ClinVar for Gene (Select 203238) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3138859	NM_173550.4(CCDC171):c.749A>T (p.Asp250Val)	CCDC171 (D157V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138858	NM_173550.4(CCDC171):c.625C>G (p.Gln209Glu)	CCDC171 (Q116E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138857	NM_173550.4(CCDC171):c.596G>A (p.Arg199Lys)	CCDC171 (R199K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138855	NM_173550.4(CCDC171):c.3940A>G (p.Met1314Val)	CCDC171 (M1322V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138854	NM_173550.4(CCDC171):c.3562G>C (p.Glu1188Gln)	CCDC171 (E1103Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138853	NM_173550.4(CCDC171):c.3463C>T (p.His1155Tyr)	CCDC171 (H1155Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138852	NM_173550.4(CCDC171):c.3391A>G (p.Ser1131Gly)	CCDC171 (S1139G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138851	NM_173550.4(CCDC171):c.3330A>T (p.Arg1110Ser)	CCDC171 (R1025S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138850	NM_173550.4(CCDC171):c.3275C>T (p.Ser1092Phe)	CCDC171 (S1092F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138849	NM_173550.4(CCDC171):c.3178G>A (p.Ala1060Thr)	CCDC171 (A975T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138848	NM_173550.4(CCDC171):c.3143G>A (p.Arg1048Gln)	CCDC171 (R1048Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138847	NM_173550.4(CCDC171):c.3116G>T (p.Cys1039Phe)	CCDC171 (C1039F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138846	NM_173550.4(CCDC171):c.3077A>G (p.Gln1026Arg)	CCDC171 (Q1034R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138845	NM_173550.4(CCDC171):c.298C>T (p.Arg100Trp)	CCDC171 (R100W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3138843	NM_173550.4(CCDC171):c.2971C>T (p.Arg991Cys)	CCDC171 (R991C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138842	NM_173550.4(CCDC171):c.2938A>G (p.Thr980Ala)	CCDC171 (T988A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138841	NM_173550.4(CCDC171):c.2922G>C (p.Lys974Asn)	CCDC171 (K974N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138840	NM_173550.4(CCDC171):c.2897C>T (p.Thr966Met)	CCDC171 (T881M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138839	NM_173550.4(CCDC171):c.2663G>C (p.Gly888Ala)	CCDC171 (G803A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138838	NM_173550.4(CCDC171):c.2441T>C (p.Leu814Pro)	CCDC171 (L822P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138836	NM_173550.4(CCDC171):c.2175G>A (p.Met725Ile)	CCDC171 (M640I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138835	NM_173550.4(CCDC171):c.2006T>A (p.Leu669Gln)	CCDC171 (L669Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138834	NM_173550.4(CCDC171):c.19A>G (p.Ser7Gly)	CCDC171 (S7G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3138832	NM_173550.4(CCDC171):c.1837G>C (p.Asp613His)	CCDC171 (D528H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138831	NM_173550.4(CCDC171):c.1799G>A (p.Cys600Tyr)	CCDC171 (C600Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138830	NM_173550.4(CCDC171):c.1643C>G (p.Ser548Cys)	CCDC171 (S556C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138829	NM_173550.4(CCDC171):c.1403A>T (p.Lys468Met)	CCDC171 (K375M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138828	NM_173550.4(CCDC171):c.1379G>A (p.Arg460His)	CCDC171 (R367H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138826	NM_173550.4(CCDC171):c.1171T>C (p.Tyr391His)	CCDC171 (Y298H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138825	NM_173550.4(CCDC171):c.1141G>A (p.Val381Ile)	CCDC171 (V288I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138824	NM_173550.4(CCDC171):c.1109A>C (p.Lys370Thr)	CCDC171 (K277T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 2685337	GRCh37/hg19 9p24.1-22.3(chr9:8595338-15622555)x1	CCDC171, CER1 +10 more	Copy number loss	not provided	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 2659092	NM_173550.4(CCDC171):c.495A>G (p.Glu165=)	CCDC171	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659091	NM_173550.4(CCDC171):c.194G>A (p.Ser65Asn)	CCDC171 (S65N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2623905	NM_173550.4(CCDC171):c.679C>A (p.Gln227Lys)	CCDC171 (Q227K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621417	NM_173550.4(CCDC171):c.1216G>T (p.Ala406Ser)	CCDC171 (A313S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619282	NM_173550.4(CCDC171):c.467A>G (p.Asp156Gly)	CCDC171 (D63G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617101	NM_173550.4(CCDC171):c.2611G>T (p.Asp871Tyr)	CCDC171 (D879Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614667	NM_173550.4(CCDC171):c.260A>T (p.Asp87Val)	CCDC171 (D87V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2611927	NM_173550.4(CCDC171):c.188A>T (p.Tyr63Phe)	CCDC171 (Y63F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2600486	NM_173550.4(CCDC171):c.1349G>C (p.Ser450Thr)	CCDC171 (S357T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599885	NM_173550.4(CCDC171):c.1869T>A (p.His623Gln)	CCDC171 (H631Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596876	NM_173550.4(CCDC171):c.292G>A (p.Gly98Arg)	CCDC171 (G98R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2596875	NM_173550.4(CCDC171):c.1453A>C (p.Thr485Pro)	CCDC171 (T400P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591052	NM_173550.4(CCDC171):c.2788A>G (p.Ser930Gly)	CCDC171 (S930G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589780	NM_173550.4(CCDC171):c.2095A>G (p.Ile699Val)	CCDC171 (I614V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570353	NM_173550.4(CCDC171):c.175G>A (p.Glu59Lys)	CCDC171 (E59K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2569048	