Related gene-specific medical variations for Gene (Select 6640) - ClinVar

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Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2999955	NM_003098.3(SNTA1):c.272G>T (p.Arg91Leu)	LOC130065679, SNTA1 (R91L)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2983528	NM_003098.3(SNTA1):c.47G>C (p.Arg16Pro)	LOC130065680, SNTA1 (R16P)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2881314	NM_003098.3(SNTA1):c.273dup (p.Lys92fs)	LOC130065679, SNTA1 (K92fs)	Duplication (frameshift variant)	Long QT syndrome	GUncertain significance
Select item 2697048	NM_003098.3(SNTA1):c.89G>A (p.Arg30Gln)	SNTA1, LOC130065680 (R30Q)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2691707	NM_003098.3(SNTA1):c.256C>T (p.Arg86Cys)	LOC130065679, SNTA1 (R86C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629505	NM_003098.3(SNTA1):c.62C>T (p.Ser21Leu)	LOC130065680, SNTA1 (S21L)	Single nucleotide variant (missense variant)	SNTA1-related condition	GUncertain significance
Select item 2609472	NM_003098.3(SNTA1):c.112G>A (p.Asp38Asn)	LOC130065680, SNTA1 (D38N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2447606	NM_003098.3(SNTA1):c.267G>T (p.Thr89=)	LOC130065679, SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 2428877	NM_003098.3(SNTA1):c.289G>C (p.Gly97Arg)	LOC130065679, SNTA1 (G97R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2333972	NM_003098.3(SNTA1):c.98T>C (p.Leu33Pro)	LOC130065680, SNTA1 (L33P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2179883	NM_003098.3(SNTA1):c.77A>G (p.Glu26Gly)	LOC130065680, SNTA1 (E26G)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2163264	NM_003098.3(SNTA1):c.20C>T (p.Ala7Val)	LOC130065680, SNTA1 (A7V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2142642	NM_003098.3(SNTA1):c.124G>T (p.Val42Leu)	LOC130065680, SNTA1 (V42L)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 2051090	NM_003098.3(SNTA1):c.496+7A>G	LOC130065678, SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2011373	NM_003098.3(SNTA1):c.32G>T (p.Gly11Val)	LOC130065680, SNTA1 (G11V)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1956844	NM_003098.3(SNTA1):c.275A>G (p.Lys92Arg)	LOC130065679, SNTA1 (K92R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1899259	NM_003098.3(SNTA1):c.75C>T (p.Gly25=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1799247	NM_003098.3(SNTA1):c.304dup (p.Ile102fs)	LOC130065679, SNTA1 (I102fs)	Duplication (frameshift variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1797040	NM_003098.3(SNTA1):c.286G>A (p.Gly96Ser)	LOC130065679, SNTA1 (G96S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1796173	NM_003098.3(SNTA1):c.27C>T (p.Arg9=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1770790	NM_003098.3(SNTA1):c.135C>T (p.Ala45=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1770323	NM_003098.3(SNTA1):c.133G>A (p.Ala45Thr)	LOC130065680, SNTA1 (A45T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1767157	NM_003098.3(SNTA1):c.94C>A (p.Leu32Met)	LOC130065680, SNTA1 (L32M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1742950	NM_003098.3(SNTA1):c.476G>A (p.Gly159Asp)	LOC130065678, SNTA1 (G159D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1739539	NM_003098.3(SNTA1):c.42G>A (p.Glu14=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 1727601	NM_003098.3(SNTA1):c.30C>G (p.Thr10=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1549124	NM_003098.3(SNTA1):c.57G>T (p.Ala19=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1507973	NM_003098.3(SNTA1):c.49G>A (p.Ala17Thr)	LOC130065680, SNTA1 (A17T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1507262	NM_003098.3(SNTA1):c.10G>T (p.Gly4Cys)	LOC130065680, SNTA1 (G4C)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1485538	NM_003098.3(SNTA1):c.77A>C (p.Glu26Ala)	LOC130065680, SNTA1 (E26A)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 1416506	NM_003098.3(SNTA1):c.473C>T (p.Thr158Ile)	LOC130065678, SNTA1 (T158I)	Single nucleotide variant (missense variant)	Long QT syndrome +1 more	GUncertain significance
Select item 1309735	NM_003098.3(SNTA1):c.467A>G (p.Lys156Arg)	LOC130065678, SNTA1 (K156R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1261424	NM_003098.3(SNTA1):c.32G>C (p.Gly11Ala)	LOC130065680, SNTA1 (G11A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1215994	NM_003098.3(SNTA1):c.54G>A (p.Gly18=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1147833	NM_003098.3(SNTA1):c.279C>A (p.Ala93=)	LOC130065679, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +2 more	GLikely benign
