C3278664[trait identifier] AND "Counsyl"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 555168	NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)	MMUT (L736F)	Single nucleotide variant (missense variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GConflicting classifications of pathogenicity
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 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 558684	NM_018006.5(TRMU):c.880del (p.Arg294fs)	TRMU (R154fs +2 more)	Deletion (frameshift variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GPathogenic/Likely pathogenic
Select item 552491	NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)	TRMU	Duplication (inframe_insertion +2 more)	Aminoglycoside-induced deafness +3 more	GConflicting classifications of pathogenicity

ClinVar