Full data view for gene MLC1

Information The variants shown are described using the NM_015166.3 transcript reference sequence.

949 entries on 10 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     
+/. 10i_12_ c.(894+1_895-1)_*2192{0} r.? p.? Unknown - pathogenic g.(?_50497820)_(50502628_50506861)del g.(?_50059391)_(50064199_50068432)del del ex11-12 - MLC1_000075 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10i_12_ c.(894+1_895-1)_*2192{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(?_50497820)_(50502628_50506861)del g.(?_50059391)_(50064199_50068432)del del ex11-12 - MLC1_000075 - - - - Germline - - - - - DNA MLPA, SEQ - - MLC EL1223 - - - - Pakistan - - - - - 1 Rogier Min
+/. 10i_12_ c.(894+1_895-1)_*2192{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(?_50497820)_(50502628_50506861)del g.(?_50059391)_(50064199_50068432)del del ex11-12 - MLC1_000075 - - - - Germline - - - - - DNA MLPA, SEQ - - MLC EL1226 - - - - Pakistan - - - - - 1 Rogier Min
+/. - c.-1143062_*3317068del r.0? p.0? Unknown - pathogenic g.47182944_51666786del - - - ALG12_000022 mosaicism, hemizygous in 0.56 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.-4806C>A r.(?) p.(=) Unknown - likely benign g.50528530G>T g.50090101G>T MOV10L1(NM_018995.3):c.13G>T (p.A5S) - MLC1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.-195T>C r.? p.(=) Unknown - likely pathogenic g.50523919A>G g.50085490A>G - - MLC1_000201 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.-195T>C r.195u>c p.? Both (homozygous) - likely pathogenic (recessive) g.50523919A>G g.50085490A>G - - MLC1_000201 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS MLC EL1064 - - - - United States - - - - - 1 Rogier Min
+?/. 1 c.-195T>C r.195u>c p.? Paternal (confirmed) - likely pathogenic (recessive) g.50523919A>G g.50085490A>G - - MLC1_000201 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS MLC EL1072 - - - - Brazil - - - - - 1 Rogier Min
+?/. 1 c.-190A>G r.? p.(=) Unknown - likely pathogenic g.50523914T>C g.50085485T>C - - MLC1_000200 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.-190A>G r.190a>g p.? Paternal (confirmed) - likely pathogenic (recessive) g.50523914T>C g.50085485T>C - - MLC1_000200 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS MLC EL27 - - - - Croatia (Hrvatska) - - - - - 1 Rogier Min
-/. - c.-156C>T r.(?) p.(=) Unknown - benign g.50523880G>A g.50085451G>A -549C>T - MLC1_000199 - PubMed: Rubie 2003 - - Germline - 2/100 control individuals - - - DNA SEQ - - Healthy/Control - PubMed: Rubie 2003 analysis 140 cases periodic catatonia/100 controls - - - - - - - - 2 Johan den Dunnen
+?/. 2 c.-42C>T r.? p.(=) Unknown - likely pathogenic g.50523373G>A g.50084944G>A - - MLC1_000198 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-42C>T r.(?) p.? Both (homozygous) - likely pathogenic (recessive) g.50523373G>A g.50084944G>A - - MLC1_000198 variant suggested to create upstream translation initiation site PubMed: Kariminejad 2015 - - Germline - - - - - DNA SEQ - - MLC Pat14 PubMed: Kariminejad 2015 - M yes Iran - - - - - 1 Johan den Dunnen
+?/. 2 c.-42C>T r.(?) p.? Both (homozygous) - likely pathogenic (recessive) g.50523373G>A g.50084944G>A - - MLC1_000198 - - - - Germline - - - - - DNA PCRq, SEQ - - MLC LT185 - - - - - - - - - - 1 Rogier Min
+?/. 2 c.-42C>T r.(?) p.? Both (homozygous) - likely pathogenic (recessive) g.50523373G>A g.50084944G>A - - MLC1_000198 - - - - Germline - - - - - DNA PCRq, SEQ - - MLC EL926 - - - - Australia - - - - - 1 Rogier Min
+?/. 2 c.-42C>T r.(?) p.? Both (homozygous) - likely pathogenic (recessive) g.50523373G>A g.50084944G>A - - MLC1_000198 - - - - Germline - - - - - DNA PCRq, SEQ - - MLC EL981 - - - - Iran - - - - - 1 Rogier Min
