Unique variants in the ATL1 gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_015915.4 transcript reference sequence.

122 entries on 2 pages. Showing entries 1 - 100.
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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 - c.-11C>T r.(?) p.(=) - likely benign g.51026973C>T g.50560255C>T ATL1(NM_001127713.1):c.-11C>T - ATL1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 4 2 c.35-3C>T r.35_282del, r.spl p.?, p.Gly12fs - pathogenic g.51054546C>T g.50587828C>T - - ATL1_000074 - PubMed: Park 2015, PubMed: Shin 2014 - - De novo, Germline, Germline/De novo (untested) yes - - - - Christian Beetz
-/., -?/. 4 2 c.84A>G r.(?) p.(=), p.(Pro28=) - benign, pathogenic g.51054598A>G g.50587880A>G ATL1(NM_001127713.1):c.84A>G (p.P28=) - ATL1_000061 VKGL data sharing initiative Nederland PubMed: Dufke 2012 - rs35014209 CLASSIFICATION record, Germline yes - - - - Christian Beetz, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/., ?/. 4 2 c.196G>C r.(?) p.(Glu66Gln) - pathogenic, VUS g.51054710G>C g.50587992G>C ATL1(NM_001127713.1):c.196G>C (p.E66Q), ATL1(NM_015915.4):c.196G>C (p.E66Q) - ATL1_000047 VKGL data sharing initiative Nederland PubMed: Guelly 2011 - - CLASSIFICATION record, Germline, Germline/De novo (untested) yes - - - - Christian Beetz, VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 2 - c.322A>G r.(?) p.(Thr108Ala) - likely benign g.51057698A>G - ATL1(NM_001127713.1):c.322A>G (p.T108A) - ATL1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/., -?/. 11 3 c.351G>A r.(?) p.(=), p.(Glu117=) - benign, pathogenic g.51057727G>A g.50591009G>A ATL1(NM_001127713.1):c.351G>A (p.E117=) - ATL1_000060 VKGL data sharing initiative Nederland PubMed: Dufke 2012 - rs1060197 CLASSIFICATION record, Germline yes - - - - Christian Beetz, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/., +?/? 6 3 c.353G>A r.(?) p.(Arg118Gln) - likely pathogenic, pathogenic g.51057729G>A g.50591011G>A - - ATL1_000051 - PubMed: Khan 2014 - - Germline yes - - - - Tahir Khan, Christian Beetz
-/. 1 - c.417+3A>G r.spl? p.? - benign g.51057796A>G g.50591078A>G ATL1(NM_001127713.1):c.417+3A>G - ATL1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 3 - c.418-19G>T r.(=) p.(=) - benign g.51058234G>T g.50591516G>T ATL1(NM_001127713.1):c.418-19G>T - ATL1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 4 c.(417+1_418-1)_(522+1_523-1)del r.? p.? - pathogenic g.(51057794_51058252)_(51058358_51060563)del - del exon 4 - ATL1_000079 - PubMed: Sulek 2013 - - De novo yes - - - - Christian Beetz
?/. 1 - c.439A>T r.(?) p.(Thr147Ser) - VUS g.51058274A>T - ATL1(NM_001127713.1):c.439A>T (p.T147S) - ATL1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.450C>A r.(?) p.(Thr150=) - likely benign g.51058285C>A - ATL1(NM_001127713.1):c.450C>A (p.T150=) - ATL1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 14 4 c.452T>C r.(?) p.(Phe151Ser) - pathogenic g.51058287T>C g.50591569T>C F151S - ATL1_000012 variant present in affected index and his father, absent in his mother PubMed: Abel 2004, PubMed: Ivanova 2007 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz, Mahmoud Koko
+/. 4 4 c.458G>C r.(?) p.(Ser153Thr) - pathogenic g.51058293G>C g.50591575G>C - - ATL1_000055 - PubMed: Dufke 2012, PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - Christian Beetz
+/. 2 4 c.460C>G r.(?) p.(Gln154Glu) - pathogenic g.51058295C>G g.50591577C>G - - ATL1_000044 - PubMed: Álvarez 2010 - - De novo, Germline yes - - - - Christian Beetz
+/. 6 4 c.467C>T r.(?) p.(Thr156Ile) - pathogenic g.51058302C>T g.50591584C>T C635T - ATL1_000011 - PubMed: Hedera 2004 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 3 4 c.470T>G r.(?) p.(Leu157Trp) - pathogenic g.51058305T>G g.50591587T>G - - ATL1_000023 - PubMed: Ivanova 2007, PubMed: Rainier 2006 - - De novo, Germline, Germline/De novo (untested) yes - - - - Johan den Dunnen, Christian Beetz
+/. 2 4 c.473G>C r.(?) p.(Arg158Thr) - pathogenic g.51058308G>C g.50591590G>C - - ATL1_000056 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - Christian Beetz
+/. 14 4 c.481G>C r.(?) p.(Ala161Pro) - pathogenic g.51058316G>C g.50591598G>C A161P - ATL1_000008 - PubMed: Abel 2004, PubMed: Sauter 2004 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 1 4 c.484A>C r.(?) p.(Thr162Pro) - pathogenic g.51058319A>C g.50591601A>C - - ATL1_000021 - PubMed: Namekawa 2006 - - Germline yes - - - - Christian Beetz
+/., +?/. 5 4 c.488T>C r.(?) p.(Val163Ala) - likely pathogenic, pathogenic g.51058323T>C g.50591605T>C ATL1(NM_001127713.1):c.488T>C (p.V163A) - ATL1_000052 VKGL data sharing initiative Nederland PubMed: de Bot 2013 - - CLASSIFICATION record, Germline, Germline/De novo (untested) yes - - - - Christian Beetz, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 2 4 c.493G>A r.(?) p.(Ala165Thr) - pathogenic g.51058328G>A g.50591610G>A - - ATL1_000037 - PubMed: Smith 2009 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 1 - c.493G>T r.(?) p.(Ala165Ser) - pathogenic g.51058328G>T g.50591610G>T - - ATL1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.508A>G r.(?) p.(Ile170Val) - VUS g.51058343A>G g.50591625A>G ATL1(NM_001127713.1):c.508A>G (p.(Ile170Val)) - ATL1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
+/. 8 5 c.565C>G r.(?) p.(His189Asp) - pathogenic g.51060606C>G g.50593888C>G - - ATL1_000033 - PubMed: Li 2007 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 4 5 c.572A>G r.(?) p.(Gln191Arg) - pathogenic g.51060613A>G g.50593895A>G - - ATL1_000031 - PubMed: Ivanova 2007 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
-?/. 1 - c.574-6T>C r.(=) p.(=) - likely benign g.51062288T>C g.50595570T>C ATL1(NM_001127713.1):c.574-6T>C - ATL1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 6 c.587A>G r.(?) p.(Tyr196Cys) - pathogenic g.51062307A>G g.50595589A>G - - ATL1_000042 - PubMed: McCorquodale 2011 - - Germline yes - - - - Christian Beetz
-?/. 1 - c.621G>A r.(?) p.(Lys207=) - likely benign g.51062341G>A g.50595623G>A ATL1(NM_001127713.1):c.621G>A (p.K207=) - ATL1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 6i c.630+7G>A r.(=), r.(?) p.(=) - benign, pathogenic g.51062357G>A g.50595639G>A ATL1(NM_001127713.1):c.630+7G>A - ATL1_000062 VKGL data sharing initiative Nederland PubMed: Dufke 2012 - rs3759588 CLASSIFICATION record, Germline yes - - - - Christian Beetz, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.630+20T>G r.(=) p.(=) - likely benign g.51062370T>G g.50595652T>G - - ATL1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 7 c.638T>C r.(?) p.(Ile213Thr) - pathogenic g.51079984T>C g.50613266T>C L157W - ATL1_000064 - PubMed: Rainier 2006 - - De novo, Germline yes - - - - Christian Beetz
