Unique variants in the LDB3 gene

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

278 entries on 3 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.-15G>A r.(?) p.(=) - benign g.88428434G>A - LDB3(NM_001171610.2):c.-15G>A - LDB3_000359 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.9C>A r.(?) p.(Tyr3Ter) - VUS g.88428457C>A g.86668700C>A - - LDB3_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.18C>T r.(?) p.(Thr6=) - likely benign g.88428466C>T g.86668709C>T LDB3(NM_001171610.2):c.18C>T (p.T6=) - LDB3_000352 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.30C>T r.(?) p.(Pro10=) - benign g.88428478C>T g.86668721C>T LDB3(NM_001171610.2):c.30C>T (p.P10=) - LDB3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.31G>A r.(?) p.(Gly11Arg) - VUS g.88428479G>A g.86668722G>A LDB3(NM_007078.2):c.31G>A (p.G11R) - LDB3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.54G>C r.(?) p.(Gln18His) - VUS g.88428502G>C - LDB3(NM_001171610.2):c.54G>C (p.Q18H) - LDB3_000381 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.56G>C r.(?) p.(Gly19Ala) - VUS g.88428504G>C g.86668747G>C LDB3(NM_007078.2):c.56G>C (p.G19A) - LDB3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 5 - c.59del r.(?) p.(Gly20AlafsTer41) - VUS g.88428507del g.86668750del 1 more item - LDB3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 3 - c.91C>T r.(?) p.(Arg31Trp) - VUS g.88428539C>T g.86668782C>T LDB3(NM_001171610.1):c.91C>T (p.R31W), LDB3(NM_001171610.2):c.91C>T (p.R31W) - LDB3_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.92G>A r.(?) p.(Arg31Gln) - VUS g.88428540G>A g.86668783G>A - - LDB3_000353 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.93+13T>C r.(=) p.(=) - benign g.88428554T>C g.86668797T>C LDB3(NM_001171610.2):c.93+13T>C - LDB3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 2i c.93+1916T>G r.(=) p.(=) - benign g.88430457T>G g.86670700T>G - - LDB3_000015 - PubMed: Griggs 2007 - rs2354363 Germline - - - - - Johan den Dunnen
-/. 1 2i c.93+3657G>A r.(=) p.(=) - benign g.88432198G>A g.86672441G>A - - LDB3_000016 - PubMed: Griggs 2007 - rs10788522 Germline - - - - - Johan den Dunnen
-/. 1 - c.94-30G>A r.(=) p.(=) - benign g.88439094G>A g.86679337G>A LDB3(NM_007078.2):c.94-30G>A - LDB3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.94-20C>T r.(=) p.(=) - benign, likely benign g.88439104C>T g.86679347C>T LDB3(NM_001171610.2):c.94-20C>T - LDB3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.98C>T r.(?) p.(Thr33Ile) - VUS g.88439128C>T g.86679371C>T LDB3(NM_007078.2):c.98C>T (p.T33I) - LDB3_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.105C>G r.(?) p.(Gly35=) - benign g.88439135C>G g.86679378C>G LDB3(NM_001171610.2):c.105C>G (p.G35=) - LDB3_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.107G>A r.(?) p.(Ser36Asn) - VUS g.88439137G>A g.86679380G>A LDB3(NM_001171610.2):c.107G>A (p.S36N) - LDB3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.114A>C r.(?) p.(Ala38=) - benign g.88439144A>C g.86679387A>C LDB3(NM_001171610.2):c.114A>C (p.A38=) - LDB3_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.144C>T r.(?) p.(Leu48=) - benign g.88439174C>T g.86679417C>T LDB3(NM_001171610.2):c.144C>T (p.L48=) - LDB3_000332 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.145G>C r.(?) p.(Val49Leu) - VUS g.88439175G>C g.86679418G>C LDB3(NM_001171610.1):c.145G>C (p.V49L) - LDB3_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.147G>A r.(?) p.(Val49=) - benign, likely benign g.88439177G>A g.86679420G>A LDB3(NM_001171610.2):c.147G>A (p.V49=) - LDB3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 3 - c.160G>A r.(?) p.(Gly54Ser) - VUS g.88439190G>A g.86679433G>A LDB3(NM_001171610.1):c.160G>A (p.G54S), LDB3(NM_001171610.2):c.160G>A (p.G54S) - LDB3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/., -?/. 7 3 c.163G>A r.(?) p.(Val55Ile) - benign, likely benign g.88439193G>A g.86679436G>A GTC>ATC codon 55, LDB3(NM_001171610.2):c.163G>A (p.V55I), LDB3(NM_007078.2):c.163G>A (p.V55I) - LDB3_000005 2 homozygous; Clinindb (India), 51 heterozygous; Clinindb (India), found in patients and controls, 1 more item PubMed: Arimura 2004, PubMed: Narang 2020, Journal: Narang 2020 - rs3740343 CLASSIFICATION record, Germline - 2/2795 individuals, 51/2795 individuals - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, Mohammed Faruq
