"Ambry Genetics"[submitter] AND "PLA2G4C"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2356947	NM_003706.3(PLA2G4C):c.1621G>A (p.Ala541Thr)	PLA2G4C (A541T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590651	NM_003706.3(PLA2G4C):c.1579G>A (p.Gly527Arg)	PLA2G4C (G527R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240726	NM_003706.3(PLA2G4C):c.1577C>A (p.Ala526Asp)	PLA2G4C (A526D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257708	NM_003706.3(PLA2G4C):c.1540A>G (p.Asn514Asp)	PLA2G4C (N514D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365812	NM_003706.3(PLA2G4C):c.1510T>G (p.Leu504Val)	PLA2G4C (L514V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294526	NM_003706.3(PLA2G4C):c.1440G>T (p.Glu480Asp)	PLA2G4C (E480D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371665	NM_003706.3(PLA2G4C):c.1395G>A (p.Met465Ile)	PLA2G4C (M465I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543430	NM_003706.3(PLA2G4C):c.1354A>G (p.Ser452Gly)	PLA2G4C (S452G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376299	NM_003706.3(PLA2G4C):c.1265G>A (p.Arg422Gln)	PLA2G4C (R422Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589494	NM_003706.3(PLA2G4C):c.1189G>A (p.Val397Met)	PLA2G4C, PLA2G4C-AS1 (V397M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376460	NM_003706.3(PLA2G4C):c.1160G>C (p.Gly387Ala)	PLA2G4C-AS1, PLA2G4C (G397A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598598	NM_003706.3(PLA2G4C):c.1132C>T (p.Arg378Trp)	PLA2G4C, PLA2G4C-AS1 (R378W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2310276	NM_003706.3(PLA2G4C):c.1062G>C (p.Lys354Asn)	PLA2G4C (K364N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345304	NM_003706.3(PLA2G4C):c.907G>A (p.Gly303Ser)	PLA2G4C (G313S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325402	NM_003706.3(PLA2G4C):c.889C>T (p.Pro297Ser)	PLA2G4C (P297S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331804	NM_003706.3(PLA2G4C):c.800G>A (p.Arg267Lys)	PLA2G4C (R267K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297289	NM_003706.3(PLA2G4C):c.665G>C (p.Arg222Thr)	PLA2G4C (R222T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508189	NM_003706.3(PLA2G4C):c.642C>A (p.Phe214Leu)	PLA2G4C (F224L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346244	NM_003706.3(PLA2G4C):c.637C>T (p.His213Tyr)	PLA2G4C (H213Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546560	NM_003706.3(PLA2G4C):c.611C>T (p.Ala204Val)	PLA2G4C (A214V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406177	NM_003706.3(PLA2G4C):c.542C>A (p.Pro181His)	PLA2G4C (P181H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610829	NM_003706.3(PLA2G4C):c.250T>A (p.Ser84Thr)	PLA2G4C (S94T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252046	NM_003706.3(PLA2G4C):c.248G>A (p.Gly83Glu)	PLA2G4C (G93E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245577	NM_003706.3(PLA2G4C):c.227C>T (p.Thr76Met)	PLA2G4C (T76M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404563	NM_003706.3(PLA2G4C):c.223G>A (p.Val75Ile)	PLA2G4C (V75I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319009	NM_003706.3(PLA2G4C):c.142G>T (p.Gly48Cys)	PLA2G4C (G48C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337152	NM_003706.3(PLA2G4C):c.53C>T (p.Ala18Val)	PLA2G4C (A18V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2405561	NM_003706.3(PLA2G4C):c.46G>C (p.Glu16Gln)	PLA2G4C (E16Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 28