ClinVar for MedGen (Select 1648395) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2501222	NM_016589.4(TIMMDC1):c.194+2T>C	TIMMDC1	Single nucleotide variant (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 31	GLikely pathogenic
Select item 1723291	NM_016589.4(TIMMDC1):c.814del (p.Leu272fs)	TIMMDC1 (L272fs)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 31 +2 more	GUncertain significance
Select item 1723290	NM_016589.4(TIMMDC1):c.1A>G (p.Met1Val)	TIMMDC1 (M1V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 31	GLikely pathogenic
Select item 1709042	NM_016589.4(TIMMDC1):c.751G>T (p.Glu251Ter)	TIMMDC1 (E251*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 31	GUncertain significance
Select item 1709036	NM_016589.4(TIMMDC1):c.596+1del	TIMMDC1	Deletion (splice donor variant)	Mitochondrial complex 1 deficiency, nuclear type 31	GLikely pathogenic
Select item 1691015	NM_016589.4(TIMMDC1):c.410G>A (p.Arg137His)	TIMMDC1 (R137H)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1342212	NM_016589.4(TIMMDC1):c.597-35G>T	TIMMDC1	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 31	GBenign
Select item 1030568	NM_016589.4(TIMMDC1):c.361-5T>G	TIMMDC1	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 31	GUncertain significance
Select item 1030567	NM_016589.4(TIMMDC1):c.-2C>T	TIMMDC1	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex 1 deficiency, nuclear type 31	GUncertain significance
Select item 983214	NM_016589.4(TIMMDC1):c.385C>T (p.Arg129Ter)	TIMMDC1 (R129*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 809523	NM_016589.4(TIMMDC1):c.598A>G (p.Thr200Ala)	TIMMDC1 (T200A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 807710	NM_016589.4(TIMMDC1):c.524C>T (p.Thr175Met)	TIMMDC1 (T175M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 429020	NM_016589.4(TIMMDC1):c.597-1340A>G	TIMMDC1	Single nucleotide variant (intron variant)	Mitochondrial complex 1 deficiency, nuclear type 31 +1 more	GPathogenic