ClinVar for Gene (Select 11336) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	GUncertain significance
Select item 2608566	NM_007277.5(EXOC3):c.1388G>A (p.Ser463Asn)	EXOC3, LOC126807282 (S463N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602677	NM_007277.5(EXOC3):c.214G>A (p.Val72Ile)	EXOC3 (V72I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598624	NM_007277.5(EXOC3):c.1862A>G (p.Glu621Gly)	EXOC3 (E621G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595127	NM_007277.5(EXOC3):c.1777A>C (p.Arg593=)	EXOC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2593032	NM_007277.5(EXOC3):c.337G>A (p.Val113Met)	EXOC3 (V113M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2546030	NM_007277.5(EXOC3):c.1180T>G (p.Trp394Gly)	EXOC3 (W394G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517158	NM_007277.5(EXOC3):c.1001A>G (p.Asn334Ser)	EXOC3 (N334S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507653	NM_007277.5(EXOC3):c.1049C>T (p.Thr350Ile)	EXOC3 (T350I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489796	NM_007277.5(EXOC3):c.1406C>T (p.Ala469Val)	EXOC3 (A469V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471909	NM_007277.5(EXOC3):c.290A>G (p.Lys97Arg)	EXOC3 (K97R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409434	NM_007277.5(EXOC3):c.769A>G (p.Thr257Ala)	EXOC3 (T257A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380358	NM_007277.5(EXOC3):c.25G>A (p.Val9Ile)	EXOC3 (V9I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379465	NM_007277.5(EXOC3):c.1619G>A (p.Ser540Asn)	EXOC3 (S540N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371542	NM_007277.5(EXOC3):c.398T>C (p.Ile133Thr)	EXOC3 (I133T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365555	NM_007277.5(EXOC3):c.1066G>C (p.Val356Leu)	EXOC3 (V356L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364561	NM_007277.5(EXOC3):c.1022C>T (p.Thr341Met)	EXOC3 (T341M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350792	NM_007277.5(EXOC3):c.1597G>A (p.Ala533Thr)	EXOC3 (A533T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347054	NM_007277.5(EXOC3):c.64C>T (p.Arg22Cys)	EXOC3 (R22C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325377	NM_007277.5(EXOC3):c.706G>T (p.Val236Phe)	EXOC3 (V236F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320995	NM_007277.5(EXOC3):c.1551A>C (p.Glu517Asp)	EXOC3 (E517D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299745	NM_007277.5(EXOC3):c.1703C>T (p.Ala568Val)	EXOC3 (A568V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262131	NM_007277.5(EXOC3):c.1414T>C (p.Tyr472His)	EXOC3 (Y472H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249536	NM_007277.5(EXOC3):c.2095G>T (p.Val699Leu)	EXOC3 (V699L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240968	NM_007277.5(EXOC3):c.1613G>C (p.Gly538Ala)	EXOC3 (G538A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238751	NM_007277.5(EXOC3):c.920T>G (p.Ile307Ser)	EXOC3 (I307S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230289	NM_007277.5(EXOC3):c.992T>C (p.Leu331Pro)	EXOC3 (L331P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210030	NM_007277.5(EXOC3):c.1621G>A (p.Gly541Ser)	EXOC3 (G541S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	NDUFS6, NKD2 +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	CLPTM1L, EXOC3 +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	NKD2, PDCD6 +15 more	Deletion	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 831255	NC_000005.10:g.(?_218346)_(1295046_?)del	AHRR, BRD9 +15 more	Deletion	Dyskeratosis congenita, autosomal dominant 2 +1 more	GPathogenic
Select item 830662	NC_000005.10:g.(?_218349)_(1297373_?)dup	ZDHHC11B, ZDHHC11 +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
Select item 814653	GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1	ADAMTS16, ADCY2 +55 more	Copy number loss	not provided	GPathogenic
Select item 814652	GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	not provided	GPathogenic
Select item 814651	GRCh37/hg19 5p15.33(chr5:113576-4325585)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 814650	GRCh37/hg19 5p15.33(chr5:113576-2485820)x1	AHRR, BRD9 +24 more	Copy number loss	not provided	GUncertain significance
Select item 778863	NM_007277.5(EXOC3):c.126C>T (p.Ser42=)	EXOC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771366	NM_007277.5(EXOC3):c.908C>G (p.Pro303Arg)	EXOC3 (P303R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 721259	NM_007277.5(EXOC3):c.234G>A (p.Ser78=)	EXOC3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 685404	GRCh37/hg19 5p15.33(chr5:306980-599485)x3	AHRR, EXOC3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625702	GRCh37/hg19 5p15.33-15.31(chr5:140474-9792158)	ADAMTS16, ADCY2 +40 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 625701	GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925)	ADAMTS16, ADCY2 +67 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 624532	GRCh37/hg19 5p15.33(chr5:52186-4163906)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic
Select item 563026	GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 563025	GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1	ADAMTS16, ADCY2 +56 more	Copy number loss	not provided	GPathogenic
Select item 563024	GRCh37/hg19 5p15.33-15.31(chr5:113576-7946262)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not provided	GPathogenic
Select item 563023	GRCh37/hg19 5p15.33-15.32(chr5:113576-6125331)x1	ADAMTS16, AHRR +29 more	Copy number loss	not provided	GPathogenic
Select item 563022	GRCh37/hg19 5p15.33-15.32(chr5:113576-5884399)x1	ADAMTS16, AHRR +29 more	Copy number loss	not provided	GPathogenic
Select item 563021	GRCh37/hg19 5p15.33(chr5:113576-1816055)x1	AHRR, BRD9 +23 more	Copy number loss	not provided	GPathogenic
Select item 563020	GRCh37/hg19 5p15.33(chr5:113576-1708530)x1	AHRR, BRD9 +21 more	Copy number loss	not provided	GPathogenic
Select item 446326	GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 443692	GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	See cases	GPathogenic
Select item 443691	GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3	ADAMTS16, ADCY2 +62 more	Copy number gain	See cases	GPathogenic
Select item 443598	GRCh37/hg19 5p15.33-15.32(chr5:113576-5380741)x1	ADAMTS16, AHRR +28 more	Copy number loss	See cases	GPathogenic
Select item 443451	GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 443058	GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	See cases	GPathogenic
Select item 442940	GRCh37/hg19 5p15.33-15.2(chr5:113576-10163809)x1	ADAMTS16, ADCY2 +40 more	Copy number loss	See cases	GPathogenic
Select item 442928	GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441820	GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	See cases	GPathogenic
Select item 441756	GRCh37/hg19 5p15.33(chr5:113576-4175855)x1	AHRR, BRD9 +27 more	Copy number loss	See cases	GPathogenic
Select item 441752	GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1	ADAMTS16, ADCY2 +55 more	Copy number loss	See cases	GPathogenic

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