Full data view for gene DYSF

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.

65 entries on 1 page. Showing entries 1 - 65.
Legend   How to query  

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     
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A IVS25+1G>A - DYSF_000066 - PubMed: Tagawa - - Germline - - - - - DNA SEQ, SSCA - - LGMD 12767493-Pat15 PubMed: Tagawa - - - Japan - - - - - 1 Johan den Dunnen
+/. 25i c.2643+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.71795213G>A g.71568083G>A IVS25+1G>A - DYSF_000066 - PubMed: Tagawa - - Germline - - - - - DNA SEQ, SSCA - - LGMD 12767493-Pat15 PubMed: Tagawa - - - Japan - - - - - 1 Johan den Dunnen
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A 3016+1G>A - DYSF_000066 - PubMed: Matsuda - - Germline - - - - - DNA SEQ, SSCA - - LGMD 11532985-PatL1 PubMed: Matsuda - - - Japan - - - - - 1 Johan den Dunnen
+/. 25i c.2643+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.71795213G>A g.71568083G>A 3016+1G>A - DYSF_000066 - PubMed: Matsuda - - Germline - - - - - DNA SEQ, SSCA - - LGMD 11532985-PatL1 PubMed: Matsuda - - - Japan - - - - - 1 Johan den Dunnen
+/. 25i c.2643+1G>A r.2512_2643del p.Tyr838_Thr881del Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MMD - - sibs F;M - Portugal - >54y - - - 1 Rosário dos Santos
+/. 25i c.2643+1G>A r.2512_2643del p.Tyr838_Thr881del Parent #2 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - - - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - MMD - - sibs F;M - Portugal - >54y - - - 1 Rosário dos Santos
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - Rao, Am.J.Hum.Genet. 71: S427 - - Germline - - - - - DNA SEQ - - LGMD - Rao, Am.J.Hum.Genet. 71: S427 - - - - - - - - - 1 Johan den Dunnen
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - - - - Germline - - - - - DNA SEQ, SSCA - - MMD - - - - - United States - - - - - 1 Rosário dos Santos
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A IVS25+1G>A - DYSF_000066 - PubMed: Takahashi 2003, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ, SSCA - - MMD - PubMed: Takahashi 2003, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 25i c.2643+1G>A r.spl p.? Parent #1 ACMG pathogenic g.71795213G>A g.71568083G>A - - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate; classification updated PubMed: Nguyen 2005, PubMed: Nguyen 2007, PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MYOP - PubMed: Nguyen 2005, PubMed: Nguyen 2007, PubMed: Krahn 2008 dysOU F - France African - - - - 1 Svetlana Gorokhova
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A IVS25+1G>A - DYSF_000066 - PubMed: Nagashima,PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ, SSCA - - LGMD -/Dys114-1 PubMed: Nagashima, PubMed: Takahashi 2013, Izumi 2020 (submitted) - M - Japan Honshu Island - - - - 1 Rumiko Izumi
+/. 25i c.2643+1G>A r.spl p.? Parent #1 ACMG pathogenic (recessive) g.71795213G>A g.71568083G>A IVS25+1G>A - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA DHPLC, SEQ - - LGMD - PubMed: Krahn 2008 - F yes France - - - - - 1 Svetlana Gorokhova
+/. 25i c.2643+1G>A r.spl p.? Parent #2 ACMG pathogenic (recessive) g.71795213G>A g.71568083G>A IVS25+1G>A - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA DHPLC, SEQ - - LGMD - PubMed: Krahn 2008 - F yes France - - - - - 1 Svetlana Gorokhova
+/. 25i c.2643+1G>A r.spl p.? Parent #1 ACMG pathogenic g.71795213G>A g.71568083G>A IVS25+1G>A - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - M yes - Maghreb - - - - 1 Svetlana Gorokhova
+/. 25i c.2643+1G>A r.spl p.? Parent #2 ACMG pathogenic g.71795213G>A g.71568083G>A IVS25+1G>A - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - M yes - Maghreb - - - - 1 Svetlana Gorokhova
+/. 25i c.2643+1G>A r.spl p.? Parent #1 ACMG pathogenic g.71795213G>A g.71568083G>A IVS25+1G>A - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - F - - Maghreb - - - - 1 Svetlana Gorokhova
+/. 25i c.2643+1G>A r.spl p.? Parent #2 ACMG pathogenic g.71795213G>A g.71568083G>A IVS25+1G>A - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - F - - Maghreb - - - - 1 Svetlana Gorokhova
+/. 25i c.2643+1G>A r.spl p.? Parent #1 ACMG pathogenic g.71795213G>A g.71568083G>A IVS25+1G>A - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - M yes - Maghreb - - - - 1 Svetlana Gorokhova
+/. 25i c.2643+1G>A r.spl p.? Parent #2 ACMG pathogenic g.71795213G>A g.71568083G>A IVS25+1G>A - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - M yes - Maghreb - - - - 1 Svetlana Gorokhova
+/. 25 c.2643+1G>A r.spl p.? Parent #2 ACMG pathogenic g.71795213G>A g.71568083G>A IVS25+1G>A - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate; classification updated PubMed: Krahn 2008, Journal: Charnay 2021 - - Germline - - - - - DNA SEQ - - MMD - PubMed: Krahn 2008 - F - Iran - - - - - 1 Svetlana Gorokhova
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nagaraju 2008 - - Germline - - - - - DNA DHPLC, SEQ - - ? 18276788-Pat10 PubMed: Nagaraju 2008 - F - United States - - - - - 1 Johan den Dunnen
