"Ambry Genetics"[submitter] AND "CCDC149"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2370251	NM_001395273.1(CCDC149):c.1597G>T (p.Val533Leu)	CCDC149 (V472L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374907	NM_001395273.1(CCDC149):c.1496A>C (p.Lys499Thr)	CCDC149 (K438T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271118	NM_001395273.1(CCDC149):c.1302G>C (p.Lys434Asn)	CCDC149 (K434N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263224	NM_001395273.1(CCDC149):c.1286G>C (p.Arg429Pro)	CCDC149 (R423P +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538258	NM_001395273.1(CCDC149):c.1258G>A (p.Ala420Thr)	CCDC149 (A420T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349449	NM_001395273.1(CCDC149):c.1235C>T (p.Ala412Val)	CCDC149 (A351V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360305	NM_001395273.1(CCDC149):c.1141G>C (p.Glu381Gln)	CCDC149 (E370Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597536	NM_001395273.1(CCDC149):c.1138G>A (p.Val380Ile)	CCDC149 (V319I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601045	NM_001395273.1(CCDC149):c.1135T>A (p.Phe379Ile)	CCDC149 (F318I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286974	NM_001395273.1(CCDC149):c.955C>G (p.Leu319Val)	CCDC149 (L269V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543568	NM_001395273.1(CCDC149):c.932A>G (p.His311Arg)	CCDC149 (H311R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225360	NM_001395273.1(CCDC149):c.746C>G (p.Ser249Trp)	CCDC149 (S254W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609145	NM_001395273.1(CCDC149):c.721A>G (p.Asn241Asp)	CCDC149 (N246D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370011	NM_001395273.1(CCDC149):c.539G>A (p.Arg180Gln)	CCDC149 (R130Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383482	NM_001395273.1(CCDC149):c.448C>A (p.Gln150Lys)	CCDC149 (Q150K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305840	NM_001395273.1(CCDC149):c.430G>A (p.Glu144Lys)	CCDC149 (E149K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218449	NM_001395273.1(CCDC149):c.391G>A (p.Gly131Arg)	CCDC149 (G131R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365793	NM_001395273.1(CCDC149):c.374T>C (p.Ile125Thr)	CCDC149 (I125T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261587	NM_001395273.1(CCDC149):c.358C>A (p.Leu120Ile)	CCDC149 (L120I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378407	NM_001395273.1(CCDC149):c.335G>A (p.Gly112Glu)	CCDC149 (G62E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326161	NM_001395273.1(CCDC149):c.275A>G (p.Asp92Gly)	CCDC149 (D42G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285695	NM_001395273.1(CCDC149):c.48+17811A>T	CCDC149 (T17S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 22