CIROP[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	TRDC, TRDD1 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC130055370, LOC130055371 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	ABHD4, ACIN1 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 3054769	NM_001354640.2(CIROP):c.1992T>G (p.His664Gln)	CIROP (H609Q +1 more)	Single nucleotide variant (missense variant)	CIROP-related condition	GLikely benign
Select item 1335922	NM_001354640.2(CIROP):c.1364TCT[1] (p.Phe456del)	CIROP (F456del)	Microsatellite (inframe_deletion)	Heterotaxy, visceral, 12, autosomal	GPathogenic
Select item 1804116	NM_001354640.2(CIROP):c.1331dup (p.Leu444fs)	CIROP (L444fs)	Duplication (frameshift variant)	Heterotaxy, visceral, 12, autosomal	GLikely pathogenic
Select item 2644088	NM_001354640.2(CIROP):c.1281C>T (p.Ser427=)	CIROP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644089	NM_001354640.2(CIROP):c.1233C>T (p.Ile411=)	CIROP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1344488	NM_001354640.2(CIROP):c.1151C>T (p.Ser384Leu)	CIROP (S384L)	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 1344495	NM_001354640.2(CIROP):c.571C>T (p.Arg191Ter)	CIROP (R191*)	Single nucleotide variant (nonsense)	Heterotaxy, visceral, 12, autosomal	GPathogenic
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 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 1335920	NM_001354640.2(CIROP):c.92C>T (p.Ser31Phe)	CIROP (S31F)	Single nucleotide variant (missense variant)	CIROP-related condition	GLikely benign
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 2644090	NM_001354640.2(CIROP):c.33GCC[3] (p.Pro13_Leu14insPro)	CIROP	Microsatellite (inframe_insertion)	not provided	GLikely benign

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Items: 22