COX6B1[gene] and "single gene"[properties] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 328837	NM_001863.4(COX6B1):c.-145G>A	COX6B1	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 328838	NM_001863.4(COX6B1):c.-133A>G	COX6B1	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 507940	NM_001863.5(COX6B1):c.-36C>G	COX6B1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1186690	NM_001863.5(COX6B1):c.-11-96A>G	COX6B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508010	NM_001863.5(COX6B1):c.-11-8G>A	COX6B1	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 7 +1 more	GLikely benign
Select item 2421700	NM_001863.5(COX6B1):c.1A>G (p.Met1Val)	COX6B1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 729622	NM_001863.5(COX6B1):c.6G>A (p.Ala2=)	COX6B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891041	NM_001863.5(COX6B1):c.13A>G (p.Met5Val)	COX6B1 (M5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072728	NM_001863.5(COX6B1):c.13A>C (p.Met5Leu)	COX6B1 (M5L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1946817	NM_001863.5(COX6B1):c.18G>C (p.Glu6Asp)	COX6B1 (E6D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137022	NM_001863.5(COX6B1):c.42C>T (p.Thr14=)	COX6B1	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GBenign
Select item 217745	NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys)	COX6B1 (R20C)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GLikely pathogenic
Select item 16875	NM_001863.5(COX6B1):c.59G>A (p.Arg20His)	COX6B1 (R20H)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 2077975	NM_001863.5(COX6B1):c.60C>T (p.Arg20=)	COX6B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3337966	NM_001863.5(COX6B1):c.91T>C (p.Trp31Arg)	COX6B1 (W31R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 889432	NM_001863.5(COX6B1):c.102C>T (p.Tyr34=)	COX6B1	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 1623606	NM_001863.5(COX6B1):c.106+11C>T	COX6B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697747	NM_001863.5(COX6B1):c.106+13T>C	COX6B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225755	NM_001863.5(COX6B1):c.106+14T>C	COX6B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676113	NM_001863.5(COX6B1):c.106+45G>A	COX6B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225325	NM_001863.5(COX6B1):c.107-194T>C	COX6B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187385	NM_001863.5(COX6B1):c.107-49del	COX6B1	Deletion (intron variant)	not provided	GLikely benign
Select item 1298032	NM_001863.5(COX6B1):c.107-45G>A	COX6B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 377750	NM_001863.5(COX6B1):c.107-16A>G	COX6B1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2892055	NM_001863.5(COX6B1):c.126G>A (p.Lys42=)	COX6B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2000184	NM_001863.5(COX6B1):c.130A>G (p.Met44Val)	COX6B1 (M44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950355	NM_001863.5(COX6B1):c.135C>T (p.Thr45=)	COX6B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214275	NM_001863.5(COX6B1):c.136G>A (p.Ala46Thr)	COX6B1 (A46T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1942638	NM_001863.5(COX6B1):c.148G>A (p.Asp50Asn)	COX6B1 (D50N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356406	NM_001863.5(COX6B1):c.157G>A (p.Val53Met)	COX6B1 (V53M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1937040	NM_001863.5(COX6B1):c.159G>T (p.Val53=)	COX6B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2362382	NM_001863.5(COX6B1):c.163G>A (p.Glu55Lys)	COX6B1 (E55K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1902873	NM_001863.5(COX6B1):c.179T>C (p.Val60Ala)	COX6B1 (V60A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1392701	NM_001863.5(COX6B1):c.200C>T (p.Thr67Ile)	COX6B1 (T67I)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 7 +2 more	GConflicting classifications of pathogenicity
Select item 1900292	NM_001863.5(COX6B1):c.207+17A>C	COX6B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1915059	NM_001863.5(COX6B1):c.207+19G>A	COX6B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930349	NM_001863.5(COX6B1):c.207+20G>A	COX6B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273928	NM_001863.5(COX6B1):c.208-46C>T	COX6B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2019200	NM_001863.5(COX6B1):c.208-9T>C	COX6B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 889433	NM_001863.5(COX6B1):c.212C>T (p.Thr71Ile)	COX6B1 (T71I)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 137021	NM_001863.5(COX6B1):c.228A>G (p.Gln76=)	COX6B1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1957515	NM_001863.5(COX6B1):c.230G>T (p.Arg77Leu)	COX6B1 (R77L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037384	NM_001863.5(COX6B1):c.235G>A (p.Glu79Lys)	COX6B1 (E79K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1370258	NM_001863.5(COX6B1):c.242C>T (p.Thr81Met)	COX6B1 (T81M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 509612	NM_001863.5(COX6B1):c.243G>A (p.Thr81=)	COX6B1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 214276	NM_001863.5(COX6B1):c.247C>T (p.Pro83Ser)	COX6B1 (P83S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 507939	NM_001863.5(COX6B1):c.249C>T (p.Pro83=)	COX6B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1383648	NM_001863.5(COX6B1):c.250G>A (p.Gly84Arg)	COX6B1 (G84R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1238210	NC_000019.10:g.35658859A>G	COX6B1	Single nucleotide variant	not provided	GBenign
Select item 1191198	NC_000019.10:g.35658918del	COX6B1	Deletion	not provided	GLikely benign
Select item 1320967	NC_000019.10:g.35658908T>A	COX6B1	Single nucleotide variant	not provided	GLikely benign
Select item 1316744	NC_000019.10:g.35658909T>A	COX6B1	Single nucleotide variant	not provided	GLikely benign

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Items: 52