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.

2835 entries on 29 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     
+/. 1i_12i c.(112+1_113-1)_(1782+1_1783-1))del r.? p.? Maternal (confirmed) ACMG pathogenic (recessive) g.(129204503_129371062)_(129513999_129571256)del - del ex2-12 - LAMA2_000766 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat72 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - M - China - - - - - 1 Johan den Dunnen
+/. 1i_9i c.(112+1_113-1)__(1306+1_1307-1)del r.? p.? Parent #2 ACMG pathogenic (recessive) g.(129204503_129371062)_(129486821_129498850)del - del ex2-9 - LAMA2_000765 - PubMed: Camelo 2023 - - Germline - - - - - DNA SEQ - - MD Pat10 PubMed: Camelo 2023 - F - Brazil - - - - - 1 Johan den Dunnen
+/. 2i_4i c.(283+1_284-1)__(639+1_640-1)del r.? p.? Parent #2 ACMG pathogenic (recessive) g.(129371234_129380928)_(129419561_129465045)del g.(129050089_129059783)_(129098416_129143900)del del ex3-4 - LAMA2_000478 - PubMed: Camelo 2023 - - Germline - - - - - DNA SEQ - - MD Pat49 PubMed: Camelo 2023 - F - Brazil - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-105)_(112+1_113-1)del r.0? p.0? Maternal (confirmed) ACMG pathogenic (recessive) g.(?_129204286)_(129204503_129371062)del g.(?_128883141)_(128883358_129049917)del del ex1 - LAMA2_000763 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat1 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 family, 3 affected (F, 2M) M - China - 3m - - - 3 Johan den Dunnen
+/. _1_1i c.(?_-105)_(112+1_113-1)del r.0? p.0? Maternal (confirmed) ACMG pathogenic (recessive) g.(?_129204286)_(129204503_129371062)del g.(?_128883141)_(128883358_129049917)del del ex1 - LAMA2_000763 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat32 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - F - China - 3y5m - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-105)_(112+1_113-1)del r.0? p.0? Maternal (confirmed) ACMG pathogenic (recessive) g.(?_129204286)_(129204503_129371062)del g.(?_128883141)_(128883358_129049917)del del ex1 - LAMA2_000763 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat2 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 elder sister F - China - 3m - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-105)_(112+1_113-1)del r.0? p.0? Maternal (confirmed) ACMG pathogenic (recessive) g.(?_129204286)_(129204503_129371062)del g.(?_128883141)_(128883358_129049917)del del ex1 - LAMA2_000763 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat3 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 elder brother M - China - 5m - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-105)_(112+1_113-1)del r.0? p.0? Parent #2 ACMG pathogenic (recessive) g.(?_129204286)_(129204503_129371062)del g.(?_128883141)_(128883358_129049917)del del ex1 - LAMA2_000763 - PubMed: Camelo 2023 - - Germline - - - - - DNA SEQ - - MD Pat33 PubMed: Camelo 2023 - M - Brazil - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-105)_(112+1_113-1)del r.0? p.0? Parent #2 ACMG pathogenic (recessive) g.(?_129204286)_(129204503_129371062)del g.(?_128883141)_(128883358_129049917)del del ex1 - LAMA2_000763 - PubMed: Camelo 2023 - - Germline - - - - - DNA SEQ - - MD Pat44 PubMed: Camelo 2023 - F - Brazil - - - - - 1 Johan den Dunnen
+?/. - с.4056dup r.(?) p.(Arg1353GlnfsTer4) Parent #1 - likely pathogenic (recessive) g.129637314dup g.129316169dup - - LAMA2_000925 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat23 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
