All 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.

4181 entries on 42 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     
+/. _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 - - - 0 - Ieke Ginjaar
?/. _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 - - - 0 - Johan den Dunnen
+/. _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 - - - 0 - Johan den Dunnen
-/. 1 c.-118C>T r.(?) p.(=) - benign g.71681011C>T g.71453881C>T 1-118C>T - DYSF_001075 - PubMed: Cacciottolo 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 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 - - - 0 - Johan den Dunnen
+/. 50i c.(5667+1_5668-1)? r.5667_5668ins(180) p.? - pathogenic (recessive) g.(71896877_71901326)? - (5667+1_5668-1) - DYSF_000000 - Rao, Am.J.Hum.Genet. 71: S427 - - Germline - - - 0 - Johan den Dunnen
+/. 50i c.(5667+1_5668-1)? r.spl p.? - pathogenic (recessive) g.(71896877_71901326) - splie I-50 - DYSF_000000 - PubMed: Nagaraju 2008 - - Germline - - - 0 - Johan den Dunnen
-/. 2i c.145-181_145-150CCAT[4_9] r.(?) p.(=) - benign g.71708828_71708859CCAT[4_9] - - - DYSF_000156 marker Cy172-H32, heterozygosity 0.72 PubMed: Liu 1998 - - Germline - - - 0 - Johan den Dunnen
-/. 2i c.145-181_145-150CCAT[4_9] r.(?) p.(=) - benign g.71708828_71708859CCAT[4_9] - - - DYSF_000156 marker Cy172-H32 PubMed: Weiler 1999 - - Germline - - - 0 - Johan den Dunnen
-/. 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 - - - 0 - Johan den Dunnen
+/. - c.? r.? p.? - pathogenic (recessive) g.? g.? deletion at 3' end - DYSF_000000 - PubMed: Cacciottolo 2011 - - Germline - - - 0 - Johan den Dunnen
?/. 1 c.8G>A r.(?) p.(Arg3Lys) - VUS g.71681136G>A g.71454006G>A - - DYSF_000736 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.17T>A r.(?) p.(Ile6Asn) - VUS g.71681145T>A g.71454015T>A - - DYSF_000737 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 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 - - - 0 - Svetlana Gorokhova
+/. 1 c.75del r.(?) p.(Ala26Argfs*6) - pathogenic (recessive) g.71681203del g.71454073del 74delC - DYSF_000653 - PubMed: Shin 2015, Journal: Shin 2015 - - Germline - - - 0 - Pieter Klap
?/. 1i c.88+38G>T r.(?) p.(=) - VUS g.71681254G>T g.71454124G>T - - DYSF_000495 from website {DBsub-Emory} - - - Unknown - - - 0 - Madhuri Hegde
-/. 1 c.88+69C>T r.(?) p.(=) - benign g.71681285C>T g.71454155C>T - - DYSF_001076 - PubMed: Cacciottolo 2011 - - Germline - - - 0 - Johan den Dunnen
-?/. 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 - 0 - Svetlana Gorokhova
-?/. 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 - 0 - Svetlana Gorokhova
-?/. 1i c.88+12629G>A r.(=) p.(=) - likely benign g.71693845G>A g.71466715G>A - - DYSF_000413 - PubMed: Krahn 2009 - rs6752632 Germline - 5/26 patients - 0 - Svetlana Gorokhova
-?/. 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 - 0 - Svetlana Gorokhova
-?/. 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 - 0 - Svetlana Gorokhova
-?/. 1i c.88+12727G>A r.(=) p.(=) - likely benign g.71693943G>A g.71466813G>A - - DYSF_000414 - PubMed: Krahn 2009 - rs61333801 Germline - 5/26 patients - 0 - Svetlana Gorokhova
+/. 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 - - - 0 - Svetlana Gorokhova
-/. 2 c.89-49G>T r.(?) p.(=) - benign g.71707964G>T g.71480834G>T - - DYSF_001077 - PubMed: Cacciottolo 2011 - - Germline - - - 0 - Johan den Dunnen
-/. 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 - - - 0 - Svetlana Gorokhova
-/. 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 - - - 0 - Svetlana Gorokhova
?/. 1i c.89-3T>C r.(spl?) p.(?) - VUS g.71708010T>C g.71480880T>C - - DYSF_000114 not in 176 control chromosomes - - - Germline - - - 0 - Rosário dos Santos
?/. - c.89-2A>G r.spl p.? ACMG VUS g.71708011A>G g.71480881A>G - - DYSF_001286 - Zhong 2021, submitted - - Germline - - - 0 - Huahua Zhong
?/. - c.89-2A>G r.spl p.? ACMG VUS g.71708011A>G g.71480881A>G - - DYSF_001286 - Zhong 2021, submitted - - Germline - - - 0 - Huahua Zhong
