GCC2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 150754	GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3	CCDC138, CD8B2 +99 more	Copy number gain	See cases	GUncertain significance
Select item 59313	GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3	CCDC138, EDAR +93 more	Copy number gain	See cases	GUncertain significance
Select item 152716	GRCh38/hg38 2q12.3(chr2:107901810-108472871)x3	GCC2, LINC01593 +9 more	Copy number gain	See cases	GUncertain significance
Select item 150238	GRCh38/hg38 2q12.3(chr2:107924122-108472871)x3	GCC2, LINC01593 +8 more	Copy number gain	See cases	GUncertain significance
Select item 148503	GRCh38/hg38 2q12.3(chr2:107924122-108509089)x1	GCC2, GCC2-AS1 +9 more	Copy number loss	See cases	GUncertain significance
Select item 144754	GRCh38/hg38 2q12.3-13(chr2:107962353-109700179)x1	CCDC138, EDAR +67 more	Copy number loss	See cases	GUncertain significance
Select item 464169	Single allele	CCDC138, EDAR +31 more	Duplication	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 3519348	NM_181453.4(GCC2):c.47G>A (p.Gly16Glu)	GCC2 (G16E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3040511	NM_181453.4(GCC2):c.88C>A (p.Leu30Ile)	GCC2 (L30I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409962	NM_181453.4(GCC2):c.128A>G (p.Lys43Arg)	GCC2 (K43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780830	NM_181453.4(GCC2):c.185C>G (p.Pro62Arg)	GCC2 (P62R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2612025	NM_181453.4(GCC2):c.227A>G (p.Glu76Gly)	GCC2 (E76G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2375081	NM_181453.4(GCC2):c.236A>G (p.Asp79Gly)	GCC2 (D79G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247183	NM_181453.4(GCC2):c.242T>C (p.Leu81Pro)	GCC2 (L81P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536630	NM_181453.4(GCC2):c.306G>T (p.Met102Ile)	GCC2 (M102I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477763	NM_181453.4(GCC2):c.343G>A (p.Asp115Asn)	GCC2 (D115N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042982	NM_181453.4(GCC2):c.371A>G (p.His124Arg)	GCC2 (H124R +1 more)	Single nucleotide variant (missense variant)	GCC2-related disorder	GLikely benign
Select item 2276429	NM_181453.4(GCC2):c.385A>G (p.Lys129Glu)	GCC2 (K28E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099005	NM_181453.4(GCC2):c.392T>C (p.Ile131Thr)	GCC2 (I30T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3519331	NM_181453.4(GCC2):c.427T>C (p.Ser143Pro)	GCC2 (S143P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382735	NM_181453.4(GCC2):c.740T>C (p.Ile247Thr)	GCC2 (I146T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3099012	NM_181453.4(GCC2):c.774G>T (p.Gln258His)	GCC2 (Q157H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775748	NM_181453.4(GCC2):c.780A>G (p.Glu260=)	GCC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3280992	NM_181453.4(GCC2):c.926C>G (p.Ala309Gly)	GCC2 (A208G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040087	NM_181453.4(GCC2):c.952A>G (p.Ile318Val)	GCC2 (I217V +1 more)	Single nucleotide variant (missense variant)	GCC2-related disorder	GLikely benign
Select item 3519327	NM_181453.4(GCC2):c.974T>G (p.Phe325Cys)	GCC2 (F224C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618966	NM_181453.4(GCC2):c.976G>T (p.Val326Leu)	GCC2 (V225L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401184	NM_181453.4(GCC2):c.995A>G (p.Glu332Gly)	GCC2 (E332G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774289	NM_181453.4(GCC2):c.1029A>G (p.Glu343=)	GCC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3519338	NM_181453.4(GCC2):c.1033G>A (p.Glu345Lys)	GCC2 (E345K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394560	NM_181453.4(GCC2):c.1067C>T (p.Thr356Ile)	GCC2 (T255I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 375646	NM_181453.4(GCC2):c.1070A>G (p.Tyr357Cys)	GCC2 (Y357C)	Single nucleotide variant (missense variant +1 more)	Progressive sensorineural hearing impairment	GUncertain significance
Select item 2459624	NM_181453.4(GCC2):c.1241A>G (p.Gln414Arg)	GCC2 (Q414R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3519325	NM_181453.4(GCC2):c.1265A>G (p.His422Arg)	GCC2 (H321R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347384	NM_181453.4(GCC2):c.1370T>C (p.Phe457Ser)	GCC2 (F356S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280987	NM_181453.4(GCC2):c.1377A>G (p.Ile459Met)	GCC2 (I459M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098989	NM_181453.4(GCC2):c.1379A>G (p.Gln460Arg)	GCC2 (Q359R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3519345	NM_181453.4(GCC2):c.1382G>T (p.Gly461Val)	GCC2 (G461V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372556	NM_181453.4(GCC2):c.1399G>C (p.Glu467Gln)	GCC2 (E467Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455758	NM_181453.4(GCC2):c.1429A>G (p.Ile477Val)	GCC2 (I376V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615362	NM_181453.4(GCC2):c.1516G>A (p.Glu506Lys)	GCC2 (E405K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055158	NM_181453.4(GCC2):c.1522A>G (p.Met508Val)	GCC2 (M407V +1 more)	Single nucleotide variant (missense variant)	GCC2-related disorder	GLikely benign
Select item 2286020	NM_181453.4(GCC2):c.1537G>C (p.Ala513Pro)	GCC2 (A412P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3519334	NM_181453.4(GCC2):c.1544A>G (p.Asp515Gly)	GCC2 (D414G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280996	NM_181453.4(GCC2):c.1562A>G (p.Gln521Arg)	GCC2 (Q420R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098990	NM_181453.4(GCC2):c.1591G>A (p.Asp531Asn)	GCC2 (D531N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044083	NM_181453.4(GCC2):c.1602C>T (p.Leu534=)	GCC2	Single nucleotide variant (synonymous variant)	GCC2-related disorder	GLikely benign
Select item 2360400	NM_181453.4(GCC2):c.1616G>A (p.Arg539His)	GCC2 (R438H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2604451	NM_181453.4(GCC2):c.1681A>G (p.Ile561Val)	GCC2 (I460V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3519342	NM_181453.4(GCC2):c.1684A>C (p.Lys562Gln)	GCC2 (K461Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411417	NM_181453.4(GCC2):c.1705G>A (p.Gly569Arg)	GCC2 (G468R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098991	NM_181453.4(GCC2):c.1708G>A (p.Val570Ile)	GCC2 (V469I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790254	NM_181453.4(GCC2):c.1778C>G (p.Thr593Ser)	GCC2 (T593S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3519332	NM_181453.4(GCC2):c.1780G>A (p.Glu594Lys)	GCC2 (E594K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098993	NM_181453.4(GCC2):c.1821T>G (p.His607Gln)	GCC2 (H506Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397871	NM_181453.4(GCC2):c.1829T>C (p.Met610Thr)	GCC2 (M509T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098994	NM_181453.4(GCC2):c.1856G>A (p.Arg619Lys)	GCC2 (R619K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046121	NM_181453.4(GCC2):c.1860A>G (p.Glu620=)	GCC2	Single nucleotide variant (synonymous variant)	GCC2-related disorder	GLikely benign
Select item 3098995	NM_181453.4(GCC2):c.1894G>C (p.Glu632Gln)	GCC2 (E632Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033899	NM_181453.4(GCC2):c.1911C>T (p.Tyr637=)	GCC2	Single nucleotide variant (synonymous variant)	GCC2-related disorder	GBenign
