Sugi Variant

Sugi Variant/RFT1

RFT1 — 560 ClinVar variants

All ClinVar germline RFT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 176 flagged for review →

5 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 20 Conflicting · 57 Benign · 5 Benign/Likely benign · 190 Likely benign · 273 Uncertain significance

Full RFT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 176

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 9

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

Predictors lean, ClinVar uncertain 123

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 43

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

All RFT1 variants

Pathogenic 5

  • p.Gly259Ser Single submitter RFT1-congenital disorder of glycosylation
  • p.Glu298Lys No assertion criteria RFT1-congenital disorder of glycosylation
  • p.Ile296Arg No assertion criteria RFT1-congenital disorder of glycosylation
  • p.Ile296Lys No assertion criteria RFT1-congenital disorder of glycosylation
  • p.Met408Val No assertion criteria RFT1-congenital disorder of glycosylation

Pathogenic/Likely pathogenic 2

  • p.Arg67Cys Multiple submitters RFT1-congenital disorder of glycosylation
  • p.Lys152Glu Multiple submitters RFT1-congenital disorder of glycosylation

Likely pathogenic 8

  • p.Arg442Gln Multiple submitters RFT1-congenital disorder of glycosylation
  • p.Glu399Ter Multiple submitters RFT1-congenital disorder of glycosylation
  • c.1208+1G>T Single submitter RFT1-congenital disorder of glycosylation
  • c.775+1G>A Single submitter
  • p.Arg77Ter Single submitter RFT1-congenital disorder of glycosylation
  • p.Phe182fs Single submitter
  • p.Tyr301Cys Single submitter RFT1-congenital disorder of glycosylation ⚠
  • c.775+1G>C No assertion criteria RFT1-congenital disorder of glycosylation

Conflicting classifications of pathogenicity 20

  • c.1208+15A>G Single submitter RFT1-congenital disorder of glycosylation
  • c.826+7T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.827-14T>C Single submitter RFT1-congenital disorder of glycosylation
  • p.Ala326= Single submitter RFT1-congenital disorder of glycosylation
  • p.Arg452= Single submitter RFT1-congenital disorder of glycosylation
  • p.Arg67= Single submitter RFT1-congenital disorder of glycosylation
  • p.Arg67His Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Asn385Ser Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Asp274Gly Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Cys448= Single submitter RFT1-congenital disorder of glycosylation
  • p.Cys70Arg Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Glu400fs Single submitter RFT1-congenital disorder of glycosylation
  • p.Gly101= Single submitter RFT1-congenital disorder of glycosylation
  • p.His146Tyr Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.His466Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu128Phe Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Leu174= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ser16Cys Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Val277= Single submitter RFT1-congenital disorder of glycosylation
  • p.Val46Ile Single submitter RFT1-congenital disorder of glycosylation ⚠

Benign 57

Benign/Likely benign 5

  • c.1208+19A>G Multiple submitters RFT1-congenital disorder of glycosylation
  • c.64-14C>T Multiple submitters RFT1-congenital disorder of glycosylation
  • p.Leu308= Multiple submitters RFT1-congenital disorder of glycosylation
  • p.Thr211Ile Multiple submitters RFT1-congenital disorder of glycosylation
  • p.Val165Ile Multiple submitters Inborn genetic diseases

Likely benign 190

  • c.1209-6C>T Multiple submitters RFT1-congenital disorder of glycosylation
  • c.1458+18A>T Multiple submitters RFT1-congenital disorder of glycosylation
  • c.149+16C>T Multiple submitters RFT1-congenital disorder of glycosylation
  • c.149+17C>G Multiple submitters RFT1-congenital disorder of glycosylation
  • c.957+45A>G Multiple submitters
  • p.Ala336= Multiple submitters RFT1-congenital disorder of glycosylation
  • p.Arg536Cys Multiple submitters Inborn genetic diseases
  • p.Glu520= Multiple submitters RFT1-congenital disorder of glycosylation
  • p.Leu467Arg Multiple submitters Inborn genetic diseases
  • p.Ser219= Multiple submitters RFT1-congenital disorder of glycosylation
  • c.1102+15T>A Single submitter RFT1-congenital disorder of glycosylation
  • c.1102+17T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.1102+8C>A Single submitter RFT1-congenital disorder of glycosylation
  • c.1103-14T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.1103-5T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.1103-6T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.1103-8C>A Single submitter RFT1-congenital disorder of glycosylation
  • c.1103-9T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.1208+10_1208+15del Single submitter RFT1-congenital disorder of glycosylation
  • c.1208+11T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.1208+17G>C Single submitter RFT1-congenital disorder of glycosylation
  • c.1208+20C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.1208+7A>G Single submitter RFT1-congenital disorder of glycosylation
  • c.1209-16C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.1209-18T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.1209-4C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.1458+15G>C Single submitter RFT1-congenital disorder of glycosylation
  • c.1458+16C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.1459-14G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.1459-14G>T Single submitter RFT1-congenital disorder of glycosylation
  • c.1459-17A>G Single submitter RFT1-congenital disorder of glycosylation
  • c.1459-5C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.149+10G>T Single submitter RFT1-congenital disorder of glycosylation
  • c.149+13G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.149+16C>G Single submitter RFT1-congenital disorder of glycosylation
  • c.150-14C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.150-17C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.150-18del Single submitter RFT1-congenital disorder of glycosylation
  • c.150-224C>T Single submitter
  • c.150-7T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.150-8A>G Single submitter RFT1-congenital disorder of glycosylation
  • c.266+10G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.266+13T>A Single submitter RFT1-congenital disorder of glycosylation
  • c.266+16G>T Single submitter RFT1-congenital disorder of glycosylation
  • c.266+20G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.267-16T>A Single submitter RFT1-congenital disorder of glycosylation
  • c.267-4C>G Single submitter RFT1-congenital disorder of glycosylation
  • c.267-4C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.267-5T>A Single submitter RFT1-congenital disorder of glycosylation
  • c.267-9C>G Single submitter RFT1-congenital disorder of glycosylation
  • c.457-10_457-9del Single submitter RFT1-congenital disorder of glycosylation
  • c.457-19C>G Single submitter RFT1-congenital disorder of glycosylation
  • c.558+10A>G Single submitter RFT1-congenital disorder of glycosylation
  • c.558+10A>T Single submitter RFT1-congenital disorder of glycosylation
  • c.559-14del Single submitter RFT1-congenital disorder of glycosylation
  • c.559-15T>G Single submitter RFT1-congenital disorder of glycosylation
  • c.559-20C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.559-6T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.64-16T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.696+221_696+222dup Single submitter
  • c.697-11_697-10dup Single submitter RFT1-congenital disorder of glycosylation
  • c.697-13T>G Single submitter RFT1-congenital disorder of glycosylation
  • c.697-24GTTTT[2] Single submitter RFT1-congenital disorder of glycosylation
  • c.697-24GTTTT[4] Single submitter RFT1-congenital disorder of glycosylation
  • c.697-7_697-3del Single submitter RFT1-congenital disorder of glycosylation
  • c.775+20G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.775+20G>C Single submitter RFT1-congenital disorder of glycosylation
  • c.775+9A>C Single submitter RFT1-congenital disorder of glycosylation
  • c.776-10T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.776-13T>G Single submitter RFT1-congenital disorder of glycosylation
  • c.776-16G>T Single submitter RFT1-congenital disorder of glycosylation
  • c.776-20T>G Single submitter RFT1-congenital disorder of glycosylation
  • c.776-5T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.826+14C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.826+16G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.826+7T>G Single submitter RFT1-congenital disorder of glycosylation
  • c.827-10T>G Single submitter RFT1-congenital disorder of glycosylation
  • c.827-3dup Single submitter RFT1-congenital disorder of glycosylation
  • c.827-4G>T Single submitter
  • c.827-9del Single submitter
  • c.827-9G>T Single submitter
  • c.958-13_958-9del Single submitter RFT1-congenital disorder of glycosylation
  • c.958-17C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.958-19C>G Single submitter RFT1-congenital disorder of glycosylation
  • c.958-290del Single submitter
  • c.958-5C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.958-7G>C Single submitter RFT1-congenital disorder of glycosylation
  • c.958-9T>G Single submitter RFT1-congenital disorder of glycosylation
  • c.*240T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.*799T>A Single submitter RFT1-congenital disorder of glycosylation
  • p.Ala11= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ala130= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ala185= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ala233= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ala323= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ala339= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ala476= Single submitter RFT1-congenital disorder of glycosylation
  • p.Arg12= Single submitter RFT1-congenital disorder of glycosylation
  • p.Arg373His Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Arg442= Single submitter RFT1-congenital disorder of glycosylation
  • p.Arg536= Single submitter RFT1-congenital disorder of glycosylation
  • p.Asn283= Single submitter RFT1-congenital disorder of glycosylation
  • p.Asn438= Single submitter RFT1-congenital disorder of glycosylation
  • p.Asn48= Single submitter RFT1-congenital disorder of glycosylation
  • p.Cys70= Single submitter RFT1-congenital disorder of glycosylation
  • p.Gln214= Single submitter RFT1-congenital disorder of glycosylation
  • p.Gln254= Single submitter RFT1-congenital disorder of glycosylation
  • p.Gln493= Single submitter RFT1-congenital disorder of glycosylation
  • p.Gln493Arg Single submitter Inborn genetic diseases
  • p.Glu389= Single submitter RFT1-congenital disorder of glycosylation
  • p.Glu399= Single submitter RFT1-congenital disorder of glycosylation
  • p.Glu492= Single submitter RFT1-congenital disorder of glycosylation
  • p.Gly259= Single submitter RFT1-congenital disorder of glycosylation
  • p.Gly340= Single submitter RFT1-congenital disorder of glycosylation
  • p.Gly45= Single submitter RFT1-congenital disorder of glycosylation
  • p.Gly505= Single submitter RFT1-congenital disorder of glycosylation
  • p.His459= Single submitter RFT1-congenital disorder of glycosylation
  • p.His466= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ile357= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ile43= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu108= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu125= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu128= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu135= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu166= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu170= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu172= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu193= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu195= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu20= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu205= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu225= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu26Val Single submitter Inborn genetic diseases
  • p.Leu270= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu329= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu335= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu337= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu381= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu39= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu447= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu462= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu467= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu472= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu51= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu527= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu54= Single submitter
  • p.Leu59= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu61= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu71= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu83= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu85= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu86= Single submitter
  • p.Leu88= Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu92= Single submitter RFT1-congenital disorder of glycosylation
  • p.Lys248= Single submitter RFT1-congenital disorder of glycosylation
  • p.Lys318= Single submitter RFT1-congenital disorder of glycosylation
  • p.Phe246= Single submitter RFT1-congenital disorder of glycosylation
  • p.Phe38= Single submitter RFT1-congenital disorder of glycosylation
  • p.Phe393= Single submitter
  • p.Phe95= Single submitter RFT1-congenital disorder of glycosylation
  • p.Pro117= Single submitter RFT1-congenital disorder of glycosylation
  • p.Pro461= Single submitter RFT1-congenital disorder of glycosylation
  • p.Pro469= Single submitter RFT1-congenital disorder of glycosylation
  • p.Pro91= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ser129= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ser159= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ser164= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ser365= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ser428= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ser468= Single submitter RFT1-congenital disorder of glycosylation
  • p.Thr167= Single submitter RFT1-congenital disorder of glycosylation
  • p.Thr191= Single submitter RFT1-congenital disorder of glycosylation
  • p.Thr315= Single submitter RFT1-congenital disorder of glycosylation
  • p.Thr344= Single submitter RFT1-congenital disorder of glycosylation
  • p.Thr423= Single submitter RFT1-congenital disorder of glycosylation
  • p.Thr444= Single submitter RFT1-congenital disorder of glycosylation
  • p.Thr474= Single submitter RFT1-congenital disorder of glycosylation
  • p.Thr52= Single submitter RFT1-congenital disorder of glycosylation
  • p.Thr89Ile Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Tyr262= Single submitter RFT1-congenital disorder of glycosylation
  • p.Tyr278= Single submitter RFT1-congenital disorder of glycosylation
  • p.Tyr358= Single submitter RFT1-congenital disorder of glycosylation
  • p.Tyr453= Single submitter RFT1-congenital disorder of glycosylation
  • p.Tyr55= Single submitter RFT1-congenital disorder of glycosylation
  • p.Val115= Single submitter RFT1-congenital disorder of glycosylation
  • p.Val22= Single submitter RFT1-congenital disorder of glycosylation
  • p.Val401= Single submitter RFT1-congenital disorder of glycosylation
  • p.Val44= Single submitter RFT1-congenital disorder of glycosylation
  • p.Val46= Single submitter RFT1-congenital disorder of glycosylation
  • p.Val533= Single submitter RFT1-congenital disorder of glycosylation

