ClinVar for MedGen (Select 1765544) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064510	NM_016360.4(TACO1):c.255_258del (p.Leu84_Cys85insTer)	TACO1	Deletion (nonsense)	Mitochondrial complex 4 deficiency, nuclear type 8	GLikely pathogenic
Select item 2443079	NM_016360.4(TACO1):c.280+1G>C	TACO1	Single nucleotide variant (splice donor variant)	Mitochondrial complex 4 deficiency, nuclear type 8 +1 more	GPathogenic/Likely pathogenic
Select item 2436927	NM_016360.4(TACO1):c.693+4A>G	TACO1	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 8	GUncertain significance
Select item 2436926	NM_016360.4(TACO1):c.814G>A (p.Asp272Asn)	TACO1 (D272N)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 8	GUncertain significance
Select item 1514943	NM_016360.4(TACO1):c.448A>G (p.Ile150Val)	TACO1 (I150V)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 8 +1 more	GUncertain significance
Select item 1394869	NM_016360.4(TACO1):c.685G>A (p.Val229Ile)	TACO1 (V229I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1380080	NM_016360.4(TACO1):c.847C>G (p.Leu283Val)	TACO1 (L283V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1205818	NM_016360.4(TACO1):c.873C>T (p.His291=)	TACO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1029447	NM_016360.4(TACO1):c.476A>G (p.Lys159Arg)	TACO1 (K159R)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 8 +1 more	GUncertain significance
Select item 982266	NM_016360.4(TACO1):c.421C>T (p.Arg141Ter)	TACO1 (R141*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 736395	NM_016360.4(TACO1):c.66C>T (p.Pro22=)	TACO1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 718962	NM_016360.4(TACO1):c.27A>G (p.Leu9=)	TACO1	Single nucleotide variant (synonymous variant)	Mitochondrial complex 4 deficiency, nuclear type 8 +1 more	GLikely benign
Select item 516716	NM_016360.4(TACO1):c.327A>G (p.Leu109=)	TACO1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 389411	NM_016360.4(TACO1):c.819G>A (p.Leu273=)	TACO1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 411	NM_016360.4(TACO1):c.472dup (p.His158fs)	TACO1 (H158fs)	Duplication (frameshift variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic