ClinVar for MedGen (Select 1760275) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2446887	NM_198076.6(COX20):c.42+1G>A	COX20, LOC129932912	Single nucleotide variant (splice donor variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 11	GPathogenic
Select item 1705158	NM_198076.6(COX20):c.185dup (p.Val63fs)	COX20, HNRNPU-AS1 (E61fs +3 more)	Duplication (frameshift variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 11	GLikely pathogenic
Select item 1649891	NM_198076.6(COX20):c.24T>C (p.Gly8=)	COX20, LOC129932912	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1516412	NM_198076.6(COX20):c.269T>C (p.Ile90Thr)	COX20 (I102T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
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
Select item 1386919	NM_198076.6(COX20):c.301T>C (p.Tyr101His)	COX20 (Y101H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +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 1339433	NM_198076.6(COX20):c.259C>T (p.Gln87Ter)	COX20 (Q42* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 1339432	NM_198076.6(COX20):c.157+7A>G	COX20	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 11	GPathogenic
Select item 1339431	NM_198076.6(COX20):c.98C>T (p.Ser33Leu)	COX20 (S45L)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11	GPathogenic
Select item 1339430	NM_198076.6(COX20):c.222G>T (p.Trp74Cys)	COX20 (W29C +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11	GPathogenic
Select item 1320208	NM_198076.6(COX20):c.2T>C (p.Met1Thr)	COX20 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 798926	NM_198076.6(COX20):c.115T>C (p.Leu39=)	COX20	Single nucleotide variant (synonymous variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GLikely benign
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 383938	NM_198076.6(COX20):c.41A>G (p.Lys14Arg)	COX20, LOC129932912 (K14R)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +3 more	GPathogenic
Select item 382376	NM_198076.6(COX20):c.222-3A>C	COX20	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 214274	NM_198076.6(COX20):c.319G>A (p.Asp107Asn)	COX20 (D107N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
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 214270	NM_198076.6(COX20):c.91C>T (p.Arg31Trp)	COX20 (R31W +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial disease +2 more	GUncertain significance
Select item 214269	NM_198076.6(COX20):c.7G>T (p.Ala3Ser)	COX20 (A3S)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +2 more	GBenign/Likely benign
Select item 55889	NM_198076.6(COX20):c.154A>C (p.Thr52Pro)	COX20, HNRNPU-AS1 (T52P +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11	GPathogenic

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Items: 22