"Baylor Genetics"[submitter] AND "NDUFA10"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032227	NM_004544.4(NDUFA10):c.1000-12358G>A	NDUFA10 (D373N)	Single nucleotide variant (missense variant +1 more)	Leigh syndrome	GUncertain significance
Select item 2671932	NM_004544.4(NDUFA10):c.1000-12367C>G	NDUFA10 (R370G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 22	GUncertain significance
Select item 2671953	NM_004544.4(NDUFA10):c.1000-12409C>G	NDUFA10 (R356G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 22	GUncertain significance
Select item 1400345	NM_004544.4(NDUFA10):c.976C>T (p.Arg326Cys)	NDUFA10 (R326C)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 1 deficiency, nuclear type 22 +2 more	GUncertain significance
Select item 625781	GRCh37/hg19 2q37.3(chr2:239071623-243048760)	TWIST2, ANKMY1 +43 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 625780	GRCh37/hg19 2q37.3(chr2:238795602-242918203)	SCLY, SEPTIN2 +48 more	Copy number loss	Chromosome 2q37 deletion syndrome	GLikely pathogenic
Select item 625779	GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)	OR6B2, PASK +56 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic

ClinVar