CCDC136[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	IMPDH1, AHCYL2 +106 more	Copy number gain	See cases	GLikely benign
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
Select item 2657988	NM_001201372.2(CCDC136):c.30A>C (p.Gly10=)	CCDC136	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2261564	NM_022742.5(CCDC136):c.58G>C (p.Glu20Gln)	CCDC136 (E20Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338073	NM_022742.5(CCDC136):c.115A>G (p.Ser39Gly)	CCDC136 (S39G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138358	NM_022742.5(CCDC136):c.191A>G (p.Gln64Arg)	CCDC136 (Q114R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263835	NM_022742.5(CCDC136):c.227G>A (p.Arg76Gln)	CCDC136 (R76Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263845	NM_022742.5(CCDC136):c.364C>T (p.Arg122Trp)	CCDC136 (R122W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526893	NM_022742.5(CCDC136):c.404A>C (p.Glu135Ala)	CCDC136 (E185A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138371	NM_022742.5(CCDC136):c.418G>A (p.Glu140Lys)	CCDC136 (E140K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260432	NM_022742.5(CCDC136):c.460C>T (p.Arg154Trp)	CCDC136 (R204W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383738	NM_022742.5(CCDC136):c.474G>T (p.Glu158Asp)	CCDC136 (E158D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353548	NM_022742.5(CCDC136):c.520G>T (p.Asp174Tyr)	CCDC136 (D174Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222930	NM_022742.5(CCDC136):c.530G>A (p.Arg177Gln)	CCDC136 (R177Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138372	NM_022742.5(CCDC136):c.554T>G (p.Met185Arg)	CCDC136 (M235R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557002	NM_022742.5(CCDC136):c.559C>T (p.Arg187Cys)	CCDC136 (R187C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403390	NM_022742.5(CCDC136):c.589G>A (p.Ala197Thr)	CCDC136 (A247T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3263834	NM_022742.5(CCDC136):c.598C>T (p.Arg200Cys)	CCDC136 (R200C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515895	NM_022742.5(CCDC136):c.634G>A (p.Gly212Ser)	CCDC136 (E262K +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 719137	NM_022742.5(CCDC136):c.652G>C (p.Asp218His)	CCDC136 (D268H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 719138	NM_022742.5(CCDC136):c.663G>C (p.Gly221=)	CCDC136	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3138373	NM_022742.5(CCDC136):c.688C>T (p.Arg230Trp)	CCDC136 (R268W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249157	NM_022742.5(CCDC136):c.745A>G (p.Ser249Gly)	CCDC136 (S287G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213254	NM_022742.5(CCDC136):c.752C>T (p.Thr251Met)	CCDC136 (T251M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515418	NM_022742.5(CCDC136):c.860T>C (p.Met287Thr)	CCDC136 (M325T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462018	NM_022742.5(CCDC136):c.874C>T (p.Pro292Ser)	CCDC136 (P342S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138374	NM_022742.5(CCDC136):c.955G>A (p.Glu319Lys)	CCDC136 (E319K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556746	NM_022742.5(CCDC136):c.991C>T (p.Arg331Cys)	CCDC136 (R331C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615841	NM_022742.5(CCDC136):c.1018C>T (p.Arg340Trp)	CCDC136 (R340W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492415	NM_022742.5(CCDC136):c.1046A>G (p.Gln349Arg)	CCDC136 (Q399R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025090	NM_022742.5(CCDC136):c.1158C>T (p.Asn386=)	CCDC136	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3138353	NM_022742.5(CCDC136):c.1220C>G (p.Ser407Cys)	CCDC136 (S445C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263843	NM_022742.5(CCDC136):c.1261C>T (p.Arg421Trp)	CCDC136 (R471W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 778363	NM_022742.5(CCDC136):c.1294G>A (p.Val432Ile)	CCDC136 (V482I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2602742	NM_022742.5(CCDC136):c.1400T>A (p.Phe467Tyr)	CCDC136 (F517Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3138355	NM_022742.5(CCDC136):c.1595G>T (p.Cys532Phe)	CCDC136 (C570F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3138356	