ClinVar for Gene (Select 1340) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2892055	NM_001863.5(COX6B1):c.126G>A (p.Lys42=)	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 2697747	NM_001863.5(COX6B1):c.106+13T>C	COX6B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FFAR3, FXYD1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
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 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 2077975	NM_001863.5(COX6B1):c.60C>T (p.Arg20=)	COX6B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2037384	NM_001863.5(COX6B1):c.235G>A (p.Glu79Lys)	COX6B1 (E79K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019200	NM_001863.5(COX6B1):c.208-9T>C	COX6B1	Single nucleotide variant (intron 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 1957515	NM_001863.5(COX6B1):c.230G>T (p.Arg77Leu)	COX6B1 (R77L)	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 1946817	NM_001863.5(COX6B1):c.18G>C (p.Glu6Asp)	COX6B1 (E6D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1937040	NM_001863.5(COX6B1):c.159G>T (p.Val53=)	COX6B1	Single nucleotide variant (synonymous 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 1915059	NM_001863.5(COX6B1):c.207+19G>A	COX6B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1900292	NM_001863.5(COX6B1):c.207+17A>C	COX6B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1623606	NM_001863.5(COX6B1):c.106+11C>T	COX6B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	PSENEN, RBM42 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1392701	NM_001863.5(COX6B1):c.200C>T (p.Thr67Ile)	COX6B1 (T67I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1383648	NM_001863.5(COX6B1):c.250G>A (p.Gly84Arg)	COX6B1 (G84R)	Single nucleotide variant (missense variant)	not provided +1 more	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 1356406	NM_001863.5(COX6B1):c.157G>A (p.Val53Met)	COX6B1 (V53M)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 7 +1 more	GUncertain significance
Select item 1340392	GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3	ALKBH6, APLP1 +28 more	Copy number gain	not provided	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
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
Select item 1298032	NM_001863.5(COX6B1):c.107-45G>A	COX6B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273928	NM_001863.5(COX6B1):c.208-46C>T	COX6B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238210	NC_000019.10:g.35658859A>G	COX6B1	Single nucleotide variant	not provided	GBenign
Select item 1225755	NM_001863.5(COX6B1):c.106+14T>C	COX6B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225325	NM_001863.5(COX6B1):c.107-194T>C	COX6B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191198	NC_000019.10:g.35658918del	COX6B1	Deletion	not provided	GLikely benign
Select item 1187385	NM_001863.5(COX6B1):c.107-49del	COX6B1	Deletion (intron variant)	not provided	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 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 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 889431	NM_001863.5(COX6B1):c.-42G>A	COX6B1, LOC130064250	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 729622	NM_001863.5(COX6B1):c.6G>A (p.Ala2=)	COX6B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 685279	GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1	ATP4A, CD22 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 676113	NM_001863.5(COX6B1):c.106+45G>A	COX6B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 509612	NM_001863.5(COX6B1):c.243G>A (p.Thr81=)	COX6B1	Single nucleotide variant (synonymous variant)	not specified +2 more	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 507940	NM_001863.5(COX6B1):c.-36C>G	COX6B1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 507939	NM_001863.5(COX6B1):c.249C>T (p.Pro83=)	COX6B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442794	GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1	ALKBH6, APLP1 +39 more	Copy number loss	See cases	GUncertain significance
Select item 377750	NM_001863.5(COX6B1):c.107-16A>G	COX6B1	Single nucleotide variant (intron variant)	Mitochondrial complex 4 deficiency, nuclear type 7 +2 more	GBenign/Likely benign
Select item 328839	NM_001863.5(COX6B1):c.-47A>G	COX6B1, LOC130064250	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
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 328837	NM_001863.4(COX6B1):c.-145G>A	COX6B1	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
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 214276	NM_001863.5(COX6B1):c.247C>T (p.Pro83Ser)	COX6B1 (P83S)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GUncertain significance
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 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 137022	NM_001863.5(COX6B1):c.42C>T (p.Thr14=)	COX6B1	Single nucleotide variant (synonymous variant)	COX6B1-related disorder +3 more	GBenign
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 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

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Links from Gene

Items: 71