Full data view for gene PYGL

Information The variants shown are described using the NM_002863.4 transcript reference sequence.

194 entries on 2 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 c.2T>A r.(?) p.0? Paternal (inferred) - likely pathogenic g.51411120A>T g.50944402A>T - - PYGL_000002 - - - - Unknown - - - - - DNA SEQ-NG-I, SEQ - - GSD6 - - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+?/? 1 c.2T>A r.(?) p.0? Maternal (inferred) - likely pathogenic g.51411120A>T g.50944402A>T - - PYGL_000002 - - - - Unknown - - - - - DNA SEQ-NG-I, SEQ - - GSD6 - - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. - c.38A>C r.(?) p.(Gln13Pro) Parent #1 - pathogenic (recessive) g.51411084T>G g.50944366T>G - - PYGL_000101 - PubMed: Beauchamp 2007 - - Germline - - - - - DNA SEQ - - GSD Pat6 PubMed: Beauchamp 2007 - M no Poland - - - - - 1 LOVD
+?/. 1 c.43A>T r.(?) p.(Ser15Cys) Paternal (confirmed) ACMG likely pathogenic (recessive) g.51411079T>A - - - PYGL_000100 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P38 PubMed: Luo 2022 - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
?/. - c.52G>A r.(?) p.(Gly18Ser) Unknown - VUS g.51411070C>T - PYGL(NM_002863.5):c.52G>A (p.(Gly18Ser)) - PYGL_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.93T>C r.(?) p.(Ser31=) Unknown - VUS g.51411029A>G g.50944311A>G 93C>T - PYGL_000099 - PubMed: Davit-Spraul 2011 - rs17123244 Germline - - - - - DNA SEQ - - GSD Pat4 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
?/. 1 c.131G>T r.(?) p.(Arg44Leu) Maternal (confirmed) ACMG VUS g.51410991C>A - - - PYGL_000098 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P50 PubMed: Luo 2022 - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+/. 1 c.148dup r.(?) p.(Arg50Profs*61) Paternal (confirmed) ACMG pathogenic (recessive) g.51410976dup g.50944258dup 148dupC - PYGL_000097 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P24 PubMed: Luo 2022 - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+?/. 1 c.152A>T r.(?) p.(Asp51Val) Maternal (confirmed) ACMG likely pathogenic (recessive) g.51410970T>A - - - PYGL_000096 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P35 PubMed: Luo 2022 - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
-?/. - c.153C>T r.(=) p.(=) Parent #1 - likely benign g.51410969G>A g.50944251G>A - - PYGL_000052 183 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77316189 Germline - 183/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 183 Mohammed Faruq
-?/. - c.153C>T r.(=) p.(=) Both (homozygous) - likely benign g.51410969G>A g.50944251G>A - - PYGL_000052 8 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77316189 Germline - 8/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-?/. 1 c.153C>T r.(?) p.(Asp51=) Parent #1 - likely benign g.51410969G>A g.50944251G>A - - PYGL_000052 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat34 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
-?/. - c.153C>T r.(?) p.(=) Unknown - likely benign g.51410969G>A - PYGL(NM_002863.5):c.153C>T (p.(Asp51=)) - PYGL_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.244-34G>A r.(=) p.(=) Parent #1 - benign g.51404589C>T g.50937871C>T - - PYGL_000051 132 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17123214 Germline - 132/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 132 Mohammed Faruq
-/. - c.244-34G>A r.(=) p.(=) Both (homozygous) - benign g.51404589C>T g.50937871C>T - - PYGL_000051 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17123214 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.271T>C r.(?) p.(Tyr91His) Unknown - VUS g.51404528A>G - PYGL(NM_002863.5):c.271T>C (p.(Tyr91His)) - PYGL_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.280C>T r.(?) p.(Arg94Ter) Unknown - pathogenic g.51404519G>A g.50937801G>A PYGL(NM_002863.5):c.280C>T (p.R94*) - PYGL_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.280C>T r.(?) p.(Arg94*) Maternal (confirmed) ACMG pathogenic (recessive) g.51404519G>A g.50937801G>A - - PYGL_000038 - PubMed: Luo 2020, PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I white blood cell - GSD6 Pat2;GSD6_P26 PubMed: Luo 2020, PubMed: Luo 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents F no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+/. 2 c.280C>T r.(?) p.(Arg94*) Paternal (confirmed) ACMG pathogenic (recessive) g.51404519G>A - - - PYGL_000038 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P40 PubMed: Luo 2022 - M yes China - - - - uncooked corn starch 1 Wenjuan Qiu
+/. 2 c.280C>T r.(?) p.(Arg94*) Paternal (confirmed) ACMG pathogenic (recessive) g.51404519G>A - - - PYGL_000038 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P22 PubMed: Luo 2022 - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
?/. 2 c.298A>G r.(?) p.(Met100Val) Maternal (confirmed) ACMG VUS g.51404501T>C g.50937783T>C - - PYGL_000010 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P23 PubMed: Luo 2022 - M no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. 2 c.320dup r.(?) p.(Asn107Lysfs*4) Paternal (confirmed) ACMG pathogenic (recessive) g.51404482dup g.50937764dup 320dupA - PYGL_000095 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P33 PubMed: Luo 2022 - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
?/. - c.346C>T r.(?) p.(Leu116Phe) Unknown - VUS g.51401903G>A - - - PYGL_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.350G>T r.(?) p.(Gly117Val) Maternal (confirmed) ACMG likely pathogenic g.51401899C>A g.50935181C>A - - PYGL_000011 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P14 PubMed: Luo 2022 - M no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+?/. 3 c.394C>G r.(?) p.(Leu132Val) Maternal (confirmed) ACMG likely pathogenic (recessive) g.51401855G>C g.50935137G>C - - PYGL_000012 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P16 PubMed: Luo 2022 - F no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
?/. 4 c.482G>C r.(?) p.(Arg161Pro) Paternal (confirmed) ACMG VUS g.51398437C>G - - - PYGL_000094 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P2 PubMed: Luo 2022 - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+/. 4 c.501_502ins(361) r.? p.(Asn168Glufs*15) Both (homozygous) - pathogenic (recessive) g.51398417_51398418insN[361] g.50931699_50931700insN[361] 501_502ins361 - PYGL_000057 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat1 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
+/. 41 c.528+2T>C r.spl p.? Parent #1 - pathogenic (recessive) g.51398389A>G g.50931671A>G - - PYGL_000093 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat3 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
+/. - c.529-1G>C r.529_660del p.? Parent #1 - pathogenic (recessive) g.51390819C>G g.50924101C>G - - PYGL_000092 - PubMed: Burwinkel 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GSD Pat2 PubMed: Burwinkel 1998 - M no Suriname - - - - - 1 LOVD
?/. 5 c.547T>G r.(?) p.(Trp183Gly) Maternal (confirmed) ACMG VUS g.51390800A>C - - - PYGL_000091 - PubMed: Luo 2022 - - Germline ? - - - - DNA SEQ-NG blood - GSD6 GSD6_P30 PubMed: Luo 2022 - F no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+?/. 5 c.564C>A r.(?) p.(Asn188Lys) Parent #1 - likely pathogenic (recessive) g.51390783G>T g.50924065G>T - - PYGL_000090 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat4 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
+?/. 5 c.580C>T r.(?) p.(Arg194Cys) Maternal (confirmed) ACMG likely pathogenic (recessive) g.51390767G>A g.50924049G>A - - PYGL_000005 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P5 PubMed: Luo 2022 - M no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+?/. 5 c.580C>T r.(?) p.(Arg194Cys) Maternal (confirmed) ACMG likely pathogenic (recessive) g.51390767G>A g.50924049G>A - - PYGL_000005 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P13 PubMed: Luo 2022 - F no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
?/. - c.611A>G r.(?) p.(Tyr204Cys) Unknown - VUS g.51390736T>C - PYGL(NM_002863.4):c.611A>G (p.Y204C) - PYGL_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.661G>A r.(?) p.(Val221Met) Parent #2 - VUS g.51387785C>T g.50921067C>T 661G>A;1016A>G - PYGL_000089 - PubMed: Burwinkel 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GSD Pat2 PubMed: Burwinkel 1998 - M no Suriname - - - - - 1 LOVD
+?/. 6 c.682G>T r.(?) p.(Asp228Tyr) Both (homozygous) - likely pathogenic (recessive) g.51387764C>A g.50921046C>A - - PYGL_000088 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat9 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
+?/. 6 c.697G>A r.(?) p.(Gly233Ser) Paternal (confirmed) ACMG likely pathogenic g.51387749C>T g.50921031C>T - - PYGL_000006 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P37 PubMed: Luo 2022 - M no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+?/. 6 c.697G>A r.(?) p.(Gly233Ser) Maternal (confirmed) ACMG likely pathogenic (recessive) g.51387749C>T - - - PYGL_000006 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P33 PubMed: Luo 2022 - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+/. 6 c.698G>A r.(?) p.(Gly233Asp) Paternal (confirmed) ACMG pathogenic (recessive) g.51387748C>T g.50921030C>T - - PYGL_000007 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P3 PubMed: Luo 2022 - M no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. 6 c.698G>A r.(?) p.(Gly233Asp) Maternal (confirmed) ACMG pathogenic (recessive) g.51387748C>T g.50921030C>T - - PYGL_000007 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P28 PubMed: Luo 2022 - M no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. - c.698G>A r.(?) p.(Gly233Asp) Both (homozygous) - pathogenic (recessive) g.51387748C>T g.50921030C>T - - PYGL_000007 - PubMed: Tang 2003 - - Germline - - - - - DNA SEQ - - GSD Pat1 PubMed: Tang 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes China - - - - - 1 LOVD
+/. - c.698G>A r.(?) p.(Gly233Asp) Parent #1 - pathogenic (recessive) g.51387748C>T g.50921030C>T Pro233Asp - PYGL_000007 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P16 PubMed: Wang 2013 - M - United States - - - - - 1 LOVD
+/. 6 c.698G>A r.(?) p.(Gly233Asp) Paternal (confirmed) ACMG pathogenic (recessive) g.51387748C>T - - - PYGL_000007 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P35 PubMed: Luo 2022 - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+/. 6 c.698G>A r.(?) p.(Gly233Asp) Maternal (confirmed) ACMG pathogenic (recessive) g.51387748C>T - - - PYGL_000007 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P38 PubMed: Luo 2022 - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+/. 6 c.698G>A r.(?) p.(Gly233Asp) Maternal (confirmed) ACMG pathogenic (recessive) g.51387748C>T - - - PYGL_000007 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P52 PubMed: Luo 2022 - F no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+?/. 6 c.728G>A r.(?) p.(Arg243His) Paternal (confirmed) ACMG likely pathogenic (recessive) g.51387718C>T g.50921000C>T - - PYGL_000021 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P31 PubMed: Luo 2022 - F no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+?/. 6 c.728G>A r.(?) p.(Arg243His) Paternal (confirmed) ACMG likely pathogenic (recessive) g.51387718C>T - - - PYGL_000021 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P8 PubMed: Luo 2022 - F no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+/. 6 c.730C>T r.(?) p.(Leu244Phe) Paternal (confirmed) ACMG pathogenic (recessive) g.51387716G>A g.50920998G>A - - PYGL_000008 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P25 PubMed: Luo 2022 - F no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. 6 c.730C>T r.(?) p.(Leu244Phe) Maternal (confirmed) ACMG pathogenic (recessive) g.51387716G>A g.50920998G>A - - PYGL_000008 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P15 PubMed: Luo 2022 - F no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+?/. 6 c.730C>T r.(?) p.(Leu244Phe) Unknown - likely pathogenic g.51387716G>A g.50920998G>A - - PYGL_000008 - - - - Germline yes 3/288 - - - DNA SEQ-NG-I blood - GSD6 ? - - M no China chinese han - - - uncooked corn starch 1 Wenjuan Qiu
+/. 6 c.730C>T r.(?) p.(Leu244Phe) Paternal (confirmed) ACMG pathogenic (recessive) g.51387716G>A g.50920998G>A - - PYGL_000008 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P19 PubMed: Luo 2022 - M no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. 6 c.730C>T r.(?) p.(Leu244Phe) Maternal (confirmed) ACMG pathogenic (recessive) g.51387716G>A - - - PYGL_000008 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P1 PubMed: Luo 2022 - F no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+?/. 6 c.736T>C r.(?) p.(Ser246Pro) Both (homozygous) - likely pathogenic g.51387710A>G g.50920992A>G - - PYGL_000009 - - - - Germline yes 2/288 - - - DNA SEQ-NG-I blood - GSD6 ? - - M no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+?/. 6 c.736T>C r.(?) p.(Ser246Pro) Maternal (confirmed) ACMG likely pathogenic (recessive) g.51387710A>G g.50920992A>G - - PYGL_000009 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P41 PubMed: Luo 2022 - M no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. 6i c.772+1G>A r.spl p.? Paternal (confirmed) ACMG pathogenic (recessive) g.51387673C>T g.50920955C>T - - PYGL_000014 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P15 PubMed: Luo 2022 - F no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+?/. 6i c.772+5G>A r.spl? p.? Maternal (confirmed) ACMG likely pathogenic (recessive) g.51387669C>T - - - PYGL_000087 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P20 PubMed: Luo 2022 - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+/. 6i_12i c.856-29_1518+614del r.spl p.? Both (homozygous) - pathogenic (recessive) g.51380805_51383852del g.50914087_50917134del - - PYGL_000075 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat11 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
+?/. 8 c.889G>A r.(?) p.(Glu297Lys) Paternal (confirmed) ACMG likely pathogenic (recessive) g.51383790C>T g.50917072C>T - - PYGL_000015 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P49 PubMed: Luo 2022 - M no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+?/. 8 c.896T>C r.(?) p.(Phe299Ser) Maternal (confirmed) ACMG likely pathogenic (recessive) g.51383783A>G - - - PYGL_000103 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P56 PubMed: Luo 2022 - M no China Chinese han - - - uncooked cornstarch 1 Wenjuan Qiu
+/? 8 c.911_914dup r.(?) p.(Leu305Phefs*25) Unknown - pathogenic g.51383765_51383768dup g.50917047_50917050dup 911_914dupCCTT - PYGL_000003 - - - - Unknown - - - - - DNA SEQ-NG-I, SEQ - - GSD6 - - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+?/. - c.928C>T r.(?) p.(Arg310Cys) Unknown - likely pathogenic g.51383751G>A g.50917033G>A PYGL(NM_001163940.1):c.826C>T (p.(Arg276Cys)) - PYGL_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.928C>T r.(?) p.(Arg310Cys) Parent #1 - benign g.51383751G>A g.50917033G>A - - PYGL_000048 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35501326 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+?/. 8 c.928C>T r.(?) p.(Arg310Cys) Parent #1 - likely pathogenic (recessive) g.51383751G>A g.50917033G>A - - PYGL_000048 - PubMed: Davit-Spraul 2011 - rs35503126 Germline - - - - - DNA SEQ - - GSD Pat1 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
-/. 8 c.962G>A r.(?) p.(Arg321His) Parent #2 - benign g.51383717C>T g.50916999C>T - - PYGL_000086 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat34 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+/. 8i c.1000-1G>A r.spl p.? Maternal (confirmed) ACMG pathogenic (recessive) g.51383453C>T g.50916735C>T - - PYGL_000016 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P25 PubMed: Luo 2022 - F no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. 8i c.1000-1G>A r.spl p.? Paternal (confirmed) ACMG pathogenic (recessive) g.51383453C>T g.50916735C>T - - PYGL_000016 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P36 PubMed: Luo 2022 - M no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. 9 c.1007T>C r.(?) p.(Ile336Thr) Paternal (confirmed) ACMG pathogenic (recessive) g.51383445A>G g.50916727A>G - - PYGL_000028 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P29 PubMed: Luo 2022 - M no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. - c.1016A>G r.(?) p.(Asn339Ser) Parent #2 - pathogenic (recessive) g.51383436T>C g.50916718T>C 661G>A;1016A>G - PYGL_000085 - PubMed: Burwinkel 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GSD Pat2 PubMed: Burwinkel 1998 - M no Suriname - - - - - 1 LOVD
