Full data view for gene LMX1B

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

265 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-3C>T r.(?) p.(=) Unknown - likely benign g.129376726C>T g.126614447C>T - - LMX1B_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.28_29delinsAA r.(?) p.(Leu10Lys) Unknown - VUS g.129376756_129376757delinsAA - - - LMX1B_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36G>C r.(?) p.(Arg12Ser) Unknown - likely benign g.129376764G>C - LMX1B(NM_001174146.1):c.36G>C (p.(Arg12Ser)) - LMX1B_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.58_100dup r.(?) p.(Ala34Glyfs*128) Unknown ACMG pathogenic g.129376786_129376828dup g.126614507_126614549dup - - LMX1B_000226 - - - - Germline - - - - - DNA SEQ blood - NPS - - - F - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.60C>T r.(?) p.(Asp20=) Unknown - likely benign g.129376788C>T - LMX1B(NM_002316.4):c.60C>T (p.D20=) - LMX1B_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.113_114delinsT r.(?) p.(Gly38Valfs*31) Parent #1 - pathogenic g.129376841_129376842delinsT g.126614562_126614563delinsT c.113_114delGGinsT - LMX1B_000144 - PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/. - c.139+1G>T r.spl? p.? Unknown - pathogenic g.129376868G>T g.126614589G>T - - LMX1B_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1i c.139+2T>C r.spl? p.? Unknown - likely pathogenic g.129376869T>C g.126614590T>C - - LMX1B_000161 - PubMed: Ghoumid 2016, Journal: Ghoumid 2016 - - Germline yes - - - - DNA SEQ - - NPS 25898926-Fam1 PubMed: Ghoumid 2016, Journal: Ghoumid 2016 family, 3 affecteds (F, 2M) F;M no France - - - - - 3 Fabienne Escande
+?/. 3 c.140-143dup r.(?) p.Leu110thrfs*39 Unknown - likely pathogenic g.129377845_129377848dup - - - LMX1B_000151 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Ghoumid 2016, Journal: Ghoumid 2016 - - Germline - - - - - DNA SEQ - - NPS - PubMed: Ghoumid 2016, Journal: Ghoumid 2016 - M no (France) - - - - - 1 Fabienne Escande
?/+? 2 c.140-37_140-20del r.(=) p.(=) Unknown - VUS g.129377625_129377642del g.126615346_126615363del - - LMX1B_000003 - - - - Unknown - - - - - DNA SEQ - - - - - - - - - - - - - - 1 Philippe Campeau
-?/. - c.140-4A>G r.spl? p.? Unknown - likely benign g.129377658A>G g.126615379A>G LMX1B(NM_001174146.2):c.140-4A>G - LMX1B_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.140-4A>G r.spl? p.? Unknown - likely benign g.129377658A>G - LMX1B(NM_001174146.2):c.140-4A>G - LMX1B_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1i c.140-2A>G r.spl p.? Parent #1 - pathogenic g.129377660A>G g.126615381A>G c.140-2A>G - LMX1B_000123 Splice site mutation PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/. - c.140-2A>G r.spl? p.? Unknown - pathogenic g.129377660A>G - - - LMX1B_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1i c.140-1G>A r.spl p.? Parent #1 - pathogenic g.129377661G>A g.126615382G>A c.140-1G>A - LMX1B_000125 Splice site mutation PubMed: McIntosh et al. 1998 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/. - c.140-1G>A r.spl? p.? Unknown - pathogenic g.129377661G>A g.126615382G>A - - LMX1B_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.155_181del r.(?) p.(His52_Gln60del) Parent #1 - pathogenic g.129377677_129377703del g.126615398_126615424del c.154_180del - LMX1B_000127 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.166T>A r.(?) p.(Cys56Ser) Parent #1 - pathogenic g.129377688T>A g.126615409T>A c.166T>A - LMX1B_000129 - PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.169G>T r.(?) p.(Glu57*) Parent #1 - pathogenic g.129377691G>T g.126615412G>T c.169G>T - LMX1B_000131 - PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/. - c.169G>T r.(?) p.(Glu57*) Unknown - pathogenic g.129377691G>T g.126615412G>T - - LMX1B_000131 - - - - Germline - - - - - DNA PCR - - NPS - - - - - - - - - - - 1 Yutaka Harita
