ClinVar for MedGen (Select 868749) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812907	Single allele	ABCG5	Deletion	Gingival bleeding +6 more	GLikely pathogenic
Select item 4155	NM_000173.7(GP1BA):c.763A>G (p.Met255Val)	GP1BA (M255V)	Single nucleotide variant (missense variant)	Impaired ristocetin-induced platelet aggregation +3 more	GPathogenic/Likely pathogenic