ClinVar for Gene (Select 5322) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 134

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307213	NM_000929.3(PLA2G5):c.335G>T (p.Arg112Leu)	PLA2G5 (R112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247903	NC_000001.10:g.(?_20411324)_(20417185_?)dup	PLA2G5	Duplication	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 3021090	NM_000929.3(PLA2G5):c.132C>T (p.Tyr44=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006719	NM_000929.3(PLA2G5):c.249A>C (p.Thr83=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995786	NM_000929.3(PLA2G5):c.186-19A>C	PLA2G5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982397	NM_000929.3(PLA2G5):c.292+13C>T	PLA2G5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966542	NM_000929.3(PLA2G5):c.276G>A (p.Trp92Ter)	PLA2G5 (W92*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2956088	NM_000929.3(PLA2G5):c.343G>A (p.Val115Ile)	PLA2G5 (V115I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901678	NM_000929.3(PLA2G5):c.280G>C (p.Val94Leu)	PLA2G5 (V94L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881969	NM_000929.3(PLA2G5):c.61G>C (p.Gly21Arg)	PLA2G5 (G21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867161	NM_000929.3(PLA2G5):c.8_9delinsCT (p.Gly3Ala)	PLA2G5 (G3A)	Indel (missense variant)	not provided	GUncertain significance
Select item 2853329	NM_000929.3(PLA2G5):c.173A>G (p.Asp58Gly)	PLA2G5 (D58G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815258	NM_000929.3(PLA2G5):c.199C>T (p.His67Tyr)	PLA2G5 (H67Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812524	NM_000929.3(PLA2G5):c.47C>T (p.Pro16Leu)	PLA2G5 (P16L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808541	NC_000001.11:g.20089789del	PLA2G5	Deletion	not provided	GUncertain significance
Select item 2711590	NM_000929.3(PLA2G5):c.273G>A (p.Ala91=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2291125	NM_000929.3(PLA2G5):c.298G>A (p.Gly100Arg)	PLA2G5 (G100R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2202709	NM_000929.3(PLA2G5):c.181G>A (p.Asp61Asn)	PLA2G5 (D61N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129450	NM_000929.3(PLA2G5):c.41-7C>T	PLA2G5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2123472	NM_000929.3(PLA2G5):c.416A>G (p.Ter139Trp)	PLA2G5	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2122789	NM_000929.3(PLA2G5):c.40+20C>T	PLA2G5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2120527	NM_000929.3(PLA2G5):c.293-9C>T	PLA2G5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2115241	NM_000929.3(PLA2G5):c.155G>A (p.Gly52Asp)	PLA2G5 (G52D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101638	NM_000929.3(PLA2G5):c.371G>A (p.Ser124Asn)	PLA2G5 (S124N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087118	NM_000929.3(PLA2G5):c.185+7T>G	PLA2G5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2080672	NM_000929.3(PLA2G5):c.158G>A (p.Arg53Gln)	PLA2G5 (R53Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079267	NM_000929.3(PLA2G5):c.188G>A (p.Cys63Tyr)	PLA2G5 (C63Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077863	NM_000929.3(PLA2G5):c.317del (p.Asn106fs)	PLA2G5 (N106fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2056432	NM_000929.3(PLA2G5):c.402C>T (p.Asn134=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2037033	NM_000929.3(PLA2G5):c.327C>G (p.Ala109=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2006173	NM_000929.3(PLA2G5):c.105dup (p.Asn36fs)	PLA2G5 (N36fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1978472	NM_000929.3(PLA2G5):c.48T>C (p.Pro16=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975527	NM_000929.3(PLA2G5):c.70G>T (p.Asp24Tyr)	PLA2G5 (D24Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920140	NM_000929.3(PLA2G5):c.399del (p.Asn134fs)	PLA2G5 (N134fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1916319	NM_000929.3(PLA2G5):c.212A>G (p.Tyr71Cys)	PLA2G5 (Y71C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908554	NM_000929.3(PLA2G5):c.154G>A (p.Gly52Ser)	PLA2G5 (G52S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905048	NM_000929.3(PLA2G5):c.356A>G (p.Lys119Arg)	PLA2G5 (K119R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1904157	NM_000929.3(PLA2G5):c.292+18C>T	PLA2G5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898974	NM_000929.3(PLA2G5):c.185+12G>A	PLA2G5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660647	NM_000929.3(PLA2G5):c.293-10C>G	PLA2G5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646244	NM_000929.3(PLA2G5):c.185+11C>T	PLA2G5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638196	NM_000929.3(PLA2G5):c.40+16G>A	PLA2G5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1603923	NM_000929.3(PLA2G5):c.141C>T (p.Tyr47=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1590504	NM_000929.3(PLA2G5):c.321C>G (p.Leu107=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545795	NM_000929.3(PLA2G5):c.186-6G>A	PLA2G5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528236	NM_000929.3(PLA2G5):c.153C>T (p.Gly51=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1518055	