114798[geneid] - 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	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 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	DNAJC15, EBPL +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	SIAH3, SLAIN1 +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	LOC130009906, LOC130009907 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	LINC00561, LINC00562 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	ABCC4, ABHD13 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	LINC00550, LINC00552 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	ACOD1, ALG11 +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 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	LOC130009900, LOC130009901 +232 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 150046	GRCh38/hg38 13q22.3-31.3(chr13:78304802-91283940)x1	LINC00331, LINC00333 +87 more	Copy number loss	See cases	GPathogenic
Select item 57644	GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1	DCT, GPC5 +121 more	Copy number loss	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	ABCC4, ABHD13 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	ABCC4, ABHD13 +705 more	Copy number gain	See cases	GPathogenic
Select item 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	LOC130010067, LOC130010068 +344 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	LOC132090867, MBNL2 +663 more	Copy number gain	See cases	GPathogenic
Select item 880920	NM_001281503.2(SLITRK1):c.*2207C>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312473	NM_001281503.2(SLITRK1):c.*2203T>C	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312474	NM_001281503.2(SLITRK1):c.*2186T>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882283	NM_001281503.2(SLITRK1):c.*2088G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312475	NM_001281503.2(SLITRK1):c.*2087T>C	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312476	NM_001281503.2(SLITRK1):c.*2043del	SLITRK1	Deletion (3 prime UTR variant)	Tourette syndrome	GLikely benign
Select item 312477	NM_001281503.2(SLITRK1):c.*2042T>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GLikely benign
Select item 882284	NM_001281503.2(SLITRK1):c.*1963C>T	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GLikely benign
Select item 312478	NM_001281503.2(SLITRK1):c.*1944A>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312479	NM_001281503.2(SLITRK1):c.*1882A>T	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882549	NM_001281503.2(SLITRK1):c.*1785A>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882550	NM_001281503.2(SLITRK1):c.*1742T>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882551	NM_001281503.2(SLITRK1):c.*1738C>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882552	NM_001281503.2(SLITRK1):c.*1722A>C	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882553	NM_001281503.2(SLITRK1):c.*1718A>C	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882554	NM_001281503.2(SLITRK1):c.*1666C>T	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312480	NM_001281503.2(SLITRK1):c.*1572C>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312481	NM_001281503.2(SLITRK1):c.*1313C>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 883333	NM_001281503.2(SLITRK1):c.*1292G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 883334	NM_001281503.2(SLITRK1):c.*1235G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312482	NM_001281503.2(SLITRK1):c.*1160G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GLikely benign
Select item 312483	NM_001281503.2(SLITRK1):c.*1149dup	SLITRK1	Duplication (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312484	NM_001281503.2(SLITRK1):c.*1134T>C	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GLikely benign
Select item 880967	NM_001281503.2(SLITRK1):c.*1097A>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 880968	NM_001281503.2(SLITRK1):c.*1092G>T	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312485	NM_001281503.2(SLITRK1):c.*1030G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312486	NM_001281503.2(SLITRK1):c.*1017G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 880969	NM_001281503.2(SLITRK1):c.*930G>T	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 880970	NM_001281503.2(SLITRK1):c.*888T>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312487	NM_001281503.2(SLITRK1):c.*854ATTTT[2]	SLITRK1	Microsatellite (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882329	NM_001281503.2(SLITRK1):c.*865T>C	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882330	NM_001281503.2(SLITRK1):c.*843G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312488	NM_001281503.2(SLITRK1):c.*801A>C	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GLikely benign
Select item 312489	NM_001281503.2(SLITRK1):c.*761G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882331	NM_001281503.2(SLITRK1):c.*749T>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 1579	NM_001281503.2(SLITRK1):c.*689G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GPathogenic
Select item 312490	NM_001281503.2(SLITRK1):c.*649A>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GLikely benign
Select item 312491	NM_001281503.2(SLITRK1):c.*575C>T	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312492	NM_001281503.2(SLITRK1):c.*544C>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882598	NM_001281503.2(SLITRK1):c.*471T>C	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882599	NM_001281503.2(SLITRK1):c.*282G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882600	NM_001281503.2(SLITRK1):c.*260A>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312493	NM_001281503.2(SLITRK1):c.*230T>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312494	NM_001281503.2(SLITRK1):c.*167C>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 883379	NM_001281503.2(SLITRK1):c.*98C>T	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312495	NM_001281503.2(SLITRK1):c.*67G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 883380	NM_001281503.2(SLITRK1):c.*39T>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 883381	NM_001281503.2(SLITRK1):c.*30G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312496	NM_001281503.2(SLITRK1):c.*23G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 2637275	NM_001281503.2(SLITRK1):c.2080C>T (p.Leu694Phe)	SLITRK1 (L694F)	Single nucleotide variant (missense variant)	SLITRK1-related disorder	GUncertain significance
Select item 3166067	NM_001281503.2(SLITRK1):c.2050C>A (p.His684Asn)	SLITRK1 (H684N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 312497	NM_001281503.2(SLITRK1):c.2035A>C (p.Asn679His)	SLITRK1 (N679H)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 883382	NM_001281503.2(SLITRK1):c.2010T>C (p.Ser670=)	SLITRK1	Single nucleotide variant (synonymous variant)	Tourette syndrome	GUncertain significance
Select item 3166066	NM_001281503.2(SLITRK1):c.1973C>T (p.Ala658Val)	SLITRK1 (A658V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786242	NM_001281503.2(SLITRK1):c.1971C>G (p.Ser657=)	SLITRK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 312498	NM_001281503.2(SLITRK1):c.1969T>C (p.Ser657Pro)	SLITRK1 (S657P)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 2547979	NM_001281503.2(SLITRK1):c.1955G>C (p.Arg652Pro)	SLITRK1 (R652P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 881026	NM_001281503.2(SLITRK1):c.1954C>A (p.Arg652=)	SLITRK1	Single nucleotide variant (synonymous variant)	Tourette syndrome	GUncertain significance
Select item 881027	NM_001281503.2(SLITRK1):c.1917C>T (p.Leu639=)	SLITRK1	Single nucleotide variant (synonymous variant)	Tourette syndrome	GUncertain significance
Select item 2241417	NM_001281503.2(SLITRK1):c.1807G>C (p.Gly603Arg)	SLITRK1 (G603R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273374	NM_001281503.2(SLITRK1):c.1799C>T (p.Ala600Val)	SLITRK1 (A600V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 881028	NM_001281503.2(SLITRK1):c.1751G>A (p.Arg584Lys)	SLITRK1 (R584K)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 2474977	NM_001281503.2(SLITRK1):c.1714C>G (p.Leu572Val)	SLITRK1 (L572V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047249	NM_001281503.2(SLITRK1):c.1701G>A (p.Lys567=)	SLITRK1	Single nucleotide variant (synonymous variant)	SLITRK1-related disorder	GLikely benign
Select item 2436112	NM_001281503.2(SLITRK1):c.1661G>A (p.Ser554Asn)	SLITRK1 (S554N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 881029	NM_001281503.2(SLITRK1):c.1651G>A (p.Val551Met)	SLITRK1 (V551M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 312499	NM_001281503.2(SLITRK1):c.1538G>A (p.Gly513Glu)	SLITRK1 (G513E)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 312500	NM_001281503.2(SLITRK1):c.1492A>G (p.Lys498Glu)	SLITRK1 (K498E)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance

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