NM_022742.5(CCDC136):c.1730A>C (p.Glu577Ala)	CCDC136 (E615A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 780706	NM_022742.5(CCDC136):c.1848G>C (p.Leu616=)	CCDC136	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2330621	NM_022742.5(CCDC136):c.1953G>C (p.Glu651Asp)	CCDC136 (E651D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263842	NM_022742.5(CCDC136):c.1984G>A (p.Asp662Asn)	CCDC136 (D700N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263840	NM_022742.5(CCDC136):c.1985A>G (p.Asp662Gly)	CCDC136 (D700G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 791272	NM_022742.5(CCDC136):c.2061C>T (p.Ala687=)	CCDC136	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2336520	NM_022742.5(CCDC136):c.2138G>A (p.Arg713Gln)	CCDC136 (R713Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138359	NM_022742.5(CCDC136):c.2141A>T (p.Lys714Met)	CCDC136 (K752M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138360	NM_022742.5(CCDC136):c.2170C>A (p.Leu724Met)	CCDC136 (L724M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365855	NM_022742.5(CCDC136):c.2233G>A (p.Gly745Arg)	CCDC136 (G795R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3138361	NM_022742.5(CCDC136):c.2284T>C (p.Tyr762His)	CCDC136 (Y800H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491101	NM_022742.5(CCDC136):c.2312G>A (p.Ser771Asn)	CCDC136 (S771N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GLikely benign
Select item 3138362	NM_022742.5(CCDC136):c.2585C>T (p.Ala862Val)	CCDC136 (A862V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138363	NM_022742.5(CCDC136):c.2596A>G (p.Met866Val)	CCDC136 (M866V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479942	NM_022742.5(CCDC136):c.2657C>T (p.Ala886Val)	CCDC136 (A924V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232118	NM_022742.5(CCDC136):c.2679A>C (p.Glu893Asp)	CCDC136 (E893D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263844	NM_022742.5(CCDC136):c.2741C>T (p.Ala914Val)	CCDC136 (A914V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3138364	NM_022742.5(CCDC136):c.2765T>C (p.Ile922Thr)	CCDC136 (I922T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657989	NM_022742.5(CCDC136):c.2853G>A (p.Glu951=)	CCDC136	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2610158	NM_022742.5(CCDC136):c.2914C>G (p.Pro972Ala)	CCDC136 (P1022A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719139	NM_022742.5(CCDC136):c.2938G>A (p.Gly980Arg)	CCDC136 (G1030R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2375564	NM_022742.5(CCDC136):c.2939G>C (p.Gly980Ala)	CCDC136 (G980A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2657990	NM_022742.5(CCDC136):c.3027C>T (p.Ser1009=)	CCDC136	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3138365	NM_022742.5(CCDC136):c.3059T>C (p.Val1020Ala)	CCDC136 (V1020A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263841	NM_022742.5(CCDC136):c.3137A>G (p.Glu1046Gly)	CCDC136 (E1046G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3138366	NM_022742.5(CCDC136):c.3157G>A (p.Glu1053Lys)	CCDC136 (E1053K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263836	NM_022742.5(CCDC136):c.3176G>C (p.Gly1059Ala)	CCDC136 (G1059A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263839	NM_022742.5(CCDC136):c.3187G>C (p.Val1063Leu)	CCDC136 (V1113L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 780707	NM_022742.5(CCDC136):c.3261A>G (p.Glu1087=)	CCDC136	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 736772	NM_022742.5(CCDC136):c.3290A>G (p.Glu1097Gly)	CCDC136 (E1147G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3138367	NM_022742.5(CCDC136):c.3304G>A (p.Asp1102Asn)	CCDC136 (D1102N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3138368	NM_022742.5(CCDC136):c.3352G>C (p.Glu1118Gln)	CCDC136 (E1118Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3138369	NM_022742.5(CCDC136):c.3433C>T (p.Leu1145Phe)	CCDC136 (L609F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245743	NC_000007.13:g.(?_128388409)_(128694824_?)del	ATP6V1F, CALU +6 more	Deletion	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic

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