6305[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1930

<< First< Prev

Page of 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	See cases	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57672	GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	See cases	GPathogenic
Select item 57947	GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	LOC130067697, LOC130067698 +396 more	Copy number gain	See cases	GPathogenic
Select item 57264	GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	ACR, ADM2 +371 more	Copy number loss	See cases	GPathogenic
Select item 57673	GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1	ACR, ADM2 +343 more	Copy number loss	See cases	GPathogenic
Select item 976865	NC_000022.11:g.45708330_50737364del	TRABD, TRABD-AS1 +338 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976872	NC_000022.11:g.45819932_50737806del	ADM2, ALG12 +333 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57398	GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1	ACR, ADM2 +315 more	Copy number loss	See cases	GPathogenic
Select item 976864	NC_000022.11:g.46269281_50740560del	ACR, ADM2 +295 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 155420	GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1	LOC130067809, LOC130067810 +288 more	Copy number loss	See cases	GPathogenic
Select item 976873	NC_000022.11:g.46467175_50759338del	LOC130067779, LOC130067780 +281 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976869	NC_000022.11:g.46489644_50806138del	LOC126863185, LOC126863186 +282 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152137	GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1	ACR, ADM2 +260 more	Copy number loss	See cases	GPathogenic
Select item 146310	GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1	LOC130067846, LOC130067847 +240 more	Copy number loss	See cases	GPathogenic
Select item 57674	GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1	LOC126863173, LOC126863174 +235 more	Copy number loss	See cases	GPathogenic
Select item 57675	GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1	ACR, ADM2 +230 more	Copy number loss	See cases	GPathogenic
Select item 976868	NC_000022.11:g.47447433_50806138del	LOC126863188, LOC129391286 +228 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976863	NC_000022.11:g.47513236_50806138del	ACR, ADM2 +226 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976866	NC_000022.11:g.47705262_50739836del	LOC130067774, LOC130067775 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57193	GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1	ACR, ADM2 +221 more	Copy number loss	See cases	GPathogenic
Select item 976861	NC_000022.11:g.47823120_50759410del	LOC130067781, LOC130067782 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57701	GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1	ACR, ADM2 +211 more	Copy number loss	See cases	GPathogenic
Select item 154522	GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1	ACR, ADM2 +210 more	Copy number loss	See cases	GPathogenic
Select item 976871	NC_000022.11:g.48500337_50739785del	ACR, ADM2 +206 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976867	NC_000022.11:g.48500344_50780581del	LOC126863183, LOC126863184 +207 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 148302	GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1	ACR, ADM2 +207 more	Copy number loss	See cases	GPathogenic
Select item 147807	GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1	ACR, ADM2 +204 more	Copy number loss	See cases	GPathogenic
Select item 57703	GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1	ACR, ADM2 +204 more	Copy number loss	See cases	GPathogenic
Select item 976874	NC_000022.11:g.49181210_50759297del	DENND6B, HDAC10 +190 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 144225	GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1	ACR, ADM2 +186 more	Copy number loss	See cases	GPathogenic
Select item 144377	GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 57704	GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 146391	GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 155641	GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1	LOC121853048, LOC125446259 +184 more	Copy number loss	See cases	GPathogenic
Select item 150859	GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 2579283	GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1	ACR, ADM2 +178 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1703238	Single allele	ACR, LOC130067783 +166 more	Duplication	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 1679643	Single allele	LOC130067853, LOC130067854 +117 more	Duplication	not provided	GUncertain significance
Select item 146870	GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3	ADM2, ARSA +123 more	Copy number gain	See cases	GUncertain significance
Select item 151373	GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1	ACR, ADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 147719	GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3	ACR, ADM2 +84 more	Copy number gain	See cases	GBenign
Select item 160981	GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3	ADM2, CHKB +52 more	Copy number gain	See cases	GUncertain significance
Select item 32818	GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3	ADM2, CHKB +52 more	Copy number gain	See cases	GUncertain significance
Select item 1218491	NM_002972.4(SBF1):c.*148CGCCC[4]	SBF1	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1193044	NM_002972.4(SBF1):c.*112C>T	SBF1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1219790	NM_002972.4(SBF1):c.*76T>C	SBF1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3316236	NM_002972.4(SBF1):c.5677G>A (p.Ala1893Thr)	SBF1 (A1868T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728333	NM_002972.4(SBF1):c.5676C>T (p.Asp1892=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108952	NM_002972.4(SBF1):c.5664_5673del (p.Ser1888fs)	SBF1 (S1863fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 739996	NM_002972.4(SBF1):c.5673G>A (p.Ser1891=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426884	NM_002972.4(SBF1):c.5672C>T (p.Ser1891Leu)	SBF1 (S1866L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2966126	NM_002972.4(SBF1):c.5664C>T (p.Ser1888=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192305	NM_002972.4(SBF1):c.5654G>A (p.Arg1885Gln)	SBF1 (R1860Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1899753	NM_002972.4(SBF1):c.5653C>T (p.Arg1885Trp)	SBF1 (R1859W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2028977	NM_002972.4(SBF1):c.5637C>G (p.Ala1879=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2177010	NM_002972.4(SBF1):c.5634G>A (p.Ser1878=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1401406	NM_002972.4(SBF1):c.5633C>T (p.Ser1878Leu)	SBF1 (S1853L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 707840	NM_002972.4(SBF1):c.5630C>T (p.Pro1877Leu)	SBF1 (P1852L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2087170	NM_002972.4(SBF1):c.5629C>T (p.Pro1877Ser)	SBF1 (P1878S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981173	NM_002972.4(SBF1):c.5627T>C (p.Val1876Ala)	SBF1 (V1851A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503062	NM_002972.4(SBF1):c.5626G>A (p.Val1876Met)	SBF1 (V1851M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718820	NM_002972.4(SBF1):c.5625C>T (p.Asp1875=)	SBF1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B3 +1 more	GBenign/Likely benign
Select item 1365054	NM_002972.4(SBF1):c.5614T>G (p.Cys1872Gly)	SBF1 (C1872G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1561193	NM_002972.4(SBF1):c.5613C>T (p.Phe1871=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1473980	NM_002972.4(SBF1):c.5611T>C (p.Phe1871Leu)	SBF1 (F1846L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1613652	NM_002972.4(SBF1):c.5604T>G (p.Val1868=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789362	NM_002972.4(SBF1):c.5604T>C (p.Val1868=)	SBF1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 4B3 +1 more	GBenign/Likely benign
Select item 2004183	NM_002972.4(SBF1):c.5601C>A (p.Arg1867=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1546446	NM_002972.4(SBF1):c.5601C>T (p.Arg1867=)	SBF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370674	NM_002972.4(SBF1):c.5597G>A (p.Arg1866His)	SBF1 (R1866H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2693992	NM_002972.4(SBF1):c.5596C>A (p.Arg1866Ser)	SBF1 (R1867S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167480	NM_002972.4(SBF1):c.5596C>T (p.Arg1866Cys)	SBF1 (R1841C +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 994230	NM_002972.4(SBF1):c.5595G>A (p.Thr1865=)	SBF1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1413195	NM_002972.4(SBF1):c.5594C>T (p.Thr1865Met)	SBF1 (T1865M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475730	NM_002972.4(SBF1):c.5593del (p.Thr1865fs)	SBF1 (T1840fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1390386	NM_002972.4(SBF1):c.5593A>G (p.Thr1865Ala)	SBF1 (T1840A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

<< First< Prev

Page of 20