LOC130065678[gene] - ClinVar - NCBI

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

Search results

Items: 12

	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 2051090	NM_003098.3(SNTA1):c.496+7A>G	LOC130065678, SNTA1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
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 1742950	NM_003098.3(SNTA1):c.476G>A (p.Gly159Asp)	LOC130065678, SNTA1 (G159D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 191511	NM_003098.3(SNTA1):c.460G>A (p.Val154Ile)	SNTA1, LOC130065678 (V154I)	Single nucleotide variant (missense 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