ClinVar for MedGen (Select 370181) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362350	NM_001148.6(ANK2):c.6598G>A (p.Gly2200Ser)	ANK2 (G1000S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 2580989	NM_001148.6(ANK2):c.3741G>A (p.Met1247Ile)	ANK2 (M1086I +38 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 2576605	NM_001148.6(ANK2):c.3262C>T (p.Arg1088Ter)	ANK2 (R1001* +35 more)	Single nucleotide variant (nonsense)	ANK2-associated Neurodevelopmental Disorder +1 more	GPathogenic
Select item 2420098	NM_001148.6(ANK2):c.4372-12T>C	ANK2	Single nucleotide variant (intron variant)	Cardiac arrhythmia, ankyrin-B-related +1 more	GLikely benign
Select item 1709629	NM_001354269.3(ANK2):c.23C>G (p.Ala8Gly)	ANK2 (A8G)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 1683546	NM_001148.6(ANK2):c.5710G>A (p.Val1904Ile)	ANK2, LOC126807136 (V1826I +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 1678004	NM_001148.6(ANK2):c.9163T>G (p.Phe3055Val)	ANK2 (F1855V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1677444	NM_001148.6(ANK2):c.10431C>A (p.Phe3477Leu)	ANK2 (F2277L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1575670	NM_001148.6(ANK2):c.285+12G>A	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GLikely benign
Select item 1485011	NM_001148.6(ANK2):c.6442G>T (p.Asp2148Tyr)	ANK2 (D2195Y +4 more)	Single nucleotide variant (intron variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 1468820	NM_001148.6(ANK2):c.7971C>G (p.Ser2657Arg)	ANK2, LOC126807137 (S2657R +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 1465353	NM_001148.6(ANK2):c.6820C>T (p.Arg2274Cys)	ANK2, LOC126807137 (R2274C +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1444516	NM_001148.6(ANK2):c.4259C>T (p.Thr1420Met)	ANK2 (T1345M +38 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity
Select item 1443969	NM_001148.6(ANK2):c.1474G>A (p.Ala492Thr)	ANK2 (A463T +11 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1416687	NM_001148.6(ANK2):c.7082A>G (p.His2361Arg)	ANK2, LOC126807137 (H2283R +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GUncertain significance
Select item 1416396	NM_001148.6(ANK2):c.5249C>T (p.Thr1750Ile)	ANK2, LOC126807136 (T1672I +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1408309	NM_001148.6(ANK2):c.10370C>T (p.Thr3457Met)	ANK2 (T3379M +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GUncertain significance
Select item 1403197	NM_001148.6(ANK2):c.7388C>T (p.Ser2463Phe)	ANK2, LOC126807137 (S1263F +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1393809	NM_001148.6(ANK2):c.9967A>G (p.Ser3323Gly)	ANK2 (S3323G +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity
Select item 1392101	NM_001148.6(ANK2):c.10264G>A (p.Glu3422Lys)	ANK2 (E3422K +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1384168	NM_001148.6(ANK2):c.5507C>G (p.Ser1836Cys)	ANK2, LOC126807136 (S1758C +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1367968	NM_001148.6(ANK2):c.2761G>A (p.Val921Met)	ANK2 (V826M +24 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1357507	NM_001148.6(ANK2):c.2768A>T (p.Asp923Val)	ANK2 (D890V +24 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1343527	NM_001148.6(ANK2):c.2460CAC[6] (p.Thr826dup)	ANK2	Microsatellite (inframe_insertion)	Long QT syndrome +3 more	GUncertain significance
Select item 1339932	NM_001148.6(ANK2):c.10080G>C (p.Gln3360His)	ANK2 (Q2160H +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 1320761	NM_001148.6(ANK2):c.8057T>A (p.Val2686Glu)	ANK2 (V1486E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1318748	NM_001148.6(ANK2):c.11807A>G (p.Tyr3936Cys)	ANK2 (Y1027C +50 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 1316154	NM_001148.6(ANK2):c.10423A>G (p.Ile3475Val)	ANK2 (I2275V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1315724	NM_001148.6(ANK2):c.1994C>A (p.Pro665Gln)	ANK2 (P537Q +15 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1297629	NM_001148.6(ANK2):c.10126G>A (p.Gly3376Arg)	ANK2 (G2176R +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 1296983	NM_001148.6(ANK2):c.7000G>A (p.Ala2334Thr)	ANK2, LOC126807137 (A1134T +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 1294200	NM_001148.6(ANK2):c.11616C>T (p.Asp3872=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1292228	NM_001148.6(ANK2):c.4404+16T>C	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome +3 more	GBenign
