G6PC1 (P35575) variants and mutations
G6PC1 (also known as P35575) is a human protein-coding gene encoding a glucose-6-phosphatase catalytic subunit 1 protein. It catalyzes the final step of hepatic and renal glucose production by hydrolyzing glucose-6-phosphate to free glucose. Biallelic loss-of-function variants cause glycogen storage disease type Ia, with fasting hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia, and hepatomegaly. This analysis covers 660 G6PC1 variants and mutations. Of these, 77% have computational variant effect predictions. Disease context includes glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency, and Glycogen storage disease due to glucose-6-phosphatase deficiency type a. Example G6PC1 variants include E2E, E3K, and E3E.
Variant analysis overview
- Gene: G6PC1
- Protein: P35575
- UniProt accession: P35575
- Organism: Homo sapiens
- Variants analyzed: 660
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 464 unspecified-consequence records; 61 synonymous variants; 107 missense variants; 15 frameshift variants; 5 stop-gained variants; 7 substitution
- Prediction scores: 509 variants have prediction scores (77% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency, Glycogen storage disease due to glucose-6-phosphatase deficiency type a, glycogen storage disease I, disorder of glycogen metabolism, hereditary disease, Glycogen storage disease due to glycogenin deficiency, Hypoglycemia, Short stature, Increased hepatic glycogen content, response to statin, Varicose veins.
Protein structure and variant hotspots
- Protein features: 9 transmembrane segments; 2 binding sites; 1 post-translational modification sites.
- Structural context: 346 variants have structural context.
- PTM context: 3 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable G6PC1 variants
Examples include E2E, E3K, E3E, G4E, M5I, M5K, M5R, N6D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- E2E (p.Glu2Glu), rs2056020801, gnomAD 17-42900882-G-A, CADD 8.00
- E3K (p.Glu3Lys), gnomAD rs2056020829, REVEL 0.06, CADD 14.00, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- E3E (p.Glu3Glu), rs2151929054, gnomAD 17-42900885-A-G, CADD 6.28
- G4E (p.Gly4Glu), rs1416734457, NCI-TCGA Cosmic COSV9952, cosmic curated COSV99520, TOPMed rs1416734457, REVEL 0.13, CADD 16.70, Variant assessed as somatic; moderate impact.
- M5I (p.Met5Ile), rs374766396, ClinGen CA399649733, NCI-TCGA Cosmic COSV9952, cosmic curated COSV99520, REVEL 0.76, CADD 26.20, Likely pathogenic, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- M5K (p.Met5Lys), rs1250172816, ClinGen CA399649708, ClinVar RCV003057769, AlphaMissense 0.34, MetaLR 0.67, Likely pathogenic, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- M5R (p.Met5Arg), rs1250172816, ClinGen CA399649725, ClinVar RCV000671160, ClinVar RCV004702297, REVEL 0.92, AlphaMissense 0.34, Pathogenic/Likely pathogenic, not provided; Glycogen storage disease due to glucose-6-phosphatase deficiency t
- N6D (p.Asn6Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- N6K (p.Asn6Lys), rs144652516, ClinGen CA399649767, ClinVar RCV002239884, ESP rs144652516, REVEL 0.25, CADD 9.31, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- N6S (p.Asn6Ser), ExAC rs776795347, gnomAD rs776795347, REVEL 0.33, CADD 23.10
- N6T (p.Asn6Thr), gnomAD 17-42900893-A-C, REVEL 0.37, MetaLR 0.36
- N6N (p.Asn6Asn), rs144652516, gnomAD 17-42900894-T-C, CADD 3.48
- V7I (p.Val7Ile), Ensembl rs758837069
- L8F (p.Leu8Phe), rs1257822732, gnomAD rs1257822732, REVEL 0.42, CADD 24.30, Variant assessed as somatic; moderate impact.
- L8I (p.Leu8Ile), gnomAD 17-42900898-C-A, REVEL 0.27, MetaLR 0.51
- L8P (p.Leu8Pro), gnomAD 17-42900899-T-C, REVEL 0.80, MetaLR 0.66
- L8L (p.Leu8Leu), gnomAD 17-42900900-C-T, CADD 6.80
- H9Q (p.His9Gln), rs1597986754, ClinGen CA399649866, ClinVar RCV002622572, ClinVar RCV004066601, REVEL 0.30, CADD 8.72, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA; not sp
- H9R (p.His9Arg), ExAC rs770007378, TOPMed rs770007378, gnomAD rs770007378, REVEL 0.54, CADD 23.30, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- D10G (p.Asp10Gly), gnomAD 17-42900905-A-G, REVEL 0.18, MetaLR 0.22
- F11S (p.Phe11Ser), gnomAD rs1162228925, REVEL 0.19, CADD 22.30
- F11Y (p.Phe11Tyr), gnomAD rs1162228925
- G12V (p.Gly12Val), rs775755718, NCI-TCGA Cosmic COSV9952, cosmic curated COSV99520, ExAC rs775755718, REVEL 0.93, CADD 26.90, Variant assessed as somatic; moderate impact.
- G12W (p.Gly12Trp), NCI-TCGA Cosmic COSV9952, cosmic curated COSV99520, Variant assessed as somatic; moderate impact.
- G12R (p.Gly12Arg), gnomAD 17-42900910-G-C, REVEL 0.92, MetaLR 0.85
- I13T (p.Ile13Thr), ExAC rs762723628, gnomAD rs762723628, REVEL 0.66, CADD 23.80
- I13S (p.Ile13Ser), gnomAD 17-42900909-TG-T, CADD 28.70
- Q14H (p.Gln14His), ExAC rs763922040, gnomAD rs763922040, REVEL 0.13, CADD 16.00, Likely benign
- Q14R (p.Gln14Arg), gnomAD rs1216917400
- Q14* (p.Gln14Ter), gnomAD 17-42900916-C-T, CADD 35.00
- Q14Q (p.Gln14Gln), rs763922040, gnomAD 17-42900918-G-A, CADD 7.12
- S15* (p.Ser15Ter), gnomAD 17-42900920-C-G, CADD 35.00
- S15L (p.Ser15Leu), gnomAD 17-42900920-C-T, REVEL 0.20, MetaLR 0.21
- S15S (p.Ser15Ser), rs1394010585, gnomAD 17-42900921-A-C, CADD 6.11
- T16A (p.Thr16Ala), rs761839506, ClinGen CA8587482, ClinVar RCV003123371, UniProt VAR 046250, REVEL 0.49, CADD 23.00, Conflicting interpretations, not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency
- T16R (p.Thr16Arg), rs1555558914, ClinGen CA399650038, ClinVar RCV000670061, UniProt VAR 046251, REVEL 0.57, CADD 24.20, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- T16I (p.Thr16Ile), gnomAD 17-42900923-C-T, REVEL 0.22, MetaLR 0.13
- T16T (p.Thr16Thr), rs1336371097, gnomAD 17-42900924-A-G, CADD 2.62
- H17Q (p.His17Gln), gnomAD 17-42900927-T-A, REVEL 0.03, MetaLR 0.11
- H17H (p.His17His), rs1356393936, gnomAD 17-42900927-T-C, CADD 6.27
- Y18* (p.Tyr18Ter), rs1414234636, ClinGen CA399650105, ClinVar RCV002237075, gnomAD rs1414234636, Pathogenic
- Y18C (p.Tyr18Cys), NCI-TCGA TCGA novel, REVEL 0.66, CADD 27.30, Variant assessed as somatic; moderate impact.
- L19H (p.Leu19His), gnomAD rs1291588614, REVEL 0.93, CADD 27.60
- L19P (p.Leu19Pro), gnomAD rs1291588614
- L19F (p.Leu19Phe), gnomAD 17-42900931-C-T, REVEL 0.77, MetaLR 0.76
- Q20* (p.Gln20Ter), NCI-TCGA Cosmic COSV5383, cosmic curated COSV53833, Variant assessed as somatic; high impact., in GSD1A
- Q20R (p.Gln20Arg), rs2056021410, ClinGen CA399650159, cosmic curated COSV53832, ClinVar RCV001332225, AlphaMissense 0.63, MetaLR 0.71, Pathogenic/Likely pathogenic, not provided; Glycogen storage disease due to glucose-6-phosphatase deficiency t
- Q20P (p.Gln20Pro), gnomAD 17-42900935-A-C, REVEL 0.96, MetaLR 0.71
- N22N (p.Asn22Asn), rs766886771, gnomAD 17-42900942-T-C, CADD 8.34
- Y23* (p.Tyr23Ter), rs1597986791, ClinGen CA399650240, ClinVar RCV003625355, Pathogenic
- Y23N (p.Tyr23Asn), NCI-TCGA Cosmic COSV5383, cosmic curated COSV53830, Variant assessed as somatic; moderate impact.
