"Ambry Genetics"[submitter] AND "CCDC136"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2261564	NM_022742.5(CCDC136):c.58G>C (p.Glu20Gln)	CCDC136 (E20Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338073	NM_022742.5(CCDC136):c.115A>G (p.Ser39Gly)	CCDC136 (S39G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526893	NM_022742.5(CCDC136):c.404A>C (p.Glu135Ala)	CCDC136 (E185A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260432	NM_022742.5(CCDC136):c.460C>T (p.Arg154Trp)	CCDC136 (R204W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383738	NM_022742.5(CCDC136):c.474G>T (p.Glu158Asp)	CCDC136 (E158D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353548	NM_022742.5(CCDC136):c.520G>T (p.Asp174Tyr)	CCDC136 (D174Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222930	NM_022742.5(CCDC136):c.530G>A (p.Arg177Gln)	CCDC136 (R177Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557002	NM_022742.5(CCDC136):c.559C>T (p.Arg187Cys)	CCDC136 (R187C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403390	NM_022742.5(CCDC136):c.589G>A (p.Ala197Thr)	CCDC136 (A247T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2515895	NM_022742.5(CCDC136):c.634G>A (p.Gly212Ser)	CCDC136 (E262K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2249157	NM_022742.5(CCDC136):c.745A>G (p.Ser249Gly)	CCDC136 (S287G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213254	NM_022742.5(CCDC136):c.752C>T (p.Thr251Met)	CCDC136 (T251M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515418	NM_022742.5(CCDC136):c.860T>C (p.Met287Thr)	CCDC136 (M325T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462018	NM_022742.5(CCDC136):c.874C>T (p.Pro292Ser)	CCDC136 (P342S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556746	NM_022742.5(CCDC136):c.991C>T (p.Arg331Cys)	CCDC136 (R331C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615841	NM_022742.5(CCDC136):c.1018C>T (p.Arg340Trp)	CCDC136 (R340W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492415	NM_022742.5(CCDC136):c.1046A>G (p.Gln349Arg)	CCDC136 (Q399R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396955	NM_022742.5(CCDC136):c.1287C>G (p.His429Gln)	CCDC136 (H467Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254132	NM_022742.5(CCDC136):c.1291A>C (p.Asn431His)	CCDC136 (N431H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602742	NM_022742.5(CCDC136):c.1400T>A (p.Phe467Tyr)	CCDC136 (F517Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231828	NM_022742.5(CCDC136):c.1402A>G (p.Lys468Glu)	CCDC136 (K468E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602743	NM_022742.5(CCDC136):c.1407G>C (p.Glu469Asp)	CCDC136 (E519D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463635	NM_022742.5(CCDC136):c.1415A>G (p.Glu472Gly)	CCDC136 (E510G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488892	NM_022742.5(CCDC136):c.1490G>A (p.Arg497Gln)	CCDC136 (R497Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204791	NM_022742.5(CCDC136):c.1595G>A (p.Cys532Tyr)	CCDC136 (C582Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492735	NM_022742.5(CCDC136):c.1700T>C (p.Leu567Pro)	CCDC136 (L567P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306969	NM_022742.5(CCDC136):c.1729G>A (p.Glu577Lys)	CCDC136 (E615K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215983	NM_022742.5(CCDC136):c.1762C>T (p.Leu588Phe)	CCDC136 (L638F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236352	NM_022742.5(CCDC136):c.1803T>A (p.Ser601Arg)	CCDC136 (S639R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330621	NM_022742.5(CCDC136):c.1953G>C (p.Glu651Asp)	CCDC136 (E651D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458901	NM_022742.5(CCDC136):c.2045T>G (p.Met682Arg)	CCDC136 (M682R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336520	NM_022742.5(CCDC136):c.2138G>A (p.Arg713Gln)	CCDC136 (R713Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365855	NM_022742.5(CCDC136):c.2233G>A (p.Gly745Arg)	CCDC136 (G795R +2 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2491101	NM_022742.5(CCDC136):c.2312G>A (p.Ser771Asn)	CCDC136 (S771N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273272	NM_022742.5(CCDC136):c.2321A>T (p.Lys774Met)	CCDC136 (K812M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286814	NM_022742.5(CCDC136):c.2324G>C (p.Ser775Thr)	CCDC136 (S825T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403471	NM_022742.5(CCDC136):c.2434A>G (p.Ile812Val)	CCDC136 (I862V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2479942	NM_022742.5(CCDC136):c.2657C>T (p.Ala886Val)	CCDC136 (A924V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232118	NM_022742.5(CCDC136):c.2679A>C (p.Glu893Asp)	CCDC136 (E893D +2 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400579	NM_022742.5(CCDC136):c.2752G>A (p.Asp918Asn)	CCDC136 (D918N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610158	NM_022742.5(CCDC136):c.2914C>G (p.Pro972Ala)	CCDC136 (P1022A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375564	NM_022742.5(CCDC136):c.2939G>C (p.Gly980Ala)	CCDC136 (G980A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384229	NM_022742.5(CCDC136):c.3011C>T (p.Ser1004Leu)	CCDC136 (S1054L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2219321	NM_022742.5(CCDC136):c.3025A>C (p.Ser1009Arg)	CCDC136 (S1009R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260345	NM_022742.5(CCDC136):c.3147A>T (p.Gln1049His)	CCDC136 (Q1049H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405919	NM_022742.5(CCDC136):c.3325G>A (p.Glu1109Lys)	CCDC136 (E1109K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469170	NM_022742.5(CCDC136):c.3329A>G (p.Glu1110Gly)	CCDC136 (E1160G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 47