+/. 13 7 c.650G>A r.(?) p.(Arg217Gln) - pathogenic g.51079996G>A g.50613278G>A 818G>A (Arg217Gln), R217Q - ATL1_000004 - PubMed: Abel 2004, PubMed: Muglia 2002, PubMed: Sauter 2004 - - Germline, Germline/De novo (untested) yes - - - - Johan den Dunnen, Christian Beetz
?/. 1 - c.670G>A r.(?) p.(Glu224Lys) - VUS g.51080016G>A g.50613298G>A - - ATL1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.674T>C r.(?) p.(Phe225Ser) - likely pathogenic g.51080020T>C g.50613302T>C - - ATL1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.692G>T r.(?) p.(Gly231Val) - VUS g.51080038G>T - ATL1(NM_001127713.1):c.692G>T (p.G231V) - ATL1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.693T>C r.(?) p.(Gly231=) - benign g.51080039T>C g.50613321T>C ATL1(NM_001127713.1):c.693T>C (p.G231=) - ATL1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.705C>T r.(?) p.(Phe235=) - benign g.51080051C>T g.50613333C>T - - ATL1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 132 7 c.715C>T r.(?) p.(Arg239Cys) - pathogenic g.51080061C>T g.50613343C>T 884C>T (R239C), p.R239C, R239C - ATL1_000001 VKGL data sharing initiative Nederland PubMed: Abel 2004, PubMed: Álvarez 2010, PubMed: Balicza 2016, PubMed: Chan 2009, PubMed: Dufke 2012, 18 more items - - CLASSIFICATION record, De novo, Germline, Germline/De novo (untested) yes - - - - Christian Beetz, VKGL-NL_Nijmegen
+/. 4 7 c.716G>T r.(?) p.(Arg239Leu) - pathogenic g.51080062G>T g.50613344G>T - - ATL1_000038 - PubMed: Smith 2009 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 2 8 c.730G>A r.(?) p.(Gly244Arg) - pathogenic g.51081097G>A g.50614379G>A - - ATL1_000057 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - Christian Beetz
?/. 1 - c.735C>A r.(?) p.(Asn245Lys) ACMG VUS g.51081102C>A g.50614384C>A - - ATL1_000119 ACMG grading: BP4,PM2 - - - Germline - - - - - Andreas Laner
+/. 4 8 c.740A>C r.(?) p.(His247Pro) - pathogenic g.51081107A>C g.50614389A>C H247P - ATL1_000009 - PubMed: Abel 2004, PubMed: Sauter 2004 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 6 8 c.740A>G r.(?) p.(His247Arg) - pathogenic g.51081107A>G g.50614389A>G - - ATL1_000039 - PubMed: Elert-Dobkowska 2015, PubMed: Smith 2009 - - Germline yes - - - - Christian Beetz
?/. 1 - c.748C>G r.(?) p.(Leu250Val) - VUS g.51081115C>G g.50614397C>G - - ATL1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 7 8 c.749T>C r.(?) p.(Leu250Pro) - pathogenic g.51081116T>C g.50614398T>C - - ATL1_000032 - PubMed: Ivanova 2007 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 5 8 c.751C>A r.(?) p.(Gln251Lys) - pathogenic g.51081118C>A g.50614400C>A - - ATL1_000019 - PubMed: Dürr 2004 - - Germline yes - - - - Christian Beetz
+/., +?/. 23 8 c.757G>A r.(?) p.(Val253Ile) - likely pathogenic, pathogenic g.51081124G>A g.50614406G>A p.253Val>Ile, V253I - ATL1_000020 VKGL data sharing initiative Nederland PubMed: Álvarez 2010, PubMed: Dürr 2004, PubMed: Klein 2014, PubMed: McCorquodale 2011, 2 more items - - CLASSIFICATION record, Germline, Germline/De novo (untested) yes - - - - Christian Beetz, VKGL-NL_Nijmegen
+/. 13 8 c.766C>A r.(?) p.(His256Asn) - pathogenic g.51081133C>A g.50614415C>A - - ATL1_000063 - PubMed: Álvarez 2010 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 34 8 c.773A>G r.(?) p.(His258Arg) - pathogenic g.51081140A>G g.50614422A>G H258R - ATL1_000002 - PubMed: Abel 2004, PubMed: Ivanova 2007, PubMed: Luo 2014, PubMed: Zhao 2001 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 23 8 c.776C>A r.(?) p.(Ser259Tyr) - pathogenic g.51081143C>A g.50614425C>A S259Y - ATL1_000003 VKGL data sharing initiative Nederland PubMed: Abel 2004, PubMed: Dürr 2004, PubMed: Zhao 2001 - - CLASSIFICATION record, Germline yes - - - - Christian Beetz, VKGL-NL_Nijmegen
+/. 7 8 c.776C>T r.(?) p.(Ser259Phe) - pathogenic g.51081143C>T g.50614425C>T - - ATL1_000036 - PubMed: Smith 2009 - - Germline yes - - - - Christian Beetz
+/. 13 8 c.818G>A r.(?) p.(Gly273Asp) - pathogenic g.51081185G>A g.50614467G>A - - ATL1_000078 - PubMed: Muglia 2002 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
?/. 1 - c.893A>G r.(?) p.(Lys298Arg) - VUS g.51087347A>G g.50620629A>G - - ATL1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 9 c.944T>G r.(?) p.(Ile315Ser) - pathogenic g.51087398T>G g.50620680T>G I315S - ATL1_000013 - PubMed: Abel 2004, PubMed: Namekawa 2006 - - Germline yes - - - - Christian Beetz
+/. 2 9 c.976del r.(?) p.(Val326Trpfs*8) - pathogenic g.51087430del g.50620712del - - ATL1_000046 - PubMed: Guelly 2011 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 3 10 c.998T>A r.(?) p.(Ile333Lys) - pathogenic g.51088568T>A g.50621850T>A - - ATL1_000058 - PubMed: Elert-Dobkowska 2015 - - Germline yes - - - - Christian Beetz
+/. 4 10 c.1006T>C r.(?) p.(Tyr336His) - pathogenic g.51088576T>C g.50621858T>C - - ATL1_000026 - PubMed: Ivanova 2007, PubMed: Loureiro 2013 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 1 10 c.1024C>T r.(?) p.(Pro342Ser) - pathogenic g.51088594C>T g.50621876C>T - - ATL1_000060 - PubMed: Dufke 2012 - - Germline yes - - - - Christian Beetz
+/., ?/. 3 10 c.1025C>A r.(?) p.(Pro342Gln) - pathogenic, VUS g.51088595C>A g.50621877C>A - - ATL1_000053 VKGL data sharing initiative Nederland PubMed: de Bot 2013 - - CLASSIFICATION record, Germline, Germline/De novo (untested) yes - - - - Christian Beetz, VKGL-NL_Nijmegen
+/. 1 10 c.1030C>T r.(?) p.(Pro344Ser) - pathogenic g.51088600C>T g.50621882C>T C>T P344S>CT - ATL1_000066 - PubMed: Fusco 2012 - - De novo yes - - - - Christian Beetz
+/. 1 - c.1034A>C r.(?) p.(Lys345Thr) - pathogenic g.51088604A>C g.50621886A>C - - ATL1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 10 10 c.1040T>C r.(?) p.(Met347Thr) - pathogenic g.51088610T>C g.50621892T>C - - ATL1_000048 - PubMed: Al-Maawali 2011, PubMed: Leonardi 2015 - - De novo, Germline, Germline/De novo (untested) yes - - - - Christian Beetz
-?/. 1 - c.1047+12T>C r.(=) p.(=) - likely benign g.51088629T>C g.50621911T>C - - ATL1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1048-5C>T r.spl? p.? - likely benign g.51089890C>T - ATL1(NM_015915.4):c.1048-5C>T - ATL1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1049C>T r.(?) p.(Ala350Val) - VUS g.51089896C>T - - - ATL1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 28 11 c.1065C>A r.(?) p.(Asn355Lys) - pathogenic g.51089912C>A g.50623194C>A ATL1(NM_001127713.1):c.1065C>A (p.N355K), C1065A - ATL1_000045 VKGL data sharing initiative Nederland PubMed: Guelly 2011, PubMed: Leonardis 2012, PubMed: Polymeris 2016 - - CLASSIFICATION record, De novo, Germline, Germline/De novo (untested) yes - - - - Christian Beetz, VKGL-NL_AMC
