CNST[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 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	LOC129932493, LOC129932494 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932930, LOC129932931 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932702, LOC129932703 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	ABCB10, ACBD3 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC129932675, LOC129932676 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	ADSS2, AGT +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	ABCB10, ACBD3 +949 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	ABCB10, ACBD3 +869 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	OR2T27, OR2T29 +655 more	Copy number gain	See cases	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	LOC129932908, LOC129932909 +270 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +301 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +282 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	ADSS2, AHCTF1 +276 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +276 more	Copy number loss	See cases	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	SNORA100, SPMIP3 +274 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	LOC128598893, LOC128598894 +273 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	LOC122152349, LOC122152350 +272 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	OR11L1, OR13G1 +264 more	Copy number loss	See cases	GPathogenic
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +183 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	LOC129932970, LOC129932971 +253 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +243 more	Copy number loss	See cases	GPathogenic
Select item 2582786	GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1	ADSS2, AHCTF1 +118 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	ADSS2, AHCTF1 +237 more	Copy number gain	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	LOC122152355, LOC122152356 +230 more	Copy number gain	See cases	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	LINC01743, LINC02774 +235 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	ADSS2, AHCTF1 +226 more	Copy number loss	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	OR2L2, OR2L3 +202 more	Copy number loss	See cases	GPathogenic
Select item 144382	GRCh38/hg38 1q44(chr1:245312815-248918469)x3	AHCTF1, CNST +168 more	Copy number gain	See cases	GPathogenic
Select item 148609	GRCh38/hg38 1q44(chr1:245805927-246647918)x3	CNST, LINC01743 +25 more	Copy number gain	See cases	GUncertain significance
Select item 151433	GRCh38/hg38 1q44(chr1:245952736-246624559)x3	CNST, LINC01743 +20 more	Copy number gain	See cases	GUncertain significance
Select item 153842	GRCh38/hg38 1q44(chr1:245963305-246590116)x3	CNST, LINC01743 +20 more	Copy number gain	See cases	GUncertain significance
Select item 154428	GRCh38/hg38 1q44(chr1:245979870-246615151)x3	CNST, LINC01743 +20 more	Copy number gain	See cases	GLikely benign
Select item 57850	GRCh38/hg38 1q44(chr1:246031245-247245758)x3	AHCTF1, CNST +59 more	Copy number gain	See cases	GUncertain significance
Select item 151310	GRCh38/hg38 1q44(chr1:246202303-246759911)x3	CNST, LINC01743 +21 more	Copy number gain	See cases	GLikely benign
Select item 2333615	NM_152609.3(CNST):c.39A>G (p.Ile13Met)	CNST (I13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146679	NM_152609.3(CNST):c.98C>T (p.Pro33Leu)	CNST (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494966	NM_152609.3(CNST):c.128T>C (p.Leu43Pro)	CNST (L43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146677	NM_152609.3(CNST):c.230T>G (p.Leu77Trp)	CNST (L77W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304729	NM_152609.3(CNST):c.267C>A (p.Asn89Lys)	CNST (N89K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529971	NM_152609.3(CNST):c.367A>C (p.Lys123Gln)	CNST (K123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222028	NM_152609.3(CNST):c.400G>C (p.Ala134Pro)	CNST (A134P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391838	NM_152609.3(CNST):c.410T>G (p.Met137Arg)	CNST (M137R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384847	NM_152609.3(CNST):c.430G>A (p.Ala144Thr)	CNST (A144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484313	NM_152609.3(CNST):c.445G>A (p.Val149Ile)	CNST (V149I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365976	NM_152609.3(CNST):c.482A>T (p.Glu161Val)	CNST (E161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495041	NM_152609.3(CNST):c.503T>C (p.Leu168Pro)	CNST (L168P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367587	NM_152609.3(CNST):c.650G>A (p.Arg217Gln)	CNST (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616354	NM_152609.3(CNST):c.656A>G (p.Tyr219Cys)	CNST (Y219C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456636	NM_152609.3(CNST):c.739A>T (p.Thr247Ser)	CNST, LOC126806084 (T247S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266597	NM_152609.3(CNST):c.850G>A (p.Val284Met)	CNST (V284M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225681	NM_152609.3(CNST):c.885G>C (p.Gln295His)	CNST (Q295H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542843	NM_152609.3(CNST):c.917G>A (p.Gly306Glu)	CNST (G306E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473112	NM_152609.3(CNST):c.931G>C (p.Glu311Gln)	CNST (E311Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252523	NM_152609.3(CNST):c.938A>G (p.Glu313Gly)	CNST, LOC126806085 (E313G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276875	NM_152609.3(CNST):c.956G>T (p.Gly319Val)	CNST, LOC126806085 (G319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146678	NM_152609.3(CNST):c.983A>G (p.His328Arg)	CNST, LOC126806085 (H328R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146670	NM_152609.3(CNST):c.1013G>A (p.Cys338Tyr)	CNST, LOC126806085 (C338Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591173	NM_152609.3(CNST):c.1109C>G (p.Thr370Arg)	CNST, LOC126806085 (T370R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146671	NM_152609.3(CNST):c.1151C>G (p.Pro384Arg)	CNST, LOC126806085 (P384R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146672	NM_152609.3(CNST):c.1166C>T (p.Ser389Phe)	CNST, LOC126806085 (S389F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277896	NM_152609.3(CNST):c.1207G>T (p.Ala403Ser)	CNST, LOC126806085 (A403S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352511	NM_152609.3(CNST):c.1321C>T (p.Arg441Cys)	CNST, LOC126806085 (R441C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392924	NM_152609.3(CNST):c.1322G>A (p.Arg441His)	CNST, LOC126806085 (R441H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146673	NM_152609.3(CNST):c.1510G>C (p.Asp504His)	CNST, LOC126806085 (D504H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545077	NM_152609.3(CNST):c.1513G>T (p.Gly505Cys)	CNST, LOC126806085 (G505C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263973	NM_152609.3(CNST):c.1534G>A (p.Gly512Arg)	CNST, LOC126806085 (G512R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209720	NM_152609.3(CNST):c.1598A>G (p.Lys533Arg)	CNST, LOC126806085 (K533R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337314	NM_152609.3(CNST):c.1622A>T (p.Asn541Ile)	CNST, LOC126806085 (N541I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360185	NM_152609.3(CNST):c.1705C>A (p.Gln569Lys)	CNST, LOC126806085 (Q569K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146674	NM_152609.3(CNST):c.1757A>G (p.Tyr586Cys)	CNST, LOC126806085 (Y586C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357115	NM_152609.3(CNST):c.1820G>A (p.Arg607Lys)	CNST, LOC126806085 (R607K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216383	NM_152609.3(CNST):c.1904C>T (p.Ala635Val)	CNST (A635V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469218	NM_152609.3(CNST):c.2057A>G (p.Tyr686Cys)	CNST (Y686C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382931	NM_152609.3(CNST):c.2106C>A (p.Asp702Glu)	CNST (D702E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146675	NM_152609.3(CNST):c.2111T>C (p.Met704Thr)	CNST (M704T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146676	NM_152609.3(CNST):c.2139G>T (p.Gln713His)	CNST (Q713H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148935	GRCh37/hg19 1q44(chr1:246765135-249224684)x1	AHCTF1, CNST +55 more	Copy number loss	not provided	GUncertain significance
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685846	GRCh37/hg19 1q44(chr1:246815052-247133893)x3	AHCTF1, CNST +2 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 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	CNST, GCSAML +58 more	Copy number loss	not provided	GPathogenic
Select item 1809601	Single allele	ADSS2, AHCTF1 +72 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809444	GRCh37/hg19 1q44(chr1:246824177-247080322)x3	AHCTF1, CNST +1 more	Copy number gain	not provided	GUncertain significance
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 1808320	GRCh37/hg19 1q44(chr1:246606995-246890533)x3	CNST, SCCPDH +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807822	GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3	ADSS2, AHCTF1 +69 more	Copy number gain	not provided	GPathogenic
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	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1328437	GRCh37/hg19 1q44(chr1:246820858-249213969)x3	AHCTF1, CNST +55 more	Copy number gain	not provided	GUncertain significance
Select item 1047876	GRCh37/hg19 1q43-44(chr1:240554955-247342593)	AHCTF1, AKT3 +31 more	Copy number loss	Cerebellar vermis hypoplasia +5 more	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance

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