Related gene-specific medical variations for Gene (Select 641372) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3481681	NM_001365788.1(ACOT6):c.1121T>C (p.Val374Ala)	ACOT6, HEATR4 (V160A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3481671	NM_001365788.1(ACOT6):c.946G>A (p.Val316Met)	ACOT6, HEATR4 (V316M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3481662	NM_001365788.1(ACOT6):c.807T>A (p.Asp269Glu)	ACOT6, HEATR4 (D55E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3481651	NM_001365788.1(ACOT6):c.1090C>T (p.Pro364Ser)	ACOT6, HEATR4 (P150S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3481640	NM_001365788.1(ACOT6):c.835C>G (p.Leu279Val)	ACOT6, HEATR4 (L65V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3481629	NM_001365788.1(ACOT6):c.1258A>C (p.Lys420Gln)	ACOT6, HEATR4 (K206Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3481618	NM_001365788.1(ACOT6):c.800A>G (p.Tyr267Cys)	ACOT6, HEATR4 (Y267C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3481609	NM_001365788.1(ACOT6):c.1033C>T (p.His345Tyr)	ACOT6, HEATR4 (H345Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3481600	NM_001365788.1(ACOT6):c.832G>C (p.Asp278His)	ACOT6, HEATR4 (D64H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262036	NM_001365788.1(ACOT6):c.1159G>A (p.Glu387Lys)	ACOT6, HEATR4 (E173K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262026	NM_001365788.1(ACOT6):c.829G>A (p.Asp277Asn)	ACOT6, HEATR4 (D63N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137925	NM_001365788.1(ACOT6):c.722T>A (p.Met241Lys)	ACOT6, HEATR4 (M241K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137862	NM_001365788.1(ACOT6):c.662T>A (p.Val221Glu)	ACOT6, HEATR4 (V221E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552965	NM_001365788.1(ACOT6):c.1171C>A (p.His391Asn)	ACOT6, HEATR4 (H177N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481527	NM_001365788.1(ACOT6):c.1086T>G (p.Ile362Met)	ACOT6, HEATR4 (I148M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457954	NM_001365788.1(ACOT6):c.863G>T (p.Gly288Val)	ACOT6, HEATR4 (G288V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370300	NM_001365788.1(ACOT6):c.704G>T (p.Gly235Val)	ACOT6, HEATR4 (G21V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336291	NM_001365788.1(ACOT6):c.1126G>A (p.Ala376Thr)	ACOT6, HEATR4 (A162T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285167	NM_001365788.1(ACOT6):c.673A>G (p.Ser225Gly)	ACOT6, HEATR4 (S225G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261317	NM_001365788.1(ACOT6):c.1199A>G (p.Gln400Arg)	ACOT6, HEATR4 (Q186R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218973	NM_001365788.1(ACOT6):c.1168G>C (p.Ala390Pro)	ACOT6, HEATR4 (A390P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 21