- Y23H (p.Tyr23His), gnomAD 17-42900943-T-C, REVEL 0.63, MetaLR 0.52
- Q24* (p.Gln24Ter), rs2151929089, ClinGen CA399650242, ClinVar RCV002249997, Ensembl rs2151929089, Pathogenic
- D25E (p.Asp25Glu), ESP rs369488416, ExAC rs369488416, gnomAD rs369488416, REVEL 0.07, CADD 12.40
- D25N (p.Asp25Asn), Ensembl rs1015726069
- D25V (p.Asp25Val), Ensembl rs971322376
- D25D (p.Asp25Asp), gnomAD 17-42900951-C-T, CADD 9.43
- S26C (p.Ser26Cys), TOPMed rs1337808552, gnomAD rs1337808552, REVEL 0.12, CADD 20.20
- S26F (p.Ser26Phe), cosmic curated COSV53832, TOPMed rs1337808552, gnomAD rs1337808552, REVEL 0.33, CADD 18.90
- S26P (p.Ser26Pro), gnomAD 17-42900952-T-C, REVEL 0.36, MetaLR 0.44
- S26Y (p.Ser26Tyr), gnomAD 17-42900953-C-A, REVEL 0.31, MetaLR 0.21
- Q27* (p.Gln27Ter), rs1057516367, ClinGen CA16041840, cosmic curated COSV10502, ClinVar RCV000410536, Pathogenic
- Q27H (p.Gln27His), rs371611000, ClinGen CA8587485, ClinVar RCV000397508, ClinVar RCV003736717, REVEL 0.30, CADD 23.20, Uncertain significance, not specified; not provided; Glycogen storage disease due to glucose-6-phosphata
- Q27R (p.Gln27Arg), Ensembl rs1003600892
- Q27Q (p.Gln27Gln), rs371611000, gnomAD 17-42900957-G-A, CADD 9.68
- D28N (p.Asp28Asn), rs750711451, ClinGen CA8587487, ClinVar RCV001124471, ClinVar RCV004032254, REVEL 0.32, CADD 24.30, Uncertain significance, not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency
- D28D (p.Asp28Asp), rs758804611, gnomAD 17-42900960-C-T, CADD 9.16
- W29R (p.Trp29Arg), rs2544206444, ClinGen CA399650385, ClinVar RCV002931960, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- F30L (p.Phe30Leu), gnomAD 17-42900966-C-A, REVEL 0.61, MetaLR 0.46
- I31F (p.Ile31Phe), rs2544206450, ClinGen CA399650435, ClinVar RCV002636121, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- I31N (p.Ile31Asn), rs538960604, ClinGen CA290783683, ClinVar RCV002237076, 1000Genomes rs538960604, REVEL 0.20, CADD 22.60, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- L32* (p.Leu32Ter), TOPMed rs1825598245, gnomAD rs1825598245, CADD 35.00
- L32L (p.Leu32Leu), rs1185147855, gnomAD 17-42900970-T-C, CADD 8.13
- V33E (p.Val33Glu), rs778314834, ClinGen CA8587489, ClinVar RCV003513446, ExAC rs778314834, REVEL 0.83, CADD 24.40, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- V33L (p.Val33Leu), gnomAD 17-42900973-G-T, REVEL 0.31, MetaLR 0.45
- S34C (p.Ser34Cys), Ensembl rs2056021908, REVEL 0.82, CADD 25.40
- S34S (p.Ser34Ser), rs747426958, gnomAD 17-42900978-C-T, CADD 4.80
- V35M (p.Val35Met), rs757798234, ClinGen CA8587491, cosmic curated COSV10806, ClinVar RCV003063113, REVEL 0.07, CADD 11.10, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- V35V (p.Val35Val), rs1371309452, gnomAD 17-42900981-G-C, CADD 7.00
- I36N (p.Ile36Asn), gnomAD 17-42900983-T-A, REVEL 0.21, MetaLR 0.37
- I36M (p.Ile36Met), gnomAD 17-42900984-C-G, REVEL 0.28, MetaLR 0.26
- I36I (p.Ile36Ile), rs148461633, gnomAD 17-42900984-C-T, CADD 0.78
- A37P (p.Ala37Pro), ExAC rs781064575, TOPMed rs781064575, gnomAD rs781064575, Uncertain significance
- A37T (p.Ala37Thr), rs781064575, ClinGen CA8587493, NCI-TCGA Cosmic COSV5383, cosmic curated COSV53831, REVEL 0.59, CADD 25.90, Uncertain significance, not provided; Glycogen storage disease due to glucose-6-phosphatase deficiency t
- A37S (p.Ala37Ser), gnomAD 17-42900985-G-T, REVEL 0.52, MetaLR 0.63
- D38G (p.Asp38Gly), ExAC rs104894565, TOPMed rs104894565, gnomAD rs104894565, Pathogenic, in GSD1A
- D38N (p.Asp38Asn), NCI-TCGA Cosmic COSV5383, cosmic curated COSV53832, Variant assessed as somatic; moderate impact., in GSD1A
- D38V (p.Asp38Val), rs104894565, ClinGen CA256185, ClinVar RCV000012784, ClinVar RCV000507730, REVEL 0.95, CADD 25.70, Pathogenic, not specified; not provided; Glycogen storage disease due to glucose-6-phosphata
- D38Y (p.Asp38Tyr), gnomAD 17-42900988-G-T, REVEL 0.91, MetaLR 0.73
- L39F (p.Leu39Phe), NCI-TCGA Cosmic COSV5383, cosmic curated COSV53830, Variant assessed as somatic; moderate impact.
- L39R (p.Leu39Arg), gnomAD 17-42900992-T-G, REVEL 0.75, MetaLR 0.62
- L39L (p.Leu39Leu), gnomAD 17-42900993-C-T, CADD 8.91
- R40G (p.Arg40Gly), ESP rs376555092, TOPMed rs376555092, gnomAD rs376555092, REVEL 0.65, CADD 24.20, Uncertain significance, not specified
- R40K (p.Arg40Lys), Ensembl rs1373038535, REVEL 0.32, CADD 21.80
- N41D (p.Asn41Asp), rs991463430, ClinGen CA399650662, ClinVar RCV002927031, AlphaMissense 0.18, MetaLR 0.53, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- N41Y (p.Asn41Tyr), TOPMed rs991463430
- A42T (p.Ala42Thr), gnomAD rs1311303870, REVEL 0.20, CADD 15.90
- F43L (p.Phe43Leu), rs775667677, ClinGen CA8587494, ClinVar RCV003625330, ExAC rs775667677, REVEL 0.87, CADD 27.90, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Y44* (p.Tyr44Ter), rs202190197, ClinGen CA399650762, ClinVar RCV003065867, Pathogenic
- Y44Y (p.Tyr44Tyr), rs202190197, gnomAD 17-42901008-C-T, CADD 1.37
- V45I (p.Val45Ile), rs145749644, ClinGen CA290783715, NCI-TCGA Cosmic COSV5383, cosmic curated COSV53832, REVEL 0.13, CADD 13.80, Uncertain significance, not specified; not provided; Glycogen storage disease due to glucose-6-phosphata
- V45L (p.Val45Leu), rs145749644, ClinGen CA399650785, NCI-TCGA Cosmic COSV5383, ClinVar RCV003625052, REVEL 0.19, CADD 18.50, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- V45V (p.Val45Val), rs915251848, gnomAD 17-42901011-C-A, CADD 6.18
- L46F (p.Leu46Phe), ExAC rs570514299, TOPMed rs570514299, gnomAD rs570514299, REVEL 0.24, CADD 15.70, Uncertain significance, not specified
- L46P (p.Leu46Pro), gnomAD rs1394723737, REVEL 0.74, CADD 25.50
- L46S (p.Leu46Ser), rs1057517227, gnomAD 17-42901010-TC-T, CADD 22.50
- L46L (p.Leu46Leu), rs1408032738, gnomAD 17-42901014-C-T, CADD 9.98
- F47L (p.Phe47Leu), rs1597986869, ClinGen CA399650836, ClinVar RCV002606606, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- F47S (p.Phe47Ser), gnomAD 17-42901016-T-C, REVEL 0.96, MetaLR 0.67
- F47C (p.Phe47Cys), gnomAD 17-42901016-T-G, REVEL 0.94, MetaLR 0.67
- F47F (p.Phe47Phe), rs1597986869, gnomAD 17-42901017-C-T, CADD 6.84
- P48S (p.Pro48Ser), rs2056022466, ClinGen CA399650842, ClinVar RCV002828642, gnomAD rs2056022466, REVEL 0.89, CADD 25.00, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- P48A (p.Pro48Ala), gnomAD 17-42901018-C-G, REVEL 0.90, MetaLR 0.89
- I49N (p.Ile49Asn), TOPMed rs968043469, gnomAD rs968043469, REVEL 0.67, CADD 27.30
- I49V (p.Ile49Val), TOPMed rs1399015558, gnomAD rs1399015558, REVEL 0.19, CADD 16.80
- I49S (p.Ile49Ser), gnomAD 17-42901016-TC-T, CADD 20.10
- I49L (p.Ile49Leu), gnomAD 17-42901021-A-C, REVEL 0.10, MetaLR 0.20
- I49I (p.Ile49Ile), rs1304707892, gnomAD 17-42901023-C-T, CADD 9.62
- W50G (p.Trp50Gly), gnomAD 17-42901024-T-G, REVEL 0.75, MetaLR 0.62
- W50* (p.Trp50Ter), gnomAD 17-42901025-G-A, CADD 37.00
- W50C (p.Trp50Cys), rs1057516674, gnomAD 17-42901025-GGT-G, CADD 28.10
- H52L (p.His52Leu), rs1475897381, ClinGen CA399650927, ClinVar RCV003445327, AlphaMissense 0.29, MetaLR 0.54, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- H52Q (p.His52Gln), Ensembl rs968624599
- H52R (p.His52Arg), TOPMed rs1475897381
- H52H (p.His52His), gnomAD 17-42901032-T-C, CADD 5.14
- L53F (p.Leu53Phe), gnomAD 17-42901033-C-T, REVEL 0.24, MetaLR 0.28
- L53P (p.Leu53Pro), gnomAD 17-42901034-T-C, REVEL 0.71, MetaLR 0.64
- Q54P (p.Gln54Pro), rs1057517008, ClinGen CA16041843, ClinVar RCV000411603, UniProt VAR 009203, REVEL 0.52, CADD 11.90, Pathogenic, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Q54R (p.Gln54Arg), TOPMed rs1057517008, gnomAD rs1057517008, REVEL 0.08, CADD 7.25, Pathogenic, in GSD1A
- Q54Q (p.Gln54Gln), gnomAD 17-42901038-G-A, CADD 4.68
- A56D (p.Ala56Asp), rs2056022671, ClinGen CA399651030, ClinVar RCV003845012, ClinVar RCV005844322, AlphaMissense 0.12, MetaLR 0.23, Uncertain significance, not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency
- A56T (p.Ala56Thr), TOPMed rs1181764519, gnomAD rs1181764519, REVEL 0.10, CADD 14.90
- A56A (p.Ala56Ala), rs1347610465, gnomAD 17-42901044-T-C, CADD 11.20
- V57M (p.Val57Met), gnomAD rs1208223313, REVEL 0.78, CADD 27.20
- G58S (p.Gly58Ser), rs2544206613, ClinGen CA399651061, ClinVar RCV002912869, REVEL 0.75, CADD 28.80, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- G58C (p.Gly58Cys), gnomAD 17-42901048-G-T, REVEL 0.80, MetaLR 0.71
- G58G (p.Gly58Gly), rs1597986894, gnomAD 17-42901050-C-T, CADD 13.00
- I59F (p.Ile59Phe), ExAC rs774215572, TOPMed rs774215572, gnomAD rs774215572, Uncertain significance
- I59L (p.Ile59Leu), ExAC rs774215572, TOPMed rs774215572, gnomAD rs774215572, Uncertain significance
- I59V (p.Ile59Val), rs774215572, ClinGen CA8587497, ClinVar RCV002237082, ExAC rs774215572, REVEL 0.17, CADD 16.60, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- K60Q (p.Lys60Gln), TOPMed rs2056022818
- K60R (p.Lys60Arg), ExAC rs761595049, TOPMed rs761595049, gnomAD rs761595049, REVEL 0.10, CADD 17.70
- L61F (p.Leu61Phe), rs2544206624, ClinGen CA399651154, ClinVar RCV004067411, REVEL 0.75, CADD 25.20, Uncertain significance, not specified
- L61T (p.Leu61Thr), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- L61L (p.Leu61Leu), rs1204092656, gnomAD 17-42901059-C-T, CADD 7.05
- L62F (p.Leu62Phe), ExAC rs767487454, gnomAD rs767487454
- L62R (p.Leu62Arg), Ensembl rs2056022955
- W63* (p.Trp63Ter), rs764920787, ClinGen CA274195, ClinVar RCV000169341, ClinVar RCV006263711, CADD 37.00, Pathogenic, in GSD1A
- W63C (p.Trp63Cys), rs764920787, ClinGen CA399651240, ClinVar RCV003143435, Conflicting interpretations, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- W63R (p.Trp63Arg), UniProt VAR 046252, Likely pathogenic, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- V64* (p.Val64Ter), gnomAD 17-42901063-TG-T, CADD 30.00
- V64I (p.Val64Ile), gnomAD 17-42901066-G-A, REVEL 0.46, MetaLR 0.58
- V64A (p.Val64Ala), gnomAD 17-42901067-T-C, REVEL 0.61, MetaLR 0.47
- V64V (p.Val64Val), gnomAD 17-42901068-A-T, CADD 5.68
- A65P (p.Ala65Pro), rs369472089, ClinGen CA399651288, ClinVar RCV000824106, UniProt VAR 046253, AlphaMissense 0.89, MetaLR 0.68, Pathogenic/Likely pathogenic, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- A65S (p.Ala65Ser), rs369472089, ClinGen CA8587500, ClinVar RCV001344123, ClinVar RCV004036419, REVEL 0.60, AlphaMissense 0.89, Conflicting interpretations, not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency
- A65V (p.Ala65Val), gnomAD 17-42901070-C-T, REVEL 0.62, MetaLR 0.55
- A65A (p.Ala65Ala), gnomAD 17-42901071-T-A, CADD 9.77
- I67M (p.Ile67Met), Ensembl rs977760263
- I67T (p.Ile67Thr), gnomAD rs1394189448, REVEL 0.77, CADD 25.70
- I67F (p.Ile67Phe), gnomAD 17-42901075-A-T, REVEL 0.65, MetaLR 0.41
- I67I (p.Ile67Ile), gnomAD 17-42901077-T-C, CADD 10.20
- G68R (p.Gly68Arg), rs1567702819, ClinGen CA399651372, ClinVar RCV002237083, UniProt VAR 046254, AlphaMissense 0.84, MetaLR 0.70, Pathogenic/Likely pathogenic, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- D69Y (p.Asp69Tyr), gnomAD 17-42901081-G-T, REVEL 0.75, MetaLR 0.58
- W70* (p.Trp70Ter), rs1567702823, ClinGen CA399651447, ClinVar RCV001004605, gnomAD rs1567702823, AlphaMissense 0.65, MetaLR 0.59, Pathogenic
- W70R (p.Trp70Arg), ExAC rs766030585, gnomAD rs766030585, REVEL 0.87, CADD 29.10
- W70S (p.Trp70Ser), rs1567702823, ClinGen CA399651450, ClinVar RCV001580705, gnomAD rs1567702823, AlphaMissense 0.65, MetaLR 0.59, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- W70G (p.Trp70Gly), gnomAD 17-42901084-T-G, REVEL 0.85, MetaLR 0.50
- W70C (p.Trp70Cys), gnomAD 17-42901086-G-T, REVEL 0.76, MetaLR 0.67
- L71L (p.Leu71Leu), gnomAD 17-42901089-C-T, CADD 10.40
- N72S (p.Asn72Ser), rs753502076, ClinGen CA8587502, ClinVar RCV002239886, ExAC rs753502076, REVEL 0.68, CADD 26.00, Uncertain significance, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- N72N (p.Asn72Asn), rs2151929168, gnomAD 17-42901092-C-T, CADD 10.10
- L73F (p.Leu73Phe), Ensembl rs2056023207, REVEL 0.61, CADD 24.40
- L73I (p.Leu73Ile), gnomAD 17-42901093-C-A, REVEL 0.65, MetaLR 0.54
- L73L (p.Leu73Leu), rs373545775, gnomAD 17-42901095-C-T, CADD 5.21
- V74I (p.Val74Ile), rs751959283, ClinGen CA8587505, cosmic curated COSV53831, ClinVar RCV001401061, REVEL 0.18, CADD 19.30, Conflicting interpretations, not specified; Glycogen storage disease due to glucose-6-phosphatase deficiency
- V74A (p.Val74Ala), gnomAD 17-42901097-T-C, REVEL 0.74, MetaLR 0.49
- F75V (p.Phe75Val), ExAC rs757628083, gnomAD rs757628083
- F75L (p.Phe75Leu), gnomAD 17-42901099-T-C, REVEL 0.56, MetaLR 0.26
- F75F (p.Phe75Phe), rs781714941, gnomAD 17-42901101-T-C, CADD 10.80
Public G6PC1 analysis runs
- G6PC1 analysis run — G6PC1 (660 variants) — completed 2026-08-19