?/. 1 - c.1067A>G r.(?) p.(Asn356Ser) - VUS g.51089914A>G g.50623196A>G - - ATL1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1078G>A r.(?) p.(Val360Met) - VUS g.51089925G>A g.50623207G>A - - ATL1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 12 c.1123T>C r.(?) p.(Cys375Arg) - pathogenic g.51094752T>C g.50628034T>C - - ATL1_000022 - PubMed: Namekawa 2006 - - Germline yes - - - - Christian Beetz
-?/. 1 - c.1152A>G r.(?) p.(Pro384=) - likely benign g.51094781A>G g.50628063A>G - - ATL1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 12 c.1160T>C r.(?) p.(Leu387Ser) - pathogenic g.51094789T>C g.50628071T>C - - ATL1_000077 - PubMed: Park 2015 - - Germline yes - - - - Christian Beetz
+?/. 1 - c.1160T>G r.(?) p.Leu387Trp ACMG likely pathogenic g.51094789T>G g.50628071T>G - - ATL1_000113 1 more item - - - Germline - - - - - Andreas Laner
+/. 12 12 c.1193C>A r.(?) p.(Ser398Tyr) - pathogenic g.51094822C>A g.50628104C>A S298Y - ATL1_000014 - PubMed: Abel 2004, PubMed: Dürr 2004 - - Germline yes - - - - Christian Beetz
+/. 1 12 c.1193C>T r.(?) p.(Ser398Phe) - pathogenic g.51094822C>T g.50628104C>T S398F - ATL1_000040 - PubMed: Fusco 2010 - - De novo yes - - - - Christian Beetz
+/. 10 12 c.1204T>G r.(?) p.(Phe402Val) - pathogenic g.51094833T>G g.50628115T>G - - ATL1_000067 - PubMed: Zhao 2015 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 6 12 c.1220A>G r.(?) p.(Lys407Arg) - pathogenic g.51094849A>G g.50628131A>G - - ATL1_000035 - PubMed: Svenstrup 2009 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+?/. 1 - c.1220_1222del r.(?) p.(Lys407del) ACMG likely pathogenic g.51094849_51094851del g.50628131_50628133del - - ATL1_000121 1 more item Chrestian et al. 2017. Neurol Genet 3: 122 - - Germline - - - - - Andreas Laner
+/. 7 12 c.1222A>G r.(?) p.(Met408Val) - pathogenic g.51094851A>G g.50628133A>G - - ATL1_000006 - PubMed: Dalpozzo 2003 - rs28939094 Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 1 12 c.1223T>C r.(?) p.(Met408Thr) - pathogenic g.51094852T>C g.50628134T>C - - ATL1_000027 - PubMed: Ivanova 2007 - - De novo yes - - - - Christian Beetz
+/., ?/. 2 12 c.1226G>A r.(?) p.(Gly409Asp) - pathogenic, VUS g.51094855G>A g.50628137G>A - - ATL1_000071 VKGL data sharing initiative Nederland PubMed: Yonekawa 2014 - - CLASSIFICATION record, De novo yes - - - - Christian Beetz, VKGL-NL_Nijmegen
-/. 2 - c.1230G>A r.(?) p.(Gly410=) - benign g.51094859G>A g.50628141G>A ATL1(NM_001127713.1):c.1230G>A (p.=) - ATL1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 2 12 c.1237T>C r.(?) p.(Phe413Leu) - pathogenic g.51094866T>C g.50628148T>C - - ATL1_000015 - PubMed: Dürr 2004 - - Germline yes - - - - Christian Beetz
+/. 2 12 c.1237T>G r.(?) p.(Phe413Val) - pathogenic g.51094866T>G g.50628148T>G - - ATL1_000043 - PubMed: Álvarez 2010 - - Germline yes - - - - Christian Beetz
+/. 18 12 c.1242C>G r.(?) p.(Ser414Arg) - pathogenic g.51094871C>G g.50628153C>G - - ATL1_000072 - PubMed: Lu 2014 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/., +?/. 71 12 c.1243C>T r.(?) p.(Arg415Trp) - likely pathogenic, pathogenic g.51094872C>T g.50628154C>T R415W - ATL1_000010 VKGL data sharing initiative Nederland PubMed: Álvarez 2010, PubMed: D'Amico 2004, PubMed: Di Fabio 2014, PubMed: Elert-Dobkowska 2015, 2 more items - - CLASSIFICATION record, Germline, Germline/De novo (untested) yes - - - - Johan den Dunnen, Christian Beetz, VKGL-NL_Nijmegen
