GPC3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149567	GRCh38/hg38 Xq26.2(chrX:133531315-133536007)x1	GPC3	Copy number loss	See cases	GLikely benign
Select item 1246217	NM_004484.4(GPC3):c.*226GAAA[1]	GPC3	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 2148200	NM_004484.4(GPC3):c.1742G>T (p.Ter581Leu)	GPC3	Single nucleotide variant (stop lost)	not provided +1 more	GUncertain significance
Select item 2830379	NM_004484.4(GPC3):c.1739A>C (p.His580Pro)	GPC3 (H526P +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 954675	NM_004484.4(GPC3):c.1739A>G (p.His580Arg)	GPC3 (H526R +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 408896	NM_004484.4(GPC3):c.1738C>T (p.His580Tyr)	GPC3 (H580Y +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2874566	NM_004484.4(GPC3):c.1737G>C (p.Val579=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 1709306	NM_004484.4(GPC3):c.1736_1737del (p.Val579fs)	GPC3 (V525fs +3 more)	Deletion (frameshift variant)	Simpson-Golabi-Behmel syndrome type 1	GUncertain significance
Select item 543112	NM_004484.4(GPC3):c.1737G>A (p.Val579=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 953514	NM_004484.4(GPC3):c.1736T>G (p.Val579Gly)	GPC3 (V525G +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 3017013	NM_004484.4(GPC3):c.1735G>A (p.Val579Met)	GPC3 (V525M +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 1482371	NM_004484.4(GPC3):c.1734G>A (p.Leu578=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GUncertain significance
Select item 2843332	NM_004484.4(GPC3):c.1731C>T (p.Phe577=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 1017218	NM_004484.4(GPC3):c.1723TTC[2] (p.Phe577del)	GPC3 (F523del +3 more)	Microsatellite (inframe_deletion)	Wilms tumor 1	GUncertain significance
Select item 657490	NM_004484.4(GPC3):c.1729T>C (p.Phe577Leu)	GPC3 (F561L +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 1083926	NM_004484.4(GPC3):c.1725C>T (p.Phe575=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 572758	NM_004484.4(GPC3):c.1724T>G (p.Phe575Cys)	GPC3 (F575C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1692813	NM_004484.4(GPC3):c.1721G>C (p.Cys574Ser)	GPC3 (C520S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1970378	NM_004484.4(GPC3):c.1719G>A (p.Val573=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 665538	NM_004484.4(GPC3):c.1718T>C (p.Val573Ala)	GPC3 (V573A +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 476652	NM_004484.4(GPC3):c.1716G>C (p.Val572=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GBenign
Select item 1371579	NM_004484.4(GPC3):c.1714G>A (p.Val572Met)	GPC3 (V556M +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 862920	NM_004484.4(GPC3):c.1714G>T (p.Val572Leu)	GPC3 (V518L +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 543100	NM_004484.4(GPC3):c.1713G>A (p.Ser571=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 2153772	NM_004484.4(GPC3):c.1712C>T (p.Ser571Leu)	GPC3 (S517L +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 1035328	NM_004484.4(GPC3):c.1711T>C (p.Ser571Pro)	GPC3 (S555P +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 1162914	NM_004484.4(GPC3):c.1709T>C (p.Ile570Thr)	GPC3 (I516T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 11691	NM_004484.4(GPC3):c.1705G>A (p.Ala569Thr)	GPC3 (A515T +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 843009	NM_004484.4(GPC3):c.1702A>G (p.Met568Val)	GPC3 (M591V +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GLikely benign
Select item 2721331	NM_004484.4(GPC3):c.1701C>T (p.Ser567=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 2156355	NM_004484.4(GPC3):c.1700G>C (p.Ser567Thr)	GPC3 (S567T +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 761308	NM_004484.4(GPC3):c.1698C>T (p.Thr566=)	GPC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 858695	NM_004484.4(GPC3):c.1696A>G (p.Thr566Ala)	GPC3 (T550A +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 266113	NM_004484.4(GPC3):c.1692del (p.Leu565fs)	GPC3 (L511fs +3 more)	Deletion (frameshift variant)	Simpson-Golabi-Behmel syndrome type 1	GLikely pathogenic
