ClinVar for Gene (Select 1890) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3343924	NM_001953.5(TYMP):c.494A>G (p.Asn165Ser)	TYMP (N165S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343506	NM_001953.5(TYMP):c.1283_1284delinsAA (p.Gly428Glu)	LOC130067862, SCO2 +1 more (G428E +1 more)	Indel (missense variant +2 more)	not provided	GLikely pathogenic
Select item 3341465	NM_001953.5(TYMP):c.454G>T (p.Gly152Ter)	TYMP (G152*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 3338737	NM_001953.5(TYMP):c.1145T>C (p.Leu382Pro)	LOC130067862, SCO2 +1 more (L382P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3330424	NM_001953.5(TYMP):c.677G>C (p.Gly226Ala)	TYMP (G226A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3240673	NM_001953.5(TYMP):c.554_561del (p.Val185fs)	TYMP (V185fs)	Deletion (frameshift variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 3240672	NM_001953.5(TYMP):c.736G>T (p.Glu246Ter)	TYMP (E246*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 3240671	NM_001953.5(TYMP):c.748G>T (p.Glu250Ter)	TYMP (E250*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 3240670	NM_001953.5(TYMP):c.765+2T>C	TYMP	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 1	GLikely pathogenic
Select item 3185246	NM_001953.5(TYMP):c.767T>G (p.Val256Gly)	TYMP (V256G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185245	NM_001953.5(TYMP):c.436C>T (p.Arg146Cys)	TYMP (R146C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185244	NM_001953.5(TYMP):c.410G>T (p.Gly137Val)	TYMP (G137V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185243	NM_001953.5(TYMP):c.1408C>T (p.Pro470Ser)	LOC130067862, SCO2 +1 more (P475S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3185242	NM_001953.5(TYMP):c.124A>G (p.Met42Val)	TYMP (M42V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185241	NM_001953.5(TYMP):c.1189C>A (p.Leu397Met)	LOC130067862, SCO2 +1 more (L402M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3185240	NM_001953.5(TYMP):c.1021G>C (p.Gly341Arg)	LOC130067862, SCO2 +1 more (G341R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065101	NM_001953.5(TYMP):c.356G>A (p.Gly119Glu)	TYMP (G119E)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 3064705	NM_001953.5(TYMP):c.833G>A (p.Gly278Asp)	TYMP (G278D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 1	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062443	GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	ACR, ADM2 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062441	GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	ARSA, BRD1 +33 more	Copy number loss	not specified	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 3031371	NM_001953.5(TYMP):c.*6C>T	SCO2, TYMP	Single nucleotide variant (3 prime UTR variant +1 more)	TYMP-related disorder	GLikely benign
Select item 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 3022149	NM_001953.5(TYMP):c.1301-14C>T	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020452	NM_001953.5(TYMP):c.21G>A (p.Pro7=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018155	NM_001953.5(TYMP):c.1405G>A (p.Ala469Thr)	LOC130067862, SCO2 +1 more (A474T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012803	NM_001953.5(TYMP):c.765+12G>A	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012195	NM_001953.5(TYMP):c.999G>A (p.Ala333=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3012048	NM_001953.5(TYMP):c.1255dup (p.Val419fs)	LOC130067862, SCO2 +1 more (V419fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 3011600	NM_001953.5(TYMP):c.472C>T (p.Leu158=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007194	NM_001953.5(TYMP):c.1377C>G (p.Leu459=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006303	NM_001953.5(TYMP):c.647-7C>T	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004659	NM_001953.5(TYMP):c.57C>T (p.Ser19=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003451	NM_001953.5(TYMP):c.215-20C>T	LOC130067864, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003090	NM_001953.5(TYMP):c.798C>T (p.Val266=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002778	NM_001953.5(TYMP):c.9C>T (p.Ala3=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000076	NM_001953.5(TYMP):c.888C>A (p.Gly296=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999390	NM_001953.5(TYMP):c.214+19G>A	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998520	NM_001953.5(TYMP):c.1407C>A (p.Ala469=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	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 2996845	NM_001953.5(TYMP):c.1392C>T (p.Arg464=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2996142	NM_001953.5(TYMP):c.928+12G>A	LOC130067862, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995805	NM_001953.5(TYMP):c.837C>T (p.Arg279=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990793	NM_001953.5(TYMP):c.525G>A (p.Val175=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989390	NM_001953.5(TYMP):c.646+13C>A	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984927	NM_001953.5(TYMP):c.201G>A (p.Gln67=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983445	NM_001953.5(TYMP):c.1407C>T (p.Ala469=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2981549	NM_001953.5(TYMP):c.960G>A (p.Ala320=)	LOC130067862, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981023	NM_001953.5(TYMP):c.432C>T (p.Ser144=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980953	NM_001953.5(TYMP):c.1141C>T (p.Leu381=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2979142	NM_001953.5(TYMP):c.1221G>A (p.Gly407=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2976929	NM_001953.5(TYMP):c.944G>A (p.Trp315Ter)	LOC130067862, TYMP (W315*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2976195	NM_001953.5(TYMP):c.766-4_766-3insT	TYMP	Insertion (intron variant)	not provided	GLikely benign
Select item 2976082	NM_001953.5(TYMP):c.765+13G>A	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973369	NM_001953.5(TYMP):c.517-16G>C	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972298	NM_001953.5(TYMP):c.1260C>T (p.Gly420=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2971690	NM_001953.5(TYMP):c.886G>C (p.Gly296Arg)	TYMP (G296R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971508	NM_001953.5(TYMP):c.1428C>A (p.Leu476=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2969345	NM_001953.5(TYMP):c.928+17G>T	LOC130067862, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969344	NM_001953.5(TYMP):c.928+19del	LOC130067862, TYMP	Deletion (intron variant)	not provided	GLikely benign
Select item 2969075	NM_001953.5(TYMP):c.1182G>A (p.Ala394=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2966841	NM_001953.5(TYMP):c.115C>T (p.Leu39=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966141	NM_001953.5(TYMP):c.1300+15dup	TYMP, LOC130067862 +1 more	Duplication (intron variant)	not provided	GBenign
Select item 2960809	NM_001953.5(TYMP):c.928+13G>T	LOC130067862, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959855	NM_001953.5(TYMP):c.766-13C>T	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957503	NM_001953.5(TYMP):c.1159+14G>C	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920537	NM_001953.5(TYMP):c.516+15G>A	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919969	NM_001953.5(TYMP):c.647-15C>G	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919512	NM_001953.5(TYMP):c.1014G>A (p.Ser338=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2917548	NM_001953.5(TYMP):c.765+18T>C	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917224	NM_001953.5(TYMP):c.417+20C>A	TYMP	Single nucleotide variant (intron 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 2915965	NM_001953.5(TYMP):c.928+10dup	LOC130067862, TYMP	Duplication (intron variant)	not provided	GLikely benign
Select item 2913923	NM_001953.5(TYMP):c.1159+14G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913615	NM_001953.5(TYMP):c.1159+12G>C	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913367	NM_001953.5(TYMP):c.517-16G>A	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910920	NM_001953.5(TYMP):c.1160-17A>G	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant +1 more)	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 2908921	NM_001953.5(TYMP):c.1116G>A (p.Leu372=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	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 2905967	NM_001953.5(TYMP):c.1159+11G>C	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902289	NM_001953.5(TYMP):c.1329C>T (p.Asp443=)	SCO2, TYMP +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2901099	NM_001953.5(TYMP):c.391C>T (p.Pro131Ser)	TYMP (P131S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2900290	NM_001953.5(TYMP):c.646+17G>A	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899015	NM_001953.5(TYMP):c.417+20C>T	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897052	NM_001953.5(TYMP):c.1301-12C>G	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896659	NM_001953.5(TYMP):c.214+12G>A	TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894671	NM_001953.5(TYMP):c.929-16C>A	LOC130067862, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893621	NM_001953.5(TYMP):c.684C>T (p.Ser228=)	TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893005	NM_001953.5(TYMP):c.963G>T (p.Gly321=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892505	NM_001953.5(TYMP):c.1161C>T (p.Gly387=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	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 2890245	NM_001953.5(TYMP):c.929-11C>T	LOC130067862, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888017	NM_001953.5(TYMP):c.1201C>T (p.Leu401=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2887380	NM_001953.5(TYMP):c.819G>A (p.Met273Ile)	TYMP (M273I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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