"GeneDx"[submitter] AND "TIMMDC1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 983214	NM_016589.4(TIMMDC1):c.385C>T (p.Arg129Ter)	TIMMDC1 (R129*)	Single nucleotide variant (nonsense)	Mitochondrial complex 1 deficiency, nuclear type 31 +1 more	GPathogenic/Likely pathogenic
Select item 1296855	NM_016589.4(TIMMDC1):c.597-1458C>T	TIMMDC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1703278	NM_016589.4(TIMMDC1):c.707G>A (p.Trp236Ter)	TIMMDC1 (W236*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1288301	NM_005191.4(CD80):c.*780A>T	CD80, TIMMDC1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253772	GRCh37/hg19 3q13.33(chr3:119188677-119500810)x3	CFAP91, PLA1A +7 more	Copy number gain	See cases	GUncertain significance

ClinVar