ClinVar for Gene (Select 55621) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361751	NM_001136035.4(TRMT1):c.1852G>A (p.Asp618Asn)	TRMT1 (D357N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339129	NM_001136035.4(TRMT1):c.713del (p.Pro238fs)	TRMT1 (P202fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal recessive 68	GPathogenic
Select item 3329058	NM_001136035.4(TRMT1):c.181G>C (p.Ala61Pro)	TRMT1 (A61P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3329056	NM_001136035.4(TRMT1):c.854G>A (p.Arg285Gln)	TRMT1 (R24Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329055	NM_001136035.4(TRMT1):c.1258G>C (p.Gly420Arg)	TRMT1 (G159R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329054	NM_001136035.4(TRMT1):c.1057G>T (p.Ala353Ser)	TRMT1 (A317S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3329053	NM_001136035.4(TRMT1):c.1300G>A (p.Val434Ile)	TRMT1 (V173I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329052	NM_001136035.4(TRMT1):c.1201C>A (p.Pro401Thr)	TRMT1 (P365T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329051	NM_001136035.4(TRMT1):c.718A>C (p.Thr240Pro)	TRMT1 (T240P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3329050	NM_001136035.4(TRMT1):c.1009G>A (p.Ala337Thr)	TRMT1 (A301T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253197	NM_001136035.4(TRMT1):c.1376C>T (p.Thr459Ile)	TRMT1 (T198I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3242727	NC_000019.9:g.(?_13183841)_(13617038_?)del	CACNA1A, IER2 +5 more	Deletion	not provided	GUncertain significance
Select item 3234225	NM_001136035.4(TRMT1):c.1227C>T (p.Gly409=)	TRMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3182984	NM_001136035.4(TRMT1):c.684C>G (p.Asp228Glu)	TRMT1 (D192E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182983	NM_001136035.4(TRMT1):c.619C>T (p.Gln207Ter)	TRMT1 (Q171* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 3182982	NM_001136035.4(TRMT1):c.463C>T (p.His155Tyr)	TRMT1 (H119Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182981	NM_001136035.4(TRMT1):c.1963G>T (p.Gly655Trp)	TRMT1 (G655W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182979	NM_001136035.4(TRMT1):c.1528C>T (p.Arg510Trp)	TRMT1 (R249W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182978	NM_001136035.4(TRMT1):c.1498C>T (p.Arg500Cys)	TRMT1 (R471C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182977	NM_001136035.4(TRMT1):c.1496T>C (p.Met499Thr)	TRMT1 (M238T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182976	NM_001136035.4(TRMT1):c.1423C>T (p.Arg475Trp)	TRMT1 (R214W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182975	NM_001136035.4(TRMT1):c.138A>C (p.Glu46Asp)	TRMT1 (E10D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3182974	NM_001136035.4(TRMT1):c.131A>G (p.Tyr44Cys)	TRMT1 (Y44C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3182973	NM_001136035.4(TRMT1):c.1243G>A (p.Val415Met)	TRMT1 (V154M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3182972	NM_001136035.4(TRMT1):c.1105C>T (p.Arg369Trp)	TRMT1 (R108W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067818	NM_001136035.4(TRMT1):c.691G>A (p.Asp231Asn)	TRMT1 (D195N +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal recessive 68	GLikely pathogenic
Select item 3063891	NM_001136035.4(TRMT1):c.1639G>T (p.Gly547Ter)	TRMT1 (G286* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 68	GPathogenic
Select item 3047428	NM_001136035.4(TRMT1):c.1338C>T (p.Tyr446=)	TRMT1	Single nucleotide variant (synonymous variant)	TRMT1-related disorder	GLikely benign
Select item 3046777	NM_001136035.4(TRMT1):c.927C>T (p.Phe309=)	TRMT1	Single nucleotide variant (synonymous variant)	TRMT1-related disorder	GLikely benign
Select item 3043385	NM_001136035.4(TRMT1):c.209A>G (p.Asn70Ser)	TRMT1 (N34S +1 more)	Single nucleotide variant (missense variant +1 more)	TRMT1-related disorder	GLikely benign
Select item 3042761	NM_001136035.4(TRMT1):c.1630C>A (p.Arg544=)	TRMT1	Single nucleotide variant (synonymous variant)	TRMT1-related disorder	GLikely benign
Select item 3025426	NM_001136035.4(TRMT1):c.1053C>T (p.Cys351=)	TRMT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025195	NM_001136035.4(TRMT1):c.1799G>A (p.Arg600Gln)	TRMT1 (R339Q +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024215	NM_001136035.4(TRMT1):c.1630C>T (p.Arg544Ter)	TRMT1 (R283* +3 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 68	GPathogenic
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2662956	NM_001136035.4(TRMT1):c.1137del (p.Pro379_Val380insTer)	TRMT1	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2649369	NM_001136035.4(TRMT1):c.633A>C (p.Ala211=)	TRMT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649368	NM_001136035.4(TRMT1):c.1101C>T (p.Ser367=)	TRMT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649367	NM_001136035.4(TRMT1):c.1257C>T (p.Pro419=)	TRMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649366	NM_001136035.4(TRMT1):c.1275G>A (p.Ser425=)	TRMT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2626914	NM_001136035.4(TRMT1):c.1485C>G (p.Leu495=)	TRMT1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2626911	NM_001136035.4(TRMT1):c.235G>A (p.Glu79Lys)	TRMT1 (E43K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2621730	NM_001136035.4(TRMT1):c.1118C>T (p.Ser373Phe)	TRMT1 (S344F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619390	NM_001136035.4(TRMT1):c.1564A>G (p.Ile522Val)	TRMT1 (I261V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611551	NM_001136035.4(TRMT1):c.1529G>A (p.Arg510Gln)	TRMT1 (R249Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610437	NM_001136035.4(TRMT1):c.1222G>A (p.Val408Met)	TRMT1 (V147M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582353	NM_001136035.4(TRMT1):c.1161_1162del (p.Cys387fs)	TRMT1 (C126fs +3 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder, autosomal recessive 68	GLikely pathogenic
Select item 2568786	NM_001136035.4(TRMT1):c.911A>G (p.Asn304Ser)	TRMT1 (N304S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2567954	NM_001136035.4(TRMT1):c.1345G>A (p.Asp449Asn)	TRMT1 (D413N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553122	NM_001136035.4(TRMT1):c.439G>T (p.Gly147Trp)	TRMT1 (G111W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551557	NM_001136035.4(TRMT1):c.600T>A (p.Asn200Lys)	TRMT1 (N200K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551061	NM_001136035.4(TRMT1):c.1105C>G (p.Arg369Gly)	TRMT1 (R369G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525874	NM_001136035.4(TRMT1):c.199C>A (p.Pro67Thr)	TRMT1 (P31T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525847	NM_001136035.4(TRMT1):c.514C>G (p.Leu172Val)	TRMT1 (L136V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520492	NM_001136035.4(TRMT1):c.631G>T (p.Ala211Ser)	TRMT1 (A211S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506000	NM_001136035.4(TRMT1):c.1847G>A (p.Arg616His)	TRMT1 (R355H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505869	NM_001136035.4(TRMT1):c.1903G>A (p.Ala635Thr)	TRMT1 (A374T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502435	NM_001136035.4(TRMT1):c.24_33del (p.Leu10fs)	TRMT1 (L10fs)	Deletion (frameshift variant +2 more)	Intellectual developmental disorder, autosomal recessive 68	GLikely pathogenic
Select item 2441950	NM_001136035.4(TRMT1):c.1385T>C (p.Leu462Pro)	TRMT1 (L201P +3 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 68	GUncertain significance
Select item 2429263	NM_001136035.4(TRMT1):c.1107-13C>T	TRMT1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2429090	NM_001136035.4(TRMT1):c.35del (p.Phe12fs)	TRMT1 (F12fs)	Deletion (frameshift variant +2 more)	Intellectual developmental disorder, autosomal recessive 68	GLikely pathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2423756	NC_000019.9:g.(?