Select item 1211590	NM_001148.6(ANK2):c.8176A>G (p.Thr2726Ala)	ANK2 (T1526A +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1206823	NM_001148.6(ANK2):c.6977A>G (p.Asp2326Gly)	ANK2, LOC126807137 (D1126G +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1188715	NM_001148.6(ANK2):c.7265G>A (p.Ser2422Asn)	ANK2, LOC126807137 (S1222N +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1186234	NM_001148.6(ANK2):c.109C>T (p.Arg37Cys)	ANK2 (R16C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1145670	NM_001148.6(ANK2):c.1710A>G (p.Ala570=)	ANK2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1145041	NM_001148.6(ANK2):c.547T>C (p.Leu183=)	ANK2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1144677	NM_001148.6(ANK2):c.5508C>T (p.Ser1836=)	ANK2, LOC126807136	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 1131074	NM_001148.6(ANK2):c.84+7C>T	ANK2	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GBenign/Likely benign
Select item 1127161	NM_001148.6(ANK2):c.11523G>A (p.Pro3841=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1105899	NM_001148.6(ANK2):c.2364C>T (p.Asn788=)	ANK2	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 1064133	NM_001148.6(ANK2):c.5060C>A (p.Thr1687Lys)	ANK2 (T1609K +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1063586	NM_001148.6(ANK2):c.4930C>A (p.Leu1644Met)	ANK2 (L1566M +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GUncertain significance
Select item 1063057	NM_001148.6(ANK2):c.3295A>C (p.Ser1099Arg)	ANK2 (S1004R +35 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1061975	NM_001148.6(ANK2):c.11225C>T (p.Pro3742Leu)	ANK2 (P1496L +43 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +2 more	GUncertain significance
Select item 1055348	NM_001148.6(ANK2):c.9175G>T (p.Val3059Leu)	ANK2 (V1859L +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +3 more	GUncertain significance
Select item 1050947	NM_001148.6(ANK2):c.10375C>T (p.Pro3459Ser)	ANK2 (P2259S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GUncertain significance
Select item 1047560	NM_001148.6(ANK2):c.5431C>T (p.Pro1811Ser)	ANK2, LOC126807136 (P1811S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity
Select item 1046286	NM_001148.6(ANK2):c.11302T>C (p.Tyr3768His)	ANK2 (Y1522H +43 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +2 more	GUncertain significance
Select item 1046142	NM_001148.6(ANK2):c.10753A>T (p.Thr3585Ser)	ANK2 (T1405S +43 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1044307	NM_001148.6(ANK2):c.10231A>T (p.Thr3411Ser)	ANK2 (T3411S +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1042920	NM_001148.6(ANK2):c.9242A>T (p.Asp3081Val)	ANK2 (D3120V +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1040690	NM_001148.6(ANK2):c.5351G>C (p.Arg1784Pro)	ANK2, LOC126807136 (R1706P +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1033338	NM_001148.6(ANK2):c.7985C>T (p.Ser2662Phe)	ANK2, LOC126807137 (S1462F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1033337	NM_001148.6(ANK2):c.4341del (p.Asn1447_Leu1448insTer)	ANK2	Deletion (frameshift variant)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 1033336	NM_001148.6(ANK2):c.1459G>T (p.Gly487Cys)	ANK2 (G392C +11 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1027748	NM_001148.6(ANK2):c.10375C>G (p.Pro3459Ala)	ANK2 (P3459A +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 1026640	NM_001148.6(ANK2):c.9656G>T (p.Ser3219Ile)	ANK2 (S2019I +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +1 more	GUncertain significance
Select item 1024600	NM_001148.6(ANK2):c.1993C>T (p.Pro665Ser)	ANK2 (P537S +15 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity
Select item 1013838	NM_001148.6(ANK2):c.11825G>A (p.Arg3942His)	ANK2 (R1033H +50 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1010772	NM_001148.6(ANK2):c.229G>A (p.Val77Met)	ANK2 (V56M +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1006731	NM_001148.6(ANK2):c.4436C>G (p.Thr1479Arg)	ANK2 (T1401R +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1000240	NM_001148.6(ANK2):c.3434G>A (p.Arg1145Gln)	ANK2 (R1017Q +37 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 994218	NM_001148.6(ANK2):c.2900+5143G>A	ANK2 (A1004T +8 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 985758	NM_001148.6(ANK2):c.3019C>T (p.Arg1007Ter)	ANK2 (R1002* +30 more)	Single nucleotide variant (nonsense)	Cardiac arrhythmia, ankyrin-B-related +1 more	GPathogenic/Likely pathogenic
Select item 985692	NM_001148.6(ANK2):c.11761C>T (p.Gln3921Ter)	ANK2 (Q1012* +50 more)	Single nucleotide variant (nonsense +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GPathogenic