-?/., ?/. 2 - c.167A>G r.(?) p.(Asn56Ser) - likely benign, VUS g.88439197A>G g.86679440A>G LDB3(NM_001171610.2):c.167A>G (p.N56S) - LDB3_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/., -?/. 2 - c.246-8T>A r.(=) p.(=) - benign, likely benign g.88439831T>A g.86680074T>A LDB3(NM_007078.2):c.246-8T>A - LDB3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/., -?/. 2 - c.273G>A r.(?) p.(Thr91=) - benign, likely benign g.88439866G>A g.86680109G>A LDB3(NM_001171610.2):c.273G>A (p.T91=), LDB3(NM_007078.2):c.273G>A (p.T91=) - LDB3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.281C>T r.(?) p.(Pro94Leu) - VUS g.88439874C>T g.86680117C>T LDB3(NM_001171610.2):c.281C>T (p.P94L) - LDB3_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/., ?/. 2 - c.295C>T r.(?) p.(Pro99Ser) - likely benign, VUS g.88439888C>T g.86680131C>T LDB3(NM_001171610.2):c.295C>T (p.P99S) - LDB3_000119 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs201693259 CLASSIFICATION record, Germline - 1/2795 individuals - - - VKGL-NL_AMC, Mohammed Faruq
?/. 1 - c.299T>C r.(?) p.(Leu100Pro) - VUS g.88439892T>C g.86680135T>C LDB3(NM_001171610.2):c.299T>C (p.L100P) - LDB3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 5 - c.302C>T r.(?) p.(Pro101Leu) - benign, likely benign g.88439895C>T g.86680138C>T 1 more item - LDB3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 2 - c.318G>A r.(?) p.(Gln106=) - likely benign g.88439911G>A g.86680154G>A LDB3(NM_001171610.2):c.318G>A (p.Q106=) - LDB3_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.321+19G>A r.(=) p.(=) - likely benign g.88439933G>A g.86680176G>A LDB3(NM_001171610.2):c.321+19G>A - LDB3_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.322-20C>T r.(=) p.(=) - likely benign g.88441173C>T g.86681416C>T - - LDB3_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.343G>A r.(?) p.(Gly115Ser) - VUS g.88441214G>A g.86681457G>A LDB3(NM_001171610.2):c.343G>A (p.G115S) - LDB3_000124 VKGL data sharing initiative Nederland PubMed: Walsh 2017 - - CLASSIFICATION record, Germline - 1/740 cases - - - Johan den Dunnen, VKGL-NL_Groningen
?/. 1 - c.343G>C r.(?) p.(Gly115Arg) - VUS g.88441214G>C g.86681457G>C LDB3(NM_007078.2):c.343G>C (p.(Gly115Arg)) - LDB3_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 6 - c.352G>A r.(?) p.(Val118Met) - benign, likely benign g.88441223G>A g.86681466G>A 1 more item - LDB3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.368G>A r.(?) p.(Ser123Asn) - VUS g.88441239G>A g.86681482G>A LDB3(NM_007078.2):c.368G>A (p.S123N) - LDB3_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.378G>A r.(?) p.(Ala126=) - benign g.88441249G>A g.86681492G>A LDB3(NM_001171610.2):c.378G>A (p.A126=) - LDB3_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.399_407del r.(?) p.(Gly134_Pro136del) - VUS g.88441270_88441278del g.86681513_86681521del LDB3(NM_001171610.2):c.399_407delAGGCACCCC (p.G134_P136del) - LDB3_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.408G>A r.(?) p.(Pro136=) - likely benign g.88441279G>A g.86681522G>A LDB3(NM_001171610.2):c.408G>A (p.P136=) - LDB3_000354 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.408G>T r.(?) p.(Pro136=) - benign g.88441279G>T g.86681522G>T LDB3(NM_001171610.2):c.408G>T (p.P136=) - LDB3_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.435C>T r.