Related gene-specific medical variations for Gene (Select 1890) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380733	NM_001953.5(TYMP):c.1063G>A (p.Gly355Ser)	LOC130067862, SCO2 +1 more (G355S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3366805	NM_001953.5(TYMP):c.932G>A (p.Gly311Asp)	LOC130067862, TYMP (G311D)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 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 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 3022149	NM_001953.5(TYMP):c.1301-14C>T	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron 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 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)	SCO2, TYMP +1 more (V419fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
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 3003451	NM_001953.5(TYMP):c.215-20C>T	LOC130067864, 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 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 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 2972298	NM_001953.5(TYMP):c.1260C>T (p.Gly420=)	TYMP, LOC130067862 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2966141	NM_001953.5(TYMP):c.1300+15dup	LOC130067862, SCO2 +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 2957503	NM_001953.5(TYMP):c.1159+14G>C	LOC130067862, SCO2 +1 more	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 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 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=)	SCO2, TYMP +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=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	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 2894671	NM_001953.5(TYMP):c.929-16C>A	LOC130067862, TYMP	Single nucleotide variant (intron 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 2887282	NM_001953.5(TYMP):c.1301-20A>G	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887170	NM_001953.5(TYMP):c.1160-19T>C	TYMP, LOC130067862 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885826	NM_001953.5(TYMP):c.929-18A>C	LOC130067862, TYMP	Single nucleotide variant (intron 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 2881151	NM_001953.5(TYMP):c.1281G>C (p.Val427=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2878809	NM_001953.5(TYMP):c.1332C>G (p.Gly444=)	SCO2, TYMP +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2875966	NM_001953.5(TYMP):c.987G>A (p.Arg329=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2866953	NM_001953.5(TYMP):c.1030G>T (p.Glu344Ter)	LOC130067862, SCO2 +1 more (E344*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2862639	NM_001953.5(TYMP):c.1386C>G (p.Ser462=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	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 2852472	NM_001953.5(TYMP):c.1179G>A (p.Arg393=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2850697	NM_001953.5(TYMP):c.1191G>A (p.Leu397=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2849049	NM_001953.5(TYMP):c.1300+8C>A	TYMP, LOC130067862 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844701	NM_001953.5(TYMP):c.1160-11T>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2842159	NM_001953.5(TYMP):c.928+8G>T	LOC130067862, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842079	NM_001953.5(TYMP):c.1011C>A (p.Gly337=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2837097	NM_001953.5(TYMP):c.1078del (p.Leu360fs)	LOC130067862, SCO2 +1 more (L360fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2836624	NM_001953.5(TYMP):c.1212C>G (p.Leu404=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2835216	NM_001953.5(TYMP):c.928+17G>A	LOC130067862, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835188	NM_001953.5(TYMP):c.1249C>T (p.Leu417=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2823367	NM_001953.5(TYMP):c.1086G>A (p.Ser362=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2817428	NM_001953.5(TYMP):c.1272G>A (p.Leu424=)	SCO2, TYMP +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2816194	NM_001953.5(TYMP):c.277C>T (p.Gln93Ter)	LOC130067864, TYMP (Q93*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2808355	NM_001953.5(TYMP):c.1160-6C>T	LOC130067862, SCO2 +1 more (P390L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2807639	NM_001953.5(TYMP):c.933C>T (p.Gly311=)	LOC130067862, TYMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806715	NM_001953.5(TYMP):c.1215G>C (p.Gly405=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2805803	NM_001953.5(TYMP):c.1301-13C>T	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805278	NM_001953.5(TYMP):c.928+18T>G	LOC130067862, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804365	NM_001953.5(TYMP):c.1167G>A (p.Val389=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2803242	NM_001953.5(TYMP):c.1077C>A (p.Ala359=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2802689	NM_001953.5(TYMP):c.1159+13G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798871	NM_001953.5(TYMP):c.1026C>G (p.Arg342=)	TYMP, LOC130067862 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2787324	NM_001953.5(TYMP):c.1437G>T (p.Pro479=)	SCO2, TYMP +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776479	NM_001953.5(TYMP):c.1425G>A (p.Glu475=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2771683	NM_001953.5(TYMP):c.929-2A>T	LOC130067862, TYMP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2767144	NM_001953.5(TYMP):c.1250del (p.Leu417fs)	LOC130067862, SCO2 +1 more (L417fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2763491	NM_001953.5(TYMP):c.993C>T (p.Ala331=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2740951	NM_001953.5(TYMP):c.215-11C>T	LOC130067864, TYMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740366	NM_001953.5(TYMP):c.1159+19C>T	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2728584	NM_001953.5(TYMP):c.1215_1224dup (p.Ser409fs)	LOC130067862, SCO2 +1 more (S409fs +1 more)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2704218	NM_001953.5(TYMP):c.1035G>T (p.Arg345=)	SCO2, TYMP +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2699998	NM_001953.5(TYMP):c.1226del (p.Ser409fs)	SCO2, TYMP +1 more (S414fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
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 2694411	NM_001953.5(TYMP):c.1095C>A (p.Pro365=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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