Unique variants in the ARX gene

Information The variants shown are described using the NM_139058.2 transcript reference sequence.

97 entries on 1 page. Showing entries 1 - 97.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/? 1 _1_2i c.(?_-211)_1073+?del r.del p.? - pathogenic g.(25028423_25031038)_(25034065_?)del - del ex1-2 - ARX_000012 not in >100 control chromosomes PubMed: Kitamura 2002, OMIM:var0010 - - Unknown yes - - - - Johan den Dunnen
?/. 1 _1_5_ c.(?_-1)_(*1_?)dup r.? p.? - VUS g.(24842239_24979128)_(25077579_25592381)dup - - - ARX_000022 - PubMed: Oshima 2009 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/+ 1 _1_5_ c.0 r.0 p.0 - pathogenic (recessive) g.(?_25020000)_(32235181_32305645)del - - - DMD_003417 deletion incl. ARX, IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial) PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown - - - - - Johan den Dunnen
?/. 1 - c.116G>C r.(?) p.(Cys39Ser) - VUS g.25033739C>G g.25015622C>G ARX(NM_139058.2):c.116G>C (p.(Cys39Ser)) - ARX_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.148T>C r.(?) p.(Leu50=) - likely benign g.25033707A>G g.25015590A>G ARX(NM_139058.3):c.148T>C (p.L50=) - ARX_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.169C>G r.(?) p.(Arg57Gly) - VUS g.25033686G>C - ARX(NM_139058.2):c.169C>G (p.(Arg57Gly)) - ARX_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.196+15G>A r.(=) p.(=) - benign g.25033644C>T g.25015527C>T ARX(NM_139058.2):c.196+15G>A - ARX_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.197-87G>T r.(=) p.(=) - VUS g.25032002C>A g.25013885C>A - - ARX_000019 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.197-86G>T r.(=) p.(=) - VUS g.25032001C>A g.25013884C>A - - ARX_000018 Alamut: new Acceptor-splice site - - - Germline - - - - - Andreas Laner
+/. 1 - c.250A>T r.(?) p.(Lys84Ter) - pathogenic g.25031862T>A g.25013745T>A ARX(NM_139058.3):c.250A>T (p.K84*) - ARX_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.303A>G r.(?) p.(Ala101=) - likely benign g.25031809T>C - ARX(NM_139058.2):c.303A>G (p.A101=) - ARX_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 2 2 c.306GGC[17] r.(?) p.(Ala109_Ala115dup) - pathogenic g.25031777_25031797dup - GCG[17]/Ala100[23] c.315_335dup, GCG[17]/Ala[23] c.315_335dup - ARX_000003 1 more item PubMed: Stromme 2002, OMIM:var0001 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.330_335dup r.(?) p.(Ala114_Ala115dup) - pathogenic g.25031803_25031808dup g.25013686_25013691dup ARX(NM_139058.2):c.330_335dupGGCGGC (p.A114_A115dup) - ARX_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.333_335del r.(?) p.(Ala115del) - likely benign g.25031806_25031808del - ARX(NM_139058.3):c.333_335delGGC (p.A115del) - ARX_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 1 2 c.424_455del r.(?) p.(Ala142Argfs*85) - pathogenic g.25031661_25031692del g.25013544_25013575del - - ARX_000007 not in >100 control chromosomes PubMed: Kitamura 2002, OMIM:var0005 - - Unknown yes - - - - Johan den Dunnen
-?/. 1 - c.435_452del r.(?) p.(Ala150_Ala155del) - likely benign g.25031666_25031683del g.25013549_25013566del ARX(NM_139058.2):c.435_452delCGCGGCAGCCGCGGCCGC (p.A150_A155del) - ARX_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.437C>T r.(?) p.(Ala146Val) - likely benign g.25031675G>A - ARX(NM_139058.2):c.437C>T (p.(Ala146Val)) - ARX_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.441A>G r.(?) p.(Ala147=) - likely benign g.25031671T>C g.25013554T>C ARX(NM_139058.3):c.441A>G (p.A147=) - ARX_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/. 2 - c.441_464del r.(?) p.(Ala148_Ala155del) - likely benign, VUS g.25031660_25031683del g.25013543_25013566del 1 more item - ARX_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen
+/? 5 2 c.441_464dup r.(?) p.(Ala148_Ala155dup) - pathogenic g.25031660_25031683dup g.25013543_25013566dup 428-451dup/Ala144[20] - ARX_000004 paper gives 428-451dup, Fig.2 shows 429-452dup PubMed: Stromme 2002, OMIM:var0002 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.462G>T r.(?) p.(Ala154=) - likely benign g.25031650C>A g.25013533C>A ARX(NM_139058.2):c.462G>T (p.A154=) - ARX_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.464_487dup r.(?) p.(Ser162_Gln163insProTrpAspThrLeuLysIleSer) - pathogenic g.25031625_25031648dup g.25013508_25013531dup - - ARX_000017 - - - - Germline - - - - - Andreas Laner
?/. 1 - c.488A>C r.(?) p.(Gln163Pro) - VUS g.25031624T>G g.25013507T>G ARX(NM_139058.2):c.488A>C (p.Q163P) - ARX_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.535G>C r.(?) p.(Gly179Arg) - VUS g.25031577C>G - ARX(NM_139058.2):c.535G>C (p.G179R) - ARX_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.558G>T r.(?) p.(Pro186=) - likely benign g.25031554C>A g.25013437C>A ARX(NM_139058.2):c.558G>T (p.P186=), ARX(NM_139058.3):c.558G>T (p.P186=) - ARX_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.592G>A r.(?) p.(Val198Ile) - likely benign g.25031520C>T - ARX(NM_139058.2):c.592G>A (p.(Val198Ile)) - ARX_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.596C>G r.(?) p.(Thr199Arg) - likely benign g.25031516G>C g.25013399G>C ARX(NM_139058.2):c.596C>G (p.T199R, p.(Thr199Arg)) - ARX_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.625G>A r.(?) p.(Gly209Ser) - likely benign g.25031487C>T g.25013370C>T ARX(NM_139058.2):c.625G>A (p.G209S) - ARX_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.646G>C r.(?) p.(Ala216Pro) - likely benign g.25031466C>G g.25013349C>G ARX(NM_139058.2):c.646G>C (p.A216P) - ARX_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.665_670dup r.(?) p.(Gly222_Thr223dup) - VUS g.25031449_25031454dup - 1 more item - ARX_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.669C>T r.(?) p.(=) - likely benign g.25031443G>A - ARX(NM_139058.3):c.669C>T (p.T223=) - ARX_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.708T>C r.(?) p.(Asp236=) - likely benign g.25031404A>G - ARX(NM_139058.2):c.708T>C (p.D236=) - ARX_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.774G>A r.(?) p.(Ala258=) - likely benign g.25031338C>T - ARX(NM_139058.2):c.774G>A (p.A258=) - ARX_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 2 c.790del r.(?) p.(Arg264Glyfs*61) - pathogenic g.25031325del g.25013208del - - ARX_000008 not in >100 control chromosomes PubMed: Kitamura 2002, OMIM:var0006 - - Unknown yes - - - - Johan den Dunnen
+?/. 1 - c.799_821dup r.(?) p.(Ala275Leufs*58) ACMG likely pathogenic g.25031291dup - - - ARX_000075 1 more item - - - Germline - - - - - Andreas Laner
-?/. 2 - c.802G>T r.(?) p.(Val268Leu) - likely benign g.25031310C>A g.25013193C>A ARX(NM_139058.2):c.802G>T (p.V268L), ARX(NM_139058.3):c.802G>T (p.V268L) - ARX_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.821T>C r.(?) p.(Val274Ala) - VUS g.25031291A>G - ARX(NM_139058.2):c.821T>C (p.(Val274Ala)) - ARX_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.856G>A r.(?) p.(Gly286Ser) - VUS g.25031256C>T g.25013139C>T ARX(NM_139058.2):c.856G>A (p.G286S) - ARX_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.859G>A r.(?) p.(Gly287Arg) - VUS g.25031253C>T g.25013136C>T ARX(NM_139058.3):c.859G>A (p.G287R) - ARX_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.931G>A r.(?) p.(Val311Met) - likely benign g.25031181C>T - ARX(NM_139058.2):c.931G>A (p.(Val311Met)) - ARX_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.956C>A r.(?) p.(Ser319*) - pathogenic g.25031156G>T - ARX(NM_139058.2):c.956C>A (p.S319*) - ARX_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.982delinsTTT r.(?) p.(Gln328Phefs*37) - pathogenic g.25031130delinsAAA g.25013013delinsAAA - - ARX_000021 - Mattiske et al 2016 pending - - Germline yes - - - - Cheryl Shoubridge
+/. 1 - c.985_986del r.(?) p.(Arg329AlafsTer202) - pathogenic g.25031128_25031129del g.25013011_25013012del ARX(NM_139058.2):c.985_986delAG (p.R329Afs*202) - ARX_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.994C>T r.(?) p.(Arg332Cys) - pathogenic g.25031118G>A g.25013001G>A - - ARX_000016 - - - - Germline - - - - - Andreas Laner
+/., +/? 2 2 c.995G>A r.(?) p.(Arg332His) - pathogenic g.25031117C>T g.25013000C>T - - ARX_000009 4 heterozygous, no homozygous; Clinindb (India), not in >100 control chromosomes PubMed: Kitamura 2002, OMIM:var0007, PubMed: Narang 2020, Journal: Narang 2020 - rs111033612 Germline yes 4/2754 individuals - - - Johan den Dunnen, Mohammed Faruq
+?/. 1 - c.1028T>C r.(?) p.(Leu343Pro) - likely pathogenic g.25031084A>G g.25012967A>G ARX(NM_139058.2):c.1028T>C (p.L343P) - ARX_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 2 2 c.1028T>G r.(?) p.(Leu343Gln) - pathogenic g.25031084A>C g.25012967A>C - - ARX_000014 not in >100 control chromosomes PubMed: Kitamura 2002, OMIM:var0012 - - Germline yes - - - - Johan den Dunnen
+?/. 1 - c.1057C>T r.(?) p.(Pro353Ser) - likely pathogenic g.25031055G>A g.25012938G>A - - ARX_000056 - PubMed: Papuc 2019 - - Germline - - - - - Anaïs Begemann
+/? 1 2 c.1058C>T r.(?) p.(Pro353Leu) - pathogenic g.25031054G>A g.25012937G>A - - ARX_000005 not in 100 control chromosomes PubMed: Stromme 2002, OMIM:var0003 - - Germline yes - MspI- - - Johan den Dunnen
+/. 1 - c.1073+1G>A r.spl? p.? - pathogenic g.25031038C>T g.25012921C>T - - ARX_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+? 1 - c.1073+5G>A r.(?) p.(?) ACMG VUS g.25031034C>T g.25012917C>T - - ARX_000078 ACMG grading: BP5,PM2,PP3; co-occurence with truncating variant in TSC1 - - - Germline - - - - - Andreas Laner
-/., -?/. 2 - c.1074-3T>C r.spl? p.? - benign, likely benign g.25028425A>G g.25010308A>G ARX(NM_139058.2):c.1074-3T>C, ARX(NM_139058.3):c.1074-3T>C - ARX_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
+?/., ?/. 2 - c.1109C>T r.(?) p.(Ala370Val) - likely pathogenic, VUS g.25028387G>A g.25010270G>A - - ARX_000054 variant unlikely to fully explain patient’s phenotype, VKGL data sharing initiative Nederland PubMed: El Chehadeh 2022 - - CLASSIFICATION record, Germline/De novo (untested) - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/., +?/. 2 3 c.1112G>A r.(?) p.(Arg371Gln) - likely pathogenic g.25028384C>T g.25010267C>T R371Q - ARX_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline yes - - - - Marie Shaw, VKGL-NL_Nijmegen
+/? 1 3 c.1117C>T r.(?) p.(Gln373*) - pathogenic g.25028379G>A g.25010262G>A - - ARX_000010 not in >100 control chromosomes PubMed: Kitamura 2002, OMIM:var0008 - - Germline yes - - - - Johan den Dunnen
-/. 1 - c.1119+83dup r.(=) p.(=) - benign g.25028300dup g.25010183dup ARX(NM_139058.2):c.1119+83dupG - ARX_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1135C>A r.(?) p.(Arg379Ser) - likely pathogenic g.25025541G>T - - - ARX_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 4 c.1150C>T r.(?) p.(Arg384Cys) - pathogenic g.25025526G>A g.25007409G>A R384C - ARX_000059 - - - - De novo yes - - - - Marie Shaw
+/. 1 - c.1151G>T r.(?) p.(Arg384Leu) - pathogenic g.25025525C>A g.25007408C>A - - ARX_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1170C>T r.(?) p.(Gly390=) - VUS g.25025506G>A - ARX(NM_139058.2):c.1170C>T (p.G390=) - ARX_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1186C>G r.(?) p.(Pro396Ala) - VUS g.25025490G>C - ARX(NM_139058.3):c.1186C>G (p.P396A) - ARX_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 1 4 c.1187dup r.(?) p.(Gly397Trpfs*135) - pathogenic g.25025494dup g.25007377dup - - ARX_000011 not in >100 control chromosomes PubMed: Kitamura 2002, OMIM:var0009 - - Unknown yes - - - - Johan den Dunnen
?/. 1 - c.1226C>T r.(?) p.(Pro409Leu) - VUS g.25025450G>A g.25007333G>A ARX(NM_139058.3):c.1226C>T (p.P409L) - ARX_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.1256_1260del r.(?) p.(Phe419SerfsTer111) - pathogenic g.25025420_25025424del g.25007303_25007307del - - ARX_000081 - - - - Unknown - - - - - IMGAG
+/. 1 - c.1260_1261del r.(?) p.(Pro421Alafs*110) - pathogenic g.25025416_25025417del - - - ARX_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1269C>T r.(?) p.(His423=) - likely benign g.25025407G>A - ARX(NM_139058.2):c.1269C>T (p.H423=) - ARX_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1272G>T r.(?) p.(=) - likely benign g.25025404C>A - ARX(NM_139058.2):c.1272G>T (p.P424=) - ARX_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1312_1320dup r.(?) p.(Ala438_Ala440dup) - VUS g.25025368_25025376dup g.25007251_25007259dup ARX(NM_139058.2):c.1312_1320dupGCCGCCGCC (p.A438_A440dup) - ARX_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1315_1320dup r.(?) p.(Ala439_Ala440dup) - VUS g.25025371_25025376dup g.25007254_25007259dup ARX(NM_139058.2):c.1315_1320dupGCCGCC (p.A439_A440dup) - ARX_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.1318_1320dup r.(?) p.(Ala440dup) - likely benign g.25025374_25025376dup g.25007257_25007259dup 1 more item - ARX_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/., -?/. 2 - c.1347C>T r.(=), r.(?) p.(=), p.(Gly449=) - benign, likely benign g.25025329G>A g.25007212G>A ARX(NM_139058.3):c.1347C>T (p.G449=) - ARX_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Utrecht
?/. 1 - c.1364C>A r.(?) p.(Pro455His) - VUS g.25025312G>T - ARX(NM_139058.2):c.1364C>A (p.P455H) - ARX_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 4 c.1372del r.(?) p.(Ala458Argfs*5) - pathogenic g.25025307del g.25007190del - - ARX_000013 not in >100 control chromosomes PubMed: Kitamura 2002, OMIM:var0011 - - Unknown yes - - - - Johan den Dunnen
+/. 1 - c.1374_1383del r.(?) p.(Pro459Ter) - pathogenic g.25025297_25025306del g.25007180_25007189del - - ARX_000085 - PubMed: Lefebvre 2021 - - Unknown - - - - - Johan den Dunnen
-?/. 1 - c.1389C>T r.(?) p.(=) - likely benign g.25025287G>A - ARX(NM_139058.3):c.1389C>T (p.S463=) - ARX_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1399G>T r.(?) p.(Gly467*) - pathogenic g.25025277C>A g.25007160C>A - - ARX_000098 - PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.1416_1417insGCTT r.(?) p.(His473AlafsTer60) - pathogenic g.25025259_25025260insAAGC - ARX(NM_139058.3):c.1416_1417insGCTT (p.H473Afs*60) - ARX_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 4 c.1425_1446del r.(?) p.(Phe476GlyfsTer9) - likely pathogenic g.25025232_25025253del g.25007115_25007136del - - ARX_000086 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1441_1447dup r.(?) p.(Arg483Ilefs*51) ACMG pathogenic g.25025234_25025240dup g.25007117_25007123dup 1447_1448insTTCGGCA - ARX_000099 ACMG PVS1,PM2,PM4 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - c.1444G>T r.(?) p.(Gly482Cys) - VUS g.25025232C>A - ARX(NM_139058.3):c.1444G>T (p.(Gly482Cys)) - ARX_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.1448+2T>C r.(?) p.(?) - likely pathogenic g.25025226A>G - - - ARX_000106 - - - - CLASSIFICATION record - - - - - MobiDetails
-/. 1 - c.1448+171del r.(=) p.(=) - benign g.25025067del g.25006950del ARX(NM_139058.3):c.1448+171delA - ARX_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? 1 4i_5 c.1449-816_*460del r.del p.? - pathogenic g.25022327_25023843del g.25004210_25005726del IVS4-816_Ex5701del/R483fs - ARX_000006 1517 bp deletion intron4/exon 5 PubMed: Stromme 2002, OMIM:var0004 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.1462A>G r.(?) p.(Met488Val) - VUS g.25023014T>C - ARX(NM_139058.2):c.1462A>G (p.M488V) - ARX_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1465del r.(?) p.(Ala489Profs*3) - pathogenic g.25023012del g.25004895del - - ARX_000080 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783191 Germline - 5/2748 individuals - - - Mohammed Faruq
+/. 1 - c.1471del r.(?) p.(Leu491Ter) - pathogenic g.25023010del g.25004893del - - ARX_000079 - - - - Unknown - - - - - IMGAG
-?/. 2 - c.1515A>G r.(?) p.(Thr505=) - likely benign g.25022961T>C g.25004844T>C ARX(NM_139058.2):c.1515A>G (p.T505=), ARX(NM_139058.3):c.1515A>G (p.T505=) - ARX_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/. 1 - c.1541C>A r.(?) p.(Ser514Ter) - pathogenic g.25022935G>T g.25004818G>T - - ARX_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1561G>A r.(?) p.(Ala521Thr) - VUS g.25022915C>T g.25004798C>T - - ARX_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 5 c.1579_1582del r.(?) p.(Arg527Alafs*5) ACMG likely pathogenic g.25022899_25022902del g.25004782_25004785del 1579_1582delAGAC - ARX_000057 - PubMed: Tumienė 2018 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.1589C>G r.(?) p.(Ser530Cys) - likely pathogenic g.25022887G>C g.25004770G>C - - ARX_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.1595T>C r.(?) p.(Ile532Thr) - likely pathogenic g.25022881A>G - - - ARX_000097 - - - - Unknown - - - - - MobiDetails
+?/., ./. 2 - c.1608G>T r.(?) p.(Arg536Ser) ACMG likely pathogenic (recessive), pathogenic g.25022868C>A g.25004751C>A ARX R536S - ARX_000058 - PubMed: Hu 2016, PubMed: Hu 2019 - - Germline yes - - - - Johan den Dunnen
-/., -?/., ?/. 5 - c.1671G>A r.(=), r.(?) p.(=), p.(Thr557=) - benign, likely benign, VUS g.25022805C>T g.25004688C>T ARX(NM_139058.2):c.1671G>A (p.T557=), ARX(NM_139058.3):c.1671G>A (p.T557=) - ARX_000020 VKGL data sharing initiative Nederland - - rs190910161 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.1689A>C r.(?) p.(Ter563TyrextTer37) - pathogenic g.25022787T>G g.25004670T>G - - ARX_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 5 c.*684del r.(?) p.(=) - VUS g.25022103del g.25003986del - - ARX_000001 - - - - Germline - - - - - Yu Sun
?/. 1 5 c.*684_*685del r.(=) p.(=) - VUS g.25022103_25022104del g.25003986_25003987del - - ARX_000002 - - - - Germline - - - - - Yu Sun
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