UNC13C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	LOC130057143, LOC130057144 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 148521	GRCh38/hg38 15q21.3(chr15:53840387-54803037)x3	LOC126862134, LOC126862135 +10 more	Copy number gain	See cases	GLikely benign
Select item 2310606	NM_001080534.3(UNC13C):c.5T>C (p.Val2Ala)	UNC13C (V2A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491832	NM_001080534.3(UNC13C):c.214A>T (p.Thr72Ser)	UNC13C (T72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186512	NM_001080534.3(UNC13C):c.271A>G (p.Thr91Ala)	UNC13C (T91A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982686	NM_001080534.3(UNC13C):c.283C>T (p.Arg95Ter)	UNC13C (R95*)	Single nucleotide variant (nonsense)	Abnormal finger morphology +4 more	GUncertain significance
Select item 2410656	NM_001080534.3(UNC13C):c.287T>A (p.Val96Glu)	UNC13C (V96E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272226	NM_001080534.3(UNC13C):c.367A>T (p.Ile123Phe)	UNC13C (I123F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604091	NM_001080534.3(UNC13C):c.477C>G (p.Ser159Arg)	UNC13C (S159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186521	NM_001080534.3(UNC13C):c.521A>C (p.His174Pro)	UNC13C (H174P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186528	NM_001080534.3(UNC13C):c.604A>G (p.Thr202Ala)	UNC13C (T202A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307322	NM_001080534.3(UNC13C):c.631A>G (p.Ser211Gly)	UNC13C (S211G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186530	NM_001080534.3(UNC13C):c.644A>G (p.Asp215Gly)	UNC13C (D215G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312516	NM_001080534.3(UNC13C):c.656G>A (p.Arg219Gln)	UNC13C (R219Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601674	NM_001080534.3(UNC13C):c.692G>A (p.Ser231Asn)	UNC13C (S231N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186532	NM_001080534.3(UNC13C):c.693T>A (p.Ser231Arg)	UNC13C (S231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266480	NM_001080534.3(UNC13C):c.735G>T (p.Met245Ile)	UNC13C (M245I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186533	NM_001080534.3(UNC13C):c.778C>G (p.Leu260Val)	UNC13C (L260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186534	NM_001080534.3(UNC13C):c.799G>A (p.Val267Ile)	UNC13C (V267I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186535	NM_001080534.3(UNC13C):c.823G>A (p.Asp275Asn)	UNC13C (D275N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645361	NM_001080534.3(UNC13C):c.912C>G (p.Asp304Glu)	UNC13C (D304E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2530548	NM_001080534.3(UNC13C):c.998A>G (p.Tyr333Cys)	UNC13C (Y333C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186503	NM_001080534.3(UNC13C):c.1046C>T (p.Ser349Leu)	UNC13C (S349L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538450	NM_001080534.3(UNC13C):c.1057A>G (p.Asn353Asp)	UNC13C (N353D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297876	NM_001080534.3(UNC13C):c.1083G>T (p.Gln361His)	UNC13C (Q361H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338146	NM_001080534.3(UNC13C):c.1162G>A (p.Asp388Asn)	UNC13C (D388N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186505	NM_001080534.3(UNC13C):c.1173A>T (p.Leu391Phe)	UNC13C (L391F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209331	NM_001080534.3(UNC13C):c.1258G>C (p.Gly420Arg)	UNC13C (G420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 427849	NM_001080534.3(UNC13C):c.1326GAA[1] (p.Lys443del)	UNC13C (K443del)	Microsatellite (inframe_deletion)	Alzheimer disease	GUncertain significance
Select item 3186506	NM_001080534.3(UNC13C):c.1332C>G (p.Asn444Lys)	UNC13C (N444K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262270	NM_001080534.3(UNC13C):c.1552G>C (p.Asp518His)	UNC13C (D518H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375224	NM_001080534.3(UNC13C):c.1586C>A (p.Ala529Glu)	UNC13C (A529E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533591	NM_001080534.3(UNC13C):c.1635A>T (p.Lys545Asn)	UNC13C (K545N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248688	NM_001080534.3(UNC13C):c.1738T>C (p.Ser580Pro)	UNC13C (S580P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186508	NM_001080534.3(UNC13C):c.1751G>A (p.Arg584Gln)	UNC13C (R584Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600708	NM_001080534.3(UNC13C):c.1764G>C (p.Gln588His)	UNC13C (Q588H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250119	NM_001080534.3(UNC13C):c.1809C>A (p.Asp603Glu)	UNC13C (D603E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612998	NM_001080534.3(UNC13C):c.1886T>C (p.Met629Thr)	UNC13C (M629T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238180	NM_001080534.3(UNC13C):c.1969T>C (p.Trp657Arg)	UNC13C (W657R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186509	NM_001080534.3(UNC13C):c.2047C>T (p.Leu683Phe)	UNC13C (L683F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289030	NM_001080534.3(UNC13C):c.2191C>G (p.Gln731Glu)	UNC13C (Q731E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312820	NM_001080534.3(UNC13C):c.2203G>A (p.Val735Ile)	UNC13C (V735I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186510	NM_001080534.3(UNC13C):c.2248T>C (p.Tyr750His)	UNC13C (Y750H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396223	NM_001080534.3(UNC13C):c.2282G>A (p.Arg761Gln)	UNC13C (R761Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 493160	NM_001080534.3(UNC13C):c.2374T>C (p.Phe792Leu)	UNC13C (F792L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2537482	NM_001080534.3(UNC13C):c.2462G>T (p.Gly821Val)	UNC13C (G821V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474846	NM_001080534.3(UNC13C):c.2492G>T (p.Gly831Val)	UNC13C (G831V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525151	NM_001080534.3(UNC13C):c.2561C>T (p.Thr854Met)	UNC13C (T854M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186511	NM_001080534.3(UNC13C):c.2621A>G (p.Asn874Ser)	UNC13C (N874S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609786	NM_001080534.3(UNC13C):c.2749C>T (p.Pro917Ser)	UNC13C (P917S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358681	NM_001080534.3(UNC13C):c.2756A>T (p.Asp919Val)	UNC13C (D919V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492541	NM_001080534.3(UNC13C):c.2878G>A (p.Val960Met)	UNC13C (V960M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286730	NM_001080534.3(UNC13C):c.3086T>C (p.Leu1029Pro)	UNC13C (L1029P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645362	NM_001080534.3(UNC13C):c.3099C>T (p.Asp1033=)	UNC13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2587936	NM_001080534.3(UNC13C):c.3115C>T (p.Arg1039Cys)	UNC13C (R1039C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368684	NM_001080534.3(UNC13C):c.3204G>C (p.Arg1068Ser)	UNC13C (R1066S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460969	NM_001080534.3(UNC13C):c.3274A>G (p.Met1092Val)	UNC13C (M1092V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280992	NM_001080534.3(UNC13C):c.3461A>G (p.Lys1154Arg)	UNC13C (K1152R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313822	NM_001080534.3(UNC13C):c.3532A>G (p.Arg1178Gly)	UNC13C (R1178G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476896	NM_001080534.3(UNC13C):c.3538A>G (p.Lys1180Glu)	UNC13C (K1178E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288851	NM_001080534.3(UNC13C):c.3582G>C (p.Gln1194His)	UNC13C (Q1192H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516920	NM_001080534.3(UNC13C):c.3833C>T (p.Ser1278Phe)	UNC13C (S1278F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337018	NM_001080534.3(UNC13C):c.3902T>A (p.Phe1301Tyr)	UNC13C (F1299Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395003	NM_001080534.3(UNC13C):c.4046A>G (p.Glu1349Gly)	UNC13C (E1349G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205637	NM_001080534.3(UNC13C):c.4069G>C (p.Ala1357Pro)	UNC13C (A1355P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336747	NM_001080534.3(UNC13C):c.4138A>G (p.Asn1380Asp)	UNC13C (N1380D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239043	NM_001080534.3(UNC13C):c.4387G>T (p.Val1463Phe)	UNC13C (V1461F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338623	NM_001080534.3(UNC13C):c.4483T>C (p.Ser1495Pro)	UNC13C (S1495P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186514	NM_001080534.3(UNC13C):c.4493G>A (p.Arg1498Lys)	UNC13C (R1498K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482480	NM_001080534.3(UNC13C):c.4562G>A (p.Ser1521Asn)	UNC13C (S1521N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186515	NM_001080534.3(UNC13C):c.4609A>G (p.Lys1537Glu)	UNC13C (K1537E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186516	NM_001080534.3(UNC13C):c.4664A>G (p.Lys1555Arg)	UNC13C (K1553R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263257	NM_001080534.3(UNC13C):c.4712C>T (p.Pro1571Leu)	UNC13C (P1569L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296672	NM_001080534.3(UNC13C):c.4726G>C (p.Asp1576His)	UNC13C (D1574H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325055	NM_001080534.3(UNC13C):c.4733C>T (p.Pro1578Leu)	UNC13C (P1578L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243435	NM_001080534.3(UNC13C):c.4736G>A (p.Arg1579His)	UNC13C (R1579H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457883	NM_001080534.3(UNC13C):c.4822A>G (p.Thr1608Ala)	UNC13C (T1608A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186517	NM_001080534.3(UNC13C):c.4921T>C (p.Tyr1641His)	UNC13C (Y1639H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186518	NM_001080534.3(UNC13C):c.4936C>T (p.His1646Tyr)	UNC13C (H1646Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186519	NM_001080534.3(UNC13C):c.4966G>A (p.Asp1656Asn)	UNC13C (D1654N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331685	NM_001080534.3(UNC13C):c.5008G>C (p.Glu1670Gln)	UNC13C (E1668Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511606	NM_001080534.3(UNC13C):c.5009A>G (p.Glu1670Gly)	UNC13C (E1668G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186520	NM_001080534.3(UNC13C):c.5113A>G (p.Met1705Val)	UNC13C (M1705V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559565	NM_001080534.3(UNC13C):c.5235A>C (p.Glu1745Asp)	UNC13C (E1745D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250982	NM_001080534.3(UNC13C):c.5254T>C (p.Cys1752Arg)	UNC13C (C1750R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186522	NM_001080534.3(UNC13C):c.5258C>G (p.Pro1753Arg)	UNC13C (P1751R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186523	NM_001080534.3(UNC13C):c.5365G>A (p.Asp1789Asn)	UNC13C (D1787N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228523	NM_001080534.3(UNC13C):c.5437G>A (p.Glu1813Lys)	UNC13C (E1813K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186524	NM_001080534.3(UNC13C):c.5513T>A (p.Val1838Asp)	UNC13C (V1836D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616029	NM_001080534.3(UNC13C):c.5566G>C (p.Glu1856Gln)	UNC13C (E1854Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369168	NM_001080534.3(UNC13C):c.5608G>C (p.Ala1870Pro)	UNC13C (A1870P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333322	NM_001080534.3(UNC13C):c.5634G>T (p.Lys1878Asn)	UNC13C (K1878N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186525	NM_001080534.3(UNC13C):c.5647A>G (p.Met1883Val)	UNC13C (M1881V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283398	NM_001080534.3(UNC13C):c.5661T>G (p.Ile1887Met)	UNC13C (I1885M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254474	NM_001080534.3(UNC13C):c.5663T>C (p.Val1888Ala)	UNC13C (V1886A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403748	NM_001080534.3(UNC13C):c.5865A>T (p.Leu1955Phe)	UNC13C (L1953F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186526	NM_001080534.3(UNC13C):c.5884A>G (p.Met1962Val)	UNC13C (M1960V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269068	NM_001080534.3(UNC13C):c.5902A>G (p.Arg1968Gly)	UNC13C (R1966G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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