ClinVar for MedGen (Select 442824) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436218	NM_003098.3(SNTA1):c.1487C>T (p.Ala496Val)	SNTA1 (A496V)	Single nucleotide variant (missense variant)	Long QT syndrome 12	GUncertain significance
Select item 1510952	NM_003098.3(SNTA1):c.1309G>A (p.Glu437Lys)	SNTA1 (E437K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1502599	NM_003098.3(SNTA1):c.419G>C (p.Gly140Ala)	SNTA1 (G140A)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +2 more	GConflicting classifications of pathogenicity
Select item 1385056	NM_003098.3(SNTA1):c.1484C>T (p.Ser495Leu)	SNTA1 (S495L)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +3 more	GUncertain significance
Select item 1374406	NM_003098.3(SNTA1):c.910-3C>T	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1308602	NM_003098.3(SNTA1):c.316C>T (p.Arg106Trp)	SNTA1 (R106W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1284709	NM_003098.3(SNTA1):c.497-5A>G	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome 12 +2 more	GUncertain significance
Select item 1056568	NM_003098.3(SNTA1):c.1283A>G (p.Asp428Gly)	SNTA1 (D428G)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1040676	NM_003098.3(SNTA1):c.370G>A (p.Asp124Asn)	SNTA1 (D124N)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +1 more	GUncertain significance
Select item 1038413	NM_003098.3(SNTA1):c.1003_1021dup (p.Ala341fs)	SNTA1 (A341fs)	Duplication (frameshift variant)	not provided +3 more	GUncertain significance
Select item 1029669	NM_003098.3(SNTA1):c.185C>A (p.Ala62Glu)	SNTA1 (A62E)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +1 more	GUncertain significance
Select item 1023617	NM_003098.3(SNTA1):c.1340G>A (p.Arg447Gln)	SNTA1 (R447Q)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +2 more	GConflicting classifications of pathogenicity
Select item 1000015	NM_003098.3(SNTA1):c.1486G>C (p.Ala496Pro)	SNTA1 (A496P)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 949030	NM_003098.3(SNTA1):c.719C>T (p.Ser240Leu)	SNTA1 (S240L)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +2 more	GUncertain significance
Select item 899113	NM_003098.3(SNTA1):c.538A>G (p.Thr180Ala)	SNTA1 (T180A)	Single nucleotide variant (missense variant)	Long QT syndrome 12	GUncertain significance
Select item 899051	NM_003098.3(SNTA1):c.*132C>T	SNTA1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 12	GUncertain significance
Select item 899050	NM_003098.3(SNTA1):c.*231C>T	SNTA1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899049	NM_003098.3(SNTA1):c.*333G>A	SNTA1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 12	GUncertain significance
Select item 899048	NM_003098.3(SNTA1):c.*412G>C	SNTA1	Single nucleotide variant (3 prime UTR variant)	Long QT syndrome 12	GUncertain significance
Select item 897985	NM_003098.3(SNTA1):c.740T>G (p.Leu247Arg)	SNTA1 (L247R)	Single nucleotide variant (missense variant)	Long QT syndrome 12	GUncertain significance
Select item 897984	NM_003098.3(SNTA1):c.816G>T (p.Thr272=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 897983	NM_003098.3(SNTA1):c.817C>T (p.Pro273Ser)	SNTA1 (P273S)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 896424	NM_003098.3(SNTA1):c.-70C>A	LOC130065680, SNTA1	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 12	GUncertain significance
Select item 896423	NM_003098.3(SNTA1):c.-62C>T	LOC130065680, SNTA1	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 12	GUncertain significance
Select item 896422	NM_003098.3(SNTA1):c.-42G>A	LOC130065680, SNTA1	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 12	GUncertain significance
Select item 896366	NM_003098.3(SNTA1):c.1025C>G (p.Pro342Arg)	SNTA1 (P342R)	Single nucleotide variant (missense variant)	Long QT syndrome 12	GUncertain significance
Select item 896365	NM_003098.3(SNTA1):c.1238-14T>C	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 894981	NM_003098.3(SNTA1):c.115G>A (p.Val39Met)	LOC130065680, SNTA1 (V39M)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 894980	NM_003098.3(SNTA1):c.312C>A (p.Gly104=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 811698	NM_003098.3(SNTA1):c.459G>T (p.Gln153His)	LOC130065678, SNTA1 (Q153H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 811268	NM_003098.3(SNTA1):c.669G>A (p.Ser223=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome 12 +2 more	GLikely benign
Select item 809246	NM_003098.3(SNTA1):c.1255C>T (p.Arg419Cys)	SNTA1 (R419C)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +1 more	GUncertain significance
Select item 675720	NM_003098.2(SNTA1):c.-245C>A	LOC130065680, SNTA1	Single nucleotide variant	Long QT syndrome 12 +1 more	GLikely benign
