"GeneDx"[submitter] AND "GPC6"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57644	GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1	DCT, GPC5 +121 more	Copy number loss	See cases	GPathogenic
Select item 57678	GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1	ABCC4, CLDN10 +168 more	Copy number loss	See cases	GPathogenic
Select item 1257500	NC_000013.11:g.93226778A>G	GPC6	Single nucleotide variant	not provided	GBenign
Select item 312529	NM_005708.5(GPC6):c.-623G>A	GPC6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 312531	NM_005708.5(GPC6):c.-320C>A	GPC6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1288989	NM_005708.5(GPC6):c.161-300G>A	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181403	NM_005708.5(GPC6):c.319+177del	GPC6	Deletion (intron variant)	not provided	GBenign
Select item 1240998	NM_005708.5(GPC6):c.319+61454A>G	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244432	NM_005708.5(GPC6):c.319+86315C>G	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275981	NM_005708.5(GPC6):c.319+86317G>A	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241387	NM_005708.5(GPC6):c.319+86342A>G	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236391	NM_005708.5(GPC6):c.319+86545G>T	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270856	NM_005708.5(GPC6):c.319+111352A>G	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151246	GRCh38/hg38 13q31.3(chr13:93689856-93770897)x3	GPC6	Copy number gain	See cases	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 1277520	NM_005708.5(GPC6):c.711+93dup	GPC6, GPC6-AS2	Duplication (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 1294770	NM_005708.5(GPC6):c.711+92_711+93del	GPC6, GPC6-AS2	Deletion (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 1289183	NM_005708.5(GPC6):c.711+86A>C	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 1248898	NM_005708.5(GPC6):c.877+144A>T	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231201	NM_005708.5(GPC6):c.1008+52A>G	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238987	NM_005708.5(GPC6):c.1009-134T>A	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183345	NM_005708.5(GPC6):c.1153-313C>G	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250658	NM_005708.5(GPC6):c.1153-128T>C	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 312547	NM_005708.5(GPC6):c.1234G>A (p.Val412Met)	GPC6 (V412M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 312548	NM_005708.5(GPC6):c.1248G>A (p.Thr416=)	GPC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1287282	NM_005708.5(GPC6):c.1289+106G>T	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236355	NM_005708.5(GPC6):c.1289+113G>A	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272897	NM_005708.5(GPC6):c.1289+233T>A	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251610	NM_005708.5(GPC6):c.1289+327A>T	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272085	NM_005708.5(GPC6):c.1290-232A>G	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230648	NM_005708.5(GPC6):c.1466-133A>C	GPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 312559	NM_005708.5(GPC6):c.*255G>A	GPC6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253830	GRCh37/hg19 13q31.3(chr13:91209639-94704856)x3	GPC5, GPC6 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253491	GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1	ABCC4, ABHD13 +94 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 39