ClinVar for Gene (Select 163882) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148935	GRCh37/hg19 1q44(chr1:246765135-249224684)x1	AHCTF1, CNST +55 more	Copy number loss	not provided	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 3146678	NM_152609.3(CNST):c.983A>G (p.His328Arg)	CNST, LOC126806085 (H328R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3146676	NM_152609.3(CNST):c.2139G>T (p.Gln713His)	CNST (Q713H)	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 3146674	NM_152609.3(CNST):c.1757A>G (p.Tyr586Cys)	CNST, LOC126806085 (Y586C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3146672	NM_152609.3(CNST):c.1166C>T (p.Ser389Phe)	CNST, LOC126806085 (S389F)	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 3146670	NM_152609.3(CNST):c.1013G>A (p.Cys338Tyr)	CNST, LOC126806085 (C338Y)	Single nucleotide variant (missense variant)	not specified	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 2616354	NM_152609.3(CNST):c.656A>G (p.Tyr219Cys)	CNST (Y219C)	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 2582786	GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1	ADSS2, AHCTF1 +118 more	Copy number loss	Intellectual disability, autosomal dominant 22	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 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 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	LINC01743, LINC02774 +235 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
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 2542843	NM_152609.3(CNST):c.917G>A (p.Gly306Glu)	CNST (G306E)	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 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	CNST, GCSAML +58 more	Copy number loss	not provided	GPathogenic
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 2494966	NM_152609.3(CNST):c.128T>C (p.Leu43Pro)	CNST (L43P)	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 2473112	NM_152609.3(CNST):c.931G>C (p.Glu311Gln)	CNST (E311Q)	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 2456636	NM_152609.3(CNST):c.739A>T (p.Thr247Ser)	CNST, LOC126806084 (T247S)	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 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 2382931	NM_152609.3(CNST):c.2106C>A (p.Asp702Glu)	CNST (D702E)	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 2365976	NM_152609.3(CNST):c.482A>T (p.Glu161Val)	CNST (E161V)	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 2357115	NM_152609.3(CNST):c.1820G>A (p.Arg607Lys)	CNST, LOC126806085 (R607K)	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 2337314	NM_152609.3(CNST):c.1622A>T (p.Asn541Ile)	CNST, LOC126806085 (N541I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2304729	NM_152609.3(CNST):c.267C>A (p.Asn89Lys)	CNST (N89K)	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 2276875	NM_152609.3(CNST):c.956G>T (p.Gly319Val)	CNST, LOC126806085 (G319V)	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 2263973	NM_152609.3(CNST):c.1534G>A (p.Gly512Arg)	CNST, LOC126806085 (G512R)	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 2225681	NM_152609.3(CNST):c.885G>C (p.Gln295His)	CNST (Q295H)	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 2216383	NM_152609.3(CNST):c.1904C>T (p.Ala635Val)	CNST (A635V)	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 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
Select item 980428	GRCh37/hg19 1q44(chr1:246826117-247232960)x3	SCCPDH, ZNF695 +3 more	Copy number gain	not provided	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814203	GRCh37/hg19 1q44(chr1:246823634-247080322)x3	AHCTF1, CNST +1 more	Copy number gain	not provided	GUncertain significance
Select item 814201	GRCh37/hg19 1q44(chr1:246382096-247018065)x3	SMYD3, TFB2M +3 more	Copy number gain	not provided	GLikely benign
Select item 814196	GRCh37/hg19 1q44(chr1:244546830-246826108)x3	CATSPERE, CNST +9 more	Copy number gain	not provided	GUncertain significance
Select item 689213	GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3	VN1R5, WDR64 +81 more	Copy number gain	not provided	GPathogenic
Select item 687714	GRCh37/hg19 1q44(chr1:246120514-246787861)x3	CNST, SMYD3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687454	GRCh37/hg19 1q44(chr1:246565044-249224684)x1	AHCTF1, CNST +57 more	Copy number loss	not provided	GPathogenic
Select item 686345	GRCh37/hg19 1q44(chr1:246614239-247022715)x3	AHCTF1, CNST +3 more	Copy number gain	not provided	GUncertain significance
Select item 686163	GRCh37/hg19 1q44(chr1:246821058-247265403)x3	AHCTF1, CNST +4 more	Copy number gain	not provided	GUncertain significance
Select item 685512	GRCh37/hg19 1q44(chr1:246124606-246942029)x1	CNST, SCCPDH +2 more	Copy number loss	not provided	GUncertain significance
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	not provided	GPathogenic
Select item 685153	GRCh37/hg19 1q44(chr1:244379481-249224684)x1	ADSS2, AHCTF1 +65 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 625535	GRCh37/hg19 1q44(chr1:245341153-249212429)	AHCTF1, CNST +58 more	Copy number loss	not provided	GLikely pathogenic
Select item 565256	GRCh37/hg19 1q44(chr1:246708791-247417037)x3	CNST, AHCTF1 +7 more	Copy number gain	not provided	GLikely benign
Select item 565254	GRCh37/hg19 1q44(chr1:246060750-246810088)x3	TFB2M, SMYD3 +1 more	Copy number gain	not provided	GLikely benign
Select item 565250	GRCh37/hg19 1q44(chr1:244797639-249224684)x1	AHCTF1, CATSPERE +63 more	Copy number loss	not provided	GPathogenic
Select item 565241	GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	ADSS2, AHCTF1 +78 more	Copy number loss	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 561259	46,XX,der(1)(q44,q44).seq[GRCh37/hg19]der(1)(1pter->1q44(+)(244867200)::TCGCC{5}::q44(-)(246816211),q44(-)(2460642{39-40})::CGG...CCC{49}::q44(+)(246569872)->1qter)	COX20, SMYD3 +6 more	Complex	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 446337	GRCh37/hg19 1q44(chr1:245950642-246823857)x1	CNST, SMYD3 +1 more	Copy number loss	See cases	GUncertain significance
Select item 443769	GRCh37/hg19 1q44(chr1:246060750-246802095)x3	CNST, SMYD3 +1 more	Copy number gain	See cases	GUncertain significance
Select item 443669	GRCh37/hg19 1q44(chr1:246176964-246744498)x4	CNST, SMYD3 +1 more	Copy number gain	See cases	GUncertain significance
Select item 443568	GRCh37/hg19 1q44(chr1:246753355-249224684)x3	AHCTF1, CNST +55 more	Copy number gain	See cases	GUncertain significance
Select item 443567	GRCh37/hg19 1q44(chr1:246594705-247245220)x3	AHCTF1, CNST +5 more	Copy number gain	See cases	GUncertain significance
Select item 443102	GRCh37/hg19 1q44(chr1:244197791-249224684)x4	ADSS2, AHCTF1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 442983	GRCh37/hg19 1q44(chr1:244281222-247789907)x3	ADSS2, AHCTF1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 442726	GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1	ADSS2, AHCTF1 +35 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441937	GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1	ACTN2, ADSS2 +94 more	Copy number loss	See cases	GPathogenic
Select item 441889	GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4	ADSS2, AHCTF1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 441065	GRCh37/hg19 1q44(chr1:246678242-246797859)x3	CNST, SMYD3 +1 more	Copy number gain	not provided	Gnot provided

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