Full data view for gene SGCD

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000337.5 transcript reference sequence.

277 entries on 3 pages. Showing entries 1 - 100.
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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     
+/. _1_6i c.-519_(502+1_503-1){0} r.0? p.0? Unknown - pathogenic (recessive) g.(?_155753767)_(156022062_156074473)del g.(?_156326757)_(156595052_156647463)del -519_502del - SGCD_000112 - PubMed: Alonso-Perez 2021 - - Germline - - - - - DNA SEQ - - LGMD Pat23 PubMed: Alonso-Perez 2021 - - - - - - - - - 1 Johan den Dunnen
?/. 1 c.-412A>T r.(?) p.(=) Paternal (inferred) - VUS g.155753874A>T g.156326864A>T - - SGCD_000038 father homozygous, mother heterozygous - - - Germline - - - - - DNA SEQ - - LGMD private email contact me for details - F no India - >25y - - - 1 Johan den Dunnen
?/. 1 c.-412A>T r.(?) p.(=) Maternal (inferred) - VUS g.155753874A>T g.156326864A>T - - SGCD_000038 father homozygous, mother heterozygous - - - Germline - - - - - DNA SEQ - - LGMD private email contact me for details - F no India - >25y - - - 1 Johan den Dunnen
?/. 1 c.-94C>G r.(?) p.(=) Unknown - VUS g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Honda 2007 - rs13170573 Germline - - - - - DNA TaqMan - - CMD - PubMed: Honda 2007 frequency hypertrophic cardiomyopathy patients with coronary spastic angina 17/31 GG, 12/31 GC and 2/31 CC - in CMH patients without CSA 26/31, 7/31 and 0/31 - - Japan - - - - - 1 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Paternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 12/23 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Triquis - - - - 12 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Maternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 12/23 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Triquis - - - - 12 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Paternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 5/24 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mayas - - - - 5 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Maternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 5/24 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mayas - - - - 5 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Paternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 6/25 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Zapotecos - - - - 6 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Maternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 6/25 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Zapotecos - - - - 6 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Paternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 13/41 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Nahuas - - - - 13 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Maternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 13/41 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Nahuas - - - - 13 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Paternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 12/52 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mixtecos - - - - 12 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Maternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 12/52 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mixtecos - - - - 12 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Paternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 19/100 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mestizos - - - - 19 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Maternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 19/100 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mestizos - - - - 19 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Parent #1 - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 7/23 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Triquis - - - - 7 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Parent #1 - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 12/12 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mayas - - - - 12 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Parent #1 - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 11/25 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Zapotecos - - - - 11 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Parent #1 - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 18/41 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Nahuas - - - - 18 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Parent #1 - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 29/52 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mixtecos - - - - 29 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Parent #1 - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 - PubMed: Ordonez-Razo 2010 - rs13170573 Germline - 53/100 - - - DNA SEQ - - ? - PubMed: Ordonez-Razo 2010 - - - Mexico Mestizos - - - - 53 Johan den Dunnen
-?/. 1 c.-94C>G r.(?) p.(=) Paternal (inferred) - likely benign g.155754192C>G g.156327182C>G - - SGCD_000027 father homozygous, mother heterozygous - - - Germline - - - - - DNA SEQ - - LGMD private email contact me for details - F no India - >25y - - - 1 Johan den Dunnen
?/. 1 c.-94C>G r.(?) p.(=) Maternal (inferred) - VUS g.155754192C>G g.156327182C>G - - SGCD_000027 father homozygous, mother heterozygous - - - Germline - - - - - DNA SEQ - - LGMD private email contact me for details - F no India - >25y - - - 1 Johan den Dunnen
-/. 1i c.-43-45C>A r.(=) p.(=) Parent #1 - benign g.155756499C>A g.156329489C>A -43-45A>C - SGCD_000029 - PubMed: Love - - Germline - 4/15 - - - DNA DHPLC - - - - - - - - - - - - - - - -
-/. 1i c.-43-44A>C r.(=) p.(=) Parent #1 - benign g.155756500A>C g.156329490A>C -43-45A>C - SGCD_000024 - PubMed: Sylvius - - Germline - 2/454 - - - DNA SEQ, SSCA - - ? - PubMed: Sylvius - - - - - - - - - 2 Johan den Dunnen
+/. 2 c.-14G>T r.(?) p.(=) Unknown - pathogenic g.155756573G>T g.156329563G>T CCTGGTCCATTCACTCAACACTCC - SGCD_000032 - - - - Germline - - - - - DNA SSCA - - CMD - - - M - India Bengalee - - - - 1 Kanchan Pathak
+/. ? c.? r.(spl?) p.(?) Both (homozygous) - pathogenic g.? - 233+5del - SGCD_000000 - PubMed: Khadlikar 2009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Khadlikar 2009 - - - India - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Parent #1 - pathogenic (recessive) g.? - c.712-?_813+?dup - SGCD_000000 no variant 2nd chromosome PubMed: Yu 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P129 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - - - - 1 Johan den Dunnen
+/. 2 c.1_3del r.spl? p.(Met1?) Paternal (confirmed) - pathogenic (recessive) g.155756587_155756589del g.156329577_156329579del - - SGCD_000113 - PubMed: Alonso-Perez 2021 - - Germline - - - - - DNA SEQ - - LGMD Pat6 PubMed: Alonso-Perez 2021 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.1_3del r.spl? p.(Met1?) Both (homozygous) - pathogenic (recessive) g.155756587_155756589del g.156329577_156329579del - - SGCD_000113 - PubMed: Alonso-Perez 2021 - - Germline - - - - - DNA SEQ - - LGMD Pat7 PubMed: Alonso-Perez 2021 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.1_3del r.spl? p.(Met1?) Both (homozygous) - pathogenic (recessive) g.155756587_155756589del g.156329577_156329579del - - SGCD_000113 - PubMed: Alonso-Perez 2021 - - Germline - - - - - DNA SEQ - - LGMD Pat8 PubMed: Alonso-Perez 2021 - - - - - - - - - 1 Johan den Dunnen
+/. 2 c.1_3del r.(?) p.(Met1?) Maternal (inferred) - pathogenic (recessive) g.155756587_155756589del g.156329577_156329579del - - SGCD_000113 - PubMed: Alonso-Perez 2021 - - Germline - - - - - DNA SEQ - - LGMD Pat6 PubMed: Alonso-Perez 2021 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.3+3G>A r.spl? p.? Unknown - likely benign g.155756592G>A - SGCD(NM_000337.5):c.3+3G>A - SGCD_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3+3G>C r.spl? p.? Unknown - VUS g.155756592G>C - SGCD(NM_000337.5):c.3+3G>C - SGCD_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3+11C>T r.(=) p.(=) Unknown - likely benign g.155756600C>T - SGCD(NM_000337.5):c.3+11C>T - SGCD_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3+14G>A r.(=) p.(=) Unknown - benign g.155756603G>A g.156329593G>A SGCD(NM_000337.5):c.3+14G>A - SGCD_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.3+19C>G r.(?) p.(=) Unknown - VUS g.155756608C>G g.156329598C>G - - SGCD_000034 - from website {DBsub-Emory} - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.3+19C>G r.(?) p.(?) Parent #1 - VUS g.155756608C>G g.156329598C>G - - SGCD_000034 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
-?/. - c.3+19C>T r.(=) p.(=) Unknown - likely benign g.155756608C>T - SGCD(NM_000337.5):c.3+19C>T - SGCD_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3+20G>A r.(=) p.(=) Unknown - benign g.155756609G>A g.156329599G>A SGCD(NM_001128209.2):c.-1+2367G>A - SGCD_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2i c.4-69dup r.(=) p.(=) Paternal (inferred) - likely benign g.155771430dup g.156344420dup 4-70insT - SGCD_000039 mother/gfather homozygous - - - Germline - - - - - DNA SEQ - - LGMD private email contact me for details - F no India - >25y - - - 1 Johan den Dunnen
-?/. 2i c.4-69dup r.(=) p.(=) Maternal (inferred) - likely benign g.155771430dup g.156344420dup 4-70insT - SGCD_000039 mother/gfather homozygous - - - Germline - - - - - DNA SEQ - - LGMD private email contact me for details - F no India - >25y - - - 1 Johan den Dunnen
+/. 2i_3i c.(3_4-52)_(187_193-1)del r.spl? p.(Met2_Ile64del) Both (homozygous) - pathogenic (recessive) g.(155756589_155771447)_(155771682_155935610)del - g.155771447_155771682del - SGCD_000065 - PubMed: Giugliano 2018 - - Germline - - - - - DNA arrayCGH - - LGMD Patient IX PubMed: Giugliano 2018 - M - Italy - - - - - 1 Teresa Giugliano
+/. 2i_3i c.(3_4-52)_(187_193-1)del r.spl? p.(Met2_Ile64del) Maternal (inferred) - pathogenic (recessive) g.(155756589_155771447)_(155771682_155935610)del g.(156329579_156344437)_(156344672_156508600)del - - SGCD_000065 - PubMed: Alonso-Perez 2021 - - Germline - - - - - DNA SEQ - - LGMD Pat10 PubMed: Alonso-Perez 2021 - - - - - - - - - 1 Johan den Dunnen
+/. 2i_3i c.(3_4-52)_(187_193-1)del r.spl? p.(Met2_Ile64del) Maternal (inferred) - pathogenic (recessive) g.(155756589_155771447)_(155771682_155935610)del g.(156329579_156344437)_(156344672_156508600)del - - SGCD_000065 - PubMed: Alonso-Perez 2021 - - Germline - - - - - DNA SEQ - - LGMD Pat11 PubMed: Alonso-Perez 2021 - - - - - - - - - 1 Johan den Dunnen
?/. 2i c.4-41G>T r.(?) p.(=) Unknown - VUS g.155771458G>T g.156344448G>T - - SGCD_000035 - from website {DBsub-Emory} - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4-1G>A r.spl? p.? Unknown - VUS g.155771498G>A g.156344488G>A SGCD(NM_000337.6):c.4-1G>A - SGCD_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.8C>T r.(?) p.(Pro3Leu) Parent #1 - VUS g.155771503C>T g.156344493C>T - - SGCD_000067 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