(?) p.(Ala145=) - likely benign g.88441306C>T g.86681549C>T LDB3(NM_001171610.1):c.435C>T (p.A145=) - LDB3_000355 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 5 - c.465C>T r.(?) p.(Leu155=) - benign, likely benign g.88441336C>T g.86681579C>T LDB3(NM_001171610.2):c.465C>T (p.L155=), LDB3(NM_007078.2):c.465C>T (p.L155=) - LDB3_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 5 - c.466G>A r.(?) p.(Ala156Thr) - benign, likely benign g.88441337G>A g.86681580G>A LDB3(NM_001171610.1):c.466G>A (p.A156T), LDB3(NM_001171610.2):c.466G>A (p.A156T) - LDB3_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.468C>T r.(?) p.(Ala156=) - benign g.88441339C>T g.86681582C>T LDB3(NM_001171610.2):c.468C>T (p.A156=) - LDB3_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.493C>T r.(?) p.(Arg165Trp) - benign g.88441364C>T - LDB3(NM_001171610.2):c.493C>T (p.R165W) - LDB3_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.494G>A r.(?) p.(Arg165Gln) - VUS g.88441365G>A - LDB3(NM_001171610.2):c.494G>A (p.R165Q) - LDB3_000365 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.496G>A r.(?) p.(Ala166Thr) - likely benign g.88441367G>A g.86681610G>A LDB3(NM_001171610.2):c.496G>A (p.A166T) - LDB3_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.498C>A r.(?) p.(Ala166=) - likely benign g.88441369C>A g.86681612C>A LDB3(NM_007078.2):c.498C>A (p.A166=) - LDB3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.508G>T r.(?) p.(Ala170Ser) - likely benign g.88441379G>T g.86681622G>T LDB3(NM_007078.2):c.508G>T (p.A170S) - LDB3_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.530C>A r.(?) p.(Ala177Asp) - VUS g.88441401C>A g.86681644C>A - - LDB3_000368 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/740 cases - - - Johan den Dunnen
-?/. 1 - c.530C>T r.(?) p.(Ala177Val) - likely benign g.88441401C>T g.86681644C>T - - LDB3_000333 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.533G>T r.(?) p.(Arg178Leu) - likely benign g.88441404G>T g.86681647G>T - - LDB3_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.544G>C r.(?) p.(Gly182Arg) - likely benign g.88441415G>C - LDB3(NM_001171610.1):c.544G>C (p.G182R) - LDB3_000376 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.560C>T r.(?) p.(Pro187Leu) - likely benign g.88441431C>T - LDB3(NM_001171610.2):c.560C>T (p.P187L) - LDB3_000360 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., -?/., ?/. 8 5 c.566C>T r.(?), r.566c>u p.(Ser189Leu), p.Ser189Leu - likely benign, pathogenic (dominant), VUS g.88441437C>T g.86681680C>T 587C>T (S196L), 1 more item - LDB3_000009 conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; Clinindb (India), 3 more items PubMed: Arimura 2009, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Vatta 2003, OMIM:var0005 - rs45487699 CLASSIFICATION record, Germline - 4/2794 individuals - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, Mohammed Faruq
-/., -?/. 2 - c.576G>A r.(?) p.(Pro192=) - benign, likely benign g.88441447G>A g.86681690G>A LDB3(NM_001171610.1):c.576G>A (p.P192=), LDB3(NM_001171610.2):c.576G>A (p.P192=) - LDB3_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 3 - c.576G>T r.(?) p.(Pro192=) - benign g.88441447G>T g.86681690G>T LDB3(NM_001171610.2):c.576G>T (p.P192=), LDB3(NM_007078.2):c.576G>T (p.P192=) - LDB3_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 3 4 c.608C>T r.(?) p.(Ser203Leu) - VUS g.88441479C>T g.86681722C>T LDB3(NM_001171610.2):c.608C>T (p.S203L) - LDB3_000140 VKGL data sharing initiative Nederland PubMed: Verhagen 2018, Journal: Verhagen 2018 - rs201538257 CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, Judith Verhagen
