C4310668[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434873	NM_138295.5(PKD1L1):c.8059C>T (p.Pro2687Ser)	PKD1L1, PKD1L1-AS1 (P2687S)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 2283428	NM_138295.5(PKD1L1):c.7718A>G (p.Tyr2573Cys)	PKD1L1, PKD1L1-AS1 (Y2573C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2434875	NM_138295.5(PKD1L1):c.6848C>T (p.Ala2283Val)	PKD1L1 (A2283V)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 2690673	NM_138295.5(PKD1L1):c.6124del (p.His2042fs)	PKD1L1 (H2042fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 8, autosomal	GLikely pathogenic
Select item 2365858	NM_138295.5(PKD1L1):c.5378C>T (p.Pro1793Leu)	PKD1L1 (P1793L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1324916	NM_138295.5(PKD1L1):c.5086_5087del (p.Lys1696fs)	PKD1L1 (K1696fs)	Deletion (frameshift variant)	Heterotaxy, visceral, 8, autosomal	GLikely pathogenic
Select item 2434874	NM_138295.5(PKD1L1):c.2325_2326delinsAG (p.Arg776Gly)	PKD1L1 (R776G)	Indel (missense variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance
Select item 2434872	NM_138295.5(PKD1L1):c.1606C>T (p.Leu536=)	PKD1L1	Single nucleotide variant (synonymous variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance

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