TRMT1L[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 144788	GRCh38/hg38 1q25.3(chr1:184102589-185593977)x1	C1orf21, C1orf21-DT +37 more	Copy number loss	See cases	GUncertain significance
Select item 148400	GRCh38/hg38 1q25.3-31.1(chr1:184271950-186238594)x1	C1orf21, C1orf21-DT +46 more	Copy number loss	See cases	GUncertain significance
Select item 144456	GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1	GS1-204I12.4, HMCN1 +44 more	Copy number loss	See cases	GPathogenic
Select item 2253668	NM_030934.5(TRMT1L):c.2167G>A (p.Asp723Asn)	TRMT1L (D567N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283089	NM_030934.5(TRMT1L):c.2080C>A (p.Pro694Thr)	TRMT1L (P538T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400680	NM_030934.5(TRMT1L):c.1970A>G (p.Tyr657Cys)	TRMT1L (Y657C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329082	NM_030934.5(TRMT1L):c.1798A>G (p.Thr600Ala)	TRMT1L (T444A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390512	NM_030934.5(TRMT1L):c.1751A>G (p.Asn584Ser)	TRMT1L (N428S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321299	NM_030934.5(TRMT1L):c.1730T>C (p.Ile577Thr)	TRMT1L (I577T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229825	NM_030934.5(TRMT1L):c.1435G>A (p.Ala479Thr)	TRMT1L (A479T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339616	NM_030934.5(TRMT1L):c.1432A>G (p.Thr478Ala)	TRMT1L (T478A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183024	NM_030934.5(TRMT1L):c.1396G>C (p.Val466Leu)	TRMT1L (V310L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183023	NM_030934.5(TRMT1L):c.1385T>G (p.Val462Gly)	TRMT1L (V462G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183022	NM_030934.5(TRMT1L):c.1330G>A (p.Ala444Thr)	TRMT1L (A288T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183021	NM_030934.5(TRMT1L):c.1166T>C (p.Ile389Thr)	TRMT1L (I233T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492775	NM_030934.5(TRMT1L):c.1165A>G (p.Ile389Val)	TRMT1L (I233V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183020	NM_030934.5(TRMT1L):c.1049A>C (p.Asn350Thr)	TRMT1L (N194T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333347	NM_030934.5(TRMT1L):c.1019T>C (p.Ile340Thr)	TRMT1L (I340T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320737	NM_030934.5(TRMT1L):c.1006A>G (p.Lys336Glu)	TRMT1L (K180E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3183036	NM_030934.5(TRMT1L):c.944T>C (p.Leu315Pro)	TRMT1L (L159P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357042	NM_030934.5(TRMT1L):c.887A>T (p.His296Leu)	TRMT1L (H140L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183035	NM_030934.5(TRMT1L):c.825A>C (p.Lys275Asn)	TRMT1L (K119N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329080	NM_030934.5(TRMT1L):c.811G>T (p.Ala271Ser)	TRMT1L (A115S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183034	NM_030934.5(TRMT1L):c.778C>T (p.Arg260Trp)	TRMT1L (R260W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591215	NM_030934.5(TRMT1L):c.697G>C (p.Asp233His)	TRMT1L (D233H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639641	NM_030934.5(TRMT1L):c.665C>T (p.Ala222Val)	TRMT1L (A222V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3183032	NM_030934.5(TRMT1L):c.575C>A (p.Thr192Lys)	TRMT1L (T192K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390416	NM_030934.5(TRMT1L):c.506C>T (p.Pro169Leu)	TRMT1L (P13L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390832	NM_030934.5(TRMT1L):c.505C>T (p.Pro169Ser)	TRMT1L (P13S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329081	NM_030934.5(TRMT1L):c.395G>A (p.Cys132Tyr)	TRMT1L (C132Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3183031	NM_030934.5(TRMT1L):c.358G>A (p.Ala120Thr)	TRMT1L (A120T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2599415	NM_030934.5(TRMT1L):c.244A>G (p.Ile82Val)	TRMT1L (I82V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2261039	NM_030934.5(TRMT1L):c.226G>T (p.Ala76Ser)	TRMT1L (A76S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183029	NM_030934.5(TRMT1L):c.218C>G (p.Pro73Arg)	TRMT1L (P73R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183028	NM_030934.5(TRMT1L):c.214G>C (p.Ala72Pro)	TRMT1L (A72P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524690	NM_030934.5(TRMT1L):c.212C>G (p.Ser71Cys)	TRMT1L (S71C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183027	NM_030934.5(TRMT1L):c.187C>G (p.Pro63Ala)	TRMT1L (P63A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183025	NM_030934.5(TRMT1L):c.167C>A (p.Ala56Asp)	TRMT1L (A56D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518399	NM_030934.5(TRMT1L):c.109C>T (p.Pro37Ser)	TRMT1L (P37S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183033	NM_030934.5(TRMT1L):c.70G>T (p.Val24Phe)	TRMT1L (V24F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381766	NM_030934.5(TRMT1L):c.47A>T (p.Glu16Val)	TRMT1L (E16V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409286	NM_030934.5(TRMT1L):c.9T>A (p.Asn3Lys)	TRMT1L (N3K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 974719	NC_000001.11:g.185140652_185163497dup	SWT1, TRMT1L	Duplication	Megacolon	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 65