+/. - 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 - - - 0 - Johan den Dunnen
+/. 1i c.89-1G>C r.spl p.? - pathogenic (recessive) g.71708012G>C g.71480882G>C - - DYSF_001120 - Izumi 2020 (submitted) - - Germline - - - 0 - Rumiko Izumi
+/. 1i c.89-1G>C r.spl p.? - pathogenic (recessive) g.71708012G>C g.71480882G>C - - DYSF_001120 - Izumi 2020 (submitted) - - Germline - - - 0 - Rumiko Izumi
+/. 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 - - - 0 - Johan den Dunnen
+/. 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 - - - 0 - Ieke Ginjaar
+/. 2 c.91del r.spl? p.(Val31*) - pathogenic (recessive) g.71708015del g.71480885del 90del - DYSF_001213 - PubMed: Magri 2015 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.94A>T r.(?) p.(Lys32*) - pathogenic (recessive) g.71708018A>T g.71480888A>T - - DYSF_001078 - PubMed: Cacciottolo 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.94A>T r.(?) p.(Lys32*) - pathogenic (recessive) g.71708018A>T g.71480888A>T - - DYSF_001078 - PubMed: Magri 2015 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.105del r.(?) p.(Val37Serfs*6) - pathogenic (recessive) g.71708029del g.71480899del 105delC - DYSF_000184 - PubMed: Ro 2004 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12) - pathogenic (recessive) g.71708031_71708032del g.71480901_71480902del - - DYSF_000037 - - - - Germline - - - 0 - Ann Curtis
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12) - pathogenic (recessive) g.71708031_71708032del g.71480901_71480902del - - DYSF_000037 - - - - Germline - - - 0 - Ann Curtis
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12) ACMG pathogenic g.71708031_71708032del g.71480901_71480902del - - DYSF_000037 ACMG PVS1, PM2, PM3, PP4 moderate, PP1 supporting; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - 0 - Svetlana Gorokhova
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12) ACMG pathogenic g.71708031_71708032del g.71480901_71480902del - - DYSF_000037 ACMG PVS1, PM2, PM3, PP4 moderate, PP1 supporting; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - 0 - Svetlana Gorokhova
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12) ACMG pathogenic g.71708031_71708032del g.71480901_71480902del - - DYSF_000037 ACMG PVS1, PM2, PM3, PP4 moderate, PP1 supporting; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - 0 - Svetlana Gorokhova
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12) - pathogenic (recessive) g.71708031_71708032del g.71480901_71480902del 107_108delAA - DYSF_000037 - PubMed: Klinge 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12) - pathogenic (recessive) g.71708031_71708032del g.71480901_71480902del 107_108delAA - DYSF_000037 - PubMed: Klinge 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12) - pathogenic (recessive) g.71708031_71708032del g.71480901_71480902del 107_108delAA - DYSF_000037 from website {DBsub-Emory} - - - Unknown - - - 0 - Madhuri Hegde
+/. 2 c.107_108del r.(?) p.(Lys36Serfs*12) - pathogenic (recessive) g.71708031_71708032del g.71480901_71480902del 107_108delAA - DYSF_000037 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. 2 c.115_125dup r.(?) p.(Asn43Argfs*4) - likely pathogenic (recessive) g.71708039_71708049dup g.71480909_71480919dup - - DYSF_000371 - - - - Germline - - - 0 - Tom Winder
?/. 2 c.124G>A r.(?) p.(Val42Met) - VUS g.71708048G>A g.71480918G>A - - DYSF_000738 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.124G>A r.(?) p.(Val42Met) - VUS g.71708048G>A g.71480918G>A - - DYSF_000738 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 2 c.129C>A r.(?) p.(Asn43Lys) - VUS g.71708053C>A g.71480923C>A - - DYSF_000739 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+?/. 2 c.136T>C r.(?) p.(Trp46Arg) - pathogenic (recessive) g.71708060T>C g.71480930T>C - - DYSF_000652 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - 0 - Pieter Klap
?/. - c.136T>C r.(?) p.(Trp46Arg) ACMG VUS g.71708060T>C g.71480930T>C - - DYSF_000652 - Zhong 2021, submitted - - Germline - - - 0 - Huahua Zhong
+/. 2 c.140_143dup r.(?) p.(Gly49*) - pathogenic (recessive) g.71708064_71708067dup g.71480934_71480937dup - - DYSF_000650 - PubMed: Xi 2014, Journal: Xi 2014 - - Germline - - - 0 - Pieter Klap
+/. - c.140_143dup r.(?) p.(Gly49Ter) ACMG pathogenic g.71708064_71708067dup g.71480934_71480937dup - - DYSF_000650 - Zhong 2021, submitted - - Germline - - - 0 - Huahua Zhong
+/. - c.140_143dup r.(?) p.(Gly49Ter) ACMG pathogenic g.71708064_71708067dup g.71480934_71480937dup - - DYSF_000650 no variant found on 2nd allele Zhong 2021, submitted - - Germline - - - 0 - Huahua Zhong
+/. 2i c.144+1G>A r.spl p.? - pathogenic (recessive) g.71708069G>A g.71480939G>A - - DYSF_000443 - PubMed: Jin 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 2i c.144+1G>A r.spl p.? - pathogenic (recessive) g.71708069G>A g.71480939G>A - - DYSF_000443 - PubMed: Jin 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.144+1G>A r.spl p.? - pathogenic (recessive) g.71708069G>A g.71480939G>A - - DYSF_000443 - PubMed: Yu 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.144+1G>A r.spl p.? ACMG pathogenic g.71708069G>A g.71480939G>A - - DYSF_000443 - Zhong 2021, submitted - - Germline - - - 0 - Huahua Zhong
+/. - c.144+1G>A r.spl p.? ACMG pathogenic g.71708069G>A g.71480939G>A - - DYSF_000443 - Zhong 2021, submitted - - Germline - - - 0 - Huahua Zhong
+/. - c.144+1G>A r.spl p.? ACMG pathogenic g.71708069G>A g.71480939G>A - - DYSF_000443 no variant found on 2nd allele Zhong 2021, submitted - - Germline - - - 0 - Huahua Zhong
-/. 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 - - - 0 - Svetlana Gorokhova
-/. 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 - - - 0 - Svetlana Gorokhova
-/. 2i c.144+46del r.(=) p.(=) - benign g.71708114del g.71480984del 144+46delG - DYSF_000375 - PubMed: Krahn 2008 - - Germline - - - 0 - Svetlana Gorokhova
-/. 2i c.144+46del r.(=) p.(=) - benign g.71708114del g.71480984del 144+46delG - DYSF_000375 - PubMed: Krahn 2008 - - Germline - - - 0 - Svetlana Gorokhova
?/. 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 - - - 0 - Huahua Zhong
+/. 3 c.154T>C r.154u>c p.Trp52Arg - pathogenic (recessive) g.71709018T>C g.71481888T>C - - DYSF_000305 not in 180 normal chromosomes PubMed: De Luna 2006 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.154T>C r.(?) p.(Trp52Arg) ACMG likely pathogenic g.71709018T>C g.71481888T>C - - DYSF_000305 ACMG PM2, PP4 moderate, PP3, PM3 supporting; classification updated not in 200 control alleles PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - 0 - Svetlana Gorokhova
+/. 3 c.156G>A r.(?) p.(Trp52*) - pathogenic (recessive) g.71709020G>A g.71481890G>A - - DYSF_000740 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. - c.156G>A r.(?) p.(Trp52Ter) ACMG pathogenic g.71709020G>A g.71481890G>A - - DYSF_000740 - Zhong 2021, submitted - - Germline - - - 0 - Huahua Zhong
+/. 3 c.164dup r.(?) p.(IIle57Hisfs*8) - pathogenic (recessive) g.71709028dup g.71481898dup 164dupA - DYSF_000010 - PubMed: Liu, PubMed: Aoki - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.164dup r.(?) p.(IIle57Hisfs*8) - pathogenic (recessive) g.71709028dup g.71481898dup 164dupA - DYSF_000010 - PubMed: Liu, PubMed: Aoki - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.164dup r.(?) p.(Ile57Hisfs*8) - pathogenic (recessive) g.71709028dup g.71481898dup 164dup - DYSF_000010 - - - - Germline - - - 0 - Tom Winder
+/. 3 c.164dup r.(?) p.(Ile57Hisfs*8) - pathogenic (recessive) g.71709028dup g.71481898dup 164dup - DYSF_000010 - - - - Germline - - - 0 - Tom Winder
+/. 3 c.164dup r.(?) p.(Ile57Hisfs*8) - pathogenic (recessive) g.71709028dup g.71481898dup 164dupA - DYSF_000010 - - - - Germline - - - 0 - Tom Winder
+/. 3 c.164dup r.(?) p.(Ile57Hisfs*8) - pathogenic (recessive) g.71709028dup g.71481898dup 164dupA - DYSF_000010 - - - - Germline - - - 0 - Tom Winder
+/. - c.164dup r.(?) p.(Ile57Hisfs*8) - pathogenic (recessive) g.71709028dup g.71481898dup 164dupA - DYSF_000010 - PubMed: Algahtani 2018 ClinVar-217222 rs863225020 Germline - - - 0 - Johan den Dunnen
+/. - c.164dup r.(?) p.(Ile57Hisfs*8) ACMG pathogenic (recessive) g.71709028dup g.71481898dup NM_003494:c.164_165insA - DYSF_000010 ACMG PVS1, PP1-S, PM2, PM3, PM4, PP1-M, PP1, PP3, PP4 PubMed: Monies 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.175del r.(?) p.(Leu59Trpfs*92) - pathogenic (recessive) g.71709039del g.71481909del 175delC - DYSF_000466 - PubMed: Klinge 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.175del r.(?) p.(Leu59Trpfs*92) - pathogenic (recessive) g.71709039del g.71481909del 175delC - DYSF_000466 - PubMed: Klinge 2010 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.175del r.(?) p.(Leu59Trpfs*92) - pathogenic (recessive) g.71709039del g.71481909del - - DYSF_000466 - Izumi 2020 (submitted) - - Germline - - - 0 - Rumiko Izumi
+/. 3 c.176del r.(?) p.(Leu59Argfs*92) - pathogenic (recessive) g.71709040del g.71481910del 176delT - DYSF_001149 - PubMed: Jin 2016 - - Germline - - - 0 - Johan den Dunnen
+/. - c.176del r.(?) p.(Leu59Argfs*92) - pathogenic (recessive) g.71709040del g.71481910del c.176delT - DYSF_001149 - PubMed: Yu 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.176del r.(?) p.(Leu59ArgfsTer92) ACMG pathogenic g.71709040del g.71481910del - - DYSF_001149 - Zhong 2021, submitted - - Germline - - - 0 - Huahua Zhong
+/. 3 c.200_201delinsAT r.(?) p.(Val67Asp) - pathogenic (recessive) g.71709064_71709065delinsAT g.71481934_71481935delinsAT - - DYSF_000071 - PubMed: Illarioshkin 2000, OMIM:var0009 - - Germline yes - RcaI+ 0 - Johan den Dunnen
+/. - c.200_201delinsAT r.(?) p.(Val67Asp) - pathogenic (recessive) g.71709064_71709065delinsAT g.71481934_71481935delinsAT - - DYSF_000071 - PubMed: Umakhanova 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.200_201delinsAT r.(?) p.(Val67Asp) - pathogenic (recessive) g.71709064_71709065delinsAT g.71481934_71481935delinsAT - - DYSF_000071 - PubMed: Umakhanova 2017 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.200_201delinsAT r.(?) p.(Val67Asp) - pathogenic (recessive) g.71709064_71709065delinsAT g.71481934_71481935delinsAT - - DYSF_000071 - PubMed: Umakhanova 2017 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.200_201delinsAT r.(?) p.(Val67Asp) - pathogenic (recessive) g.71709064_71709065delinsAT g.71481934_71481935delinsAT - - DYSF_000071 - PubMed: Umakhanova 2017 - - Germline yes - - 0 - Johan den Dunnen
?/. 3 c.202G>C r.(?) p.(Val68Leu) - VUS g.71709066G>C g.71481936G>C - - DYSF_000741 - PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.206T>G r.(?) p.(Val69Gly) - VUS g.71709070T>G g.71481940T>G - - DYSF_000742 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
?/. 3 c.221C>T r.(?) p.(Thr74Met) - VUS g.71709085C>T g.71481955C>T - - DYSF_000743 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - Madhuri Hegde
+/. 3i c.236+1G>T r.143_236del p.Gly51Valfs*17 - pathogenic (recessive) g.71709101G>T g.71481971G>T - - DYSF_000469 not in 200 control chromosomes PubMed: Liewluck 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 3i c.236+1G>T r.143_236del p.Gly51Valfs*17 - pathogenic (recessive) g.71709101G>T g.71481971G>T - - DYSF_000469 not in 200 control chromosomes PubMed: Liewluck 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 3i c.236+1G>T r.spl p.? - pathogenic (recessive) g.71709101G>T g.71481971G>T - - DYSF_000469 - Izumi 2020 (submitted) - - Germline - - - 0 - Rumiko Izumi
-/. - c.236+20G>A r.(=) p.(=) - benign g.71709120G>A g.71481990G>A DYSF(NM_001130981.2):c.236+20G>A - DYSF_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.236+20G>A r.(=) p.(=) - benign g.71709120G>A g.71481990G>A DYSF(NM_001130981.2):c.236+20G>A - DYSF_000380 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 3i c.236+20G>A r.(=) p.(=) - benign g.71709120G>A g.71481990G>A - - DYSF_000380 pathogenicity excluded throughpatient F1-111-2-2 PubMed: Krahn 2008 - rs12470028 Germline - - - 0 - Svetlana Gorokhova
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