Select item 1134679	NM_003098.3(SNTA1):c.36G>C (p.Leu12=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1129287	NM_003098.3(SNTA1):c.123C>T (p.Thr41=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1122106	NM_003098.3(SNTA1):c.34C>T (p.Leu12=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1098040	NM_003098.3(SNTA1):c.292C>T (p.Leu98=)	LOC130065679, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 1077545	NM_003098.3(SNTA1):c.255G>C (p.Arg85=)	LOC130065679, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 978375	NM_003098.3(SNTA1):c.-6G>A	LOC130065680, SNTA1	Single nucleotide variant (5 prime UTR variant)	Long QT syndrome 1	GUncertain significance
Select item 942836	NM_003098.3(SNTA1):c.60C>T (p.Gly20=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GConflicting classifications of pathogenicity
Select item 940665	NM_003098.3(SNTA1):c.496+3A>G	LOC130065678, SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	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 894981	NM_003098.3(SNTA1):c.115G>A (p.Val39Met)	LOC130065680, SNTA1 (V39M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 838414	NM_003098.3(SNTA1):c.130C>T (p.Pro44Ser)	LOC130065680, SNTA1 (P44S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 811698	NM_003098.3(SNTA1):c.459G>T (p.Gln153His)	LOC130065678, SNTA1 (Q153H)	Single nucleotide variant (missense variant)	Long QT syndrome 12 +1 more	GUncertain significance
Select item 699388	NM_003098.3(SNTA1):c.13A>C (p.Arg5=)	SNTA1, LOC130065680	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
Select item 519527	NM_003098.3(SNTA1):c.-3_6del (p.Met1_Ala2del)	LOC130065680, SNTA1	Deletion (inframe_deletion +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 519326	NM_003098.3(SNTA1):c.114C>T (p.Asp38=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 516868	NM_003098.3(SNTA1):c.51C>T (p.Ala17=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 516680	NM_003098.3(SNTA1):c.-32G>A	SNTA1, LOC130065680	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 506619	NM_003098.3(SNTA1):c.141C>T (p.Gly47=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 496194	NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn)	LOC130065680, SNTA1 (S34N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 449280	NM_003098.3(SNTA1):c.114C>A (p.Asp38Glu)	LOC130065680, SNTA1 (D38E)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 449133	NM_003098.3(SNTA1):c.23C>T (p.Pro8Leu)	LOC130065680, SNTA1 (P8L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 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 430498	NM_003098.3(SNTA1):c.52G>A (p.Gly18Arg)	LOC130065680, SNTA1 (G18R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381103	NM_003098.3(SNTA1):c.129C>T (p.Ser43=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 379036	NM_003098.3(SNTA1):c.117G>A (p.Val39=)	LOC130065680, SNTA1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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)	Congenital long QT syndrome +2 more	GUncertain significance
Select item 264021	NM_003098.3(SNTA1):c.25C>T (p.Arg9Cys)	LOC130065680, SNTA1 (R9C)	Single nucleotide variant (missense variant)	Long QT syndrome +3 more	GUncertain significance
Select item 191511	NM_003098.3(SNTA1):c.460G>A (p.Val154Ile)	SNTA1, LOC130065678 (V154I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 190933	NM_003098.3(SNTA1):c.70G>A (p.Gly24Ser)	LOC130065680, SNTA1 (G24S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 190932	NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys)	LOC130065680, SNTA1 (E14K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 190931	NM_003098.3(SNTA1):c.16C>T (p.Arg6Cys)	LOC130065680, SNTA1 (R6C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 190907	NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala)	LOC130065679, SNTA1 (G96A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 190906	NM_003098.3(SNTA1):c.280G>C (p.Asp94His)	LOC130065679, SNTA1 (D94H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 190905	NM_003098.3(SNTA1):c.259C>A (p.Arg87Ser)	LOC130065679, SNTA1 (R87S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 190903	NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn)	LOC130065680, SNTA1 (S43N)	Single nucleotide variant (missense variant)	Congenital long QT syndrome +4 more	GConflicting classifications of pathogenicity
Select item 190902	NM_003098.3(SNTA1):c.22C>G (p.Pro8Ala)	SNTA1, LOC130065680 (P8A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 77