C5676898[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1804116	NM_001354640.2(CIROP):c.1331dup (p.Leu444fs)	CIROP (L444fs)	Duplication (frameshift variant)	Heterotaxy, visceral, 12, autosomal	GLikely pathogenic
Select item 1804115	NM_001354640.2(CIROP):c.538G>C (p.Gly180Arg)	CIROP (G180R +1 more)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 12, autosomal	GUncertain significance