ClinVar for MedGen (Select 341803) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 139

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2966995	NM_001136271.3(NKX2-6):c.340A>C (p.Asn114His)	NKX2-6 (N114H)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2958255	NM_001136271.3(NKX2-6):c.298C>A (p.Pro100Thr)	NKX2-6 (P100T)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2900025	NM_001136271.3(NKX2-6):c.780C>T (p.Tyr260=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 2890547	NM_001136271.3(NKX2-6):c.572G>T (p.Arg191Leu)	NKX2-6 (R191L)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2849135	NM_001136271.3(NKX2-6):c.381C>G (p.Pro127=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 2847617	NM_001136271.3(NKX2-6):c.801T>C (p.Pro267=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 2766997	NM_001136271.3(NKX2-6):c.67C>A (p.Arg23=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 2754386	NM_001136271.3(NKX2-6):c.614C>T (p.Pro205Leu)	NKX2-6 (P205L)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2750660	NM_001136271.3(NKX2-6):c.521C>T (p.Thr174Met)	NKX2-6 (T174M)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2742621	NM_001136271.3(NKX2-6):c.415T>C (p.Phe139Leu)	NKX2-6 (F139L)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2721580	NM_001136271.3(NKX2-6):c.632C>G (p.Pro211Arg)	NKX2-6 (P211R)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2712063	NM_001136271.3(NKX2-6):c.771C>T (p.Gly257=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 2710725	NM_001136271.3(NKX2-6):c.156G>T (p.Gly52=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 2699643	NM_001136271.3(NKX2-6):c.142G>T (p.Ala48Ser)	NKX2-6 (A48S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2690915	NM_005257.6(GATA6):c.729_730del (p.Gly244fs)	GATA6 (G244fs)	Deletion (frameshift variant)	Conotruncal heart malformations	GPathogenic
Select item 2690912	NM_004387.4(NKX2-5):c.492_494del (p.Ala165del)	NKX2-5 (A165del)	Deletion (3 prime UTR variant +1 more)	Conotruncal heart malformations	GUncertain significance
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 2434372	NM_001136271.3(NKX2-6):c.620G>A (p.Arg207Gln)	NKX2-6 (R207Q)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2432235	NM_001136271.3(NKX2-6):c.568C>T (p.Gln190Ter)	NKX2-6 (Q190*)	Single nucleotide variant (nonsense)	Conotruncal heart malformations	GLikely pathogenic
Select item 2161539	NM_001136271.3(NKX2-6):c.226C>T (p.Pro76Ser)	NKX2-6 (P76S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2145318	NM_001136271.3(NKX2-6):c.314C>G (p.Thr105Ser)	NKX2-6 (T105S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2145317	NM_001136271.3(NKX2-6):c.315del (p.Arg106fs)	NKX2-6 (R106fs)	Deletion (frameshift variant)	Conotruncal heart malformations	GUncertain significance
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 2080069	NM_001136271.3(NKX2-6):c.446G>A (p.Arg149Gln)	NKX2-6 (R149Q)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2047096	NM_001136271.3(NKX2-6):c.291G>A (p.Ala97=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 2030140	NM_001136271.3(NKX2-6):c.86_87insT (p.Pro30fs)	NKX2-6 (P30fs)	Insertion (frameshift variant)	Conotruncal heart malformations	GUncertain significance
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 1989335	NM_001136271.3(NKX2-6):c.698C>A (p.Pro233His)	NKX2-6 (P233H)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
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 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 1513612	NM_001136271.3(NKX2-6):c.281G>T (p.Gly94Val)	NKX2-6 (G94V)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1513585	NM_001136271.3(NKX2-6):c.593T>C (p.Leu198Pro)	NKX2-6 (L198P)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
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 1456828	NM_001136271.3(NKX2-6):c.341A>G (p.Asn114Ser)	NKX2-6 (N114S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GLikely benign
Select item 1439841	NM_001136271.3(NKX2-6):c.367C>G (p.Arg123Gly)	NKX2-6 (R123G)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
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 1414844	NM_001379200.1(TBX1):c.711+3G>A	TBX1	Single nucleotide variant (intron variant)	Tetralogy of Fallot +3 more	GUncertain significance
Select item 1410288	NC_000008.10:g.(?_21900440)_(23564111_?)dup	BIN3, BMP1 +32 more	Duplication	Conotruncal heart malformations	GUncertain significance
Select item 1398180	NM_001136271.3(NKX2-6):c.538T>C (p.Phe180Leu)	NKX2-6 (F180L)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1393632	NM_001136271.3(NKX2-6):c.464G>C (p.Arg155Pro)	NKX2-6 (R155P)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
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 1382817	NM_001136271.3(NKX2-6):c.125A>G (p.Gln42Arg)	NKX2-6 (Q42R)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	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 1368828	NM_001136271.3(NKX2-6):c.644G>A (p.Arg215His)	NKX2-6 (R215H)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +1 more	GUncertain significance
Select item 1311053	NM_001136271.3(NKX2-6):c.368G>A (p.Arg123His)	NKX2-6 (R123H)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +1 more	GConflicting classifications of pathogenicity
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 +8 more	GUncertain significance
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 1172828	NM_001136271.3(NKX2-6):c.455dup (p.Gln153fs)	NKX2-6 (Q153fs)	Duplication (frameshift variant)	Cerebral palsy +1 more	GLikely pathogenic; risk factor
Select item 1164513	NM_001136271.3(NKX2-6):c.204T>C (p.Asp68=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations +2 more	GBenign
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 1107854	NM_001136271.3(NKX2-6):c.444G>A (p.Glu148=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 1087961	NM_001136271.3(NKX2-6):c.516G>A (p.Thr172=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 1077541	NM_001136271.3(NKX2-6):c.771C>G (p.Gly257=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
