"TIMMDC1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049569	NM_016589.4(TIMMDC1):c.75C>G (p.Ala25=)	TIMMDC1	Single nucleotide variant (synonymous variant)	TIMMDC1-related disorder	GLikely benign
Select item 2760172	NM_016589.4(TIMMDC1):c.135C>T (p.Val45=)	TIMMDC1	Single nucleotide variant (synonymous variant)	TIMMDC1-related disorder +1 more	GLikely benign
Select item 1542422	NM_016589.4(TIMMDC1):c.226A>G (p.Asn76Asp)	TIMMDC1 (N76D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1617951	NM_016589.4(TIMMDC1):c.232T>C (p.Cys78Arg)	TIMMDC1 (C78R)	Single nucleotide variant (missense variant)	TIMMDC1-related disorder +1 more	GBenign
Select item 1621743	NM_016589.4(TIMMDC1):c.438G>C (p.Val146=)	TIMMDC1	Single nucleotide variant (synonymous variant)	TIMMDC1-related disorder +1 more	GBenign
Select item 3039255	NM_016589.4(TIMMDC1):c.546C>T (p.Asn182=)	TIMMDC1	Single nucleotide variant (synonymous variant)	TIMMDC1-related disorder	GLikely benign
Select item 1542433	NM_016589.4(TIMMDC1):c.649G>A (p.Val217Ile)	TIMMDC1 (V217I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1566242	NM_016589.4(TIMMDC1):c.705G>A (p.Glu235=)	TIMMDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1601579	NM_016589.4(TIMMDC1):c.708-10C>T	TIMMDC1	Single nucleotide variant (intron variant)	TIMMDC1-related disorder +1 more	GBenign

ClinVar