ClinVar for MedGen (Select 481750) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690478	NM_016363.5(GP6):c.*485C>T	GP6	Single nucleotide variant (synonymous variant +1 more)	Platelet-type bleeding disorder 11	GLikely benign
Select item 2441974	NM_001083899.2(GP6):c.356_360del (p.Gln119fs)	GP6 (Q119fs)	Microsatellite (frameshift variant)	Platelet-type bleeding disorder 11	GLikely pathogenic
Select item 1691235	NM_016363.5(GP6):c.708_711del (p.Asn236fs)	GP6 (N218fs +1 more)	Deletion (frameshift variant)	Platelet-type bleeding disorder 11	GPathogenic
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 691634	NM_001083899.2(GP6):c.584G>A (p.Ser195Asn)	GP6 (S195N)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 11	GPathogenic
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 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 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 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 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 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 257416	NM_016363.5(GP6):c.*792T>C	GP6 (F606L)	Single nucleotide variant (missense variant +1 more)	not provided +2 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 257411	NM_016363.5(GP6):c.*395C>T	GP6	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 30506	NM_016363.5(GP6):c.142_157del (p.Cys48fs)	GP6 (C48fs)	Deletion (frameshift variant)	Platelet-type bleeding disorder 11	GPathogenic
Select item 30504	NM_016363.5(GP6):c.356_360dup (p.Gly121fs)	GP6 (G121fs)	Microsatellite (frameshift variant)	Platelet-type bleeding disorder 11	GPathogenic