Unique variants in the DYSF gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
NOTE: the DYSF coding DNA reference sequence used has been updated. The "DNA_change" column gives descriptions based on NM_003494.3, meaning that exon 40b has been removed and variant descriptions 3' of c.4410 differ from those given previously (-63 nucleotides). The column "DNA_AllExon" gives descriptions based on a transcript incl. exons 5b and 40b. For details see the DYSF coding DNA reference sequence.
Information The variants shown are described using the NM_003494.3 transcript reference sequence.

1222 entries on 13 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 _1_12i c.(?_-376)_(1180+1_1181-1)dup) r.? p.? - pathogenic (recessive) g.(?_71680753)_(71753477_71755427)dup - dup ex1-12 - DYSF_001025 - PubMed: Ten Dam 2019 - - Germline - - - - - Ieke Ginjaar
?/. 1 _1_20i c.(?_-376)_(1930+1_1931-1)dup r.? p.? - VUS g.(?_71680753_(71780319_71780936)del - - - DYSF_000735 735bb duplication involving 12 genes and exons 1-20 DYSF gene Piluso ESHG2010 P12.132 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_22i c.(?_-376)_(2162+1_2163-1)dup r.? p.? - pathogenic (recessive) g.(?_71680753)_(71783202_71788881)dup g.(?_71453623)_(71556072_71561751)dup dup ex1-22 - DYSF_001074 no variant 2nd chromosome PubMed: Cacciottolo 2011 - - Germline - - - - - Johan den Dunnen
-/. 1 1 c.-118C>T r.(?) p.(=) - benign g.71681011C>T g.71453881C>T 1-118C>T - DYSF_001075 - PubMed: Cacciottolo 2011 - - Germline - - - - - Johan den Dunnen
+/. 1 20 c.(2163_2355)? r.spl? p.? - pathogenic (recessive) g.(71788882_71789074)? - 2197T>C - DYSF_000000 variant not possible, affects ESE PubMed: Nagaraju 2008 - - Germline - - - - - Johan den Dunnen
+/. 2 50i c.(5667+1_5668-1)? r.5667_5668ins(180), r.spl p.? - pathogenic (recessive) g.(71896877_71901326), g.(71896877_71901326)? - (5667+1_5668-1), splie I-50 - DYSF_000000 - Rao, Am.J.Hum.Genet. 71: S427, PubMed: Nagaraju 2008 - - Germline - - - - - Johan den Dunnen
-/. 2 2i c.145-181_145-150CCAT[4_9] r.(?) p.(=) - benign g.71708828_71708859CCAT[4_9] - - - DYSF_000156 marker Cy172-H32, marker Cy172-H32, heterozygosity 0.72 PubMed: Liu 1998, PubMed: Weiler 1999 - - Germline - - - - - Johan den Dunnen
-/. 1 40i c.4411-3224_4411-3195GT[13_17] r.(=) p.(=) - benign g.71867871_71867900GT[13_17] - 4411-3224GT(13_17) - DYSF_000151 - PubMed: Aoki 2001 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.? r.? p.? - pathogenic (recessive) g.? g.? deletion at 3' end - DYSF_000000 - PubMed: Cacciottolo 2011 - - Germline - - - - - Johan den Dunnen
?/. 1 1 c.8G>A r.(?) p.(Arg3Lys) - VUS g.71681136G>A g.71454006G>A - - DYSF_000736 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 1 c.17T>A r.(?) p.(Ile6Asn) - VUS g.71681145T>A g.71454015T>A - - DYSF_000737 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 1 c.20T>C r.(?) p.(Leu7Pro) ACMG VUS g.71681148T>C g.71454018T>C - - DYSF_001239 ACMG PM, PP4 supporting, PM3 supporting Journal: Charnay 2021 - - Germline - - - - - Svetlana Gorokhova
+/. 1 1 c.75del r.(?) p.(Ala26Argfs*6) - pathogenic (recessive) g.71681203del g.71454073del 74delC - DYSF_000653 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - - - Pieter Klap
?/. 1 1i c.88+38G>T r.(?) p.(=) - VUS g.71681254G>T g.71454124G>T - - DYSF_000495 from website {DBsub-Emory} - - - Unknown - - - - - Madhuri Hegde
-/. 1 1 c.88+69C>T r.(?) p.(=) - benign g.71681285C>T g.71454155C>T - - DYSF_001076 - PubMed: Cacciottolo 2011 - - Germline - - - - - Johan den Dunnen
-?/. 3 1i c.88+12629G>A r.(=) p.(=) - likely benign g.71693845G>A g.71466715G>A - - DYSF_000413 - PubMed: Krahn 2009 - rs6752632 Germline - 1/26 patients, 5/26 patients - - - Svetlana Gorokhova
-?/. 3 1i c.88+12727G>A r.(=) p.(=) - likely benign g.71693943G>A g.71466813G>A - - DYSF_000414 - PubMed: Krahn 2009 - rs61333801 Germline - 1/26 patients, 5/26 patients - - - Svetlana Gorokhova
+/. 1 1i_40i c.89-643_4411-2493del r.89_4410del p.Val31Glyfs*29 - pathogenic (recessive) g.71707370_71868602del g.71480240_71641472del 89_4410del - DYSF_000176 potential translation initiation at c.23 giving 632AA miniDYSF (73 kD) PubMed: Krahn 2010 - - Germline - - - - - Svetlana Gorokhova
-/. 1 2 c.89-49G>T r.(?) p.(=) - benign g.71707964G>T g.71480834G>T - - DYSF_001077 - PubMed: Cacciottolo 2011 - - Germline - - - - - Johan den Dunnen
-/. 2 1i c.89-29C>G r.(=) p.(=) - benign g.71707984C>G g.71480854C>G - - DYSF_000411 pathogenicity excluded through F1.104.1 PubMed: Nguyen 2007, PubMed: Krahn 2008 - - Germline - - - - - Svetlana Gorokhova
?/. 1 1i c.89-3T>C r.(spl?) p.(?) - VUS g.71708010T>C g.71480880T>C - - DYSF_000114 not in 176 control chromosomes - - - Germline - - - - - Rosário dos Santos
?/. 2 - c.89-2A>G r.spl p.? ACMG VUS g.71708011A>G g.71480881A>G - - DYSF_001286 - Zhong 2021, submitted - - Germline - - - - - Huahua Zhong
+/. 1 - c.89-1G>A r.spl p.? ACMG pathogenic (recessive) g.71708012G>A g.71480882G>A - - DYSF_001063 ACMG PVS1, PP1-S, PM2, PM3, PM4, PP1-M, PP1, PP3, PP4 PubMed: Monies 2016 - - Germline - - - - - Johan den Dunnen
+/. 2 1i c.89-1G>C r.spl p.? - pathogenic (recessive) g.71708012G>C g.71480882G>C - - DYSF_001120 - Izumi 2020 (submitted) - - Germline - - - - - Rumiko Izumi
+/. 1 1i_2i c.(88+1_89-1)_(144+1_145-1)del r.? p.? - pathogenic (recessive) g.(71681217_71708012)_(71708069_71709008)del g.(71454087_71480882)_(71480939_71481878)del deletion ex2 - DYSF_001147 - PubMed: Jin 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 1i_5i c.(88+1_89-1)_(457+1_458-1)del r.89_457del p.Gly30_Ala152del - pathogenic (recessive) g.(71681217_71708012)_(71739052_71740845)del - - - DYSF_001024 - PubMed: Ten Dam 2019 - - Germline - - - - - Ieke Ginjaar
+/. 1 2 c.91del r.spl? p.(Val31*) - pathogenic (recessive) g.71708015del g.71480885del 90del - DYSF_001213 - PubMed: Magri 2015 - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.94A>T r.(?) p.(Lys32*) - pathogenic (recessive) g.71708018A>T g.71480888A>T - - DYSF_001078 - PubMed: Cacciottolo 2011, PubMed: Magri 2015 - - Germline - - - - - Johan den Dunnen
+/. 1 2 c.105del r.(?) p.(Val37Serfs*6) - pathogenic (recessive) g.71708029del g.71480899del 105delC - DYSF_000184 - PubMed: Ro 2004 - - Germline - - - - - Johan den Dunnen
+/. 9 2 c.107_108del r.(?) p.(Lys36Serfs*12) ACMG pathogenic, pathogenic (recessive) g.71708031_71708032del g.71480901_71480902del 107_108delAA - DYSF_000037 ACMG PVS1, PM2, PM3, PP4 moderate, PP1 supporting; classification updated, from website {DBsub-Emory} PubMed: Klinge 2010, PubMed: Krahn 2008, Journal: Charnay 2021, PubMed: Nallamilli 2018 - - Germline, Unknown - - - - - Johan den Dunnen, Ann Curtis, Madhuri Hegde, Svetlana Gorokhova
+?/. 1 2 c.115_125dup r.(?) p.(Asn43Argfs*4) - likely pathogenic (recessive) g.71708039_71708049dup g.71480909_71480919dup - - DYSF_000371 - - - - Germline - - - - - Tom Winder
?/. 2 2 c.124G>A r.(?) p.(Val42Met) - VUS g.71708048G>A g.71480918G>A - - DYSF_000738 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 2 c.129C>A r.(?) p.(Asn43Lys) - VUS g.71708053C>A g.71480923C>A - - DYSF_000739 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/., ?/. 2 2 c.136T>C r.(?) p.(Trp46Arg) ACMG pathogenic (recessive), VUS g.71708060T>C g.71480930T>C - - DYSF_000652 - Zhong 2021, submitted, PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - Pieter Klap, Huahua Zhong
+/. 3 2 c.140_143dup r.(?) p.(Gly49*), p.(Gly49Ter) ACMG pathogenic, pathogenic (recessive) g.71708064_71708067dup g.71480934_71480937dup - - DYSF_000650 no variant found on 2nd allele Zhong 2021, submitted, PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - Pieter Klap, Huahua Zhong
+/. 6 2i c.144+1G>A r.spl p.? ACMG pathogenic, pathogenic (recessive) g.71708069G>A g.71480939G>A - - DYSF_000443 no variant found on 2nd allele Zhong 2021, submitted, PubMed: Jin 2016, PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen, Huahua Zhong
-/. 4 2i c.144+46del r.(=) p.(=) - benign g.71708114del g.71480984del 144+46delG - DYSF_000375 pathogenicity excluded through F1.65.2.1 PubMed: Krahn 2008 - - Germline - - - - - Svetlana Gorokhova
?/. 1 2i_3i c.(144+1_145-1)_(236+1_237-1)del r.? p.? ACMG VUS g.(71708069_71709008)_(71709101_71730343)del g.(71480939_71481878)_(71481971_71503213)del del ex3 - DYSF_001287 - Zhong 2021, submitted - - Germline - - - - - Huahua Zhong
+/. 2 3 c.154T>C r.(?), r.154u>c p.(Trp52Arg), p.Trp52Arg ACMG likely pathogenic, pathogenic (recessive) g.71709018T>C g.71481888T>C - - DYSF_000305 ACMG PM2, PP4 moderate, PP3, PM3 supporting; classification updated not in 200 control alleles, 1 more item PubMed: De Luna 2006, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - Johan den Dunnen, Svetlana Gorokhova
+/. 2 3 c.156G>A r.(?) p.(Trp52*), p.(Trp52Ter) ACMG pathogenic, pathogenic (recessive) g.71709020G>A g.71481890G>A - - DYSF_000740 - Zhong 2021, submitted, PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde, Huahua Zhong
+/. 8 3 c.164dup r.(?) p.(IIle57Hisfs*8), p.(Ile57Hisfs*8) ACMG pathogenic (recessive) g.71709028dup g.71481898dup 164dup, 164dupA, NM_003494:c.164_165insA - DYSF_000010 ACMG PVS1, PP1-S, PM2, PM3, PM4, PP1-M, PP1, PP3, PP4 PubMed: Algahtani 2018, PubMed: Liu, PubMed: Aoki, PubMed: Monies 2016 ClinVar-217222 rs863225020 Germline - - - - - Johan den Dunnen, Tom Winder
+/. 3 3 c.175del r.(?) p.(Leu59Trpfs*92) - pathogenic (recessive) g.71709039del g.71481909del 175delC - DYSF_000466 - Izumi 2020 (submitted), PubMed: Klinge 2010 - - Germline - - - - - Johan den Dunnen, Rumiko Izumi
+/. 3 3 c.176del r.(?) p.(Leu59Argfs*92), p.(Leu59ArgfsTer92) ACMG pathogenic, pathogenic (recessive) g.71709040del g.71481910del 176delT, c.176delT - DYSF_001149 - Zhong 2021, submitted, PubMed: Jin 2016, PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen, Huahua Zhong
+/., +?/. 5 3 c.200_201delinsAT r.(?) p.(Val67Asp) - pathogenic (recessive) g.71709064_71709065delinsAT g.71481934_71481935delinsAT - - DYSF_000071 - PubMed: Illarioshkin 2000, OMIM:var0009, PubMed: Umakhanova 2017 - - Germline yes - RcaI+ - - Johan den Dunnen
?/. 1 3 c.202G>C r.(?) p.(Val68Leu) - VUS g.71709066G>C g.71481936G>C - - DYSF_000741 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.206T>G r.(?) p.(Val69Gly) - VUS g.71709070T>G g.71481940T>G - - DYSF_000742 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 3 c.221C>T r.(?) p.(Thr74Met) - VUS g.71709085C>T g.71481955C>T - - DYSF_000743 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 3 3i c.236+1G>T r.143_236del, r.spl p.?, p.Gly51Valfs*17 - pathogenic (recessive) g.71709101G>T g.71481971G>T - - DYSF_000469 not in 200 control chromosomes Izumi 2020 (submitted), PubMed: Liewluck 2009 - - Germline - - - - - Johan den Dunnen, Rumiko Izumi
-/. 5 3i c.236+20G>A r.(=), r.(?) p.(=) - benign g.71709120G>A g.71481990G>A DYSF(NM_001130981.2):c.236+20G>A - DYSF_000380 from website {DBsub-Emory}, pathogenicity excluded throughpatient F1-111-2-2, 1 more item PubMed: Krahn 2008 - rs12470028 CLASSIFICATION record, Germline, Unknown - - - - - Madhuri Hegde, VKGL-NL_Nijmegen, VKGL-NL_AMC, Svetlana Gorokhova
?/. 1 3i c.236+31C>G r.(?) p.(=) - VUS g.71709131C>G g.71482001C>G - - DYSF_000496 from website {DBsub-Emory} - - - Unknown - - - - - Madhuri Hegde
+/. 2 - c.(?_238)_(906_?)del r.? p.? - pathogenic (recessive) g.(?_71730345)_(71744169_?)del - chr2:71730345-71744169 - DYSF_001216 13.8 kb deletion PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
+/. 4 4 c.247del r.(?) p.(Glu83Lysfs*68) ACMG pathogenic, pathogenic (recessive) g.71730354del g.71503224del 247delG - DYSF_000169 ACMG PVS1, PM2, PP1 supporting, PP4 supporting; classification updated Izumi 2020 (submitted), PubMed: Nguyen 2005, Journal: Charnay 2021, 1 more item - - Germline - - - - - Svetlana Gorokhova, Rumiko Izumi
+/. 1 - c.247dup r.(?) p.(Glu83Glyfs*14) - pathogenic (recessive) g.71730354dup g.71503224dup 247dupG - DYSF_000418 - PubMed: Schröder 2013 - - Germline - - - - - Johan den Dunnen
?/. 1 4 c.251C>T r.(?) p.(Ala84Val) ACMG VUS g.71730358C>T g.71503228C>T - - DYSF_000382 initially listed as benign, reclassified as VUS (PM2 only) PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - Svetlana Gorokhova
+/. 4 4 c.252del r.(?) p.(Lys85Argfs*66), p.(Lys85ArgfsTer66) ACMG pathogenic, pathogenic (recessive) g.71730359del g.71503229del 252delC, c.252delC - DYSF_001150 - Zhong 2021, submitted, PubMed: Jin 2016, PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen, Huahua Zhong
+/., ?/. 16 4 c.265C>T r.(?), r.265c>u p.(Arg89*), p.(Arg89Ter), p.Arg89* ACMG pathogenic, pathogenic (recessive), VUS g.71730372C>T g.71503242C>T - - DYSF_000187 1 heterozygous, no homozygous; Clinindb (India), 2 Variants detected in DYSF, 2 more items Izumi 2020 (submitted), Zhong 2021, submitted, PubMed: Jin 2016, PubMed: Liewluck 2009, PubMed: Walter, 5 more items - rs794727636 Germline - 1/2795 individuals - - - Johan den Dunnen, Madhuri Hegde, Pieter Klap, Svetlana Gorokhova, Rumiko Izumi, Mohammed Faruq, Huahua Zhong
?/. 1 4 c.308C>T r.(?) p.(Ala103Val) - VUS g.71730415C>T g.71503285C>T - - DYSF_000744 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., ?/. 5 4 c.313dup r.(?) p.(Leu105Profs*43), p.(Leu105ProfsTer43) ACMG pathogenic (recessive), VUS g.71730420dup g.71503290dup 313dupC, c.308dupC - DYSF_000240 - Zhong 2021, submitted, PubMed: Brummer 2005, PubMed: Jin 2016, PubMed: Yu 2017 - - Germline - - - - - Johan den Dunnen, Huahua Zhong
+/., +?/. 2 4 c.329del r.(?) p.(Lys110Serfs*41), p.(Lys110SerfsTer41) ACMG likely pathogenic, pathogenic (recessive) g.71730436del g.71503306del - - DYSF_000648 - Zhong 2021, submitted, PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - Pieter Klap, Huahua Zhong
+/., +?/. 12 4 c.331C>T r.(?) p.(Gln111*) ACMG likely pathogenic, pathogenic, pathogenic (recessive) g.71730438C>T g.71503308C>T NM_001130987.1:c.334C>T - DYSF_000246 ACMG PVS1, PM2, PM3, PP4 moderate; classification updated, ACMG PVS1, PM2, PP3, PP5, 2 more items PubMed: Cacciottolo 2011, PubMed: Krahn 2008, Journal: Charnay 2021, PubMed: Magri 2015, 3 more items - rs746315830 Germline - 2/1001 cases - - - Johan den Dunnen, Lab Müller-Reible, Madhuri Hegde, Svetlana Gorokhova
+/. 3 4 c.339del r.(?) p.(Ala115Profs*36), p.(Ala115ProfsTer36) ACMG pathogenic, pathogenic (recessive) g.71730446del g.71503316del 339delA - DYSF_000745 variant apparently homozygous Zhong 2021, submitted, PubMed: Jin 2016, PubMed: Nallamilli 2018 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde, Huahua Zhong
+/. 1 4 c.342+1del r.spl p.? - pathogenic (recessive) g.71730450del g.71503320del 342+1delG - DYSF_000746 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 3 4i, i4 c.342+1G>A r.spl, r.spl? p.? ACMG pathogenic (recessive) g.71730450G>A g.71503320G>A - - DYSF_001079 ACMG PVS1, PM2, PP1 moderate, PP4 supporting, PM3 supporting Journal: Charnay 2021, PubMed: Nishikawa 2016, PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline yes - - - - Johan den Dunnen, Svetlana Gorokhova, Rumiko Izumi
+/. 1 4i c.342+5G>A r.spl? p.? ACMG likely pathogenic (recessive) g.71730454G>A g.71503324G>A - - DYSF_001243 ACMG PM2, PM3, PP4 moderate, PP3 Journal: Charnay 2021 - - Germline yes - - - - Svetlana Gorokhova
-/. 2 4i c.343-29A>G r.(?), r.(spl?) p.(=), p.(?) - benign g.71738908A>G g.71511778A>G - - DYSF_000387 from website {DBsub-Emory}, 1 more item PubMed: Krahn 2008 - - Germline, Unknown - - - - - Madhuri Hegde, Svetlana Gorokhova
+?/. 1 - c.343-17C>G r.(?) p.(?) - likely pathogenic g.71738920C>G - - - DYSF_001357 - - - - Unknown - - - - - MobiDetails
+/. 1 4i_5i c.(342+1_343-1)_(457+1_458-1)del r.(del) p.(fs*?) - pathogenic (recessive) g.(71730450_71738936)_(71739052_71740845)del g.(71503320_71511806)_(71511922_71513715)del - - DYSF_000369 - PubMed: Krahn 2009 - - Germline - - - - - Svetlana Gorokhova
+/. 1 4i_10i c.(342+1_343-1)_(937+1_938-1)del r.? p.? - pathogenic (recessive) g.(71730450_71738936)_(71747339_71747918)del g.(71503320_71511806)_(71520209_71520788)del del ex5-10 - DYSF_001058 - PubMed: Vincent 2016 - - Germline - - - - - Johan den Dunnen
+/. 1 4i_41i c.(342+1_343-1)_(4509+1_4510-1)dup r.? p.? - pathogenic (recessive) g.(71730450_71738936)_(71871194_71883291)dup g.(71503320_71511806)_(71644064_71656161)dup dup ex6-44 - DYSF_001052 exon nr includes 58 exons PubMed: Di 2017 - - Germline - - - - - Johan den Dunnen
+/. 2 5 c.347_350dup r.(?) p.(Val118Alafs*31), p.(Val118AlafsTer31) ACMG pathogenic, pathogenic (recessive) g.71738941_71738944dup g.71511811_71511814dup 347_350dupCGCT - DYSF_000649 - Zhong 2021, submitted, PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - Pieter Klap, Huahua Zhong
+/. 4 5 c.353del r.(?) p.(Val118Alafs*33) - pathogenic (recessive) g.71738947del g.71511817del 353delT - DYSF_000128 from E-mail request, from website {DBsub-Emory}, not in 78 control chromosomes PubMed: Rosales 2010 - - Germline, Unknown - - - - - Johan den Dunnen, Rosário dos Santos, Madhuri Hegde
+/., +?/. 3 5 c.356T>C r.(?) p.(Leu119Pro) - likely pathogenic (recessive), pathogenic (recessive) g.71738950T>C g.71511820T>C - - DYSF_000000 - Izumi 2020 (submitted), PubMed: Izumi 2015, Izumi 2020 (submitted) - - Germline - - - - - Rumiko Izumi
+/. 1 5 c.358C>T r.(?) p.(Gln120*) - pathogenic (recessive) g.71738952C>T g.71511822C>T - - DYSF_000747 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 5 c.375G>T r.(?) p.(=) - VUS g.71738969G>T g.71511839G>T - - DYSF_000748 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., -/., -?/., ?/. 8 5 c.383G>A r.(?), r.383g>a p.(Gly128Glu), p.Gly128Glu ACMG benign, likely benign, pathogenic, pathogenic (recessive), VUS g.71738977G>A g.71511847G>A 1 more item - DYSF_000060 conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous; Clinindb (India), 2 more items Zhong 2021, submitted, PubMed: Cacciottolo 2011, PubMed: Narang 2020, Journal: Narang 2020 - rs34997054 CLASSIFICATION record, Germline, Unknown - 9/2794 individuals - - - Johan den Dunnen, Ann Curtis, Madhuri Hegde, VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Utrecht, Mohammed Faruq, Huahua Zhong
-/. 12 5 c.393C>T r.(?), r.393c>u p.(=), p.(Pro131=), p.= - benign g.71738987C>T g.71511857C>T 766C>T (P131P), DYSF(NM_001130981.2):c.393C>T (p.P131=) - DYSF_000119 from website {DBsub-Emory}, VKGL data sharing initiative Nederland PubMed: Kawabe 2004 - - CLASSIFICATION record, Germline, Unknown - 1/18, 11/80 - - - Johan den Dunnen, Ieke Ginjaar, Rosário dos Santos, Madhuri Hegde, VKGL-NL_AMC
?/. 1 5 c.401C>T r.(?) p.(Pro134Leu) - VUS g.71738995C>T g.71511865C>T - - DYSF_000417 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+?/. 1 5 c.407del r.(?) p.(Pro136Leufs*15) - likely pathogenic (recessive) g.71739001del g.71511871del 407delC - DYSF_000463 - - - - Germline - - - - - Tom Winder
+/. 1 5 c.418G>T r.(?) p.(Glu140*) - pathogenic (recessive) g.71739012G>T g.71511882G>T - - DYSF_001121 - Izumi 2020 (submitted) - - Germline - - - - - Rumiko Izumi
?/. 1 5 c.426C>T r.(?) p.(=) - VUS g.71739020C>T g.71511890C>T - - DYSF_000749 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 5 c.428C>A r.(?) p.(Pro143Gln) - VUS g.71739022C>A g.71511892C>A - - DYSF_000750 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 5 c.429G>A r.(?) p.(=) - VUS g.71739023G>A g.71511893G>A - - DYSF_000751 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
?/. 1 5 c.438T>C r.(?) p.(=) - VUS g.71739032T>C g.71511902T>C - - DYSF_000752 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 2 5i c.457+1dup r.spl p.? ACMG pathogenic g.71739052dup g.71511922dup 457+1dupG - DYSF_000334 ACMG PVS1, PM2, PP4 moderate, PP1 supporting, PM3 supporting; classification updated, 1 more item PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - Svetlana Gorokhova
+/. 2 5 c.457+1G>A r.spl p.? - pathogenic (recessive) g.71739052G>A g.71511922G>A - - DYSF_000753 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 3 5, 5i c.457+2T>G r.(343_457del), r.spl p.(fs), p.? - pathogenic (recessive) g.71739053T>G g.71511923T>G IVS5+2T>G - DYSF_000195 Inconclusive, skipping exon 5 PubMed: Cagliani 2005, PubMed: Guglieri 2007, PubMed: Magri 2015, PubMed: Nallamilli 2018 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde
-/., -?/., ?/. 6 5i c.457+17G>C r.(=), r.(?), r.(spl?) p.(=) - benign, likely benign, VUS g.71739068G>C g.71511938G>C DYSF(NM_001130455.1):c.460+17G>C (p.(=)), DYSF(NM_001130981.2):c.457+17G>C - DYSF_000272 from website {DBsub-Emory}, VKGL data sharing initiative Nederland PubMed: Krahn 2008 - - CLASSIFICATION record, Germline, Unknown - - - - - Ieke Ginjaar, Madhuri Hegde, VKGL-NL_Leiden, VKGL-NL_AMC, Svetlana Gorokhova
