ClinVar for Gene (Select 130067864) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 114

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3003451	NM_001953.5(TYMP):c.215-20C>T	LOC130067864, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998081	NM_001953.5(TYMP):c.289C>T (p.Gln97Ter)	LOC130067864, TYMP (Q97*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2978297	NM_001953.5(TYMP):c.219C>T (p.Ala73=)	LOC130067864, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916462	NM_001953.5(TYMP):c.215-19G>A	LOC130067864, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910855	NM_001953.5(TYMP):c.215-18C>T	LOC130067864, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907973	NM_001953.5(TYMP):c.216G>A (p.Gly72=)	LOC130067864, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890355	NM_001953.5(TYMP):c.246C>A (p.Gly82=)	LOC130067864, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883505	NM_001953.5(TYMP):c.215-7A>G	LOC130067864, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853298	NM_001953.5(TYMP):c.221T>G (p.Met74Arg)	LOC130067864, TYMP (M74R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816194	NM_001953.5(TYMP):c.277C>T (p.Gln93Ter)	LOC130067864, TYMP (Q93*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2740951	NM_001953.5(TYMP):c.215-11C>T	LOC130067864, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2698837	NM_001953.5(TYMP):c.225G>A (p.Leu75=)	LOC130067864, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579283	GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1	ACR, ADM2 +178 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 2323567	NM_001953.5(TYMP):c.220A>C (p.Met74Leu)	LOC130067864, TYMP (M74L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192338	NM_001953.5(TYMP):c.215-17G>C	LOC130067864, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2165109	NM_001953.5(TYMP):c.215-17G>A	LOC130067864, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2146613	NM_001953.5(TYMP):c.246C>T (p.Gly82=)	LOC130067864, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101508	NM_001953.5(TYMP):c.215-6T>A	LOC130067864, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2030165	NM_001953.5(TYMP):c.231del (p.Ile78fs)	LOC130067864, TYMP (I78fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2025144	NM_001953.5(TYMP):c.245dup (p.Met83fs)	LOC130067864, TYMP (M83fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2020163	NM_001953.5(TYMP):c.261G>A (p.Glu87=)	TYMP, LOC130067864	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1978387	NM_001953.5(TYMP):c.215-4C>T	LOC130067864, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972934	NM_001953.5(TYMP):c.234C>G (p.Ile78Met)	LOC130067864, TYMP (I78M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920963	NM_001953.5(TYMP):c.255G>A (p.Leu85=)	LOC130067864, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1703238	Single allele	ACR, LOC130067783 +166 more	Duplication	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 1691348	NM_001953.5(TYMP):c.278A>T (p.Gln93Leu)	LOC130067864, TYMP (Q93L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679643	Single allele	LOC130067853, LOC130067854 +117 more	Duplication	not provided	GUncertain significance
Select item 1627915	NM_001953.5(TYMP):c.234C>T (p.Ile78=)	LOC130067864, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1602090	NM_001953.5(TYMP):c.258G>A (p.Glu86=)	LOC130067864, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598606	NM_001953.5(TYMP):c.215-10del	LOC130067864, TYMP	Deletion (intron variant)	not provided	GBenign
Select item 1570665	NM_001953.5(TYMP):c.264C>A (p.Thr88=)	LOC130067864, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565296	NM_001953.5(TYMP):c.252T>C (p.Asp84=)	TYMP, LOC130067864	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1456105	NM_001953.5(TYMP):c.235C>T (p.Arg79Ter)	LOC130067864, TYMP (R79*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1104475	NM_001953.5(TYMP):c.237A>T (p.Arg79=)	LOC130067864, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1099729	NM_001953.5(TYMP):c.264C>T (p.Thr88=)	LOC130067864, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095514	NM_001953.5(TYMP):c.267G>C (p.Ser89=)	LOC130067864, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976874	NC_000022.11:g.49181210_50759297del	DENND6B, HDAC10 +190 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976873	NC_000022.11:g.46467175_50759338del	LOC130067779, LOC130067780 +281 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 976871	NC_000022.11:g.48500337_50739785del	ACR, ADM2 +206 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 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 976868	NC_000022.11:g.47447433_50806138del	LOC126863188, LOC129391286 +228 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 976866	NC_000022.11:g.47705262_50739836del	LOC130067774, LOC130067775 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976865	NC_000022.11:g.45708330_50737364del	TRABD, TRABD-AS1 +338 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976864	NC_000022.11:g.46269281_50740560del	ACR, ADM2 +295 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 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976861	NC_000022.11:g.47823120_50759410del	LOC130067781, LOC130067782 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 870755	NM_001953.5(TYMP):c.274del (p.Thr92fs)	LOC130067864, TYMP (T92fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 793239	NM_001953.5(TYMP):c.267G>A (p.Ser89=)	LOC130067864, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 448846	NM_001953.5(TYMP):c.221T>A (p.Met74Lys)	LOC130067864, TYMP (M74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 384376	NM_001953.5(TYMP):c.231C>T (p.Ala77=)	LOC130067864, TYMP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 382092	NM_001953.5(TYMP):c.215-8C>T	LOC130067864, TYMP	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 223079	NM_001953.5(TYMP):c.263_264del (p.Thr88fs)	LOC130067864, TYMP (T88fs)	Deletion (frameshift variant)	Mitochondrial DNA depletion syndrome 1	GPathogenic
Select item 223022	NM_001953.5(TYMP):c.275C>A (p.Thr92Asn)	LOC130067864, TYMP (T92N)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 223021	NM_001953.5(TYMP):c.261G>T (p.Glu87Asp)	TYMP, LOC130067864 (E87D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1	GPathogenic
Select item 223020	NM_001953.5(TYMP):c.261G>C (p.Glu87Asp)	LOC130067864, TYMP (E87D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1	GPathogenic
Select item 223019	NM_001953.5(TYMP):c.228G>A (p.Met76Ile)	LOC130067864, TYMP (M76I)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1 +1 more	GUncertain significance
Select item 215328	NM_001953.5(TYMP):c.281C>T (p.Ala94Val)	LOC130067864, TYMP (A94V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 160981	GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3	ADM2, CHKB +52 more	Copy number gain	See cases	GUncertain significance
Select item 155641	GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1	LOC121853048, LOC125446259 +184 more	Copy number loss	See cases	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 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	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 154200	GRCh38/hg38 22q13.33(chr22:50485457-50759410)x1	ACR, ADM2 +55 more	Copy number loss	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 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	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 152137	GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1	ACR, ADM2 +260 more	Copy number loss	See cases	GPathogenic
Select item 151373	GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1	ACR, ADM2 +124 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 148302	GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1	ACR, ADM2 +207 more	Copy number loss	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 147807	GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1	ACR, ADM2 +204 more	Copy number loss	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 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 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 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	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 146870	GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3	ADM2, ARSA +123 more	Copy number gain	See cases	GUncertain significance
Select item 146391	GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1	ACR, ADM2 +185 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 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	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 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	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 144377	GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 144225	GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1	ACR, ADM2 +186 more	Copy number loss	See cases	GPathogenic
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 137872	NM_001953.5(TYMP):c.242G>A (p.Arg81Gln)	LOC130067864, TYMP (R81Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	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 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57704	GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 2