PLA2G12A[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +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 3307153	NM_030821.5(PLA2G12A):c.554A>G (p.Glu185Gly)	PLA2G12A (E185G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3307154	NM_030821.5(PLA2G12A):c.373G>A (p.Asp125Asn)	PLA2G12A (D125N)	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 3307152	NM_030821.5(PLA2G12A):c.140C>T (p.Thr47Met)	PLA2G12A (T47M)	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 3246704	NC_000004.11:g.(?_110481494)_(111554154_?)dup	CASP6, CFI +9 more	Duplication	not provided	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	HPGDS, SCRG1 +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	CFAP97, CFI +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	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29