ClinVar for MedGen (Select 1803695) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2582479	NM_001354640.2(CIROP):c.203A>G (p.Tyr68Cys)	CIROP (Y68C)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 12, autosomal	GUncertain significance
Select item 2442172	NM_001354640.2(CIROP):c.64C>T (p.Arg22Ter)	CIROP (R22*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 12, autosomal	GUncertain significance
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
Select item 1344495	NM_001354640.2(CIROP):c.571C>T (p.Arg191Ter)	CIROP (R191*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 12, autosomal	GPathogenic
Select item 1344493	NM_001354640.2(CIROP):c.1166G>T (p.Arg389Ile)	CIROP (R389I)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 12, autosomal	GPathogenic
Select item 1344490	NM_001354640.2(CIROP):c.1037G>A (p.Trp346Ter)	CIROP (W346*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 12, autosomal	GPathogenic
Select item 1344488	NM_001354640.2(CIROP):c.1151C>T (p.Ser384Leu)	CIROP (S384L)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 12, autosomal	GPathogenic
Select item 1335922	NM_001354640.2(CIROP):c.1364TCT[1] (p.Phe456del)	CIROP (F456del)	Microsatellite (inframe_deletion)	Heterotaxy, visceral, 12, autosomal	GPathogenic
Select item 1335920	NM_001354640.2(CIROP):c.92C>T (p.Ser31Phe)	CIROP (S31F)	Single nucleotide variant (missense variant)	CIROP-related condition	GLikely benign