-/. 3 - c.609G>A r.(?) p.(Ser203=) - benign g.88441480G>A g.86681723G>A LDB3(NM_001171610.2):c.609G>A (p.S203=), LDB3(NM_007078.2):c.609G>A (p.S203=) - LDB3_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 2 - c.610G>A r.(?) p.(Ala204Thr) - VUS g.88441481G>A g.86681724G>A LDB3(NM_001080116.1):c.321+1567G>A - LDB3_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 2 5 c.617C>T r.(?), r.617c>u p.(Thr206Ile), p.Thr206Ile - pathogenic (dominant) g.88441488C>T g.86681731C>T 638C>T (T213I) - LDB3_000010 expression cloning COS7 cells, reduced binding to PGM1, 1 more item PubMed: Arimura 2009, PubMed: Vatta 2003, OMIM:var0006 - - De novo, Germline - - - - - Johan den Dunnen
?/. 1 - c.635A>T r.(?) p.(Gln212Leu) - VUS g.88441506A>T g.86681749A>T LDB3(NM_001171610.1):c.635A>T (p.Q212L) - LDB3_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.646A>T r.(?) p.(Met216Leu) - likely benign g.88441517A>T g.86681760A>T LDB3(NM_007078.2):c.646A>T (p.M216L) - LDB3_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.652C>T r.(?) p.(Leu218Phe) - likely benign g.88441523C>T g.86681766C>T LDB3(NM_001171610.2):c.652C>T (p.L218F) - LDB3_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.653T>C r.(?) p.(Leu218Pro) - likely benign g.88441524T>C g.86681767T>C LDB3(NM_001171610.2):c.653T>C (p.L218P) - LDB3_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 2 - c.655C>T r.(?) p.(Arg219Ter) - VUS g.88441526C>T g.86681769C>T LDB3(NM_001171610.1):c.655C>T (p.R219*) - LDB3_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/., ?/. 4 - c.664G>A r.(?) p.(Ala222Thr) - likely benign, VUS g.88441535G>A g.86681778G>A LDB3(NM_001171610.2):c.664G>A (p.A222T), LDB3(NM_007078.2):c.664G>A (p.A222T) - LDB3_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 2 - c.669G>A r.(?) p.(Ser223=) - likely benign g.88441540G>A g.86681783G>A LDB3(NM_007078.2):c.669G>A (p.S223=) - LDB3_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.675C>T r.(?) p.(Val225=) - likely benign g.88441546C>T g.86681789C>T LDB3(NM_001171610.2):c.675C>T (p.V225=) - LDB3_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.676G>A r.(?) p.(Gly226Arg) - VUS g.88441547G>A g.86681790G>A LDB3(NM_001171610.2):c.676G>A (p.G226R) - LDB3_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.689+9C>T r.(=) p.(=) - benign g.88441569C>T - LDB3(NM_001171610.2):c.689+9C>T - LDB3_000382 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 4 - c.689+10G>A r.(=) p.(=) - benign, likely benign g.88441570G>A g.86681813G>A LDB3(NM_001171610.1):c.689+10G>A, LDB3(NM_001171610.2):c.689+10G>A - LDB3_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-/., -?/. 3 - c.689+3861C>T r.(=) p.(=) - benign, likely benign g.88445421C>T g.86685664C>T LDB3(NM_001080116.1):c.322-14C>T, LDB3(NM_001171610.2):c.690-1405C>T - LDB3_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.689+3884A>G r.(=) p.(=) - VUS g.88445444A>G - - - LDB3_000367 - PubMed: Haskell 2017 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.690-4843C>T r.(=) p.(=) - benign g.88446810C>T - LDB3(NM_001171610.2):c.690-16C>T - LDB3_000377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.690-4842G>A r.(=) p.(=) - benign, likely benign g.88446811G>A g.86687054G>A LDB3(NM_001171610.2):c.690-15G>A - LDB3_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.690-4842G>T r.(=) p.(=) - benign g.88446811G>T g.86687054G>T LDB3(NM_001171610.2):c.690-15G>T - LDB3_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.690-4837C>T r.(=) p.(=) - benign, likely benign g.88446816C>T g.86687059C>T LDB3(NM_001171610.2):c.690-10C>T - LDB3_000334 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.690-4830dup r.(=) p.(=) - likely benign g.88446823dup g.86687066dup - - LDB3_000335 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.690-4826G>A r.(=) p.(=) - likely benign, VUS g.88446827G>A g.86687070G>A LDB3(NM_001171610.2):c.691G>A (p.A231T) - LDB3_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
+/., -/., -?/. 9 5, 5c c.690-4823G>A r.(=), r.(?) p.(=), p.(Asp230+10Asn) - benign, likely benign, pathogenic (dominant) g.88446830G>A g.86687073G>A 349G>A (D117N), 1 more item - LDB3_000012 8 heterozygous, no homozygous; Clinindb (India), not in 400 control chromosomes, 1 more item PubMed: Narang 2020, Journal: Narang 2020, PubMed: Vatta 2003, PubMed: Vatta 2003, OMIM:var0007 - rs121908338 CLASSIFICATION record, Germline - 8/2793 individuals - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, Mohammed Faruq
-/. 1 - c.690-4803C>T r.(=) p.(=) - benign g.88446850C>T g.86687093C>T LDB3(NM_001171610.2):c.714C>T (p.N238=) - LDB3_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.690-4779C>T r.(=) p.(=) - likely benign g.88446874C>T g.86687117C>T LDB3(NM_001171610.1):c.738C>T (p.A246=) - LDB3_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 5, 5c c.690-4765A>T r.(=), r.(?) p.(=), p.(Lys230+29Met) - pathogenic (dominant) g.88446888A>T g.86687131A>T 407A>T (K136M) - LDB3_000011 not in 400 control chromosomes; de novo, in patient PubMed: Vatta 2003, PubMed: Vatta 2003, OMIM:var0008 - - De novo, Germline - - - - - Johan den Dunnen
-?/. 1 - c.690-4757G>A r.(=) p.(=) - likely benign g.88446896G>A g.86687139G>A - - LDB3_000262 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.690-4755G>T r.(=) p.(=) - VUS g.88446898G>T g.86687141G>T - - LDB3_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.690-4739G>A r.(=) p.(=) - VUS g.88446914G>A g.86687157G>A LDB3(NM_001080116.1):c.433G>A (p.G145S) - LDB3_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 8 5, 5c c.690-4733G>A r.(=), r.(?) p.(=), p.(Ala230+40Thr) - pathogenic (dominant) g.88446920G>A g.86687163G>A 464G>A (A147T) - LDB3_000001 not in 220 control chromosomes; no variant in CRYGAb, DES, MYOT PubMed: Selcen 2005, PubMed: Selcen 2005, OMIM:var0001 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.690-4716G>A r.(=) p.(=) - likely benign g.88446937G>A g.86687180G>A LDB3(NM_001171610.1):c.801G>A (p.A267=) - LDB3_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 18 5, 5c c.690-4678C>T r.(=), r.(?) p.(=), p.(Ala230+58Val) - pathogenic (dominant) g.88446975C>T g.86687218C>T (A165V), 519C>T (A165V) - LDB3_000002 not in 220 control chromosomes; shared haplotype (Griggs 2007); no variant in CRYGAb, DES, MYOT, 1 more item PubMed: Griggs 2007, PubMed: Olivé 2011, PubMed: Selcen 2005, PubMed: Selcen 2005, OMIM:var0002 - - Germline - - - - - Johan den Dunnen
-/. 2 - c.690-4668T>C r.(=) p.(=) - benign g.88446985T>C g.86687228T>C LDB3(NM_001171610.2):c.849T>C (p.D283=) - LDB3_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 5 c.690-4652G>A r.(=) p.(=) - pathogenic (dominant) g.88447001G>A g.86687244G>A - - LDB3_000021 - PubMed: Olivé 2011 - - Germline - - - - - Johan den Dunnen
-/., -?/. 5 - c.690-4626T>C r.(=) p.(=) - benign, likely benign g.88447027T>C g.86687270T>C 1 more item - LDB3_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 2 - c.690-4621A>G r.(=) p.(=) - likely benign g.88447032A>G g.86687275A>G LDB3(NM_001171610.1):c.893+3A>G, LDB3(NM_001171610.2):c.893+3A>G - LDB3_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.690-4619G>T r.(=) p.(=) - VUS g.88447034G>T g.86687277G>T LDB3(NM_001171610.2):c.893+5G>T - LDB3_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.690-4617G>A r.(=) p.(=) - likely benign g.88447036G>A g.86687279G>A LDB3(NM_001171610.2):c.893+7G>A - LDB3_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.690-228del r.(=) p.(=) - benign g.88451425del g.86691668del - - LDB3_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.690-11_690-10del r.(=) p.(=) - benign g.88451642_88451643del g.86691885_86691886del LDB3(NM_001171610.2):c.894-11_894-10delCT, LDB3(NM_007078.2):c.690-11_690-10delCT - LDB3_000158, LDB3_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
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