Select item 3098996	NM_181453.4(GCC2):c.1958A>G (p.Glu653Gly)	GCC2 (E653G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407860	NM_181453.4(GCC2):c.2011G>A (p.Val671Ile)	GCC2 (V570I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098997	NM_181453.4(GCC2):c.2014C>A (p.Gln672Lys)	GCC2 (Q672K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230563	NM_181453.4(GCC2):c.2024T>G (p.Val675Gly)	GCC2 (V675G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098998	NM_181453.4(GCC2):c.2026C>A (p.Leu676Ile)	GCC2 (L575I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280988	NM_181453.4(GCC2):c.2065T>G (p.Ser689Ala)	GCC2 (S588A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533542	NM_181453.4(GCC2):c.2084A>G (p.Asn695Ser)	GCC2 (N594S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523595	NM_181453.4(GCC2):c.2128G>T (p.Val710Phe)	GCC2 (V710F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3519337	NM_181453.4(GCC2):c.2149G>T (p.Asp717Tyr)	GCC2 (D616Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3519329	NM_181453.4(GCC2):c.2152G>A (p.Val718Ile)	GCC2 (V718I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609020	NM_181453.4(GCC2):c.2192T>C (p.Leu731Pro)	GCC2 (L731P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544759	NM_181453.4(GCC2):c.2297T>C (p.Met766Thr)	GCC2 (M665T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271955	NM_181453.4(GCC2):c.2298G>A (p.Met766Ile)	GCC2 (M766I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533633	NM_181453.4(GCC2):c.2312C>T (p.Ser771Leu)	GCC2 (S670L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098999	NM_181453.4(GCC2):c.2326G>A (p.Glu776Lys)	GCC2 (E675K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099000	NM_181453.4(GCC2):c.2330A>T (p.Lys777Ile)	GCC2 (K676I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3519341	NM_181453.4(GCC2):c.2336T>A (p.Val779Asp)	GCC2 (V779D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037115	NM_181453.4(GCC2):c.2352G>A (p.Gln784=)	GCC2	Single nucleotide variant (synonymous variant)	GCC2-related disorder	GLikely benign
Select item 2363771	NM_181453.4(GCC2):c.2410C>T (p.Arg804Cys)	GCC2 (R804C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3099001	NM_181453.4(GCC2):c.2414A>G (p.Asp805Gly)	GCC2 (D805G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405735	NM_181453.4(GCC2):c.2446A>G (p.Lys816Glu)	GCC2 (K715E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258465	NM_181453.4(GCC2):c.2450G>A (p.Cys817Tyr)	GCC2 (C716Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333510	NM_181453.4(GCC2):c.2480A>T (p.Glu827Val)	GCC2 (E827V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374292	NM_181453.4(GCC2):c.2546A>G (p.Glu849Gly)	GCC2 (E748G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3519326	NM_181453.4(GCC2):c.2552A>C (p.Gln851Pro)	GCC2 (Q851P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038603	NM_181453.4(GCC2):c.2558A>G (p.Glu853Gly)	GCC2 (E752G +1 more)	Single nucleotide variant (missense variant)	GCC2-related disorder	GBenign
Select item 3519344	NM_181453.4(GCC2):c.2559A>C (p.Glu853Asp)	GCC2 (E853D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3519340	NM_181453.4(GCC2):c.2590A>G (p.Met864Val)	GCC2 (M763V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280990	NM_181453.4(GCC2):c.2624A>G (p.Asn875Ser)	GCC2 (N774S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411846	NM_181453.4(GCC2):c.2750A>C (p.Glu917Ala)	GCC2 (E917A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301842	NM_181453.4(GCC2):c.2794T>A (p.Leu932Ile)	GCC2 (L932I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287838	NM_181453.4(GCC2):c.2794T>G (p.Leu932Val)	GCC2 (L932V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3519339	NM_181453.4(GCC2):c.2824C>G (p.Pro942Ala)	GCC2 (P942A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547936	NM_181453.4(GCC2):c.2861A>G (p.Glu954Gly)	GCC2 (E853G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556603	NM_181453.4(GCC2):c.2948C>G (p.Ser983Cys)	GCC2 (S882C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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