ClinVar for Gene (Select 10930) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2595498	NM_006789.4(APOBEC2):c.298G>A (p.Glu100Lys)	APOBEC2 (E100K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595089	NM_006789.4(APOBEC2):c.5C>A (p.Ala2Asp)	APOBEC2 (A2D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493839	NM_006789.4(APOBEC2):c.505C>G (p.Leu169Val)	APOBEC2 (L169V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400965	NM_006789.4(APOBEC2):c.34G>A (p.Glu12Lys)	APOBEC2 (E12K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391199	NM_006789.4(APOBEC2):c.643T>A (p.Tyr215Asn)	APOBEC2 (Y215N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390309	NM_006789.4(APOBEC2):c.136C>T (p.Arg46Trp)	APOBEC2 (R46W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333148	NM_006789.4(APOBEC2):c.622A>G (p.Ile208Val)	APOBEC2 (I208V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2305178	NM_006789.4(APOBEC2):c.259C>T (p.Arg87Trp)	APOBEC2 (R87W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269741	NM_006789.4(APOBEC2):c.150C>G (p.Asn50Lys)	APOBEC2 (N50K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783754	NM_006789.4(APOBEC2):c.595T>C (p.Ser199Pro)	APOBEC2 (S199P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic