"GeneDx"[submitter] AND "CACNA1B"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 59141	GRCh38/hg38 9q34.3(chr9:137215877-138138735)x1	LOC130003144, LOC130003145 +101 more	Copy number loss	See cases	GPathogenic
Select item 59153	GRCh38/hg38 9q34.3(chr9:137514943-138121473)x1	ARRDC1, ARRDC1-AS1 +46 more	Copy number loss	See cases	GPathogenic
Select item 59155	GRCh38/hg38 9q34.3(chr9:137598355-138091769)x1	LOC130003141, LOC130003142 +33 more	Copy number loss	See cases	GPathogenic
Select item 59156	GRCh38/hg38 9q34.3(chr9:137620211-137958459)x1	CACNA1B, CACNA1B-AS1 +24 more	Copy number loss	See cases	GPathogenic
Select item 1286347	NC_000009.12:g.137877547C>T	CACNA1B, LOC100133077	Single nucleotide variant	not provided	GBenign
Select item 1267900	NC_000009.12:g.137877578C>A	CACNA1B, LOC100133077	Single nucleotide variant	not provided	GBenign
Select item 1183389	NC_000009.12:g.137877642C>A	CACNA1B, LOC100133077	Single nucleotide variant	not provided	GBenign
Select item 1326615	NC_000009.12:g.137877731C>T	CACNA1B, LOC100133077	Single nucleotide variant	not provided	GLikely benign
Select item 1321510	NM_000718.4(CACNA1B):c.18C>T (p.Asp6=)	CACNA1B, LOC100133077	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 374676	NM_000718.4(CACNA1B):c.30C>T (p.Gly10=)	CACNA1B, LOC100133077	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1222494	NM_000718.4(CACNA1B):c.49G>A (p.Gly17Ser)	CACNA1B, LOC100133077 (G17S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1237524	NM_000718.4(CACNA1B):c.57G>A (p.Glu19=)	CACNA1B, LOC100133077	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1317163	NM_000718.4(CACNA1B):c.92G>T (p.Gly31Val)	CACNA1B, LOC100133077 (G31V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3343210	NM_000718.4(CACNA1B):c.160_161del (p.Arg54fs)	CACNA1B, LOC100133077 (R54fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1317106	NM_000718.4(CACNA1B):c.228C>G (p.Phe76Leu)	CACNA1B, LOC100133077 (F76L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1320618	NM_000718.4(CACNA1B):c.284_284+1insTCCATTCGAGT	CACNA1B, LOC100133077	Insertion (splice donor variant)	not provided	GLikely benign
Select item 1245135	NM_000718.4(CACNA1B):c.284+8GCCGGGCGGG[2]	CACNA1B, LOC100133077	Microsatellite (intron variant)	not provided	GBenign
Select item 1276779	NM_000718.4(CACNA1B):c.284+124G>C	CACNA1B, LOC100133077	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243545	NM_000718.4(CACNA1B):c.285-215C>G	CACNA1B, LOC100133077	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222747	NM_000718.4(CACNA1B):c.285-144T>G	CACNA1B, LOC100133077	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316619	NM_000718.4(CACNA1B):c.285-140G>A	CACNA1B, LOC100133077	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2501586	NM_000718.4(CACNA1B):c.390+1_390+2insACGACACGGAGCCC	CACNA1B, LOC100133077	Insertion (splice donor variant)	not provided	GLikely benign
Select item 1296095	NM_000718.4(CACNA1B):c.390+153C>G	CACNA1B, LOC100133077	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1710779	NM_000718.4(CACNA1B):c.390+201G>A	LOC100133077, CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239783	NM_000718.4(CACNA1B):c.391-218G>A	CACNA1B, LOC100133077	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182158	NM_000718.4(CACNA1B):c.391-91A>C	CACNA1B, LOC100133077	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227414	NM_000718.4(CACNA1B):c.391-42G>C	CACNA1B, LOC100133077	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246705	NM_000718.4(CACNA1B):c.391-34G>T	CACNA1B, LOC100133077	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221019	NM_000718.4(CACNA1B):c.494G>T (p.Gly165Val)	CACNA1B, LOC100133077 (G165V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 802555	NM_000718.4(CACNA1B):c.501C>G (p.Asn167Lys)	CACNA1B, LOC100133077 (N167K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1179646	NM_000718.4(CACNA1B):c.530+209T>C	CACNA1B, LOC100133077	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244169	NM_000718.4(CACNA1B):c.530+212C>T	LOC100133077, CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 711899	NM_000718.4(CACNA1B):c.570A>G (p.Thr190=)	CACNA1B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1316786	NM_000718.4(CACNA1B):c.623-59C>A	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326471	NM_000718.4(CACNA1B):c.775+41G>A	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320603	NM_000718.4(CACNA1B):c.775+210G>C	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317225	NM_000718.4(CACNA1B):c.775+300G>A	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3262696	NM_000718.4(CACNA1B):c.832G>A (p.Glu278Lys)	CACNA1B (E278K)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1318018	NM_000718.4(CACNA1B):c.967-68G>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321797	NM_000718.4(CACNA1B):c.967-51G>A	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317046	NM_000718.4(CACNA1B):c.967-20C>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1317145	NM_000718.4(CACNA1B):c.967-11C>G	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 774891	NM_000718.4(CACNA1B):c.967-8G>A	CACNA1B	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements +1 more	GConflicting classifications of pathogenicity
Select item 3343660	NM_000718.4(CACNA1B):c.973G>C (p.Asp325His)	CACNA1B (D325H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1241862	NM_000718.4(CACNA1B):c.1070+127G>A	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273792	NM_000718.4(CACNA1B):c.1070+331_1070+370del	CACNA1B	Microsatellite (intron variant)	not provided	GBenign
Select item 1317509	NM_000718.4(CACNA1B):c.1070+331A>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3370658	NM_000718.4(CACNA1B):c.1159G>A (p.Gly387Arg)	CACNA1B (G387R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328681	NM_000718.4(CACNA1B):c.1187-313G>A	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238540	NM_000718.4(CACNA1B):c.1187-203C>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328808	NM_000718.4(CACNA1B):c.1187-102_1187-101dup	CACNA1B	Duplication (intron variant)	not provided	GLikely benign
Select item 1300583	NM_000718.4(CACNA1B):c.1187-101dup	CACNA1B	Duplication (intron variant)	not provided	GBenign
Select item 1706084	NM_000718.4(CACNA1B):c.1187-101del	CACNA1B	Deletion (intron variant)	not provided	GLikely benign
Select item 1278096	NM_000718.4(CACNA1B):c.1243+66G>A	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328680	NM_000718.4(CACNA1B):c.1244-243T>G	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317144	NM_000718.4(CACNA1B):c.1470C>T (p.Cys490=)	CACNA1B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1268872	NM_000718.4(CACNA1B):c.1488A>T (p.Thr496=)	CACNA1B	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1281720	NM_000718.4(CACNA1B):c.1506G>A (p.Val502=)	CACNA1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3252518	NM_000718.4(CACNA1B):c.1514A>G (p.Asn505Ser)	CACNA1B (N505S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274126	NM_000718.4(CACNA1B):c.1543+145T>C	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316787	NM_000718.4(CACNA1B):c.1543+174T>C	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317330	NM_000718.4(CACNA1B):c.1656+17A>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1317008	NM_000718.4(CACNA1B):c.1656+70A>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220949	NM_000718.4(CACNA1B):c.1656+207A>C	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1708907	NM_000718.4(CACNA1B):c.1657-234G>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283449	NM_000718.4(CACNA1B):c.1657-24A>G	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279196	NM_000718.4(CACNA1B):c.1683G>A (p.Val561=)	CACNA1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3342529	NM_000718.4(CACNA1B):c.1703C>T (p.Pro568Leu)	CACNA1B (P568L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1247975	NM_000718.4(CACNA1B):c.1769+201C>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229088	NM_000718.4(CACNA1B):c.1770-270C>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317874	NM_000718.4(CACNA1B):c.1770-229G>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316788	NM_000718.4(CACNA1B):c.1901+74C>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 784512	NM_000718.4(CACNA1B):c.1953C>T (p.Ala651=)	CACNA1B	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1270476	NM_000718.4(CACNA1B):c.1974+8A>C	CACNA1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1333066	NM_000718.4(CACNA1B):c.1974+49C>G	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175683	NM_000718.4(CACNA1B):c.1975-268G>A	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317007	NM_000718.4(CACNA1B):c.1975-100C>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317226	NM_000718.4(CACNA1B):c.1975-74C>A	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244087	NM_000718.4(CACNA1B):c.1975-73A>G	CACNA1B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1328676	NM_000718.4(CACNA1B):c.1975-46G>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317331	NM_000718.4(CACNA1B):c.1975-43G>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032031	NM_000718.4(CACNA1B):c.1994G>A (p.Trp665Ter)	CACNA1B (W665*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1317789	NM_000718.4(CACNA1B):c.2092+69G>A	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317047	NM_000718.4(CACNA1B):c.2092+102C>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320646	NM_000718.4(CACNA1B):c.2092+136G>A	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683977	NM_000718.4(CACNA1B):c.2093-60C>A	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 770757	NM_000718.4(CACNA1B):c.2093-4C>A	CACNA1B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1277003	NM_000718.4(CACNA1B):c.2160+111G>A	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3370248	NM_000718.4(CACNA1B):c.2192del (p.Gln731fs)	CACNA1B (Q731fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1333068	NM_000718.4(CACNA1B):c.2267+15del	CACNA1B, LOC108254695	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1317317	NM_000718.4(CACNA1B):c.2268-206T>G	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1290780	NM_000718.4(CACNA1B):c.2268-194dup	CACNA1B	Duplication (intron variant)	not provided	GBenign
Select item 1257170	NM_000718.4(CACNA1B):c.2268-195_2268-194dup	CACNA1B	Duplication (intron variant)	not provided	GBenign
Select item 1287436	NM_000718.4(CACNA1B):c.2268-195_2268-194del	CACNA1B	Deletion (intron variant)	not provided	GBenign
Select item 1227886	NM_000718.4(CACNA1B):c.2268-197_2268-194del	CACNA1B	Deletion (intron variant)	not provided	GBenign
Select item 1317927	NM_000718.4(CACNA1B):c.2268-203G>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296104	NM_000718.4(CACNA1B):c.2268-202G>T	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236521	NM_000718.4(CACNA1B):c.2268-72G>C	CACNA1B	Single nucleotide variant (intron variant)	not provided	GBenign

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