Full data view for gene G6PC

NOTE: gene name changed from G6PC to G6PC1
Information The variants shown are described using the NM_000151.3 transcript reference sequence.

114 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_1i c.(?_-80)_(230+19_231-1)del r.0? p.0? Paternal (confirmed) - pathogenic g.(41000000_41050890)_(41053142_41055947)del - g.41050890_41053142del - G6PC_000013 - PubMed: Giugliano 2018 - - Germline - - - - - DNA arrayCGH - - MYOP Patient XX PubMed: Giugliano 2018 - M - Italy - - - - - 1 Teresa Giugliano
-?/. - c.-77G>A r.(?) p.(=) Unknown - likely benign g.41052817G>A - G6PC1(NM_001270397.2):c.-77G>A - G6PC_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_5_ c.(340+1_341-1)_*3007{0} r.? p.? Both (homozygous) - pathogenic (recessive) g.(41056058_41059539)_(41066450_?)del - E3-E5 del - G6PC_000038 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P1 PubMed: Wang 2013 - M - United States - - - - - 1 LOVD
+/. - c.79del r.(?) p.(Gln27ArgfsTer9) Unknown - pathogenic g.41052972del - G6PC1(NM_000151.4):c.79delC (p.Q27Rfs*9) - G6PC_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.79del r.(?) p.(Gln27Argfs*9) Parent #1 - pathogenic (recessive) g.41052972del - 158delC (35X) - G6PC_000037 - PubMed: Lei 1995 - - Germline - 4/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A #1 PubMed: Lei 1995 - - - - - - - - - 4 Johan den Dunnen
+/. - c.79del r.(?) p.(Gln27ArgfsTer9) Parent #1 - pathogenic (recessive) g.41052972del g.42900955del 79delC - G6PC_000037 ACMG PSV1, PS4mod, PM2 PubMed: Kessel 2021 VCV000021062.8 - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT ? PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
./. - c.96_97del r.(?) p.(Leu32Phefs*28) Unknown - likely pathogenic g.41052989_41052990del g.42900972_42900973del NM_000151.3(G6PC):c.96_97del p.(Leu32Phefs*28) - G6PC_000021 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-125A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
+/. - c.113A>T r.(?) p.(Asp38Val) Unknown - pathogenic g.41053006A>T - G6PC1(NM_000151.4):c.113A>T (p.D38V) - G6PC_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.132C>T r.(?) p.(Tyr44=) Unknown - likely benign g.41053025C>T - G6PC(NM_001270397.1):c.132C>T (p.Y44=) - G6PC_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.136C>T r.(?) p.(Leu46Phe) Unknown - likely benign g.41053029C>T g.42901012C>T G6PC(NM_000151.2):c.136C>T (p.L46F) - G6PC_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.181C>T r.(?) p.(Leu61Phe) Unknown - likely pathogenic g.41053074C>T g.42901057C>T NM_000151.3(G6PC):c.181C>T p.(Leu61Phe) - G6PC_000022 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-049A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
+/. - c.188G>A r.(?) p.(Trp63*) Parent #1 - pathogenic (recessive) g.41053081G>A - G268A (W63X) - G6PC_000055 - PubMed: Lei 1995 - - Germline - 2/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A #2 PubMed: Lei 1995 - - - - - - - - - 2 Johan den Dunnen
+/. - c.189G>A r.(?) p.(Trp63*) Unknown - pathogenic g.41053082G>A - G6PC(NM_000151.2):c.189G>A (p.W63*), G6PC1(NM_000151.4):c.189G>A (p.W63*) - G6PC_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.189G>A r.(?) p.(Trp63*) Unknown - pathogenic g.41053082G>A - G6PC(NM_000151.2):c.189G>A (p.W63*), G6PC1(NM_000151.4):c.189G>A (p.W63*) - G6PC_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.209G>A r.(?) p.(Trp70Ter) Unknown - pathogenic g.41053102G>A g.42901085G>A - - G6PC_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231-4A>G r.spl? p.? Unknown - likely benign g.41055944A>G g.42903927A>G G6PC(NM_001270397.1):c.231-4A>G - G6PC_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.247C>T r.(?) p.(Arg83Cys) Unknown - pathogenic g.41055964C>T g.42903947C>T G6PC(NM_000151.2):c.247C>T (p.R83C), G6PC(NM_001270397.1):c.247C>T (p.R83C) - G6PC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.247C>T r.(?) p.(Arg83Cys) Unknown - pathogenic g.41055964C>T g.42903947C>T - - G6PC_000001 - - - - Unknown - - - - - DNA SEQ-NG-I, SEQ - - GSD1B - - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
?/? 2 c.247C>T r.(?) p.(Arg83Cys) Unknown - VUS g.41055964C>T g.42903947C>T - - G6PC_000001 - - - rs1801175 Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 LOVD
+/? 2 c.247C>T r.(?) p.(Arg83Cys) Maternal (confirmed) - pathogenic g.41055964C>T g.42903947C>T 362C>T - G6PC_000001 - PubMed: Lei 1993, OMIM:var0002 - - Unknown - - - - - DNA SEQ - - GSD1A - - liver biopsy G6Pase activity undetectable - - United States - - - - - 1 LOVD
+/. - c.247C>T r.(?) p.(Arg83Cys) Parent #1 - pathogenic g.41055964C>T g.42903947C>T - - G6PC_000001 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1801175 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.247C>T r.(?) p.(Arg83Cys) Unknown - VUS g.41055964C>T - - - G6PC_000001 - PubMed: Razaq 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES BMD/DMD, WEST patient PubMed: Razaq 2021 - M no United States Middle East;Hispanic - - - - 1 Johan den Dunnen
?/. - c.247C>T r.(?) p.(Arg83Cys) Unknown - VUS g.41055964C>T - G6PC(NM_000151.2):c.247C>T (p.R83C), G6PC(NM_001270397.1):c.247C>T (p.R83C) - G6PC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.247C>T r.(?) p.(Arg83Cys) Both (homozygous) ACMG likely pathogenic g.41055964C>T g.42903947C>T G6PC, NM_000151.3, c.247C>T, p.Arg83Cys - G6PC_000001 homozygous PubMed: Alfares 2018 - - Unknown ? frequency in 1500 in-house samples: 0 - - - DNA SEQ-NG - exome sequencing done at a commercial CAPaccredited laboratory retinal disease 20 PubMed: Alfares 2018 - M - - - - - - - 1 LOVD
+/. - c.247C>T r.(?) p.(Arg83Cys) Parent #1 - pathogenic (recessive) g.41055964C>T g.42903947C>T - - G6PC_000001 combination alleles not determined PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. - c.247C>T r.(?) p.(Arg83Cys) Parent #1 - pathogenic (recessive) g.41055964C>T g.42903947C>T R83C - G6PC_000001 - PubMed: Lei 1995 - - Germline - 52/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A - PubMed: Lei 1995 - - - - - - - - - 38 Johan den Dunnen
+/. - c.247C>T r.(?) p.(Arg83Cys) Both (homozygous) - pathogenic (recessive) g.41055964C>T g.42903947C>T R83C - G6PC_000001 - PubMed: Lei 1995 - - Germline - 52/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A - PubMed: Lei 1995 - - - United States Jew - - - - 1 Johan den Dunnen
+/. - c.247C>T r.(?) p.(Arg83Cys) Both (homozygous) - pathogenic (recessive) g.41055964C>T g.42903947C>T R83C - G6PC_000001 - PubMed: Lei 1995 - - Germline - 52/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A - PubMed: Lei 1995 - - - United States Jew - - - - 1 Johan den Dunnen
+/. - c.247C>T r.(?) p.(Arg83Cys) Both (homozygous) - pathogenic (recessive) g.41055964C>T g.42903947C>T R83C - G6PC_000001 - PubMed: Lei 1995 - - Germline - 52/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A - PubMed: Lei 1995 - - - United States Jew - - - - 1 Johan den Dunnen
+/. - c.247C>T r.(?) p.(Arg83Cys) Both (homozygous) - pathogenic (recessive) g.41055964C>T g.42903947C>T R83C - G6PC_000001 - PubMed: Lei 1995 - - Germline - 52/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A - PubMed: Lei 1995 - - - United States Jew - - - - 1 Johan den Dunnen
+/. - c.247C>T r.(?) p.(Arg83Cys) Both (homozygous) - pathogenic (recessive) g.41055964C>T g.42903947C>T R83C - G6PC_000001 - PubMed: Lei 1995 - - Germline - 52/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A - PubMed: Lei 1995 - - - United States Jew - - - - 1 Johan den Dunnen
+/. - c.247C>T r.(?) p.(Arg83Cys) Both (homozygous) - pathogenic (recessive) g.41055964C>T g.42903947C>T R83C - G6PC_000001 - PubMed: Lei 1995 - - Germline - 52/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A - PubMed: Lei 1995 - - - United States Jew - - - - 1 Johan den Dunnen
+/. - c.247C>T r.(?) p.(Arg83Cys) Parent #1 - pathogenic (recessive) g.41055964C>T g.42903947C>T R83C - G6PC_000001 - PubMed: Lei 1995 - - Germline - 52/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A - PubMed: Lei 1995 - - - United States Jew - - - - 1 Johan den Dunnen
+/. - c.247C>T r.(?) p.(Arg83Cys) Parent #1 - pathogenic (recessive) g.41055964C>T g.42903947C>T R83C - G6PC_000001 - PubMed: Lei 1995 - - Germline - 52/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A - PubMed: Lei 1995 - - - United States Jew - - - - 1 Johan den Dunnen
+/. - c.247C>T r.(?) p.(Arg83Cys) Both (homozygous) - pathogenic (recessive) g.41055964C>T - C326T - G6PC_000001 - PubMed: Lei 1995 - - Germline - - - - - DNA SEQ - - GSD1A PatAN PubMed: Lei 1995 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. - c.247C>T r.(?) p.(Arg83Cys) Maternal (confirmed) - pathogenic (recessive) g.41055964C>T - C326T - G6PC_000001 - PubMed: Lei 1995 - - Germline - - - - - DNA SEQ - - GSD1A PatCA PubMed: Lei 1995 2-generation family, 1 affected, unaffected heterozygous carrier mother - - United States - - - - - 1 Johan den Dunnen
+/. - c.247C>T r.(?) p.(Arg83Cys) Paternal (confirmed) - pathogenic (recessive) g.41055964C>T - C326T - G6PC_000001 - PubMed: Lei 1995 - - Germline - - - - - DNA SEQ - - GSD1A PatJD PubMed: Lei 1995 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. - c.247C>T r.(?) p.(Arg83Cys) Paternal (confirmed) - pathogenic (recessive) g.41055964C>T - C326T - G6PC_000001 - PubMed: Lei 1995 - - Germline - - - - - DNA SEQ - - GSD1A PatPG PubMed: Lei 1995 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. - c.247C>T r.(?) p.(Arg83Cys) Parent #1 - pathogenic (recessive) g.41055964C>T - - - G6PC_000001 no detectable phosphohydrolase activity PubMed: Lei 1994 - - Germline - - - - - DNA SEQ - - GSD1A PatLLP PubMed: Lei 1994 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.248G>A r.(?) p.(Arg83His) Parent #1 - pathogenic (recessive) g.41055965G>A - G327A (R83H) - G6PC_000056 - PubMed: Lei 1995 - - Germline - 8/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A #3 PubMed: Lei 1995 - - - - - - - - - 4 Johan den Dunnen
+/. - c.248G>A r.(?) p.(Arg83His) Both (homozygous) - pathogenic (recessive) g.41055965G>A - R83H - G6PC_000056 - PubMed: Lei 1995 - - Germline - 8/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A - PubMed: Lei 1995 - - - China - - - - - 1 Johan den Dunnen
+/. - c.248G>A r.(?) p.(Arg83His) Parent #1 - pathogenic (recessive) g.41055965G>A - R83H - G6PC_000056 - PubMed: Lei 1995 - - Germline - 8/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A - PubMed: Lei 1995 - - - China - - - - - 1 Johan den Dunnen
+/. - c.248G>A r.(?) p.(Arg83His) Parent #2 - pathogenic (recessive) g.41055965G>A g.42903948G>A - - G6PC_000056 ACMG PS3, PS4mod, PM2, PP3 PubMed: Kessel 2021 VCV000038300.7 - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT ? PubMed: Kessel 2021 patient - - Denmark - - - - - 1 Johan den Dunnen
-/. - c.340+10C>A r.(=) p.(=) Unknown - benign g.41056067C>A g.42904050C>A G6PC(NM_000151.2):c.340+10C>A, G6PC(NM_001270397.1):c.340+10C>A - G6PC_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.340+10C>A r.(=) p.(=) Unknown - likely benign g.41056067C>A g.42904050C>A G6PC(NM_000151.2):c.340+10C>A, G6PC(NM_001270397.1):c.340+10C>A - G6PC_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.379_380dup r.(?) p.(Tyr128Thrfs*3) Unknown - VUS g.41059578_41059579dup g.42907561_42907562dup - - G6PC_000004 - - - rs80356488 Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 LOVD
+/? 3 c.379_380dup r.(?) p.(Tyr128Thrfs*3) Maternal (confirmed) - pathogenic g.41059578_41059579dup g.42907561_42907562dup 459insAT - G6PC_000004 - PubMed: Lei 1993, OMIM:var0001 - - Unknown - - - - - DNA SEQ - - GSD1A - - - - - United States - - - - - 1 LOVD
+/? 3 c.379_380dup r.(?) p.(Tyr128Thrfs*3) Maternal (confirmed) - pathogenic g.41059578_41059579dup g.42907561_42907562dup 459insAT - G6PC_000004 - PubMed: Lei 1993, OMIM:var0002 - - Unknown - - - - - DNA SEQ - - GSD1A - - - - - United States - - - - - 1 LOVD
+/. - c.379_380dup r.(?) p.(Tyr128Thrfs*3) Parent #1 - pathogenic (recessive) g.41059578_41059579dup g.42907561_42907562dup 379_380dupTA - G6PC_000004 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P2 PubMed: Wang 2013 - M - United States - - - - - 1 LOVD
+/. - c.379_380dup r.(?) p.(Tyr128Thrfs*3) Both (homozygous) - pathogenic (recessive) g.41059578_41059579dup g.42907561_42907562dup 379_380dupTA - G6PC_000004 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P22 PubMed: Wang 2013 - M - United States - - - - - 1 LOVD
+/. - c.379_380dup r.(?) p.(Tyr128Thrfs*3) Parent #1 - pathogenic (recessive) g.41059578_41059579dup g.42907561_42907562dup 130X (459insTA) - G6PC_000004 - PubMed: Lei 1995 - - Germline - 9/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A - PubMed: Lei 1995 - - - - Hispanic - - - - 9 Johan den Dunnen
+/. - c.379_380dup r.(?) p.(Tyr128Thrfs*3) Maternal (confirmed) - pathogenic (recessive) g.41059578_41059579dup - 459insTA (130X) - G6PC_000004 - PubMed: Lei 1995 - - Germline - - - - - DNA SEQ - - GSD1A PatPG PubMed: Lei 1995 2-generation family, 1 affected, unaffected heterozygous carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. - c.379_380dup r.(?) p.(Tyr128Thrfs*3) Maternal (confirmed) - pathogenic (recessive) g.41059578_41059579dup - 459insTA (130X) - G6PC_000004 - PubMed: Lei 1995 - - Germline - - - - - DNA SEQ - - GSD1A PatRH PubMed: Lei 1995 2-generation family, 1 affected, unaffected heterozygous carrier mother - - United States - - - - - 1 Johan den Dunnen
+/. 3 c.379_380dup r.(?) p.(Tyr128Thrfs*3) Parent #1 ACMG pathogenic (recessive) g.41059578_41059579dup g.42907561_42907562dup - - G6PC_000004 Peeks 2017:28397058, Wang 2013:22899091, Koeberl 2021:19541498 - ClinVar-11997 rs80356488 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing GSD1A 3bINP-029 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
