C5436682[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 449007	NM_001303.4(COX10):c.311C>T (p.Pro104Leu)	COX10 (P104L)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1030367	NM_001303.4(COX10):c.394G>T (p.Asp132Tyr)	COX10 (D132Y)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 2582413	NM_001303.4(COX10):c.620del (p.Asn207fs)	COX10 (N207fs)	Deletion (frameshift variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GLikely pathogenic
Select item 377357	NM_001303.4(COX10):c.1027T>C (p.Cys343Arg)	COX10 (C343R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1031965	NM_001303.4(COX10):c.1186G>A (p.Gly396Ser)	COX10 (G396S)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GUncertain significance
Select item 1031966	NM_001303.4(COX10):c.1192C>T (p.Arg398Cys)	COX10 (R398C)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 2582510	NM_001303.4(COX10):c.1262T>C (p.Leu421Pro)	COX10 (L421P)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GUncertain significance

ClinVar