ClinVar for Gene (Select 5321) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380242	NM_024420.3(PLA2G4A):c.1912A>G (p.Ile638Val)	PLA2G4A (I578V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380238	NM_024420.3(PLA2G4A):c.1402A>G (p.Met468Val)	PLA2G4A (M408V +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 3352391	NM_024420.3(PLA2G4A):c.1961-5T>C	PLA2G4A	Single nucleotide variant (intron variant)	PLA2G4A-related disorder	GLikely benign
Select item 3307174	NM_024420.3(PLA2G4A):c.2227T>C (p.Phe743Leu)	PLA2G4A (F743L +1 more)	Single nucleotide variant (missense variant)	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 3214089	NM_024420.3(PLA2G4A):c.2138T>A (p.Val713Asp)	PLA2G4A (V653D +1 more)	Single nucleotide variant (missense variant)	not specified	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 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
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 3039952	NM_024420.3(PLA2G4A):c.888G>A (p.Gly296=)	PLA2G4A	Single nucleotide variant (synonymous variant)	PLA2G4A-related disorder	GLikely benign
Select item 3023971	NM_024420.3(PLA2G4A):c.1128A>T (p.Thr376=)	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 3015373	NM_024420.3(PLA2G4A):c.1337-8T>G	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3006827	NM_024420.3(PLA2G4A):c.1503T>C (p.Ser501=)	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 3001343	NM_024420.3(PLA2G4A):c.948G>A (p.Lys316=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994050	NM_024420.3(PLA2G4A):c.1580-11_1580-10del	PLA2G4A	Deletion (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 2992502	NM_024420.3(PLA2G4A):c.1281G>A (p.Lys427=)	LOC129388668, 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 2986537	NM_024420.3(PLA2G4A):c.1034-19G>A	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977233	NM_024420.3(PLA2G4A):c.1500A>G (p.Thr500=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967626	NM_024420.3(PLA2G4A):c.1830T>C (p.Tyr610=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964741	NM_024420.3(PLA2G4A):c.1579+20T>C	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962375	NM_024420.3(PLA2G4A):c.1033+15T>C	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 2958434	NM_024420.3(PLA2G4A):c.648A>T (p.Gly216=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912016	NM_024420.3(PLA2G4A):c.1497T>C (p.Asn499=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2904448	NM_024420.3(PLA2G4A):c.669C>T (p.Tyr223=)	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 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 2885964	NM_024420.3(PLA2G4A):c.1218C>T (p.Gly406=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885878	NM_024420.3(PLA2G4A):c.1310_1312del (p.Ser437_Asp438delinsAsn)	LOC129388668, PLA2G4A	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2885001	NM_024420.3(PLA2G4A):c.1961-6A>G	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 2877897	NM_024420.3(PLA2G4A):c.116-7T>C	PLA2G4A	Single nucleotide variant (intron variant)	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 2857956	NM_024420.3(PLA2G4A):c.624G>A (p.Val208=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848873	NM_024420.3(PLA2G4A):c.1671G>C (p.Pro557=)	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 2812606	NM_024420.3(PLA2G4A):c.919-14T>A	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809328	NM_024420.3(PLA2G4A):c.115+16T>C	PLA2G4A	Single nucleotide variant (intron 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 2799268	NM_024420.3(PLA2G4A):c.1143T>C (p.Tyr381=)	PLA2G4A	Single nucleotide variant (synonymous 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 2790854	NM_024420.3(PLA2G4A):c.235T>C (p.Leu79=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786271	NM_024420.3(PLA2G4A):c.1891G>A (p.Glu631Lys)	PLA2G4A (E631K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781857	NM_024420.3(PLA2G4A):c.1261T>C (p.Leu421=)	PLA2G4A	Single nucleotide variant (synonymous 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 2760460	NM_024420.3(PLA2G4A):c.1383del (p.Ala462fs)	PLA2G4A (A402fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2739636	NM_024420.3(PLA2G4A):c.651T>C (p.Ile217=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	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 2712433	NM_024420.3(PLA2G4A):c.15T>C (p.Asp5=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2710855	NM_024420.3(PLA2G4A):c.645A>G (p.Ser215=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709078	NM_024420.3(PLA2G4A):c.1416G>A (p.Leu472=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700452	NM_024420.3(PLA2G4A):c.759A>G (p.Glu253=)	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 2608845	NM_024420.3(PLA2G4A):c.1496A>G (p.Asn499Ser)	PLA2G4A (N499S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575496	NM_024420.3(PLA2G4A):c.1598G>A (p.Arg533Gln)	PLA2G4A (R473Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548804	NM_024420.3(PLA2G4A):c.1582C>T (p.Pro528Ser)	PLA2G4A (P528S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2426819	NC_000001.10:g.(?_185703912)_(186957640_?)dup	HMCN1, OCLM +6 more	Duplication	not provided	GUncertain significance
Select item 2395543	NM_024420.3(PLA2G4A):c.1531G>A (p.Ala511Thr)	PLA2G4A (A511T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 2315129	NM_024420.3(PLA2G4A):c.2174G>T (p.Arg725Leu)	PLA2G4A (R725L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2284884	NM_024420.3(PLA2G4A):c.1585G>A (p.Asp529Asn)	PLA2G4A (D469N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242163	NM_024420.3(PLA2G4A):c.1799A>G (p.Asn600Ser)	PLA2G4A (N600S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2185331	NM_024420.3(PLA2G4A):c.2241C>T (p.Pro747=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	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 2128966	NM_024420.3(PLA2G4A):c.303T>C (p.Thr101=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113058	NM_024420.3(PLA2G4A):c.1952G>A (p.Arg651Lys)	PLA2G4A (R591K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2085338	NM_024420.3(PLA2G4A):c.450G>A (p.Leu150=)	PLA2G4A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2082690	NM_024420.3(PLA2G4A):c.1188C>A (p.Ala396=)	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 2065379	NM_024420.3(PLA2G4A):c.2128G>A (p.Glu710Lys)	PLA2G4A (E650K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064033	NM_024420.3(PLA2G4A):c.115+4_115+5dup	PLA2G4A	Duplication (intron variant)	not provided	GUncertain significance
Select item 2057214	NM_024420.3(PLA2G4A):c.1437C>G (p.Phe479Leu)	PLA2G4A (F479L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2056001	NM_024420.3(PLA2G4A):c.1989A>G (p.Lys663=)	PLA2G4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2056000	NM_024420.3(PLA2G4A):c.1960+4A>C	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GBenign
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 2052633	NM_024420.3(PLA2G4A):c.1509A>G (p.Pro503=)	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 2046836	NM_024420.3(PLA2G4A):c.115+7G>A	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2024545	NM_024420.3(PLA2G4A):c.417-17T>A	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019729	NM_024420.3(PLA2G4A):c.1336+3G>A	LOC129388668, PLA2G4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2009573	NM_024420.3(PLA2G4A):c.966A>T (p.Ala322=)	PLA2G4A	Single nucleotide variant (synonymous 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 2005807	NM_024420.3(PLA2G4A):c.1683A>G (p.Ile561Met)	PLA2G4A (I501M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005314	NM_024420.3(PLA2G4A):c.1034-13A>T	PLA2G4A	Single nucleotide variant (intron variant)	not provided	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 1987244	NM_024420.3(PLA2G4A):c.2118+11C>T	PLA2G4A	Single nucleotide variant (intron variant)	not provided	GLikely benign

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