ClinVar for Gene (Select 11336) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276770	NM_007277.5(EXOC3):c.997G>A (p.Ala333Thr)	EXOC3 (A333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276769	NM_007277.5(EXOC3):c.1163C>A (p.Thr388Asn)	EXOC3 (T388N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276768	NM_007277.5(EXOC3):c.536G>A (p.Ser179Asn)	EXOC3 (S179N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276767	NM_007277.5(EXOC3):c.500C>T (p.Thr167Met)	EXOC3 (T167M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276766	NM_007277.5(EXOC3):c.987A>C (p.Glu329Asp)	EXOC3 (E329D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276765	NM_007277.5(EXOC3):c.1586G>A (p.Gly529Glu)	EXOC3 (G529E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276764	NM_007277.5(EXOC3):c.16C>T (p.Arg6Trp)	EXOC3 (R6W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276763	NM_007277.5(EXOC3):c.1573C>A (p.Pro525Thr)	EXOC3 (P525T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148940	GRCh37/hg19 5p15.33(chr5:113577-2191119)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3148886	GRCh37/hg19 5p15.33(chr5:403181-986695)x3	AHRR, BRD9 +8 more	Copy number gain	not provided	GUncertain significance
Select item 3091058	NM_007277.5(EXOC3):c.962C>T (p.Thr321Met)	EXOC3 (T321M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091057	NM_007277.5(EXOC3):c.952G>T (p.Ala318Ser)	EXOC3 (A318S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091056	NM_007277.5(EXOC3):c.914A>G (p.Tyr305Cys)	EXOC3 (Y305C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091055	NM_007277.5(EXOC3):c.872T>C (p.Ile291Thr)	EXOC3 (I291T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091054	NM_007277.5(EXOC3):c.813C>A (p.Asp271Glu)	EXOC3 (D271E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091053	NM_007277.5(EXOC3):c.736G>A (p.Glu246Lys)	EXOC3 (E246K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091052	NM_007277.5(EXOC3):c.674G>A (p.Arg225His)	EXOC3 (R225H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091050	NM_007277.5(EXOC3):c.499A>G (p.Thr167Ala)	EXOC3 (T167A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091049	NM_007277.5(EXOC3):c.454C>T (p.Arg152Trp)	EXOC3 (R152W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091048	NM_007277.5(EXOC3):c.428G>A (p.Arg143Gln)	EXOC3 (R143Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091047	NM_007277.5(EXOC3):c.2218G>A (p.Val740Met)	EXOC3 (V740M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091046	NM_007277.5(EXOC3):c.2118C>G (p.Asp706Glu)	EXOC3 (D706E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091045	NM_007277.5(EXOC3):c.1953C>A (p.Asp651Glu)	EXOC3 (D651E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091044	NM_007277.5(EXOC3):c.1904A>T (p.Glu635Val)	EXOC3 (E635V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091043	NM_007277.5(EXOC3):c.1896G>C (p.Arg632Ser)	EXOC3 (R632S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091042	NM_007277.5(EXOC3):c.1726G>A (p.Val576Met)	EXOC3 (V576M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091041	NM_007277.5(EXOC3):c.1328G>T (p.Ser443Ile)	EXOC3, LOC126807282 (S443I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091040	NM_007277.5(EXOC3):c.1198G>C (p.Glu400Gln)	EXOC3 (E400Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091039	NM_007277.5(EXOC3):c.110C>T (p.Ala37Val)	EXOC3 (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091038	NM_007277.5(EXOC3):c.1070A>T (p.Glu357Val)	EXOC3 (E357V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062863	GRCh37/hg19 5p15.33(chr5:113576-676873)x3	AHRR, CCDC127 +9 more	Copy number gain	not specified	GUncertain significance
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062835	GRCh37/hg19 5p15.33(chr5:113576-3612214)x1	AHRR, BRD9 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2609595	NM_007277.5(EXOC3):c.1186C>T (p.Arg396Trp)	EXOC3 (R396W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608566	NM_007277.5(EXOC3):c.1388G>A (p.Ser463Asn)	EXOC3, LOC126807282 (S463N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602677	NM_007277.5(EXOC3):c.214G>A (p.Val72Ile)	EXOC3 (V72I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598624	NM_007277.5(EXOC3):c.1862A>G (p.Glu621Gly)	EXOC3 (E621G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595127	NM_007277.5(EXOC3):c.1777A>C (p.Arg593=)	EXOC3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2593032	NM_007277.5(EXOC3):c.337G>A (p.Val113Met)	EXOC3 (V113M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 2553671	NM_007277.5(EXOC3):c.1798C>T (p.Arg600Trp)	EXOC3 (R600W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546030	NM_007277.5(EXOC3):c.1180T>G (p.Trp394Gly)	EXOC3 (W394G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517158	NM_007277.5(EXOC3):c.1001A>G (p.Asn334Ser)	EXOC3 (N334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507653	NM_007277.5(EXOC3):c.1049C>T (p.Thr350Ile)	EXOC3 (T350I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489796	NM_007277.5(EXOC3):c.1406C>T (p.Ala469Val)	EXOC3 (A469V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471909	NM_007277.5(EXOC3):c.290A>G (p.Lys97Arg)	EXOC3 (K97R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409434	NM_007277.5(EXOC3):c.769A>G (p.Thr257Ala)	EXOC3 (T257A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380358	NM_007277.5(EXOC3):c.25G>A (p.Val9Ile)	EXOC3 (V9I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379465	NM_007277.5(EXOC3):c.1619G>A (p.Ser540Asn)	EXOC3 (S540N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371542	NM_007277.5(EXOC3):c.398T>C (p.Ile133Thr)	EXOC3 (I133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365555	NM_007277.5(EXOC3):c.1066G>C (p.Val356Leu)	EXOC3 (V356L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364561	NM_007277.5(EXOC3):c.1022C>T (p.Thr341Met)	EXOC3 (T341M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350792	NM_007277.5(EXOC3):c.1597G>A (p.Ala533Thr)	EXOC3 (A533T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347054	NM_007277.5(EXOC3):c.64C>T (p.Arg22Cys)	EXOC3 (R22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325377	NM_007277.5(EXOC3):c.706G>T (p.Val236Phe)	EXOC3 (V236F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320995	NM_007277.5(EXOC3):c.1551A>C (p.Glu517Asp)	EXOC3 (E517D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299745	NM_007277.5(EXOC3):c.1703C>T (p.Ala568Val)	EXOC3 (A568V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262131	NM_007277.5(EXOC3):c.1414T>C (p.Tyr472His)	EXOC3 (Y472H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249536	NM_007277.5(EXOC3):c.2095G>T (p.Val699Leu)	EXOC3 (V699L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240968	NM_007277.5(EXOC3):c.1613G>C (p.Gly538Ala)	EXOC3 (G538A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238751	NM_007277.5(EXOC3):c.920T>G (p.Ile307Ser)	EXOC3 (I307S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230289	NM_007277.5(EXOC3):c.992T>C (p.Leu331Pro)	EXOC3 (L331P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210030	NM_007277.5(EXOC3):c.1621G>A (p.Gly541Ser)	EXOC3 (G541S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1808928	GRCh37/hg19 5p15.33(chr5:150265-668842)x3	AHRR, CCDC127 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1808602	GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 1807906	GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	ADAMTS16, ADCY2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1711872	GRCh37/hg19 5p15.33(chr5:113576-2027194)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GPathogenic
Select item 1707436	GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	See cases	GPathogenic
Select item 1706484	GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1705881	GRCh37/hg19 5p15.33(chr5:26141-2537457)x3	EXOC3, AHRR +24 more	Copy number gain	Global developmental delay	GUncertain significance
Select item 1703686	GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027)	ADAMTS16, ADCY2 +48 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 1703685	GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	ADAMTS16, ADCY2 +67 more	Copy number gain	5p partial monosomy syndrome	GPathogenic
Select item 1459245	NC_000005.9:g.(?_218471)_(1895829_?)del	LPCAT1, MRPL36 +21 more	Deletion	Parkinsonism-dystonia, infantile	GPathogenic
Select item 1340680	GRCh37/hg19 5p15.33(chr5:113577-2276310)x1	AHRR, BRD9 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1340533	GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1	ADAMTS16, ADCY2 +60 more	Copy number loss	not provided	GPathogenic
Select item 1180547	GRCh37/hg19 5p15.33(chr5:13200-4012072)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1012369	GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1	MARCHF11, MARCHF6 +67 more	Copy number loss	See cases	GPathogenic
Select item 979673	GRCh37/hg19 5p15.33(chr5:113576-1286005)x1	AHRR, BRD9 +18 more	Copy number loss	not provided	GUncertain significance
Select item 979670	GRCh37/hg19 5p15.33(chr5:113576-4305172)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 915985	GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)	LPCAT1, MYO10 +63 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 831918	NC_000005.10:g.(?_218349)_(1297373_?)del	AHRR, BRD9 +15 more	Deletion	Interstitial lung disease 2 +1 more	GPathogenic
Select item 831255	NC_000005.10:g.(?_218346)_(1295046_?)del	AHRR, BRD9 +15 more	Deletion	Interstitial lung disease 2 +1 more	GPathogenic
Select item 830662	NC_000005.10:g.(?_218349)_(1297373_?)dup	AHRR, BRD9 +15 more	Duplication	Interstitial lung disease 2 +1 more	GUncertain significance
Select item 814656	GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1	ADAMTS16, AHRR +28 more	Copy number loss	not provided	GPathogenic
Select item 814655	GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1	ADAMTS16, AHRR +29 more	Copy number loss	not provided	GPathogenic
Select item 814654	GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1	SLC9A3, SRD5A1 +48 more	Copy number loss	not provided	GPathogenic

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