ClinVar for Gene (Select 57570) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3348066	NM_020810.3(TRMT5):c.1063G>T (p.Asp355Tyr)	TRMT5 (D355Y +2 more)	Single nucleotide variant (missense variant)	TRMT5-related disorder	GUncertain significance
Select item 3329102	NM_020810.3(TRMT5):c.103T>G (p.Trp35Gly)	TRMT5 (W62G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329101	NM_020810.3(TRMT5):c.1241C>T (p.Pro414Leu)	TRMT5 (P414L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329100	NM_020810.3(TRMT5):c.392A>T (p.Glu131Val)	TRMT5 (E131V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329099	NM_020810.3(TRMT5):c.1023A>T (p.Lys341Asn)	TRMT5 (K369N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183080	NM_020810.3(TRMT5):c.821T>G (p.Phe274Cys)	TRMT5 (F274C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183079	NM_020810.3(TRMT5):c.686A>G (p.Lys229Arg)	TRMT5 (K229R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3183077	NM_020810.3(TRMT5):c.1180G>C (p.Glu394Gln)	TRMT5 (E421Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063319	GRCh37/hg19 14q23.1(chr14:61409856-61547375)x1	MNAT1, SLC38A6 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3054908	NM_020810.3(TRMT5):c.11+24G>C	TRMT5	Single nucleotide variant (5 prime UTR variant +1 more)	TRMT5-related disorder	GLikely benign
Select item 3052703	NM_020810.3(TRMT5):c.-101A>C	LOC130055775, TRMT5 (E15D)	Single nucleotide variant (missense variant +1 more)	TRMT5-related disorder	GBenign
Select item 3050603	NM_020810.3(TRMT5):c.1419C>G (p.Leu473=)	TRMT5	Single nucleotide variant (synonymous variant)	TRMT5-related disorder	GLikely benign
Select item 3048691	NM_020810.3(TRMT5):c.11+90G>A	TRMT5	Single nucleotide variant (synonymous variant +1 more)	TRMT5-related disorder	GLikely benign
Select item 3043369	NM_020810.3(TRMT5):c.-55G>T	LOC130055775, TRMT5 (G31W)	Single nucleotide variant (missense variant +1 more)	TRMT5-related disorder	GBenign
Select item 2998044	NM_020810.3(TRMT5):c.876C>T (p.Ile292=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996898	NM_020810.3(TRMT5):c.87G>A (p.Ser29=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970423	NM_020810.3(TRMT5):c.1200G>A (p.Lys400=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890805	NM_020810.3(TRMT5):c.486T>C (p.Leu162=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851837	NM_020810.3(TRMT5):c.1098A>G (p.Glu366=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828527	NM_020810.3(TRMT5):c.12-19_12-18insC	TRMT5	Insertion (intron variant)	not provided	GLikely benign
Select item 2791798	NM_020810.3(TRMT5):c.468C>T (p.Leu156=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779392	NM_020810.3(TRMT5):c.459A>G (p.Lys153=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777178	NM_020810.3(TRMT5):c.963C>T (p.Cys321=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776269	NM_020810.3(TRMT5):c.793-12A>C	TRMT5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2764015	NM_020810.3(TRMT5):c.744A>T (p.Arg248=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751224	NM_020810.3(TRMT5):c.30T>C (p.Phe10=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644272	NM_020810.3(TRMT5):c.888C>G (p.Leu296=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619548	NM_153811.3(SLC38A6):c.67G>A (p.Glu23Lys)	LOC130055775, SLC38A6 +1 more (E23K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610690	NM_020810.3(TRMT5):c.155G>C (p.Gly52Ala)	TRMT5 (G80A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547702	NM_020810.3(TRMT5):c.614A>G (p.His205Arg)	TRMT5 (H232R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542567	NM_020810.3(TRMT5):c.538T>C (p.Phe180Leu)	TRMT5 (F180L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493645	NM_020810.3(TRMT5):c.611G>T (p.Gly204Val)	TRMT5 (G204V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477091	NM_020810.3(TRMT5):c.1457A>T (p.Asp486Val)	TRMT5 (D514V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474581	NM_020810.3(TRMT5):c.497C>T (p.Pro166Leu)	TRMT5 (P166L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426618	NC_000014.8:g.(?_61444212)_(61447691_?)dup	TRMT5	Duplication	not provided	GUncertain significance
Select item 2426617	NC_000014.8:g.(?_61441827)_(61447691_?)del	TRMT5	Deletion	not provided	GUncertain significance
Select item 2425450	NC_000014.8:g.(?_60976117)_(61447691_?)del	MNAT1, SIX1 +3 more	Deletion	not provided	GUncertain significance
Select item 2418207	NM_020810.3(TRMT5):c.667G>T (p.Gly223Cys)	TRMT5 (G223C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418118	NM_020810.3(TRMT5):c.207G>T (p.Glu69Asp)	TRMT5 (E69D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414552	NM_020810.3(TRMT5):c.1412C>T (p.Ser471Phe)	TRMT5 (S471F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414272	NM_020810.3(TRMT5):c.1230T>C (p.Ser410=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414210	NM_020810.3(TRMT5):c.415A>C (p.Met139Leu)	TRMT5 (M139L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2406245	NM_020810.3(TRMT5):c.781A>G (p.Met261Val)	TRMT5 (M261V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2305778	NM_020810.3(TRMT5):c.1313T>C (p.Val438Ala)	TRMT5 (V466A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280102	NM_020810.3(TRMT5):c.198T>G (p.His66Gln)	TRMT5 (H66Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273340	NM_020810.3(TRMT5):c.158A>G (p.Gln53Arg)	TRMT5 (Q81R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269874	NM_020810.3(TRMT5):c.356A>G (p.Gln119Arg)	