ClinVar for Gene (Select 10082) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3101266	NM_005708.5(GPC6):c.866A>G (p.Asn289Ser)	GPC6 (N289S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101265	NM_005708.5(GPC6):c.775G>C (p.Gly259Arg)	GPC6 (G259R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101264	NM_005708.5(GPC6):c.334C>T (p.Leu112Phe)	GPC6, GPC6-AS2 (L112F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101263	NM_005708.5(GPC6):c.1580T>C (p.Val527Ala)	GPC6 (V527A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3101262	NM_005708.5(GPC6):c.1324A>C (p.Asn442His)	GPC6 (N442H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065690	NM_005708.5(GPC6):c.1193T>G (p.Val398Gly)	GPC6 (V398G)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 3065600	NM_005708.5(GPC6):c.49C>T (p.Leu17Phe)	GPC6 (L17F)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3043400	NM_005708.5(GPC6):c.387C>T (p.Gly129=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	GPC6-related condition	GLikely benign
Select item 3038276	NM_005708.5(GPC6):c.714C>G (p.Val238=)	GPC6	Single nucleotide variant (synonymous variant)	GPC6-related condition	GLikely benign
Select item 3015835	NM_005708.5(GPC6):c.1083T>C (p.Asn361=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008248	NM_005708.5(GPC6):c.60C>T (p.Pro20=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001013	NM_005708.5(GPC6):c.1245C>T (p.Gly415=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999858	NM_005708.5(GPC6):c.1133G>A (p.Gly378Asp)	GPC6 (G378D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995876	NM_005708.5(GPC6):c.729G>A (p.Gly243=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985246	NM_005708.5(GPC6):c.1320C>T (p.Leu440=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960468	NM_005708.5(GPC6):c.161-7A>G	GPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902871	NM_005708.5(GPC6):c.1233C>T (p.Ser411=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881962	NM_005708.5(GPC6):c.672G>A (p.Gly224=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871517	NM_005708.5(GPC6):c.877+8G>T	GPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861299	NM_005708.5(GPC6):c.1290-8C>T	GPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808245	NM_005708.5(GPC6):c.130C>T (p.Leu44=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779855	NM_005708.5(GPC6):c.24G>C (p.Val8=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715798	NM_005708.5(GPC6):c.594G>A (p.Lys198=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2685478	GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1	SLC15A1, SOX21 +50 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +98 more	Copy number loss	not provided	GPathogenic
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684707	GRCh37/hg19 13q31.3-32.1(chr13:94064930-95288392)x3	DCT, GPC6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2613255	NM_005708.5(GPC6):c.776G>A (p.Gly259Glu)	GPC6 (G259E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609081	NM_005708.5(GPC6):c.1466G>C (p.Ser489Thr)	GPC6 (S489T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599172	NM_005708.5(GPC6):c.881C>G (p.Ala294Gly)	GPC6 (A294G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535277	NM_005708.5(GPC6):c.1244G>A (p.Gly415Asp)	GPC6 (G415D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490861	NM_005708.5(GPC6):c.814A>C (p.Asn272His)	GPC6 (N272H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425403	NC_000013.10:g.(?_93879710)_(96443284_?)dup	ABCC4, CLDN10 +7 more	Duplication	not provided	GUncertain significance
Select item 2425402	NC_000013.10:g.(?_93879710)_(94482818_?)del	GPC6	Deletion	not provided	GPathogenic
Select item 2425401	NC_000013.10:g.(?_93879710)_(95248390_?)del	DCT, GPC6 +1 more	Deletion	not provided	GPathogenic
Select item 2414211	NM_005708.5(GPC6):c.1255G>A (p.Glu419Lys)	GPC6 (E419K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2354991	NM_005708.5(GPC6):c.1228G>C (p.Glu410Gln)	GPC6 (E410Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345205	NM_005708.5(GPC6):c.1513G>A (p.Val505Met)	GPC6 (V505M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328252	NM_005708.5(GPC6):c.331G>A (p.Glu111Lys)	GPC6, GPC6-AS2 (E111K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314560	NM_005708.5(GPC6):c.1310A>G (p.Asn437Ser)	GPC6 (N437S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285872	NM_005708.5(GPC6):c.923T>A (p.Ile308Asn)	GPC6 (I308N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281511	NM_005708.5(GPC6):c.301A>G (p.Arg101Gly)	GPC6 (R101G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230405	NM_005708.5(GPC6):c.1556C>T (p.Ala519Val)	GPC6 (A519V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229716	NM_005708.5(GPC6):c.634A>T (p.Thr212Ser)	GPC6-AS2, GPC6 (T212S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228967	NM_005708.5(GPC6):c.997G>A (p.Val333Met)	GPC6 (V333M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228195	NM_005708.5(GPC6):c.1480G>A (p.Gly494Ser)	GPC6 (G494S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228003	NM_005708.5(GPC6):c.269C>T (p.Thr90Ile)	GPC6 (T90I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222348	NM_005708.5(GPC6):c.1466-6C>T	GPC6	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2197715	NM_005708.5(GPC6):c.1217T>C (p.Ile406Thr)	GPC6 (I406T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2190405	NM_005708.5(GPC6):c.852C>T (p.Leu284=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181494	NM_005708.5(GPC6):c.1466-10T>C	GPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2178568	NM_005708.5(GPC6):c.816C>T (p.Asn272=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175161	NM_005708.5(GPC6):c.64G>C (p.Gly22Arg)	GPC6 (G22R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167301	NM_005708.5(GPC6):c.1227C>T (p.Asp409=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159945	NM_005708.5(GPC6):c.1241C>T (p.Ala414Val)	GPC6 (A414V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2145046	NM_005708.5(GPC6):c.1403G>A (p.Arg468His)	GPC6 (R468H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2142209	NM_005708.5(GPC6):c.639C>T (p.Arg213=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2139727	NM_005708.5(GPC6):c.694G>A (p.Ala232Thr)	GPC6, GPC6-AS2 (A232T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2127939	NM_005708.5(GPC6):c.435G>A (p.Glu145=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2093037	NM_005708.5(GPC6):c.1605C>T (p.Gly535=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067101	NM_005708.5(GPC6):c.1254C>T (p.Asn418=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054652	NM_005708.5(GPC6):c.320-4G>T	GPC6, GPC6-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2033471	NM_005708.5(GPC6):c.1465+14T>A	GPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031653	NM_005708.5(GPC6):c.1239A>G (p.Thr413=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018631	NM_005708.5(GPC6):c.877+15_877+16insTGTGATTCTTAAACACCTTCATCATGGAACTCTCAGAGTGGGGTCCGTTTTGGTTTCCTGGTGGTGGGTTTTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTGTTTAA	GPC6	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1992801	NM_005708.5(GPC6):c.1510G>T (p.Asp504Tyr)	GPC6 (D504Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992800	NM_005708.5(GPC6):c.1184C>A (p.Ser395Tyr)	GPC6 (S395Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1989448	NM_005708.5(GPC6):c.329G>A (p.Arg110Gln)	GPC6, GPC6-AS2 (R110Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986883	NM_005708.5(GPC6):c.606C>T (p.Asp202=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982979	NM_005708.5(GPC6):c.500G>A (p.Arg167Gln)	GPC6, GPC6-AS2 (R167Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1982699	NM_005708.5(GPC6):c.283C>T (p.Arg95Cys)	GPC6 (R95C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978161	NM_005708.5(GPC6):c.455G>C (p.Gly152Ala)	GPC6, GPC6-AS2 (G152A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964329	NM_005708.5(GPC6):c.1179G>A (p.Lys393=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947789	NM_005708.5(GPC6):c.1466-18T>G	GPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1947218	NM_005708.5(GPC6):c.1643T>C (p.Leu548Pro)	GPC6 (L548P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1946993	NM_005708.5(GPC6):c.421G>C (p.Asp141His)	GPC6, GPC6-AS2 (D141H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933605	NM_005708.5(GPC6):c.877+13T>C	GPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925188	NM_005708.5(GPC6):c.1613T>G (p.Leu538Arg)	GPC6 (L538R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923138	NM_005708.5(GPC6):c.113G>C (p.Gly38Ala)	GPC6 (G38A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912930	NM_005708.5(GPC6):c.1466-17C>T	GPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908834	NM_005708.5(GPC6):c.950T>C (p.Val317Ala)	GPC6 (V317A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906143	NM_005708.5(GPC6):c.646A>G (p.Ile216Val)	GPC6, GPC6-AS2 (I216V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903384	NM_005708.5(GPC6):c.1290-12T>C	GPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898538	NM_005708.5(GPC6):c.1564C>T (p.Pro522Ser)	GPC6 (P522S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896278	NM_005708.5(GPC6):c.285C>A (p.Arg95=)	GPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809240	GRCh37/hg19 13q31.3(chr13:93784678-94407889)x3	GPC6	Copy number gain	not provided	GUncertain significance
Select item 1808814	GRCh37/hg19 13q31.3(chr13:92072602-94178694)x3	GPC5, GPC6	Copy number gain	not provided	GUncertain significance
Select item 1808584	GRCh37/hg19 13q31.3-32.1(chr13:94738479-95001858)x3	GPC6	Copy number gain	not provided	GUncertain significance
Select item 1808276	GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1	ABCC4, BIVM +40 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1806178	NM_005708.5(GPC6):c.1228G>A (p.Glu410Lys)	GPC6 (E410K)	Single nucleotide variant (missense variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic

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