Sugi Variant

Sugi Variant/SLC37A4

SLC37A4 — 1072 ClinVar variants

All ClinVar germline SLC37A4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 332 flagged for review →

73 Pathogenic · 34 Pathogenic/Likely pathogenic · 65 Likely pathogenic · 31 Conflicting · 25 Benign · 10 Benign/Likely benign · 379 Likely benign · 455 Uncertain significance

Full SLC37A4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 332

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 16

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 247

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 247

Predictors split 68

The independent predictors disagree with each other — read with care.

All SLC37A4 variants

Pathogenic 73

  • c.1124+1G>C Multiple submitters glycogen storage disease Ib
  • c.1124+1G>T Multiple submitters SLC37A4-related disorder
  • c.381+1G>T Multiple submitters glycogen storage disease Ib
  • c.786-3_787del Multiple submitters glycogen storage disease Ib
  • p.Ala309fs Multiple submitters glycogen storage disease Ib
  • p.Arg28Cys Multiple submitters Phosphate transport defect
  • p.Arg28His Multiple submitters glycogen storage disease Ib
  • p.Cys183Arg Multiple submitters congenital disorder of glycosylation, type IIw
  • p.Gln248Ter Multiple submitters glycogen storage disease Ib
  • p.Gln73Ter Multiple submitters glycogen storage disease Ib
  • p.Gly149Glu Multiple submitters SLC37A4-related disorder
  • p.Gly273fs Multiple submitters glycogen storage disease Ib
  • p.Gly339Cys Multiple submitters SLC37A4-related disorder
  • p.Ile154fs Multiple submitters glycogen storage disease Ib
  • p.Leu348fs Multiple submitters SLC37A4-related disorder
  • p.Pro191Leu Multiple submitters SLC37A4-related disorder
  • p.Ser37Ter Multiple submitters glycogen storage disease Ib
  • p.Trp118Arg Multiple submitters glycogen storage disease Ib
  • p.Trp96Ter Multiple submitters glycogen storage disease Ib
  • p.Tyr265Ter Multiple submitters glycogen storage disease Ib
  • p.Tyr60Ter Multiple submitters glycogen storage disease I
  • p.Val313fs Multiple submitters glycogen storage disease Ib
  • c.1124+1G>A Single submitter glycogen storage disease Ib
  • c.148+1G>T Single submitter glycogen storage disease Ib
  • c.149-2A>G Single submitter glycogen storage disease Ib
  • c.381+1G>A Single submitter glycogen storage disease Ib
  • c.381+1G>C Single submitter glycogen storage disease Ib
  • c.871+1G>T Single submitter glycogen storage disease Ib
  • c.871+5G>A Single submitter glycogen storage disease Ib
  • c.872-7_873dup Single submitter glycogen storage disease Ib
  • c.985-1G>C Single submitter glycogen storage disease Ib
  • p.Ala113fs Single submitter glycogen storage disease Ib
  • p.Ala148Val Single submitter glycogen storage disease Ib
  • p.Ala409fs Single submitter glycogen storage disease I
  • p.Arg166fs Single submitter glycogen storage disease Ib
  • p.Arg319_Val320insTer Single submitter glycogen storage disease Ib
  • p.Asn198fs Single submitter glycogen storage disease Ib
  • p.Asn360fs Single submitter glycogen storage disease Ib
  • p.Asp193Ter Single submitter glycogen storage disease Ib
  • p.Cys176_Val177delinsTrp Single submitter glycogen storage disease Ib
  • p.Cys404Ter Single submitter glycogen storage disease Ib
  • p.Gln114Ter Single submitter glycogen storage disease Ib
  • p.Gln4fs Single submitter glycogen storage disease Ib
  • p.Gly238fs Single submitter glycogen storage disease Ib
  • p.Gly310fs Single submitter glycogen storage disease Ib
  • p.Gly350fs Single submitter glycogen storage disease Ib
  • p.Ile346fs Single submitter SLC37A4-related disorder
  • p.Leu141fs Single submitter glycogen storage disease Ib
  • p.Leu199fs Single submitter glycogen storage disease Ib
  • p.Leu229fs Single submitter glycogen storage disease Ib
  • p.Leu251fs Single submitter glycogen storage disease Ib
  • p.Leu260_Val261insTer Single submitter glycogen storage disease Ib
  • p.Met1Val Single submitter glycogen storage disease Ib
  • p.Met266fs Single submitter glycogen storage disease Ib
  • p.Met315fs Single submitter glycogen storage disease Ib
  • p.Phe237fs Single submitter glycogen storage disease Ib
  • p.Phe397fs Single submitter glycogen storage disease Ib
  • p.Phe94fs Single submitter glycogen storage disease Ib
  • p.Ser392fs Single submitter glycogen storage disease Ib
  • p.Thr321fs Single submitter glycogen storage disease Ib
  • p.Thr99fs Single submitter glycogen storage disease Ib
  • p.Trp107Ter Single submitter glycogen storage disease Ib
  • p.Trp137Ter Single submitter glycogen storage disease Ib
  • p.Trp138Ter Single submitter glycogen storage disease Ib
  • p.Trp165Ter Single submitter glycogen storage disease Ib
  • p.Trp227fs Single submitter glycogen storage disease I
  • p.Trp330Ter Single submitter glycogen storage disease Ib
  • p.Trp393Ter Single submitter glycogen storage disease Ib
  • p.Trp78Ter Single submitter glycogen storage disease Ib
  • p.Tyr25Ter Single submitter glycogen storage disease Ib
  • p.Tyr343fs Single submitter glycogen storage disease Ib
  • p.Val124fs Single submitter glycogen storage disease Ib
  • p.Gly209Ser No assertion criteria glycogen storage disease Ib ⚠