_13135448)_(13419362_?)dup	CACNA1A, IER2 +5 more	Duplication	Developmental and epileptic encephalopathy, 42 +3 more	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 2412904	NM_001136035.4(TRMT1):c.1042T>C (p.Cys348Arg)	TRMT1 (C312R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2409538	NM_001136035.4(TRMT1):c.328_330del (p.Lys110del)	TRMT1 (K74del +1 more)	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2408802	NM_001136035.4(TRMT1):c.580C>T (p.Arg194Cys)	TRMT1 (R158C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394130	NM_001136035.4(TRMT1):c.1649G>A (p.Arg550His)	TRMT1 (R521H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394095	NM_001136035.4(TRMT1):c.1147G>A (p.Glu383Lys)	TRMT1 (E122K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391859	NM_001136035.4(TRMT1):c.904C>T (p.Arg302Cys)	TRMT1 (R302C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390899	NM_001136035.4(TRMT1):c.928G>A (p.Val310Met)	TRMT1 (V274M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389479	NM_001136035.4(TRMT1):c.1883C>T (p.Thr628Ile)	TRMT1 (T592I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2382343	NM_001136035.4(TRMT1):c.85C>G (p.Pro29Ala)	TRMT1 (P29A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2374198	NM_001136035.4(TRMT1):c.1054G>A (p.Gly352Arg)	TRMT1 (G352R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2372954	NM_001136035.4(TRMT1):c.1942C>G (p.Pro648Ala)	TRMT1 (P619A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2369387	NM_001136035.4(TRMT1):c.1028C>T (p.Ala343Val)	TRMT1 (A307V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2355347	NM_001136035.4(TRMT1):c.125G>A (p.Gly42Glu)	TRMT1 (G6E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2353830	NM_001136035.4(TRMT1):c.343G>A (p.Val115Met)	TRMT1 (V115M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346125	NM_001136035.4(TRMT1):c.1789C>T (p.Arg597Trp)	TRMT1 (R568W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328827	NM_001136035.4(TRMT1):c.1961C>T (p.Ala654Val)	TRMT1 (A654V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318978	NM_001136035.4(TRMT1):c.1940C>T (p.Pro647Leu)	TRMT1 (P618L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305074	NM_001136035.4(TRMT1):c.830A>T (p.Tyr277Phe)	TRMT1 (Y241F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283732	NM_001136035.4(TRMT1):c.1274C>T (p.Ser425Leu)	TRMT1 (S425L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279810	NM_001136035.4(TRMT1):c.1228C>T (p.Arg410Cys)	TRMT1 (R410C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2277768	NM_001136035.4(TRMT1):c.1202_1204dup (p.Pro401_Ile402insThr)	TRMT1	Duplication (inframe_insertion)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2277109	NM_001136035.4(TRMT1):c.1110dup (p.Lys371fs)	TRMT1 (K110fs +3 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2273657	NM_001136035.4(TRMT1):c.1772C>T (p.Pro591Leu)	TRMT1 (P562L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270011	NM_001136035.4(TRMT1):c.1876C>A (p.Pro626Thr)	TRMT1 (P365T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245154	NM_001136035.4(TRMT1):c.698A>G (p.Asp233Gly)	TRMT1 (D233G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235040	NM_001136035.4(TRMT1):c.623C>T (p.Pro208Leu)	TRMT1 (P172L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233679	NM_001136035.4(TRMT1):c.1397G>A (p.Arg466Gln)	TRMT1 (R205Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232647	NM_001136035.4(TRMT1):c.1624A>G (p.Ser542Gly)	TRMT1 (S542G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231464	NM_001136035.4(TRMT1):c.1051T>C (p.Cys351Arg)	TRMT1 (C351R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231304	NM_001136035.4(TRMT1):c.871G>T (p.Ala291Ser)	TRMT1 (A291S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230082	NM_001136035.4(TRMT1):c.1020-5C>A	TRMT1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GLikely benign
Select item 2229694	NM_001136035.4(TRMT1):c.1254C>A (p.Asn418Lys)	TRMT1 (N389K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228110	NM_001136035.4(TRMT1):c.1097C>T (p.Pro366Leu)	TRMT1 (P330L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215850	NM_001136035.4(TRMT1):c.1169G>A (p.Arg390Gln)	TRMT1 (R129Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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