-?/. - c.408C>T r.(?) p.(Ser136=) Unknown - likely benign g.41059607C>T - G6PC(NM_000151.2):c.408C>T (p.S136=) - G6PC_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.432G>A r.(?) p.(Pro144=) Unknown - benign g.41059631G>A g.42907614G>A G6PC(NM_001270397.2):c.355G>A (p.D119N) - G6PC_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.500G>A r.(?) p.(Cys167Tyr) Parent #2 ACMG likely pathogenic (recessive) g.41061373G>A g.42909356G>A - - G6PC_000065 This variant was classified as per ACMG guidelines (Richards et al 2015) and the recently developed ACMG scoring system (Tavtigian et al 2020). This variant was found in trans with the heterozygous variant in G6PC1 (NM_000151.4:c.533C>T, p.Pro178Leu). - ClinVar-1682511 rs777552825 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing GSD1A 3bINP-107 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. - c.508C>T r.(?) p.(Arg170Ter) Unknown - pathogenic g.41061381C>T g.42909364C>T G6PC(NM_000151.2):c.508C>T (p.R170*), G6PC1(NM_000151.4):c.508C>T (p.R170*) - G6PC_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.508C>T r.(?) p.(Arg170Ter) Unknown - pathogenic g.41061381C>T - G6PC(NM_000151.2):c.508C>T (p.R170*), G6PC1(NM_000151.4):c.508C>T (p.R170*) - G6PC_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.509G>A r.(?) p.(Arg170Gln) Unknown - pathogenic (recessive) g.41061382G>A g.42909365G>A - - G6PC_000050 combination alleles not determined PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. - c.532C>T r.(?) p.(Pro178Ser) Parent #1 - pathogenic (recessive) g.41061405C>T - C611T (P178S) - G6PC_000057 - PubMed: Lei 1995 - - Germline - 1/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A #4 PubMed: Lei 1995 - - - - Hispanic - - - - 1 Johan den Dunnen
+/. - c.533C>T r.(?) p.(Pro178Leu) Parent #2 - pathogenic (recessive) g.41061406C>T g.42909389C>T - - G6PC_000039 - PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P2 PubMed: Wang 2013 - M - United States - - - - - 1 LOVD
+/. 4 c.533C>T r.(?) p.(Pro178Leu) Parent #1 ACMG pathogenic (recessive) g.41061406C>T g.42909389C>T - - G6PC_000039 This variant was classified as per ACMG guidelines (Richards et al 2015) and the recently developed ACMG scoring system (Tavtigian et al 2020). This variant was found in trans with the heterozygous variant in G6PC1 (NM_000151.4:c.500G>A, p.Cys167Tyr); Wang 2013:22899091, Ki 2004:15151508, Shieh 2002:11739393 - ClinVar-1682514 rs768803329 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing GSD1A 3bINP-107 PubMed: Vela-Amieva 2024 - F no Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
+/. - c.562G>A r.(?) p.(Gly188Ser) Parent #1 - pathogenic (recessive) g.41061435G>A - G641A (G188S) - G6PC_000058 - PubMed: Lei 1995 - - Germline - 2/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A #5 PubMed: Lei 1995 - - - - - - - - - 2 Johan den Dunnen
+/. - c.562G>C r.(?) p.(Gly188Arg) Unknown - pathogenic g.41061435G>C g.42909418G>C G6PC(NM_001270397.1):c.485G>C (p.R162T) - G6PC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.562G>C r.(?) p.(Gly188Arg) Unknown - pathogenic g.41061435G>C g.42909418G>C G6PC(NM_001270397.1):c.485G>C (p.R162T) - G6PC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.563-20T>A r.(=) p.(=) Unknown - likely benign g.41062912T>A - G6PC(NM_000151.2):c.563-20T>A - G6PC_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.595C>T r.(?) p.(His199Tyr) Unknown - VUS g.41062964C>T g.42910947C>T G6PC(NM_001270397.1):c.518C>T (p.P173L) - G6PC_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.664G>C r.(?) p.(Gly222Arg) Parent #1 - pathogenic (recessive) g.41063033G>C g.42911016G>C G222R (G743C) - G6PC_000061 - PubMed: Lei 1995 - - Germline - 1/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A - PubMed: Lei 1995 - - - - - - - - - 1 Johan den Dunnen
+/. - c.664G>C r.(?) p.(Gly222Arg) Parent #1 - pathogenic (recessive) g.41063033G>C - G743C - G6PC_000061 - PubMed: Lei 1995 - - Germline - - - - - DNA SEQ - - GSD1A PatML - - - - United States - - - - - 1 Johan den Dunnen
+/. - c.706T>A r.(?) p.(Trp236Arg) Parent #1 - pathogenic (recessive) g.41063075T>A - T785A (W236R) - G6PC_000059 - PubMed: Lei 1995 - - Germline - 1/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A #6 PubMed: Lei 1995 - - - - Hispanic - - - - 1 Johan den Dunnen
+/. - c.724C>T r.(?) p.(Gln242*) Parent #1 - pathogenic (recessive) g.41063093C>T - C803T (Q242X) - G6PC_000060 - PubMed: Lei 1995 - - Germline - 3/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A #7 PubMed: Lei 1995 - - - - - - - - - 3 Johan den Dunnen
+/. 5 c.735_742delinsGCGAGCAG r.(?) p.(Cys245_Pro248delinsTrpArgAlaAla) Parent #1 - pathogenic (recessive) g.41063104_41063111delinsGCGAGCAG g.42911087_42911094delinsGCGAGCAG 813insG-822delC (CEQP245-248WRAA), (734dup;743del) - G6PC_000052 - PubMed: Lei 1995 - - Germline - 1/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A #8 PubMed: Lei 1995 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.788del r.(?) p.(Lys263ArgfsTer38) Unknown - likely pathogenic g.41063157del g.42911140del G6PC1(NM_000151.4):c.788delA (p.K263Rfs*38) - G6PC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.788del r.(?) p.(Lys263ArgfsTer38) Unknown - pathogenic g.41063157del - G6PC1(NM_000151.4):c.788delA (p.K263Rfs*38) - G6PC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.809G>T r.(?) p.(Gly270Val) Parent #1 - pathogenic (recessive) g.41063178G>T - G888T (G270V) - G6PC_000053 - PubMed: Lei 1995 - - Germline - 1/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A #9 PubMed: Lei 1995 - - - - - - - - - 1 Johan den Dunnen
+/. - c.809G>T r.(?) p.(Gly270Val) Unknown - pathogenic g.41063178G>T - G6PC1(NM_000151.4):c.809G>T (p.G270V) - G6PC_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.809G>T r.(?) p.(Gly270Val) Both (homozygous) ACMG pathogenic (recessive) g.41063178G>T g.42911161G>T - - G6PC_000053 Peeks 2017:28397058, Allegrini 2017:28659124, Beegle 2015:25308557 - ClinVar-21063 rs80356483 Germline yes - - - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing GSD1A 3bINP-102 PubMed: Vela-Amieva 2024 Parents with inbreeding and consanguinity (not molecularly tested). F yes Mexico Mexican - - - - 1 Miriam Erandi Reyna-Fabián
?/? 5 c.883C>T r.(?) p.(Arg295Cys) Unknown - VUS g.41063252C>T g.42911235C>T - - G6PC_000003 - - - rs104894563 Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 LOVD
+/? 5 c.883C>T r.(?) p.(Arg295Cys) Paternal (confirmed) - pathogenic g.41063252C>T g.42911235C>T 962C>T - G6PC_000003 - PubMed: Lei 1993, OMIM:var0003 - - Unknown - - - - - DNA SEQ - - GSD1A - - liver biopsy G6Pase activity undetectable - - United States - - - - - 1 LOVD
+/. - c.883C>T r.(?) p.(Arg295Cys) Parent #1 - pathogenic (recessive) g.41063252C>T g.42911235C>T R295C - G6PC_000003 - PubMed: Lei 1995 - - Germline - 2/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A - PubMed: Lei 1995 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.884G>A r.(?) p.(Arg295His) Unknown - likely pathogenic g.41063253G>A g.42911236G>A - - G6PC_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.909C>T r.(?) p.(Leu303=) Unknown - likely benign g.41063278C>T - G6PC(NM_000151.2):c.909C>T (p.L303=) - G6PC_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.910G>A r.(?) p.(Val304Ile) Unknown - likely benign g.41063279G>A g.42911262G>A G6PC(NM_000151.2):c.910G>A (p.V304I) - G6PC_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.910G>A r.(?) p.(Val304Ile) Unknown - likely benign g.41063279G>A - G6PC(NM_000151.2):c.910G>A (p.V304I) - G6PC_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.944C>T r.(?) p.(Pro315Leu) Unknown - VUS g.41063313C>T - G6PC(NM_000151.2):c.944C>T (p.P315L) - G6PC_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.948C>A r.(?) p.(Ser316=) Unknown - likely benign g.41063317C>A - G6PC(NM_000151.2):c.948C>A (p.S316=) - G6PC_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.954C>T r.(?) p.(Val318=) Unknown - likely benign g.41063323C>T g.42911306C>T G6PC(NM_000151.2):c.954C>T (p.V318=) - G6PC_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.980_982del r.(?) p.(Phe327del) Unknown - pathogenic g.41063349_41063351del - G6PC(NM_000151.2):c.980_982delTCT (p.F327del), G6PC1(NM_000151.4):c.980_982delTCT (p.F327del) - G6PC_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.980_982del r.(?) p.(Phe327del) Unknown - pathogenic g.41063349_41063351del - G6PC(NM_000151.2):c.980_982delTCT (p.F327del), G6PC1(NM_000151.4):c.980_982delTCT (p.F327del) - G6PC_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.980_982del r.(?) p.(Phe327del) Parent #1 - pathogenic (recessive) g.41063349_41063351del g.42911332_42911334del delF327 - G6PC_000044 - PubMed: Lei 1995 - - Germline - 4/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A - PubMed: Lei 1995 - - - - - - - - - 1 Johan den Dunnen
+/. - c.980_982del r.(?) p.(Phe327del) Paternal (inferred) - pathogenic (recessive) g.41063349_41063351del - 1057delTTC - G6PC_000044 - PubMed: Lei 1995 - - Germline - - - - - DNA SEQ - - GSD1A PatCA PubMed: Lei 1995 2-generation family, 1 affected, unaffected heterozygous carrier mother - - United States - - - - - 1 Johan den Dunnen
-?/. - c.992C>T r.(?) p.(Ala331Val) Unknown - likely benign g.41063361C>T - G6PC(NM_000151.2):c.992C>T (p.A331V) - G6PC_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002C>T r.(?) p.(Pro334=) Unknown - likely benign g.41063371C>T - G6PC(NM_000151.2):c.1002C>T (p.P334=) - G6PC_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1012G>T r.(?) p.(Val338Phe) Unknown - likely pathogenic g.41063381G>T g.42911364G>T G6PC1(NM_000151.4):c.1012G>T (p.V338F) - G6PC_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1022T>A r.(?) p.(Ile341Asn) Parent #1 - pathogenic g.41063391T>A g.42911374T>A - - G6PC_000033 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387906505 Germline - 1/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 5 c.1034_1035inv r.(?) p.(Leu345Arg) Parent #1 - pathogenic (recessive) g.41063403_41063404inv - T1113G-C1114A (L345R) - G6PC_000054 - PubMed: Lei 1995 - - Germline - 1/140 case chromosomes - - - DNA SEQ, SSCA - - GSD1A #10 PubMed: Lei 1995 - - - - - - - - - 1 Johan den Dunnen
+/? 5 c.1039C>T r.(?) p.(Gln347*) Unknown - pathogenic g.41063408C>T g.42911391C>T - - G6PC_000002 - - - - Unknown - - - - - DNA SEQ-NG-I, SEQ - - GSD1B - - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
?/? 5 c.1039C>T r.(?) p.(Gln347*) Unknown - VUS g.41063408C>T g.42911391C>T - - G6PC_000002 - - - rs80356487 Unknown - - - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 1 LOVD
+/. - c.1039C>T r.(?) p.(Gln347*) Unknown - pathogenic g.41063408C>T - G6PC(NM_000151.2):c.1039C>T (p.Q347*) - G6PC_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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