Pathogenic/Likely pathogenic 34

  • c.1124+3_1124+6del Multiple submitters glycogen storage disease Ib
  • c.148+1G>A Multiple submitters glycogen storage disease Ib
  • c.148+2T>C Multiple submitters glycogen storage disease Ib
  • c.381+2T>G Multiple submitters glycogen storage disease Ib
  • c.529_533del Multiple submitters glycogen storage disease Ib
  • p.Arg300Cys Multiple submitters glycogen storage disease Ib
  • p.Arg300His Multiple submitters SLC37A4-related disorder
  • p.Arg415Ter Multiple submitters congenital disorder of glycosylation, type IIw
  • p.Arg423Ter Multiple submitters congenital disorder of glycosylation, type IIw
  • p.Asn295fs Multiple submitters glycogen storage disease Ib
  • p.Gln218Ter Multiple submitters glycogen storage disease Ib
  • p.Glu213fs Multiple submitters glycogen storage disease Ib
  • p.Glu355Ter Multiple submitters SLC37A4-related disorder
  • p.Gly150Arg Multiple submitters glycogen storage disease Ib
  • p.Gly20Asp Multiple submitters glycogen storage disease Ib
  • p.Gly339Asp Multiple submitters congenital disorder of glycosylation, type IIw
  • p.Gly68Arg Multiple submitters glycogen storage disease Ib
  • p.Gly83Glu Multiple submitters glycogen storage disease Ib
  • p.Leu116fs Multiple submitters glycogen storage disease Ib
  • p.Lys328fs Multiple submitters glycogen storage disease Ib
  • p.Met1Ile Multiple submitters glycogen storage disease Ib
  • p.Phe134fs Multiple submitters glycogen storage disease Ib
  • p.Phe340fs Multiple submitters glycogen storage disease Ib
  • p.Phe384fs Multiple submitters glycogen storage disease Ib
  • p.Pro153Leu Multiple submitters glycogen storage disease Ib
  • p.Ser162fs Multiple submitters glycogen storage disease Ib
  • p.Ser326fs Multiple submitters glycogen storage disease Ib
  • p.Ser356fs Multiple submitters glycogen storage disease Ib
  • p.Ser57fs Multiple submitters glycogen storage disease Ib
  • p.Ser57Ter Multiple submitters glycogen storage disease Ib
  • p.Thr312fs Multiple submitters glycogen storage disease Ib
  • p.Tyr21fs Multiple submitters glycogen storage disease Ib
  • p.Tyr25fs Multiple submitters glycogen storage disease Ib
  • p.Val66fs Multiple submitters glycogen storage disease Ib

Likely pathogenic 65

  • c.382-1G>T Multiple submitters glycogen storage disease Ib
  • c.786-2A>C Multiple submitters glycogen storage disease Ib
  • c.871+1G>A Multiple submitters glycogen storage disease Ib
  • c.872-1G>A Multiple submitters glycogen storage disease Ib
  • p.Gly122Glu Multiple submitters glycogen storage disease Ib
  • p.Gly50Arg Multiple submitters glycogen storage disease Ib
  • p.His301Pro Multiple submitters glycogen storage disease Ib
  • p.Thr241fs Multiple submitters SLC37A4-related disorder
  • c.1125-1G>A Single submitter glycogen storage disease Ib
  • c.148+2T>A Single submitter glycogen storage disease Ib
  • c.382-2A>G Single submitter glycogen storage disease Ib
  • c.621_626+17del Single submitter glycogen storage disease Ib
  • c.626+1G>T Single submitter glycogen storage disease Ib
  • c.785+2T>G Single submitter glycogen storage disease Ib
  • c.786-1G>A Single submitter glycogen storage disease Ib
  • c.786-2A>G Single submitter glycogen storage disease Ib
  • c.872-2A>C Single submitter glycogen storage disease Ib
  • c.872-8_881del Single submitter glycogen storage disease Ib
  • c.985+1G>A Single submitter glycogen storage disease Ib
  • c.986-1G>A Single submitter glycogen storage disease Ib
  • p.Ala373fs Single submitter glycogen storage disease Ib
  • p.Cys121fs Single submitter glycogen storage disease Ib
  • p.Cys242Ter Single submitter glycogen storage disease Ib
  • p.Gln133Ter Single submitter glycogen storage disease Ib
  • p.Gln248fs Single submitter congenital disorder of glycosylation, type IIw
  • p.Glu205Ter Single submitter
  • p.Glu355fs Single submitter glycogen storage disease Ib
  • p.Glu401fs Single submitter glycogen storage disease Ib
  • p.Gly111Asp Single submitter glycogen storage disease Ib
  • p.Gly115Glu Single submitter glycogen storage disease Ib
  • p.Gly20fs Single submitter glycogen storage disease Ib
  • p.Leu186Pro Single submitter glycogen storage disease Ib
  • p.Leu217fs Single submitter glycogen storage disease Ib
  • p.Leu348Pro Single submitter glycogen storage disease Ib
  • p.Leu361fs Single submitter glycogen storage disease Ib
  • p.Leu49fs Single submitter
  • p.Met1fs Single submitter glycogen storage disease Ib
  • p.Phe80fs Single submitter
  • p.Pro327fs Single submitter Phosphate transport defect
  • p.Ser263Asn Single submitter glycogen storage disease Ib ⚠
  • p.Ser324fs Single submitter glycogen storage disease Ib
  • p.Ser32del Single submitter glycogen storage disease Ib
  • p.Ser55Arg Single submitter glycogen storage disease Ib
  • p.Ser63fs Single submitter glycogen storage disease Ib
  • p.Ser81fs Single submitter SLC37A4-related disorder
  • p.Trp165fs Single submitter glycogen storage disease Ib
  • p.Trp227Ter Single submitter glycogen storage disease Ib
  • p.Trp246Arg Single submitter glycogen storage disease Ib
  • p.Tyr163Ter Single submitter glycogen storage disease Ib
  • p.Tyr225fs Single submitter glycogen storage disease Ib
  • p.Tyr225Ter Single submitter glycogen storage disease Ib
  • p.Tyr282fs Single submitter glycogen storage disease Ib
  • p.Val12fs Single submitter glycogen storage disease Ib
  • p.Val177fs Single submitter glycogen storage disease Ib
  • p.Val178fs Single submitter glycogen storage disease Ib
  • c.382-1del No assertion criteria glycogen storage disease Ib
  • c.986-3_989del No assertion criteria glycogen storage disease Ib
  • p.Ala280Pro No assertion criteria glycogen storage disease Ib
  • p.Asn91fs No assertion criteria glycogen storage disease Ib
  • p.Leu226fs No assertion criteria glycogen storage disease Ib
  • p.Leu269fs No assertion criteria glycogen storage disease Ib
  • p.Leu305fs No assertion criteria glycogen storage disease Ib
  • p.Phe93fs No assertion criteria glycogen storage disease Ib
  • p.Tyr24His No assertion criteria glycogen storage disease Ib
  • p.Val322fs No assertion criteria Phosphate transport defect

