"Cavalleri Lab, Royal College of Surgeons in Ireland"[submitter] AND " - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 873388	NM_000297.4(PKD2):c.196_199dup (p.Pro67fs)	LOC129992813, PKD2 (P67fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2 +1 more	GPathogenic
Select item 873403	NM_000297.4(PKD2):c.405del (p.Ala136fs)	LOC129992813, PKD2 (A136fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic