Full data view for gene PYGM

Information The variants shown are described using the NM_005609.2 transcript reference sequence.

350 entries on 4 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     
-?/. - c.-5505G>A r.(?) p.(=) Unknown - likely benign g.64532875C>T - SF1(NM_201995.2):c.1903G>A (p.G635S) - SF1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_5i c.? r.0 p.0 Parent #1 - pathogenic (recessive) g.? g.? del ex1-5 - DRD4_000002 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 464-gene panel ? RC1266 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+?/. 1 c.1A>C r.(?) p0? Parent #1 - likely pathogenic g.64527370T>G g.64759898T>G M0L; p.M1L - PYGM_000005 - PubMed: abstract 7603523 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 7603523 - - - - - - - - - 1 Gisela Nogales
+/. 1 c.1A>C r.(?) p.(Met1?) Parent #1 - pathogenic (recessive) g.64527370T>G g.64759898T>G - - PYGM_000005 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD370 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+?/. 1 c.1A>G r.(?) p0? Parent #1 - likely pathogenic g.64527370T>C g.64759898T>C M0V; p.M1V - PYGM_000013 - PubMed: abstract 9506549 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 9506549 - - - - - - - - - 1 Gisela Nogales
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.64527370T>C g.64759898T>C PYGM(NM_001164716.1):c.1A>G (p.M1?), PYGM(NM_005609.4):c.1A>G (p.M1?) - PYGM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.64527370T>C - PYGM(NM_001164716.1):c.1A>G (p.M1?), PYGM(NM_005609.4):c.1A>G (p.M1?) - PYGM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.64527370T>C - PYGM(NM_001164716.1):c.1A>G (p.M1?), PYGM(NM_005609.4):c.1A>G (p.M1?) - PYGM_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.13_14del r.(?) p.(Leu5Valfs*22) Parent #1 - likely pathogenic g.64527357_64527358del g.64759885_64759886del 13_14delCT - PYGM_000070 - PubMed: abstract 17172620 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 17172620 - - - - - - - - - 1 Gisela Nogales
+/. - c.13_14del r.(?) p.(Leu5ValfsTer22) Both (homozygous) - pathogenic (recessive) g.64527357_64527358del g.64759885_64759886del c.13_14delCT - PYGM_000070 - PubMed: Marti 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat57 PubMed: Marti 2025 patient, no family history - - Spain - - - - - 1 Johan den Dunnen
+?/. 1 c.14del r.(?) p.(Leu5Argfs*21) Parent #1 - likely pathogenic g.64527357del g.64759885del L5RfsX20 - PYGM_000119 - PubMed: abstract 21802952 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 21802952 - - - - - - - - - 1 Gisela Nogales
+?/. 1 c.21_28dup r.(?) p.(Lys10Thrfs*19) Parent #1 - likely pathogenic g.64527346_64527353dup g.64759874_64759881dup 21_28dup8 - PYGM_000143 - PubMed: Wang 2013 - - Germline/De novo (untested) - - - - - DNA SEQ - - GSD5 P5 PubMed: Wang 2013 - F - United States - - - - - 1 Gisela Nogales
+/. 1 c.46delinsTT r.(?) p.(Val16Phefs*12) Parent #1 - pathogenic g.64527325delinsAA g.64759853delinsAA 46delGinsTT - PYGM_000007 - PubMed: Bartram 1994 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: Bartram 1994 - - - United Kingdom (Great Britain) - - - - - 1 Gisela Nogales
+?/. 1 c.78_79del r.(?) p.(Glu27Alafs*50) Parent #1 - likely pathogenic g.64527292_64527293del g.64759820_64759821del T25fs - PYGM_000046 - PubMed: abstract 15979037 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 15979037 - - - - - - - - - 1 Gisela Nogales
+?/. - c.78_79del r.(?) p.(Glu27Alafs*50) Unknown - likely pathogenic g.64527292_64527293del g.64759820_64759821del - - PYGM_000046 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+?/. 1 c.104A>G r.(?) p.(His35Arg) Parent #1 - likely pathogenic g.64527267T>C g.64759795T>C - - PYGM_000151 - - - - Unknown - - - - - DNA SEQ - - GSD5 - - - M ? Spain - - - - - 1 Irene Vieitez
+?/. 1 c.107T>C r.(?) p.(Leu36Pro) Parent #1 - likely pathogenic g.64527264A>G g.64759792A>G - - PYGM_000107 - PubMed: abstract 19472443 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 19472443 - - - - - - - - - 1 Gisela Nogales
+?/. 1 c.107T>G r.(?) p.(Leu36Arg) Parent #1 - likely pathogenic g.64527264A>C g.64759792A>C - - PYGM_000116 - PubMed: abstract 21802952 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 21802952 - - - - - - - - - 1 Gisela Nogales
+?/. - c.107T>G r.(?) p.(Leu36Arg) Unknown - likely pathogenic g.64527264A>C g.64759792A>C - - PYGM_000116 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+?/. 1 c.107T>G r.(?) p.(Leu36Arg) Parent #2 - likely pathogenic (recessive) g.64527264A>C g.64759792A>C - - PYGM_000116 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD371 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+?/. 1 c.111_133del r.(?) p.(His37Glnfs*33) Parent #1 - likely pathogenic g.64527241_64527263del g.64759769_64759791del - - PYGM_000118 - PubMed: abstract 21802952 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 21802952 - - - - - - - - - 1 Gisela Nogales
+/. - c.123_124insCC r.(?) p.(Lys42Profs*48) Both (homozygous) - pathogenic (recessive) g.64527247_64527248insGG g.64759775_64759776insGG - - PYGM_000168 - PubMed: Cheraud 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat1 PubMed: Cheraud 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - 1 Johan den Dunnen
+/. - c.123_124insCC r.(?) p.(Lys42Profs*48) Both (homozygous) - pathogenic (recessive) g.64527247_64527248insGG g.64759775_64759776insGG - - PYGM_000168 - PubMed: Cheraud 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES MYOP Pat2 PubMed: Cheraud 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.148c>u p.Arg50* Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A R49X - PYGM_000002 - PubMed: Tsujino 1993, OMIM:var0001 - rs116987552 Unknown - - - - - DNA, RNA RT-PCR, SEQ - - GSD5 - PubMed: Tsujino 1993 2/40 homozygous patients - - United States - - - - - 2 Gisela Nogales
+/. 1 c.148C>T r.(?) p.(Arg50*) Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A R49X - PYGM_000002 - PubMed: Tsujino 1993, OMIM:var0001 - rs116987552 Unknown - - - - - DNA SEQ - - GSD5 - PubMed: Tsujino 1993 16/40 homozygous patients - - United States - - - - - 16 Gisela Nogales
+/. 1 c.148C>T r.148c>u p.Arg50* Parent #1 - pathogenic g.64527223G>A g.64759751G>A R49X - PYGM_000002 - PubMed: Tsujino 1993, OMIM:var0001 - rs116987552 Unknown - - - - - DNA SEQ - - GSD5 - PubMed: Tsujino 1993 2-generation family, compound heterozygous mother of 3 affected children - - United States - - - - - 1 Gisela Nogales
+/. 1 c.148C>T r.0 p.0 Parent #2 - pathogenic g.64527223G>A g.64759751G>A R50X - PYGM_000002 - PubMed: Garcia-Consuegra 2009 - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - GSD5 - PubMed: Garcia-Consuegra 2009 - - - Spain - - - - - 1 Gisela Nogales
+/. 1 c.148C>T r.(?) p.(Arg50*) Maternal (confirmed) - pathogenic g.64527223G>A g.64759751G>A R49X - PYGM_000002 - PubMed: Tsujino 1993, OMIM:var0001 - rs116987552 Germline - - - - - DNA SEQ - - GSD5 - PubMed: Tsujino 1993 2-generation family, compound heterozygous 2nd son/daugther - - United States - - - - - 1 Gisela Nogales
+/. 1 c.148C>T r.0 p.0 Parent #2 - pathogenic g.64527223G>A g.64759751G>A R50X - PYGM_000002 no RNA detected PubMed: Garcia-Consuegra 2009 - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - GSD5 - PubMed: Garcia-Consuegra 2009 - - - Spain - - - - - 1 Gisela Nogales
+/. 1 c.148C>T r.(?) p.(Arg50*) Parent #2 - pathogenic g.64527223G>A g.64759751G>A R49X - PYGM_000002 - PubMed: Bartram 1994 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: Bartram 1994 - - - United Kingdom (Great Britain) - - - - - 1 Gisela Nogales
+/. 1 c.148C>T r.(?) p.(Arg50*) Parent #2 - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - - - - Germline - - - - - DNA SEQ - - GSD5 - - - F no Spain - - - - - 1 Irene Vieitez
+/. 1 c.148C>T r.(?) p.(Arg50*) Parent #2 - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - - - - Unknown - - - - - DNA SEQ - - GSD5 - - - M ? Spain - - - - - 1 Irene Vieitez
+/+ 1 c.148C>T r.(?) p.(Arg50*) Parent #2 - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - - - - Germline yes - - - - DNA SEQ - - GSD5 - - - M ? - - - - - - 1 Irene Vieitez
+/. 1 c.148C>T r.(?) p.(Arg50*) Parent #2 - pathogenic (recessive) g.64527223G>A g.64759751G>A R49X - PYGM_000002 - PubMed: Martin 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - GSD5 ?/Pat197 PubMed: Martin 2001, PubMed: Park 2017 - - - Spain - - - - - 1 Gisela Nogales
+/. - c.148C>T r.(?) p.(Arg50Ter) Unknown - pathogenic g.64527223G>A g.64759751G>A PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*) - PYGM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.148C>T r.(?) p.(Arg50*) Unknown - likely pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Unknown - pathogenic g.64527223G>A - PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*) - PYGM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.148C>T r.(?) p.(Arg50Ter) Unknown - pathogenic g.64527223G>A - PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*) - PYGM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 ACMG pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 ACMG PVS1, PS3, PM3, PP1 PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P36/Myo099 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) ACMG pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 ACMG PVS1, PS3, PM3_Strong, PP4, BS1 PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P77/Myo153 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
?/. - c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) ACMG pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - Pending - - Germline - - - - - DNA SEQ-NG-I - WGS GSD5 - Pending - M - France - - - - - 2 Camille Verebi
+/. - c.148C>T r.(?) p.(Arg50Ter) Unknown - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+?/. - c.148C>T r.(?) p.(Arg50*) Unknown - likely pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Mohamed 2026 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - rhabdomyolysis panel ? Pat1 PubMed: Mohamed 2026 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Unknown - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Rubegni 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 78-gene panel hCK Pat32 PubMed: Rubegni 2019 patient M - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 336-gene panel ? ED213 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 336-gene panel ? IH214 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 336-gene panel ? SS215 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 464-gene panel ? CE1264 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Unknown - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Kruijt 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat52 PubMed: Kruijt 2021 patient - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Kruijt 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat53 PubMed: Kruijt 2021 patient - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Kruijt 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat54 PubMed: Kruijt 2021 patient - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Kruijt 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat55 PubMed: Kruijt 2021 patient - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Kruijt 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat56 PubMed: Kruijt 2021 patient - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Kruijt 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat57 PubMed: Kruijt 2021 patient - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Kruijt 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat58 PubMed: Kruijt 2021 patient - - Netherlands - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD356 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD357 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD358 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD359 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD360 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD361 PubMed: Nallamilli 2023 - - - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD362 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD363 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD364 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD365 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD366 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD367 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD368 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD369 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD371 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD372 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD373 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD374 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD375 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD376 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD377 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD378 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD379 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD382 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD383 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+?/. 1 c.152A>G r.(?) p.(Asp51Gly) Parent #1 - likely pathogenic g.64527219T>C g.64759747T>C - - PYGM_000133 - PubMed: abstract 21880526 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 21880526 - - - - - - - - - 1 Gisela Nogales
+?/. 1 c.158_160del r.(?) p.(Tyr53del) Parent #1 - likely pathogenic g.64527217_64527219del g.64759745_64759747del 158_160delACT - PYGM_000134 - PubMed: abstract 21880526 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 21880526 - - - - - - - - - 1 Gisela Nogales
+?/. 1 c.159C>G r.(?) p.(Tyr53*) Parent #1 - likely pathogenic g.64527212G>C g.64759740G>C Y52X - PYGM_000034 - PubMed: abstract 11809171 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 11809171 - - - - - - - - - 1 Gisela Nogales
?/. - c.160T>G r.(?) p.(Phe54Val) Unknown - VUS g.64527211A>C - PYGM(NM_005609.4):c.160T>G (p.(Phe54Val)) - SF1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.164_168del r.(?) p.(Ala55Glyfs*21) Parent #1 - likely pathogenic g.64527205_64527209del g.64759733_64759737del 164_168delCTCTG - PYGM_000120 - PubMed: Vieitez I et al. 2011 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 21802952 - - - - - - - - - 1 Gisela Nogales
?/. 1 c.208C>T r.(?) p.(Arg70Cys) Unknown ACMG VUS g.64527163G>A g.64759691G>A - - PYGM_000193 - Verebi et al. (submitted) - - Germline yes - - - - DNA SEQ-NG-I - WGS GSD5 - Verebi et al. (submitted) - M - France - - - - - 2 Camille Verebi
+?/. 1 c.212_218dup r.(?) p.(Gln73Hisfs*7) Parent #1 - likely pathogenic g.64527156_64527162dup g.64759684_64759690dup 212_218dupCGCAGCA - PYGM_000074 - PubMed: abstract 17221871 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 17221871 - - - - - - - - - 1 Gisela Nogales
+?/. 1 c.225C>A r.(?) p.(Tyr75*) Parent #1 - likely pathogenic g.64527146G>T g.64759674G>T - - PYGM_000136 - PubMed: abstract 21880526 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 21880526 - - - - - - - - - 1 Gisela Nogales
?/. 1 c.242A>G r.(?) p.(Lys81Arg) Parent #2 - VUS g.64527129T>C g.64759657T>C - - PYGM_000206 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD384 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+?/. 2 c.247A>T r.(?) p.(Ile83Phe) Parent #1 - likely pathogenic g.64526173T>A g.64758701T>A - - PYGM_000076 - PubMed: abstract 17221871 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 17221871 - - - - - - - - - 1 Gisela Nogales
+?/. 2 c.254_257del r.(?) p.(Tyr85CysfsTer3) Parent #1 - likely pathogenic (recessive) g.64526165_64526168del g.64758693_64758696del - - PYGM_000205 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD384 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+?/. 2 c.255C>A r.(?) p.(Tyr85*) Parent #1 - likely pathogenic g.64526165G>T g.64758693G>T Y84X - PYGM_000038 - PubMed: abstract 12508303 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 12508303 - - - - - - - - - 1 Gisela Nogales
+?/. - c.255C>A r.(?) p.(Tyr85*) Unknown - likely pathogenic g.64526165G>T - - - PYGM_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.280C>T r.(?) p.(Arg94Trp) Parent #1 - likely pathogenic g.64526140G>A g.64758668G>A R93W - PYGM_000039 - PubMed: abstract 12508303 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 12508303 - - - - - - - - - 1 Gisela Nogales
+?/. - c.280C>T r.(?) p.(Arg94Trp) Unknown - likely pathogenic g.64526140G>A g.64758668G>A - - PYGM_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.280C>T r.(?) p.(Arg94Trp) Parent #1 - pathogenic (recessive) g.64526140G>A g.64758668G>A - - PYGM_000039 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD380 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 2 c.280C>T r.(?) p.(Arg94Trp) Parent #1 - pathogenic (recessive) g.64526140G>A g.64758668G>A - - PYGM_000039 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD381 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 2 c.280C>T r.(?) p.(Arg94Trp) Parent #2 - pathogenic (recessive) g.64526140G>A g.64758668G>A - - PYGM_000039 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD372 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+?/. 2 c.281G>A r.(?) p.(Arg94Gln) Unknown - likely pathogenic g.64526139C>T g.64758667C>T - - PYGM_000150 - - - - Unknown - - - - - DNA SEQ - - GSD5 - - - F ? Spain - - - - - 1 Irene Vieitez
+?/. 2 c.281G>C NM_005609.2:c.281G>C p.Arg94Pro Both (homozygous) - likely pathogenic g.64758667C>G g.64991195C>G - - PYGM_000153 - Nabavi Nouri M, Lamhonwah AM, Tein I; to be submitted for publication - - Germline - - - - - RNA SEQ blood DNA - myoglobinuria - - - F yes India East Indian - - - - 1 Ingrid Tein
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