"Ambry Genetics"[submitter] AND "TRMT1L"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38