Conflicting classifications of pathogenicity 31

Benign 25

Benign/Likely benign 10

  • c.149-14A>G Multiple submitters Phosphate transport defect
  • c.626+14C>T Multiple submitters Phosphate transport defect
  • c.626+16G>A Multiple submitters glycogen storage disease Ib
  • c.626+19C>T Multiple submitters Phosphate transport defect
  • c.985+247C>T Multiple submitters
  • p.Asn198Ile Multiple submitters glycogen storage disease Ib ⚠
  • p.Asn354= Multiple submitters Phosphate transport defect
  • p.Cys176= Multiple submitters glycogen storage disease Ib
  • p.Ser425= Multiple submitters glycogen storage disease Ib
  • p.Thr408= Multiple submitters glycogen storage disease Ib

Likely benign 379

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1125-7_1125-6del Multiple submitters glycogen storage disease Ib
  • c.148+20G>A Multiple submitters congenital disorder of glycosylation, type IIw
  • c.148+332T>C Multiple submitters
  • c.149-265C>T Multiple submitters
  • c.149-7C>T Multiple submitters glycogen storage disease Ib
  • c.381+15A>G Multiple submitters glycogen storage disease Ib
  • c.382-16G>A Multiple submitters glycogen storage disease Ib
  • c.785+6A>T Multiple submitters glycogen storage disease Ib
  • c.871+56G>A Multiple submitters
  • c.872-123G>C Multiple submitters
  • c.986-91C>G Multiple submitters
  • c.986-92T>C Multiple submitters
  • p.Ala192= Multiple submitters glycogen storage disease Ib
  • p.Ala336= Multiple submitters glycogen storage disease Ib
  • p.Ala405= Multiple submitters congenital disorder of glycosylation, type IIw
  • p.Asn189= Multiple submitters Phosphate transport defect
  • p.Asn198= Multiple submitters Inborn genetic diseases
  • p.Gln133= Multiple submitters glycogen storage disease Ib
  • p.Gly302= Multiple submitters glycogen storage disease Ib
  • p.Gly376= Multiple submitters glycogen storage disease Ib
  • p.Gly7= Multiple submitters Inborn genetic diseases
  • p.His366= Multiple submitters glycogen storage disease Ib
  • p.Ile252= Multiple submitters Inborn genetic diseases
  • p.Ile368= Multiple submitters Inborn genetic diseases
  • p.Leu141= Multiple submitters glycogen storage disease Ib
  • p.Leu171= Multiple submitters Inborn genetic diseases
  • p.Leu221= Multiple submitters Inborn genetic diseases
  • p.Leu89= Multiple submitters Inborn genetic diseases
  • p.Pro201= Multiple submitters glycogen storage disease Ib
  • p.Ser180= Multiple submitters Inborn genetic diseases
  • p.Ser210Pro Multiple submitters glycogen storage disease Ib
  • p.Ser324= Multiple submitters glycogen storage disease Ib
  • p.Ser341= Multiple submitters glycogen storage disease Ib
  • p.Ser57= Multiple submitters glycogen storage disease Ib
  • p.Tyr163= Multiple submitters Inborn genetic diseases
  • p.Tyr296= Multiple submitters Phosphate transport defect
  • p.Val313= Multiple submitters glycogen storage disease Ib
  • c.1124+12C>T Single submitter glycogen storage disease Ib
  • c.1124+17A>G Single submitter glycogen storage disease Ib
  • c.1124+18G>C Single submitter glycogen storage disease Ib
  • c.1124+20G>A Single submitter glycogen storage disease Ib
  • c.1124+20G>T Single submitter glycogen storage disease Ib
  • c.1124+7G>A Single submitter glycogen storage disease Ib
  • c.1124+8T>C Single submitter glycogen storage disease Ib
  • c.1125-10C>G Single submitter glycogen storage disease Ib
  • c.1125-10C>T Single submitter glycogen storage disease Ib
  • c.1125-11C>A Single submitter glycogen storage disease Ib
  • c.1125-12T>A Single submitter glycogen storage disease Ib
  • c.1125-14T>C Single submitter glycogen storage disease Ib
  • c.1125-15C>G Single submitter glycogen storage disease Ib
  • c.1125-4A>G Single submitter glycogen storage disease Ib
  • c.1125-6del Single submitter glycogen storage disease Ib
  • c.1125-6T>C Single submitter glycogen storage disease Ib
  • c.1125-6T>G Single submitter glycogen storage disease Ib
  • c.1125-7C>A Single submitter glycogen storage disease Ib
  • c.1125-9C>T Single submitter glycogen storage disease Ib
  • c.148+15A>G Single submitter glycogen storage disease Ib
  • c.148+16G>A Single submitter glycogen storage disease Ib
  • c.148+18A>T Single submitter glycogen storage disease Ib
  • c.148+19G>C Single submitter glycogen storage disease Ib
  • c.148+20G>C Single submitter glycogen storage disease Ib
  • c.148+7_148+8del Single submitter glycogen storage disease Ib
  • c.149-11G>A Single submitter glycogen storage disease Ib
  • c.149-16G>A Single submitter glycogen storage disease Ib
  • c.149-17T>C Single submitter glycogen storage disease Ib
  • c.149-18G>A Single submitter glycogen storage disease Ib
  • c.149-18G>C Single submitter glycogen storage disease Ib
  • c.149-20A>G Single submitter glycogen storage disease Ib
  • c.149-264G>A Single submitter
  • c.149-4G>A Single submitter glycogen storage disease Ib
  • c.149-6del Single submitter glycogen storage disease Ib
  • c.149-8C>G Single submitter glycogen storage disease Ib
  • c.149-9T>C Single submitter glycogen storage disease Ib
  • c.381+11C>T Single submitter glycogen storage disease Ib
  • c.381+18G>T Single submitter glycogen storage disease Ib
  • c.381+8C>T Single submitter glycogen storage disease Ib
  • c.382-10T>C Single submitter glycogen storage disease Ib
  • c.382-13C>T Single submitter glycogen storage disease Ib
  • c.382-17C>T Single submitter glycogen storage disease Ib
  • c.382-20T>G Single submitter glycogen storage disease Ib
  • c.382-4A>C Single submitter glycogen storage disease Ib
  • c.382-5C>T Single submitter glycogen storage disease Ib
  • c.382-7C>T Single submitter glycogen storage disease Ib
  • c.382-8C>T Single submitter glycogen storage disease Ib
  • c.382-9G>C Single submitter glycogen storage disease Ib
  • c.626+10C>A Single submitter glycogen storage disease Ib
  • c.626+10C>G Single submitter glycogen storage disease Ib
  • c.626+10C>T Single submitter glycogen storage disease Ib
  • c.626+11A>T Single submitter glycogen storage disease Ib
  • c.626+12C>T Single submitter glycogen storage disease Ib
  • c.626+13C>T Single submitter glycogen storage disease Ib
  • c.626+15A>G Single submitter glycogen storage disease Ib
  • c.626+16G>C Single submitter glycogen storage disease Ib
  • c.626+20G>A Single submitter glycogen storage disease Ib
  • c.626+7C>T Single submitter glycogen storage disease Ib
  • c.626+8C>T Single submitter glycogen storage disease Ib
  • c.626+9C>T Single submitter glycogen storage disease Ib
  • c.627-11C>T Single submitter glycogen storage disease Ib
  • c.627-16C>T Single submitter glycogen storage disease Ib
  • c.627-20C>T Single submitter glycogen storage disease Ib
  • c.627-6C>T Single submitter glycogen storage disease Ib
  • c.627-7C>T Single submitter glycogen storage disease Ib
  • c.627-8A>G Single submitter glycogen storage disease Ib
  • c.627-9C>T Single submitter glycogen storage disease Ib
  • c.785+10G>A Single submitter glycogen storage disease Ib
  • c.785+12A>G Single submitter glycogen storage disease Ib
  • c.785+13T>C Single submitter glycogen storage disease Ib
  • c.785+15G>A Single submitter glycogen storage disease Ib
  • c.785+16G>A Single submitter glycogen storage disease Ib
  • c.785+19C>G Single submitter glycogen storage disease Ib
  • c.785+8G>A Single submitter glycogen storage disease Ib
