ClinVar for MedGen (Select 1799164) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1878258	NM_020810.3(TRMT5):c.267_270delinsCTG (p.Ala89_Phe90insTer)	TRMT5	Indel (frameshift variant)	Combined oxidative phosphorylation defect type 26	GLikely pathogenic
Select item 1690312	NM_020810.3(TRMT5):c.665T>C (p.Ile222Thr)	TRMT5 (I222T +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 26 +1 more	GConflicting classifications of pathogenicity
Select item 1032860	NM_020810.3(TRMT5):c.-2G>A	LOC130055775, TRMT5	Single nucleotide variant (5 prime UTR variant +1 more)	Combined oxidative phosphorylation defect type 26	GUncertain significance
Select item 1032859	NM_020810.3(TRMT5):c.171C>G (p.Phe57Leu)	TRMT5 (F84L +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 26 +1 more	GUncertain significance
Select item 715049	NM_020810.3(TRMT5):c.70A>G (p.Ile24Val)	TRMT5 (I51V +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 26 +2 more	GBenign/Likely benign
Select item 692100	NM_020810.3(TRMT5):c.1218G>C (p.Gln406His)	TRMT5 (Q406H +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 26	GUncertain significance
Select item 692099	NM_020810.3(TRMT5):c.1481C>T (p.Thr494Met)	TRMT5 (T494M +2 more)	Single nucleotide variant (missense variant)	TRMT5-related condition +1 more	GLikely benign
Select item 692098	NM_020810.3(TRMT5):c.881A>C (p.Glu294Ala)	TRMT5 (E294A +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 26 +1 more	GConflicting classifications of pathogenicity
Select item 372248	NM_020810.3(TRMT5):c.1156A>G (p.Met386Val)	TRMT5 (M386V +2 more)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 26	GPathogenic
Select item 372247	NM_020810.3(TRMT5):c.872G>A (p.Arg291His)	TRMT5 (R291H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372246	NM_020810.3(TRMT5):c.312_315del (p.Ile105fs)	TRMT5 (I105fs +2 more)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 26 +1 more	GConflicting classifications of pathogenicity