ClinVar for MedGen (Select 863355) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 801472	NM_002840.5(PTPRF):c.5190C>A (p.His1730Gln)	PTPRF (H1426Q +5 more)	Single nucleotide variant (missense variant)	Breasts and/or nipples, aplasia or hypoplasia of, 2	GUncertain significance
Select item 155912	NM_002840.5(PTPRF):c.1847_1848del (p.Val616fs)	PTPRF (V616fs)	Microsatellite (frameshift variant +1 more)	Breasts and/or nipples, aplasia or hypoplasia of, 2	GPathogenic