PLA2G12A[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 2511986	NM_030821.5(PLA2G12A):c.490A>G (p.Ile164Val)	PLA2G12A (I164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595360	NM_030821.5(PLA2G12A):c.437C>T (p.Thr146Ile)	PLA2G12A (T146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557698	NM_030821.5(PLA2G12A):c.392G>T (p.Cys131Phe)	PLA2G12A (C131F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228243	NM_030821.5(PLA2G12A):c.351T>G (p.Cys117Trp)	PLA2G12A (C117W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214050	NM_030821.5(PLA2G12A):c.315G>C (p.Lys105Asn)	PLA2G12A (K105N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615643	NM_030821.5(PLA2G12A):c.292A>G (p.Ile98Val)	PLA2G12A (I98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509189	NM_030821.5(PLA2G12A):c.290A>G (p.Asn97Ser)	PLA2G12A (N97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526929	NM_030821.5(PLA2G12A):c.239A>G (p.Lys80Arg)	PLA2G12A (K80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479739	NM_030821.5(PLA2G12A):c.226C>T (p.Arg76Cys)	PLA2G12A (R76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553708	NM_030821.5(PLA2G12A):c.178G>A (p.Asp60Asn)	PLA2G12A (D60N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271709	NM_030821.5(PLA2G12A):c.162C>G (p.Asp54Glu)	PLA2G12A (D54E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361310	NM_030821.5(PLA2G12A):c.160G>A (p.Asp54Asn)	PLA2G12A (D54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457745	NM_030821.5(PLA2G12A):c.17G>T (p.Arg6Leu)	PLA2G12A (R6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 686808	GRCh37/hg19 4q25(chr4:110386827-110660498)x3	CASP6, MCUB +2 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	AADAT, ABCE1 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic

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Items: 25