24724[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 more	Copy number loss	See cases	GPathogenic
Select item 150124	GRCh38/hg38 13q21.31-22.1(chr13:64065900-73693578)x3	ATXN8OS, BORA +70 more	Copy number gain	See cases	GPathogenic
Select item 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	ACOD1, ATXN8OS +232 more	Copy number loss	See cases	GPathogenic
Select item 149578	GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1	ACOD1, BORA +141 more	Copy number loss	See cases	GPathogenic
Select item 2464544	NM_024808.5(BORA):c.119C>T (p.Ala40Val)	BORA (P6S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134768	NM_024808.5(BORA):c.182A>G (p.Asp61Gly)	BORA (D61G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134769	NM_024808.5(BORA):c.193G>A (p.Val65Ile)	BORA (V65I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213684	NM_024808.5(BORA):c.233G>A (p.Arg78His)	BORA (R78H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300089	NM_024808.5(BORA):c.245A>T (p.Tyr82Phe)	BORA (Y82F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134770	NM_024808.5(BORA):c.254A>G (p.His85Arg)	BORA (H85R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272792	NM_024808.5(BORA):c.374G>A (p.Cys125Tyr)	BORA (C55Y +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3261353	NM_024808.5(BORA):c.392C>G (p.Thr131Ser)	BORA (T80S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134771	NM_024808.5(BORA):c.703G>C (p.Val235Leu)	BORA (V165L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204649	NM_024808.5(BORA):c.773C>T (p.Ala258Val)	BORA (A258V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281014	NM_024808.5(BORA):c.842A>T (p.Glu281Val)	BORA (E230V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516559	NM_024808.5(BORA):c.868T>C (p.Ser290Pro)	BORA (S220P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286336	NM_024808.5(BORA):c.875A>G (p.Gln292Arg)	BORA (Q222R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134772	NM_024808.5(BORA):c.902A>G (p.Asp301Gly)	BORA (D301G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494643	NM_024808.5(BORA):c.949A>G (p.Arg317Gly)	BORA (R317G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261354	NM_024808.5(BORA):c.974C>T (p.Ser325Leu)	BORA (S255L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270048	NM_024808.5(BORA):c.988T>C (p.Trp330Arg)	BORA (W260R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475953	NM_024808.5(BORA):c.994C>A (p.Pro332Thr)	BORA (P281T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539100	NM_024808.5(BORA):c.997A>G (p.Met333Val)	BORA (M333V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249108	NM_024808.5(BORA):c.1010T>C (p.Met337Thr)	BORA (M267T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134763	NM_024808.5(BORA):c.1061C>T (p.Thr354Ile)	BORA (T284I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134764	NM_024808.5(BORA):c.1106C>T (p.Pro369Leu)	BORA (P299L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134765	NM_024808.5(BORA):c.1135G>T (p.Asp379Tyr)	BORA (D309Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516558	NM_024808.5(BORA):c.1135G>A (p.Asp379Asn)	BORA (D379N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134766	NM_024808.5(BORA):c.1205C>G (p.Thr402Ser)	BORA (T332S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485583	NM_024808.5(BORA):c.1313C>T (p.Pro438Leu)	BORA (P368L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272790	NM_024808.5(BORA):c.1322T>C (p.Ile441Thr)	BORA (I441T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375655	NM_024808.5(BORA):c.1354G>T (p.Val452Phe)	BORA (V401F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365087	NM_024808.5(BORA):c.1375A>G (p.Met459Val)	BORA (M408V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489778	NM_024808.5(BORA):c.1576T>C (p.Cys526Arg)	BORA, DIS3 (C526R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2324117	NM_024808.5(BORA):c.1579G>C (p.Glu527Gln)	BORA, DIS3 (E457Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2221012	NM_024808.5(BORA):c.1658C>T (p.Pro553Leu)	BORA, DIS3 (P483L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2481471	NM_024808.5(BORA):c.1664A>T (p.Gln555Leu)	BORA, DIS3 (Q504L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3134767	NM_024808.5(BORA):c.1672A>G (p.Ser558Gly)	BORA, DIS3 (S558G +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2454762	NM_024808.5(BORA):c.1675C>A (p.Pro559Thr)	BORA, DIS3 (P559T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3063284	GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1	ACOD1, ATXN8OS +49 more	Copy number loss	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2685472	GRCh37/hg19 13q21.33-22.2(chr13:71119640-76667297)x1	BORA, COMMD6 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527780	GRCh37/hg19 13q21.33-22.1(chr13:69200998-75160653)	ATXN8OS, BORA +9 more	Copy number loss	not specified	GUncertain significance
Select item 1527778	GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)	ACOD1, ATXN8OS +29 more	Copy number loss	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	KLHL1, LPAR6 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1341055	GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1	ACOD1, ATXN8OS +35 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 816480	GRCh37/hg19 13q21.1-22.1(chr13:58432035-73649333)x3	ATXN8OS, BORA +10 more	Copy number gain	See cases	GUncertain significance
Select item 815600	GRCh37/hg19 13q21.33-31.1(chr13:71502357-86571730)x1	KLF5, LINC00402 +27 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
Select item 815587	GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1	DIS3, KLF5 +62 more	Copy number loss	not provided	GPathogenic
Select item 688633	GRCh37/hg19 13q21.33-22.1(chr13:73277686-73565300)x3	BORA, DIS3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 684931	GRCh37/hg19 13q21.33-22.1(chr13:73277686-73561615)x3	BORA, DIS3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 443522	GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3	ABCC4, ACOD1 +60 more	Copy number gain	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	ABCC4, ABHD13 +125 more	Copy number gain	See cases	GPathogenic
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	MIR4500HG, MIR92A1 +102 more	Copy number loss	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic

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