SCEL[gene] - 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 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	RBM26-AS1, RCBTB1 +1004 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	LOC130009739, LOC130009740 +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	LOC130009911, LOC130009912 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130010180, LOC130010181 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	LINC00392, LINC00393 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009913, LOC130009914 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	LOC130009813, LOC130009814 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009962, LOC130009963 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ABCC4, ABHD13 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	MIR20A, MIR3169 +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	ACOD1, ALG11 +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 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	LOC110120950, LOC110121360 +141 more	Copy number loss	See cases	GPathogenic
Select item 153559	GRCh38/hg38 13q22.2-31.1(chr13:76530209-78531570)x1	ACOD1, CLN5 +50 more	Copy number loss	See cases	GPathogenic
Select item 147734	GRCh38/hg38 13q22.3-31.3(chr13:77061780-92460406)x1	EDNRB, EDNRB-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 155612	GRCh38/hg38 13q22.3-31.1(chr13:77437522-78501976)x3	EDNRB, EDNRB-AS1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 2490814	NM_144777.3(SCEL):c.32C>T (p.Pro11Leu)	SCEL (P11L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288839	NM_144777.3(SCEL):c.56C>T (p.Thr19Ile)	SCEL (T19I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461469	NM_144777.3(SCEL):c.71C>G (p.Thr24Arg)	SCEL (T24R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336369	NM_144777.3(SCEL):c.73C>T (p.Arg25Trp)	SCEL (R25W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241416	NM_144777.3(SCEL):c.123G>C (p.Gln41His)	SCEL (Q41H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569036	NM_144777.3(SCEL):c.151G>A (p.Glu51Lys)	SCEL (E51K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 982220	NM_144777.3(SCEL):c.175G>A (p.Gly59Ser)	SCEL (G59S)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 2353431	NM_144777.3(SCEL):c.194G>A (p.Arg65Gln)	SCEL (R65Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266834	NM_144777.3(SCEL):c.240T>A (p.Asp80Glu)	SCEL (D80E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509170	NM_144777.3(SCEL):c.262C>T (p.Arg88Trp)	SCEL (R88W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483104	NM_144777.3(SCEL):c.406G>A (p.Gly136Ser)	SCEL (G136S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335675	NM_144777.3(SCEL):c.497C>T (p.Pro166Leu)	SCEL (P166L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471527	NM_144777.3(SCEL):c.542G>A (p.Arg181Lys)	SCEL (R181K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344329	NM_144777.3(SCEL):c.544C>T (p.Arg182Trp)	SCEL (R182W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246395	NM_144777.3(SCEL):c.680A>G (p.Glu227Gly)	SCEL (E227G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231710	NM_144777.3(SCEL):c.881T>C (p.Ile294Thr)	SCEL (I274T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603821	NM_144777.3(SCEL):c.952C>G (p.Gln318Glu)	SCEL, SCEL-AS1 (Q298E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555627	NM_144777.3(SCEL):c.991G>A (p.Glu331Lys)	SCEL, SCEL-AS1 (E311K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462798	NM_144777.3(SCEL):c.1028C>T (p.Thr343Met)	SCEL, SCEL-AS1 (T321M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305912	NM_144777.3(SCEL):c.1079G>A (p.Gly360Glu)	SCEL, SCEL-AS1 (G340E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351318	NM_144777.3(SCEL):c.1121T>A (p.Ile374Asn)	SCEL, SCEL-AS1 (I354N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2347147	NM_144777.3(SCEL):c.1154C>T (p.Thr385Met)	SCEL-AS1, SCEL (T385M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349086	NM_144777.3(SCEL):c.1291G>A (p.Asp431Asn)	SCEL (D389N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216263	NM_144777.3(SCEL):c.1472T>C (p.Leu491Pro)	SCEL (L471P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318973	NM_144777.3(SCEL):c.1501A>C (p.Asn501His)	SCEL (N459H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597099	NM_144777.3(SCEL):c.1566T>G (p.Asn522Lys)	SCEL (N480K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470635	NM_144777.3(SCEL):c.1621A>T (p.Thr541Ser)	SCEL (T521S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322452	NM_144777.3(SCEL):c.1705G>A (p.Ala569Thr)	SCEL (A527T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2289416	NM_144777.3(SCEL):c.1840T>C (p.Ser614Pro)	SCEL (S572P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319837	NM_144777.3(SCEL):c.1988G>T (p.Gly663Val)	SCEL (G621V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366888	NM_144777.3(SCEL):c.2029C>T (p.Pro677Ser)	SCEL (P635S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2664346	GRCh37/hg19 13q22.2-22.3(chr13:76441389-78303365)x3	ACOD1, CLN5 +7 more	Copy number gain	See cases	GUncertain significance
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527784	GRCh37/hg19 13q22.2-31.2(chr13:75574661-87784831)	ACOD1, CLN5 +18 more	Copy number loss	not specified	GPathogenic
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)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	ACOD1, AKAP11 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	CLN5, CNMD +147 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1409001	NC_000013.10:g.(?_77566087)_(78492734_?)dup	CLN5, EDNRB +4 more	Duplication	not provided	GUncertain significance
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	DCT, DGKH +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +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	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1074432	NC_000013.10:g.(?_77566087)_(78492734_?)del	SCEL, SLAIN1 +4 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 815600	GRCh37/hg19 13q21.33-31.1(chr13:71502357-86571730)x1	KLF12, DIS3 +27 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +142 more	Copy number loss	not provided	GPathogenic
Select item 815587	GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1	KLF5, KLHL1 +62 more	Copy number loss	not provided	GPathogenic
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 685401	GRCh37/hg19 13q22.3(chr13:77819195-78232180)x3	MYCBP2, SCEL	Copy number gain	not provided	GUncertain significance
Select item 564079	GRCh37/hg19 13q22.2-31.3(chr13:76942604-90660121)x1	ACOD1, CLN5 +15 more	Copy number loss	not provided	GPathogenic
Select item 547149	GRCh37/hg19 13q22.3(chr13:77812881-78123570)x3	MYCBP2, SCEL	Copy number gain	not provided	GLikely benign
Select item 503586	GRCh37/hg19 13q22.1-31.3(chr13:74459395-93481294)x1	OBI1, POU4F1 +31 more	Copy number loss	See cases	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)	ABCC4, ABHD13 +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	ERCC5, F10 +125 more	Copy number gain	See cases	GPathogenic

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