1910[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	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 58262	GRCh38/hg38 13q22.3(chr13:77776013-78349185)x3	EDNRB, EDNRB-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 884085	NM_001122659.3(EDNRB):c.*2665T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 884086	NM_001122659.3(EDNRB):c.*2580C>T	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 884087	NM_001122659.3(EDNRB):c.*2463T>C	EDNRB-AS1, EDNRB	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 884088	NM_001122659.3(EDNRB):c.*2452G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312442	NM_001122659.3(EDNRB):c.*2426A>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312443	NM_001122659.3(EDNRB):c.*2355T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312444	NM_001122659.3(EDNRB):c.*2309T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 880798	NM_001122659.3(EDNRB):c.*2292A>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312445	NM_001122659.3(EDNRB):c.*2258G>T	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312446	NM_001122659.3(EDNRB):c.*2219A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312447	NM_001122659.3(EDNRB):c.*2167C>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312448	NM_001122659.3(EDNRB):c.*2165C>T	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312449	NM_001122659.3(EDNRB):c.*2064T>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312450	NM_001122659.3(EDNRB):c.*2055A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 882190	NM_001122659.3(EDNRB):c.*2047C>T	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 882191	NM_001122659.3(EDNRB):c.*2041T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312451	NM_001122659.3(EDNRB):c.*1906G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312452	NM_001122659.3(EDNRB):c.*1860T>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 882192	NM_001122659.3(EDNRB):c.*1844A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 882193	NM_001122659.3(EDNRB):c.*1784A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 226627	NM_001122659.3(EDNRB):c.*1767C>T	EDNRB-AS1, EDNRB	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 312453	NM_001122659.3(EDNRB):c.*1662T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 228659	NM_001122659.3(EDNRB):c.*1632C>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 882439	NM_001122659.3(EDNRB):c.*1600T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312454	NM_001122659.3(EDNRB):c.*1546A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 312455	NM_001122659.3(EDNRB):c.*1514G>T	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312456	NM_001122659.3(EDNRB):c.*1513G>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312457	NM_001122659.3(EDNRB):c.*1496G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 882440	NM_001122659.3(EDNRB):c.*1481G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312458	NM_001122659.3(EDNRB):c.*1474G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312459	NM_001122659.3(EDNRB):c.*1412C>T	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312460	NM_001122659.3(EDNRB):c.*1310C>T	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 884145	NM_001122659.3(EDNRB):c.*1302G>A	EDNRB-AS1, EDNRB	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312461	NM_001122659.3(EDNRB):c.*1260G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 884146	NM_001122659.3(EDNRB):c.*1151T>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312462	NM_001122659.3(EDNRB):c.*1131T>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312463	NM_001122659.3(EDNRB):c.918_921del	EDNRB, EDNRB-AS1	Deletion (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 312464	NM_001122659.3(EDNRB):c.*903G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GLikely benign
Select item 312465	NM_001122659.3(EDNRB):c.*859C>T	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Waardenburg syndrome +1 more	GUncertain significance
Select item 880858	NM_001122659.3(EDNRB):c.*781G>T	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312466	NM_001122659.3(EDNRB):c.*585G>C	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 880859	NM_001122659.3(EDNRB):c.*575A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 880860	NM_001122659.3(EDNRB):c.*414G>A	EDNRB-AS1, EDNRB	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 312467	NM_001122659.3(EDNRB):c.*296A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 312468	NM_001122659.3(EDNRB):c.*179G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 691481	NM_001122659.3(EDNRB):c.*63G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 1215992	NM_001122659.3(EDNRB):c.*3G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1307372	NM_001122659.3(EDNRB):c.1325C>T (p.Ser442Phe)	EDNRB, EDNRB-AS1 (S442F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1484630	NM_001122659.3(EDNRB):c.1304C>A (p.Ser435Tyr)	EDNRB, EDNRB-AS1 (S525Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1703356	NM_001122659.3(EDNRB):c.1301G>A (p.Arg434His)	EDNRB-AS1, EDNRB (R434H +1 more)	Single nucleotide variant (missense variant +1 more)	EDNRB-related condition +1 more	GUncertain significance
Select item 880861	NM_001122659.3(EDNRB):c.1300C>T (p.Arg434Cys)	EDNRB, EDNRB-AS1 (R524C +1 more)	Single nucleotide variant (missense variant +1 more)	Hirschsprung disease, susceptibility to, 2	GUncertain significance
Select item 228662	NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg)	EDNRB-AS1, EDNRB (G429R +1 more)	Single nucleotide variant (missense variant +1 more)	ABCD syndrome +7 more	GUncertain significance
Select item 3004019	NM_001122659.3(EDNRB):c.1284C>T (p.His428=)	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 929874	NM_001122659.3(EDNRB):c.1284C>A (p.His428Gln)	EDNRB, EDNRB-AS1 (H428Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1526124	NM_001122659.3(EDNRB):c.1265_1283del (p.Lys422fs)	EDNRB, EDNRB-AS1 (K422fs +1 more)	Deletion (frameshift variant +1 more)	Waardenburg syndrome type 4A	GUncertain significance
Select item 505624	NM_001122659.3(EDNRB):c.1278T>C (p.Asn426=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2802763	NM_001122659.3(EDNRB):c.1273G>C (p.Ala425Pro)	EDNRB, EDNRB-AS1 (A425P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2151208	NM_001122659.3(EDNRB):c.1264A>G (p.Lys422Glu)	EDNRB, EDNRB-AS1 (K512E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 726166	NM_001122659.3(EDNRB):c.1257G>A (p.Ser419=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 880862	NM_001122659.3(EDNRB):c.1256C>T (p.Ser419Leu)	EDNRB, EDNRB-AS1 (S509L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 255140	NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=)	EDNRB, EDNRB-AS1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 870485	NM_001122659.3(EDNRB):c.1228G>C (p.Glu410Gln)	EDNRB, EDNRB-AS1 (E410Q +1 more)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 1218338	NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter)	EDNRB, EDNRB-AS1 (W404* +1 more)	Single nucleotide variant (nonsense +1 more)	ABCD syndrome +3 more	GUncertain significance
Select item 1307781	NM_001122659.3(EDNRB):c.1195T>C (p.Ser399Pro)	EDNRB, EDNRB-AS1 (S399P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1207952	NM_001122659.3(EDNRB):c.1195-196C>A	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197841	NM_001122659.3(EDNRB):c.1194+26G>A	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732351	NM_001122659.3(EDNRB):c.1194+17A>G	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 312469	NM_001122659.3(EDNRB):c.1194+15C>T	EDNRB, EDNRB-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity

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