.3(JAG1):c.2227+17C>T	JAG1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1164343	NM_000214.3(JAG1):c.1396-27TC[6]	JAG1	Microsatellite (intron variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GBenign/Likely benign
Select item 1158048	NM_000214.3(JAG1):c.2499G>A (p.Ala833=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1152785	NM_000214.3(JAG1):c.493C>T (p.Arg165Trp)	JAG1 (R165W)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1147881	NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr)	JAG1 (A833T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 1137928	NM_000214.3(JAG1):c.2573-15G>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1137711	NM_000214.3(JAG1):c.2250C>T (p.Pro750=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1133398	NM_000214.3(JAG1):c.1608C>T (p.Asn536=)	JAG1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1128925	NM_000214.3(JAG1):c.120G>C (p.Leu40=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1124192	NM_000214.3(JAG1):c.1720+16C>T	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GLikely benign
Select item 1114796	NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln)	TBX1 (R305Q +1 more)	Single nucleotide variant (missense variant)	DiGeorge syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1106210	NM_000214.3(JAG1):c.1720+17G>A	JAG1	Single nucleotide variant (intron variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1103901	NM_000214.3(JAG1):c.1383C>T (p.Asp461=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +5 more	GLikely benign
Select item 1098921	GRCh37/hg19 3p12.3(chr3:78653578-79071345)x1	ROBO1	Copy number loss	Tetralogy of Fallot	GLikely pathogenic
Select item 1088960	NM_000214.3(JAG1):c.993C>T (p.Pro331=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1080502	NM_000214.3(JAG1):c.3237G>C (p.Val1079=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GLikely benign
Select item 1062934	NM_000214.3(JAG1):c.3398C>T (p.Thr1133Met)	JAG1 (T1133M)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GConflicting classifications of pathogenicity
Select item 1061973	NM_004387.4(NKX2-5):c.627GCC[7] (p.Pro213_Pro214dup)	NKX2-5	Microsatellite (3 prime UTR variant +1 more)	Conotruncal heart malformations +5 more	GUncertain significance
Select item 1060987	NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1])	TBX1	Microsatellite (inframe_deletion +1 more)	DiGeorge syndrome +3 more	GUncertain significance
Select item 1060160	NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr)	JAG1 (P901T)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 1051296	NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser)	JAG1 (G1188S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1047239	NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser)	JAG1 (N1110S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 1046663	NM_000214.3(JAG1):c.978G>A (p.Glu326=)	JAG1	Single nucleotide variant (synonymous variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 1039967	NM_000214.3(JAG1):c.86G>C (p.Cys29Ser)	JAG1 (C29S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance
Select item 1037966	NM_000214.3(JAG1):c.349C>G (p.Arg117Gly)	JAG1 (R117G)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +4 more	GConflicting classifications of pathogenicity
Select item 1032929	NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs)	JAG1 (C1002fs)	Duplication (frameshift variant)	Tetralogy of Fallot	GPathogenic
Select item 1030221	NM_012082.4(ZFPM2):c.2201G>A (p.Arg734His)	LOC126860469, ZFPM2 +1 more (R734H +2 more)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GUncertain significance
Select item 1030220	NM_012082.4(ZFPM2):c.1046A>C (p.Asn349Thr)	ZFPM2, ZFPM2-AS1 (N217T +2 more)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GUncertain significance
Select item 1028615	NM_000214.3(JAG1):c.1036C>T (p.His346Tyr)	JAG1 (H346Y)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GUncertain significance
Select item 1022958	NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly)	NKX2-5 (A83G)	Single nucleotide variant (missense variant)	Tetralogy of Fallot +6 more	GUncertain significance
Select item 1021433	NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser)	NKX2-5 (A57S)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1021042	NM_004387.4(NKX2-5):c.521T>G (p.Val174Gly)	NKX2-5 (V174G)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +5 more	GUncertain significance
Select item 1020832	NM_000214.3(JAG1):c.3287_3295del (p.Arg1096_Lys1098del)	JAG1	Deletion (inframe_deletion)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance
Select item 1020741	NM_000214.3(JAG1):c.322A>C (p.Asn108His)	JAG1 (N108H)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GUncertain significance
Select item 1019319	NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln)	NKX2-5 (E60Q)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +7 more	GUncertain significance
Select item 1018280	NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn)	JAG1 (D489N)	Single nucleotide variant (missense variant)	Deafness, congenital heart defects, and posterior embryotoxon +4 more	GConflicting classifications of pathogenicity
Select item 1016187	NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys)	NKX2-5 (R217K)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +5 more	GUncertain significance
Select item 1011417	NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu)	JAG1 (P943L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1005101	NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro)	JAG1 (S971P)	Single nucleotide variant (missense variant)	Alagille syndrome due to a JAG1 point mutation +3 more	GConflicting classifications of pathogenicity

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