"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CIAO3"[ - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 790158	NM_022493.3(CIAO3):c.1338G>A (p.Leu446=)	CIAO3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723437	NM_022493.3(CIAO3):c.1303G>A (p.Ala435Thr)	CIAO3 (A333T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 718886	NM_022493.3(CIAO3):c.1273G>A (p.Gly425Ser)	CIAO3 (G425S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717459	NM_022493.3(CIAO3):c.1193-9C>T	CIAO3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 737200	NM_022493.3(CIAO3):c.693+9G>A	CIAO3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 721907	NM_022493.3(CIAO3):c.274G>A (p.Glu92Lys)	CIAO3 (E92K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 714677	NM_022493.3(CIAO3):c.112G>A (p.Val38Met)	CIAO3 (V38M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	C1QTNF8, CACNA1H +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	MRPL28, MSLN +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	ABCA3, ADCY9 +170 more	Duplication	Hyperaldosteronism, familial, type IV +3 more	GUncertain significance
Select item 1047658	NC_000016.9:g.(?_765584)_(1204036_?)del	CHTF18, CIAO3 +13 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	CCDC78, ANTKMT +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	IGFALS, MRPS34 +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	CCDC78, CHTF18 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	ANTKMT, BAIAP3 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic