Full data view for gene PLEC

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

1075 entries on 11 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.? r.(?) p.? Parent #1 - VUS g.? - 7136C>T (T2388M) - RP1_000000 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - c.13192G>A - RP1_000000 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat282 PubMed: Xie 2024 patient F - China - - - - not treated 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - c.9940T>A - RP1_000000 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat283 PubMed: Xie 2024 patient M - China - - - - not treated 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #2 - pathogenic g.? - c.6428C>T - RP1_000000 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat282 PubMed: Xie 2024 patient F - China - - - - not treated 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #2 - pathogenic g.? - c.5995C>T - RP1_000000 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat283 PubMed: Xie 2024 patient M - China - - - - not treated 1 Johan den Dunnen
?/. - c.26G>A r.(?) p.(Arg9Gln) Unknown - VUS g.145049512C>T g.143975344C>T PLEC(NM_000445.3):c.26G>A (p.(Arg9Gln)) - PLEC_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.115A>G r.(?) p.(Ser39Gly) Unknown - likely benign g.145049423T>C g.143975255T>C PLEC(NM_000445.3):c.115A>G (p.(Ser39Gly)) - PARP10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.148G>T r.(?) p.(Gly50Trp) Unknown - VUS g.145049390C>A g.143975222C>A PLEC(NM_000445.3):c.148G>T (p.(Gly50Trp)) - PLEC_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.164C>A r.(?) p.(Pro55Gln) Parent #1 - VUS g.145049374G>T g.143975206G>T - - PLEC_000384 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2i c.193+1705_193+1713del r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.145047638_145047646del g.143973470_143973478del 1_9del - PLEC_000001 mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype PubMed: Gundesli 2010 - - Germline - - - - - DNA SEQ - - LGMD 21109228-Fam1.V1 PubMed: Gundesli 2010 6-generation family, 4 affecteds F - Turkey - - - - - 2 Johan den Dunnen
+/. 2i c.193+1705_193+1713del r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.145047638_145047646del g.143973470_143973478del 1_9del - PLEC_000001 mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype PubMed: Gundesli 2010 - - Germline - - - - - DNA SEQ - - LGMD 21109228-Fam1.V2 PubMed: Gundesli 2010 6-generation family, 4 affecteds F - Turkey - - - - - 2 Johan den Dunnen
+/. 2i c.193+1705_193+1713del r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.145047638_145047646del g.143973470_143973478del 1_9del - PLEC_000001 mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype PubMed: Gundesli 2010 - - Germline - - - - - DNA SEQ - - LGMD 21109228-Fam1.V3 PubMed: Gundesli 2010 6-generation family, 4 affecteds M - Turkey - - - - - 2 Johan den Dunnen
+/. 2i c.193+1705_193+1713del r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.145047638_145047646del g.143973470_143973478del 1_9del - PLEC_000001 mapped by linkage, homozygous 3.7 Mb region; not in 342 control chromosomes; founder haplotype; muscle RNA <0.01 PubMed: Gundesli 2010 - - Germline - - - - - DNA SEQ - - LGMD 21109228-Fam1.V1.1 PubMed: Gundesli 2010 6-generation family, 4 affecteds M - Turkey - - - - - 2 Johan den Dunnen
+/. 2i c.193+1705_193+1713del r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.145047638_145047646del g.143973470_143973478del 1_9del - PLEC_000001 not in 342 control chromosomes; founder haplotype PubMed: Gundesli 2010 - - Germline - - - - - DNA SEQ - - LGMD 21109228-Fam2.P20 PubMed: Gundesli 2010 paternal aunt with LGMD M - Turkey - - - - - 2 Johan den Dunnen
+/. 2i c.193+1705_193+1713del r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.145047638_145047646del g.143973470_143973478del 1_9del - PLEC_000001 not in 342 control chromosomes; founder haplotype PubMed: Gundesli 2010 - - Germline - - - - - DNA SEQ - - LGMD 21109228-Fam3.P47 PubMed: Gundesli 2010 consanguineous parents, 2nd cousins, M yes Turkey - - - - - 2 Johan den Dunnen
?/. - c.193+1735_193+1737del r.(=) p.(=) Unknown - VUS g.145047609_145047611del g.143973441_143973443del PLEC(NM_201378.4):c.31_33delTTC (p.F11del) - PLEC_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-11924C>T r.(=) p.(=) Unknown - likely benign g.145024784G>A g.143950616G>A PLEC(NM_201380.3):c.91C>T (p.R31W) - PLEC_000562 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-11923G>A r.(=) p.(=) Unknown - likely benign g.145024783C>T g.143950615C>T PLEC(NM_201380.3):c.92G>A (p.R31Q), PLEC(NM_201380.4):c.92G>A (p.R31Q) - PLEC_000578 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-11923G>A r.(=) p.(=) Unknown - likely benign g.145024783C>T - PLEC(NM_201380.3):c.92G>A (p.R31Q), PLEC(NM_201380.4):c.92G>A (p.R31Q) - PLEC_000578 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194-11888G>A r.(=) p.(=) Unknown - VUS g.145024748C>T - PLEC(NM_000445.5):c.194-11888G>A - PLEC_000608 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194-11874G>A r.(=) p.(=) Unknown - VUS g.145024734C>T - PLEC(NM_201380.2):c.141G>A (p.(=)) - PLEC_000646 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-11849C>T r.(=) p.(=) Unknown - likely benign g.145024709G>A g.143950541G>A PLEC(NM_201380.4):c.166C>T (p.R56W) - PLEC_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194-11843C>T r.(=) p.(=) Unknown - VUS g.145024703G>A - PLEC(NM_201380.4):c.172C>T (p.(Arg58Trp)) - PLEC_000793 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-11777G>A r.(=) p.(=) Unknown - likely benign g.145024637C>T - PLEC(NM_201380.3):c.238G>A (p.A80T) - PLEC_000607 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-11768C>T r.(=) p.(=) Unknown - likely benign g.145024628G>A - PLEC(NM_201380.4):c.247C>T (p.R83C) - PLEC_000764 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194-11719G>A r.(=) p.(=) Unknown - VUS g.145024579C>T - PLEC(NM_201380.4):c.296G>A (p.(Arg99His)) - PLEC_000792 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.194-11718C>T r.(=) p.(=) Unknown - benign g.145024578G>A g.143950410G>A PLEC(NM_201380.2):c.297C>T (p.(Arg99=)), PLEC(NM_201380.4):c.297C>T (p.R99=) - PLEC_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.194-11718C>T r.(=) p.(=) Unknown - benign g.145024578G>A g.143950410G>A PLEC(NM_201380.2):c.297C>T (p.(Arg99=)), PLEC(NM_201380.4):c.297C>T (p.R99=) - PLEC_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-11718C>T r.(=) p.(=) Unknown - likely benign g.145024578G>A g.143950410G>A PLEC(NM_201380.2):c.297C>T (p.(Arg99=)), PLEC(NM_201380.4):c.297C>T (p.R99=) - PLEC_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194-11711C>T r.(=) p.(=) Unknown - VUS g.145024571G>A - PLEC(NM_201380.2):c.304C>T (p.(Arg102Cys)) - PLEC_000826 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-11710G>A r.(=) p.(=) Unknown - likely benign g.145024570C>T - PLEC(NM_201380.2):c.305G>A (p.(Arg102His)), PLEC(NM_201380.4):c.305G>A (p.R102H) - PLEC_000751 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-11710G>A r.(=) p.(=) Unknown - likely benign g.145024570C>T - PLEC(NM_201380.2):c.305G>A (p.(Arg102His)), PLEC(NM_201380.4):c.305G>A (p.R102H) - PLEC_000751 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194-11710G>T r.(=) p.(=) Unknown - VUS g.145024570C>A g.143950402C>A PLEC(NM_201380.2):c.305G>T (p.(Arg102Leu)), PLEC(NM_201380.3):c.305G>T (p.R102L), PLEC(NM_201380.4):c.305G>T (p.R102L) - PLEC_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194-11710G>T r.(=) p.(=) Unknown - VUS g.145024570C>A g.143950402C>A PLEC(NM_201380.2):c.305G>T (p.(Arg102Leu)), PLEC(NM_201380.3):c.305G>T (p.R102L), PLEC(NM_201380.4):c.305G>T (p.R102L) - PLEC_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-11710G>T r.(=) p.(=) Unknown - likely benign g.145024570C>A - PLEC(NM_201380.2):c.305G>T (p.(Arg102Leu)), PLEC(NM_201380.3):c.305G>T (p.R102L), PLEC(NM_201380.4):c.305G>T (p.R102L) - PLEC_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194-11687G>T r.(=) p.(=) Unknown - VUS g.145024547C>A - PLEC(NM_201380.4):c.328G>T (p.(Ala110Ser)) - PLEC_000791 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-11618C>T r.(=) p.(=) Unknown - likely benign g.145024478G>A g.143950310G>A PLEC(NM_201380.3):c.397C>T (p.P133S) - PLEC_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-11599T>C r.(=) p.(=) Unknown - likely benign g.145024459A>G g.143950291A>G PLEC(NM_201380.2):c.416T>C (p.(Val139Ala)), PLEC(NM_201380.4):c.416T>C (p.V139A) - PLEC_000538 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194-11599T>C r.(=) p.(=) Unknown - VUS g.145024459A>G - PLEC(NM_201380.2):c.416T>C (p.(Val139Ala)), PLEC(NM_201380.4):c.416T>C (p.V139A) - PLEC_000538 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-11577G>A r.(=) p.(=) Unknown - likely benign g.145024437C>T g.143950269C>T PLEC(NM_201380.3):c.438G>A (p.E146=) - PLEC_000561 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-11519C>T r.(=) p.(=) Unknown - likely benign g.145024379G>A g.143950211G>A PLEC(NM_201380.3):c.496C>T (p.P166S) - PLEC_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.194-11512C>T r.(=) p.(=) Unknown - benign g.145024372G>A g.143950204G>A PLEC(NM_201380.3):c.503C>T (p.P168L) - PLEC_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194-5278C>T r.(=) p.(=) Unknown - VUS g.145018138G>A - PLEC(NM_201382.4):c.-80C>T - PLEC_000790 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-5151C>T r.(=) p.(=) Unknown - likely benign g.145018011G>A - PLEC(NM_201382.3):c.48C>T (p.H16=) - PLEC_000621 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194-5135G>A r.(=) p.(=) Unknown - VUS g.145017995C>T - PLEC(NM_000445.5):c.194-5135G>A - PLEC_000606 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-5080C>T r.(=) p.(=) Unknown - likely benign g.145017940G>A - PLEC(NM_201382.4):c.112+7C>T - PLEC_000869 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-5077G>A r.(=) p.(=) Unknown - likely benign g.145017937C>T - PLEC(NM_201382.4):c.112+10G>A - PLEC_000789 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-5077G>T r.(=) p.(=) Unknown - likely benign g.145017937C>A - PLEC(NM_201382.2):c.112+10G>T (p.(=)) - PLEC_000718 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-3797C>G r.(=) p.(=) Unknown - likely benign g.145016657G>C g.143942489G>C PLEC(NM_201383.1):c.27C>G (p.(Ala9=)), PLEC(NM_201383.3):c.27C>G (p.A9=) - PLEC_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-3797C>G r.(=) p.(=) Unknown - likely benign g.145016657G>C - PLEC(NM_201383.1):c.27C>G (p.(Ala9=)), PLEC(NM_201383.3):c.27C>G (p.A9=) - PLEC_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194-3771G>A r.(=) p.(=) Unknown - VUS g.145016631C>T g.143942463C>T PLEC R18Q - PLEC_000752 - PubMed: Miszalski-Jamka 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - LVNC Pat150 PubMed: Miszalski-Jamka 2017 case solved - - - - - - - - 1 Johan den Dunnen
?/. - c.194-3718C>A r.(=) p.(=) Unknown - VUS g.145016578G>T - PLEC(NM_201383.1):c.106C>A (p.(Gln36Lys)) - PLEC_000825 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-3711_194-3650del r.(=) p.(=) Unknown - likely benign g.145016511_145016572del g.143942343_143942404del PLEC(NM_000445.3):c.194-3711_194-3650del (p.?) - PLEC_000537 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-3699G>A r.(=) p.(=) Unknown - likely benign g.145016559C>T - PLEC(NM_201383.1):c.124+1G>A (p.?) - PLEC_000868 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-737C>T r.(=) p.(=) Unknown - likely benign g.145013597G>A - PLEC(NM_201384.1):c.33C>T (p.(=)) - PLEC_000645 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-732G>C r.(=) p.(=) Unknown - likely benign g.145013592C>G - PLEC(NM_201384.2):c.38G>C (p.G13A) - PLEC_000717 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.194-724C>T r.(=) p.(=) Unknown - pathogenic g.145013584G>A - PLEC(NM_000445.5):c.194-724C>T - PLEC_000750 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-723G>A r.(=) p.(=) Unknown - likely benign g.145013583C>T g.143939415C>T PLEC(NM_000445.3):c.194-723G>A (p.(=)), PLEC(NM_201384.2):c.47G>A (p.R16Q) - PLEC_000536 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-723G>A r.(=) p.(=) Unknown - likely benign g.145013583C>T - PLEC(NM_000445.3):c.194-723G>A (p.(=)), PLEC(NM_201384.2):c.47G>A (p.R16Q) - PLEC_000536 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-712A>G r.(=) p.(=) Unknown - likely benign g.145013572T>C g.143939404T>C PLEC(NM_201384.1):c.58A>G (p.(Ser20Gly)), PLEC(NM_201384.2):c.58A>G (p.S20G) - PLEC_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194-712A>G r.(=) p.(=) Unknown - likely benign g.145013572T>C - PLEC(NM_201384.1):c.58A>G (p.(Ser20Gly)), PLEC(NM_201384.2):c.58A>G (p.S20G) - PLEC_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.194-708C>T r.(=) p.(=) Unknown - VUS g.145013568G>A g.143939400G>A PLEC(NM_201384.2):c.62C>T (p.S21L) - PLEC_000535 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.255+10del r.(=) p.(=) Unknown - likely benign g.145012789del g.143938621del PLEC(NM_000445.3):c.255+10delG (p.(=)), PLEC(NM_201380.3):c.585+10delG - PLEC_000534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.255+10del r.(=) p.(=) Unknown - likely benign g.145012789del g.143938621del PLEC(NM_000445.3):c.255+10delG (p.(=)), PLEC(NM_201380.3):c.585+10delG - PLEC_000534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.255+10G>A r.(=) p.(=) Unknown - likely benign g.145012789C>T g.143938621C>T PLEC(NM_000445.3):c.255+10G>A (p.(=)) - PLEC_000533 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.255+22G>C r.(?) p.(=) Unknown - benign g.145012777C>G g.143938609C>G - - PLEC_000002 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.346-16C>G r.(=) p.(=) Unknown - benign g.145011426G>C g.143937258G>C PLEC(NM_000445.3):c.346-16C>G (p.(=)), PLEC(NM_201380.4):c.676-16C>G - PLEC_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.346-16C>G r.(=) p.(=) Unknown - likely benign g.145011426G>C g.143937258G>C PLEC(NM_000445.3):c.346-16C>G (p.(=)), PLEC(NM_201380.4):c.676-16C>G - PLEC_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.413G>A r.(?) p.(Arg138Gln) Unknown - VUS g.145011343C>T g.143937175C>T PLEC(NM_201380.3):c.743G>A (p.R248Q) - PLEC_000531 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.423+13G>A r.(=) p.(=) Unknown - benign g.145011320C>T g.143937152C>T PLEC(NM_000445.3):c.423+13G>A (p.(=)), PLEC(NM_201380.4):c.753+13G>A - PLEC_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.423+13G>A r.(=) p.(=) Unknown - likely benign g.145011320C>T g.143937152C>T PLEC(NM_000445.3):c.423+13G>A (p.(=)), PLEC(NM_201380.4):c.753+13G>A - PLEC_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.447T>C r.(?) p.(=) Unknown - benign g.145011216A>G - PLEC(NM_201384.3):c.366T>C (p.(Asn122=)) - PLEC_000867 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.459T>C r.(?) p.(Ala153=) Unknown - benign g.145011204A>G g.143937036A>G PLEC(NM_201380.4):c.789T>C (p.A263=) - PLEC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 6 c.459T>C r.(?) p.(=) Unknown - benign g.145011204A>G g.143937036A>G - - PLEC_000003 - from website {DBsub-Emory} - - Unknown - - - - - DNA SEQ - - ? - from website {DBsub-Emory} - - - (United States) - - - - - 1 Madhuri Hegde
-/. - c.459T>G r.(?) p.(Ala153=) Unknown - benign g.145011204A>C g.143937036A>C PLEC(NM_201380.3):c.789T>G (p.A263=), PLEC(NM_201380.4):c.789T>G (p.A263=) - PLEC_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.459T>G r.(?) p.(Ala153=) Unknown - likely benign g.145011204A>C - PLEC(NM_201380.3):c.789T>G (p.A263=), PLEC(NM_201380.4):c.789T>G (p.A263=) - PLEC_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.459T>G r.(?) p.(Ala153=) Unknown - likely benign g.145011204A>C - PLEC(NM_201380.3):c.789T>G (p.A263=), PLEC(NM_201380.4):c.789T>G (p.A263=) - PLEC_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.616C>T r.(?) p.(Arg206*) Unknown - pathogenic g.145010083G>A - PLEC(NM_201384.1):c.535C>T (p.(Arg179*)) - PLEC_000716 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.616C>T r.(?) p.(Arg206*) Unknown - VUS g.145010083G>A - PLEC(NM_201384.1):c.535C>T (p.(Arg179*)) - PLEC_000716 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.683+5A>G r.spl? p.? Unknown - likely benign g.145010011T>C - PLEC(NM_000445.5):c.683+5A>G - PLEC_000644 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.683+17G>A r.(=) p.(=) Unknown - likely benign g.145009999C>T - PLEC(NM_201380.4):c.1013+17G>A - PLEC_000824 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.684-3C>T r.spl? p.? Unknown - likely benign g.145009484G>A - PLEC(NM_201384.3):c.603-3C>T - PLEC_000866 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.715C>T r.(?) p.(Arg239Trp) Parent #1 - VUS g.145009450G>A g.143935282G>A 592C>T (R198W) - PLEC_000289 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.715C>T r.(?) p.(Arg239Trp) Unknown - VUS g.145009450G>A g.143935282G>A PLEC(NM_201380.3):c.1045C>T (p.R349W) - PLEC_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.764G>A r.(?) p.(Arg255Gln) Unknown - VUS g.145009401C>T - PLEC(NM_201384.3):c.683G>A (p.(Arg228Gln)) - PLEC_000865 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.779C>T r.(?) p.(Thr260Met) Unknown - VUS g.145009386G>A - PLEC(NM_201380.3):c.1109C>T (p.T370M) - PLEC_000597 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.799+5G>A r.spl? p.? Unknown - likely benign g.145009361C>T g.143935193C>T PLEC(NM_000445.3):c.799+5G>A (p.?), PLEC(NM_201380.4):c.1129+5G>A - PLEC_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.799+5G>A r.spl? p.? Unknown - VUS g.145009361C>T g.143935193C>T PLEC(NM_000445.3):c.799+5G>A (p.?), PLEC(NM_201380.4):c.1129+5G>A - PLEC_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.799+10C>T r.(=) p.(=) Unknown - likely benign g.145009356G>A g.143935188G>A PLEC(NM_000445.3):c.799+10C>T (p.(=)), PLEC(NM_201380.4):c.1129+10C>T - PLEC_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.799+10C>T r.(=) p.(=) Unknown - benign g.145009356G>A g.143935188G>A PLEC(NM_000445.3):c.799+10C>T (p.(=)), PLEC(NM_201380.4):c.1129+10C>T - PLEC_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.799+10C>T r.(=) p.(=) Unknown - likely benign g.145009356G>A g.143935188G>A PLEC(NM_000445.3):c.799+10C>T (p.(=)), PLEC(NM_201380.4):c.1129+10C>T - PLEC_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.799+10C>T r.(=) p.(=) Parent #1 - benign g.145009356G>A g.143935188G>A - - PLEC_000216 148 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12545876 Germline - 148/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 148 Mohammed Faruq
-/. - c.799+10C>T r.(=) p.(=) Both (homozygous) - benign g.145009356G>A g.143935188G>A - - PLEC_000216 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12545876 Germline - 6/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
-?/. - c.810C>T r.(?) p.(Val270=) Unknown - likely benign g.145009275G>A g.143935107G>A PLEC(NM_201380.3):c.1140C>T (p.V380=) - PLEC_000530 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.848C>T r.(?) p.(Ser283Leu) Unknown - VUS g.145009237G>A - PLEC(NM_000445.3):c.848C>T (p.(Ser283Leu)) - PLEC_000730 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.853C>T r.(?) p.(Leu285=) Unknown - likely benign g.145009232G>A g.143935064G>A PLEC(NM_000445.3):c.853C>T (p.(=)) - PLEC_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.874G>A r.(?) p.(Val292Met) Unknown - likely benign g.145009211C>T - PLEC(NM_201384.1):c.793G>A (p.(Val265Met)) - PLEC_000788 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.879G>A r.(?) p.(Pro293=) Unknown - likely benign g.145009206C>T g.143935038C>T PLEC(NM_201380.3):c.1209G>A (p.P403=) - PLEC_000559 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.882C>T r.(?) p.(Asp294=) Unknown - likely benign g.145009203G>A - PLEC(NM_201380.3):c.1212C>T (p.D404=) - PLEC_000620 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.906C>T r.(?) p.(Asn302=) Unknown - likely benign g.145009179G>A g.143935011G>A PLEC(NM_201380.4):c.1236C>T (p.N412=) - PLEC_000529 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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