?/. 3 c.15G>C r.(?) p.(Glu5Asp) Parent #1 - VUS g.155771510G>C g.156344500G>C - - SGCD_000068 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-?/. - c.15G>C r.(?) p.(Glu5Asp) Unknown - likely benign g.155771510G>C g.156344500G>C SGCD(NM_000337.5):c.15G>C (p.E5D) - SGCD_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15G>C r.(?) p.(Glu5Asp) Unknown - likely benign g.155771510G>C g.156344500G>C SGCD(NM_000337.5):c.15G>C (p.E5D) - SGCD_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.22A>G r.(?) p.(Thr8Ala) Parent #1 - VUS g.155771517A>G g.156344507A>G - - SGCD_000069 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
?/. 3 c.31C>T r.(?) p.(Arg11Trp) Unknown - VUS g.155771526C>T g.156344516C>T - - SGCD_000110 Novel variant (2021) PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - screened DMD, SGCD, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1 DMD MDCRC/1212/DBI-1019 PubMed: Karthikeyan 2024 - M no India - - - yes - 1 Lakshmi Bremadesam
-?/. - c.39C>T r.(?) p.(Thr13=) Unknown - likely benign g.155771534C>T - SGCD(NM_000337.5):c.39C>T (p.T13=) - SGCD_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.65dup r.(?) p.(Tyr23Ilefs*43) Parent #1 - pathogenic g.155771560dup g.156344550dup 65dupT - SGCD_000070 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
?/. - c.68A>G r.(?) p.(Tyr23Cys) Unknown - VUS g.155771563A>G - - - SGCD_000109 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG-I blood WES LGMDR4;LGMD2E Pat112 PubMed: Chakravorty 2020 - M ? India - - - - - 1 Micaela Carcione
?/. 3 c.69C>T r.(?) p.(=) Parent #1 - VUS g.155771564C>T g.156344554C>T - - SGCD_000071 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
?/. - c.73G>A r.(?) p.(Val25Met) Unknown - VUS g.155771568G>A - SGCD(NM_000337.6):c.73G>A (p.V25M) - SGCD_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.84T>C r.(?) p.(=) Unknown - benign g.155771579T>C g.156344569T>C - - SGCD_000022 - from website {DBsub-Emory} - rs1801193 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.84T>C r.(?) p.(=) Parent #1 - benign g.155771579T>C g.156344569T>C - - SGCD_000022 - PubMed: Nigro - rs1801193 Germline - 0.2 - - - DNA SSCA - - ? - PubMed: Nigro - - - Italy - - - - - 1 Johan den Dunnen
-/. 3 c.84T>C r.84u>c p.= Parent #1 - benign g.155771579T>C g.156344569T>C Y28Y - SGCD_000022 - PubMed: Duggan 1997 - rs1801193 Germline - 0.5 - - - DNA, RNA RT-PCR, SEQ, SSCA - - MD - PubMed: Duggan 1997 - - - United States - - - - - 1 Johan den Dunnen
-/. 3 c.84T>C r.(?) p.(=) Parent #1 - benign g.155771579T>C g.156344569T>C - - SGCD_000022 - PubMed: Sylvius - rs1801193 Germline - 0.49 - - - DNA SEQ, SSCA - - ? - PubMed: Sylvius - - - France - - - - - 1 Johan den Dunnen
-/. 3 c.84T>C r.(?) p.(=) Parent #1 - benign g.155771579T>C g.156344569T>C - - SGCD_000022 control chromosomes PubMed: Karkkainen 2003 - rs1801193 Germline - - - - - DNA SEQ, SSCA - - ? - PubMed: Karkkainen 2003 - - - Finland - - - - - 1 Johan den Dunnen
-/. 3 c.84T>C r.(?) p.(=) Parent #1 - benign g.155771579T>C g.156344569T>C - - SGCD_000022 - PubMed: Love - rs1801193 Germline - 3/10 - - - DNA DHPLC - - LGMD - PubMed: Love - - - New Zealand - - - - - 3 Johan den Dunnen
-/. 3 c.84T>C r.(?) p.(=) Parent #1 - benign g.155771579T>C g.156344569T>C - - SGCD_000022 - - - rs1801193 Germline - - - - - DNA SEQ - - LGMD - - - - - Netherlands - - - - - 8 Ieke Ginjaar
-?/. 3 c.84T>C r.(?) p.(=) Paternal (inferred) - likely benign g.155771579T>C g.156344569T>C - - SGCD_000022 mother/father homozygous - - rs1801193 Germline - - - - - DNA SEQ - - LGMD private email contact me for details - F no India - >25y - - - 1 Johan den Dunnen
-?/. 3 c.84T>C r.(?) p.(=) Maternal (inferred) - likely benign g.155771579T>C g.156344569T>C - - SGCD_000022 mother/father homozygous - - rs1801193 Germline - - - - - DNA SEQ - - LGMD private email contact me for details - F no India - >25y - - - 1 Johan den Dunnen
-/. - c.84T>C r.(?) p.(Tyr28=) Unknown - benign g.155771579T>C g.156344569T>C SGCD(NM_000337.5):c.84T>C (p.Y28=), SGCD(NM_000337.6):c.84T>C (p.Y28=) - SGCD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.84T>C r.(?) p.(Tyr28=) Unknown - benign g.155771579T>C g.156344569T>C SGCD(NM_000337.5):c.84T>C (p.Y28=), SGCD(NM_000337.6):c.84T>C (p.Y28=) - SGCD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.84T>C r.(?) p.(Tyr28=) Unknown - benign g.155771579T>C g.156344569T>C SGCD(NM_000337.5):c.84T>C (p.Y28=), SGCD(NM_000337.6):c.84T>C (p.Y28=) - SGCD_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.84T>C r.(=) p.(=) Parent #1 ACMG benign g.155771579T>C g.156344569T>C - - SGCD_000022 - - VCV000048125.20 - Germline/De novo (untested) - - - - - DNA SEQ-NG-I blood WES BMD #1029 - BMD patient M no Argentina - - - - - 1 Micaela Carcione
-/. 3 c.84T>C r.(=) p.(=) Unknown - benign g.155771579T>C g.156344569T>C - - SGCD_000022 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I blood WES DMD #1190 - - M - Argentina - - - - - 1 Micaela Carcione
+/. 3 c.89G>A r.89g>a p.Trp30* Paternal (confirmed) - pathogenic g.155771584G>A g.156344574G>A - - SGCD_000003 not in 100 control chromosomes; unknown variant 2nd chromosome PubMed: Duggan 1997, OMIM:var0003 - - Germline - - NheI+ - - DNA, RNA RT-PCR, SSCA - - MD - PubMed: Duggan 1997, OMIM:var0003 - F - United States - - - - - 1 Johan den Dunnen
+/. 3 c.89G>A r.(?) p.Trp30* Parent #1 - pathogenic g.155771584G>A g.156344574G>A W30X - SGCD_000003 - PubMed: Khadlikar 2009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Khadlikar 2009 - - - India - - - - - 1 Johan den Dunnen
+/. 3 c.89G>A r.(?) p.Trp30* Parent #2 - pathogenic g.155771584G>A g.156344574G>A W30X - SGCD_000003 - PubMed: Khadlikar 2009 - - Germline - - - - - DNA DHPLC - - LGMD - PubMed: Khadlikar 2009 - - - India - - - - - 1 Johan den Dunnen
+/. 4 c.89G>A r.(?) p.(Trp30Ter) Unknown - pathogenic (recessive) g.155771584G>A g.156344574G>A - - SGCD_000003 - PubMed: Alonso-Perez 2021 - - Germline - - - - - DNA SEQ - - LGMD Pat19 PubMed: Alonso-Perez 2021 - - - - - - - - - 1 Johan den Dunnen
?/. - c.92G>A r.(?) p.(Arg31Gln) Unknown - VUS g.155771587G>A g.156344577G>A SGCD(NM_000337.5):c.92G>A (p.R31Q), SGCD(NM_000337.6):c.92G>A (p.R31Q) - SGCD_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.92G>A r.(?) p.(Arg31Gln) Parent #1 - VUS g.155771587G>A g.156344577G>A - - SGCD_000045 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
?/. 3 c.92G>A r.(?) p.(Arg31Gln) Parent #1 - VUS g.155771587G>A g.156344577G>A - - SGCD_000045 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
?/. - c.92G>A r.(?) p.(Arg31Gln) Unknown - VUS g.155771587G>A g.156344577G>A SGCD(NM_000337.5):c.92G>A (p.R31Q), SGCD(NM_000337.6):c.92G>A (p.R31Q) - SGCD_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.92G>A r.(?) p.(Arg31Gln) Unknown - VUS g.155771587G>A g.156344577G>A SGCD(NM_000337.5):c.92G>A (p.R31Q), SGCD(NM_000337.6):c.92G>A (p.R31Q) - SGCD_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.105G>C r.(?) p.(Leu35=) Unknown - benign g.155771600G>C g.156344590G>C SGCD(NM_000337.6):c.105G>C (p.L35=) - SGCD_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.123C>G r.(?) p.(Leu41=) Unknown - likely benign g.155771618C>G g.156344608C>G SGCD(NM_000337.5):c.123C>G (p.L41=, p.