All variants in the DES gene

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.

672 entries on 7 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. - c.(?_640-47)_(*252_?)del r.? p.? - 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 - Johan den Dunnen
-/. - c.-58C>T r.(?) p.(=) - benign g.220283127C>T g.219418405C>T DES(NM_001927.3):c.-58C>T - DES_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.-31T>A r.(?) p.(=) - likely benign g.220283154T>A g.219418432T>A - - DES_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-30_-18dup r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
-?/. - c.-30_-18dup r.(?) p.(=) - 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 - - - - - VKGL-NL_Groningen
-?/. - c.-30_-18dup r.(?) p.(=) - 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 - - - - - VKGL-NL_Nijmegen
?/. - c.-18C>T r.(?) p.(=) - VUS g.220283167C>T g.219418445C>T DES(NM_001927.3):c.-18C>T - DES_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-11G>C r.(?) p.(=) - likely benign g.220283174G>C g.219418452G>C - - DES_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 5' UTR c.-7C>G r.(?) p.(=) - VUS g.220283178C>G g.219418456C>G - - DES_000204 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 6 c.? r.? p.? - VUS g.? - D339Y - DES_000000 variant not possible PubMed: Strach 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.5G>T r.(?) p.(Ser2Ile) - pathogenic (dominant) g.220283189G>T g.219418467G>T - - DES_000019 - PubMed: Wahbi 2012, Journal: Wahbi 2012 - - Germline/De novo (untested) - - - 0 - Pieter Klap
+/. 1 c.5G>T r.(?) p.(Ser2Ile) - pathogenic (dominant) g.220283189G>T g.219418467G>T - - DES_000019 - PubMed: Wahbi 2012, Journal: Wahbi 2012 - - Germline/De novo (untested) - - - 0 - Pieter Klap
+/. 1 c.5G>T r.5g>u p.Ser2Ile - pathogenic g.220283189G>T g.219418467G>T - - DES_000019 - PubMed: Selcen 2004 - rs58999456 Germline - - - 0 - Johan den Dunnen
-/. 1 c.9G>A r.(?) p.(=) - benign g.220283193G>A g.219418471G>A Gln3Gln - DES_000075 not in 364 control chromosomes PubMed: Zimmerman 2010 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 1 c.17C>G r.(?) p.(Ser6Trp) - pathogenic (dominant) g.220283201C>G g.219418479C>G - - DES_000120 - PubMed: Weihl 2015, Journal: Weihl 2015 - - Germline - - - 0 - Pieter Klap
-/. - c.18G>A r.(?) p.(Ser6=) - 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 - VKGL-NL_AMC
?/. 1 c.18G>A r.(?) p.(=) - VUS g.220283202G>A g.219418480G>A - - DES_000129 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-?/. - c.18G>A r.(?) p.(Ser6=) - likely benign g.220283202G>A - DES(NM_001927.3):c.18G>A (p.S6=) - DES_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 c.25C>G r.(?) p.(Gln9Glu) - VUS g.220283209C>G g.219418487C>G - - DES_000205 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 1 c.35C>T r.(?) p.(Ser12Phe) - pathogenic g.220283219C>T g.219418497C>T S12F - DES_000080 not in 200 control chromosomes PubMed: Hong 2010 - - Germline/De novo (untested) yes - - 0 - Johan den Dunnen
+?/. 1 c.35C>T r.(?) p.(Ser12Phe) - likely pathogenic g.220283219C>T g.219418497C>T - - DES_000080 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - 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 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - - Germline - - - 0 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - - Germline - - - 0 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: van Spaendonck-Zwarts 2012, Journal: van Spaendonck-Zwarts 2012 - - Germline - - - 0 - Pieter Klap
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: McCormick 2015, Journal: McCormick 2015 - - Germline - - - 0 - Pieter Klap
+/. - c.38C>T r.(?) p.(Ser13Phe) - 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 - VKGL-NL_AMC
