"Ambry Genetics"[submitter] AND "CIAO3"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3144883	NM_022493.3(CIAO3):c.1423C>T (p.Arg475Trp)	CIAO3 (R475W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144882	NM_022493.3(CIAO3):c.1409C>G (p.Thr470Ser)	CIAO3 (T470S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532290	NM_022493.3(CIAO3):c.1402G>A (p.Ala468Thr)	CIAO3 (A366T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479873	NM_022493.3(CIAO3):c.1379C>T (p.Thr460Met)	CIAO3 (T358M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458403	NM_022493.3(CIAO3):c.1355A>G (p.Glu452Gly)	CIAO3 (E350G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144880	NM_022493.3(CIAO3):c.1150C>T (p.Arg384Cys)	CIAO3 (R282C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612367	NM_022493.3(CIAO3):c.1145G>A (p.Arg382Gln)	CIAO3 (R280Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 623435	NM_022493.3(CIAO3):c.1112G>A (p.Arg371His)	CIAO3 (R371H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144894	NM_022493.3(CIAO3):c.979G>A (p.Ala327Thr)	CIAO3 (A225T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144893	NM_022493.3(CIAO3):c.973C>T (p.Arg325Trp)	CIAO3 (R223W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144892	NM_022493.3(CIAO3):c.947C>T (p.Ser316Leu)	CIAO3 (S214L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144891	NM_022493.3(CIAO3):c.934C>T (p.Arg312Trp)	CIAO3 (R210W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596237	NM_022493.3(CIAO3):c.904G>A (p.Gly302Ser)	CIAO3 (G302S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144890	NM_022493.3(CIAO3):c.811G>A (p.Val271Ile)	CIAO3 (V169I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144889	NM_022493.3(CIAO3):c.779A>G (p.Asn260Ser)	CIAO3 (N260S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144888	NM_022493.3(CIAO3):c.721G>A (p.Val241Ile)	CIAO3 (V241I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459987	NM_022493.3(CIAO3):c.667G>C (p.Val223Leu)	CIAO3 (V223L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144887	NM_022493.3(CIAO3):c.638G>A (p.Arg213Gln)	CIAO3 (R213Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460756	NM_022493.3(CIAO3):c.511C>T (p.Arg171Trp)	CIAO3 (R69W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523686	NM_022493.3(CIAO3):c.500G>A (p.Arg167Gln)	CIAO3 (R65Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529921	NM_022493.3(CIAO3):c.379C>T (p.Arg127Trp)	CIAO3 (R127W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144885	NM_022493.3(CIAO3):c.235A>T (p.Thr79Ser)	CIAO3 (T79S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2457859	NM_022493.3(CIAO3):c.226G>A (p.Gly76Ser)	CIAO3 (G76S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144884	NM_022493.3(CIAO3):c.208G>A (p.Asp70Asn)	CIAO3 (D70N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2554839	NM_022493.3(CIAO3):c.140G>C (p.Gly47Ala)	CIAO3 (G47A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3144881	NM_022493.3(CIAO3):c.125G>A (p.Arg42His)	CIAO3 (R42H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3144886	NM_022493.3(CIAO3):c.58C>G (p.Pro20Ala)	CIAO3 (P20A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2481887	NM_022493.3(CIAO3):c.52A>T (p.Ile18Phe)	CIAO3 (I18F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2534964	NM_022493.3(CIAO3):c.22G>A (p.Ala8Thr)	CIAO3 (A8T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 29