+/. - с.79C>T r.(?) p.(Gln27Ter) Parent #2 - likely pathogenic (recessive) g.129204469C>T g.128883324C>T - - LAMA2_000912 ACMG PM2, PVS1, PP4 PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat21 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. _1_1i c.(?_-105)_(112+1_113-1)del r.0? p.0? Parent #2 - likely pathogenic (recessive) g.(?_129204286)_(129204503_129371062)del g.(?_128883141)_(128883358_129049917)del del ex1 - LAMA2_000763 - PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat49 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
?/. 1 c.-17del r.(?) p.(=) Unknown - VUS g.129204374del g.128883229del - - LAMA2_000314 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
?/? 1 c.-17del r.(?) p.(=) Unknown ACMG VUS g.129204374del g.128883229del - - LAMA2_000314 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 35i_65_ c.(5072-2432_5072-1409)_*219{0} r.? p.? Paternal (confirmed) ACMG pathogenic (recessive) g.(129710204_129711227)_(132942814_133179434)del - del ex36-65 - LAMA2_000437 - PubMed: Ding 2016, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC proband;Pat125 PubMed: Ding 2016, PubMed: Tan 2021, possibly PubMed: Ge 2018 family affected sister/brother F - China - - - - - 2 Johan den Dunnen
+/. 35i_65_ c.(5072-2432_5072-1409)_*219{0} r.? p.? Paternal (confirmed) ACMG pathogenic (recessive) g.(129710204_129711227)_(132942814_133179434)del - del ex36-65 - LAMA2_000437 - PubMed: Ding 2016, PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC ?;Pat127 PubMed: Ding 2016, PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 elder brother M - China - 14y01m - - - 1 Johan den Dunnen
+/. 58 c.? r.8076_8244del p.Pro2693_His2748delfs*12 Parent #1 - pathogenic (recessive) g.? - 8124-8293del - LAMA2_000000 unknown variant 2nd chromosome PubMed: Pegoraro 1998 - - Germline - - - - - DNA, RNA PTT, SSCA, SEQ - - MDC 09674786-Pat12 PubMed: Pegoraro 1998 contractures ankles, abnormal white matter, no seizures M - (United States) - - - - - 1 Johan den Dunnen
+/. 1 c.? r.0 p.0 Parent #1 - pathogenic (recessive) g.? - - - LAMA2_000000 - PubMed: Hayashi 1995 - - Germline - 1/40 patients - - - DNA, RNA RT-PCR - - MDC 07643867-Pat PubMed: Hayashi 1995 - F no Japan - 1y11m - - - 1 Johan den Dunnen
+/. 1 c.? r.0 p.0 Parent #2 - pathogenic (recessive) g.? - - - LAMA2_000000 - PubMed: Hayashi 1995 - - Germline - 1/40 patients - - - DNA, RNA RT-PCR - - MDC 07643867-Pat PubMed: Hayashi 1995 - F no Japan - 1y11m - - - 1 Johan den Dunnen
?/. _1_65_ c.? r.0 p.0 Parent #2 - VUS g.? - - - LAMA2_000000 allele not expressed PubMed: Tezak 2003, OMIM:var0010 - - Germline - - - - - DNA, RNA RT-PCR, DHPLC - - MDC 12552556-Pat2 PubMed: Tezak 2003, OMIM:var0010 - F - United States - >4y - - - 1 Johan den Dunnen
+/. 55i c.? r.7750_7898del p.Ala2584Hisfs*8 Parent #1 - pathogenic (recessive) g.? - r.7798-7947del - LAMA2_000000 - PubMed: Hayashi 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MDC 11369186-Pat5 PubMed: Hayashi 2001 - F - Japan - >7m - - - 1 Johan den Dunnen
+/. 55i c.? r.7750_7898del p.Ala2584Hisfs*8 Parent #2 - pathogenic (recessive) g.? - r.7798-7947del - LAMA2_000000 - PubMed: Hayashi 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MDC 11369186-Pat5 PubMed: Hayashi 2001 - F - Japan - >7m - - - 1 Johan den Dunnen
+/. 1 c.? r.0 p.0 Parent #2 - pathogenic (recessive) g.? - - - LAMA2_000000 variant in promoter? PubMed: Pegoraro 1998, PubMed: Hayashi 2001 - - Germline - - - - - DNA, RNA PTT, SSCA, SEQ - - MDC 09674786-Pat5/Pat2 PubMed: Pegoraro 1998, PubMed: Hayashi 2001 contractures wrists/ankles, abnormal white matter, no seizures M - Japan - - - - - 1 Johan den Dunnen
