93183[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 3015199	NM_145167.3(PIGM):c.1269C>G (p.Asp423Glu)	PIGM (D423E)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 503728	NM_145167.3(PIGM):c.1254_1257del (p.Arg419fs)	PIGM (R419fs)	Microsatellite (frameshift variant)	not provided +2 more	GUncertain significance
Select item 1716499	NM_145167.3(PIGM):c.1217A>C (p.Gln406Pro)	PIGM (Q406P)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 1424323	NM_145167.3(PIGM):c.1199A>G (p.Asn400Ser)	PIGM (N400S)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2151297	NM_145167.3(PIGM):c.1193T>C (p.Leu398Pro)	PIGM (L398P)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2472179	NM_145167.3(PIGM):c.1192C>G (p.Leu398Val)	PIGM (L398V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1166403	NM_145167.3(PIGM):c.1150A>G (p.Asn384Asp)	PIGM (N384D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2906336	NM_145167.3(PIGM):c.1143A>G (p.Gln381=)	PIGM	Single nucleotide variant (synonymous variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GLikely benign
Select item 1973487	NM_145167.3(PIGM):c.1100G>T (p.Gly367Val)	PIGM (G367V)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 1164402	NM_145167.3(PIGM):c.1095T>A (p.Phe365Leu)	PIGM (F365L)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency +1 more	GBenign
Select item 1916848	NM_145167.3(PIGM):c.1093T>G (p.Phe365Val)	PIGM (F365V)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2071768	NM_145167.3(PIGM):c.1090T>C (p.Trp364Arg)	PIGM (W364R)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency +1 more	GUncertain significance
Select item 2056194	NM_145167.3(PIGM):c.1042C>T (p.Pro348Ser)	PIGM (P348S)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GBenign
Select item 1020292	NM_145167.3(PIGM):c.1042C>G (p.Pro348Ala)	PIGM (P348A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1121017	NM_145167.3(PIGM):c.1017C>T (p.Tyr339=)	PIGM	Single nucleotide variant (synonymous variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GLikely benign
Select item 1055901	NM_145167.3(PIGM):c.1001A>C (p.Gln334Pro)	PIGM (Q334P)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 1170560	NM_145167.3(PIGM):c.999C>T (p.Ser333=)	PIGM	Single nucleotide variant (synonymous variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency +1 more	GBenign/Likely benign
Select item 2244698	NM_145167.3(PIGM):c.982A>T (p.Asn328Tyr)	PIGM (N328Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636415	NM_145167.3(PIGM):c.962C>A (p.Thr321Lys)	PIGM (T321K)	Single nucleotide variant (missense variant)	PIGM-related disorder	GUncertain significance
Select item 426742	NM_145167.3(PIGM):c.961A>G (p.Thr321Ala)	PIGM (T321A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2628534	NM_145167.3(PIGM):c.959A>G (p.His320Arg)	PIGM (H320R)	Single nucleotide variant (missense variant)	PIGM-related disorder	GUncertain significance
Select item 640196	NM_145167.3(PIGM):c.950G>A (p.Cys317Tyr)	PIGM (C317Y)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency +2 more	GUncertain significance
Select item 1690632	NM_145167.3(PIGM):c.929_937del (p.Tyr310_Leu313delinsPhe)	PIGM	Deletion (inframe_indel)	See cases	GUncertain significance
Select item 1124438	NM_145167.3(PIGM):c.867C>G (p.Ser289=)	PIGM	Single nucleotide variant (synonymous variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GLikely benign
Select item 2358869	NM_145167.3(PIGM):c.863T>C (p.Phe288Ser)	PIGM (F288S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2776988	NM_145167.3(PIGM):c.836A>G (p.Tyr279Cys)	PIGM (Y279C)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2576843	NM_145167.3(PIGM):c.827A>G (p.Tyr276Cys)	PIGM (Y276C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193498	NM_145167.3(PIGM):c.819G>A (p.Pro273=)	PIGM	Single nucleotide variant (synonymous variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency +2 more	GBenign
