"Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 828104	NM_001009944.3(PKD1):c.12391G>T (p.Glu4131Ter)	PKD1 (E4130* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 562323	NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp)	PKD1, PKD1-AS1 (R3753W +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 800773	NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1])	PKD1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 992998	NM_001009944.3(PKD1):c.7271C>G (p.Thr2424Arg)	PKD1 (T2424R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 992997	NM_001009944.3(PKD1):c.7063A>C (p.Thr2355Pro)	PKD1 (T2355P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 800836	NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser)	PKD1 (F594S)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance

ClinVar