+/? 2 c.175T>C r.(?) p.(Cys59Arg) Parent #1 - pathogenic g.129377697T>C g.126615418T>C c.175T>C - LMX1B_000133 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.176G>A r.(?) p.(Cys59Tyr) Parent #1 - pathogenic g.129377698G>A g.126615419G>A c.176G>A - LMX1B_000135 - PubMed: Bongers et al. 2002 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.176G>C r.(?) p.(Cys59Ser) Parent #1 - pathogenic g.129377698G>C g.126615419G>C c.176G>C - LMX1B_000137 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.177C>A r.(?) p.(Cys59*) Parent #1 - pathogenic g.129377699C>A g.126615420C>A c.177C>A - LMX1B_000139 - PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.186del r.(?) p.(Ile63Serfs*6) Parent #1 - pathogenic g.129377708del g.126615429del c.184delC - LMX1B_000140 - PubMed: Hamlington et al. 2001 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
?/. - c.188T>C r.(?) p.(Ile63Thr) Unknown - VUS g.129377710T>C - - - LMX1B_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.208C>T r.(?) p.(Arg70*) Parent #1 - pathogenic g.129377730C>T g.126615451C>T c.208C>T - LMX1B_000141 - PubMed: Hamlington et al. 2001 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/. - c.208C>T r.(?) p.(Arg70Ter) Unknown - pathogenic g.129377730C>T g.126615451C>T - - LMX1B_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.214_321del r.(?) p.(Asn72_Tyr107del) Parent #1 - pathogenic g.129377736_129377843del g.126615457_126615564del c.214_321del - LMX1B_000142 - PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.221C>A r.(?) p.(Ser74*) Parent #1 - pathogenic g.129377743C>A g.126615464C>A c.221C>A - LMX1B_000143 - PubMed: Hamlington et al. 2001 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.223_231del r.(?) p.(Ser75_His77del) Parent #1 - pathogenic g.129377745_129377753del g.126615466_126615474del c.223_231del - LMX1B_000004 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+?/. 2 c.225dup r.(?) p.(Trp76Leufs*72) Parent #1 - likely pathogenic g.129377747dup g.126615468dup 225dupC - LMX1B_000158 - PubMed: Ghoumid 2016, Journal: Ghoumid 2016 - - Germline yes - - - - DNA SEQ - - NPS 25898926-Fam3 PubMed: Ghoumid 2016, Journal: Ghoumid 2016 family, 2 affected (2F) F - France - - - - - 1 Fabienne Escande
+/? 2 c.226T>C r.(?) p.(Trp76Arg) Parent #1 - pathogenic g.129377748T>C g.126615469T>C c.226T>C - LMX1B_000005 - PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.227G>A r.(?) p.(Trp76*) Parent #1 - pathogenic g.129377749G>A g.126615470G>A c.227G>A - LMX1B_000006 - PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.228G>A r.(?) p.(Trp76*) Parent #1 - pathogenic g.129377750G>A g.126615471G>A c.228G>A - LMX1B_000007 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.229C>A r.(?) p.(His77Asn) Parent #1 - pathogenic g.129377751C>A g.126615472C>A c.229C>A - LMX1B_000008 - PubMed: Hamlington et al. 2001 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.229C>T r.(?) p.(His77Tyr) Parent #1 - pathogenic g.129377751C>T g.126615472C>T c.229C>T - LMX1B_000009 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.230A>T r.(?) p.(His77Leu) Parent #1 - pathogenic g.129377752A>T g.126615473A>T c.230A>T - LMX1B_000010 - PubMed: Bongers et al. 2002 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+?/. 2 c.230_231insGAGGATGGCA r.(?) p.(His77Glnfs*74) Unknown - likely pathogenic g.129377752_129377753insGAGGATGGCA g.126615473_126615474insGAGGATGGCA - - LMX1B_000162 - PubMed: Ghoumid 2016, Journal: Ghoumid 2016 - - Unknown - - - - - DNA SEQ - - NPS 25898926-Fam5 PubMed: Ghoumid 2016, Journal: Ghoumid 2016 - F no (France) - - - - - 1 Fabienne Escande
