PLA2G4C[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	AP2S1, ARHGAP35 +363 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
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 723608	NM_003706.3(PLA2G4C):c.1231G>A (p.Asp411Asn)	PLA2G4C, PLA2G4C-AS1 (D421N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
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 788028	NM_003706.3(PLA2G4C):c.948T>C (p.Asn316=)	PLA2G4C	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 717091	NM_003706.3(PLA2G4C):c.481C>G (p.Pro161Ala)	PLA2G4C (P161A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784834	NM_003706.3(PLA2G4C):c.399T>C (p.Ser133=)	PLA2G4C	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	BAX, BCAT2 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 254012	GRCh37/hg19 19q13.33(chr19:48345470-48575975)x3	CRX, BSPH1 +4 more	Copy number gain	See cases	GUncertain significance

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Items: 44