COX20[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	KMO, LINC01341 +274 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +265 more	Copy number loss	See cases	GPathogenic
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +184 more	Copy number loss	See cases	GPathogenic
Select item 147285	GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3	ADSS2, AKT3 +87 more	Copy number gain	See cases	GPathogenic
Select item 60153	GRCh38/hg38 1q43-44(chr1:241676908-245647727)x1	ADSS2, AKT3 +87 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	OR2T34, OR2T35 +254 more	Copy number loss	See cases	GPathogenic
Select item 149180	GRCh38/hg38 1q43-44(chr1:241967139-245542967)x3	ADSS2, AKT3 +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +244 more	Copy number loss	See cases	GPathogenic
Select item 2579277	GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1	ADSS2, AKT3 +73 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 60156	GRCh38/hg38 1q43-44(chr1:242240797-245200164)x1	ADSS2, AKT3 +70 more	Copy number loss	See cases	GPathogenic
Select item 60157	GRCh38/hg38 1q43-44(chr1:242410569-245413313)x1	ADSS2, AKT3 +73 more	Copy number loss	See cases	GPathogenic
Select item 2582786	GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1	LOC126806079, LOC126806080 +119 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 151741	GRCh38/hg38 1q43-44(chr1:242782194-245138126)x3	ADSS2, AKT3 +65 more	Copy number gain	See cases	GUncertain significance
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	TFB2M, TRE-CTC2-1 +238 more	Copy number gain	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +231 more	Copy number gain	See cases	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	TRIM58, TRL-CAA4-1 +236 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 60158	GRCh38/hg38 1q43-44(chr1:243225391-245289313)x1	ADSS2, AKT3 +66 more	Copy number loss	See cases	GPathogenic
Select item 57260	GRCh38/hg38 1q44(chr1:243677224-244923447)x1	ADSS2, AKT3 +44 more	Copy number loss	See cases	GPathogenic
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	ADSS2, AHCTF1 +227 more	Copy number loss	See cases	GPathogenic
Select item 60188	GRCh38/hg38 1q44(chr1:244222222-245502219)x1	ADSS2, C1orf202 +47 more	Copy number loss	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +203 more	Copy number loss	See cases	GPathogenic
Select item 60192	GRCh38/hg38 1q44(chr1:244692061-245647727)x1	C1orf202, COX20 +31 more	Copy number loss	See cases	GPathogenic
Select item 1204426	NC_000001.11:g.244835051C>T	COX20	Single nucleotide variant	not provided	GLikely benign
Select item 1225828	NM_198076.5(COX20):c.-265C>T	COX20, LOC129932910	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281824	NM_198076.5(COX20):c.-132_-130GGC[1]	COX20	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 383480	NM_198076.6(COX20):c.-39C>G	COX20, LOC129932911	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 389196	NM_198076.6(COX20):c.-38C>T	LOC129932911, COX20	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 379647	NM_198076.6(COX20):c.-10A>T	COX20	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1320208	NM_198076.6(COX20):c.2T>C (p.Met1Thr)	COX20 (M1T)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex 4 deficiency, nuclear type 11 +1 more	GUncertain significance
Select item 1942531	NM_198076.6(COX20):c.6C>T (p.Ala2=)	COX20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1921674	NM_198076.6(COX20):c.7G>A (p.Ala3Thr)	COX20 (A3T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1969731	NM_198076.6(COX20):c.9C>G (p.Ala3=)	COX20, LOC129932912	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1644151	NM_198076.6(COX20):c.9C>T (p.Ala3=)	COX20, LOC129932912	Single nucleotide variant (synonymous variant +1 more)	COX20-related disorder +1 more	GLikely benign
Select item 591995	NM_198076.6(COX20):c.19_33dup (p.Pro7_Glu11dup)	COX20, LOC129932912	Duplication (inframe_insertion +2 more)	not provided	GUncertain significance
Select item 1924682	NM_198076.6(COX20):c.18G>A (p.Glu6=)	COX20, LOC129932912	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1472963	NM_198076.6(COX20):c.22G>A (p.Gly8Ser)	COX20, LOC129932912 (G8S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1916992	NM_198076.6(COX20):c.25G>A (p.Glu9Lys)	COX20, LOC129932912 (E9K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 509566	NM_198076.6(COX20):c.30C>G (p.Pro10=)	COX20, LOC129932912	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 1895670	NM_198076.6(COX20):c.31G>A (p.Glu11Lys)	COX20, LOC129932912 (E11K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 383938	NM_198076.6(COX20):c.41A>G (p.Lys14Arg)	LOC129932912, COX20 (K14R)	Single nucleotide variant (missense variant +2 more)	COX20-related disorder +3 more	GPathogenic
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 1515041	NM_198076.6(COX20):c.42+5C>T	COX20, LOC129932912	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1898390	NM_198076.6(COX20):c.42+8G>A	COX20, LOC129932912	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137020	NM_198076.6(COX20):c.42+9G>A	COX20, LOC129932912	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2124588	NM_198076.6(COX20):c.42+11G>C	COX20, LOC129932912	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1916863	NM_198076.6(COX20):c.42+15G>A	COX20, LOC129932912	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1704931	NM_198076.6(COX20):c.42+156dup	COX20, LOC129932912	Duplication (intron variant)	not provided	GLikely benign
Select item 1298469	NM_198076.6(COX20):c.42+743G>C	COX20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 683598	NM_198076.6(COX20):c.43-161G>C	COX20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203374	NM_198076.6(COX20):c.43-124G>A	COX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1918380	NM_198076.6(COX20):c.43-17_43-15del	COX20	Deletion (intron variant)	not provided	GLikely benign
Select item 1913943	NM_198076.6(COX20):c.43-17C>T	COX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950589	NM_198076.6(COX20):c.43-11T>C	COX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1979139	NM_198076.6(COX20):c.43-4del	COX20, HNRNPU-AS1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1947107	NM_198076.6(COX20):c.57A>G (p.Leu19=)	COX20	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1968347	NM_198076.6(COX20):c.58G>A (p.Gly20Arg)	COX20 (G20R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1567488	NM_198076.6(COX20):c.60A>G (p.Gly20=)	COX20	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1968455	NM_198076.6(COX20):c.61T>C (p.Phe21Leu)	HNRNPU-AS1, COX20 (F21L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3252864	NM_198076.6(COX20):c.67G>A (p.Asp23Asn)	COX20 (D23N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 377749	NM_198076.6(COX20):c.87C>T (p.Cys29=)	COX20	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 2058017	NM_198076.6(COX20):c.88G>A (p.Ala30Thr)	HNRNPU-AS1, COX20 (A30T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 376926	NM_198076.6(COX20):c.92G>A (p.Arg31Gln)	COX20 (R31Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 1950465	NM_198076.6(COX20):c.93G>A (p.Arg31=)	COX20	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2116117	NM_198076.6(COX20):c.105G>T (p.Leu35Phe)	COX20 (L47F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1801139	NM_198076.6(COX20):c.107A>G (p.Tyr36Cys)	COX20, HNRNPU-AS1 (Y36C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 591984	NM_198076.6(COX20):c.109G>A (p.Gly37Ser)	COX20, HNRNPU-AS1 (G37S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2125953	NM_198076.6(COX20):c.127G>T (p.Val43Leu)	COX20 (V43L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2869869	NM_198076.6(COX20):c.135C>T (p.Gly45=)	COX20	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely 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
Select item 432104	NM_198076.6(COX20):c.157+1G>A	COX20, HNRNPU-AS1	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
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 2636873	NM_198076.6(COX20):c.157+6dup	COX20	Duplication (intron variant)	COX20-related disorder	GUncertain significance

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