PLA2G4F[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151339	GRCh38/hg38 15q15.1(chr15:41697762-42489559)x3	CAPN3, EHD4 +44 more	Copy number gain	See cases	GUncertain significance
Select item 57437	GRCh38/hg38 15q15.1(chr15:41865122-42329484)x3	EHD4, EHD4-AS1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 3307212	NM_213600.4(PLA2G4F):c.2531G>C (p.Arg844Pro)	PLA2G4F (R844P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223586	NM_213600.4(PLA2G4F):c.2531G>A (p.Arg844Gln)	PLA2G4F (R844Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530260	NM_213600.4(PLA2G4F):c.2519G>A (p.Arg840Gln)	PLA2G4F (R840Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401247	NM_213600.4(PLA2G4F):c.2509G>A (p.Ala837Thr)	PLA2G4F (A837T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307207	NM_213600.4(PLA2G4F):c.2504A>C (p.Gln835Pro)	PLA2G4F (Q835P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400406	NM_213600.4(PLA2G4F):c.2476A>G (p.Asn826Asp)	PLA2G4F (N826D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214179	NM_213600.4(PLA2G4F):c.2413T>C (p.Phe805Leu)	PLA2G4F (F805L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214178	NM_213600.4(PLA2G4F):c.2339G>A (p.Arg780Gln)	PLA2G4F (R780Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214177	NM_213600.4(PLA2G4F):c.2312G>A (p.Arg771His)	PLA2G4F (R771H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552835	NM_213600.4(PLA2G4F):c.2288T>C (p.Phe763Ser)	PLA2G4F (F763S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466181	NM_213600.4(PLA2G4F):c.2273C>G (p.Pro758Arg)	PLA2G4F (P758R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307208	NM_213600.4(PLA2G4F):c.2267G>A (p.Arg756His)	PLA2G4F (R756H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214176	NM_213600.4(PLA2G4F):c.2266C>T (p.Arg756Cys)	PLA2G4F (R756C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391694	NM_213600.4(PLA2G4F):c.2264C>T (p.Pro755Leu)	PLA2G4F (P755L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215941	NM_213600.4(PLA2G4F):c.2219T>A (p.Met740Lys)	PLA2G4F (M740K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623808	NM_213600.4(PLA2G4F):c.2217C>G (p.Asp739Glu)	PLA2G4F (D739E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325471	NM_213600.4(PLA2G4F):c.2206G>A (p.Gly736Ser)	PLA2G4F (G736S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352893	NM_213600.4(PLA2G4F):c.2195G>T (p.Ser732Ile)	PLA2G4F (S732I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214174	NM_213600.4(PLA2G4F):c.2186C>G (p.Pro729Arg)	PLA2G4F (P729R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262952	NM_213600.4(PLA2G4F):c.2120A>G (p.Tyr707Cys)	PLA2G4F (Y707C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551081	NM_213600.4(PLA2G4F):c.2081T>C (p.Leu694Pro)	PLA2G4F (L694P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307211	NM_213600.4(PLA2G4F):c.2060C>A (p.Ser687Tyr)	PLA2G4F (S687Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214173	NM_213600.4(PLA2G4F):c.2050G>C (p.Ala684Pro)	PLA2G4F (A684P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330513	NM_213600.4(PLA2G4F):c.2023T>G (p.Cys675Gly)	PLA2G4F (C675G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381053	NM_213600.4(PLA2G4F):c.2017C>T (p.Arg673Trp)	PLA2G4F (R673W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378863	NM_213600.4(PLA2G4F):c.2015T>A (p.Met672Lys)	PLA2G4F (M672K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645235	NM_213600.4(PLA2G4F):c.2013C>G (p.Pro671=)	PLA2G4F	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2380940	NM_213600.4(PLA2G4F):c.1999A>G (p.Asn667Asp)	PLA2G4F (N667D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278778	NM_213600.4(PLA2G4F):c.1922G>A (p.Gly641Asp)	PLA2G4F (G641D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214171	NM_213600.4(PLA2G4F):c.1903A>G (p.Ser635Gly)	PLA2G4F (S635G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307203	NM_213600.4(PLA2G4F):c.1897G>A (p.Ala633Thr)	PLA2G4F (A633T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595594	NM_213600.4(PLA2G4F):c.1885C>T (p.Arg629Cys)	PLA2G4F (R629C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214170	NM_213600.4(PLA2G4F):c.1883C>T (p.Ser628Phe)	PLA2G4F (S628F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326473	NM_213600.4(PLA2G4F):c.1841C>A (p.Pro614Gln)	PLA2G4F (P614Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359654	NM_213600.4(PLA2G4F):c.1823G>A (p.Arg608Gln)	PLA2G4F (R608Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267635	NM_213600.4(PLA2G4F):c.1818G>C (p.Arg606Ser)	PLA2G4F (R606S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460364	NM_213600.4(PLA2G4F):c.1729G>A (p.Gly577Ser)	PLA2G4F (G577S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307206	NM_213600.4(PLA2G4F):c.1646C>G (p.Pro549Arg)	PLA2G4F (P549R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214168	NM_213600.4(PLA2G4F):c.1579G>A (p.Gly527Arg)	PLA2G4F (G527R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292734	NM_213600.4(PLA2G4F):c.1562T>C (p.Val521Ala)	PLA2G4F (V521A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591046	