+/., -?/. 5 12 c.1244G>A r.(?) p.(Arg415Gln) - likely benign, pathogenic g.51094873G>A g.50628155G>A 1244A>G, ATL1(NM_001127713.1):c.1244G>A (p.R415Q) - ATL1_000050 VKGL data sharing initiative Nederland PubMed: Varga 2013 - - CLASSIFICATION record, Germline yes - MspI- - - Johan den Dunnen, Christian Beetz, VKGL-NL_Rotterdam
+/., +?/. 30 12 c.1246C>T r.(?) p.(Arg416Cys) ACMG likely pathogenic, pathogenic g.51094875C>T g.50628157C>T p.Arg416Cys - ATL1_000049 ACMG grading: PVS1,PS2,PM2; Jongmans et al. 2006. J Med Genet 43: 306, 1 more item PubMed: Luo 2014, PubMed: Magariello 2012, PubMed: Orlacchio 2011 - rs387906941 CLASSIFICATION record, Germline, Germline/De novo (untested) yes - - - - Andreas Laner, Christian Beetz, VKGL-NL_Nijmegen
+/. 2 12 c.1247G>A r.(?) p.(Arg416His) - pathogenic g.51094876G>A g.50628158G>A - - ATL1_000041 - PubMed: de Leva 2010 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+?/. 1 - c.1249T>C r.(?) p.(Tyr417His) - likely pathogenic g.51094878T>C g.50628160T>C - - ATL1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 10 12 c.1306_1308del r.(?) p.(Asn436del) - pathogenic g.51094935_51094937del g.50628217_50628219del 1306_1308delAAT, p.del436N - ATL1_000025 - PubMed: Meijer 2007, PubMed: Svenstrup 2009 - - De novo, Germline yes - - - - Christian Beetz
+/. 1 12 c.1308T>A r.(?) p.(Asn436Lys) - pathogenic g.51094937T>A g.50628219T>A - - ATL1_000068 - PubMed: Leonardi 2015 - - De novo yes - - - - Christian Beetz
-?/. 1 - c.1311T>C r.(?) p.(Asp437=) - likely benign g.51094940T>C g.50628222T>C - - ATL1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 4 12 c.1319A>C r.(?) p.(Asn440Thr) - pathogenic g.51094948A>C g.50628230A>C - - ATL1_000016 - PubMed: Álvarez 2010, PubMed: Dürr 2004 - - Germline yes - - - - Christian Beetz
-?/. 2 - c.1332A>C r.(?) p.(Ala444=) - likely benign g.51094961A>C g.50628243A>C ATL1(NM_001127713.1):c.1332A>C (p.A444=) - ATL1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/., +?/. 4 12 c.1376A>G r.(?) p.(Tyr459Cys) - likely pathogenic, pathogenic g.51095005A>G g.50628287A>G Y459C - ATL1_000024 VKGL data sharing initiative Nederland PubMed: Matsui 2007 - - CLASSIFICATION record, Germline, Germline/De novo (untested) yes - - - - Christian Beetz, VKGL-NL_Nijmegen
+/. 4 12 c.1406G>C r.(?) p.(Gly469Ala) - pathogenic g.51095035G>C g.50628317G>C - - ATL1_000028 - PubMed: Ivanova 2007 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 2 12 c.1423A>G r.(?) p.(Ser475Gly) - pathogenic g.51095052A>G g.50628334A>G - - ATL1_000070 - PubMed: Svenstrup 2009 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 5 12 c.1445G>T r.(?) p.(Gly482Val) - pathogenic g.51095074G>T g.50628356G>T - - ATL1_000029 - PubMed: Ivanova 2007 - - Germline, Germline/De novo (untested) yes - - - - Christian Beetz
+/. 1 12 c.1465_1466dup r.(?) p.(Thr490Alafs*18) - pathogenic g.51095094_51095095dup g.50628376_50628377dup 1466_1467insTG - ATL1_000073 - PubMed: Lu 2014 - - Germline/De novo (untested) yes - - - - Christian Beetz
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