"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TRMU"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 341997	NM_018006.5(TRMU):c.-147C>A	TRMU	Single nucleotide variant	Aminoglycoside-induced deafness +2 more	GUncertain significance
Select item 1641286	NM_018006.5(TRMU):c.27C>T (p.Cys9=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	Aminoglycoside-induced deafness +2 more	GLikely benign
Select item 1290	NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)	TRMU (A10S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 557033	NM_018006.5(TRMU):c.40G>A (p.Gly14Ser)	TRMU (G14S)	Single nucleotide variant (5 prime UTR variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GUncertain significance
Select item 1355265	NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter)	TRMU (Y29*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1067268	NM_018006.5(TRMU):c.249-2A>G	TRMU	Single nucleotide variant (splice acceptor variant +1 more)	Aminoglycoside-induced deafness +2 more	GLikely pathogenic
Select item 597202	NM_018006.5(TRMU):c.333dup (p.His112fs)	TRMU (H112fs)	Duplication (frameshift variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1523468	NM_018006.5(TRMU):c.356-2_356-1del	TRMU	Deletion (splice acceptor variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GLikely pathogenic
Select item 137708	NM_018006.5(TRMU):c.387A>G (p.Ala129=)	TRMU (Q9R)	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 1071658	NM_018006.5(TRMU):c.803del (p.Ala268fs)	TRMU (A128fs +2 more)	Deletion (frameshift variant +1 more)	Aminoglycoside-induced deafness +2 more	GPathogenic/Likely pathogenic
Select item 30819	NM_018006.5(TRMU):c.835G>A (p.Val279Met)	TRMU (V279M +2 more)	Single nucleotide variant (missense variant +1 more)	Aminoglycoside-induced deafness +3 more	GPathogenic/Likely pathogenic
Select item 901050	NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys)	TRMU (Y187C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1346970	NM_018006.5(TRMU):c.1019-1G>A	TRMU	Single nucleotide variant (splice acceptor variant +1 more)	Aminoglycoside-induced deafness +2 more	GLikely pathogenic