Full data view for gene LAMA2

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_000426.3 transcript reference sequence.

67 entries on 1 page. Showing entries 1 - 67.
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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     
+/. 14 c.2049_2050del r.2049_2050del p.Arg683Serfs*21 Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2096-2097del - LAMA2_000018 unknown variant 2nd chromosome PubMed: Pegoraro 1998 - - Germline - - - - - DNA, RNA PTT, SSCA, SEQ - - MDC 09674786-Pat7 PubMed: Pegoraro 1998 contractures ankles/knees/wrists/elbows, abnormal white matter, no seizures M - (United States) - - - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Maternal (confirmed) - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2098delAG ex13 - LAMA2_000018 unknown variant 2nd chromosome PubMed: Guicheney 1998 - - Germline - - - - - DNA SEQ - - MDC 09541105-Fam490 - 2-generation family, affected son, unaffected carrier father M no - - - - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2097-2098del - LAMA2_000018 - PubMed: Hayashi 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MDC 11369186-Pat1 PubMed: Hayashi 2001 - F - Japan - >6y - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #2 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2097-2098del - LAMA2_000018 - PubMed: Hayashi 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MDC 11369186-Pat1 PubMed: Hayashi 2001 - F - Japan - >6y - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.2049_2050del p.Arg683Serfs*21 Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2096-2097del - LAMA2_000018 - PubMed: Pegoraro 1998, PubMed: Hayashi 2001 - - Germline - - - - - DNA, RNA PTT, SSCA, SEQ - - MDC 09674786-Pat1/Pat7 PubMed: Pegoraro 1998, PubMed: Hayashi 2001 contractures, normal white matter, open anterior opercula, seizures (generalized tonic-clonic) M - Japan - - - - - 2 Johan den Dunnen
+/. 14 c.2049_2050del r.2049_2050del p.Arg683Serfs*21 Parent #2 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2096-2097del - LAMA2_000018 - PubMed: Pegoraro 1998, PubMed: Hayashi 2001 - - Germline - - - - - DNA, RNA PTT, SSCA, SEQ - - MDC 09674786-Pat1/Pat7 PubMed: Pegoraro 1998, PubMed: Hayashi 2001 contractures, normal white matter, open anterior opercula, seizures (generalized tonic-clonic) M - Japan - - - - - 2 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2098delAG - LAMA2_000018 - PubMed: He 2001, OMIM:var0007 - - Germline - - - - - DNA SEQ, SSCA - - MDC 11591858-case3 PubMed: He 2001, OMIM:var0007 - M - France - >12y - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Paternal (confirmed) - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2098delAG ex13 - LAMA2_000018 - PubMed: Guicheney 1998 - - Germline - - - - - DNA SSCA - - MDC 09541105-Fam1272 PubMed: Guicheney 1998 2-generation family, affected daugther, unaffected carrier father F no France - - - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Paternal (confirmed) - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2098delAG ex13 - LAMA2_000018 - PubMed: Guicheney 1998 - - Germline - - - - - DNA SSCA - - MDC 09541105-Fam1672 PubMed: Guicheney 1998 2-generation family, affected son, unaffected carrier mother M no - - - - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.2049_2050del p.Arg683Serfs*21 Parent #2 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2096-2097del - LAMA2_000018 - PubMed: Pegoraro 1998 - - Germline - - - - - DNA, RNA PTT, SSCA, SEQ - - MDC 09674786-Pat14 PubMed: Pegoraro 1998 contractures fingers/elbows/knees/ankles, abnormal white matter, no seizures M - (United States) - - - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.2049_2050del p.Arg683Serfs*21 Parent #2 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2096-2097del - LAMA2_000018 - PubMed: Pegoraro 1998, PubMed: Hayashi 2001 - - Germline - - - - - DNA, RNA PTT, SSCA, SEQ - - MDC 09674786-Pat13/Pat6 PubMed: Pegoraro 1998, PubMed: Hayashi 2001 contractureselbows/ankles, abnormal white matter, no seizures M - Japan - - - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.2049_2050del p.Arg683Serfs*21 Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2096-2097del - LAMA2_000018 - PubMed: Pegoraro 1998 - - Germline - - - - - DNA, RNA PTT, SSCA, SEQ - - MDC 09674786-Pat22 PubMed: Pegoraro 1998 contractures elbows/wrists/hips/knees/ankles, abnormal white matter (hypoplastics pons.), seizures generalized tonic-clonic F - (United States) - - - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.2049_2050del p.Arg683Serfs*21 Parent #2 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2096-2097del - LAMA2_000018 - PubMed: Pegoraro 1998 - - Germline - - - - - DNA, RNA PTT, SSCA, SEQ - - MDC 09674786-Pat22 PubMed: Pegoraro 1998 contractures elbows/wrists/hips/knees/ankles, abnormal white matter (hypoplastics pons.), seizures generalized tonic-clonic F - (United States) - - - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Unknown - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - - - - Germline - - - - - DNA DHPLC - - MDC ? - - F - Ireland - - - - - 1 Patricio Brand
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Unknown - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - - - - Germline - - - - - DNA SEQ - - MDC ? - unaffected parent of affected child - - United States Hispanic - - - - 1 Tom Winder
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Unknown - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - - - - Germline - - - - - DNA SEQ - - MDC ? - - M - (United States) - - - - - 1 Tom Winder
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Paternal (inferred) - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - - - United States - - - - - 1 Tom Winder
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Maternal (inferred) - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - - - United States - - - - - 1 Tom Winder
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - F - United States - - - - - 1 Tom Winder
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat07 PubMed: Geranmayeh 2010 - F - - - >2y - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat12 PubMed: Geranmayeh 2010 - F - - - >2y10m - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat23 PubMed: Geranmayeh 2010 - M - - - >5y - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat26 PubMed: Geranmayeh 2010 - F - - - >6y - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat34 PubMed: Geranmayeh 2010 - F - - - >12y - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat47 PubMed: Geranmayeh 2010 - F - - - >10m - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #2 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat47 PubMed: Geranmayeh 2010 - F - - - >10m - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #2 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2049_2050delAG - LAMA2_000018 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - - - (United States) Hispanic - - - - 1 Tom Winder
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Paternal (inferred) - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2049_2050delAG - LAMA2_000018 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - Affected twin sister F - United States - - - - - 1 Tom Winder
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - M - United States - - - - - 1 Tom Winder
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Maternal (confirmed) - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2049_2050del2 - LAMA2_000018 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - F - United States - - - - - 1 Tom Winder
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Paternal (confirmed) - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - Affected twin sister F - United States white - - - - 1 Tom Winder
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Oliveira 2008 - - Germline - - - - - DNA SEQ - - MDC 18700894-Pat21 PubMed: Oliveira 2008 - F - Switzerland - >04y - - - 1 Rosário dos Santos
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Unknown - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2049_2050delAG - LAMA2_000018 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - M - United States - - - - - 1 Tom Winder
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #1 - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2049_2050delAG - LAMA2_000018 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - M - United States white - - - - 1 Tom Winder
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Paternal (confirmed) - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Liang 2017 - - Germline - - - - - DNA DHPLC, SEQ - - MDC 28182637-Pat21 PubMed: Liang 2017 - F - Taiwan - >18y - - - 1 Jorge Oliveira
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Paternal (confirmed) - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Yang 2015 - - Germline yes - - - - DNA PCRq, SEQ-NG-I - - MDC Pat1;Pat41 PubMed: Yang 2015, PubMed: Xiong 2014 1-generation family, 2 affecteds (2M) Brother of 25544356-Pat2, 24611677-Pat42 (00103256); probable duplicate in Tan 2021 M - China - - - - - 1 Jorge Oliveira
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Paternal (confirmed) - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Yang 2015 - - Germline yes - - - - DNA PCRq, SEQ-NG-I - - MDC Pat2;Pat42 PubMed: Yang 2015, PubMed: Xiong 2014 1-generation family, 2 affecteds (2M) Brother of 25544356-Pat2, 24611677-Pat41 (00103255); probable duplicate in Tan 2021 M - China - >00y04m - - - 1 Jorge Oliveira
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Unknown - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Løkken 2015 - - Germline - - - - - DNA SEQ - - MDC 25663498-Pat1 PubMed: Løkken 2015 - M - Denmark - >04y - - - 1 Jorge Oliveira
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Unknown - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Løkken 2015 - - Germline - - - - - DNA SEQ - - MDC 25663498-Pat2 PubMed: Løkken 2015 - M - Denmark - >11y - - - 1 Jorge Oliveira
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Paternal (confirmed) - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 probable duplicate in Tan 2021 PubMed: Xiong 2014 - - Germline - - - - - DNA SEQ - - MDC Pat10 PubMed: Xiong 2014 Sister of 24611677-Pat11 (00103664); probable duplicate in Tan 2021 F - China - >06y - - - 2 Jorge Oliveira
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Paternal (confirmed) - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 probable duplicate in Tan 2021 PubMed: Xiong 2014 - - Germline - - - - - DNA SEQ - - MDC Pat11 PubMed: Xiong 2014 Sister of patient 24611677-Pat11 (00103663); probable duplicate in Tan 2021 F - China - 00y18m - - - 1 Jorge Oliveira
+/+ 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Unknown ACMG pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Unknown ACMG likely pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - - - - Germline - - - - - DNA SEQ-NG - - MDC - - - M - - - 03y - - - 1 Corinne Metay
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Paternal (confirmed) - pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del 2049_2050delAG - LAMA2_000018 - PubMed: Wang 2019 - - Germline - 1/70 cases - - - DNA MLPA, SEQ - - BMD/DMD P63 PubMed: Wang 2019 analysis 70 unrelated MD families F - China - - - - - 1 Johan den Dunnen
+?/. - c.2049_2050del r.(?) p.(Arg683Serfs*21) Unknown - likely pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - - - DNA SEQ, SEQ-NG - gene panel CMYO4A;CFTD Pat24 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - - - - 1 Johan den Dunnen
+?/. - c.2049_2050del r.(?) p.(Arg683Serfs*21) Unknown - likely pathogenic g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683SerfsTer21) Paternal (confirmed) ACMG pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del c.2049_2050delAG - LAMA2_000018 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat8 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 family, 3 affected brothers M - China - - - - - 3 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683SerfsTer21) Paternal (confirmed) ACMG pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del c.2049_2050delAG - LAMA2_000018 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat18 PubMed: Ge 2019, PubMed: Tan 2021 family 2 affected sisters F - China - 1y6m - - - 2 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683SerfsTer21) Paternal (confirmed) ACMG pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del c.2049_2050delAG - LAMA2_000018 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat37 PubMed: Ge 2019, PubMed: Tan 2021 - M - China - 4y - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683SerfsTer21) Paternal (confirmed) ACMG pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del c.2049_2050delAG - LAMA2_000018 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat56 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 elder brother M - China - - - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683SerfsTer21) Paternal (confirmed) ACMG pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del c.2049_2050delAG - LAMA2_000018 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat104 PubMed: Ge 2019, PubMed: Tan 2021 sister F - China - - - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683SerfsTer21) Maternal (confirmed) ACMG pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del c.2049_2050delAG - LAMA2_000018 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat70 PubMed: Ge 2019, PubMed: Tan 2021 - M - China - - - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683SerfsTer21) Maternal (confirmed) ACMG pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del c.2049_2050delAG - LAMA2_000018 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat118 PubMed: Tan 2021 - F - China - - - - - 1 Johan den Dunnen
+/. - c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #1 ACMG pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Saito 2023 - - Germline - - - - - DNA SEQ - - MDC Pat1 PubMed: Saito 2023 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.2049_2050del r.(?) p.(Arg683Serfs*21) Parent #1 ACMG pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Saito 2023 - - Germline - - - - - DNA SEQ - - MDC Pat2 PubMed: Saito 2023 - F - Japan - - - - - 1 Johan den Dunnen
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Maternal (confirmed) ACMG pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - - - rs202247790 Germline - - - - - DNA SEQ-NG peripheral blood gene panel MDC1A - - index case F no Argentina - - - - - 1 María Eugenia Foncuberta
+/. 14 c.2049_2050del r.(?) p.(Arg683Serfs*21) Paternal (confirmed) ACMG pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - - - rs202247790 Germline - - - - - DNA SEQ-NG peripheral blood gene panel MDC1A - - index case M no Argentina - - - - - 1 María Eugenia Foncuberta
+?/. - c.2049_2050del r.(?) p.(Arg683SerfsTer21) Parent #1 - likely pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat3 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+?/. - c.2049_2050del r.(?) p.(Arg683SerfsTer21) Parent #1 - likely pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat7 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+?/. - c.2049_2050del r.(?) p.(Arg683SerfsTer21) Parent #1 - likely pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat16 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+?/. - c.2049_2050del r.(?) p.(Arg683SerfsTer21) Parent #1 - likely pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat20 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+?/. - c.2049_2050del r.(?) p.(Arg683SerfsTer21) Parent #1 - likely pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat36 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - c.2049_2050del r.(?) p.(Arg683SerfsTer21) Parent #1 - likely pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat53 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.2049_2050del r.(?) p.(Arg683SerfsTer21) Parent #1 - likely pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat63 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.2049_2050del r.(?) p.(Arg683SerfsTer21) Parent #1 - likely pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat71 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.2049_2050del r.(?) p.(Arg683SerfsTer21) Parent #1 - likely pathogenic (recessive) g.129573393_129573394del g.129252248_129252249del - - LAMA2_000018 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat84 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
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