C4749921[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2422036	NM_012123.4(MTO1):c.8A>G (p.Tyr3Cys)	MTO1 (Y3C)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +2 more	GUncertain significance
Select item 540425	NM_012123.4(MTO1):c.176G>C (p.Gly59Ala)	MTO1 (G59A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1018673	NM_012123.4(MTO1):c.253G>A (p.Gly85Arg)	MTO1 (G85R)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +1 more	GUncertain significance
Select item 1003326	NM_012123.4(MTO1):c.521G>A (p.Ser174Asn)	MTO1 (S174N)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +2 more	GUncertain significance
Select item 559216	NM_012123.4(MTO1):c.593G>C (p.Arg198Thr)	MTO1 (R198T)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 70511	NM_012123.4(MTO1):c.919G>A (p.Glu307Lys)	MTO1 (E307K)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	GUncertain significance
Select item 240850	NM_012123.4(MTO1):c.922A>G (p.Thr308Ala)	MTO1 (T308A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 473197	NM_012123.4(MTO1):c.983G>A (p.Arg328His)	MTO1 (R328H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 138274	NM_012123.4(MTO1):c.1180T>C (p.Leu394=)	MTO1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 35496	NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)	MTO1 (A428T +2 more)	Single nucleotide variant (missense variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +3 more	GPathogenic/Likely pathogenic
Select item 1982231	NM_012123.4(MTO1):c.1585A>C (p.Lys529Gln)	MTO1 (K569Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 138277	NM_012123.4(MTO1):c.1894C>T (p.Leu632=)	MTO1	Single nucleotide variant (synonymous variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +2 more	GBenign/Likely benign
Select item 138278	NM_012123.4(MTO1):c.1918-7T>G	MTO1	Single nucleotide variant (intron variant)	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +1 more	GBenign
Select item 547882	NM_012123.4(MTO1):c.1996C>T (p.Arg666Ter)	MTO1 (R691* +2 more)	Single nucleotide variant (nonsense)	not specified +2 more	GUncertain significance
Select item 1355211	NM_012123.4(MTO1):c.2011A>G (p.Met671Val)	MTO1 (M696V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1523263	NM_012123.4(MTO1):c.2044T>C (p.Cys682Arg)	MTO1 (C722R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity