ClinVar for Gene (Select 79501) - ClinVar - NCBI

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Links from Gene

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3205582	NM_001005484.2(OR4F5):c.704T>C (p.Ile235Thr)	OR4F5 (I235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205581	NM_001005484.2(OR4F5):c.396G>A (p.Met132Ile)	OR4F5 (M132I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205580	NM_001005484.2(OR4F5):c.287T>G (p.Ile96Ser)	OR4F5 (I96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501007	GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	ACAP3, AGRN +65 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2396347	NM_001005484.2(OR4F5):c.655G>A (p.Val219Met)	OR4F5 (V219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351346	NM_001005484.2(OR4F5):c.968G>C (p.Ser323Thr)	OR4F5 (S323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288999	NM_001005484.2(OR4F5):c.742T>C (p.Ser248Pro)	OR4F5 (S248P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252161	NM_001005484.2(OR4F5):c.554C>G (p.Pro185Arg)	OR4F5 (P185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205837	NM_001005484.2(OR4F5):c.107A>G (p.Glu36Gly)	OR4F5 (E36G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 980940	GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	ACAP3, ACTRT2 +80 more	Copy number loss	not provided	GPathogenic
Select item 393899	GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3	ACAP3, C1orf174 +79 more	Copy number gain	See cases	GPathogenic