NM_213600.4(PLA2G4F):c.1550C>T (p.Thr517Met)	PLA2G4F (T517M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307205	NM_213600.4(PLA2G4F):c.1502T>C (p.Val501Ala)	PLA2G4F (V501A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615385	NM_213600.4(PLA2G4F):c.1501G>A (p.Val501Ile)	PLA2G4F (V501I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214167	NM_213600.4(PLA2G4F):c.1460G>A (p.Arg487His)	PLA2G4F (R487H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285120	NM_213600.4(PLA2G4F):c.1454C>T (p.Ala485Val)	PLA2G4F (A485V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214166	NM_213600.4(PLA2G4F):c.1436T>G (p.Leu479Arg)	PLA2G4F (L479R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537700	NM_213600.4(PLA2G4F):c.1352G>A (p.Arg451His)	PLA2G4F (R451H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369822	NM_213600.4(PLA2G4F):c.1346G>A (p.Arg449Gln)	PLA2G4F (R449Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307210	NM_213600.4(PLA2G4F):c.1342G>A (p.Val448Ile)	PLA2G4F (V448I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205635	NM_213600.4(PLA2G4F):c.1313G>A (p.Arg438Gln)	PLA2G4F (R438Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2367150	NM_213600.4(PLA2G4F):c.1238T>A (p.Val413Glu)	PLA2G4F (V413E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387185	NM_213600.4(PLA2G4F):c.1150C>T (p.Leu384Phe)	PLA2G4F (L384F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386672	NM_213600.4(PLA2G4F):c.1147G>A (p.Gly383Ser)	PLA2G4F (G383S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460551	NM_213600.4(PLA2G4F):c.1108T>A (p.Ser370Thr)	PLA2G4F (S370T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214165	NM_213600.4(PLA2G4F):c.1100G>A (p.Arg367Gln)	PLA2G4F (R367Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223246	NM_213600.4(PLA2G4F):c.1049A>G (p.Asp350Gly)	PLA2G4F (D350G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224069	NM_213600.4(PLA2G4F):c.950G>A (p.Gly317Asp)	PLA2G4F (G317D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220647	NM_213600.4(PLA2G4F):c.926C>G (p.Ser309Cys)	PLA2G4F (S309C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362004	NM_213600.4(PLA2G4F):c.871G>A (p.Val291Met)	PLA2G4F (V291M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307209	NM_213600.4(PLA2G4F):c.869C>T (p.Ser290Phe)	PLA2G4F (S290F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214184	NM_213600.4(PLA2G4F):c.842T>C (p.Leu281Pro)	PLA2G4F (L281P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307202	NM_213600.4(PLA2G4F):c.823G>A (p.Gly275Ser)	PLA2G4F (G275S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254530	NM_213600.4(PLA2G4F):c.776G>T (p.Gly259Val)	PLA2G4F (G259V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214183	NM_213600.4(PLA2G4F):c.667C>T (p.Pro223Ser)	PLA2G4F (P223S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296388	NM_213600.4(PLA2G4F):c.635C>A (p.Ala212Asp)	PLA2G4F (A212D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349869	NM_213600.4(PLA2G4F):c.626T>A (p.Val209Glu)	PLA2G4F (V209E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528924	NM_213600.4(PLA2G4F):c.590G>A (p.Arg197Gln)	PLA2G4F (R197Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214182	NM_213600.4(PLA2G4F):c.589C>T (p.Arg197Trp)	PLA2G4F (R197W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312176	NM_213600.4(PLA2G4F):c.500C>G (p.Pro167Arg)	PLA2G4F (P167R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214181	NM_213600.4(PLA2G4F):c.482T>C (p.Leu161Pro)	PLA2G4F (L161P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214180	NM_213600.4(PLA2G4F):c.470T>C (p.Val157Ala)	PLA2G4F (V157A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358305	NM_213600.4(PLA2G4F):c.452A>C (p.Asp151Ala)	PLA2G4F (D151A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490708	NM_213600.4(PLA2G4F):c.415C>A (p.Gln139Lys)	PLA2G4F (Q139K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381912	NM_213600.4(PLA2G4F):c.401G>T (p.Ser134Ile)	PLA2G4F (S134I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295283	NM_213600.4(PLA2G4F):c.310G>A (p.Gly104Ser)	PLA2G4F (G104S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363088	NM_213600.4(PLA2G4F):c.277G>A (p.Glu93Lys)	PLA2G4F (E93K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214175	NM_213600.4(PLA2G4F):c.224C>T (p.Thr75Met)	PLA2G4F (T75M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262145	NM_213600.4(PLA2G4F):c.200G>T (p.Cys67Phe)	PLA2G4F (C67F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214172	NM_213600.4(PLA2G4F):c.196G>A (p.Asp66Asn)	PLA2G4F (D66N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299703	NM_213600.4(PLA2G4F):c.58G>T (p.Ala20Ser)	PLA2G4F (A20S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307204	NM_213600.4(PLA2G4F):c.31G>T (p.Ala11Ser)	PLA2G4F (A11S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980031	GRCh37/hg19 15q15.1(chr15:41869275-42484890)x3	MGA, PLA2G4F +9 more	Copy number gain	not provided	GLikely benign
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

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Items: 93