C4540575[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198314	NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)	PKHD1 (Q3407*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +2 more	GPathogenic
Select item 1709703	NM_138694.4(PKHD1):c.7400T>C (p.Leu2467Pro)	PKHD1 (L2467P)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 1709895	NM_138694.4(PKHD1):c.6332+3A>C	PKHD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 4	GUncertain significance
Select item 551421	NM_138694.4(PKHD1):c.3228+1G>T	PKHD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 4 +1 more	GPathogenic/Likely pathogenic
Select item 1709790	NM_138694.4(PKHD1):c.3192C>A (p.Ser1064Arg)	PKHD1 (S1064R)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 1709233	NM_138694.4(PKHD1):c.131-2A>T	PKHD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease 4	GLikely pathogenic
Select item 4108	NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	PKHD1 (T36M)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +7 more	GPathogenic/Likely pathogenic

ClinVar