"OMIM"[submitter] AND "LOC129992813"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 477627	NM_000297.4(PKD2):c.203dup (p.Ala69fs)	LOC129992813, PKD2 (A69fs)	Duplication (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic
Select item 40115	NM_000297.4(PKD2):c.306_307insAGG (p.Glu102_Val103insArg)	LOC129992813, PKD2	Insertion (inframe_insertion +1 more)	Polycystic kidney disease 2	GPathogenic