C0085548[trait identifier] AND "Institute of Human Genetics, Cologne U - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 625155	NM_138694.4(PKHD1):c.9829+1G>A	PKHD1	Single nucleotide variant (splice donor variant)	Autosomal recessive polycystic kidney disease	GLikely pathogenic
Select item 827767	NM_138694.4(PKHD1):c.2853C>A (p.Thr951=)	PKHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive polycystic kidney disease	GUncertain significance