?/. _1_65_ c.? r.0 p.0 Parent #2 - VUS g.? - - - LAMA2_000000 allele not expressed PubMed: Tezak 2003, OMIM:var0009 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MDC 12552556-Pat1 PubMed: Tezak 2003, OMIM:var0009 - F - United States - >24y - - - 1 Johan den Dunnen
+/. _1_65_ c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat09 PubMed: Geranmayeh 2010 - F - United Kingdom (Great Britain) Ireland >2y - - - 1 Johan den Dunnen
?/. _1_65_ c.? r.? p.? Both (homozygous) - VUS g.? - - - LAMA2_000000 unknown chromosome PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat11 PubMed: Geranmayeh 2010 - F - - - >2y1m - - - 1 Johan den Dunnen
+/. _1_65_ c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat29 PubMed: Geranmayeh 2010 - F - United Kingdom (Great Britain) Ireland >6y6m - - - 1 Johan den Dunnen
+/. _1_65_ c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat36 PubMed: Geranmayeh 2010 - F - United Kingdom (Great Britain) Ireland >12y - - - 1 Johan den Dunnen
+/. _1_65_ c.? r.? p.? Both (homozygous) - pathogenic (recessive) g.? - - - LAMA2_000000 unknown variant, founder haplotype (Ireland) PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat50 PubMed: Geranmayeh 2010 - M - United Kingdom (Great Britain) Ireland >7y7m - - - 1 Johan den Dunnen
+/. 1 c.2T>C r.2u>c p.0? Parent #1 - pathogenic (recessive) g.129204392T>C g.128883247T>C T51C - LAMA2_000003 unknown variant 2nd chromosome PubMed: Pegoraro 1998, PubMed: Hayashi 2001 - - Germline - - - - - DNA, RNA PTT, SSCA, SEQ - - MDC 09674786-Pat20/Pat9 PubMed: Pegoraro 1998, PubMed: Hayashi 2001 contractures elbows/wrists/hips/knees/ankles, abnormal white matter (hypoplastics pons.), no seizures M - Japan - - - - - 1 Johan den Dunnen
+/. 1 c.2T>C r.(?) p.0? Unknown - pathogenic (recessive) g.129204392T>C g.128883247T>C - - LAMA2_000003 - - - - Germline - - - - - DNA SEQ - - MDC ? - - M - United States - - - - - 1 Tom Winder
+?/. 1 c.2T>C r.(?) p.0? Unknown - likely pathogenic (recessive) g.129204392T>C g.128883247T>C - - LAMA2_000003 - - - - Germline - - - - - DNA SEQ - - MDC ? - - M - United States - - - - - 1 Tom Winder
+?/. 1 c.2T>C r.(?) p.0? Maternal (confirmed) - likely pathogenic (recessive) g.129204392T>C g.128883247T>C (Met1Thr) - LAMA2_000003 - - - - Germline - - - - - DNA SEQ - - MDC ? - - M - (United States) - - - - - 1 Tom Winder
+/. 1 c.2T>C r.(?) p.0? Parent #1 - pathogenic (recessive) g.129204392T>C g.128883247T>C Met1Thr - LAMA2_000003 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - - - United States - - - - - 1 Tom Winder
+/+ 1 c.2T>C r.(?) p.0? Unknown ACMG pathogenic (recessive) g.129204392T>C g.128883247T>C - - LAMA2_000003 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3dup r.(?) p.(Pro2AlafsTer48) Parent #1 - likely pathogenic (recessive) g.129204393dup g.128883248dup - - LAMA2_000911 ACMG PM2, PVS1 PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat10 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
-?/. - c.13G>A r.(?) p.(Ala5Thr) Unknown - likely benign g.129204403G>A g.128883258G>A LAMA2(NM_000426.3):c.13G>A (p.(Ala5Thr)) - LAMA2_000576 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.32T>C r.(?) p.(Leu11Pro) Unknown - VUS g.129204422T>C g.128883277T>C - - LAMA2_000482 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - Germline - - - - - DNA SEQ - - MD - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - - Portugal - - - - - 1 Jorge Oliveira
?/? 1 c.32T>C r.(?) p.(Leu11Pro) Unknown ACMG VUS g.129204422T>C g.128883277T>C - - LAMA2_000482 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.35T>G r.(?) p.(Leu12Arg) Unknown - VUS g.129204425T>G g.128883280T>G - - LAMA2_000190 - - - - Germline - - - - - DNA SEQ - - MDC ? - - F - United States - - - - - 1 Tom Winder
+/. 1 c.35T>G r.(?) p.(Leu12Arg) Unknown - pathogenic (recessive) g.129204425T>G g.128883280T>G - - LAMA2_000190 - PubMed: Løkken 2015 - - Germline - - - - - DNA SEQ - - LGMD 25663498-Pat7 PubMed: Løkken 2015 - F - Denmark - >32y - - - 1 Jorge Oliveira
+/+ 1 c.35T>G r.(?) p.(Leu12Arg) Unknown ACMG pathogenic (recessive) g.129204425T>G g.128883280T>G - - LAMA2_000190 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.47del r.(?) p.(Gly16Alafs*29) Paternal (confirmed) - likely pathogenic (recessive) g.129204437del g.128883292del - - LAMA2_000230 - - - - Germline - - - - - DNA SEQ - - MDC ? - - M - (United States) - - - - - 1 Tom Winder
+/+ 1 c.47del r.(?) p.(Gly16Alafs*29) Unknown ACMG pathogenic (recessive) g.129204437del g.128883292del - - LAMA2_000230 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.54_64del r.(?) p.(Gly19AlafsTer27) Unknown - pathogenic g.129204444_129204454del g.128883299_128883309del LAMA2(NM_000426.4):c.54_64delGGGCGTACAGG (p.G19Afs*27) - LAMA2_000577 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.56dup r.(?) p.(Val20ArgfsTer30) Maternal (confirmed) ACMG pathogenic (recessive) g.129204446dup g.128883301dup c.56dupG - LAMA2_000764 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat51 PubMed: Ge 2019, PubMed: Tan 2021 family affected brother/sister F - China - - - - - 2 Johan den Dunnen
+/. 1 c.56dup r.(?) p.(Val20ArgfsTer30) Maternal (confirmed) ACMG pathogenic (recessive) g.129204446dup g.128883301dup c.56dupG - LAMA2_000764 - PubMed: Ge 2019, PubMed: Tan 2021 - - Germline - - - - - DNA SEQ - - MDC Pat81 PubMed: Ge 2019, PubMed: Tan 2021 brother M - China - - - - - 1 Johan den Dunnen
+/+ 1 c.67_71del r.(?) p.(Gln23Alafs*25) Unknown ACMG pathogenic (recessive) g.129204457_129204461del g.128883312_128883316del - - LAMA2_000539 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.74C>T r.(?) p.(Pro25Leu) Unknown - likely benign g.129204464C>T g.128883319C>T LAMA2(NM_000426.3):c.74C>T (p.(Pro25Leu)) - LAMA2_000578 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.82C>T r.82c>u p.Gln28* Parent #1 - pathogenic (recessive) g.129204472C>T g.128883327C>T C131T - LAMA2_000004 unknown variant 2nd chromosome PubMed: Pegoraro 1998 - - Germline - - - - - DNA, RNA PTT, SEQ, SSCA - - MDC 09674786-Pat18 PubMed: Pegoraro 1998 - M - (United States) - 9y - - - 1 Johan den Dunnen
+/+ 1 c.82C>T r.(?) p.(Gln28*) Unknown ACMG pathogenic (recessive) g.129204472C>T g.128883327C>T - - LAMA2_000004 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.94C>T r.(?) p.(Gln32*) Unknown - likely pathogenic (recessive) g.129204484C>T g.128883339C>T - - LAMA2_000205 - - - - Germline - - - - - DNA SEQ - - MDC ? - - F - Canada - - - - - 1 Tom Winder
+/. 1 c.94C>T r.(?) p.(Gln32Ter) Unknown - pathogenic g.129204484C>T g.128883339C>T - - LAMA2_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.94C>T r.(?) p.(Gln32*) Unknown ACMG likely pathogenic (recessive) g.129204484C>T g.128883339C>T - - LAMA2_000205 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.106C>T r.(?) p.(Gln36Ter) Parent #1 - likely pathogenic (recessive) g.129204496C>T g.128883351C>T - - LAMA2_000913 ACMG PM2, PVS1 PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat72 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
?/. 1 c.112G>A r.(?)^r.(spl?) p.(Gly38Ser)^p.? Both (homozygous) - VUS g.129204502G>A g.128883357G>A - - LAMA2_000309 - - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - M - Saudi Arabia Arab - - - - 1 Tom Winder
?/? 1 c.112G>A r.spl? p.(Gly38Ser) Unknown ACMG VUS g.129204502G>A g.128883357G>A - - LAMA2_000309 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.112G>T r.spl? p.(Gly38Cys) Unknown ACMG VUS g.129204502G>T g.128883357G>T - - LAMA2_000540 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.112+1G>A r.spl? p.? Parent #1 - pathogenic (recessive) g.129204503G>A g.128883358G>A - - LAMA2_000260 - PubMed: Geranmayeh 2010 - - Germline - - - - - DNA SEQ - - MDC 20207543-Pat24 PubMed: Geranmayeh 2010 - F - - - >5y6m - - - 1 Johan den Dunnen
?/. 1i c.112+1G>A r.spl? p.? Unknown - VUS g.129204503G>A g.128883358G>A - - LAMA2_000260 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
+/. 1i c.112+1G>A r.spl? p.? Unknown - pathogenic (recessive) g.129204503G>A g.128883358G>A - - LAMA2_000260 - - - - Germline - - - - - DNA arrayCGH, SEQ, SEQ-NG - - MDC ? - 2-generation family, 1 affected F no (United States) white - - - - 1 Vikki Stefans
+/+ 1i c.112+1G>A r.spl p.? Unknown ACMG pathogenic (recessive) g.129204503G>A g.128883358G>A - - LAMA2_000260 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.(112+1_113-1)? r.[112_113ins112+1_112+75{?}] p.(fs*) Paternal (inferred) - pathogenic (recessive) g.(129204503_129371062)? - 162ins75 - LAMA2_000006 - PubMed: Hayashi 1997 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MDC 09113020_Pat PubMed: Hayashi 1997 - M - Japan - >41y - - - 1 Johan den Dunnen
+/. 1i c.112+3A>G r.(spl?) p.? Parent #1 - pathogenic (recessive) g.129204505A>G g.128883360A>G 161+3A>G - LAMA2_000084 unknown variant 2nd chromosome PubMed: Allamand 2002 - - Germline - - - - - DNA SEQ - - MDC 11938437-pat? PubMed: Allamand 2002 - - - (France) - - - - - 1 Johan den Dunnen
+/+ 1i c.112+3A>G r.spl? p.? Unknown ACMG pathogenic (recessive) g.129204505A>G g.128883360A>G - - LAMA2_000084 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.112+43141C>G - - Paternal (confirmed) - likely pathogenic (dominant) g.129247643C>G g.129528800C>G RHO CCC to GCC, Pro23Ala - RHO_000274 heterozygous; no nucleotide annotation, extrapolated from protein and databases PubMed: Oh 2000 - - Germline yes - - - - DNA SSCA, SEQ blood - retinal disease III:3 PubMed: Oh 2000 no individual ID, only number of individuals with the mutation; mutation report M - United States - - - - - 1 LOVD
+?/. - c.112+43247C>G - - Unknown - likely pathogenic (dominant) g.129247749C>G g.129528906C>G RHO T58R - RHO_000130 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 9_P3 PubMed: Aleman 2008 - F - United States - - - - - 1 LOVD
+?/. - c.112+45258C>T - - Unknown - likely pathogenic (dominant) g.129249760C>T g.129530917C>T RHO R135W - RHO_000001 heterozygous PubMed: Aleman 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 2_P1 PubMed: Aleman 2008 - M - United States - - - - - 1 LOVD
+?/. - c.112+47114G>T r.(=) p.(=) Paternal (confirmed) - likely pathogenic (dominant) g.129251616G>T g.129532773G>T guanosine 4335-to thymidine, GT to TT at the donor splice junction of intron 7 - RHO_000144 heterozygous PubMed: Macke_1993 - - Germline yes - - - - DNA DGGE blood - retinal disease HS461-4 PubMed: Macke_1993 - F - United States - - - - - 1 LOVD
+?/. 1i_12i c.(112+1_113-50)_(1782+50_1783-1)dup r.? p.? Unknown ACMG likely pathogenic (recessive) g.(129204503_129371013)_(129514048_129571256)dup g.(128883358_129049868)_(129192903_129250111)dup NGS del ex2-12 - LAMA2_000850 ACMG: PVS1_STR, PM3, PM2_SUP PubMed: Ge 2019, Tan 2021 - - Germline ? - - - - DNA SEQ-NG-I - - MDC1A 212733 - - M no Germany - - - - - 1 Andreas Laner
+/. 1i_3i c.(112+1_113-1)_(396+1_397-1)del r.(del?) p.(fs*?) Paternal (confirmed) - pathogenic (recessive) g.(129204503_129371062)_(129381042_129419317)del - - - LAMA2_000460 probable duplicate in Tan 2021 PubMed: Xiong 2014 - - Germline - - - - - DNA MLPA, SEQ - - MDC Pat15 PubMed: Xiong 2014 Sister of patient 24611677-Pat15 (00103669); probable duplicate in Tan 2021 F - China Uyghur >05y - - - 1 Jorge Oliveira
+/. 1i_3i c.(112+1_113-1)_(396+1_397-1)del r.(del?) p.(fs*?) Paternal (confirmed) - pathogenic (recessive) g.(129204503_129371062)_(129381042_129419317)del - - - LAMA2_000460 probable duplicate in Tan 2021 PubMed: Xiong 2014 - - Germline - - - - - DNA MLPA, SEQ - - MDC Pat16 PubMed: Xiong 2014 Sister of patient 24611677-Pat15 (00103668); probable duplicate in Tan 2021 F - China - 13y - - - 1 Jorge Oliveira
+/+ 1i_3i c.(112+1_113-1)_(396+1_397-1)del r.spl p.? Unknown ACMG pathogenic (recessive) g.(129204503_129371062)_(129381042_129419317)del - - - LAMA2_000460 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_3i c.(112+1_113-1)_(396+1_397-1)del r.? p.? Paternal (confirmed) ACMG pathogenic (recessive) g.(129204503_129371062)_(129381042_129419317)del - del ex2-3 - LAMA2_000460 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat95 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 family, 2 affected sisters F - China Uighur - - - - 2 Johan den Dunnen
+/. 1i_3i c.(112+1_113-1)_(396+1_397-1)del r.? p.? Paternal (confirmed) ACMG pathogenic (recessive) g.(129204503_129371062)_(129381042_129419317)del - del ex2-3 - LAMA2_000460 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat97 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 sister F - China Uighur 13y - - - 1 Johan den Dunnen
+/. 1i_9i c.(112+1_113-1)_(1306+1_1307-1)del r.? p.? Paternal (confirmed) ACMG pathogenic (recessive) g.(129204503_129371062)_(129486821_129498850)del - del ex2-9 - LAMA2_000765 - PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 - - Germline - - - - - DNA SEQ - - MDC Pat78 PubMed: Ge 2019, PubMed: Tan 2021, possibly PubMed: Ge 2018 cousin M - China - - - - - 1 Johan den Dunnen
?/. 2 c.149C>T r.(?) p.(Ala50Val) Unknown - VUS g.129371099C>T g.129049954C>T - - LAMA2_000541 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.149C>T r.(?) p.(Ala50Val) Unknown ACMG VUS g.129371099C>T g.129049954C>T - - LAMA2_000541 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.156C>T r.(?) p.(=) Unknown - benign g.129371106C>T g.129049961C>T - - LAMA2_000153 - - - rs1140366 Germline - - - - - DNA SEQ - - Healthy/Control ? - - - - Portugal - - - - - 1 Rosário dos Santos
-/. 2 c.156C>T r.(?) p.(=) Unknown - benign g.129371106C>T g.129049961C>T I521I - LAMA2_000153 - PubMed: Di Blasi 2005 - rs1140366 Germline - 0.19 - - - DNA SEQ - - MDC 16216942-con PubMed: Di Blasi 2005 - - no Italy - - - - - 1 Johan den Dunnen
-/. 2 c.156C>T r.(?) p.(=) Unknown - benign g.129371106C>T g.129049961C>T - - LAMA2_000153 - from website {DBsub-Emory} - rs1140366 Germline - - - - - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
-/. 2 c.156C>T r.(?) p.(Ile52=) Unknown - benign g.129371106C>T g.129049961C>T LAMA2(NM_000426.4):c.156C>T (p.I52=) - LAMA2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.156C>T r.(?) p.(Ile52=) Unknown - benign g.129371106C>T g.129049961C>T LAMA2(NM_000426.4):c.156C>T (p.I52=) - LAMA2_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2 c.156C>T r.(?) p.(=) Unknown ACMG benign g.129371106C>T g.129049961C>T - - LAMA2_000153 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.163A>C r.(?) p.(Asn55His) Parent #1 - likely pathogenic (recessive) g.129371113A>C g.129049968A>C - - LAMA2_000914 ACMG PM2, PP3, PM3, PP4 PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat88 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+/. - c.163A>C r.(?) p.(Asn55His) Parent #2 - likely pathogenic (recessive) g.129371113A>C g.129049968A>C - - LAMA2_000914 ACMG PM2, PP3, PM3, PP4 PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat86 PubMed: Chausova 2025, Journal: Chausova 2025 patient M - Russia - - - - - 1 Johan den Dunnen
+?/. 2 c.164del r.(?) p.(Asn55Metfs*16) Parent #1 - likely pathogenic (recessive) g.129371114del g.129049969del - - LAMA2_000232 unknown variant 2nd chromosome - - - Germline - - - - - DNA PCR, SEQ - - MDC ? - - M - Canada French Canadian - - - - 1 Tom Winder
+?/+? 2 c.164del r.(?) p.(Asn55Metfs*16) Unknown ACMG likely pathogenic (recessive) g.129371114del g.129049969del - - LAMA2_000232 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.164del r.(?) p.(Asn55Metfs*16) Both (homozygous) ACMG pathogenic g.129371114del g.129049969del c.164delA - LAMA2_000232 ACMG PVS1, PM2, PP3 PubMed: Özyilmaz 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - CMD gene panel MDC Pat34 PubMed: Özyilmaz 2019 - M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.172T>C r.(?) p.(Cys58Arg) Parent #1 - likely pathogenic (recessive) g.129371122T>C g.129049977T>C - - LAMA2_000915 ACMG PM2, PP3, PM3, PP4 PubMed: Chausova 2025, Journal: Chausova 2025 - - Germline - - - - - DNA SEQ, SEQ-NG peripheral blood lymphocytes - MD Pat85 PubMed: Chausova 2025, Journal: Chausova 2025 patient F - Russia - - - - - 1 Johan den Dunnen
?/. 2 c.176G>A r.(?) p.(Gly59Glu) Parent #1 - VUS g.129371126G>A g.129049981G>A - - LAMA2_000709 - PubMed: Ganapathy 2019 - rs748303070 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-4928 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. 2 c.184G>T r.(?) p.(Gly62*) Unknown - VUS g.129371134G>T g.129049989G>T - - LAMA2_000315 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - ? Emory-? from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
+?/+? 2 c.184G>T r.(?) p.(Gly62*) Unknown ACMG likely pathogenic (recessive) g.129371134G>T g.129049989G>T - - LAMA2_000315 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.184G>T r.(?) p.(Gly62*) Parent #1 - pathogenic (recessive) g.129371134G>T g.129049989G>T - - LAMA2_000315 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398123368 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.236G>A r.(?) p.(Arg79Lys) Unknown - VUS g.129371186G>A - LAMA2(NM_000426.4):c.236G>A (p.R79K) - LAMA2_000726 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.236G>A r.(?) p.(Arg79Lys) Unknown - VUS g.129371186G>A - LAMA2(NM_000426.4):c.236G>A (p.R79K) - LAMA2_000726 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.245A>T r.(?) p.(Gln82Leu) Unknown ACMG VUS g.129371195A>T g.129050050A>T - - LAMA2_000491 PolyPhen-2 score 0.99 (probably pathogenic) - - - Germline ? - - - - DNA SEQ - - MDC 84038 - - F ? Germany - - - - - 1 Andreas Laner
?/? 2 c.245A>T r.(?) p.(Gln82Leu) Unknown ACMG VUS g.129371195A>T g.129050050A>T - - LAMA2_000491 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.(247T>C) r.(247u>c) p.Cys83Arg Both (homozygous) - pathogenic (recessive) g.129371197T>C g.129050052T>C - - LAMA2_000413 animal model PubMed: Patton 2008 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MDC ? PubMed: Patton 2008 nmf417 mouse model - - - - - - - - 1 Johan den Dunnen
+/+ 2 c.(247T>C) r.(?) p.(Cys83Arg) Unknown ACMG pathogenic (recessive) g.129371197T>C g.129050052T>C - - LAMA2_000413 - PubMed: Oliveira 2018, Journal: Oliveira 2018 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
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