"3billion"[submitter] AND "SEPT5-GP1BB"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705376	NM_000407.5(GP1BB):c.2T>C (p.Met1Thr)	GP1BB, SEPT5-GP1BB (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	Bernard Soulier syndrome	GLikely pathogenic
Select item 1324499	NM_000407.5(GP1BB):c.423C>A (p.Cys141Ter)	GP1BB, SEPT5-GP1BB (C141*)	Single nucleotide variant (non-coding transcript variant +1 more)	Bernard Soulier syndrome	GLikely pathogenic