ClinVar for MedGen (Select 869157) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188369	NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	LOC126859690, PKHD1 (R1624W)	Single nucleotide variant (missense variant)	Autosomal recessive polycystic kidney disease +4 more	GPathogenic/Likely pathogenic
Select item 167499	NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter)	PKHD1 (R124*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +4 more	GPathogenic