"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126859690"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1304574	NM_138694.4(PKHD1):c.5231A>G (p.Asn1744Ser)	LOC126859690, PKHD1 (N1744S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance
Select item 414167	NM_138694.4(PKHD1):c.5226G>A (p.Thr1742=)	LOC126859690, PKHD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease 4 +1 more	GLikely benign
Select item 960317	NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter)	PKHD1, LOC126859690 (S1690*)	Single nucleotide variant (nonsense)	Autosomal recessive polycystic kidney disease +1 more	GPathogenic/Likely pathogenic
Select item 828078	NM_138694.4(PKHD1):c.5059A>G (p.Ile1687Val)	LOC126859690, PKHD1 (I1687V)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4	GUncertain significance
Select item 188369	NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)	LOC126859690, PKHD1 (R1624W)	Single nucleotide variant (missense variant)	Abnormal intrahepatic bile duct morphology +5 more	GPathogenic/Likely pathogenic
Select item 636682	NM_138694.4(PKHD1):c.4855G>T (p.Gly1619Cys)	LOC126859690, PKHD1 (G1619C)	Single nucleotide variant (missense variant)	Polycystic kidney disease 4 +1 more	GUncertain significance

ClinVar