(Leu41=)), SGCD(NM_000337.6):c.123C>G (p.L41=) - SGCD_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.123C>G r.(?) p.(Leu41=) Unknown - likely benign g.155771618C>G g.156344608C>G SGCD(NM_000337.5):c.123C>G (p.L41=, p.(Leu41=)), SGCD(NM_000337.6):c.123C>G (p.L41=) - SGCD_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.123C>G r.(?) p.(Leu41=) Unknown - likely benign g.155771618C>G - SGCD(NM_000337.5):c.123C>G (p.L41=, p.(Leu41=)), SGCD(NM_000337.6):c.123C>G (p.L41=) - SGCD_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160A>G r.(?) p.(Ile54Val) Unknown - VUS g.155771655A>G g.156344645A>G SGCD(NM_000337.5):c.160A>G (p.(Ile54Val)), SGCD(NM_000337.6):c.160A>G (p.I54V) - SGCD_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160A>G r.(?) p.(Ile54Val) Unknown - VUS g.155771655A>G g.156344645A>G SGCD(NM_000337.5):c.160A>G (p.(Ile54Val)), SGCD(NM_000337.6):c.160A>G (p.I54V) - SGCD_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.191T>C r.(?) p.(Ile64Thr) Parent #1 - VUS g.155771686T>C g.156344676T>C - - SGCD_000072 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
-/. 3i c.192+86A>G r.(=) p.(=) Both (homozygous) ACMG benign g.155771773A>G g.156344763A>G - - SGCD_000121 - - VCV000672040.1 - Germline/De novo (untested) - - - - - DNA SEQ-NG-I blood WES BMD #1029 - BMD patient M no Argentina - - - - - 1 Micaela Carcione
-/. 3i c.192+86A>G r.(=) p.(=) Both (homozygous) - benign g.155771773A>G g.156344763A>G - - SGCD_000121 patient with pathogenic variant in DMD - VCV000672040.1 - Germline/De novo (untested) - - - - - DNA SEQ-NG-I blood WES DMD #1227 - - M no Argentina - - - - - 1 Micaela Carcione
-/. 3i c.192+86A>G r.(=) p.(=) Both (homozygous) - benign g.155771773A>G g.156344763A>G - - SGCD_000121 - - 672040 - Germline/De novo (untested) - - - - - DNA SEQ-NG-I blood WES DMD #1190 - - M - Argentina - - - - - 1 Micaela Carcione
-/. 3i c.192+86A>G r.(=) p.(=) Both (homozygous) - benign g.155771773A>G g.156344763A>G - - SGCD_000121 - - 672040 - Germline/De novo (untested) - - - - - DNA SEQ-NG-I blood WES DMD #1172 - - M - Argentina - - - - - 1 Micaela Carcione
-/. 3i c.192+39267T>C r.(=) p.(=) Parent #1 - benign g.155810954T>C g.156383944T>C - - SGCD_000012 - - - rs140616 Germline - 0.62 - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.192+76044A>G r.(=) p.(=) Parent #1 - benign g.155847731A>G g.156420721A>G - - SGCD_000013 - - - rs1546362 Germline - 0.03 - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.193-14304A>T r.(=) p.(=) Parent #1 - benign g.155921307A>T g.156494297A>T - - SGCD_000014 - - - rs256843 Germline - 0.79 - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.193-13512C>T r.(=) p.(=) Parent #1 - benign g.155922099C>T g.156495089C>T - - SGCD_000015 - - - rs1368300 Germline - 0.22 - - - - - - - - - - - - - - - - - - - - -
-/. 3i c.193-13439G>T r.(=) p.(=) Parent #1 - benign g.155922172G>T g.156495162G>T - - SGCD_000016 - - - rs256842 Germline - 0.08 - - - - - - - - - - - - - - - - - - - - -
+/. - c.202G>T r.(?) p.(Gly68*) Both (homozygous) ACMG pathogenic g.155935620G>T g.156508610G>T - - SGCD_000091 ACMG PVS1, PM2, PP3 PubMed: Özyilmaz 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - LGMD gene panel LGMD Pat26 PubMed: Özyilmaz 2019 2-generation family, affected, unaffected heterozygous carrier parents M - Turkey - - - - - 1 Johan den Dunnen
+/. 4 c.204_207del r.(?) p.(Asn69Ter) Both (homozygous) - pathogenic (recessive) g.155935622_155935625del g.156508612_156508615del - - SGCD_000127 - PubMed: Sarker 2023 - - Germline - - - - - DNA PCRm, SEQ-NG - WES DMD PID_19 PubMed: Sarker 2023 no family history M - Bangladesh - - - - - 1 Johan den Dunnen
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