"Stefan Somlo Laboratory, Yale School of Medicine"[submitter] AND "ALG - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 638634	NM_024740.2(ALG9):c.1550G>T (p.Arg517Leu)	ALG9 (R517L +6 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease	GBenign
Select item 631493	NM_024740.2(ALG9):c.1109G>A (p.Arg370Lys)	ALG9 (R370K +4 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease +1 more	GPathogenic
Select item 638633	NM_024740.2(ALG9):c.944A>G (p.Asn315Ser)	ALG9 (N315S +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant polycystic liver disease	GBenign
Select item 638635	NM_024740.2(ALG9):c.839C>T (p.Ala280Val)	ALG9 (A280V +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic liver disease	GBenign
Select item 96135	NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)	ALG9 (A232P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 631494	NM_024740.2(ALG9):c.681G>A (p.Trp227Ter)	ALG9 (W227* +2 more)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease, adult type	GPathogenic

ClinVar