Uncertain significance 273

  • c.558+6A>T Multiple submitters RFT1-congenital disorder of glycosylation
  • c.827-6T>G Multiple submitters RFT1-congenital disorder of glycosylation
  • c.*184G>C Multiple submitters RFT1-congenital disorder of glycosylation
  • p.Ala233Val Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Ala323Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ala395Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala463Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala483Ser Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Arg25Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg25Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg261Gly Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Arg373Cys Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Arg37Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg37His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg424Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg424His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg442Trp Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Arg452His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg77Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Asn405Ser Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Cys390Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Gln21= Multiple submitters RFT1-congenital disorder of glycosylation
  • p.Gln530His Multiple submitters Inborn genetic diseases ⚠
  • p.Glu260Lys Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Glu520Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly340Ser Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Gly359Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly494Ser Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Gly510Glu Multiple submitters Inborn genetic diseases
  • p.His459Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His459Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile280Met Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Ile302Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile35Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile450Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu205Arg Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Leu267Phe Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Leu355Val Multiple submitters Inborn genetic diseases ⚠
  • p.Lys41Glu Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Met396Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Met439Val Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Pro217Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser367= Multiple submitters RFT1-congenital disorder of glycosylation
  • p.Ser428Asn Multiple submitters Inborn genetic diseases
  • p.Ser478Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Thr243Ile Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Thr392Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr444Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr519Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr52Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr75Ile Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Trp237Ter Multiple submitters RFT1-congenital disorder of glycosylation
  • p.Trp244Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr189Cys Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Tyr197Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr350Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr378Cys Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Val171Met Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • p.Val379Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val429Ala Multiple submitters RFT1-congenital disorder of glycosylation ⚠
  • c.1102+4C>A Single submitter RFT1-congenital disorder of glycosylation
  • c.1102+4C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.1102+5G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.1208+3G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.1458+5G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.1459-22T>G Single submitter RFT1-congenital disorder of glycosylation
  • c.1459-2A>G Single submitter RFT1-congenital disorder of glycosylation
  • c.149+5G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.150-1G>C Single submitter RFT1-congenital disorder of glycosylation
  • c.266+1G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.267-3T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.456+3C>G Single submitter RFT1-congenital disorder of glycosylation
  • c.559-13dup Single submitter RFT1-congenital disorder of glycosylation
  • c.63+3A>G Single submitter RFT1-congenital disorder of glycosylation
  • c.63+4C>G Single submitter RFT1-congenital disorder of glycosylation
  • c.64-3T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.696+11C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.696+5_696+8del Single submitter RFT1-congenital disorder of glycosylation
  • c.775+3A>G Single submitter RFT1-congenital disorder of glycosylation
  • c.957+1G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.-16G>T Single submitter RFT1-congenital disorder of glycosylation
  • c.-1T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.*1117G>C Single submitter RFT1-congenital disorder of glycosylation
  • c.*1124T>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*116C>G Single submitter RFT1-congenital disorder of glycosylation
  • c.*1271A>C Single submitter RFT1-congenital disorder of glycosylation
  • c.*127G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*153C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*1693G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*1693G>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*182G>C Single submitter RFT1-congenital disorder of glycosylation
  • c.*1900C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*1901G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*2052A>G Single submitter RFT1-congenital disorder of glycosylation
  • c.*2076C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*2161C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*2165T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.*2187A>G Single submitter RFT1-congenital disorder of glycosylation
  • c.*2214C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*2215G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*2255A>C Single submitter RFT1-congenital disorder of glycosylation
  • c.*2280T>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*2350C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*2366T>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*2427G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*2428G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*242T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.*2453T>C Single submitter RFT1-congenital disorder of glycosylation
  • c.*2457A>G Single submitter RFT1-congenital disorder of glycosylation
  • c.*2706C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*2787G>C Single submitter RFT1-congenital disorder of glycosylation
  • c.*2789C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*2790G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*2820G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*295C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*2991C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*2992G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*2995C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*2996G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*2997C>G Single submitter RFT1-congenital disorder of glycosylation
  • c.*3068A>C Single submitter RFT1-congenital disorder of glycosylation
  • c.*3093C>G Single submitter RFT1-congenital disorder of glycosylation
  • c.*3093C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*3191A>G Single submitter RFT1-congenital disorder of glycosylation
  • c.*3286C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*3348A>G Single submitter RFT1-congenital disorder of glycosylation
  • c.*405G>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*423G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*441C>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*609C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*645C>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*649G>A Single submitter RFT1-congenital disorder of glycosylation
  • c.*84A>T Single submitter RFT1-congenital disorder of glycosylation
  • c.*861A>G Single submitter RFT1-congenital disorder of glycosylation
  • c.*880C>G Single submitter RFT1-congenital disorder of glycosylation