NM_173550.4(CCDC171):c.1742G>T (p.Cys581Phe)	CCDC171 (C496F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560102	NM_173550.4(CCDC171):c.1264A>G (p.Lys422Glu)	CCDC171 (K329E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544068	NM_173550.4(CCDC171):c.3308A>C (p.Gln1103Pro)	CCDC171 (Q1111P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532831	NM_173550.4(CCDC171):c.2588C>T (p.Ala863Val)	CCDC171 (A871V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528366	NM_173550.4(CCDC171):c.2059G>A (p.Glu687Lys)	CCDC171 (E687K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517143	NM_173550.4(CCDC171):c.3764G>A (p.Arg1255Gln)	CCDC171 (R1170Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512062	NM_173550.4(CCDC171):c.1330G>C (p.Asp444His)	CCDC171 (D351H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509142	NM_173550.4(CCDC171):c.227A>T (p.Lys76Met)	CCDC171 (K76M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2507610	NM_173550.4(CCDC171):c.454T>G (p.Leu152Val)	CCDC171 (L152V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494150	NM_173550.4(CCDC171):c.3317G>A (p.Arg1106His)	CCDC171 (R1114H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492290	NM_173550.4(CCDC171):c.437G>A (p.Arg146Lys)	CCDC171 (R146K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482364	NM_173550.4(CCDC171):c.56C>T (p.Ser19Leu)	CCDC171 (S19L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2475560	NM_173550.4(CCDC171):c.2988G>C (p.Glu996Asp)	CCDC171 (E1004D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469034	NM_173550.4(CCDC171):c.3775A>G (p.Asn1259Asp)	CCDC171 (N1174D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464124	NM_173550.4(CCDC171):c.2395C>T (p.Arg799Cys)	CCDC171 (R799C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461921	NM_173550.4(CCDC171):c.218A>T (p.Glu73Val)	CCDC171 (E73V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2393031	NM_173550.4(CCDC171):c.1228C>G (p.Gln410Glu)	CCDC171 (Q317E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383966	NM_173550.4(CCDC171):c.1600G>A (p.Val534Met)	CCDC171 (V534M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382092	NM_173550.4(CCDC171):c.1126G>A (p.Glu376Lys)	CCDC171 (E376K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381433	NM_173550.4(CCDC171):c.2810A>G (p.Asp937Gly)	CCDC171 (D937G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375581	NM_173550.4(CCDC171):c.2537A>G (p.Asp846Gly)	CCDC171 (D846G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363988	NM_173550.4(CCDC171):c.2656G>A (p.Val886Ile)	CCDC171 (V894I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360687	NM_173550.4(CCDC171):c.1172A>G (p.Tyr391Cys)	CCDC171 (Y298C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355131	NM_173550.4(CCDC171):c.2714C>G (p.Ala905Gly)	CCDC171 (A913G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347631	NM_173550.4(CCDC171):c.556A>G (p.Lys186Glu)	CCDC171 (K93E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337867	NM_173550.4(CCDC171):c.181G>T (p.Ala61Ser)	CCDC171 (A61S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2337578	NM_173550.4(CCDC171):c.1579T>A (p.Leu527Ile)	CCDC171 (L442I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322842	NM_173550.4(CCDC171):c.2278A>T (p.Asn760Tyr)	CCDC171 (N675Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311885	NM_173550.4(CCDC171):c.1137G>T (p.Lys379Asn)	CCDC171 (K286N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311836	NM_173550.4(CCDC171):c.3884C>T (p.Thr1295Ile)	CCDC171 (T1210I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305377	NM_173550.4(CCDC171):c.445G>C (p.Glu149Gln)	CCDC171 (E56Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299981	NM_173550.4(CCDC171):c.1852A>G (p.Asn618Asp)	CCDC171 (N533D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294396	NM_173550.4(CCDC171):c.718A>C (p.Lys240Gln)	CCDC171 (K240Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294395	NM_173550.4(CCDC171):c.1873G>C (p.Glu625Gln)	CCDC171 (E540Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289340	NM_173550.4(CCDC171):c.1494A>T (p.Glu498Asp)	CCDC171 (E413D +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2271409	NM_173550.4(CCDC171):c.2396G>A (p.Arg799His)	CCDC171 (R807H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260376	NM_173550.4(CCDC171):c.1844A>G (p.Asn615Ser)	CCDC171 (N530S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260076	NM_173550.4(CCDC171):c.3161T>A (p.Met1054Lys)	CCDC171 (M1054K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239436	NM_173550.4(CCDC171):c.3619A>G (p.Met1207Val)	CCDC171 (M1207V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234721	NM_173550.4(CCDC171):c.1663C>T (p.Leu555Phe)	CCDC171 (L563F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233151	NM_173550.4(CCDC171):c.709A>G (p.Lys237Glu)	CCDC171 (K144E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230365	NM_173550.4(CCDC171):c.3246A>C (p.Gln1082His)	CCDC171 (Q1082H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215916	NM_173550.4(CCDC171):c.2696A>G (p.His899Arg)	CCDC171 (H814R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211811	NM_173550.4(CCDC171):c.2600T>C (p.Leu867Pro)	CCDC171 (L782P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211810	NM_173550.4(CCDC171):c.2599C>G (p.Leu867Val)	CCDC171 (L782V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809071	GRCh37/hg19 9p22.3(chr9:15823399-15947615)x1	CCDC171	Copy number loss	not provided	GUncertain significance
Select item 1808046	GRCh37/hg19 9p22.3-21.3(chr9:15328600-20821644)x3	ACER2, ADAMTSL1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic

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