C0023264[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 333780	NM_005006.7(NDUFS1):c.2006A>G (p.Asn669Ser)	NDUFS1 (N669S +4 more)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 142601	NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	SDHA (R31*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +9 more	GPathogenic/Likely pathogenic
Select item 224957	NM_004168.4(SDHA):c.113A>T (p.Asp38Val)	SDHA (D38V)	Single nucleotide variant (missense variant)	Paragangliomas 5 +7 more	GBenign/Likely benign
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +12 more	GPathogenic/Likely pathogenic
Select item 9734	NC_012920.1(MT-ND1):m.3946G>A	MT-ND1	Single nucleotide variant	Leber optic atrophy +2 more	GPathogenic/Likely pathogenic
Select item 9579	NC_012920.1(MT-TK):m.8344A>G	MT-TK	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9645	NC_012920.1(MT-ATP6):m.8851T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9641	NC_012920.1(MT-ATP6):m.8993T>G	MT-ATP6, MT-ATP8 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9644	NC_012920.1(MT-ATP6):m.9176T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9647	NC_012920.1(MT-ATP6):m.9185T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9702	NC_012920.1(MT-ND5):m.13513G>A	MT-ND5	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9688	NC_012920.1(MT-ND6):m.14484T>C	MT-ND6	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database