ClinVar for Gene (Select 2239) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3061373	NM_001448.3(GPC4):c.1032del (p.Lys345fs)	GPC4 (K345fs)	Deletion (frameshift variant)	GPC4-related condition	GLikely pathogenic
Select item 3034642	NM_001448.3(GPC4):c.555G>A (p.Glu185=)	GPC4	Single nucleotide variant (synonymous variant)	GPC4-related condition	GLikely benign
Select item 3033420	NM_001448.3(GPC4):c.878-7A>C	GPC4	Single nucleotide variant (intron variant)	GPC4-related condition	GLikely benign
Select item 3029488	NM_001448.3(GPC4):c.581C>T (p.Thr194Met)	GPC4 (T194M)	Single nucleotide variant (missense variant)	GPC4-related condition	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685768	GRCh37/hg19 Xq26.2(chrX:132309288-132489895)x2	GPC4, TFDP3	Copy number gain	not provided	GUncertain significance
Select item 2685720	GRCh37/hg19 Xq26.1-26.3(chrX:129627661-135812056)x1	ADGRG4, ARHGAP36 +46 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2662536	NM_001448.3(GPC4):c.578A>T (p.Tyr193Phe)	GPC4 (Y193F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662076	NM_001448.3(GPC4):c.1490G>T (p.Gly497Val)	GPC4 (G497V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661468	NM_001448.3(GPC4):c.156C>G (p.Ile52Met)	GPC4 (I52M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661467	NM_001448.3(GPC4):c.205C>G (p.Gln69Glu)	GPC4 (Q69E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2661466	NM_001448.3(GPC4):c.1079C>G (p.Ala360Gly)	GPC4 (A360G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661465	NM_001448.3(GPC4):c.1623C>G (p.Leu541=)	GPC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633900	NM_001448.3(GPC4):c.1469G>A (p.Ser490Asn)	GPC4 (S490N)	Single nucleotide variant (missense variant)	GPC4-related condition	GUncertain significance
Select item 2628071	NM_001448.3(GPC4):c.1051C>T (p.Arg351Ter)	GPC4 (R351*)	Single nucleotide variant (nonsense)	Keipert syndrome	GPathogenic
Select item 2602846	NM_001448.3(GPC4):c.668A>G (p.Gln223Arg)	GPC4 (Q223R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584833	NM_001448.3(GPC4):c.1609C>T (p.Gln537Ter)	GPC4 (Q537*)	Single nucleotide variant (nonsense)	GPC4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2581802	NM_001448.3(GPC4):c.1276G>A (p.Gly426Arg)	GPC4 (G426R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581373	NM_001448.3(GPC4):c.1028C>T (p.Pro343Leu)	GPC4 (P343L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579810	NM_001448.3(GPC4):c.1022G>A (p.Cys341Tyr)	GPC4 (C341Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579755	NM_001448.3(GPC4):c.1352A>G (p.Gln451Arg)	GPC4 (Q451R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576734	NM_001448.3(GPC4):c.1412T>C (p.Met471Thr)	GPC4 (M471T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575746	NM_001448.3(GPC4):c.847G>T (p.Asp283Tyr)	GPC4 (D283Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573754	NM_001448.3(GPC4):c.1216A>G (p.Asn406Asp)	GPC4 (N406D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2515993	NM_001448.3(GPC4):c.1561A>G (p.Lys521Glu)	GPC4 (K521E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2501615	NM_001448.3(GPC4):c.922A>G (p.Ile308Val)	GPC4 (I308V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2492308	NM_001448.3(GPC4):c.1598G>A (p.Arg533His)	GPC4 (R533H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432241	NM_001448.3(GPC4):c.512G>A (p.Arg171Gln)	GPC4 (R171Q)	Single nucleotide variant (missense variant)	Keipert syndrome	GUncertain significance
Select item 2382627	NM_001448.3(GPC4):c.776G>A (p.Gly259Asp)	GPC4 (G259D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381436	NM_001448.3(GPC4):c.1541A>G (p.Asn514Ser)	GPC4 (N514S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371817	NM_001448.3(GPC4):c.853G>A (p.Asp285Asn)	GPC4 (D285N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220672	NM_001448.3(GPC4):c.452T>G (p.Val151Gly)	GPC4 (V151G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216672	NM_001448.3(GPC4):c.275A>G (p.Asn92Ser)	GPC4 (N92S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207911	NM_001448.3(GPC4):c.773G>A (p.Arg258Gln)	GPC4 (R258Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2017445	NM_001448.3(GPC4):c.1447G>A (p.Asp483Asn)	GPC4 (D483N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1804949	NM_001448.3(GPC4):c.1425GAA[1] (p.Lys476del)	GPC4 (K476del)	Microsatellite (inframe_deletion)	Keipert syndrome	GUncertain significance
