Related gene-specific medical variations for Gene (Select 4705) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359400	NM_004544.4(NDUFA10):c.539G>A (p.Arg180Gln)	NDUFA10 (R180Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3068039	NM_004544.4(NDUFA10):c.844C>T (p.Pro282Ser)	NDUFA10 (P282S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 22	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 2434080	NM_004544.4(NDUFA10):c.1025_1026insATGG (p.Tyr343fs)	NDUFA10 (G306fs +1 more)	Insertion (frameshift variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 22	GUncertain significance
Select item 1801470	NC_000002.12:g.239925792_239928083del	NDUFA10	Deletion (genic downstream transcript variant)	Schizophrenia	GUncertain significance
Select item 1801460	NC_000002.12:g.239921648_239921688del	NDUFA10	Deletion (genic downstream transcript variant)	Schizophrenia	GUncertain significance
Select item 1342399	NM_004544.4(NDUFA10):c.590A>G (p.Asp197Gly)	NDUFA10 (D197G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 1 deficiency, nuclear type 22	GUncertain significance
Select item 395172	GRCh37/hg19 2q37.3(chr2:240894562-240931828)x1	NDUFA10	Copy number loss	See cases	GLikely benign

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