Select item 670951	NM_003098.3(SNTA1):c.909+30T>C	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome 12 +1 more	GBenign
Select item 649723	NM_003098.3(SNTA1):c.1106G>A (p.Arg369His)	SNTA1 (R369H)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 632994	NM_003098.3(SNTA1):c.1425+1G>A	SNTA1	Single nucleotide variant (splice donor variant)	not specified +3 more	GUncertain significance
Select item 617899	NM_003098.3(SNTA1):c.770C>T (p.Ala257Val)	SNTA1 (A257V)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +1 more	GConflicting classifications of pathogenicity
Select item 579200	NM_003098.3(SNTA1):c.1021G>A (p.Ala341Thr)	SNTA1 (A341T)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 560703	NM_003098.3(SNTA1):c.1339C>T (p.Arg447Ter)	SNTA1 (R447*)	Single nucleotide variant (nonsense)	not specified +2 more	GUncertain significance
Select item 546085	NM_003098.3(SNTA1):c.782C>T (p.Ala261Val)	SNTA1 (A261V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 526964	NM_003098.3(SNTA1):c.1147G>A (p.Val383Met)	SNTA1 (V383M)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +2 more	GUncertain significance
Select item 496194	NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn)	LOC130065680, SNTA1 (S34N)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +3 more	GUncertain significance
Select item 457079	NM_003098.3(SNTA1):c.701+10G>A	SNTA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 449724	NM_003098.3(SNTA1):c.1388T>G (p.Leu463Arg)	SNTA1 (L463R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 432866	NM_003098.3(SNTA1):c.1180C>T (p.Arg394Cys)	SNTA1 (R394C)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 431380	NM_003098.3(SNTA1):c.194A>G (p.Asn65Ser)	SNTA1 (N65S)	Single nucleotide variant (missense variant)	Long QT syndrome 12	GUncertain significance
Select item 392800	NM_003098.3(SNTA1):c.1015C>T (p.Arg339Cys)	SNTA1 (R339C)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 378631	NM_003098.3(SNTA1):c.1488C>A (p.Ala496=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 378629	NM_003098.3(SNTA1):c.210G>C (p.Pro70=)	SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 338229	NM_003098.2(SNTA1):c.-262C>T	LOC130065680, SNTA1	Single nucleotide variant	Congenital long QT syndrome +1 more	GUncertain significance
Select item 338228	NM_003098.2(SNTA1):c.-261C>A	LOC130065680, SNTA1	Single nucleotide variant	Congenital long QT syndrome +1 more	GUncertain significance
Select item 338227	NM_003098.2(SNTA1):c.-255G>C	LOC130065680, SNTA1	Single nucleotide variant	Congenital long QT syndrome +2 more	GBenign/Likely benign
Select item 338224	NM_003098.2(SNTA1):c.-186C>T	LOC130065680, SNTA1	Single nucleotide variant	Congenital long QT syndrome +1 more	GUncertain significance
Select item 338223	NM_003098.3(SNTA1):c.-96G>A	LOC130065680, SNTA1	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome +2 more	GBenign/Likely benign
Select item 338222	NM_003098.3(SNTA1):c.-96G>C	LOC130065680, SNTA1	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 338221	NM_003098.3(SNTA1):c.-18G>A	LOC130065680, SNTA1	Single nucleotide variant (5 prime UTR variant)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 338220	NM_003098.3(SNTA1):c.277G>A (p.Ala93Thr)	LOC130065679, SNTA1 (A93T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 338219	NM_003098.3(SNTA1):c.497-7C>T	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome 12 +3 more	GBenign/Likely benign
Select item 338218	NM_003098.3(SNTA1):c.514G>A (p.Val172Ile)	SNTA1 (V172I)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 338217	NM_003098.3(SNTA1):c.651G>A (p.Leu217=)	SNTA1	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 338216	NM_003098.3(SNTA1):c.993C>T (p.Arg331=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 338215	NM_003098.3(SNTA1):c.1118G>A (p.Arg373His)	SNTA1 (R373H)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 338214	NM_003098.3(SNTA1):c.1181G>A (p.Arg394His)	SNTA1 (R394H)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 338213	NM_003098.3(SNTA1):c.1205G>A (p.Arg402Gln)	SNTA1 (R402Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 338212	NM_003098.3(SNTA1):c.1238-13G>C	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome 12 +2 more	GConflicting classifications of pathogenicity
Select item 338211	NM_003098.3(SNTA1):c.1479C>T (p.Phe493=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 338210	NM_003098.3(SNTA1):c.*6G>A	SNTA1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +1 more	GUncertain significance
Select item 338209	NM_003098.3(SNTA1):c.*79C>A	SNTA1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GConflicting classifications of pathogenicity
