ClinVar for MedGen (Select 344735) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 13534	NM_000174.5(GP9):c.20T>C (p.Leu7Pro)	GP9 (L7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13533	NM_000174.5(GP9):c.70T>C (p.Cys24Arg)	GP9 (C24R)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +1 more	GPathogenic
Select item 13532	NM_000174.5(GP9):c.167T>C (p.Leu56Pro)	GP9 (L56P)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome type C	GPathogenic
Select item 13531	NM_000174.5(GP9):c.212T>C (p.Phe71Ser)	GP9 (F71S)	Single nucleotide variant (missense variant)	Macrothrombocytopenia +2 more	GPathogenic
Select item 13530	NM_000174.5(GP9):c.110A>G (p.Asp37Gly)	GP9 (D37G)	Single nucleotide variant (missense variant)	Bernard-Soulier syndrome type C	GPathogenic
Select item 13529	NM_000174.5(GP9):c.182A>G (p.Asn61Ser)	GP9 (N61S)	Single nucleotide variant (missense variant)	Bernard Soulier syndrome +3 more	GPathogenic/Likely pathogenic

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