-/. - c.1020C>T r.(?) p.(Asp340=) Unknown - benign g.51383432G>A g.50916714G>A - - PYGL_000084 - PubMed: Beauchamp 2007 - rs2075643 Germline - - - - - DNA SEQ - - Healthy/Control control PubMed: Beauchamp 2007 - - - - - - - - - 1 LOVD
?/. 9 c.1020C>T r.(?) p.(Asp340=) Unknown - VUS g.51383432G>A g.50916714G>A - - PYGL_000084 - PubMed: Davit-Spraul 2011 - rs2075643 Germline - - - - - DNA SEQ - - GSD Pat4 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
?/. 9 c.1079T>C r.(?) p.(Leu360Pro) Maternal (confirmed) ACMG VUS g.51383373A>G g.50916655A>G - - PYGL_000027 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P10 PubMed: Luo 2022 - F no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. - c.1099G>T r.(?) p.(Glu367Ter) Unknown - pathogenic g.51382683C>A g.50915965C>A PYGL(NM_002863.5):c.1099G>T (p.E367*) - PYGL_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1131C>G r.(?) p.(Asn377Lys) Both (homozygous) - pathogenic (recessive) g.51382651G>C g.50915933G>C - - PYGL_000083 - PubMed: Burwinkel 1998 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GSD Pat3 PubMed: Burwinkel 1998 - F yes Turkey Hindustani - - - - 1 LOVD
+?/. 10 c.1131C>G r.(?) p.(Asn377Lys) Both (homozygous) - likely pathogenic (recessive) g.51382651G>C g.50915933G>C - - PYGL_000083 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat5 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
-?/. - c.1137A>G r.(?) p.(Thr379=) Unknown - likely benign g.51382645T>C g.50915927T>C PYGL(NM_002863.4):c.1137A>G (p.T379=) - PYGL_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1145C>T r.(?) p.(Pro382Leu) Parent #1 - VUS g.51382637G>A g.50915919G>A - - PYGL_000045 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143759519 Germline - 12/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
+?/. 10 c.1145C>T r.(?) p.(Pro382Leu) Maternal (confirmed) - likely pathogenic (recessive) g.51382637G>A g.50915919G>A - - PYGL_000045 unknown variant 2nd chromosome PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat6 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
?/. 10 c.1149A>C r.(?) p.(Glu383Asp) Paternal (confirmed) ACMG VUS g.51382633T>G g.50915915T>G - - PYGL_000026 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P10 PubMed: Luo 2022 - F no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. - c.1195C>T r.(?) p.(Arg399*) Parent #1 - pathogenic (recessive) g.51382587G>A g.50915869G>A - - PYGL_000082 - PubMed: Beauchamp 2007 - - Germline - - - - - DNA SEQ - - GSD Pat7 PubMed: Beauchamp 2007 - F no Poland - - - - - 1 LOVD
+/. 10 c.1195C>T r.(?) p.(Arg399*) Paternal (confirmed) ACMG pathogenic (recessive) g.51382587G>A - - - PYGL_000082 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P44 PubMed: Luo 2022 - F no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+?/? 10 c.1208T>A r.(?) p.(Ile403Asn) Unknown - likely pathogenic g.51382574A>T g.50915856A>T - - PYGL_000004 - - - - Unknown - - - - - DNA SEQ-NG-I, SEQ - - GSD6 - - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+?/. 10 c.1219A>G r.(?) p.(Ile407Val) Maternal (confirmed) ACMG likely pathogenic (recessive) g.51382563T>C - - - PYGL_000081 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P24 PubMed: Luo 2022 - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+/. 10i c.1239+1G>A r.spl? p.? Paternal (confirmed) ACMG pathogenic (recessive) g.51382542C>T - - - PYGL_000080 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P20 PubMed: Luo 2022 - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
?/. - c.1274G>A r.(?) p.(Arg425His) Unknown - VUS g.51382183C>T - PYGL(NM_002863.5):c.1274G>A (p.(Arg425His)) - PYGL_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1279A>T r.(?) p.(Arg427*) Paternal (confirmed) ACMG pathogenic (recessive) g.51382178T>A - - - PYGL_000079 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P1 PubMed: Luo 2022 - F no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+/. 11 c.1366G>A r.(?) p.(Val456Met) Unknown ACMG pathogenic (recessive) g.51382091C>T g.50915373C>T - - PYGL_000031 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P6 PubMed: Luo 2022 - M no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. - c.1366G>A r.(?) p.(Val456Met) Parent #1 - pathogenic (recessive) g.51382091C>T g.50915373C>T - - PYGL_000031 - PubMed: Beauchamp 2007 - - Germline - - - - - DNA SEQ - - GSD Pat3 PubMed: Beauchamp 2007 2-generation family, 2 affected sibs (2M), unaffected heterozygous carrier parents M no France - - - - - 2 LOVD
+/. - c.1366G>A r.(?) p.(Val456Met) Parent #1 - pathogenic (recessive) g.51382091C>T g.50915373C>T - - PYGL_000031 - PubMed: Beauchamp 2007 - - Germline - - - - - DNA SEQ - - GSD Pat4 PubMed: Beauchamp 2007 sib M no France - - - - - 1 LOVD
+?/. 11 c.1366G>A r.(?) p.(Val456Met) Parent #1 - likely pathogenic (recessive) g.51382091C>T g.50915373C>T - - PYGL_000031 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat7 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
+/. 11 c.1366G>A r.(?) p.(Val456Met) Maternal (confirmed) ACMG pathogenic (recessive) g.51382091C>T - - - PYGL_000031 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P45 PubMed: Luo 2022 - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+?/. 11 c.1379A>C r.(?) p.(His460Pro) Paternal (confirmed) ACMG likely pathogenic (recessive) g.51382078T>G g.50915360T>G - - PYGL_000042 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P32 PubMed: Luo 2022 - M yes China - - - - uncooked corn starch 1 Wenjuan Qiu
?/. 11 c.1390G>A r.(?) p.(Val464Met) Both (homozygous) ACMG VUS g.51382067C>T g.50915349C>T - - PYGL_000034 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P18 PubMed: Luo 2022 - M no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. 11 c.1392_1393insT r.(?) p.(Lys465*) Maternal (confirmed) ACMG pathogenic (recessive) g.51382064_51382065insA g.50915346_50915347insA - - PYGL_000035 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P4 PubMed: Luo 2022 - M no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. 11i c.1403+2T>A r.spl p.? Paternal (confirmed) ACMG pathogenic (recessive) g.51382052A>T g.50915334A>T - - PYGL_000040 - PubMed: Luo 2022 - - Germline - - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P21 PubMed: Luo 2022 - M - China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. - c.1471C>T r.(?) p.(Arg491Cys) Parent #1 - pathogenic (recessive) g.51381466G>A g.50914748G>A - - PYGL_000078 - PubMed: Beauchamp 2007 - - Germline - - - - - DNA SEQ - - GSD Pat2 PubMed: Beauchamp 2007 - F no United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 12 c.1472G>A r.(?) p.(Arg491His) Maternal (confirmed) - likely pathogenic (recessive) g.51381465C>T g.50914747C>T - - PYGL_000077 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat6 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
+/. 12 c.1475G>A r.(?) p.(Trp492*) Paternal (confirmed) ACMG pathogenic (recessive) g.51381462C>T g.50914744C>T - - PYGL_000033 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG-I blood - GSD6 GSD6_P16 PubMed: Luo 2022 - F no China Chinese - - - uncooked corn starch 1 Wenjuan Qiu
+/. 12 c.1475G>A r.(?) p.(Trp492*) Maternal (confirmed) ACMG pathogenic (recessive) g.51381462C>T - - - PYGL_000033 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P7 PubMed: Luo 2022 - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+/. 12 c.1475G>A r.(?) p.(Trp492*) Maternal (confirmed) ACMG pathogenic (recessive) g.51381462C>T - - - PYGL_000033 - PubMed: Luo 2022 - - Germline yes - - - - DNA SEQ-NG blood - GSD6 GSD6_P11 PubMed: Luo 2022 - F no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+?/. 12 c.1499T>G r.(?) p.(Leu500Arg) Both (homozygous) - likely pathogenic (recessive) g.51381438A>C g.50914720A>C - - PYGL_000076 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat2 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
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