Select item 2103956	NM_145167.3(PIGM):c.805C>T (p.His269Tyr)	PIGM (H269Y)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2266019	NM_145167.3(PIGM):c.769A>G (p.Thr257Ala)	PIGM (T257A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639491	NM_145167.3(PIGM):c.756A>G (p.Glu252=)	PIGM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3384819	NM_145167.3(PIGM):c.709dup (p.Thr237fs)	PIGM (T237fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 1613153	NM_145167.3(PIGM):c.696A>G (p.Ala232=)	PIGM	Single nucleotide variant (synonymous variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GLikely benign
Select item 2492814	NM_145167.3(PIGM):c.686T>A (p.Leu229Gln)	PIGM (L229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1719666	NM_145167.3(PIGM):c.686T>C (p.Leu229Pro)	PIGM (L229P)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2249084	NM_145167.3(PIGM):c.676G>T (p.Ala226Ser)	PIGM (A226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2722137	NM_145167.3(PIGM):c.649G>C (p.Glu217Gln)	PIGM (E217Q)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency +1 more	GUncertain significance
Select item 1398285	NM_145167.3(PIGM):c.649G>A (p.Glu217Lys)	PIGM (E217K)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2730323	NM_145167.3(PIGM):c.613C>A (p.Arg205Ser)	PIGM (R205S)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2142785	NM_145167.3(PIGM):c.613C>T (p.Arg205Cys)	PIGM (R205C)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 3212807	NM_145167.3(PIGM):c.611T>C (p.Leu204Pro)	PIGM (L204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1985579	NM_145167.3(PIGM):c.608G>A (p.Ser203Asn)	PIGM (S203N)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2873823	NM_145167.3(PIGM):c.605A>G (p.Lys202Arg)	PIGM (K202R)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 775618	NM_145167.3(PIGM):c.582G>T (p.Leu194=)	PIGM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2582401	NM_145167.3(PIGM):c.538A>T (p.Lys180Ter)	PIGM (K180*)	Single nucleotide variant (nonsense)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GLikely pathogenic
Select item 1982390	NM_145167.3(PIGM):c.538A>G (p.Lys180Glu)	PIGM (K180E)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 754512	NM_145167.3(PIGM):c.525C>T (p.Phe175=)	PIGM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059769	NM_145167.3(PIGM):c.518A>G (p.Tyr173Cys)	PIGM (Y173C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2742356	NM_145167.3(PIGM):c.457C>G (p.Leu153Val)	PIGM (L153V)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2907881	NM_145167.3(PIGM):c.454T>G (p.Ser152Ala)	PIGM (S152A)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2823850	NM_145167.3(PIGM):c.443C>G (p.Ser148Cys)	PIGM (S148C)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 1587968	NM_145167.3(PIGM):c.438G>A (p.Ala146=)	PIGM	Single nucleotide variant (synonymous variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GLikely benign
Select item 2822947	NM_145167.3(PIGM):c.422C>A (p.Ser141Tyr)	PIGM (S141Y)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 1023331	NM_145167.3(PIGM):c.412A>G (p.Met138Val)	PIGM (M138V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1438684	NM_145167.3(PIGM):c.404C>T (p.Pro135Leu)	PIGM (P135L)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 3362856	NM_145167.3(PIGM):c.401del (p.Asn134fs)	PIGM (N134fs)	Deletion (frameshift variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 1959200	NM_145167.3(PIGM):c.364C>T (p.Arg122Cys)	PIGM (R122C)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2333342	NM_145167.3(PIGM):c.305G>A (p.Cys102Tyr)	PIGM (C102Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2878457	NM_145167.3(PIGM):c.303C>A (p.Ser101Arg)	PIGM (S101R)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 734772	NM_145167.3(PIGM):c.294C>T (p.Leu98=)	PIGM	Single nucleotide variant (synonymous variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GLikely benign
Select item 1394697	NM_145167.3(PIGM):c.292C>A (p.Leu98Ile)	PIGM (L98I)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2164907	NM_145167.3(PIGM):c.254C>G (p.Thr85Ser)	PIGM (T85S)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 3212806	NM_145167.3(PIGM):c.248T>A (p.Leu83His)	PIGM (L83H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 665365	NM_145167.3(PIGM):c.238C>G (p.Leu80Val)	PIGM (L80V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2063350	NM_145167.3(PIGM):c.232C>T (p.Pro78Ser)	PIGM (P78S)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 1478126	NM_145167.3(PIGM):c.230C>T (p.Thr77Ile)	PIGM (T77I)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency +1 more	GUncertain significance
