ClinVar for MedGen (Select 1824031) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573081	NM_004146.6(NDUFB7):c.311G>A (p.Arg104Gln)	NDUFB7 (R104Q)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 39	GUncertain significance
Select item 997769	NM_004146.6(NDUFB7):c.113-10C>G	NDUFB7	Single nucleotide variant (intron variant)	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	GLikely pathogenic