"Ambry Genetics"[submitter] AND "TRMT13"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2297775	NM_019083.3(TRMT13):c.5C>A (p.Ala2Glu)	TRMT13 (A2E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479274	NM_019083.3(TRMT13):c.55T>C (p.Cys19Arg)	TRMT13 (C19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183018	NM_019083.3(TRMT13):c.71A>G (p.Glu24Gly)	TRMT13 (E24G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287348	NM_019083.3(TRMT13):c.116G>C (p.Arg39Thr)	TRMT13 (R39T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462901	NM_019083.3(TRMT13):c.168A>C (p.Arg56Ser)	TRMT13 (R56S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183017	NM_019083.3(TRMT13):c.328C>T (p.Pro110Ser)	TRMT13 (P110S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550635	NM_019083.3(TRMT13):c.447T>G (p.Asp149Glu)	TRMT13 (D111E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394263	NM_019083.3(TRMT13):c.454A>G (p.Asn152Asp)	TRMT13 (N114D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609297	NM_019083.3(TRMT13):c.585A>T (p.Lys195Asn)	TRMT13 (K181N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494331	NM_019083.3(TRMT13):c.589T>G (p.Ser197Ala)	TRMT13 (S159A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235208	NM_019083.3(TRMT13):c.818A>G (p.Asp273Gly)	TRMT13 (D273G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527978	NM_019083.3(TRMT13):c.887C>G (p.Ala296Gly)	TRMT13 (A258G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183019	NM_019083.3(TRMT13):c.935C>A (p.Ala312Asp)	TRMT13 (A312D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247871	NM_019083.3(TRMT13):c.969G>T (p.Lys323Asn)	TRMT13 (K323N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183014	NM_019083.3(TRMT13):c.1013A>G (p.His338Arg)	TRMT13 (H324R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2242240	NM_019083.3(TRMT13):c.1060C>G (p.Leu354Val)	TRMT13 (L316V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2596545	NM_019083.3(TRMT13):c.1097G>A (p.Arg366Gln)	TRMT13 (R328Q +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2620809	NM_019083.3(TRMT13):c.1151A>T (p.Asn384Ile)	TRMT13 (N346I +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3183016	NM_019083.3(TRMT13):c.1288C>A (p.Leu430Ile)	LRRC39, TRMT13 (L430I +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2393090	NM_019083.3(TRMT13):c.1288C>T (p.Leu430Phe)	LRRC39, TRMT13 (L392F +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2274786	NM_019083.3(TRMT13):c.1346G>T (p.Ser449Ile)	LRRC39, TRMT13 (S411I +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2385602	NM_019083.3(TRMT13):c.1411C>T (p.Pro471Ser)	LRRC39, TRMT13 (P457S +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance

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Items: 22