-/. 1 5 c.457+82C>T r.(?) p.(=) - benign g.71739133C>T g.71512003C>T - - DYSF_001080 - PubMed: Cacciottolo 2011 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.458-457C>A r.(=) p.(=) - likely benign g.71740389C>A g.71513259C>A DYSF(NM_001130981.2):c.477C>A (p.A159=) - DYSF_001066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.458-385G>A r.(=) p.(=) - VUS g.71740461G>A g.71513331G>A DYSF(NM_001130981.1):c.549G>A (p.T183=) - DYSF_001067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.458-374G>A r.(=) p.(=) - likely benign g.71740472G>A g.71513342G>A DYSF(NM_001130979.1):c.550+10G>A (p.(=)), DYSF(NM_001130981.1):c.550+10G>A - DYSF_000659 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/., ?/. 2 6 c.463G>A r.(?) p.(Gly155Arg) - pathogenic (recessive), VUS g.71740851G>A g.71513721G>A - - DYSF_000335 no second variant, not in 200 control alleles; UMD-Predictor score 82 (deleterious) PubMed: Krahn 2008, PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde, Svetlana Gorokhova
?/. 1 6 c.469G>A r.(?) p.(Glu157Lys) - VUS g.71740857G>A g.71513727G>A - - DYSF_000754 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/., ?/. 3 6 c.482_483del r.(?) p.(Glu161Glyfs*8), p.(Glu161GlyfsTer8) ACMG pathogenic (recessive), VUS g.71740870_71740871del g.71513740_71513741del 482_483delAG - DYSF_000646 variant apparently homozygous Zhong 2021, submitted, PubMed: Nallamilli 2018, PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - - - Madhuri Hegde, Pieter Klap, Huahua Zhong
+/. 3 6 c.490G>T r.(?) p.(Gly164*) ACMG pathogenic g.71740878G>T g.71513748G>T - - DYSF_000406 ACMG PVS1, PM2, PP4 moderate, PP1 supporting, PM3 supporting; classification updated PubMed: Krahn 2008, Journal: Charnay 2021, 1 more item - - Germline - - - - - Svetlana Gorokhova
+/. 4 6 c.493del r.(?) p.(Leu165Serfs*62) - pathogenic (recessive) g.71740881del g.71513751del 493delC - DYSF_001081 - Izumi 2020 (submitted), PubMed: Nishikawa 2016, PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - Johan den Dunnen, Rumiko Izumi
+/. 1 45 c.502del r.(?) p.(Asp168Metfs*59) - pathogenic (recessive) g.71740890del g.71513760del 502delT - DYSF_000755 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
-/. 1 6 c.504T>C r.(?) p.(=) - benign g.71740892T>C g.71513762T>C - - DYSF_000061 - - - - Germline - - - - - Ann Curtis
?/. 1 - c.505del r.(?) p.(Glu169ArgfsTer58) ACMG VUS g.71740893del g.71513763del - - DYSF_001288 - Zhong 2021, submitted - - Germline - - - - - Huahua Zhong
+/., -/., -?/., ?/. 11 6 c.509C>A r.(?), r.509c>a p.(Ala170Glu), p.Ala170Glu ACMG benign, likely benign, pathogenic (recessive), VUS g.71740897C>A g.71513767C>A DYSF(NM_001130981.2):c.602C>A (p.A201E) - DYSF_000117 15 heterozygous, no homozygous; Clinindb (India), ACMG BS1, BP2, initially reported as pathogenic, 1 more item Haldane, MDC2004 (P03), PubMed: Cagliani 2005, PubMed: Klinge 2010, PubMed: Krahn 2008, 2 more items - rs34999029 CLASSIFICATION record, Germline - 15/2795 individuals - - - Johan den Dunnen, Ieke Ginjaar, Rosário dos Santos, Ann Curtis, VKGL-NL_Utrecht, VKGL-NL_AMC, Svetlana Gorokhova, Mohammed Faruq
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