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 1058355	NM_001136271.3(NKX2-6):c.35C>T (p.Ser12Leu)	NKX2-6 (S12L)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1046880	NM_001136271.3(NKX2-6):c.50T>C (p.Leu17Pro)	NKX2-6 (L17P)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1041818	NM_001136271.3(NKX2-6):c.364G>T (p.Gly122Cys)	NKX2-6 (G122C)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1034215	NM_001379200.1(TBX1):c.902C>G (p.Ala301Gly)	TBX1 (A292G +1 more)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1030988	NM_005992.1(TBX1):c.1111G>A (p.Asp371Asn)	TBX1 (D371N)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	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 1021570	NM_001136271.3(NKX2-6):c.625G>T (p.Ala209Ser)	NKX2-6 (A209S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	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 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 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 1008180	NM_001136271.3(NKX2-6):c.168C>A (p.His56Gln)	NKX2-6 (H56Q)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1003022	NM_001136271.3(NKX2-6):c.478C>T (p.Pro160Ser)	NKX2-6 (P160S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1002887	NM_001136271.3(NKX2-6):c.543G>C (p.Gln181His)	NKX2-6 (Q181H)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1001000	NM_001136271.3(NKX2-6):c.171C>A (p.Asn57Lys)	NKX2-6 (N57K)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 999815	NM_005257.6(GATA6):c.660C>T (p.Gly220=)	GATA6	Single nucleotide variant (synonymous variant)	Tetralogy of Fallot +4 more	GConflicting classifications of pathogenicity
Select item 992543	NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly)	TBX1 (A349G +1 more)	Single nucleotide variant (missense variant +1 more)	Velocardiofacial syndrome +3 more	GUncertain significance
Select item 972419	NM_001136271.3(NKX2-6):c.181G>A (p.Gly61Ser)	NKX2-6 (G61S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 939551	NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys)	NKX2-5 (N129K)	Single nucleotide variant (3 prime UTR variant +1 more)	Conotruncal heart malformations +6 more	GConflicting classifications of pathogenicity
Select item 934486	NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys)	TBX1 (E266K +1 more)	Single nucleotide variant (missense variant)	Tetralogy of Fallot +4 more	GConflicting classifications of pathogenicity
Select item 864172	NM_001136271.3(NKX2-6):c.434T>C (p.Leu145Pro)	NKX2-6 (L145P)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 863328	NM_005257.6(GATA6):c.367A>G (p.Thr123Ala)	GATA6 (T123A)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 5 +4 more	GUncertain significance
Select item 862013	NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg)	NKX2-5 (P212R)	Single nucleotide variant (3 prime UTR variant +1 more)	Conotruncal heart malformations +7 more	GUncertain significance
Select item 859947	NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu)	NKX2-5 (F295L)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +6 more	GUncertain significance
Select item 858922	NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly)	TBX1	Insertion (inframe_insertion +1 more)	Velocardiofacial syndrome +3 more	GUncertain significance
Select item 855836	NM_004387.4(NKX2-5):c.96G>C (p.Glu32Asp)	NKX2-5 (E32D)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +5 more	GUncertain significance
Select item 850796	NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val)	NKX2-5 (A63V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 849923	NM_001136271.3(NKX2-6):c.673C>T (p.Pro225Ser)	NKX2-6 (P225S)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 849922	NM_001136271.3(NKX2-6):c.649G>T (p.Gly217Cys)	NKX2-6 (G217C)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 837477	NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu)	NKX2-5 (A281E)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +6 more	GUncertain significance
Select item 803643	NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu)	TBX1 (P396L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 800274	NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln)	TBX1 (P384Q +1 more)	Single nucleotide variant (missense variant +1 more)	DiGeorge syndrome +4 more	GConflicting classifications of pathogenicity
Select item 775969	NM_001136271.3(NKX2-6):c.196A>C (p.Lys66Gln)	NKX2-6 (K66Q)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GLikely benign
Select item 701675	NM_001136271.3(NKX2-6):c.468C>T (p.Tyr156=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 700342	NM_005257.6(GATA6):c.735G>A (p.Gly245=)	GATA6	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 5 +4 more	GLikely benign
Select item 696313	NM_001136271.3(NKX2-6):c.150G>T (p.Pro50=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations	GLikely benign
Select item 681683	NM_004387.4(NKX2-5):c.609G>A (p.Glu203=)	NKX2-5	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +7 more	GLikely benign
Select item 653156	NM_001136271.3(NKX2-6):c.895A>G (p.Arg299Gly)	NKX2-6 (R299G)	Single nucleotide variant (missense variant)	Conotruncal heart malformations +1 more	GUncertain significance
Select item 636939	NM_001379200.1(TBX1):c.152_232del (p.Glu51_His77del)	TBX1	Deletion (inframe_deletion)	not provided +4 more	GUncertain significance
Select item 626178	NM_001379200.1(TBX1):c.351C>T (p.Ala117=)	TBX1	Single nucleotide variant (synonymous variant)	Tetralogy of Fallot +4 more	GConflicting classifications of pathogenicity
Select item 598931	NM_001379200.1(TBX1):c.1401C>G (p.Pro467=)	TBX1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 580887	NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr)	NKX2-5 (P275T)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +7 more	GLikely benign

<< First< Prev

Page of 2