Select item 973034	NM_001148.6(ANK2):c.1069C>T (p.Pro357Ser)	ANK2 (P353S +8 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 964018	NM_001148.6(ANK2):c.7729G>A (p.Gly2577Arg)	ANK2, LOC126807137 (G2577R +4 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 950595	NM_001148.6(ANK2):c.5618G>A (p.Ser1873Asn)	ANK2, LOC126807136 (S1873N +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 949289	NM_001148.6(ANK2):c.7860TTC[1] (p.Ser2624del)	ANK2, LOC126807137 (S2624del +4 more)	Microsatellite (inframe_deletion +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 948688	NM_001148.6(ANK2):c.6170C>T (p.Pro2057Leu)	ANK2, LOC126807136 (P2057L +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity
Select item 945979	NM_001148.6(ANK2):c.1756C>T (p.Arg586Cys)	ANK2 (R491C +11 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 936236	NM_001148.6(ANK2):c.2557A>C (p.Thr853Pro)	ANK2 (T758P +16 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 930928	NM_001148.6(ANK2):c.157G>T (p.Gly53Trp)	ANK2 (G47W +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 930692	NM_001148.6(ANK2):c.533C>T (p.Ala178Val)	ANK2 (A174V +5 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 903652	NM_001148.6(ANK2):c.1667A>G (p.His556Arg)	ANK2 (H461R +11 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +2 more	GUncertain significance
Select item 903651	NM_001148.6(ANK2):c.1387-8C>T	ANK2	Single nucleotide variant (intron variant)	Cardiac arrhythmia, ankyrin-B-related +1 more	GConflicting classifications of pathogenicity
Select item 903146	NM_001148.6(ANK2):c.*840G>A	ANK2	Single nucleotide variant (3 prime UTR variant)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 903145	NM_001148.6(ANK2):c.*708C>T	ANK2	Single nucleotide variant (3 prime UTR variant)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 903144	NM_001148.6(ANK2):c.*520G>C	ANK2	Single nucleotide variant (3 prime UTR variant)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 903143	NM_001148.6(ANK2):c.*299G>A	ANK2	Single nucleotide variant (3 prime UTR variant)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 903142	NM_001148.6(ANK2):c.*243A>T	ANK2	Single nucleotide variant (3 prime UTR variant)	Cardiac arrhythmia, ankyrin-B-related	GLikely benign
Select item 903141	NM_001148.6(ANK2):c.*236G>A	ANK2	Single nucleotide variant (3 prime UTR variant)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 903083	NM_001148.6(ANK2):c.10888G>A (p.Asp3630Asn)	ANK2 (D1467N +43 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 903082	NM_001148.6(ANK2):c.10660A>T (p.Asn3554Tyr)	ANK2 (N3554Y +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GUncertain significance
Select item 903029	NM_001148.6(ANK2):c.8942T>C (p.Val2981Ala)	ANK2 (V2981A +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +1 more	GUncertain significance
Select item 902971	NM_001148.6(ANK2):c.7346A>G (p.His2449Arg)	ANK2, LOC126807137 (H2449R +4 more)	Single nucleotide variant (intron variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity
Select item 902917	NM_001148.6(ANK2):c.5456C>T (p.Ala1819Val)	ANK2, LOC126807136 (A1819V +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related +3 more	GConflicting classifications of pathogenicity
Select item 902916	NM_001148.6(ANK2):c.5326C>G (p.Arg1776Gly)	ANK2, LOC126807136 (R1776G +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 902854	NM_001148.6(ANK2):c.3496C>T (p.Pro1166Ser)	ANK2 (P1038S +37 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 902853	NM_001148.6(ANK2):c.3379+4C>T	ANK2	Single nucleotide variant (intron variant)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 902852	NM_001148.6(ANK2):c.3337A>G (p.Thr1113Ala)	ANK2 (T1013A +35 more)	Single nucleotide variant (missense variant)	Cardiac arrhythmia, ankyrin-B-related +2 more	GConflicting classifications of pathogenicity
Select item 902851	NM_001148.6(ANK2):c.3274A>C (p.Arg1092=)	ANK2	Single nucleotide variant (synonymous variant)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 902276	NM_001148.6(ANK2):c.*94G>A	ANK2	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiac arrhythmia, ankyrin-B-related	GLikely benign
Select item 902275	NM_001148.6(ANK2):c.*74G>A	ANK2 (V4145I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 902200	NM_001148.6(ANK2):c.10019A>G (p.Asp3340Gly)	ANK2 (D3340G +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 902150	NM_001148.6(ANK2):c.8604A>G (p.Thr2868=)	ANK2	Single nucleotide variant (synonymous variant +1 more)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance
Select item 902092	NM_001148.6(ANK2):c.6675T>G (p.Ile2225Met)	ANK2 (I2225M +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiac arrhythmia, ankyrin-B-related	GUncertain significance

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