C4310668[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334059	NM_138295.5(PKD1L1):c.6396G>A (p.Trp2132Ter)	PKD1L1 (W2132*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 8, autosomal	GLikely pathogenic
Select item 1334058	NM_138295.5(PKD1L1):c.-15C>T	PKD1L1	Single nucleotide variant (5 prime UTR variant)	Heterotaxy, visceral, 8, autosomal	GUncertain significance