PLA2G4A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 149055	GRCh38/hg38 1q31.1(chr1:185959703-187743891)x3	PLA2G4A, PRG4 +32 more	Copy number gain	See cases	GUncertain significance
Select item 154645	GRCh38/hg38 1q31.1(chr1:185977899-187712734)x3	HMCN1, LINC01036 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2712433	NM_024420.3(PLA2G4A):c.15T>C (p.Asp5=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900330	NM_024420.3(PLA2G4A):c.33+20T>C	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3053079	NM_024420.3(PLA2G4A):c.63G>A (p.Thr21=)	PLA2G4A	Single nucleotide variant (synonymous variant)	PLA2G4A-related disorder	GLikely benign
Select item 2184712	NM_024420.3(PLA2G4A):c.77G>A (p.Arg26His)	PLA2G4A (R26H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890428	NM_024420.3(PLA2G4A):c.100G>A (p.Ala34Thr)	PLA2G4A (A34T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2064033	NM_024420.3(PLA2G4A):c.115+4_115+5dup	PLA2G4A	Duplication (intron variant)	not provided	GUncertain significance
Select item 2046836	NM_024420.3(PLA2G4A):c.115+7G>A	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914500	NM_024420.3(PLA2G4A):c.115+17dup	PLA2G4A	Duplication (intron variant)	not provided	GBenign
Select item 762402	NM_024420.3(PLA2G4A):c.115+10C>G	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895556	NM_024420.3(PLA2G4A):c.115+13T>A	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2809328	NM_024420.3(PLA2G4A):c.115+16T>C	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915868	NM_024420.3(PLA2G4A):c.115+16T>A	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877897	NM_024420.3(PLA2G4A):c.116-7T>C	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776964	NM_024420.3(PLA2G4A):c.165C>G (p.Asp55Glu)	PLA2G4A (D55E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3214088	NM_024420.3(PLA2G4A):c.200T>C (p.Ile67Thr)	PLA2G4A (I67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2790854	NM_024420.3(PLA2G4A):c.235T>C (p.Leu79=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741451	NM_024420.3(PLA2G4A):c.246T>C (p.Asn82=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046922	NM_024420.3(PLA2G4A):c.264+8A>G	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2008715	NM_024420.3(PLA2G4A):c.293T>C (p.Met98Thr)	PLA2G4A (M98T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128966	NM_024420.3(PLA2G4A):c.303T>C (p.Thr101=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006281	NM_024420.3(PLA2G4A):c.309G>C (p.Gly103=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2055458	NM_024420.3(PLA2G4A):c.322A>T (p.Thr108Ser)	PLA2G4A (T108S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 9079	NM_024420.3(PLA2G4A):c.331T>C (p.Ser111Pro)	PLA2G4A (S111P)	Single nucleotide variant (missense variant)	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	GPathogenic
Select item 734303	NM_024420.3(PLA2G4A):c.355G>A (p.Glu119Lys)	PLA2G4A (E119K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2296907	NM_024420.3(PLA2G4A):c.390G>C (p.Met130Ile)	PLA2G4A (M130I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2024545	NM_024420.3(PLA2G4A):c.417-17T>A	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2320297	NM_024420.3(PLA2G4A):c.419C>T (p.Ser140Leu)	PLA2G4A (S140L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2085338	NM_024420.3(PLA2G4A):c.450G>A (p.Leu150=)	PLA2G4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876022	NM_024420.3(PLA2G4A):c.452G>A (p.Cys151Tyr)	PLA2G4A (C151Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 807464	NM_024420.3(PLA2G4A):c.494dup (p.Arg166fs)	PLA2G4A (R166fs)	Duplication (frameshift variant +1 more)	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	GPathogenic
Select item 2338307	NM_024420.3(PLA2G4A):c.506T>A (p.Met169Lys)	PLA2G4A (M169K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3214090	NM_024420.3(PLA2G4A):c.544C>A (p.His182Asn)	PLA2G4A (H182N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1989962	NM_024420.3(PLA2G4A):c.559-17C>T	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992749	NM_024420.3(PLA2G4A):c.559-12G>A	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2094970	NM_024420.3(PLA2G4A):c.569T>C (p.Val190Ala)	PLA2G4A (V130A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362555	NM_024420.3(PLA2G4A):c.607del (p.Val203fs)	PLA2G4A (V143fs +1 more)	Deletion (frameshift variant)	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	GLikely pathogenic
Select item 2857956	NM_024420.3(PLA2G4A):c.624G>A (p.Val208=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080114	NM_024420.3(PLA2G4A):c.626T>C (p.Met209Thr)	PLA2G4A (M149T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075592	NM_024420.3(PLA2G4A):c.637T>C (p.Tyr213His)	PLA2G4A (Y213H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2710855	NM_024420.3(PLA2G4A):c.645A>G (p.Ser215=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958434	NM_024420.3(PLA2G4A):c.648A>T (p.Gly216=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739636	NM_024420.3(PLA2G4A):c.651T>C (p.Ile217=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904448	NM_024420.3(PLA2G4A):c.669C>T (p.Tyr223=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738215	NM_024420.3(PLA2G4A):c.670G>A (p.Val224Ile)	PLA2G4A (V224I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1924001	NM_024420.3(PLA2G4A):c.687C>G (p.Gly229=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022235	NM_024420.3(PLA2G4A):c.696-20G>A	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2546863	NM_024420.3(PLA2G4A):c.703T>A (p.Ser235Thr)	PLA2G4A (S175T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1919137	NM_024420.3(PLA2G4A):c.720C>T (p.His240=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2700452	NM_024420.3(PLA2G4A):c.759A>G (p.Glu253=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919706	NM_024420.3(PLA2G4A):c.764del (p.Leu255fs)	PLA2G4A (L195fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3039952	NM_024420.3(PLA2G4A):c.888G>A (p.Gly296=)	PLA2G4A	Single nucleotide variant (synonymous variant)	PLA2G4A-related disorder	GLikely benign
