Full data view for gene DES

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_001927.3 transcript reference sequence.

640 entries on 7 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.(?_640-47)_(*252_?)del r.? p.? Parent #1 - pathogenic (recessive) g.(?_220284926)_(220290964_?)del - chr2:220284926-220290964 - DES_000286 3 kb deletion; combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD patient PubMed: Topf 2020 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.-58C>T r.(?) p.(=) Unknown - benign g.220283127C>T g.219418405C>T DES(NM_001927.3):c.-58C>T - DES_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-31T>A r.(?) p.(=) Unknown - likely benign g.220283154T>A g.219418432T>A - - DES_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-30_-18dup r.(?) p.(=) Unknown - benign g.220283155_220283167dup g.219418433_219418445dup DES(NM_001927.3):c.-18_-17insGCGCCCGCCAGCC, DES(NM_001927.3):c.-30_-18dupGCGCCCGCCAGCC - DES_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30_-18dup r.(?) p.(=) Unknown - likely benign g.220283155_220283167dup g.219418433_219418445dup DES(NM_001927.3):c.-18_-17insGCGCCCGCCAGCC, DES(NM_001927.3):c.-30_-18dupGCGCCCGCCAGCC - DES_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30_-18dup r.(?) p.(=) Unknown - likely benign g.220283155_220283167dup g.219418433_219418445dup DES(NM_001927.3):c.-18_-17insGCGCCCGCCAGCC, DES(NM_001927.3):c.-30_-18dupGCGCCCGCCAGCC - DES_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-18C>T r.(?) p.(=) Unknown - VUS g.220283167C>T g.219418445C>T DES(NM_001927.3):c.-18C>T - DES_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-11G>C r.(?) p.(=) Unknown - likely benign g.220283174G>C g.219418452G>C - - DES_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5' UTR c.-7C>G r.(?) p.(=) Parent #1 - VUS g.220283178C>G g.219418456C>G - - DES_000204 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 6 c.? r.? p.? Parent #1 - VUS g.? - D339Y - DES_000000 variant not possible PubMed: Strach 2008 - - Germline - - - 0 - DNA SEQ - - MYOP 18504128-Fam7-1 PubMed: Strach 2008 - M - Germany - >40y 0 - - 1 Johan den Dunnen
+/. 1 c.5G>T r.(?) p.(Ser2Ile) Unknown - pathogenic (dominant) g.220283189G>T g.219418467G>T - - DES_000019 - PubMed: Wahbi 2012, Journal: Wahbi 2012 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ? 22153487 F11-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >49y - - - 1 Pieter Klap
+/. 1 c.5G>T r.(?) p.(Ser2Ile) Unknown - pathogenic (dominant) g.220283189G>T g.219418467G>T - - DES_000019 - PubMed: Wahbi 2012, Journal: Wahbi 2012 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ? 22153487 F12-1 PubMed: Wahbi 2012, Journal: Wahbi 2012 - M - (France) - >44y - - - 1 Pieter Klap
+/. 1 c.5G>T r.5g>u p.Ser2Ile Parent #1 - pathogenic g.220283189G>T g.219418467G>T - - DES_000019 - PubMed: Selcen 2004 - rs58999456 Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - MYOP ? PubMed: Selcen 2004 - - - - - - 0 - - 1 Johan den Dunnen
-/. 1 c.9G>A r.(?) p.(=) Parent #1 - benign g.220283193G>A g.219418471G>A Gln3Gln - DES_000075 not in 364 control chromosomes PubMed: Zimmerman 2010 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - CMD ? PubMed: Zimmerman 2010 - - - United States white - 0 - - 1 Johan den Dunnen
+/. 1 c.17C>G r.(?) p.(Ser6Trp) Paternal (inferred) - pathogenic (dominant) g.220283201C>G g.219418479C>G - - DES_000120 - PubMed: Weihl 2015, Journal: Weihl 2015 - - Germline - - - 0 - DNA SEQ - - ? 25557463 F2-III-3 PubMed: Weihl 2015, Journal: Weihl 2015 3-generation family, 3 affected (3M) M - United States - >63y 0 - - 3 Pieter Klap
-/. - c.18G>A r.(?) p.(Ser6=) Unknown - benign g.220283202G>A g.219418480G>A DES(NM_001927.3):c.18G>A (p.S6=) - DES_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.18G>A r.(?) p.(=) Parent #1 - VUS g.220283202G>A g.219418480G>A - - DES_000129 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.18G>A r.(?) p.(Ser6=) Unknown - likely benign g.220283202G>A - DES(NM_001927.3):c.18G>A (p.S6=) - DES_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.25C>G r.(?) p.(Gln9Glu) Parent #1 - VUS g.220283209C>G g.219418487C>G - - DES_000205 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.35C>T r.(?) p.(Ser12Phe) Parent #1 - pathogenic g.220283219C>T g.219418497C>T S12F - DES_000080 not in 200 control chromosomes PubMed: Hong 2010 - - Germline/De novo (untested) yes - - 0 - DNA SEQ - - MYOP 20696008-Fam1 PubMed: Hong 2010 family, 4 affecteds - - China - - 0 - - 4 Johan den Dunnen
+?/. 1 c.35C>T r.(?) p.(Ser12Phe) Parent #1 - likely pathogenic g.220283219C>T g.219418497C>T - - DES_000080 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 A-VI-2 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 Cause of death: progressive right ventricle failure F - - 58y - - - - 2 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 A-VI-4 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - >52y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 A-VI-5 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >43y - - - 3 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 A-VI-7 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >37y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Maternal (confirmed) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 A-VII-3 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 Son of individual #00072172 M - - - >28y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (confirmed) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 A-VII-4 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 Son of individual #00072183 M - - - >18y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (confirmed) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 A-VII-5 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 Son of individual #00072183 M - - - >15y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 B-VI-9 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - 51y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Maternal (confirmed) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 B-VII-6 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >35y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Maternal (confirmed) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 B-VII-7 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - >37y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 C-VII-8 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >49y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 C-VII-10 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >40y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 C-VIII-1 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 Father had a sudden cardiac death at age 40. M - - - >21y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 D-II-5 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >63y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 D-III-1 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - >34y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 D-III-2 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - >41y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 E-I-2 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - F - - - >62y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Maternal (confirmed) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 Absent in 300 ethnically matched control alleles PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - - Germline - - - 0 - DNA PCR, SEQ - - ? 19879535 E-II-1 PubMed: van Tintelen 2009, Journal: van Tintelen 2009 - M - - - >39y - - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - - Germline - - - 0 - DNA SEQ - - ? FamF-III-1 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - M - Netherlands Dutch 43y 0 - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - - Germline - - - 0 - DNA SEQ - - ? FamG-III-1 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - M - Netherlands Dutch >52y 0 - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Paternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - - Germline - - - 0 - DNA SEQ - - ? FamH-III-1 PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - F - Netherlands Dutch >40y 0 - - 1 Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Maternal (inferred) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: McCormick 2015, Journal: McCormick 2015 - - Germline - - - 0 - DNA SEQ - - ? FamPatIII-1 PubMed: McCormick 2015, Journal: McCormick 2015 4-generation family, 5 affected (3F, 2M) M - United States Caucasian >45y 0 - Pacemaker 5 Pieter Klap
+/. - c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic g.220283222C>T g.219418500C>T DES(NM_001927.3):c.38C>T (p.S13F) - DES_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic g.220283222C>T g.219418500C>T DES(NM_001927.3):c.38C>T (p.S13F) - DES_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic g.220283222C>T g.219418500C>T DES(NM_001927.3):c.38C>T (p.S13F) - DES_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Parent #1 - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: Bergman 2007 - rs62636495 Germline - - - 0 - DNA SEQ - - MYOP FamB PubMed: Bergman 2007 4 affecteds 4-generation family - - Netherlands - - 0 - - 4 Johan den Dunnen
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Parent #1 - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: Bergman 2007 - rs62636495 Germline - - - 0 - DNA SEQ - - MYOP FamA PubMed: Bergman 2007 4 affecteds 4-generation family - - Netherlands - - 0 - - 4 Johan den Dunnen
+/. - c.38C>T r.(?) p.(Ser13Phe) Maternal (confirmed) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: Pica 2008 - - Germline yes - - 0 - DNA SEQ - - MYOP 18061454-Fam PubMed: Pica 2008 2-generation family, 4 affected (2F, 2M) F;M no China - - 0 - - 4 Johan den Dunnen
+/. 1 c.38C>T r.(?) p.(Ser13Phe) Parent #1 - pathogenic g.220283222C>T g.219418500C>T - - DES_000017 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.38C>T r.(?) p.(Ser13Phe) Unknown - pathogenic g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: Walsh 2017 - - Germline - 1/590 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1 c.46C>T r.(?) p.(Arg16Cys) Parent #1 - pathogenic (recessive) g.220283230C>T g.219418508C>T c.46C>T - DES_000018 - PubMed: Arbustini 2006 - rs62636495 Germline - - - 0 - DNA SEQ - - Healthy/Control 16376610-FamD PubMed: Arbustini 2006 3 healthy carriers (F, 2M) F;M - Italy - - 0 - - 3 Johan den Dunnen
+/. 1 c.46C>T r.(?) p.(Arg16Cys) Both (homozygous) - pathogenic (recessive) g.220283230C>T g.219418508C>T c.46C>T - DES_000018 - PubMed: Arbustini 2006 - rs62636495 Germline - - - 0 - DNA SEQ - - MYOP 16376610-FamDPatII3 PubMed: Arbustini 2006 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Italy - - 0 - - 4 Johan den Dunnen
-?/. - c.51C>T r.(?) p.(Thr17=) Unknown - likely benign g.220283235C>T g.219418513C>T - - DES_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.54C>T r.(?) p.(Phe18=) Unknown - likely benign g.220283238C>T - DES(NM_001927.3):c.54C>T (p.F18=) - DES_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.66G>A r.(?) p.(Pro22=) Unknown - likely benign g.220283250G>A g.219418528G>A DES(NM_001927.3):c.66G>A (p.P22=) - DES_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.66G>A r.(?) p.(Pro22=) Unknown - likely benign g.220283250G>A g.219418528G>A DES(NM_001927.3):c.66G>A (p.P22=) - DES_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.69C>T r.(?) p.(Gly23=) Unknown - likely benign g.220283253C>T g.219418531C>T - - DES_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.72C>A r.(?) p.(Phe24Leu) Unknown - VUS g.220283256C>A g.219418534C>A - - DES_000290 - PubMed: Walsh 2017 - - Germline - 1/93 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. - c.75A>G r.(?) p.(Pro25=) Unknown - benign g.220283259A>G g.219418537A>G DES(NM_001927.3):c.75A>G (p.P25=) - DES_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.75A>G r.(?) p.(Pro25=) Unknown - benign g.220283259A>G g.219418537A>G DES(NM_001927.3):c.75A>G (p.P25=) - DES_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.75A>G r.(?) p.(Pro25=) Unknown - benign g.220283259A>G g.219418537A>G DES(NM_001927.3):c.75A>G (p.P25=) - DES_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.75A>G r.(?) p.(Pro25=) Unknown - benign g.220283259A>G g.219418537A>G DES(NM_001927.3):c.75A>G (p.P25=) - DES_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.75A>G r.(?) p.(=) Unknown - benign g.220283259A>G g.219418537A>G - - DES_000062 from website {DBsub-Emory} - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ? Emory-? - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.79G>A r.(?) p.(Gly27Ser) Unknown - VUS g.220283263G>A g.219418541G>A DES(NM_001927.3):c.79G>A (p.G27S) - DES_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.79G>A r.(?) p.(Gly27Ser) Unknown - VUS g.220283263G>A g.219418541G>A DES(NM_001927.3):c.79G>A (p.G27S) - DES_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.79G>A r.(?) p.(Gly27Ser) Unknown - VUS g.220283263G>A g.219418541G>A DES(NM_001927.3):c.79G>A (p.G27S) - DES_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.79G>A r.(?) p.(Gly27Ser) Unknown - VUS g.220283263G>A g.219418541G>A DES(NM_001927.3):c.79G>A (p.G27S) - DES_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.79G>A r.(?) p.(Gly27Ser) Unknown - VUS g.220283263G>A g.219418541G>A DES(NM_001927.3):c.79G>A (p.G27S) - DES_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.83C>T r.(?) p.(Ser28Phe) Parent #1 - likely pathogenic g.220283267C>T g.219418545C>T - - DES_000303 ACMG PM1 PM2 PP2 PP3; no genotypes reported PubMed: Nguyen 2021 - - Germline - - - 0 - DNA SEQ-NG - 58-gene panel CMD Pat129 PubMed: Nguyen 2021 - - - Viet Nam - - 0 - - 1 Johan den Dunnen
?/. 1 c.91A>T r.(?) p.(Ser31Cys) Parent #1 - VUS g.220283275A>T g.219418553A>T - - DES_000206 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. - c.93T>C r.(?) p.(Ser31=) Unknown - benign g.220283277T>C g.219418555T>C DES(NM_001927.3):c.93T>C (p.S31=) - DES_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.93T>C r.(?) p.(Ser31=) Unknown - benign g.220283277T>C g.219418555T>C DES(NM_001927.3):c.93T>C (p.S31=) - DES_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.93T>C r.(?) p.(Ser31=) Unknown - benign g.220283277T>C g.219418555T>C DES(NM_001927.3):c.93T>C (p.S31=) - DES_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.93T>C r.(?) p.(Ser31=) Unknown - benign g.220283277T>C g.219418555T>C DES(NM_001927.3):c.93T>C (p.S31=) - DES_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 1 c.93T>C r.(?) p.(=) Unknown - benign g.220283277T>C g.219418555T>C - - DES_000063 from website {DBsub-Emory} - - - Germline/De novo (untested) - - - 0 - DNA SEQ - - ? Emory-? - - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.93T>G r.(?) p.(Ser31Arg) Unknown - VUS g.220283277T>G - DES(NM_001927.3):c.93T>G (p.S31R) - DES_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.109C>T r.(?) p.(Arg37Trp) Parent #1 - VUS g.220283293C>T g.219418571C>T - - DES_000207 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. - c.114G>A r.(?) p.(Ala38=) Unknown - benign g.220283298G>A g.219418576G>A DES(NM_001927.3):c.114G>A (p.A38=) - DES_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.114G>A r.(?) p.(Ala38=) Unknown - likely benign g.220283298G>A g.219418576G>A DES(NM_001927.3):c.114G>A (p.A38=) - DES_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.114G>A r.(?) p.(Ala38=) Unknown - likely benign g.220283298G>A - DES(NM_001927.3):c.114G>A (p.A38=) - DES_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.121G>A r.(?) p.(Gly41Ser) Unknown - VUS g.220283305G>A g.219418583G>A - - DES_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.127A>G r.(?) p.(Lys43Glu) Unknown - VUS g.220283311A>G g.219418589A>G - - DES_000291 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/590 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 1 c.137C>A r.137c>a p.Ser46Tyr Parent #1 - pathogenic g.220283321C>A g.219418599C>A c.137C>A - DES_000014 - PubMed: Selcen 2004 - - Germline - - - 0 - DNA SEQ - - MYOP ? PubMed: Selcen 2004 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.137C>T r.(?) p.(Ser46Phe) Parent #1 - pathogenic g.220283321C>T g.219418599C>T - - DES_000015 - PubMed: Goldfarb 2004 AG Engel pers.comm. - rs60794845 Germline - - - 0 - DNA SEQ - - MYOP ? PubMed: Goldfarb 2004 AG Engel pers.comm. - - - - - - 0 - - 1 Johan den Dunnen
+/. 1 c.137C>T r.137c>t p.Ser46Phe Parent #1 - pathogenic g.220283321C>T g.219418599C>T c.137C>T - DES_000015 - PubMed: Selcen 2004 - rs60794845 Germline - - - 0 - DNA SEQ - - MYOP ? PubMed: Selcen 2004 - - - - - - 0 - - 1 Johan den Dunnen
?/. - c.137C>T r.(?) p.(Ser46Phe) Unknown - VUS g.220283321C>T g.219418599C>T - - DES_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.155G>T r.(?) p.(Arg52Leu) Unknown - pathogenic (dominant) g.220283339G>T g.219418617G>T - - DES_000280 - PubMed: Yu 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P23 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - 0 - - 1 Johan den Dunnen
?/. - c.163C>T r.(?) p.(Gln55*) Unknown - VUS g.220283347C>T - DES(NM_001927.3):c.163C>T (p.Q55*) - DES_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.165G>A r.(?) p.(Gln55=) Unknown - likely benign g.220283349G>A g.219418627G>A DES(NM_001927.3):c.165G>A (p.Q55=) - DES_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.167T>A r.(?) p.(Val56Glu) Parent #1 - VUS g.220283351T>A g.219418629T>A - - DES_000208 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.168G>T r.(?) p.(Val56=) Unknown - likely benign g.220283352G>T g.219418630G>T DES(NM_001927.3):c.168G>T (p.V56=) - DES_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.170C>T r.(?) p.(Ser57Leu) Unknown - VUS g.220283354C>T g.219418632C>T DES(NM_001927.3):c.170C>T (p.S57L) - DES_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.170C>T r.(?) p.(Ser57Leu) Unknown - VUS g.220283354C>T g.219418632C>T DES(NM_001927.3):c.170C>T (p.S57L) - DES_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.170C>T r.(?) p.(Ser57Leu) Unknown - VUS g.220283354C>T g.219418632C>T DES(NM_001927.3):c.170C>T (p.S57L) - DES_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.170C>T r.(?) p.(Ser57Leu) Parent #1 - VUS g.220283354C>T g.219418632C>T - - DES_000136 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.170C>T r.(?) p.(Ser57Leu) Parent #1 - VUS g.220283354C>T g.219418632C>T - - DES_000136 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.184G>A r.(?) p.(Gly62Arg) Parent #1 - VUS g.220283368G>A g.219418646G>A - - DES_000209 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 1 c.193G>A r.(?) p.(Gly65Ser) Parent #1 - VUS g.220283377G>A g.219418655G>A - - DES_000210 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.193G>A r.(?) p.(Gly65Ser) Unknown - VUS g.220283377G>A g.219418655G>A - - DES_000210 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/590 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
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