ClinVar for Gene (Select 55770) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107645	NM_148959.4(HUS1B):c.70G>A (p.Ala24Thr)	EXOC2, HUS1B (A24T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107644	NM_148959.4(HUS1B):c.659A>T (p.Asn220Ile)	EXOC2, HUS1B (N220I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107643	NM_148959.4(HUS1B):c.631C>A (p.Pro211Thr)	EXOC2, HUS1B (P211T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107642	NM_148959.4(HUS1B):c.595T>C (p.Ser199Pro)	EXOC2, HUS1B (S199P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107641	NM_148959.4(HUS1B):c.479C>T (p.Pro160Leu)	EXOC2, HUS1B (P160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091037	NM_018303.6(EXOC2):c.700G>A (p.Val234Ile)	EXOC2 (V234I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091036	NM_018303.6(EXOC2):c.434C>T (p.Ser145Leu)	EXOC2 (S145L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091035	NM_018303.6(EXOC2):c.397A>C (p.Asn133His)	EXOC2 (N133H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091034	NM_018303.6(EXOC2):c.2471T>C (p.Val824Ala)	EXOC2 (V824A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091033	NM_018303.6(EXOC2):c.2431G>A (p.Ala811Thr)	EXOC2 (A811T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091032	NM_018303.6(EXOC2):c.2333G>A (p.Gly778Glu)	EXOC2 (G778E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091030	NM_018303.6(EXOC2):c.2168G>A (p.Arg723His)	EXOC2 (R723H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091029	NM_018303.6(EXOC2):c.2042T>C (p.Ile681Thr)	EXOC2 (I681T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091028	NM_018303.6(EXOC2):c.1882T>G (p.Ser628Ala)	EXOC2 (S628A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091027	NM_018303.6(EXOC2):c.1726C>A (p.Gln576Lys)	EXOC2, LOC126859547 (Q576K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062932	GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	BPHL, C6orf201 +25 more	Copy number loss	not specified	GPathogenic
Select item 3062928	GRCh37/hg19 6p25.3-25.2(chr6:156974-3175378)x3	BPHL, DUSP22 +16 more	Copy number gain	not specified	GPathogenic
Select item 3062926	GRCh37/hg19 6p25.3(chr6:192543-1445812)x3	DUSP22, EXOC2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 2685193	GRCh37/hg19 6p25.3(chr6:647204-1716710)x1	EXOC2, FOXC1 +4 more	Copy number loss	not provided	GPathogenic
Select item 2685192	GRCh37/hg19 6p25.3(chr6:156975-2072578)x1	DUSP22, EXOC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 2685191	GRCh37/hg19 6p25.3(chr6:156975-554996)x1	DUSP22, EXOC2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2656170	NM_018303.6(EXOC2):c.24C>G (p.Pro8=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656169	NM_018303.6(EXOC2):c.33C>T (p.Thr11=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656168	NM_018303.6(EXOC2):c.942G>A (p.Gly314=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656167	NM_018303.6(EXOC2):c.1374C>T (p.Leu458=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656166	NM_018303.6(EXOC2):c.1632C>T (p.Ser544=)	EXOC2, LOC126859547	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2656165	NM_018303.6(EXOC2):c.2448T>C (p.Ile816=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2656164	NM_018303.6(EXOC2):c.2727G>A (p.Leu909=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2631923	NM_018303.6(EXOC2):c.2188G>A (p.Ala730Thr)	EXOC2 (A730T)	Single nucleotide variant (missense variant +1 more)	EXOC2-related disorder	GUncertain significance
Select item 2613433	NM_148959.4(HUS1B):c.272C>A (p.Ala91Glu)	EXOC2, HUS1B (A91E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604554	NM_148959.4(HUS1B):c.439C>T (p.Pro147Ser)	EXOC2, HUS1B (P147S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602834	NM_018303.6(EXOC2):c.1532A>T (p.His511Leu)	EXOC2, LOC126859547 (H511L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2571270	GRCh37/hg19 6p25.3-25.2(chr6:393153-3751765)x1	BPHL, EXOC2 +19 more	Copy number loss	not provided	GPathogenic
Select item 2558755	NM_018303.6(EXOC2):c.1756T>A (p.Cys586Ser)	EXOC2, LOC126859547 (C586S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550603	NM_018303.6(EXOC2):c.1327T>C (p.Tyr443His)	EXOC2 (Y443H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548852	NM_018303.6(EXOC2):c.1175A>G (p.Tyr392Cys)	EXOC2 (Y392C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533805	NM_148959.4(HUS1B):c.404G>C (p.Arg135Pro)	EXOC2, HUS1B (R135P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531088	NM_018303.6(EXOC2):c.934C>G (p.Leu312Val)	EXOC2 (L312V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527579	NM_148959.4(HUS1B):c.308A>T (p.Gln103Leu)	EXOC2, HUS1B (Q103L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517448	NM_018303.6(EXOC2):c.2026A>G (p.Lys676Glu)	EXOC2 (K676E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514084	NM_018303.6(EXOC2):c.1302G>T (p.Gln434His)	EXOC2 (Q434H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512353	NM_148959.4(HUS1B):c.103C>G (p.Arg35Gly)	EXOC2, HUS1B (R35G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509729	NM_148959.4(HUS1B):c.678G>C (p.Met226Ile)	EXOC2, HUS1B (M226I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507650	NM_148959.4(HUS1B):c.732A>C (p.Gln244His)	EXOC2, HUS1B (Q244H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506536	GRCh37/hg19 6p25.3(chr6:491126-1624775)	EXOC2, FOXC1 +4 more	Copy number loss	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2479425	NM_018303.6(EXOC2):c.1222G>A (p.Asp408Asn)	EXOC2 (D408N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476456	NM_018303.6(EXOC2):c.1009G>A (p.Glu337Lys)	EXOC2 (E337K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462687	NM_018303.6(EXOC2):c.2173A>G (p.Thr725Ala)	EXOC2 (T725A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460609	NM_018303.6(EXOC2):c.1753C>T (p.Arg585Cys)	EXOC2, LOC126859547 (R585C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459601	NM_148959.4(HUS1B):c.53A>T (p.His18Leu)	EXOC2, HUS1B (H18L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454825	NM_018303.6(EXOC2):c.716C>T (p.Thr239Met)	EXOC2 (T239M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408590	NM_148959.4(HUS1B):c.376C>G (p.Arg126Gly)	EXOC2, HUS1B (R126G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407378	NM_018303.6(EXOC2):c.1645G>A (p.Ala549Thr)	EXOC2, LOC126859547 (A549T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403172	NM_148959.4(HUS1B):c.769A>G (p.Asn257Asp)	EXOC2, HUS1B (N257D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385791	NM_018303.6(EXOC2):c.2236C>A (p.Gln746Lys)	EXOC2 (Q746K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384293	NM_018303.6(EXOC2):c.1876G>A (p.Val626Met)	EXOC2 (V626M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382791	NM_018303.6(EXOC2):c.1319C>T (p.Thr440Met)	EXOC2 (T440M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380386	NM_148959.4(HUS1B):c.35G>C (p.Cys12Ser)	EXOC2, HUS1B (C12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377399	NM_148959.4(HUS1B):c.98G>A (p.Arg33His)	EXOC2, HUS1B (R33H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373678	NM_148959.4(HUS1B):c.250G>T (p.Ala84Ser)	EXOC2, HUS1B (A84S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2372237	NM_018303.6(EXOC2):c.2214C>G (p.Phe738Leu)	EXOC2 (F738L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367784	NM_018303.6(EXOC2):c.1624G>A (p.Glu542Lys)	EXOC2, LOC126859547 (E542K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366081	NM_018303.6(EXOC2):c.1237A>G (p.Thr413Ala)	EXOC2 (T413A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354158	NM_018303.6(EXOC2):c.1603G>A (p.Gly535Arg)	EXOC2, LOC126859547 (G535R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349789	NM_148959.4(HUS1B):c.111C>A (p.Asp37Glu)	EXOC2, HUS1B (D37E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329950	NM_018303.6(EXOC2):c.2176T>G (p.Phe726Val)	EXOC2 (F726V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324024	NM_148959.4(HUS1B):c.535G>A (p.Val179Met)	EXOC2, HUS1B (V179M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319727	NM_148959.4(HUS1B):c.503T>C (p.Ile168Thr)	EXOC2, HUS1B (I168T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318101	NM_018303.6(EXOC2):c.2167C>T (p.Arg723Cys)	EXOC2 (R723C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305193	NM_148959.4(HUS1B):c.427C>T (p.Arg143Trp)	EXOC2, HUS1B (R143W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301238	NM_018303.6(EXOC2):c.1750G>A (p.Val584Ile)	EXOC2, LOC126859547 (V584I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298252	NM_018303.6(EXOC2):c.1832A>G (p.Asn611Ser)	EXOC2 (N611S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296154	NM_148959.4(HUS1B):c.29A>G (p.Lys10Arg)	EXOC2, HUS1B (K10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294353	NM_018303.6(EXOC2):c.1743T>A (p.Asp581Glu)	EXOC2, LOC126859547 (D581E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292371	NM_148959.4(HUS1B):c.464C>G (p.Ala155Gly)	EXOC2, HUS1B (A155G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284978	NM_148959.4(HUS1B):c.128C>G (p.Pro43Arg)	EXOC2, HUS1B (P43R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272661	NM_018303.6(EXOC2):c.1989G>A (p.Met663Ile)	EXOC2 (M663I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272417	NM_018303.6(EXOC2):c.1274C>T (p.Ala425Val)	EXOC2 (A425V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263670	NM_018303.6(EXOC2):c.2338T>A (p.Tyr780Asn)	EXOC2 (Y780N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248129	NM_148959.4(HUS1B):c.422T>A (p.Val141Glu)	EXOC2, HUS1B (V141E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243155	NM_018303.6(EXOC2):c.587A>G (p.Lys196Arg)	EXOC2 (K196R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236583	NM_018303.6(EXOC2):c.1990C>A (p.Gln664Lys)	EXOC2 (Q664K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212071	NM_148959.4(HUS1B):c.148C>T (p.His50Tyr)	EXOC2, HUS1B (H50Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209059	NM_148959.4(HUS1B):c.53A>C (p.His18Pro)	EXOC2, HUS1B (H18P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208239	NM_018303.6(EXOC2):c.2771C>T (p.Thr924Ile)	EXOC2 (T924I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208145	NM_148959.4(HUS1B):c.676A>G (p.Met226Val)	EXOC2, HUS1B (M226V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1810399	GRCh37/hg19 6p25.3(chr6:160000-820000)x1	DUSP22, EXOC2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 1808724	GRCh37/hg19 6p25.3-25.2(chr6:156975-3718881)x1	BPHL, DUSP22 +19 more	Copy number loss	not provided	GPathogenic
Select item 1808084	GRCh37/hg19 6p25.3(chr6:381086-1144691)x1	EXOC2, HUS1B +1 more	Copy number loss	not provided	GUncertain significance
Select item 1696509	NM_148959.4(HUS1B):c.112_128del (p.Ser38fs)	EXOC2, HUS1B (S38fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GUncertain significance
Select item 1676308	GRCh37/hg19 6p25.3-25.2(chr6:375263-3655142)x1	BPHL, EXOC2 +18 more	Copy number loss	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1676002	NM_018303.6(EXOC2):c.459C>T (p.Phe153=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1676001	NM_018303.6(EXOC2):c.639C>T (p.Phe213=)	EXOC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1527212	GRCh37/hg19 6p25.3-25.2(chr6:383951-3898619)	BPHL, EXOC2 +20 more	Copy number loss	not specified	GPathogenic
Select item 1180550	GRCh37/hg19 6p25.3-25.2(chr6:149619-3951208)x3	BPHL, DUSP22 +21 more	Copy number gain	not provided	GPathogenic
Select item 1178804	NM_148959.4(HUS1B):c.390C>A (p.His130Gln)	EXOC2, HUS1B (H130Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1074298	NM_018303.6(EXOC2):c.1739T>C (p.Leu580Ser)	EXOC2, LOC126859547 (L580S)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GPathogenic
Select item 1074297	NM_018303.6(EXOC2):c.389G>A (p.Arg130His)	EXOC2 (R130H)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GPathogenic
Select item 1074296	NM_018303.6(EXOC2):c.1309C>T (p.Arg437Ter)	EXOC2 (R437*)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	GPathogenic

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