+/. - c.38C>T r.(?) p.(Ser13Phe) - 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 - VKGL-NL_Groningen
+/. - c.38C>T r.(?) p.(Ser13Phe) - 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 - VKGL-NL_Nijmegen
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: Bergman 2007 - rs62636495 Germline - - - 0 - Johan den Dunnen
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: Bergman 2007 - rs62636495 Germline - - - 0 - Johan den Dunnen
+/. - c.38C>T r.(?) p.(Ser13Phe) - pathogenic (dominant) g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: Pica 2008 - - Germline yes - - 0 - Johan den Dunnen
+/. 1 c.38C>T r.(?) p.(Ser13Phe) - pathogenic g.220283222C>T g.219418500C>T - - DES_000017 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.38C>T r.(?) p.(Ser13Phe) - pathogenic g.220283222C>T g.219418500C>T - - DES_000017 - PubMed: Walsh 2017 - - Germline - 1/590 cases - 0 - Johan den Dunnen
+/. 1 c.46C>T r.(?) p.(Arg16Cys) - pathogenic (recessive) g.220283230C>T g.219418508C>T c.46C>T - DES_000018 - PubMed: Arbustini 2006 - rs62636495 Germline - - - 0 - Johan den Dunnen
+/. 1 c.46C>T r.(?) p.(Arg16Cys) - pathogenic (recessive) g.220283230C>T g.219418508C>T c.46C>T - DES_000018 - PubMed: Arbustini 2006 - rs62636495 Germline - - - 0 - Johan den Dunnen
+?/. - c.49_54dup r.(?) p.(Thr17_Phe18dup) - likely pathogenic g.220283233_220283238dup g.219418511_219418516dup - - DES_000307 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.51C>T r.(?) p.(Thr17=) - likely benign g.220283235C>T g.219418513C>T - - DES_000267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.54C>T r.(?) p.(Phe18=) - likely benign g.220283238C>T - DES(NM_001927.3):c.54C>T (p.F18=) - DES_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.66G>A r.(?) p.(Pro22=) - 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 - VKGL-NL_Rotterdam
-?/. - c.66G>A r.(?) p.(Pro22=) - 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 - - - - - VKGL-NL_Utrecht
-?/. - c.69C>T r.(?) p.(Gly23=) - likely benign g.220283253C>T g.219418531C>T - - DES_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.72C>A r.(?) p.(Phe24Leu) - VUS g.220283256C>A g.219418534C>A - - DES_000290 - PubMed: Walsh 2017 - - Germline - 1/93 cases - 0 - Johan den Dunnen
-/. - c.75A>G r.(?) p.(Pro25=) - 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 - VKGL-NL_AMC
-/. - c.75A>G r.(?) p.(Pro25=) - 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 - VKGL-NL_Groningen
-/. - c.75A>G r.(?) p.(Pro25=) - 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 - VKGL-NL_Rotterdam
-/. - c.75A>G r.(?) p.(Pro25=) - 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 - VKGL-NL_Nijmegen
-/. 1 c.75A>G r.(?) p.(=) - benign g.220283259A>G g.219418537A>G - - DES_000062 from website {DBsub-Emory} - - - Germline/De novo (untested) - - - 0 - Madhuri Hegde
?/. - c.79G>A r.(?) p.(Gly27Ser) - 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 - VKGL-NL_AMC
?/. - c.79G>A r.(?) p.(Gly27Ser) - 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 - VKGL-NL_Groningen
?/. - c.79G>A r.(?) p.(Gly27Ser) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.79G>A r.(?) p.(Gly27Ser) - 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 - - - - - VKGL-NL_Nijmegen
?/. - c.79G>A r.(?) p.(Gly27Ser) - 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 - - - - - VKGL-NL_Utrecht
+?/. - c.83C>T r.(?) p.(Ser28Phe) - likely pathogenic g.220283267C>T g.219418545C>T - - DES_000303 ACMG PM1 PM2 PP2 PP3; no genotypes reported PubMed: Nguyen 2021 - - Germline - - - 0 - Johan den Dunnen
?/. - c.91A>G r.(?) p.(Ser31Gly) - VUS g.220283275A>G - - - DES_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 c.91A>T r.(?) p.(Ser31Cys) - VUS g.220283275A>T g.219418553A>T - - DES_000206 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-/. - c.93T>C r.(?) p.(Ser31=) - 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 - VKGL-NL_AMC
-/. - c.93T>C r.(?) p.(Ser31=) - 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 - VKGL-NL_Groningen
-/. - c.93T>C r.(?) p.(Ser31=) - 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 - VKGL-NL_Rotterdam
-/. - c.93T>C r.(?) p.(Ser31=) - 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 - VKGL-NL_Nijmegen
-/. 1 c.93T>C r.(?) p.(=) - benign g.220283277T>C g.219418555T>C - - DES_000063 from website {DBsub-Emory} - - - Germline/De novo (untested) - - - 0 - Madhuri Hegde
?/. - c.93T>G r.(?) p.(Ser31Arg) - VUS g.220283277T>G - DES(NM_001927.3):c.93T>G (p.S31R) - DES_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.93T>G r.(?) p.(Ser31Arg) - likely benign g.220283277T>G - DES(NM_001927.3):c.93T>G (p.S31R) - DES_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 c.109C>T r.(?) p.(Arg37Trp) - VUS g.220283293C>T g.219418571C>T - - DES_000207 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-/. - c.114G>A r.(?) p.(Ala38=) - 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 - - - - - VKGL-NL_AMC
-?/. - c.114G>A r.(?) p.(Ala38=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.114G>A r.(?) p.(Ala38=) - likely benign g.220283298G>A - DES(NM_001927.3):c.114G>A (p.A38=) - DES_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.121G>A r.(?) p.(Gly41Ser) - VUS g.220283305G>A g.219418583G>A - - DES_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.127A>G r.(?) p.(Lys43Glu) - VUS g.220283311A>G g.219418589A>G - - DES_000291 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/590 cases - 0 - Johan den Dunnen
+/. 1 c.137C>A r.137c>a p.Ser46Tyr - pathogenic g.220283321C>A g.219418599C>A c.137C>A - DES_000014 - PubMed: Selcen 2004 - - Germline - - - 0 - Johan den Dunnen
+/. 1 c.137C>T r.(?) p.(Ser46Phe) - pathogenic g.220283321C>T g.219418599C>T - - DES_000015 - PubMed: Goldfarb 2004 AG Engel pers.comm. - rs60794845 Germline - - - 0 - Johan den Dunnen
+/. 1 c.137C>T r.137c>t p.Ser46Phe - pathogenic g.220283321C>T g.219418599C>T c.137C>T - DES_000015 - PubMed: Selcen 2004 - rs60794845 Germline - - - 0 - Johan den Dunnen
?/. - c.137C>T r.(?) p.(Ser46Phe) - VUS g.220283321C>T g.219418599C>T - - DES_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.155G>T r.(?) p.(Arg52Leu) - pathogenic (dominant) g.220283339G>T g.219418617G>T - - DES_000280 - PubMed: Yu 2017 - - De novo - - - 0 - Johan den Dunnen
?/. - c.163C>T r.(?) p.(Gln55*) - VUS g.220283347C>T - DES(NM_001927.3):c.163C>T (p.Q55*) - DES_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.165G>A r.(?) p.(Gln55=) - 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 - VKGL-NL_Rotterdam
?/. 1 c.167T>A r.(?) p.(Val56Glu) - VUS g.220283351T>A g.219418629T>A - - DES_000208 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
-?/. - c.168G>T r.(?) p.(Val56=) - 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 - VKGL-NL_Utrecht
?/. - c.170C>T r.(?) p.(Ser57Leu) - 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 - VKGL-NL_AMC
?/. - c.170C>T r.(?) p.(Ser57Leu) - 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 - VKGL-NL_Groningen
?/. 1 c.170C>T r.(?) p.(Ser57Leu) - VUS g.220283354C>T g.219418632C>T - - DES_000136 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.170C>T r.(?) p.(Ser57Leu) - VUS g.220283354C>T g.219418632C>T - - DES_000136 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.184G>A r.(?) p.(Gly62Arg) - VUS g.220283368G>A g.219418646G>A - - DES_000209 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
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