-/. 12 c.*733_*885rep[3>1] r.(=) p.(=) Both (homozygous) - benign g.50499129_50499281rep[3>1] g.50060700_50060852rep[3>1] - - MLC1_000052 3 unit 51bp repeat 3'UTR reduced to 1 unit PubMed: Boor 2006 - - Germline - - - - - DNA PCR - - Healthy/Control control PubMed: Boor 2006 - - - Netherlands - - - - - 1 Johan den Dunnen
-/. 12 c.*733_*885rep[3>2] r.(=) p.(=) Parent #1 - benign g.50499129_50499281rep[3>2] g.50060700_50060852rep[3>2] - - MLC1_000053 3 unit 51bp repeat 3'UTR reduced to 2 units PubMed: Boor 2006 - - Germline - - - - - DNA PCR - - Healthy/Control control PubMed: Boor 2006 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. 11i_12_ c.1059+568_*2192{0} r.? p.? Unknown - pathogenic (recessive) g.(?_50497820)_50501896del g.(?_50059391)_50063467del g.240706_251959del - MLC1_000061 deletion breakpoint can not be determined from data provided PubMed: Boor 2006 - - Germline - - - - - DNA PCR, SEQ - - MLC - PubMed: Boor 2006 - - - France - - - - - 1 Johan den Dunnen
+/. - c.? r.(?) p.(Gly206Ter) Unknown - pathogenic (recessive) g.? - c.597_598delA+33 (Gly206X) - MLC1_000000 description variant makes no sense PubMed: Boor 2006 - - Germline - - - - - DNA SEQ - - MLC - PubMed: Boor 2006 - - - Brazil - - - - - 1 Johan den Dunnen
+/. - c.3G>A r.(?) p.(Met1?) Unknown - pathogenic g.50523329C>T g.50084900C>T - - MLC1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.40C>G r.(?) p.(Arg14Gly) Unknown - VUS g.50523292G>C - MLC1(NM_015166.4):c.40C>G (p.(Arg14Gly)) - MLC1_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.65G>A r.(?) p.(Arg22Gln) Unknown - likely pathogenic g.50523267C>T g.50084838C>T - - MLC1_000073 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.65G>A r.(?) p.(Arg22Gln) Paternal (confirmed) - likely pathogenic (recessive) g.50523267C>T g.50084838C>T - - MLC1_000073 - PubMed: Wang 2011 - - Germline - - - - - DNA SEQ - - MLC Pat6 PubMed: Wang 2011 - - - China - - - - - 1 Rogier Min
+?/. 2 c.65G>A r.(?) p.(Arg22Gln) Paternal (confirmed) - likely pathogenic (recessive) g.50523267C>T g.50084838C>T - - MLC1_000073 - PubMed: Wang 2011 - - Germline - - - - - DNA SEQ - - MLC Pat7 PubMed: Wang 2011 - - - China - - - - - 1 Rogier Min
+?/. 2 c.65G>A r.(?) p.(Arg22Gln) Maternal (confirmed) - likely pathogenic (recessive) g.50523267C>T g.50084838C>T - - MLC1_000073 - - - - Germline - - - - - DNA SEQ - - MLC LT198 - - - - - - - - - - 1 Rogier Min
+/. - c.65G>A r.(?) p.(Arg22Gln) Maternal (confirmed) - pathogenic (recessive) g.50523267C>T - - - MLC1_000073 - PubMed: Wang 2011 - - Germline - - - - - DNA SEQ - - MLC Pat5 PubMed: Wang 2011 - - - China - - - - - 1 Johan den Dunnen
+/. 2 c.67C>T r.(?) p.(Gln23Ter) Unknown - pathogenic g.50523265G>A g.50084836G>A - - MLC1_000197 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.67C>T r.(?) p.(Gln23Ter) Maternal (confirmed) - pathogenic (recessive) g.50523265G>A g.50084836G>A - - MLC1_000197 - - - - Germline - - - - - DNA SEQ - - MLC EL997 - - - - India - - - - - 1 Rogier Min
-?/. - c.95C>T r.(?) p.(Ala32Val) Unknown - likely benign g.50523237G>A g.50084808G>A MLC1(NM_015166.3):c.95C>T (p.A32V) - MLC1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.95C>T r.(?) p.(Ala32Val) Maternal (confirmed) - VUS g.50523237G>A g.50084808G>A - - MLC1_000037 - PubMed: Wang 2011, PubMed: Cao 2016 - - Germline - - - - - DNA SEQ - - MLC Pat9;Pat16 PubMed: Wang 2011, PubMed: Cao 2016 - M - China - - - - - 1 Rogier Min
+?/. 2 c.109del r.(?) p.(Leu37CysfsTer21) Unknown - likely pathogenic g.50523224del g.50084795del 109delC - MLC1_000196 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.109del r.(?) p.(Leu37CysfsTer21) Both (homozygous) - likely pathogenic (recessive) g.50523224del g.50084795del 109delC - MLC1_000196 - - - - Germline - - - - - DNA SEQ - - MLC LT72 - - - - - - - - - - 1 Rogier Min
+/. 2 c.111_112dup r.(?) p.(Gln38ArgfsTer21) Unknown - pathogenic g.50523220_50523221dup g.50084791_50084792dup - - MLC1_000059 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.111_112dup r.(?) p.(Gln38Argfs*21) Both (homozygous) - pathogenic (recessive) g.50523220_50523221dup g.50084791_50084792dup 110_111insGC - MLC1_000059 - PubMed: Boor 2006 - - Germline - - - - - DNA SEQ - - MLC - PubMed: Boor 2006 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 2 c.111_112dup r.(?) p.(Gln38ArgfsTer21) Both (homozygous) - pathogenic (recessive) g.50523220_50523221dup g.50084791_50084792dup - - MLC1_000059 - - - - Germline - - - - - DNA SEQ - - MLC EL642 - - - - Germany;Turkey - - - - - 1 Rogier Min
+/. 2 c.111_112dup r.(?) p.(Gln38ArgfsTer21) Both (homozygous) - pathogenic (recessive) g.50523220_50523221dup g.50084791_50084792dup - - MLC1_000059 - - - - Germline - - - - - DNA SEQ - - MLC EL674 - - - - Germany;Turkey - - - - - 1 Rogier Min
+/. 2 c.135del r.(?) p.(Cys46AlafsTer12) Unknown - pathogenic g.50523202del g.50084773del - - MLC1_000195 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.135del r.(?) p.(Cys46AlafsTer12) Parent #1 - pathogenic (recessive) g.50523202del g.50084773del 135delC - MLC1_000195 - PubMed: Kariminejad 2015 - - Germline - - - - - DNA SEQ - - MLC Pat7 PubMed: Kariminejad 2015 - F no Iran - - - - - 1 Johan den Dunnen
+/. 2 c.135del r.(?) p.(Cys46AlafsTer12) Paternal (confirmed) - pathogenic (recessive) g.50523202del g.50084773del - - MLC1_000195 - - - - Germline - - - - - DNA SEQ - - MLC EL941 - - - - Iran - - - - - 1 Rogier Min
+/. 2 c.135del r.(?) p.(Cys46AlafsTer12) Unknown - pathogenic (recessive) g.50523202del g.50084773del - - MLC1_000195 - - - - Germline - - - - - DNA SEQ - - MLC LT178 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135del r.135del p.Cys46AlafsTer12 Maternal (confirmed) - pathogenic (recessive) g.50523202del g.50084773del - - MLC1_000195 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MLC LT226 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135del r.(?) p.(Cys46AlafsTer12) Unknown - pathogenic (recessive) g.50523202del g.50084773del - - MLC1_000195 - - - - Germline - - - - - DNA SEQ - - MLC LT228 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic g.50523202dup g.50084773dup - - MLC1_000046 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5680 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Unknown - pathogenic g.50523202dup g.50084773dup - - MLC1_000046 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 135insC - MLC1_000046 - PubMed: Leegwater 2002 - - Germline - - - - - DNA SSCA, SEQ - - MLC M44 PubMed: Leegwater 2002 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 135insC - MLC1_000046 - PubMed: Leegwater 2002 - - Germline - - - - - DNA SSCA, SEQ - - MLC M141 PubMed: Leegwater 2002 - - - India - - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 135insC - MLC1_000046 - PubMed: Leegwater 2002 - - Germline - - - - - DNA SSCA, SEQ - - MLC M198 PubMed: Leegwater 2002 - - - India - - - - - 1 Johan den Dunnen
+/. - c.135dup r.(?) p.(Cys46Leufs*34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 134_136insC - MLC1_000046 - PubMed: Ben-Zeev 2002 - - Germline - - - - - DNA SEQ - - MLC Fam7 PubMed: Ben-Zeev 2002 2-generation family, 1 affected, unaffected heterozygous carrier parents F - India - - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD1 PubMed: Gorospe 2004 - F - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD3 PubMed: Gorospe 2004 - M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD5 PubMed: Gorospe 2004 - M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD6 PubMed: Gorospe 2004 - M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD8 PubMed: Gorospe 2004 - F - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD9 PubMed: Gorospe 2004 - M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD12 PubMed: Gorospe 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD15 PubMed: Gorospe 2004 - M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD16 PubMed: Gorospe 2004 - M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD19 PubMed: Gorospe 2004 - M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD24 PubMed: Gorospe 2004 - M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD25 PubMed: Gorospe 2004 2-generation family, 2 affected sibs (2M), unaffected parents M - India Agarwal - - - - 2 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD26 PubMed: Gorospe 2004 sib M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD27 PubMed: Gorospe 2004 - F - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD31 PubMed: Gorospe 2004 - F - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD32 PubMed: Gorospe 2004 - F - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD34 PubMed: Gorospe 2004 - M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD35 PubMed: Gorospe 2004 2-generation family, 2 affected sibs (F, M), unaffected parents M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD35A PubMed: Gorospe 2004 sib F - India Agarwal - - - - 2 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD36 PubMed: Gorospe 2004 - M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD37 PubMed: Gorospe 2004 - M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD38 PubMed: Gorospe 2004 - M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD39 PubMed: Gorospe 2004 - F - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD40A PubMed: Gorospe 2004 2-generation family, 2 affected sibs (F, M), unaffected parents F - India Agarwal - - - - 2 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD40B PubMed: Gorospe 2004 sib M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD42 PubMed: Gorospe 2004 - F - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD43 PubMed: Gorospe 2004 - F - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD44A PubMed: Gorospe 2004 2-generation family, 2 affected sibs (F, M), unaffected parents F - India Agarwal - - - - 2 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD44B PubMed: Gorospe 2004 sib M - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD45 PubMed: Gorospe 2004 - F - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup 320insC - MLC1_000046 - PubMed: Gorospe 2004 - - Germline - - - - - DNA SEQ - - MLC LD46 PubMed: Gorospe 2004 - F - India Agarwal - - - - 1 Johan den Dunnen
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT35 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT36 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT37 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT38 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT39 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT40 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT41 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT42 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT43 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT44 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT45 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT46 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT47 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT48 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT49 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT50 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT51 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT52 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT53 - - - - - - - - - - 1 Rogier Min
+/. 2 c.135dup r.(?) p.(Cys46LeufsTer34) Both (homozygous) - pathogenic (recessive) g.50523202dup g.50084773dup - - MLC1_000046 - - - - Germline - - - - - DNA SEQ - - MLC LT54 - - - - - - - - - - 1 Rogier Min
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