Select item 476651	NM_004484.4(GPC3):c.1686G>C (p.Leu562=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 1700536	NM_004484.4(GPC3):c.1685T>C (p.Leu562Pro)	GPC3 (L508P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 701486	NM_004484.4(GPC3):c.1683G>A (p.Pro561=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GBenign
Select item 576817	NM_004484.4(GPC3):c.1681C>T (p.Pro561Ser)	GPC3 (P561S +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 543101	NM_004484.4(GPC3):c.1680C>T (p.Ser560=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1 +1 more	GBenign/Likely benign
Select item 3011320	NM_004484.4(GPC3):c.1679C>T (p.Ser560Phe)	GPC3 (S560F +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2757888	NM_004484.4(GPC3):c.1677T>C (p.His559=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 2415526	NM_004484.4(GPC3):c.1676A>G (p.His559Arg)	GPC3 (H505R +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2141906	NM_004484.4(GPC3):c.1675C>T (p.His559Tyr)	GPC3 (H505Y +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 835756	NM_004484.4(GPC3):c.1672G>A (p.Val558Ile)	GPC3 (V504I +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 1143654	NM_004484.4(GPC3):c.1671C>T (p.Asn557=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 1022572	NM_004484.4(GPC3):c.1669A>T (p.Asn557Tyr)	GPC3 (N503Y +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 1500542	NM_004484.4(GPC3):c.1666G>C (p.Gly556Arg)	GPC3 (G502R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 11695	NM_004484.4(GPC3):c.1666G>A (p.Gly556Arg)	GPC3 (G556R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1130456	NM_004484.4(GPC3):c.1665C>G (p.Leu555=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 700085	NM_004484.4(GPC3):c.1665C>T (p.Leu555=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 862165	NM_004484.4(GPC3):c.1663C>T (p.Leu555Phe)	GPC3 (L501F +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 1621433	NM_004484.4(GPC3):c.1662C>T (p.Asn554=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 2761629	NM_004484.4(GPC3):c.1661A>T (p.Asn554Ile)	GPC3 (N538I +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 860345	NM_004484.4(GPC3):c.1661A>G (p.Asn554Ser)	GPC3 (N500S +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 1478633	NM_004484.4(GPC3):c.1659C>G (p.His553Gln)	GPC3 (H499Q +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 961836	NM_004484.4(GPC3):c.1649G>C (p.Ser550Thr)	GPC3 (S496T +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 1086586	NM_004484.4(GPC3):c.1647A>T (p.Ile549=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 1693307	NM_004484.4(GPC3):c.1645A>G (p.Ile549Val)	GPC3 (I495V +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1 +1 more	GUncertain significance
Select item 960416	NM_004484.4(GPC3):c.1642G>A (p.Glu548Lys)	GPC3 (E494K +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 543111	NM_004484.4(GPC3):c.1641C>T (p.Asn547=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GBenign
Select item 997494	NM_004484.4(GPC3):c.1640A>G (p.Asn547Ser)	GPC3 (N493S +3 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 1 +1 more	GUncertain significance
Select item 1433895	NM_004484.4(GPC3):c.1639A>G (p.Asn547Asp)	GPC3 (N493D +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 844697	NM_004484.4(GPC3):c.1636G>A (p.Asp546Asn)	GPC3 (D492N +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 415273	NM_004484.4(GPC3):c.1632G>A (p.Pro544=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GBenign
Select item 2827476	NM_004484.4(GPC3):c.1631C>G (p.Pro544Arg)	GPC3 (P528R +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 239940	NM_004484.4(GPC3):c.1631C>T (p.Pro544Leu)	GPC3 (P544L +3 more)	Single nucleotide variant (missense variant)	Simpson-Golabi-Behmel syndrome type 1 +3 more	GBenign/Likely benign
