C0085548[trait identifier] AND "Rady Children's Institute for Genomic - 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 188746	NM_138694.4(PKHD1):c.3766del (p.Gln1256fs)	PKHD1 (Q1256fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +2 more	GConflicting classifications of pathogenicity
Select item 594678	NM_138694.4(PKHD1):c.383del (p.Thr128fs)	PKHD1 (T128fs)	Deletion (frameshift variant)	Polycystic kidney disease 4 +2 more	GPathogenic