ClinVar for Gene (Select 116228) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372291	NM_198076.6(COX20):c.188_190del (p.Val63del)	COX20 (:62del +3 more)	Deletion (stop lost +1 more)	not provided	GUncertain significance
Select item 3343177	NM_198076.6(COX20):c.296TAT[1] (p.Leu100del)	COX20 (L100del +2 more)	Microsatellite (inframe_deletion +2 more)	not provided	GLikely pathogenic
Select item 3253297	NM_198076.6(COX20):c.166AGA[1] (p.Arg57del)	COX20 (E55del +3 more)	Microsatellite (inframe_deletion +1 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 3248036	NC_000001.10:g.(?_241661128)_(245027609_?)del	ADSS2, AKT3 +16 more	Deletion	not provided	GUncertain significance
Select item 3247852	NC_000001.10:g.(?_244999017)_(245020178_?)dup	COX20, HNRNPU	Duplication	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 3247849	NC_000001.10:g.(?_243668551)_(245027609_?)del	ADSS2, AKT3 +6 more	Deletion	Developmental and epileptic encephalopathy, 54	GPathogenic
Select item 3247844	NC_000001.10:g.(?_241661128)_(245027609_?)dup	ADSS2, AKT3 +16 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GUncertain significance
Select item 3242282	GRCh37/hg19 1q43-44(chr1:243364757-245372332)x1	ADSS2, AKT3 +10 more	Copy number loss	not provided	GPathogenic
Select item 3063488	GRCh37/hg19 1q43-44(chr1:243453390-245467768)x1	ADSS2, AKT3 +9 more	Copy number loss	not specified	GPathogenic
Select item 3063232	GRCh37/hg19 1q44(chr1:245007762-245037711)x1	COX20, HNRNPU	Copy number loss	not specified	GPathogenic
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062700	GRCh37/hg19 1q44(chr1:244579324-246515944)x1	ADSS2, CATSPERE +6 more	Copy number loss	not specified	GPathogenic
Select item 2993986	NM_198076.6(COX20):c.221+9G>A	COX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960757	NM_198076.6(COX20):c.222-16A>G	COX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894285	NM_198076.6(COX20):c.162A>G (p.Arg54=)	COX20 (K53R)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2792580	NM_198076.6(COX20):c.174A>C (p.Ser58=)	COX20 (H57P)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2685844	GRCh37/hg19 1q44(chr1:244797640-245282349)x3	CATSPERE, COX20 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2636873	NM_198076.6(COX20):c.157+6dup	COX20	Duplication (intron variant)	COX20-related disorder	GUncertain significance
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 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	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 2579277	GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1	ADSS2, AKT3 +73 more	Copy number loss	Intellectual disability, autosomal dominant 22	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 2537913	NM_198076.6(COX20):c.323C>T (p.Pro108Leu)	COX20 (P63L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2504981	NM_198076.6(COX20):c.194G>A (p.Gly65Glu)	COX20, HNRNPU-AS1 (G20E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 2430836	NM_198076.6(COX20):c.268A>T (p.Ile90Phe)	COX20, HNRNPU-AS1 (I102F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2427637	NC_000001.10:g.(?_245005226)_(245006478_?)del	COX20	Deletion	not provided	GUncertain significance
Select item 2421254	NM_198076.6(COX20):c.175T>C (p.Cys59Arg)	COX20 (C14R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2191163	NM_198076.6(COX20):c.298T>G (p.Leu100Val)	COX20 (L112V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2185914	NM_198076.6(COX20):c.319G>T (p.Asp107Tyr)	COX20 (D107Y +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2168861	NM_198076.6(COX20):c.312C>T (p.Thr104=)	COX20	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2134100	NM_198076.6(COX20):c.157+19T>C	COX20	Single nucleotide variant (intron variant)	not provided	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 2124588	NM_198076.6(COX20):c.42+11G>C	COX20, LOC129932912	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2122014	NM_198076.6(COX20):c.222G>A (p.Trp74Ter)	COX20 (W86* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
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 2112929	NM_198076.6(COX20):c.310A>G (p.Thr104Ala)	COX20 (T116A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2081962	NM_198076.6(COX20):c.299T>C (p.Leu100Ser)	COX20 (L112S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2058017	NM_198076.6(COX20):c.88G>A (p.Ala30Thr)	COX20 (A30T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2030976	NM_198076.6(COX20):c.158-5del	COX20	Deletion (intron variant)	not provided	GBenign
Select item 2013558	NM_198076.6(COX20):c.283A>T (p.Ile95Phe)	COX20 (I50F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2007051	NM_198076.6(COX20):c.262del (p.Glu88fs)	COX20 (E100fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1987838	NM_198076.6(COX20):c.158-5T>G	COX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1979139	NM_198076.6(COX20):c.43-4del	COX20	Deletion (intron variant)	not provided	GUncertain significance
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 1968455	NM_198076.6(COX20):c.61T>C (p.Phe21Leu)	COX20 (F21L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 1950589	NM_198076.6(COX20):c.43-11T>C	COX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1947337	NM_198076.6(COX20):c.221+20A>C	COX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1942531	NM_198076.6(COX20):c.6C>T (p.Ala2=)	COX20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1935605	NM_198076.6(COX20):c.322C>T (p.Pro108Ser)	COX20 (P108S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1934225	NM_198076.6(COX20):c.203T>G (p.Leu68Trp)	COX20 (L80W +2 more)	Single nucleotide variant (missense variant +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 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 1918380	NM_198076.6(COX20):c.43-17_43-15del	COX20	Deletion (intron variant)	not provided	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 1916863	NM_198076.6(COX20):c.42+15G>A	COX20, LOC129932912	Single nucleotide variant (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 1909987	NM_198076.6(COX20):c.319G>C (p.Asp107His)	COX20 (D62H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1903190	NM_198076.6(COX20):c.158-17T>C	COX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898390	NM_198076.6(COX20):c.42+8G>A	COX20, LOC129932912	Single nucleotide variant (intron variant)	not provided	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 1809602	Single allele	ADSS2, C1orf100 +8 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809601	Single allele	ADSS2, AHCTF1 +72 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1808697	GRCh37/hg19 1q43-44(chr1:243085543-247137125)x3	ADSS2, AHCTF1 +16 more	Copy number gain	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1807822	GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3	ADSS2, AHCTF1 +69 more	Copy number gain	not provided	GPathogenic
Select item 1807770	GRCh37/hg19 1q44(chr1:244960357-245040680)x1	COX20, HNRNPU	Copy number loss	not provided	GPathogenic
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 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	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 1704931	NM_198076.6(COX20):c.42+156dup	COX20, LOC129932912	Duplication (intron variant)	not provided	GLikely benign
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 1644480	NM_198076.6(COX20):c.157+17T>C	COX20	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1644151	NM_198076.6(COX20):c.9C>T (p.Ala3=)	COX20, LOC129932912	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1575125	NM_198076.6(COX20):c.158-15T>C	COX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1536468	NM_198076.6(COX20):c.157+20A>C	COX20	Single nucleotide variant (intron variant)	not provided	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 1515041	NM_198076.6(COX20):c.42+5C>T	COX20, LOC129932912	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1498702	NC_000001.10:g.(?_243303219)_(245027609_?)dup	ADSS2, AKT3 +8 more	Duplication	not provided	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 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 1411796	NM_198076.6(COX20):c.230G>T (p.Cys77Phe)	COX20 (C77F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 1325914	NM_198076.6(COX20):c.157+49T>C	COX20	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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