Related gene-specific medical variations for Gene (Select 414149) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3261407	NM_001039844.3(ACBD7):c.83A>G (p.Glu28Gly)	ACBD7, ACBD7-DCLRE1CP1 (E28G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3261397	NM_001039844.3(ACBD7):c.220G>C (p.Ala74Pro)	ACBD7, ACBD7-DCLRE1CP1 (A74P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136062	NM_001039844.3(ACBD7):c.212C>T (p.Ala71Val)	ACBD7, ACBD7-DCLRE1CP1 (A71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136060	NM_001039844.3(ACBD7):c.194G>A (p.Gly65Glu)	ACBD7, ACBD7-DCLRE1CP1 (G65E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525169	NM_001039844.3(ACBD7):c.224A>G (p.Tyr75Cys)	ACBD7, ACBD7-DCLRE1CP1 (Y75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518506	NM_001039844.3(ACBD7):c.55G>A (p.Ala19Thr)	ACBD7, ACBD7-DCLRE1CP1 (A19T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2323127	NM_001039844.3(ACBD7):c.197T>C (p.Leu66Ser)	ACBD7, ACBD7-DCLRE1CP1 (L66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226983	NM_001039844.3(ACBD7):c.259G>A (p.Gly87Arg)	ACBD7, ACBD7-DCLRE1CP1 (G87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204119	NM_001039844.3(ACBD7):c.215C>T (p.Thr72Met)	ACBD7, ACBD7-DCLRE1CP1 (T72M)	Single nucleotide variant (missense variant)	not specified	GLikely benign