NM_000929.3(PLA2G5):c.110C>G (p.Ala37Gly)	PLA2G5 (A37G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1516122	NM_000929.3(PLA2G5):c.124G>A (p.Gly42Ser)	PLA2G5 (G42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511242	NM_000929.3(PLA2G5):c.142T>G (p.Cys48Gly)	PLA2G5 (C48G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505376	NM_000929.3(PLA2G5):c.292+6G>T	PLA2G5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1499131	NM_000929.3(PLA2G5):c.58G>A (p.Gly20Arg)	PLA2G5 (G20R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498104	NM_000929.3(PLA2G5):c.17C>T (p.Pro6Leu)	PLA2G5 (P6L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496247	NM_000929.3(PLA2G5):c.295C>T (p.Pro99Ser)	PLA2G5 (P99S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491426	NM_000929.3(PLA2G5):c.292G>A (p.Glu98Lys)	PLA2G5 (E98K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490973	NM_000929.3(PLA2G5):c.326C>T (p.Ala109Val)	PLA2G5 (A109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490231	NM_000929.3(PLA2G5):c.334C>T (p.Arg112Trp)	PLA2G5 (R112W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485540	NM_000929.3(PLA2G5):c.229_231del (p.Lys77del)	PLA2G5 (K77del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1471994	NM_000929.3(PLA2G5):c.230A>G (p.Lys77Arg)	PLA2G5 (K77R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470722	NM_000929.3(PLA2G5):c.400A>C (p.Asn134His)	PLA2G5 (N134H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469846	NM_000929.3(PLA2G5):c.367C>T (p.Arg123Trp)	PLA2G5 (R123W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466349	NM_000929.3(PLA2G5):c.259A>C (p.Lys87Gln)	PLA2G5 (K87Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464348	NM_000929.3(PLA2G5):c.382C>T (p.Gln128Ter)	PLA2G5 (Q128*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1430630	NM_000929.3(PLA2G5):c.311A>C (p.His104Pro)	PLA2G5 (H104P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396508	NM_000929.3(PLA2G5):c.86T>C (p.Ile29Thr)	PLA2G5 (I29T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1389966	NM_000929.3(PLA2G5):c.102G>T (p.Gly34=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1380645	NM_000929.3(PLA2G5):c.217C>T (p.Arg73Trp)	PLA2G5 (R73W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377756	NM_000929.3(PLA2G5):c.343G>C (p.Val115Leu)	PLA2G5 (V115L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1352960	NM_000929.3(PLA2G5):c.407T>C (p.Leu136Pro)	PLA2G5 (L136P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 1170079	NM_000929.3(PLA2G5):c.185+3G>A	PLA2G5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167426	NM_000929.3(PLA2G5):c.292+19G>A	PLA2G5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166519	NM_000929.3(PLA2G5):c.9C>T (p.Gly3=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1164550	NM_000929.3(PLA2G5):c.144C>T (p.Cys48=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1149754	NM_000929.3(PLA2G5):c.108C>T (p.Asn36=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1128378	NM_000929.3(PLA2G5):c.225G>A (p.Glu75=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1121697	NM_000929.3(PLA2G5):c.297C>T (p.Pro99=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1116004	NM_000929.3(PLA2G5):c.288C>T (p.Thr96=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1115874	NM_000929.3(PLA2G5):c.180C>T (p.Thr60=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103504	NM_000929.3(PLA2G5):c.15C>G (p.Leu5=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095200	NM_000929.3(PLA2G5):c.390A>G (p.Gln130=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1078164	NM_000929.3(PLA2G5):c.123C>T (p.Tyr41=)	PLA2G5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1063610	NM_000929.3(PLA2G5):c.88G>A (p.Glu30Lys)	PLA2G5 (E30K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1063262	NM_000929.3(PLA2G5):c.41G>A (p.Ser14Asn)	PLA2G5 (S14N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1062101	NM_000929.3(PLA2G5):c.91A>G (p.Lys31Glu)	PLA2G5 (K31E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059166	NM_000929.3(PLA2G5):c.309C>A (p.Cys103Ter)	PLA2G5 (C103*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1046596	NM_000929.3(PLA2G5):c.43G>A (p.Val15Met)	PLA2G5 (V15M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1045734	NM_000929.3(PLA2G5):c.302C>T (p.Pro101Leu)	PLA2G5 (P101L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1043191	NM_000929.3(PLA2G5):c.245G>A (p.Arg82His)	PLA2G5 (R82H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1042265	NM_000929.3(PLA2G5):c.343G>T (p.Val115Phe)	PLA2G5 (V115F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1017725	NM_000929.3(PLA2G5):c.62G>T (p.Gly21Val)	PLA2G5 (G21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1014265	NM_000929.3(PLA2G5):c.383A>C (p.Gln128Pro)	PLA2G5 (Q128P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1009314	NM_000929.3(PLA2G5):c.301C>A (p.Pro101Thr)	PLA2G5 (P101T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 999871	NM_000929.3(PLA2G5):c.301C>T (p.Pro101Ser)	PLA2G5 (P101S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 2