  • c.786-10C>T Single submitter glycogen storage disease Ib
  • c.786-17A>G Single submitter glycogen storage disease Ib
  • c.786-18_786-16del Single submitter glycogen storage disease Ib
  • c.786-22_786-13del Single submitter glycogen storage disease Ib
  • c.786-6C>T Single submitter glycogen storage disease Ib
  • c.871+15G>A Single submitter glycogen storage disease Ib
  • c.871+17G>A Single submitter glycogen storage disease Ib
  • c.871+17G>T Single submitter glycogen storage disease Ib
  • c.871+19C>G Single submitter glycogen storage disease Ib
  • c.871+19C>T Single submitter glycogen storage disease Ib
  • c.871+7G>A Single submitter glycogen storage disease Ib
  • c.871+7G>C Single submitter glycogen storage disease Ib
  • c.871+8G>C Single submitter glycogen storage disease Ib
  • c.872-10G>A Single submitter glycogen storage disease Ib
  • c.872-11T>C Single submitter glycogen storage disease Ib
  • c.872-15_872-9dup Single submitter glycogen storage disease Ib
  • c.872-16G>A Single submitter glycogen storage disease Ib
  • c.872-17C>G Single submitter glycogen storage disease Ib
  • c.872-17C>T Single submitter glycogen storage disease Ib
  • c.872-18C>T Single submitter glycogen storage disease Ib
  • c.872-21T>C Single submitter
  • c.872-4A>C Single submitter glycogen storage disease Ib
  • c.872-4A>G Single submitter glycogen storage disease Ib
  • c.872-6C>G Single submitter glycogen storage disease Ib
  • c.872-8A>G Single submitter glycogen storage disease Ib
  • c.985+10A>G Single submitter glycogen storage disease Ib
  • c.985+15C>G Single submitter glycogen storage disease Ib
  • c.985+18G>A Single submitter glycogen storage disease Ib
  • c.985+20C>T Single submitter glycogen storage disease Ib
  • c.985+289A>C Single submitter
  • c.985+9G>C Single submitter glycogen storage disease Ib
  • c.986-11G>A Single submitter glycogen storage disease Ib
  • c.986-13C>A Single submitter glycogen storage disease Ib
  • c.986-15C>T Single submitter glycogen storage disease Ib
  • c.986-18C>T Single submitter glycogen storage disease Ib
  • c.986-4G>A Single submitter glycogen storage disease Ib
  • c.986-8C>T Single submitter glycogen storage disease Ib
  • c.-196+14C>T Single submitter
  • c.-42G>C Single submitter glycogen storage disease I
  • c.-699-7C>G Single submitter
  • c.-700+10G>T Single submitter
  • c.*11G>A Single submitter glycogen storage disease Ib
  • p.Ala104= Single submitter glycogen storage disease Ib
  • p.Ala139= Single submitter glycogen storage disease Ib
  • p.Ala156= Single submitter glycogen storage disease Ib
  • p.Ala174= Single submitter glycogen storage disease Ib
  • p.Ala259= Single submitter glycogen storage disease Ib
  • p.Ala268= Single submitter glycogen storage disease Ib
  • p.Ala287= Single submitter glycogen storage disease Ib
  • p.Ala291= Single submitter glycogen storage disease Ib
  • p.Ala357= Single submitter glycogen storage disease Ib
  • p.Ala367= Single submitter glycogen storage disease Ib
  • p.Ala373= Single submitter Inborn genetic diseases
  • p.Ala410= Single submitter glycogen storage disease Ib
  • p.Ala428= Single submitter glycogen storage disease Ib
  • p.Ala58= Single submitter glycogen storage disease Ib
  • p.Ala95= Single submitter glycogen storage disease Ib
  • p.Arg166= Single submitter
  • p.Arg197= Single submitter glycogen storage disease Ib
  • p.Arg286= Single submitter Inborn genetic diseases
  • p.Arg300= Single submitter glycogen storage disease Ib
  • p.Arg319= Single submitter Inborn genetic diseases
  • p.Arg77= Single submitter glycogen storage disease Ib
  • p.Asn110= Single submitter glycogen storage disease Ib
  • p.Asn298= Single submitter glycogen storage disease Ib
