LOC130065679[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 3223118	NM_003098.3(SNTA1):c.308A>G (p.Lys103Arg)	LOC130065679, SNTA1 (K103R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1098040	NM_003098.3(SNTA1):c.292C>T (p.Leu98=)	LOC130065679, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
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 190907	NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala)	LOC130065679, SNTA1 (G96A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 190906	NM_003098.3(SNTA1):c.280G>C (p.Asp94His)	LOC130065679, SNTA1 (D94H)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 1147833	NM_003098.3(SNTA1):c.279C>A (p.Ala93=)	LOC130065679, SNTA1	Single nucleotide variant (synonymous variant)	Long QT syndrome +1 more	GLikely benign
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 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 2881314	NM_003098.3(SNTA1):c.273dup (p.Lys92fs)	LOC130065679, SNTA1 (K92fs)	Duplication (frameshift variant)	Long QT syndrome	GUncertain significance
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 2447606	NM_003098.3(SNTA1):c.267G>T (p.Thr89=)	LOC130065679, SNTA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 190905	NM_003098.3(SNTA1):c.259C>A (p.Arg87Ser)	LOC130065679, SNTA1 (R87S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2691707	NM_003098.3(SNTA1):c.256C>T (p.Arg86Cys)	LOC130065679, SNTA1 (R86C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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

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Items: 21