APOBEC2[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	LOC129996415, LOC129996416 +435 more	Copy number loss	See cases	GPathogenic
Select item 2595089	NM_006789.4(APOBEC2):c.5C>A (p.Ala2Asp)	APOBEC2 (A2D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127933	NM_006789.4(APOBEC2):c.23C>T (p.Ala8Val)	APOBEC2 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400965	NM_006789.4(APOBEC2):c.34G>A (p.Glu12Lys)	APOBEC2 (E12K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390309	NM_006789.4(APOBEC2):c.136C>T (p.Arg46Trp)	APOBEC2 (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269741	NM_006789.4(APOBEC2):c.150C>G (p.Asn50Lys)	APOBEC2 (N50K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305178	NM_006789.4(APOBEC2):c.259C>T (p.Arg87Trp)	APOBEC2 (R87W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595498	NM_006789.4(APOBEC2):c.298G>A (p.Glu100Lys)	APOBEC2 (E100K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127934	NM_006789.4(APOBEC2):c.346C>T (p.Arg116Trp)	APOBEC2 (R116W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127935	NM_006789.4(APOBEC2):c.363G>C (p.Trp121Cys)	APOBEC2 (W121C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493839	NM_006789.4(APOBEC2):c.505C>G (p.Leu169Val)	APOBEC2 (L169V)	Single nucleotide variant (missense variant)	not specified	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 3127936	NM_006789.4(APOBEC2):c.608A>G (p.Gln203Arg)	APOBEC2 (Q203R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333148	NM_006789.4(APOBEC2):c.622A>G (p.Ile208Val)	APOBEC2 (I208V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391199	NM_006789.4(APOBEC2):c.643T>A (p.Tyr215Asn)	APOBEC2 (Y215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681305	NM_006789.4(APOBEC2):c.646G>A (p.Glu216Lys)	APOBEC2 (E216K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 21