Select item 1710922	GRCh37/hg19 Xq26.1-26.2(chrX:129711889-132794615)x3	ARHGAP36, ENOX2 +11 more	Copy number gain	See cases	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704775	NM_001448.3(GPC4):c.1555G>T (p.Ala519Ser)	GPC4 (A519S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1701612	NM_001448.3(GPC4):c.654_656delinsTTAC (p.Arg219fs)	GPC4 (R219fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1700694	NM_001448.3(GPC4):c.76A>G (p.Lys26Glu)	GPC4 (K26E)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1678219	NM_001448.3(GPC4):c.656G>A (p.Arg219His)	GPC4 (R219H)	Single nucleotide variant (missense variant)	Keipert syndrome +1 more	GUncertain significance
Select item 1677402	NM_001448.3(GPC4):c.870T>A (p.Asn290Lys)	GPC4 (N290K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1526854	GRCh37/hg19 Xq26.2(chrX:131859871-132462828)	GPC4, HS6ST2 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1344686	NM_001448.3(GPC4):c.455del (p.Val152fs)	GPC4 (V152fs)	Deletion (frameshift variant)	Craniosynostosis syndrome	GLikely pathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1340688	GRCh37/hg19 Xq26.2(chrX:132401818-132660268)x2	GPC4	Copy number gain	not provided	GUncertain significance
Select item 1337983	NM_001448.3(GPC4):c.646G>T (p.Val216Leu)	GPC4 (V216L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1328314	NM_001448.3(GPC4):c.1281A>G (p.Lys427=)	GPC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1299875	NM_001448.3(GPC4):c.38T>A (p.Leu13Gln)	GPC4 (L13Q)	Single nucleotide variant (missense variant)	GPC4-related condition	GLikely benign
Select item 1299207	NM_001448.3(GPC4):c.1183C>T (p.Gln395Ter)	GPC4 (Q395*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1285303	NM_001448.3(GPC4):c.1325C>T (p.Ala442Val)	GPC4 (A442V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1278651	NM_001448.3(GPC4):c.1173G>T (p.Glu391Asp)	GPC4 (E391D)	Single nucleotide variant (missense variant)	Keipert syndrome +1 more	GBenign
Select item 1264219	NM_001448.3(GPC4):c.320-15del	GPC4	Deletion (intron variant)	Wilms tumor 1 +3 more	GBenign
Select item 1253508	NM_001448.3(GPC4):c.320-16_320-15del	GPC4	Deletion (intron variant)	not provided	GBenign
Select item 1237958	NM_001448.3(GPC4):c.-20C>T	GPC4	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1230423	NM_001448.3(GPC4):c.712-293T>A	GPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183787	NM_001448.3(GPC4):c.161-276T>C	GPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183385	NM_001448.3(GPC4):c.160+96A>G	GPC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1176957	NM_001448.3(GPC4):c.929C>T (p.Ser310Leu)	GPC4 (S310L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049330	NM_001448.3(GPC4):c.772C>T (p.Arg258Trp)	GPC4 (R258W)	Single nucleotide variant (missense variant)	GPC4-related condition	GLikely benign
Select item 1030399	NM_001448.3(GPC4):c.650C>T (p.Ala217Val)	GPC4 (A217V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 980870	GRCh37/hg19 Xq26.2-26.3(chrX:132268495-134235471)x2	CCDC160, GPC3 +16 more	Copy number gain	not provided	GUncertain significance
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 807818	NM_001448.3(GPC4):c.1469-5A>G	GPC4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 778632	NM_001448.3(GPC4):c.320-8G>T	GPC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 754128	NM_001448.3(GPC4):c.1469-4C>T	GPC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 753984	NM_001448.3(GPC4):c.1116A>G (p.Glu372=)	GPC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743176	NM_001448.3(GPC4):c.1581C>T (p.Ala527=)	GPC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721968	NM_001448.3(GPC4):c.324C>T (p.Phe108=)	GPC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710909	NM_001448.3(GPC4):c.1469-16dup	GPC4	Duplication (intron variant)	not provided	GBenign
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 688047	GRCh37/hg19 Xq26.2(chrX:131860401-132462829)x3	GPC4, HS6ST2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 more	Copy number loss	not provided	GUncertain significance
Select item 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685626	GRCh37/hg19 Xq26.2(chrX:131864764-132517869)x2	GPC4, HS6ST2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 684935	GRCh37/hg19 Xq26.2(chrX:132473601-132576139)x2	GPC4	Copy number gain	not provided	GUncertain significance

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