Related gene-specific medical variations for Gene (Select 10082) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3043400	NM_005708.5(GPC6):c.387C>T (p.Gly129=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	GPC6-related disorder	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 2715798	NM_005708.5(GPC6):c.594G>A (p.Lys198=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 2054652	NM_005708.5(GPC6):c.320-4G>T	GPC6, GPC6-AS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 1809240	GRCh37/hg19 13q31.3(chr13:93784678-94407889)x3	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 1515636	NM_005708.5(GPC6):c.512G>A (p.Arg171Gln)	GPC6, GPC6-AS2 (R171Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474091	NM_005708.5(GPC6):c.485A>G (p.Asn162Ser)	GPC6, GPC6-AS2 (N162S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1471738	NM_005708.5(GPC6):c.613C>T (p.Arg205Trp)	GPC6, GPC6-AS2 (R205W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470983	NM_005708.5(GPC6):c.578A>T (p.Tyr193Phe)	GPC6, GPC6-AS2 (Y193F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1454063	NM_005708.5(GPC6):c.453T>G (p.Thr151=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1425998	NM_005708.5(GPC6):c.548G>T (p.Ser183Ile)	GPC6, GPC6-AS2 (S183I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1367315	NM_005708.5(GPC6):c.376C>T (p.Arg126Trp)	GPC6, GPC6-AS2 (R126W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356390	NM_005708.5(GPC6):c.511C>T (p.Arg171Trp)	GPC6, GPC6-AS2 (R171W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1294770	NM_005708.5(GPC6):c.711+92_711+93del	GPC6, GPC6-AS2	Deletion (intron variant)	not provided	GBenign
Select item 1289183	NM_005708.5(GPC6):c.711+86A>C	GPC6, GPC6-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277520	NM_005708.5(GPC6):c.711+93dup	GPC6, GPC6-AS2	Duplication (intron variant)	not provided	GBenign
Select item 1275224	NM_005708.5(GPC6):c.320-183A>G	GPC6, GPC6-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274856	NM_005708.5(GPC6):c.711+226T>C	GPC6, GPC6-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266037	NM_005708.5(GPC6):c.711+91_711+93del	GPC6, GPC6-AS2	Deletion (intron variant)	not provided	GBenign
Select item 1236831	NM_005708.5(GPC6):c.711+93del	GPC6, GPC6-AS2	Deletion (intron variant)	not provided	GBenign
Select item 1220752	NM_005708.5(GPC6):c.711+92_711+93dup	GPC6, GPC6-AS2	Duplication (intron variant)	not provided	GBenign
Select item 1205989	NM_005708.5(GPC6):c.710A>G (p.Lys237Arg)	GPC6, GPC6-AS2 (K237R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1082314	NM_005708.5(GPC6):c.474G>A (p.Glu158=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1076013	NM_005708.5(GPC6):c.433_451del (p.Glu145fs)	GPC6-AS2, GPC6 (E145fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1021590	NM_005708.5(GPC6):c.452C>A (p.Thr151Asn)	GPC6, GPC6-AS2 (T151N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 979988	GRCh37/hg19 13q31.3(chr13:94754706-94888187)x1	GPC6	Copy number loss	not provided	GUncertain significance
Select item 881111	NM_005708.5(GPC6):c.711+7G>A	GPC6, GPC6-AS2	Single nucleotide variant (intron variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 815610	GRCh37/hg19 13q31.3(chr13:94627872-94683687)x1	GPC6	Copy number loss	not provided	GUncertain significance
Select item 739728	NM_005708.5(GPC6):c.510A>G (p.Glu170=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730194	NM_005708.5(GPC6):c.576A>G (p.Lys192=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 687181	GRCh37/hg19 13q31.3(chr13:94120662-94430587)x1	GPC6	Copy number loss	not provided	GPathogenic
Select item 685089	GRCh37/hg19 13q31.3(chr13:94097218-94204671)x1	GPC6	Copy number loss	not provided	GPathogenic
Select item 564007	GRCh37/hg19 13q31.3(chr13:94034139-94204243)x1	GPC6	Copy number loss	not provided	GUncertain significance
Select item 563994	GRCh37/hg19 13q31.3(chr13:94925496-94988058)x1	GPC6	Copy number loss	not provided	GUncertain significance
Select item 442584	GRCh37/hg19 13q31.3(chr13:94069660-94324629)x1	GPC6	Copy number loss	See cases	GUncertain significance
Select item 312540	NM_005708.5(GPC6):c.585C>T (p.Asp195=)	GPC6, GPC6-AS2	Single nucleotide variant (synonymous variant)	Autosomal recessive omodysplasia	GUncertain significance
Select item 288234	NM_005708.5(GPC6):c.320-6C>G	GPC6, GPC6-AS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 154929	GRCh38/hg38 13q31.3(chr13:93707800-93770810)x1	GPC6	Copy number loss	See cases	GLikely benign
Select item 153008	GRCh38/hg38 13q31.3(chr13:93601411-93624805)x1	GPC6	Copy number loss	See cases	GBenign
Select item 151246	GRCh38/hg38 13q31.3(chr13:93689856-93770897)x3	GPC6	Copy number gain	See cases	GBenign
Select item 149800	GRCh38/hg38 13q31.3(chr13:93383656-93538852)x1	GPC6	Copy number loss	See cases	GLikely benign
Select item 58177	GRCh38/hg38 13q31.3(chr13:93345058-93629454)x1	GPC6	Copy number loss	See cases	GUncertain significance
Select item 5552	NM_005708.5(GPC6):c.700C>T (p.Arg234Ter)	GPC6, GPC6-AS2 (R234*)	Single nucleotide variant (nonsense)	Autosomal recessive omodysplasia	GPathogenic

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Links from Gene

Items: 58