Related gene-specific medical variations for Gene (Select 51206) - ClinVar

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	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 618669	NM_001083899.2(GP6):c.505A>G (p.Thr169Ala)	GP6 (T169A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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