"GeneDx"[submitter] AND "GP6"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 1223991	NM_016363.5(GP6):c.*952C>T	GP6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1255149	NM_016363.5(GP6):c.*901C>A	GP6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 257416	NM_016363.5(GP6):c.*792T>C	GP6 (F606L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 257415	NM_016363.5(GP6):c.*781C>T	GP6 (T602M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 257414	NM_016363.5(GP6):c.*703G>A	GP6 (R576K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 257413	NM_016363.5(GP6):c.*693A>G	GP6 (R573G)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 11 +2 more	GBenign
Select item 2179397	NM_016363.5(GP6):c.963_964delinsTC (p.Asn322His)	GP6 (K323S +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 257428	NM_016363.5(GP6):c.964A>C (p.Asn322His)	GP6 (K323T +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 257427	NM_016363.5(GP6):c.950T>A (p.Leu317Gln)	GP6 (L299Q +1 more)	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 11 +2 more	GBenign
Select item 257426	NM_016363.5(GP6):c.936C>G (p.Leu312=)	GP6 (P314A)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 11 +1 more	GBenign
Select item 3365747	NM_016363.5(GP6):c.812T>C (p.Val271Ala)	GP6 (V253A +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1262846	NM_016363.5(GP6):c.775+225C>G	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257942	NM_016363.5(GP6):c.775+114_775+118del	GP6	Deletion (intron variant)	not provided	GBenign
Select item 257424	NM_016363.5(GP6):c.745G>A (p.Ala249Thr)	GP6 (A231T +1 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 11 +2 more	GBenign
Select item 1225054	NM_016363.5(GP6):c.725-88C>A	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249458	NM_016363.5(GP6):c.725-175A>G	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261200	NM_016363.5(GP6):c.724+184G>A	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290782	NM_016363.5(GP6):c.724+87T>C	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274034	NM_016363.5(GP6):c.724+84T>C	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257423	NM_016363.5(GP6):c.709G>A (p.Glu237Lys)	GP6 (E219K +1 more)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 11 +2 more	GBenign
Select item 1241210	NM_016363.5(GP6):c.664+276C>G	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257422	NM_016363.5(GP6):c.655C>T (p.Pro219Ser)	GP6 (P219S)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1280657	NM_016363.5(GP6):c.611-245C>T	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226404	NM_016363.5(GP6):c.610+69G>A	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 257421	NM_016363.5(GP6):c.576A>G (p.Ser192=)	GP6	Single nucleotide variant (synonymous variant)	Platelet-type bleeding disorder 11 +2 more	GBenign
Select item 257420	NM_016363.5(GP6):c.507G>A (p.Thr169=)	GP6	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 257419	NM_016363.5(GP6):c.495T>C (p.Phe165=)	GP6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 257418	NM_016363.5(GP6):c.484A>C (p.Arg162=)	GP6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1700529	NM_016363.5(GP6):c.344C>T (p.Ser115Leu)	GP6 (S115L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1262240	NM_016363.5(GP6):c.326-73G>C	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291005	NM_016363.5(GP6):c.326-78G>C	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266310	NM_016363.5(GP6):c.326-318G>A	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257209	NM_016363.5(GP6):c.325+103C>A	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777296	NM_016363.5(GP6):c.307C>G (p.Leu103Val)	GP6 (L103V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 916452	NM_016363.5(GP6):c.172C>T (p.Arg58Cys)	GP6 (R58C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1234348	NM_016363.5(GP6):c.67+40G>A	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248173	NM_016363.5(GP6):c.35-67G>A	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257088	NM_016363.5(GP6):c.35-189T>C	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224651	NM_016363.5(GP6):c.35-297G>T	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246634	NM_016363.5(GP6):c.34+185G>C	GP6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278923	NC_000019.10:g.55038390G>A	GP6	Single nucleotide variant	not provided	GBenign
Select item 1249235	NC_000019.10:g.55038601dup	GP6	Duplication	not provided	GBenign
Select item 253872	GRCh37/hg19 19q13.42(chr19:55392342-55574857)x3	FCAR, GP6 +4 more	Copy number gain	See cases	GUncertain significance

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Items: 46