Select item 338208	NM_003098.3(SNTA1):c.*122G>A	SNTA1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +2 more	GBenign/Likely benign
Select item 338207	NM_003098.3(SNTA1):c.*342C>T	SNTA1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +1 more	GBenign/Likely benign
Select item 338206	NM_003098.3(SNTA1):c.*343G>A	SNTA1	Single nucleotide variant (3 prime UTR variant)	Congenital long QT syndrome +1 more	GBenign/Likely benign
Select item 264348	NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln)	SNTA1 (R207Q)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 264288	NM_003098.3(SNTA1):c.619C>T (p.Arg207Trp)	SNTA1 (R207W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 264021	NM_003098.3(SNTA1):c.25C>T (p.Arg9Cys)	LOC130065680, SNTA1 (R9C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 263623	NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu)	SNTA1 (S189L)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity
Select item 263476	NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu)	SNTA1 (P74L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 263425	NM_003098.3(SNTA1):c.555C>T (p.Val185=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +5 more	GBenign/Likely benign
Select item 263424	NM_003098.3(SNTA1):c.807T>C (p.Asn269=)	SNTA1	Single nucleotide variant (synonymous variant)	Congenital long QT syndrome +4 more	GBenign/Likely benign
Select item 239498	NM_003098.3(SNTA1):c.1350C>T (p.Phe450=)	SNTA1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 220958	NM_003098.3(SNTA1):c.828G>A (p.Lys276=)	SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 215503	NM_003098.3(SNTA1):c.1426-5T>C	SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome +4 more	GBenign/Likely benign
Select item 203366	NM_003098.3(SNTA1):c.1204C>T (p.Arg402Trp)	SNTA1 (R402W)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +2 more	GUncertain significance
Select item 191576	NM_003098.3(SNTA1):c.317G>A (p.Arg106Gln)	SNTA1 (R106Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 191548	NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)	SNTA1 (A257G)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 191512	NM_003098.3(SNTA1):c.375G>C (p.Gln125His)	SNTA1 (Q125H)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +2 more	GUncertain significance
Select item 191506	NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys)	SNTA1 (R500C)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 190938	NM_003098.3(SNTA1):c.403A>C (p.Ile135Leu)	SNTA1 (I135L)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +3 more	GUncertain significance
Select item 190935	NM_003098.3(SNTA1):c.556G>A (p.Gly186Ser)	SNTA1 (G186S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 190934	NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg)	SNTA1 (G54R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 190932	NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys)	LOC130065680, SNTA1 (E14K)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +4 more	GConflicting classifications of pathogenicity
Select item 190930	NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn)	SNTA1 (T147N)	Single nucleotide variant (missense variant)	Long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 190927	NM_003098.3(SNTA1):c.1504G>A (p.Gly502Arg)	SNTA1 (G502R)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 190921	NM_003098.3(SNTA1):c.1256G>A (p.Arg419His)	SNTA1 (R419H)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +3 more	GUncertain significance
Select item 190920	NM_003098.3(SNTA1):c.1244C>T (p.Thr415Met)	SNTA1 (T415M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 190918	NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala)	SNTA1 (E363A)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +4 more	GConflicting classifications of pathogenicity
Select item 190917	NM_003098.3(SNTA1):c.992G>A (p.Arg331His)	SNTA1 (R331H)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 190914	NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser)	SNTA1 (A263S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 190912	NM_003098.3(SNTA1):c.759T>A (p.Asp253Glu)	SNTA1 (D253E)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 190910	NM_003098.3(SNTA1):c.668C>T (p.Ser223Leu)	SNTA1 (S223L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 190909	NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu)	SNTA1 (F176L)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GConflicting classifications of pathogenicity

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