"Ambry Genetics"[submitter] AND "TRMT2A"[gene] - ClinVar

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

Search results

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2345912	NM_022727.6(TRMT2A):c.1862C>T (p.Thr621Ile)	TRMT2A (T621I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3329085	NM_022727.6(TRMT2A):c.1837G>A (p.Asp613Asn)	TRMT2A (D631N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3329084	NM_022727.6(TRMT2A):c.1823C>T (p.Thr608Ile)	TRMT2A (T626I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3183044	NM_022727.6(TRMT2A):c.1819C>A (p.Pro607Thr)	TRMT2A (P607T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2483868	NM_022727.6(TRMT2A):c.1739G>A (p.Cys580Tyr)	TRMT2A (C598Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2285838	NM_022727.6(TRMT2A):c.1724C>T (p.Pro575Leu)	TRMT2A (P575L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3183042	NM_022727.6(TRMT2A):c.1633G>A (p.Gly545Ser)	TRMT2A (G563S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510901	NM_022727.6(TRMT2A):c.1621C>T (p.Arg541Trp)	TRMT2A (R541W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183041	NM_022727.6(TRMT2A):c.1614C>G (p.Cys538Trp)	TRMT2A (C556W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398677	NM_022727.6(TRMT2A):c.1573C>T (p.Arg525Trp)	TRMT2A (R543W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183040	NM_022727.6(TRMT2A):c.1391C>T (p.Pro464Leu)	TRMT2A (P464L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183039	NM_022727.6(TRMT2A):c.1381G>A (p.Glu461Lys)	TRMT2A (E479K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183038	NM_022727.6(TRMT2A):c.1373T>C (p.Ile458Thr)	TRMT2A (I476T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622786	NM_022727.6(TRMT2A):c.1337T>G (p.Ile446Ser)	TRMT2A (I446S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183037	NM_022727.6(TRMT2A):c.1282G>A (p.Ala428Thr)	TRMT2A (A428T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209914	NM_022727.6(TRMT2A):c.1240A>G (p.Thr414Ala)	TRMT2A (T414A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370055	NM_022727.6(TRMT2A):c.1208G>A (p.Arg403Gln)	TRMT2A (R403Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329088	NM_022727.6(TRMT2A):c.1169A>G (p.Asp390Gly)	TRMT2A (D390G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290049	NM_022727.6(TRMT2A):c.1160T>C (p.Val387Ala)	TRMT2A (V387A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367934	NM_022727.6(TRMT2A):c.1125G>T (p.Lys375Asn)	TRMT2A (K375N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292578	NM_022727.6(TRMT2A):c.1022A>T (p.Glu341Val)	TRMT2A (E341V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329089	NM_022727.6(TRMT2A):c.986T>C (p.Ile329Thr)	TRMT2A (I329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183053	NM_022727.6(TRMT2A):c.983C>T (p.Ala328Val)	TRMT2A (A328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616409	NM_022727.6(TRMT2A):c.964C>T (p.Arg322Cys)	TRMT2A (R322C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212628	NM_022727.6(TRMT2A):c.955C>T (p.Arg319Cys)	TRMT2A (R319C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183052	NM_022727.6(TRMT2A):c.952G>A (p.Val318Met)	TRMT2A (V318M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315640	NM_022727.6(TRMT2A):c.889C>T (p.Arg297Trp)	TRMT2A (R297W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400494	NM_022727.6(TRMT2A):c.835G>A (p.Val279Met)	TRMT2A (V279M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183051	NM_022727.6(TRMT2A):c.797A>G (p.Lys266Arg)	TRMT2A (K266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216523	NM_022727.6(TRMT2A):c.745G>A (p.Val249Ile)	TRMT2A (V249I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329086	NM_022727.6(TRMT2A):c.743G>C (p.Gly248Ala)	TRMT2A (G248A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276116	NM_022727.6(TRMT2A):c.722A>G (p.Asn241Ser)	TRMT2A (N241S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183050	NM_022727.6(TRMT2A):c.686G>C (p.Gly229Ala)	TRMT2A (G229A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230085	NM_022727.6(TRMT2A):c.685G>A (p.Gly229Arg)	TRMT2A (G229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614228	NM_022727.6(TRMT2A):c.683A>C (p.Glu228Ala)	TRMT2A (E228A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459342	NM_022727.6(TRMT2A):c.682G>A (p.Glu228Lys)	TRMT2A (E228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285612	NM_022727.6(TRMT2A):c.656A>G (p.Lys219Arg)	TRMT2A (K219R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282765	NM_022727.6(TRMT2A):c.574G>A (p.Glu192Lys)	TRMT2A (E192K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473474	NM_022727.6(TRMT2A):c.556C>T (p.Arg186Trp)	TRMT2A (R186W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257580	NM_022727.6(TRMT2A):c.524T>C (p.Leu175Pro)	RANBP1, TRMT2A (L175P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459043	NM_022727.6(TRMT2A):c.515T>C (p.Val172Ala)	RANBP1, TRMT2A (V172A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329083	NM_022727.6(TRMT2A):c.508G>A (p.Asp170Asn)	RANBP1, TRMT2A (D170N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400730	NM_022727.6(TRMT2A):c.488C>T (p.Pro163Leu)	RANBP1, TRMT2A (P163L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183048	NM_022727.6(TRMT2A):c.434G>A (p.Arg145Gln)	RANBP1, TRMT2A (R145Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365820	NM_022727.6(TRMT2A):c.382G>A (p.Val128Ile)	RANBP1, TRMT2A (T24M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329523	NM_022727.6(TRMT2A):c.380G>T (p.Arg127Leu)	RANBP1, TRMT2A (R25S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358653	NM_022727.6(TRMT2A):c.334G>A (p.Ala112Thr)	RANBP1, TRMT2A (A112T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389220	NM_022727.6(TRMT2A):c.317T>C (p.Phe106Ser)	RANBP1, TRMT2A (K46E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183047	NM_022727.6(TRMT2A):c.296A>T (p.Gln99Leu)	RANBP1, TRMT2A (C53S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346878	NM_022727.6(TRMT2A):c.284G>A (p.Arg95His)	RANBP1, TRMT2A (R57W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183046	NM_022727.6(TRMT2A):c.254G>C (p.Ser85Thr)	RANBP1, TRMT2A (L67V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183045	NM_022727.6(TRMT2A):c.206C>G (p.Thr69Ser)	RANBP1, TRMT2A (T69S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183043	NM_022727.6(TRMT2A):c.175C>G (p.Leu59Val)	RANBP1, TRMT2A (L59V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560888	NM_022727.6(TRMT2A):c.44G>A (p.Ser15Asn)	RANBP1, TRMT2A (S15N)	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: 54