"Genetics and Molecular Pathology, SA Pathology"[submitter] AND "BMPR1 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664694	NM_004329.3(BMPR1A):c.176T>C (p.Leu59Ser)	BMPR1A (L31S +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile polyposis syndrome	GUncertain significance
Select item 825638	NM_004329.3(BMPR1A):c.531-1G>T	BMPR1A	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic