Unique 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.

262 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
+/. 1 - 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 - - - Johan den Dunnen
-/. 1 - 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 - - - - - VKGL-NL_Utrecht
-?/. 1 - 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
-/., -?/. 3 - c.-30_-18dup r.(?) p.(=) - benign, 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, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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
?/. 1 5' UTR c.-7C>G r.(?) p.(=) - VUS g.220283178C>G g.219418456C>G - - DES_000204 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 6 c.? r.? p.? - VUS g.? - D339Y - DES_000000 variant not possible PubMed: Strach 2008 - - Germline - - - - - Johan den Dunnen
+/. 3 1 c.5G>T r.(?), r.5g>u p.(Ser2Ile), p.Ser2Ile - pathogenic, pathogenic (dominant) g.220283189G>T g.219418467G>T - - DES_000019 - PubMed: Selcen 2004, PubMed: Wahbi 2012, Journal: Wahbi 2012 - rs58999456 Germline, Germline/De novo (untested) - - - - - Johan den Dunnen, Pieter Klap
-/. 1 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) - - - - - Johan den Dunnen
+/. 1 1 c.17C>G r.(?) p.(Ser6Trp) - pathogenic (dominant) g.220283201C>G g.219418479C>G - - DES_000120 - PubMed: Weihl 2015, Journal: Weihl 2015 - - Germline - - - - - Pieter Klap
-/., -?/., ?/. 3 1 c.18G>A r.(?) p.(=), p.(Ser6=) - benign, likely benign, VUS g.220283202G>A g.219418480G>A DES(NM_001927.3):c.18G>A (p.S6=) - DES_000129 VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 1 c.25C>G r.(?) p.(Gln9Glu) - VUS g.220283209C>G g.219418487C>G - - DES_000205 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/. 2 1 c.35C>T r.(?) p.(Ser12Phe) - likely pathogenic, pathogenic g.220283219C>T g.219418497C>T S12F - DES_000080 not in 200 control chromosomes PubMed: Hong 2010, PubMed: Nallamilli 2018 - - Germline, Germline/De novo (untested) yes - - - - Johan den Dunnen, Madhuri Hegde
+/. 30 1 c.38C>T r.(?) p.(Ser13Phe) - pathogenic, pathogenic (dominant) g.220283222C>T g.219418500C>T DES(NM_001927.3):c.38C>T (p.S13F) - DES_000017 Absent in 300 ethnically matched control alleles, no second variant, 1 more item PubMed: Bergman 2007, PubMed: McCormick 2015, Journal: McCormick 2015, PubMed: Nallamilli 2018, 4 more items - rs62636495 CLASSIFICATION record, Germline yes 1/590 cases - - - Johan den Dunnen, Madhuri Hegde, Pieter Klap, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 2 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 - - - - - Johan den Dunnen
-?/. 1 - 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
-?/. 1 - 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
-?/. 2 - 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_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - 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
?/. 1 - c.72C>A r.(?) p.(Phe24Leu) - VUS g.220283256C>A g.219418534C>A - - DES_000290 - PubMed: Walsh 2017 - - Germline - 1/93 cases - - - Johan den Dunnen
-/. 5 1 c.75A>G r.(?) p.(=), p.(Pro25=) - benign g.220283259A>G g.219418537A>G DES(NM_001927.3):c.75A>G (p.P25=) - DES_000062 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline/De novo (untested) - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 5 - 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, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - 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 - - - - - Johan den Dunnen
?/. 1 1 c.91A>T r.(?) p.(Ser31Cys) - VUS g.220283275A>T g.219418553A>T - - DES_000206 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 5 1 c.93T>C r.(?) p.(=), p.(Ser31=) - benign g.220283277T>C g.219418555T>C DES(NM_001927.3):c.93T>C (p.S31=) - DES_000063 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline/De novo (untested) - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - 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
?/. 1 1 c.109C>T r.(?) p.(Arg37Trp) - VUS g.220283293C>T g.219418571C>T - - DES_000207 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/., -?/. 3 - c.114G>A r.(?) p.(Ala38=) - benign, 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, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - 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
?/. 1 - 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 - - - Johan den Dunnen
+/. 1 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 - - - - - Johan den Dunnen
+/., ?/. 3 1 c.137C>T r.(?), r.137c>t p.(Ser46Phe), p.Ser46Phe - pathogenic, VUS g.220283321C>T g.219418599C>T c.137C>T - DES_000015 VKGL data sharing initiative Nederland PubMed: Goldfarb 2004 AG Engel pers.comm., PubMed: Selcen 2004 - rs60794845 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 - c.155G>T r.(?) p.(Arg52Leu) - pathogenic (dominant) g.220283339G>T g.219418617G>T - - DES_000280 - PubMed: Yu 2017 - - De novo - - - - - Johan den Dunnen
?/. 1 - 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
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 1 c.167T>A r.(?) p.(Val56Glu) - VUS g.220283351T>A g.219418629T>A - - DES_000208 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-?/. 1 - 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 - - - - - VKGL-NL_Utrecht
?/. 5 1 c.170C>T r.(?) p.(Ser57Leu) - VUS g.220283354C>T g.219418632C>T DES(NM_001927.3):c.170C>T (p.S57L) - DES_000136 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 1 c.184G>A r.(?) p.(Gly62Arg) - VUS g.220283368G>A g.219418646G>A - - DES_000209 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/., ?/. 3 1 c.193G>A r.(?) p.(Gly65Ser) - likely pathogenic, VUS g.220283377G>A g.219418655G>A - - DES_000210 ACMG PS4-M PM1 PM2 PP2 BP4; no genotypes reported, VUS favour pathogenic PubMed: Nallamilli 2018, PubMed: Nguyen 2021, PubMed: Walsh 2017 - - Germline - 1/590 cases - - - Johan den Dunnen, Madhuri Hegde
-?/. 2 - c.195C>T r.(?) p.(Gly65=) - likely benign g.220283379C>T g.219418657C>T DES(NM_001927.3):c.195C>T (p.G65=) - DES_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/., ?/. 4 1 c.216C>A r.(?) p.(Ser72Arg) - likely benign, VUS g.220283400C>A g.219418678C>A DES(NM_001927.3):c.216C>A (p.S72R) - DES_000122 no second variant in DES, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018, PubMed: Sahlin 2019, Journal: Sahlin 2019 - - CLASSIFICATION record, Germline ? - - - - Madhuri Hegde, Ellika Sahlin, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 6 1 c.218G>A r.(?) p.(Arg73Gln) - VUS g.220283402G>A g.219418680G>A - - DES_000211 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.221T>C r.(?) p.(Leu74Pro) - VUS g.220283405T>C g.219418683T>C DES(NM_001927.3):c.221T>C (p.L74P) - DES_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.225G>A r.(?) p.(Gly75=) - benign, likely benign g.220283409G>A g.219418687G>A DES(NM_001927.3):c.225G>A (p.G75=) - DES_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 - c.226del r.(?) p.(Thr76Profs*22) - pathogenic (recessive) g.220283410del g.219418688del 226delA - DES_000198 - PubMed: Henderson 2013 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.228C>T r.(?) p.(Thr76=) - likely benign g.220283412C>T g.219418690C>T - - DES_000268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 1 c.229A>G r.(?) p.(Thr77Ala) - VUS g.220283413A>G g.219418691A>G - - DES_000212 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 1 c.243C>T r.(?) p.(=) - VUS g.220283427C>T g.219418705C>T - - DES_000213 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 - c.245_247del r.(?) p.(Ser82del) - VUS g.220283429_220283431del g.219418707_219418709del DES(NM_001927.3):c.245_247delCCT (p.S82del) - DES_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 5 1 c.250G>A r.(?) p.(Gly84Ser) - VUS g.220283434G>A g.219418712G>A DES(NM_001927.3):c.250G>A (p.G84S) - DES_000141 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.260A>G r.(?) p.(Glu87Gly) - VUS g.220283444A>G g.219418722A>G - - DES_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.262C>G r.(?) p.(Leu88Val) - VUS g.220283446C>G g.219418724C>G - - DES_000270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.263T>C r.(?) p.(Leu88Pro) - VUS g.220283447T>C g.219418725T>C - - DES_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.264G>C r.(?) p.(Leu88=) - likely benign g.220283448G>C g.219418726G>C - - DES_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.296A>T r.(?) p.(Gln99Leu) - VUS g.220283480A>T g.219418758A>T DES(NM_001927.3):c.296A>T (p.Q99L) - DES_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.305T>C r.(?) p.(Leu102Pro) - VUS g.220283489T>C g.219418767T>C DES(NM_001927.3):c.305T>C (p.L102P) - DES_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 1 c.322G>A r.(?) p.(Glu108Lys) - pathogenic g.220283506G>A g.219418784G>A 408G>A - DES_000016 not on 300 control chromosomes PubMed: Taylor 2007 - rs62636490 Germline - - - - - Johan den Dunnen
+/., +?/. 2 - c.322G>T r.(?) p.(Glu108*) - likely pathogenic, pathogenic (recessive) g.220283506G>T g.219418784G>T - - DES_000199 combination of variants not reported PubMed: Henderson 2013, PubMed: Topf 2020 - - Germline yes 2/1001 cases - - - Johan den Dunnen
-/., -?/. 3 - c.324G>A r.(?) p.(Glu108=) - benign, likely benign g.220283508G>A g.219418786G>A DES(NM_001927.3):c.324G>A (p.E108=) - DES_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
+/. 1 - c.336_344del r.(?) p.(Gln113_Leu115del) - pathogenic g.220283520_220283528del g.219418798_219418806del 336_344delGCAGGAGCT - DES_000203 functional analysis suggests deleterious effect on DES protein PubMed: Marakhonov 2019 - - Germline yes - - - - Andrey Marakhonov
+/. 1 1 c.338_339del r.(?) p.(Gln113Argfs*4) - pathogenic g.220283522_220283523del g.219418800_219418801del 338-339delAG - DES_000079 not in 200 control chromosomes PubMed: Hong 2010 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 1 c.340_342del r.(?) p.(Glu114del), p.Glu114del - NA, pathogenic (dominant) g.220283524_220283526del g.219418802_219418804del - - DES_000072 1 more item PubMed: Vernengo 2010 - - Germline, In vitro (cloned) yes - - - - Johan den Dunnen
+/., +?/. 3 1 c.347A>G r.(?) p.(Asn116Ser), p.Asn116Ser - likely pathogenic, NA, pathogenic g.220283531A>G g.219418809A>G - - DES_000070 1 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Klauke 2010, PubMed: Narang 2020, Journal: Narang 2020 - rs267607499 De novo, Germline, In vitro (cloned) - 1/2794 individuals - - - Johan den Dunnen, Andreas Brodehl, Mohammed Faruq
+?/. 1 - c.353G>C r.(?) p.(Arg118Pro) - likely pathogenic g.220283537G>C g.219418815G>C DES(NM_001927.3):c.353G>C (p.R118P) - DES_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.356T>C r.(?) p.(Phe119Ser) - VUS g.220283540T>C - DES(NM_001927.3):c.356T>C (p.F119S) - DES_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 1 c.359C>A r.(?) p.(Ala120Asp), p.Ala120Asp - likely pathogenic, NA g.220283543C>A g.219418821C>A - - DES_000069 2 more items PubMed: Brodehl 2013 - - Germline, In vitro (cloned) yes - - - - Johan den Dunnen, Andreas Brodehl
+?/. 1 - c.365A>G r.(?) p.(Tyr122Cys) - likely pathogenic g.220283549A>G g.219418827A>G - - DES_000292 - PubMed: Walsh 2017 - - Germline - 1/93 cases - - - Johan den Dunnen
-/., -?/. 4 - c.372G>A r.(?) p.(Glu124=) - benign, likely benign g.220283556G>A g.219418834G>A DES(NM_001927.3):c.372G>A (p.E124=) - DES_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.383T>G r.(?) p.(Phe128Cys) - VUS g.220283567T>G g.219418845T>G DES(NM_001927.3):c.383T>G (p.F128C) - DES_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.399C>T r.(?) p.(Asn133=) - likely benign g.220283583C>T g.219418861C>T DES(NM_001927.3):c.399C>T (p.N133=) - DES_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 1 c.404C>T r.(?) p.(Ala135Val) - VUS g.220283588C>T g.219418866C>T - - DES_000214 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 1 c.407T>A r.(?) p.(Leu136His) - VUS g.220283591T>A g.219418869T>A - - DES_000215 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., +?/. 3 1 c.407T>C r.(?) p.(Leu136Pro) - likely pathogenic, pathogenic (dominant) g.220283591T>C g.219418869T>C DES(NM_001927.3):c.407T>C (p.L136P) - DES_000094 VKGL data sharing initiative Nederland PubMed: Brodehl 2015, Journal: Brodehl 2015 - - CLASSIFICATION record, Germline - - - - - Pieter Klap, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 6 1 c.408C>T r.(?) p.(=), p.(Leu136=) - benign g.220283592C>T g.219418870C>T DES(NM_001927.3):c.408C>T (p.L136=) - DES_000051 VKGL data sharing initiative Nederland PubMed: Park 2000 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 2 1 c.430A>T r.(?) p.(Lys144*) - pathogenic (dominant) g.220283614A>T g.219418892A>T - - DES_000115 - PubMed: Wahbi 2012, Journal: Wahbi 2012 - - Germline - - - - - Pieter Klap
+/. 1 - c.444dup r.(?) p.(Thr149Aspfs*23) - pathogenic g.220283628dup - - - DES_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.449G>C r.(?) p.(Arg150Pro) - VUS g.220283633G>C g.219418911G>C - - DES_000293 - PubMed: Walsh 2017 - - Germline - 1/304 cases - - - Johan den Dunnen
+?/. 1 1 c.499G>C r.(?) p.(Glu167Gln) - likely pathogenic g.220283683G>C g.219418961G>C - - DES_000084 - - - - Germline - - - - - Tom Winder
+/. 4 1 c.521_541del r.(?) p.(Ala174_Arg180del), p.Ala174_Arg180del - NA, pathogenic (recessive) g.220283705_220283725del g.219418983_219419003del R173-E179del, R173_E179del - DES_000004 cloned in pCB6 hamsterDES, expressed in MCF7, COS cells; no IF formed, aggregates formed PubMed: Munoz-Marmol 1998, OMIM:var0004, PubMed: Piñol-Ripoll 2009 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
?/. 1 - c.524G>A r.(?) p.(Arg175His) - VUS g.220283708G>A g.219418986G>A - - DES_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.548T>C r.(?) p.(Leu183Pro) - VUS g.220283732T>C g.219419010T>C - - DES_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.565C>T r.(?) p.(Arg189Trp) - VUS g.220283749C>T - DES(NM_001927.3):c.565C>T (p.R189W) - DES_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.566G>A r.(?) p.(Arg189Gln) - VUS g.220283750G>A g.219419028G>A DES(NM_001927.3):c.566G>A (p.R189Q) - DES_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.567G>A r.(?) p.(Arg189=) - benign g.220283751G>A g.219419029G>A DES(NM_001927.3):c.567G>A (p.R189=) - DES_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 1 c.569T>C r.569u>c p.Leu190Pro - pathogenic g.220283753T>C g.219419031T>C Riley, Waddell, submitted - DES_000201 - - - - Germline yes - - - - Leigh Waddell
+?/. 1 - c.578+5G>C r.spl? p.? - likely pathogenic g.220283767G>C g.219419045G>C DES(NM_001927.3):c.578+5G>C - DES_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 3 - c.578+11G>A r.(=) p.(=) - benign g.220283773G>A g.219419051G>A DES(NM_001927.3):c.578+11G>A - DES_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.578+21del r.(=) p.(=) - benign g.220283783del g.219419061del DES(NM_001927.3):c.578+21delA - DES_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.578+64T>G r.(=) p.(=) - benign g.220283826T>G g.219419104T>G - - DES_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 1i c.579-38C>T r.(=), r.(?) p.(=) - benign g.220284779C>T g.219420057C>T - - DES_000064 from website {DBsub-Emory}, VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline/De novo (untested) - - - - - Madhuri Hegde, VKGL-NL_Nijmegen
?/. 1 - c.579-11_579-10insCCTGGA r.(=) p.(=) - VUS g.220284806_220284807insCCTGGA g.219420084_219420085insCCTGGA - - DES_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 3 2 c.600del r.(?) p.(Lys201Argfs*20) - likely pathogenic, pathogenic (dominant), pathogenic (recessive) g.220284838del g.219420116del 600delG - DES_000097 - PubMed: McLaughlin 2013, PubMed: McLaughlin 2013, Journal: McLaughlin 2013, PubMed: Walsh 2017 - - Germline yes 1/590 cases - - - Johan den Dunnen, Pieter Klap
+/. 1 2 c.(602del) r.(?) p.(Lys201fs) - pathogenic g.220284840del g.219420118del K201fs - DES_000099 - Journal: Fatkin 2016 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.615G>A r.(?) p.(Glu205=) - likely benign g.220284853G>A g.219420131G>A - - DES_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.616A>G r.(?) p.(Asn206Asp) - VUS g.220284854A>G g.219420132A>G NM_001927:c.A616G - DES_000093 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - Johan den Dunnen
+/. 1 - c.634C>T r.(?) p.(Arg212Ter) - pathogenic g.220284872C>T g.219420150C>T - - DES_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 6 2 c.635G>A r.(?) p.(Arg212Gln) - VUS g.220284873G>A g.219420151G>A DES(NM_001927.3):c.635G>A (p.R212Q) - DES_000152 no second variant, VKGL data sharing initiative Nederland PubMed: Nallamilli 2018 - - CLASSIFICATION record, Germline - - - - - Madhuri Hegde, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/., +?/., -/., -?/., ?/. 18 2 c.638C>T r.(?) p.(Ala213Val), p.Ala213Val - benign, likely benign, likely pathogenic, NA, pathogenic, VUS g.220284876C>T g.219420154C>T 730T>C, Ala213Val, DES(NM_001927.3):c.638C>T (p.A213V) - DES_000020 alpha-glucosidase c.271A>G (M), c.781G>A (F), control chromosomes, 6 more items PubMed: Goldfarb 2004 Bowles 2002, PubMed: Goudeau 2006, PubMed: Kostareva 2006, PubMed: Taylor 2007, 3 more items - rs41272699 CLASSIFICATION record, Germline, Germline/De novo (untested), In vitro (cloned) - 1/73 cases, 1/98 patients, 2/172, 3/300 controls, 4/398 chromosomes, 5/108 patients, 1 more item - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, Mohammed Faruq
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