  • p.Asn416= Single submitter glycogen storage disease Ib
  • p.Asp45= Single submitter glycogen storage disease Ib
  • p.Asp47= Single submitter glycogen storage disease Ib
  • p.Gln161= Single submitter glycogen storage disease Ib
  • p.Glu130= Single submitter glycogen storage disease Ib
  • p.Glu213= Single submitter glycogen storage disease Ib
  • p.Glu254= Single submitter glycogen storage disease Ib
  • p.Glu429= Single submitter glycogen storage disease Ib
  • p.Gly115= Single submitter glycogen storage disease Ib
  • p.Gly117= Single submitter glycogen storage disease Ib
  • p.Gly122= Single submitter glycogen storage disease Ib
  • p.Gly135= Single submitter glycogen storage disease Ib
  • p.Gly149= Single submitter glycogen storage disease Ib
  • p.Gly150= Single submitter glycogen storage disease Ib
  • p.Gly152= Single submitter glycogen storage disease Ib
  • p.Gly173= Single submitter glycogen storage disease Ib
  • p.Gly19= Single submitter glycogen storage disease Ib
  • p.Gly20= Single submitter glycogen storage disease Ib
  • p.Gly209= Single submitter glycogen storage disease Ib
  • p.Gly262= Single submitter glycogen storage disease Ib
  • p.Gly273= Single submitter glycogen storage disease Ib
  • p.Gly297= Single submitter glycogen storage disease Ib
  • p.Gly363= Single submitter glycogen storage disease Ib
  • p.Gly381= Single submitter Inborn genetic diseases
  • p.Gly5= Single submitter glycogen storage disease Ib
  • p.Gly50= Single submitter glycogen storage disease Ib
  • p.His390= Single submitter glycogen storage disease Ib
  • p.Ile140= Single submitter glycogen storage disease Ib
  • p.Ile154= Single submitter glycogen storage disease Ib
  • p.Ile278= Single submitter glycogen storage disease Ib
  • p.Ile346= Single submitter glycogen storage disease Ib
  • p.Ile403= Single submitter glycogen storage disease Ib
  • p.Ile52= Single submitter glycogen storage disease Ib
  • p.Ile62= Single submitter glycogen storage disease Ib
  • p.Leu106= Single submitter glycogen storage disease Ib
  • p.Leu112= Single submitter glycogen storage disease Ib
  • p.Leu116= Single submitter glycogen storage disease Ib
  • p.Leu125= Single submitter glycogen storage disease Ib
  • p.Leu155= Single submitter glycogen storage disease Ib
  • p.Leu169= Single submitter glycogen storage disease Ib
  • p.Leu175= Single submitter glycogen storage disease Ib
  • p.Leu184= Single submitter glycogen storage disease Ib
  • p.Leu185= Single submitter glycogen storage disease Ib
  • p.Leu186= Single submitter glycogen storage disease Ib
  • p.Leu196= Single submitter glycogen storage disease Ib
  • p.Leu199= Single submitter glycogen storage disease Ib
  • p.Leu211= Single submitter glycogen storage disease Ib
  • p.Leu222= Single submitter glycogen storage disease Ib
  • p.Leu23= Single submitter glycogen storage disease Ib
  • p.Leu234= Single submitter glycogen storage disease Ib
  • p.Leu283= Single submitter glycogen storage disease Ib
  • p.Leu293= Single submitter glycogen storage disease Ib
  • p.Leu303= Single submitter glycogen storage disease Ib
  • p.Leu334= Single submitter glycogen storage disease Ib
  • p.Leu361= Single submitter glycogen storage disease Ib
  • p.Leu371= Single submitter glycogen storage disease Ib
  • p.Leu379= Single submitter glycogen storage disease Ib
  • p.Leu38= Single submitter glycogen storage disease Ib
  • p.Leu414= Single submitter glycogen storage disease Ib
  • p.Leu70= Single submitter glycogen storage disease Ib
  • p.Leu79= Single submitter glycogen storage disease Ib
  • p.Leu84= Single submitter glycogen storage disease Ib
  • p.Leu85= Single submitter glycogen storage disease Ib
  • p.Leu86= Single submitter glycogen storage disease Ib
  • p.Lys123= Single submitter glycogen storage disease Ib
  • p.Lys29= Single submitter glycogen storage disease Ib
  • p.Lys389= Single submitter glycogen storage disease Ib
  • p.Lys46= Single submitter glycogen storage disease Ib
  • p.Phe18= Single submitter glycogen storage disease Ib
  • p.Phe181= Single submitter glycogen storage disease Ib
  • p.Phe26= Single submitter glycogen storage disease Ib
  • p.Phe31= Single submitter glycogen storage disease Ib
  • p.Phe349= Single submitter glycogen storage disease Ib
  • p.Phe378= Single submitter glycogen storage disease Ib
  • p.Phe384= Single submitter glycogen storage disease Ib
  • p.Phe412= Single submitter glycogen storage disease Ib
  • p.Phe51= Single submitter glycogen storage disease Ib
  • p.Phe65= Single submitter glycogen storage disease Ib
  • p.Phe80= Single submitter glycogen storage disease Ib
  • p.Pro101= Single submitter glycogen storage disease Ib
  • p.Pro119= Single submitter glycogen storage disease Ib
  • p.Pro358= Single submitter glycogen storage disease Ib
  • p.Pro359= Single submitter glycogen storage disease Ib
  • p.Pro383= Single submitter glycogen storage disease Ib
  • p.Ser204Phe Single submitter glycogen storage disease Ib
  • p.Ser215= Single submitter glycogen storage disease Ib
  • p.Ser22= Single submitter glycogen storage disease Ib
  • p.Ser223= Single submitter glycogen storage disease Ib
  • p.Ser230= Single submitter glycogen storage disease Ib
  • p.Ser258= Single submitter glycogen storage disease Ib
  • p.Ser264= Single submitter glycogen storage disease Ib
  • p.Ser277= Single submitter glycogen storage disease Ib
  • p.Ser284= Single submitter glycogen storage disease Ib
  • p.Ser314= Single submitter glycogen storage disease Ib
  • p.Ser342= Single submitter glycogen storage disease Ib
  • p.Ser356= Single submitter glycogen storage disease Ib
  • p.Ser365= Single submitter glycogen storage disease Ib
  • p.Ser37= Single submitter glycogen storage disease Ib
  • p.Ser385= Single submitter glycogen storage disease Ib
  • p.Ser392= Single submitter glycogen storage disease Ib
  • p.Ser407= Single submitter glycogen storage disease Ib
  • p.Ser55= Single submitter glycogen storage disease Ib
  • p.Ser67= Single submitter glycogen storage disease Ib
  • p.Ser81= Single submitter glycogen storage disease Ib
  • p.Ser97= Single submitter glycogen storage disease Ib
  • p.Ser98= Single submitter glycogen storage disease Ib
  • p.Ter430= Single submitter glycogen storage disease Ib
  • p.Thr143= Single submitter glycogen storage disease Ib
  • p.Thr168= Single submitter glycogen storage disease Ib
  • p.Thr216= Single submitter glycogen storage disease Ib
  • p.Thr241= Single submitter glycogen storage disease Ib
  • p.Thr321= Single submitter glycogen storage disease Ib
  • p.Thr364= Single submitter glycogen storage disease Ib
  • p.Thr386= Single submitter glycogen storage disease Ib
  • p.Thr419= Single submitter glycogen storage disease Ib
  • p.Thr53= Single submitter glycogen storage disease Ib
  • p.Tyr21= Single submitter glycogen storage disease Ib
  • p.Tyr225= Single submitter glycogen storage disease Ib
  • p.Tyr233= Single submitter glycogen storage disease Ib
  • p.Tyr265= Single submitter glycogen storage disease Ib
  • p.Tyr282= Single submitter glycogen storage disease Ib
  • p.Tyr316= Single submitter glycogen storage disease Ib
  • p.Tyr391= Single submitter glycogen storage disease Ib
  • p.Tyr60= Single submitter glycogen storage disease Ib

Uncertain significance 455

Showing the top 300 by review status; the full set is in the sitemap.