+/? 2 c.231C>G r.(?) p.(His77Gln) Parent #1 - pathogenic g.129377753C>G g.126615474C>G c.231C>G - LMX1B_000011 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.232G>T r.(?) p.(Glu78*) Parent #1 - pathogenic g.129377754G>T g.126615475G>T c.232G>T - LMX1B_000012 - PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
?/? 2 c.235G>T r.(?) p.(Glu79*) Unknown - VUS g.129377757G>T g.126615478G>T - - LMX1B_000001 - PubMed: Bongers et al. 2005 - - Unknown - - - - - DNA SEQ - - NPS - - - - - - - - - - - 1 Philippe Campeau
?/? N/A c.238T>A r.(?) p.(Cys80Ser) Unknown - VUS g.129377760T>A g.126615481T>A - - LMX1B_000002 - - - - Unknown - - - - - DNA SEQ - - NPS - - - - - - - - - - - 1 Philippe Campeau
+/? 2 c.238T>C r.(?) p.(Cys80Arg) Parent #1 - pathogenic g.129377760T>C g.126615481T>C c.238T>C - LMX1B_000013 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.239delinsAA r.(?) p.(Cys80*) Parent #1 - pathogenic g.129377761delinsAA g.126615482delinsAA c.239delGinsAA - LMX1B_000014 - PubMed: Hamlington et al. 2001 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+?/. 2 c.239G>A r.(?) p.(Cys80Tyr) Unknown - likely pathogenic g.129377761G>A g.126615482G>A - - LMX1B_000165 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - NPS - - - - - Germany - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
?/. - c.239G>A r.(?) p.(Cys80Tyr) Unknown - VUS g.129377761G>A - - - LMX1B_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.242T>G r.(?) p.(Leu81Trp) Parent #1 - pathogenic g.129377764T>G g.126615485T>G c.242T>G - LMX1B_000015 - PubMed: Hamlington et al. 2001 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.244C>T r.(?) p.(Gln82*) Parent #1 - pathogenic g.129377766C>T g.126615487C>T c.244C>T - LMX1B_000016 - PubMed: Vollrath et al. 1998 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.247T>C r.(?) p.(Cys83Arg) Parent #1 - pathogenic g.129377769T>C g.126615490T>C c.247T>C - LMX1B_000017 - PubMed: Hamlington et al. 2001 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/. - c.247T>C r.(?) p.(Cys83Arg) Unknown - pathogenic g.129377769T>C g.126615490T>C LMX1B(NM_001174146.2):c.247T>C (p.C83R) - LMX1B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.247T>G r.(?) p.(Cys83Gly) Parent #1 - pathogenic g.129377769T>G g.126615490T>G c.247T>G - LMX1B_000018 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.248G>A r.(?) p.(Cys83Tyr) Parent #1 - pathogenic g.129377770G>A g.126615491G>A c.248G>A - LMX1B_000019 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.248G>T r.(?) p.(Cys83Phe) Parent #1 - pathogenic g.129377770G>T g.126615491G>T c.248G>T - LMX1B_000020 - PubMed: Hamlington et al. 2001 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.256dup r.(?) p.(Cys86Leufs*62) Parent #1 - pathogenic g.129377778dup g.126615499dup c.256dupT - LMX1B_000021 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.256T>C r.(?) p.(Cys86Arg) Parent #1 - pathogenic g.129377778T>C g.126615499T>C c.256T>C - LMX1B_000022 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.256T>G r.(?) p.(Cys86Gly) Parent #1 - pathogenic g.129377778T>G g.126615499T>G c.256T>G - LMX1B_000023 - PubMed: Bongers et al. 2005 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.256T>G r.(?) p.(Cys86Gly) Parent #1 - pathogenic g.129377778T>G g.126615499T>G c.256T>G - LMX1B_000023 - PubMed: Bongers et al. 2005 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+?/. - c.256T>G r.(?) p.(Cys86Gly) Unknown - likely pathogenic g.129377778T>G - - - LMX1B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.259C>T r.(?) p.(Gln87*) Parent #1 - pathogenic g.129377781C>T g.126615502C>T c.259C>T - LMX1B_000025 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/. - c.259C>T r.(?) p.(Gln87Ter) Unknown - pathogenic g.129377781C>T g.126615502C>T - - LMX1B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.259_304del r.(?) p.(Gln87Thrfs*27) Parent #1 - pathogenic g.129377781_129377826del g.126615502_126615547del c.256_301del - LMX1B_000024 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.269_270dup r.(?) p.(Leu90Profs*58) Parent #1 - pathogenic g.129377791_129377792dup g.126615512_126615513dup c.268dupTC - LMX1B_000026 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.269_270ins57 r.(?) p.? Parent #1 - pathogenic g.129377791_129377792ins57 - c.269_270ins57 - LMX1B_000027 insertion mutation in the Lim-A domain, resulting in disruption of the Zn-finger PubMed: Hamlington et al. 2001 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.269_276del r.(?) p.(Leu90Glnfs*55) Parent #1 - pathogenic g.129377791_129377798del g.126615512_126615519del c.269_276del - LMX1B_000117 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+?/. - c.280T>C r.(?) p.(Cys94Arg) Unknown - likely pathogenic g.129377802T>C g.126615523T>C - - LMX1B_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.282C>G r.(?) p.(Cys94Trp) Parent #1 - pathogenic g.129377804C>G g.126615525C>G c.282C>G - LMX1B_000118 - PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+?/. - c.282C>G r.(?) p.(Cys94Trp) Unknown - likely pathogenic g.129377804C>G g.126615525C>G - - LMX1B_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.302T>G r.(?) p.(Leu101Arg) Unknown - VUS g.129377824T>G - - - LMX1B_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.303_304del r.(?) p.(Tyr102Leufs*45) Parent #1 - pathogenic g.129377825_129377826del g.126615546_126615547del c.302_303delTG - LMX1B_000119 - PubMed: Vollrath et al. 1998 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
?/. - c.305A>G r.(?) p.(Tyr102Cys) Unknown - VUS g.129377827A>G - - - LMX1B_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.308G>A r.(?) p.(Cys103Tyr) Unknown - likely pathogenic g.129377830G>A - LMX1B(NM_002316.4):c.308G>A (p.C103Y) - LMX1B_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.308G>C r.(?) p.(Cys103Ser) Parent #1 - pathogenic g.129377830G>C g.126615551G>C c.308G>C - LMX1B_000120 - PubMed: Hamlington et al. 2001 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/. - c.309C>G r.(?) p.(Cys103Trp) Unknown - pathogenic g.129377831C>G g.126615552C>G - - LMX1B_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.312del r.(?) p.(Lys104Asnfs*25) Parent #1 - pathogenic g.129377834del g.126615555del c.312delA - LMX1B_000121 - PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+?/. 2 c.312dup r.(?) p.(Gln105Thrfs*43) Unknown - likely pathogenic g.129377834dup g.126615555dup - - LMX1B_000146 - PubMed: Ghoumid 2016, Journal: Ghoumid 2016 - - Germline - - - - - DNA SEQ - - NPS - PubMed: Ghoumid 2016, Journal: Ghoumid 2016 - M no - - - - - - 1 Fabienne Escande
+?/. 2 c.313C>T r.(?) p.(Gln105Thrfs*43) Unknown - likely pathogenic g.129377835C>T g.126615556C>T - - LMX1B_000149 - PubMed: Ghoumid 2016, Journal: Ghoumid 2016 - - Germline - - - - - DNA SEQ - - NPS - PubMed: Ghoumid 2016, Journal: Ghoumid 2016 - M no (France) - - - - - 1 Fabienne Escande
+/? 2 c.313del r.(?) p.(Gln105Lysfs*24) Parent #1 - pathogenic g.129377835del g.126615556del c.313delC - LMX1B_000122 - PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/. - c.316G>A r.(?) p.(Asp106Asn) Unknown - pathogenic g.129377838G>A g.126615559G>A - - LMX1B_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.317A>C r.(?) p.(Asp106Ala Unknown - likely pathogenic g.129377839A>C g.126615560A>C - - LMX1B_000148 - PubMed: Ghoumid 2016, Journal: Ghoumid 2016 - - Germline - - - - - DNA SEQ - - NPS - PubMed: Ghoumid 2016, Journal: Ghoumid 2016 - F no (France) - - - - - 1 Fabienne Escande
+/? 2 c.317A>G r.(?) p.(Asp106Gly) Parent #1 - pathogenic g.129377839A>G g.126615560A>G c.317A>G - LMX1B_000124 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.320del r.(?) p.(Tyr107Serfs*22) Parent #1 - pathogenic g.129377842del g.126615563del c.320delA - LMX1B_000126 - PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.321C>G r.(?) p.(Tyr107*) Parent #1 - pathogenic g.129377843C>G g.126615564C>G c.321C>G - LMX1B_000128 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.322C>T r.(?) p.(Gln108*) Parent #1 - pathogenic g.129377844C>T g.126615565C>T c.322C>T - LMX1B_000130 - PubMed: Hamlington et al. 2001 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/. - c.322C>T r.(?) p.(Gln108Ter) Unknown - pathogenic g.129377844C>T g.126615565C>T - - LMX1B_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.322del r.(?) p.(Gln108Asnfs*21) Parent #1 - pathogenic g.129377844del g.126615565del c.322delC - LMX1B_000132 - PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 2 c.325C>T r.(?) p.(Gln109*) Parent #1 - pathogenic g.129377847C>T g.126615568C>T c.325C>T - LMX1B_000134 - PubMed: Hamlington et al. 2001 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/. - c.325C>T r.(?) p.(Gln109*) Unknown - pathogenic g.129377847C>T - - - LMX1B_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2i c.326+1G>A r.spl p.? Parent #1 - pathogenic g.129377849G>A g.126615570G>A c.326+1G>A - LMX1B_000092 Splice site mutation PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/. - c.326+1G>A r.spl? p.? Unknown - pathogenic g.129377849G>A g.126615570G>A - - LMX1B_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2i c.326+2T>C r.spl p.? Parent #1 - pathogenic g.129377850T>C g.126615571T>C c.326+2T>C - LMX1B_000068 Splice site mutation PubMed: McIntosh et al. 1998 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/. - c.326+2T>C r.spl? p.? Unknown - pathogenic g.129377850T>C g.126615571T>C - - LMX1B_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2i c.326+3T>C r.spl p.? Parent #1 - pathogenic g.129377851T>C g.126615572T>C c.326+3T>C - LMX1B_000069 Splice site mutation Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
-/. - c.326+7G>C r.(=) p.(=) Unknown - benign g.129377855G>C g.126615576G>C LMX1B(NM_001174146.2):c.326+7G>C - LMX1B_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.326+7G>C r.(=) p.(=) Unknown - benign g.129377855G>C g.126615576G>C LMX1B(NM_001174146.2):c.326+7G>C - LMX1B_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2i c.327-2A>G r.spl p.? Parent #1 - pathogenic g.129453113A>G g.126690834A>G c.327-2A>G - LMX1B_000071 Splice site mutation PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/. - c.327-2A>T r.spl? p.? Unknown - pathogenic g.129453113A>T g.126690834A>T - - LMX1B_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.327_334del r.(?) p.(Gln109Hisfs*36) Parent #1 - pathogenic g.129453115_129453122del g.126690836_126690843del c.327_334del - LMX1B_000072 - PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 3 c.343T>C r.(?) p.(Cys115Arg) Parent #1 - pathogenic g.129453131T>C g.126690852T>C c.343T>C - LMX1B_000073 - PubMed: Dunston et al. 2004 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
+/? 3 c.353G>A r.(?) p.(Cys118Tyr) Parent #1 - pathogenic g.129453141G>A g.126690862G>A c.353G>A - LMX1B_000074 - PubMed: Clough et al. 1999 - - Unknown yes - - - - DNA SEQ - - NPS - - - ? no - - - - - - 1 Philippe Campeau
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