Select item 2722563	NM_024420.3(PLA2G4A):c.906A>C (p.Thr302=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938831	NM_024420.3(PLA2G4A):c.918+19T>G	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2812606	NM_024420.3(PLA2G4A):c.919-14T>A	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001343	NM_024420.3(PLA2G4A):c.948G>A (p.Lys316=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009573	NM_024420.3(PLA2G4A):c.966A>T (p.Ala322=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743099	NM_024420.3(PLA2G4A):c.1011C>T (p.Asp337=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2962375	NM_024420.3(PLA2G4A):c.1033+15T>C	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986537	NM_024420.3(PLA2G4A):c.1034-19G>A	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2005314	NM_024420.3(PLA2G4A):c.1034-13A>T	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2520138	NM_024420.3(PLA2G4A):c.1090G>A (p.Ala364Thr)	PLA2G4A (A364T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380235	NM_024420.3(PLA2G4A):c.1091C>T (p.Ala364Val)	PLA2G4A (A304V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3023971	NM_024420.3(PLA2G4A):c.1128A>T (p.Thr376=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932064	NM_024420.3(PLA2G4A):c.1129G>A (p.Val377Ile)	PLA2G4A (V317I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979743	NM_024420.3(PLA2G4A):c.1131C>T (p.Val377=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799268	NM_024420.3(PLA2G4A):c.1143T>C (p.Tyr381=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801139	NM_024420.3(PLA2G4A):c.1148A>G (p.Glu383Gly)	PLA2G4A (E323G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082690	NM_024420.3(PLA2G4A):c.1188C>A (p.Ala396=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885964	NM_024420.3(PLA2G4A):c.1218C>T (p.Gly406=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892340	NM_024420.3(PLA2G4A):c.1224T>C (p.Ser408=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841588	NM_024420.3(PLA2G4A):c.1230A>C (p.Ser410=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987426	NM_024420.3(PLA2G4A):c.1251G>A (p.Met417Ile)	PLA2G4A (M417I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014955	NM_024420.3(PLA2G4A):c.1258G>C (p.Glu420Gln)	PLA2G4A (E360Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2781857	NM_024420.3(PLA2G4A):c.1261T>C (p.Leu421=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1916329	NM_024420.3(PLA2G4A):c.1264+11G>T	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962238	NM_024420.3(PLA2G4A):c.1264+17C>T	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992502	NM_024420.3(PLA2G4A):c.1281G>A (p.Lys427=)	LOC129388668, PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618992	NM_024420.3(PLA2G4A):c.1291A>C (p.Ser431Arg)	LOC129388668, PLA2G4A (S371R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1985126	NM_024420.3(PLA2G4A):c.1295A>G (p.Asn432Ser)	LOC129388668, PLA2G4A (N372S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2906548	NM_024420.3(PLA2G4A):c.1304C>T (p.Ser435Leu)	LOC129388668, PLA2G4A (S375L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885878	NM_024420.3(PLA2G4A):c.1310_1312del (p.Ser437_Asp438delinsAsn)	LOC129388668, PLA2G4A	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2019729	NM_024420.3(PLA2G4A):c.1336+3G>A	LOC129388668, PLA2G4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1953198	NM_024420.3(PLA2G4A):c.1336+11C>T	LOC129388668, PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880637	NM_024420.3(PLA2G4A):c.1336+12G>A	LOC129388668, PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1901295	NM_024420.3(PLA2G4A):c.1336+13G>C	LOC129388668, PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792598	NM_024420.3(PLA2G4A):c.1336+16A>C	LOC129388668, PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915140	NM_024420.3(PLA2G4A):c.1337-17C>T	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015373	NM_024420.3(PLA2G4A):c.1337-8T>G	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 767738	NM_024420.3(PLA2G4A):c.1380T>C (p.Asn460=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2760460	NM_024420.3(PLA2G4A):c.1383del (p.Ala462fs)	PLA2G4A (A402fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2709078	NM_024420.3(PLA2G4A):c.1416G>A (p.Leu472=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057214	NM_024420.3(PLA2G4A):c.1437C>G (p.Phe479Leu)	PLA2G4A (F479L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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