"Fulgent Genetics, Fulgent Genetics"[submitter] AND "COX20"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214269	NM_198076.6(COX20):c.7G>T (p.Ala3Ser)	COX20 (A3S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1649891	NM_198076.6(COX20):c.24T>C (p.Gly8=)	COX20, LOC129932912	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GLikely benign
Select item 798926	NM_198076.6(COX20):c.115T>C (p.Leu39=)	HNRNPU-AS1, COX20	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GLikely benign
Select item 380082	NM_198076.6(COX20):c.157+3G>C	COX20	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GPathogenic/Likely pathogenic
Select item 214272	NM_198076.6(COX20):c.205G>A (p.Val69Met)	COX20 (V69M +2 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GUncertain significance
Select item 382376	NM_198076.6(COX20):c.222-3A>C	COX20	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1516412	NM_198076.6(COX20):c.269T>C (p.Ile90Thr)	COX20 (I102T +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GUncertain significance
Select item 1386919	NM_198076.6(COX20):c.301T>C (p.Tyr101His)	COX20 (Y101H +2 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GUncertain significance
Select item 214274	NM_198076.6(COX20):c.319G>A (p.Asp107Asn)	COX20, HNRNPU-AS1 (D107N +2 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GUncertain significance
Select item 1346132	NM_198076.6(COX20):c.334C>T (p.His112Tyr)	COX20 (H112Y +2 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GUncertain significance
Select item 383939	NM_198076.6(COX20):c.340G>A (p.Gly114Ser)	COX20 (G114S +2 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +3 more	GConflicting classifications of pathogenicity
Select item 1491579	NM_198076.6(COX20):c.343A>G (p.Ser115Gly)	COX20 (S127G +2 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GUncertain significance