TRMT5 (Q119R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262527	NM_020810.3(TRMT5):c.584A>G (p.Asp195Gly)	TRMT5 (D195G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261306	NM_020810.3(TRMT5):c.1441C>G (p.Pro481Ala)	TRMT5 (P481A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238409	NM_020810.3(TRMT5):c.1151T>C (p.Val384Ala)	TRMT5 (V384A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236347	NM_020810.3(TRMT5):c.123G>A (p.Met41Ile)	TRMT5 (M41I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232648	NM_020810.3(TRMT5):c.586G>A (p.Val196Ile)	TRMT5 (V224I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219952	NM_020810.3(TRMT5):c.640C>T (p.His214Tyr)	TRMT5 (H242Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200671	NM_020810.3(TRMT5):c.328A>G (p.Met110Val)	TRMT5 (M110V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192566	NM_020810.3(TRMT5):c.1295G>A (p.Arg432Gln)	TRMT5 (R432Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189419	NM_020810.3(TRMT5):c.1177A>G (p.Ile393Val)	TRMT5 (I420V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189233	NM_020810.3(TRMT5):c.793-4del	TRMT5	Deletion (intron variant)	not provided	GBenign
Select item 2185794	NM_020810.3(TRMT5):c.667+10T>C	TRMT5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2180900	NM_020810.3(TRMT5):c.667+4C>T	TRMT5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2176729	NM_020810.3(TRMT5):c.933C>T (p.Pro311=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174484	NM_020810.3(TRMT5):c.1500C>T (p.Asp500=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172025	NM_020810.3(TRMT5):c.1335A>G (p.Ala445=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2151295	NM_020810.3(TRMT5):c.1445-3C>G	TRMT5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2139707	NM_020810.3(TRMT5):c.25C>T (p.Pro9Ser)	TRMT5 (P36S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2134923	NM_020810.3(TRMT5):c.1309G>A (p.Ala437Thr)	TRMT5 (A437T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130380	NM_020810.3(TRMT5):c.1138C>A (p.Pro380Thr)	TRMT5 (P380T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125801	NM_020810.3(TRMT5):c.90G>A (p.Leu30=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124723	NM_020810.3(TRMT5):c.414_416del (p.Ile138del)	TRMT5 (I138del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2120359	NM_020810.3(TRMT5):c.118_119del (p.Gln40fs)	TRMT5 (Q40fs +2 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2117641	NM_020810.3(TRMT5):c.1146G>A (p.Val382=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2116957	NM_020810.3(TRMT5):c.580C>T (p.Gln194Ter)	TRMT5 (Q222* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2110629	NM_020810.3(TRMT5):c.1444+4A>G	TRMT5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2109265	NM_020810.3(TRMT5):c.1525A>G (p.Thr509Ala)	TRMT5 (T537A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109037	NM_020810.3(TRMT5):c.1241C>A (p.Pro414His)	TRMT5 (P441H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106872	NM_020810.3(TRMT5):c.835G>C (p.Val279Leu)	TRMT5 (V306L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104382	NM_020810.3(TRMT5):c.728T>C (p.Ile243Thr)	TRMT5 (I243T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104101	NM_020810.3(TRMT5):c.1395G>C (p.Thr465=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2101941	NM_020810.3(TRMT5):c.1289A>C (p.Asp430Ala)	TRMT5 (D430A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098978	NM_020810.3(TRMT5):c.75T>G (p.Thr25=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098139	NM_020810.3(TRMT5):c.616A>G (p.Ile206Val)	TRMT5 (I206V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2096229	NM_020810.3(TRMT5):c.107C>T (p.Thr36Ile)	TRMT5 (T36I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094961	NM_020810.3(TRMT5):c.946G>T (p.Val316Leu)	TRMT5 (V316L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093705	NM_020810.3(TRMT5):c.792+8T>A	TRMT5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2090302	NM_020810.3(TRMT5):c.1442C>G (p.Pro481Arg)	TRMT5 (P509R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079195	NM_020810.3(TRMT5):c.311A>G (p.Glu104Gly)	TRMT5 (E104G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073817	NM_020810.3(TRMT5):c.1462C>T (p.Pro488Ser)	TRMT5 (P515S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072218	NM_020810.3(TRMT5):c.656A>G (p.Lys219Arg)	TRMT5 (K247R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2069216	NM_020810.3(TRMT5):c.243C>T (p.Gly81=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2063917	NM_020810.3(TRMT5):c.425C>T (p.Pro142Leu)	TRMT5 (P169L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063655	NM_020810.3(TRMT5):c.550G>A (p.Glu184Lys)	TRMT5 (E184K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056375	NM_020810.3(TRMT5):c.1421A>C (p.Tyr474Ser)	TRMT5 (Y502S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055110	NM_020810.3(TRMT5):c.134C>T (p.Ala45Val)	TRMT5 (A72V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2052051	NM_020810.3(TRMT5):c.446A>T (p.Asp149Val)	TRMT5 (D149V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048841	NM_020810.3(TRMT5):c.466C>G (p.Leu156Val)	TRMT5 (L156V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023410	NM_020810.3(TRMT5):c.1300A>C (p.Arg434=)	TRMT5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018647	NM_020810.3(TRMT5):c.667+13_667+14del	TRMT5	Deletion (intron variant)	not provided	GLikely benign

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