  • c.*968A>G Single submitter RFT1-congenital disorder of glycosylation
  • c.*972A>G Single submitter RFT1-congenital disorder of glycosylation
  • p.Ala155= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ala155Gly Single submitter ⚠
  • p.Ala155Thr Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ala325Thr Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ala327Thr Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ala434Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala463Ser Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ala476Pro Single submitter Inborn genetic diseases
  • p.Ala483fs Single submitter RFT1-congenital disorder of glycosylation
  • p.Ala506Thr Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ala516Ser Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ala65Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala65Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg12Gly Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Arg12Trp Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Arg220Gly Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Arg452Cys Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Arg455Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg50Ter Single submitter RFT1-congenital disorder of glycosylation
  • p.Arg528Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg536His Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Asn271Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn435Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp112Ala Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Asp356Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp402Asn Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Asp402Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln186His Single submitter RFT1-congenital disorder of glycosylation
  • p.Gln254Ter Single submitter RFT1-congenital disorder of glycosylation
  • p.Gln319His Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Glu109Ala Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Glu330Gln Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Gly178Glu Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Gly17Ser Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Gly232Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly360= Single submitter RFT1-congenital disorder of glycosylation
  • p.Gly366Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly368Ser Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Gly386Arg Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Gly430Asp Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Gly440Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly440Val Single submitter Inborn genetic diseases ⚠
  • p.Gly45Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly464Asp Single submitter RFT1-congenital disorder of glycosylation
  • p.Gly473Arg Single submitter RFT1-congenital disorder of glycosylation
  • p.Gly494Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly494Cys Single submitter Inborn genetic diseases ⚠
  • p.Gly514Arg Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Gly532Val Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ile181Val Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ile221fs Single submitter RFT1-congenital disorder of glycosylation
  • p.Ile27Met Single submitter Inborn genetic diseases ⚠
  • p.Ile280Thr Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ile296Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile296Val Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ile302fs Single submitter RFT1-congenital disorder of glycosylation
  • p.Ile357Met Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ile432Val Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ile524Phe Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Leu125Pro Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Leu151_Lys152dup Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu158Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu193Val Single submitter Inborn genetic diseases ⚠
  • p.Leu19Arg Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Leu216Phe Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Leu225Ile Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Leu284Val Single submitter Inborn genetic diseases ⚠
  • p.Leu316Phe Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Leu333Phe Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Leu335Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu380Val Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Leu409Pro Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Leu411fs Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu421Val Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Leu467fs Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu472Phe Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu61Pro Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Leu92fs Single submitter RFT1-congenital disorder of glycosylation
  • p.Leu98Ile Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Lys152Asn Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Lys212Glu Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Lys248fs Single submitter RFT1-congenital disorder of glycosylation
  • p.Met362Thr Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Met396Val Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Met439Thr Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Phe126Ser Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Phe475Cys Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Phe507Leu Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Pro113Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro138Thr Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Pro208Leu Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Pro226Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro295Leu Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Pro461Thr Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Pro91Leu Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Pro91Ser Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ser129Leu Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ser164Gly Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ser207Cys Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ser351Cys Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ser367Tyr Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ser3Gly Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ser414del Single submitter RFT1-congenital disorder of glycosylation
  • p.Ser485= Single submitter RFT1-congenital disorder of glycosylation
  • p.Ser485Leu Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ser80Arg Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Thr211Ala Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Thr222Ile Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Thr388Ile Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Thr388Ser Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Thr52Lys Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Thr52Pro Single submitter RFT1-congenital disorder of glycosylation
  • p.Thr58Asn Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Thr58Ile Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Trp173Cys Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Trp173Ter Single submitter RFT1-congenital disorder of glycosylation
  • p.Trp495Cys Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Tyr358Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr375Cys Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Tyr453Cys Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Val115Ile Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Val116del Single submitter RFT1-congenital disorder of glycosylation
  • p.Val123Ala Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Val141Phe Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Val171Leu Single submitter RFT1-congenital disorder of glycosylation
  • p.Val22Met Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Val263Met Single submitter Inborn genetic diseases ⚠
  • p.Val322Ile Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Val429Met Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Val44Ala Single submitter RFT1-congenital disorder of glycosylation
  • p.Val49Ile Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Val504Leu Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Val533Ala Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Val533Leu Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Val94Met Single submitter RFT1-congenital disorder of glycosylation ⚠
  • p.Ser250Phe No assertion criteria RFT1-congenital disorder of glycosylation ⚠