ClinVar for MedGen (Select 310844) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254142	NM_001162529.3(FAM135A):c.474C>G (p.Tyr158Ter)	FAM135A (Y158* +3 more)	Single nucleotide variant (nonsense +1 more)	Histiocytoid cardiomyopathy	GLikely benign
Select item 190302	NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter)	NDUFB11 (R88*)	Single nucleotide variant (nonsense)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GPathogenic
Select item 9684	NC_012920.1(MT-CYB):m.15498G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9640	NC_012920.1(MT-ATP8):m.8528T>C	MT-ATP6, MT-ATP8	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database

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