"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 770185	NM_138295.5(PKD1L1):c.6898G>A (p.Val2300Ile)	PKD1L1 (V2300I)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal +2 more	GBenign/Likely benign
Select item 2920785	NM_138295.5(PKD1L1):c.6748C>T (p.Arg2250Ter)	PKD1L1 (R2250*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 8, autosomal	GLikely pathogenic
Select item 776225	NM_138295.5(PKD1L1):c.6113C>G (p.Thr2038Ser)	PKD1L1 (T2038S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal +1 more	GBenign
Select item 2038534	NM_138295.5(PKD1L1):c.2667G>A (p.Ser889=)	PKD1L1	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 8, autosomal +1 more	GBenign
Select item 2152049	NM_138295.5(PKD1L1):c.2005A>G (p.Ile669Val)	PKD1L1 (I669V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal +1 more	GConflicting classifications of pathogenicity
Select item 786106	NM_138295.5(PKD1L1):c.933T>C (p.Arg311=)	PKD1L1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

ClinVar