Select item 137490	NM_004484.4(GPC3):c.1626A>G (p.Ala542=)	GPC3	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 833976	NM_004484.4(GPC3):c.1619A>G (p.Gln540Arg)	GPC3 (Q563R +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GLikely benign
Select item 2193413	NM_004484.4(GPC3):c.1617T>A (p.Ser539Arg)	GPC3 (S562R +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 476650	NM_004484.4(GPC3):c.1616G>C (p.Ser539Thr)	GPC3 (S539T +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GBenign
Select item 1367254	NM_004484.4(GPC3):c.1615A>G (p.Ser539Gly)	GPC3 (S485G +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 1441630	NM_004484.4(GPC3):c.1613A>G (p.Asn538Ser)	GPC3 (N522S +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 1019990	NM_004484.4(GPC3):c.1610G>C (p.Gly537Ala)	GPC3 (G483A +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2060685	NM_004484.4(GPC3):c.1606C>T (p.Pro536Ser)	GPC3 (P536S +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 794088	NM_004484.4(GPC3):c.1605G>T (p.Ala535=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 696665	NM_004484.4(GPC3):c.1605G>A (p.Ala535=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1	GLikely benign
Select item 1025379	NM_004484.4(GPC3):c.1604C>T (p.Ala535Val)	GPC3 (A481V +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 658639	NM_004484.4(GPC3):c.1604C>G (p.Ala535Gly)	GPC3 (A519G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2026578	NM_004484.4(GPC3):c.1598ATG[1] (p.Asp534del)	GPC3 (D480del +3 more)	Microsatellite (inframe_deletion)	Wilms tumor 1	GUncertain significance
Select item 543095	NM_004484.4(GPC3):c.1601A>G (p.Asp534Gly)	GPC3 (D534G +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GLikely benign
Select item 1021147	NM_004484.4(GPC3):c.1600G>A (p.Asp534Asn)	GPC3 (D480N +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2909613	NM_004484.4(GPC3):c.1595T>C (p.Val532Ala)	GPC3 (V478A +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 639319	NM_004484.4(GPC3):c.1594G>T (p.Val532Leu)	GPC3 (V516L +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 863492	NM_004484.4(GPC3):c.1592A>T (p.Asp531Val)	GPC3 (D515V +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2919375	NM_004484.4(GPC3):c.1587T>A (p.Asp529Glu)	GPC3 (D513E +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2914950	NM_004484.4(GPC3):c.1586A>G (p.Asp529Gly)	GPC3 (D475G +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 949405	NM_004484.4(GPC3):c.1582T>C (p.Tyr528His)	GPC3 (Y551H +3 more)	Single nucleotide variant (missense variant)	Wilms tumor 1	GUncertain significance
Select item 2104002	NM_004484.4(GPC3):c.1578G>A (p.Leu526=)	GPC3	Single nucleotide variant (synonymous variant)	Wilms tumor 1 +1 more	GLikely benign
Select item 2044643	NM_004484.4(GPC3):c.1574-3C>A	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GUncertain significance
Select item 239939	NM_004484.4(GPC3):c.1574-7_1574-4del	GPC3	Microsatellite (intron variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 2024446	NM_004484.4(GPC3):c.1574-9_1574-7dup	GPC3	Duplication (intron variant)	Wilms tumor 1	GLikely benign
Select item 2071256	NM_004484.4(GPC3):c.1574-11T>C	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GBenign
Select item 2034996	NM_004484.4(GPC3):c.1573+20C>G	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 1625313	NM_004484.4(GPC3):c.1573+20C>T	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GBenign
Select item 2080402	NM_004484.4(GPC3):c.1573+15C>T	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 1390966	NM_004484.4(GPC3):c.1573+15C>G	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 239937	NM_004484.4(GPC3):c.1573+10T>A	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 1120535	NM_004484.4(GPC3):c.1573+9T>G	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 851215	NM_004484.4(GPC3):c.1573+8A>G	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GLikely benign
Select item 2960833	NM_004484.4(GPC3):c.1573+5C>T	GPC3	Single nucleotide variant (intron variant)	Wilms tumor 1	GUncertain significance

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