Select item 2739748	NM_145167.3(PIGM):c.224G>A (p.Arg75His)	PIGM (R75H)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2052071	NM_145167.3(PIGM):c.216C>A (p.Ala72=)	PIGM	Single nucleotide variant (synonymous variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GLikely benign
Select item 3212805	NM_145167.3(PIGM):c.215C>A (p.Ala72Asp)	PIGM (A72D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391092	NM_145167.3(PIGM):c.212G>A (p.Arg71Lys)	PIGM (R71K)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2148592	NM_145167.3(PIGM):c.189G>C (p.Thr63=)	PIGM	Single nucleotide variant (synonymous variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GLikely benign
Select item 1503287	NM_145167.3(PIGM):c.183C>T (p.Phe61=)	PIGM	Single nucleotide variant (synonymous variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GLikely benign
Select item 1167407	NM_145167.3(PIGM):c.180C>T (p.Arg60=)	PIGM	Single nucleotide variant (synonymous variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency +1 more	GBenign/Likely benign
Select item 2199992	NM_145167.3(PIGM):c.160G>C (p.Val54Leu)	PIGM (V54L)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2159191	NM_145167.3(PIGM):c.148A>G (p.Ile50Val)	PIGM (I50V)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 193497	NM_145167.3(PIGM):c.137G>A (p.Arg46Lys)	PIGM (R46K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2081907	NM_145167.3(PIGM):c.130C>T (p.His44Tyr)	PIGM (H44Y)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2967435	NM_145167.3(PIGM):c.129G>A (p.Leu43=)	PIGM	Single nucleotide variant (synonymous variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GLikely benign
Select item 2541844	NM_145167.3(PIGM):c.122G>C (p.Arg41Pro)	PIGM (R41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 426722	NM_145167.3(PIGM):c.122G>A (p.Arg41Gln)	PIGM (R41Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 712300	NM_145167.3(PIGM):c.120C>T (p.Asp40=)	PIGM	Single nucleotide variant (synonymous variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GBenign
Select item 1967671	NM_145167.3(PIGM):c.114C>G (p.Phe38Leu)	PIGM (F38L)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 972028	NM_145167.3(PIGM):c.104A>G (p.Tyr35Cys)	PIGM (Y35C)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2682675	NM_145167.3(PIGM):c.102C>G (p.Phe34Leu)	PIGM (F34L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767287	NM_145167.3(PIGM):c.95T>C (p.Leu32Pro)	PIGM (L32P)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2714608	NM_145167.3(PIGM):c.74C>A (p.Ala25Asp)	PIGM (A25D)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 1004738	NM_145167.3(PIGM):c.59G>A (p.Gly20Asp)	PIGM (G20D)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 2482521	NM_145167.3(PIGM):c.38A>G (p.Asn13Ser)	PIGM (N13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301092	NM_145167.3(PIGM):c.16C>G (p.His6Asp)	PIGM (H6D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2914985	NM_145167.3(PIGM):c.8C>T (p.Ser3Phe)	PIGM (S3F)	Single nucleotide variant (missense variant)	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GUncertain significance
Select item 592292	NM_145167.3(PIGM):c.6C>T (p.Gly2=)	PIGM	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 520658	NM_145167.3(PIGM):c.2T>C (p.Met1Thr)	PIGM (M1T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 1223274	NM_145167.3(PIGM):c.-137A>G	PIGM	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1288	NC_000001.11:g.160032009G>C	PIGM	Single nucleotide variant	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	GPathogenic
Select item 1263886	NC_000001.11:g.160032114C>A	PIGM	Single nucleotide variant	not provided	GBenign
Select item 1266449	NC_000001.11:g.160032179C>T	PIGM	Single nucleotide variant	not provided	GBenign
Select item 1196771	NC_000001.11:g.160032179C>G	PIGM	Single nucleotide variant	not provided	GLikely benign

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