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Kesari 2008 - - Germline - - - - - DNA DHPLC, SEQ - - ? 18832576-PatD17 PubMed: Kesari 2008 - F - (United States) - >26y - - - 1 Johan den Dunnen
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Rosales 2010 - - Germline - - - - - DNA SEQ - - MYOP 20544924-Pat01 PubMed: Rosales 2010 - M - (United States) - - - - - 1 Johan den Dunnen
+/. 25i c.2643+1G>A r.spl p.? Unknown - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 from website {DBsub-Emory} - - - Unknown - - - - - DNA SEQ - - ? Emory-? - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25 c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 variant apparently homozygous; consistent with diagnosis LGMD PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.2643+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.2643+1G>A r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Izumi 2015, Izumi 2020 (submitted) - rs140108514 Germline - - - - - DNA SEQ, SEQ-NG - 42 gene panel MD Dys207-1 PubMed: Izumi 2015, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. - c.2643+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Nishikawa 2016 - - Germline - - - - - DNA SEQ - - MD Pat PubMed: Nishikawa 2016 - - - Japan - - - - - 1 Johan den Dunnen
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD Pat4 PubMed: Takahashi 2013, Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 25i c.2643+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Suzuki 2012, PubMed: Takahashi 2013, Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ - - MD -/Pat39 PubMed: Suzuki 2012, PubMed: Takahashi 2013, Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+?/. - c.2643+1G>A r.spl p.? Parent #1 - likely pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - - - DNA SEQ, SEQ-NG - gene panel LGMD Pat12 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - - - - 1 Johan den Dunnen
+?/. - c.2643+1G>A r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - - - DNA SEQ, SEQ-NG - gene panel, WES MYOP Pat13 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - - - - 1 Johan den Dunnen
+/. 25i c.2643+1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-265 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 25i c.2643+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD N28 Izumi 2020 (submitted) - F - Japan - - - - - 1 Rumiko Izumi
+/. 25i c.2643+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 - Izumi 2020 (submitted) - - Germline - - - - - DNA SEQ-NG - - MD Dys-287 Izumi 2020 (submitted) - M - Japan - - - - - 1 Rumiko Izumi
+/. 25i c.2643+1G>A r.spl p.? Paternal (confirmed) ACMG pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - LGMDR2;LGMD2B - Journal: Charnay 2021 - F - France - - - - - 1 Svetlana Gorokhova
+/. i25 c.2643+1G>A r.spl? p.? Unknown ACMG pathogenic (recessive) g.71795213G>A - - - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - M - France - - - - - 1 Svetlana Gorokhova
+/. i25 c.2643+1G>A r.spl? p.? Unknown ACMG pathogenic (recessive) g.71795213G>A - - - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - F - France - - - - - 1 Svetlana Gorokhova
+/. i25 c.2643+1G>A r.spl? p.? Both (homozygous) ACMG pathogenic (recessive) g.71795213G>A - - - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - M - France - - - - - 1 Svetlana Gorokhova
+/. i25 c.2643+1G>A r.spl? p.? Both (homozygous) ACMG pathogenic (recessive) g.71795213G>A - - - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - F - France - - - - - 1 Svetlana Gorokhova
+/. i25 c.2643+1G>A r.spl? p.? Both (homozygous) ACMG pathogenic (recessive) g.71795213G>A - - - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - M - France - - - - - 1 Svetlana Gorokhova
+/. i25 c.2643+1G>A r.spl? p.? Unknown ACMG pathogenic (recessive) g.71795213G>A - - - DYSF_000066 ACMG PM3 very strong, PVS1 moderate, PP4 moderate, PP1 moderate Journal: Charnay 2021 - - Germline yes - - - - DNA SEQ - - MMD - Journal: Charnay 2021 - F - France - - - - - 1 Svetlana Gorokhova
+/. - c.2643+1G>A r.spl p.? Parent #2 ACMG pathogenic g.71795213G>A g.71568083G>A - - DYSF_000066 ACMG PVS1, PP3, PM2, PM3_sup PubMed: Zhong 2021, Journal: Zhong 2021 - rs140108514 Germline - 1/245 individuals LGMD2B - - - DNA SEQ-NG - MD gene panel MD Pat99 PubMed: Zhong 2021, Journal: Zhong 2021 - M - China - - - - - 1 Huahua Zhong
+/. - c.2643+1G>A r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 ACMG ​PVS1 PM2 PP5  PubMed: Cavdarli 2023 - rs140108514 Germline - - - - - DNA SEQ, SEQ-NG - gene panel NMD D16 PubMed: Cavdarli 2023 analysis 146 neuromuscular disease patients M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.2643+1G>A r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.71795213G>A g.71568083G>A - - DYSF_000066 ACMG PVVS1 PM2 PP5  PubMed: Cavdarli 2023 - rs140108514 Germline - - - - - DNA SEQ, SEQ-NG - 47-gene panel MD D16 PubMed: Cavdarli 2023 analysis 67 patients muscular dystrophy/myopathy (not DMD) M - Turkey - - - - - 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.