SNX27 — 417 ClinVar variants
All ClinVar germline SNX27 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 145 flagged for review →
17 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 2 Conflicting · 13 Benign · 2 Benign/Likely benign · 212 Likely benign · 166 Uncertain significance
Full SNX27 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 145
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SNX27 p.Met413Leu
Conflicting
Single submitter
Dravet syndrome
Predictors lean, ClinVar uncertain 88
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SNX27 p.Ala280Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Ala305Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Arg330Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Arg476Leu
Uncertain significance
Multiple submitters
Dravet syndrome
-
SNX27 p.Arg524Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Asp5Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Gly19Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Gly6Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Ile428Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Met258Ile
Uncertain significance
Multiple submitters
Dravet syndrome
-
SNX27 p.Pro14Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Pro14Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Ser146Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Thr313Met
Uncertain significance
Multiple submitters
Dravet syndrome
-
SNX27 p.Val442Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Ala162Thr
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ala188Gly
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ala234Val
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ala305Ser
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ala305Thr
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ala31Val
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ala333Pro
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Arg100His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SNX27 p.Arg100Ser
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Arg235Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SNX27 p.Arg236His
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Arg330Gly
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Arg437Thr
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Arg92Leu
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Asn176Ser
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Asn206Asp
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Asn294Lys
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Asn373Ser
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Asn508Ser
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Asp144Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SNX27 p.Asp266Asn
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Gln116Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SNX27 p.Gln152Arg
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Gln152Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SNX27 p.Gln299Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SNX27 p.Glu244Gly
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Glu489Lys
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Glu520Lys
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Glu7Lys
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Gly309Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SNX27 p.Gly35Ser
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Gly40Ser
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Gly54Ser
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Gly87Trp
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Gly88Ala
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Gly98Arg
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.His382Leu
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.His454Arg
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.His80Asp
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.His80Leu
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ile252Thr
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Leu150Phe
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Leu192Gln
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Leu219Pro
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Leu320Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SNX27 p.Leu405Pro
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Lys160Glu
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Lys359Glu
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Lys452Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SNX27 p.Lys496Gln
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Met413Thr
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Met413Val
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Phe486Ser
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Pro136Ser
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Pro430Leu
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ser149Leu
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ser226Thr
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ser312Asn
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ser327Phe
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ser447Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SNX27 p.Thr286Met
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Thr288Ala
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Thr420Ser
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Thr449Met
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Trp499Arg
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Trp499Gly
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Tyr155Cys
Uncertain significance
Single submitter
SNX27-related disorder
-
SNX27 p.Tyr183Cys
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Tyr342Asp
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Tyr406His
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Tyr506Cys
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Val275Ile
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Val350Met
Uncertain significance
Single submitter
Dravet syndrome
Predictors split 56
The independent predictors disagree with each other — read with care.
-
SNX27 p.Arg492Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Asn108Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Asn416Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Asn425Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Asn71Asp
Uncertain significance
Multiple submitters
Dravet syndrome
-
SNX27 p.Asp480His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SNX27 p.Gly87Arg
Uncertain significance
Multiple submitters
Dravet syndrome
-
SNX27 p.Leu375Arg
Uncertain significance
Multiple submitters
Dravet syndrome
-
SNX27 p.Ala201Thr
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ala303Gly
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ala303Val
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Arg122Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SNX27 p.Arg218Gln
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Arg358Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SNX27 p.Arg419Lys
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Arg498Gln
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Asn416Asp
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Asn416His
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Asn71His
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Asn71Lys
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Asp274Asn
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Asp283Gly
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Asp386His
Likely benign
Single submitter
Dravet syndrome
-
SNX27 p.Asp91Tyr
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Gln259Lys
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Gln383Glu
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Glu199Gln
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Glu241Lys
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Glu276Asp
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Glu366Lys
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Glu73Lys
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Gly18Ala
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Gly24Arg
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Gly24Trp
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Gly25Trp
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Gly483Arg
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.His106Pro
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.His382Arg
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.His431Tyr
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.His450Tyr
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ile165Leu
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ile428Asn
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Leu130Met
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Lys307Asn
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Lys394Thr
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Phe211Tyr
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Ser295Gly
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Thr286Lys
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Thr356Asn
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Tyr342Cys
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Tyr379His
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Val300Ile
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Val323Glu
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Val385Ala
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Val412Asp
Uncertain significance
Single submitter
Dravet syndrome
-
SNX27 p.Val44Leu
Uncertain significance
Single submitter
Dravet syndrome
All SNX27 variants
Pathogenic 17
- p.Ala89fs Single submitter Dravet syndrome
- p.Arg218Ter Single submitter Dravet syndrome
- p.Arg358Ter Single submitter Dravet syndrome
- p.Arg476Ter Single submitter Dravet syndrome
- p.Arg492Ter Single submitter Dravet syndrome
- p.Arg498Ter Single submitter Dravet syndrome
- p.Glu210fs Single submitter Dravet syndrome
- p.Glu407fs Single submitter Dravet syndrome
- p.His326fs Single submitter Dravet syndrome
- p.Leu453fs Single submitter Dravet syndrome
- p.Lys293fs Single submitter Dravet syndrome
- p.Trp477Ter Single submitter Dravet syndrome
- p.Tyr186fs Single submitter Dravet syndrome
- p.Tyr406Ter Single submitter Dravet syndrome
- p.Cys432Tyr No assertion criteria DAMSEH-DANSON NEURODEVELOPMENTAL DISORDER
- p.Met310Thr No assertion criteria DAMSEH-DANSON NEURODEVELOPMENTAL DISORDER
- p.Tyr170Ter No assertion criteria DAMSEH-DANSON NEURODEVELOPMENTAL DISORDER
Pathogenic/Likely pathogenic 1
- p.Arg235Ter Multiple submitters Dravet syndrome
Likely pathogenic 4
- c.1240-2A>G Single submitter Dravet syndrome
- p.Arg330His Single submitter
- p.Leu262fs Single submitter
- p.Pro217fs Single submitter DAMSEH-DANSON NEURODEVELOPMENTAL DISORDER
Conflicting classifications of pathogenicity 2
- c.802-4C>T Single submitter Dravet syndrome
- p.Met413Leu Single submitter Dravet syndrome ⚠
Benign 13
- c.801+18T>A Multiple submitters Dravet syndrome
- p.Val385= Multiple submitters Dravet syndrome
- c.1240-3del Single submitter Dravet syndrome
- c.1240-3dup Single submitter Dravet syndrome
- c.1240-4_1240-3del Single submitter Dravet syndrome
- c.1389+17G>A Single submitter Dravet syndrome
- c.1519-4dup Single submitter Dravet syndrome
- c.1578+118G>A Single submitter Dravet syndrome
- c.801+19del Single submitter Dravet syndrome
- c.986-20G>C Single submitter Dravet syndrome
- p.Ile443= Single submitter Dravet syndrome
- c.1240-4_1240-3dup No assertion criteria SNX27-related disorder
- c.1240-5_1240-3del No assertion criteria SNX27-related disorder
Benign/Likely benign 2
- p.Phe328= Multiple submitters Dravet syndrome
- p.Val323Met Multiple submitters Dravet syndrome
Likely benign 212
- c.1149+10T>C Single submitter Dravet syndrome
- c.1149+15C>G Single submitter Dravet syndrome
- c.1149+18_1149+20del Single submitter Dravet syndrome
- c.1149+20T>A Single submitter Dravet syndrome
- c.1150-13G>C Single submitter Dravet syndrome
- c.1150-14T>C Single submitter Dravet syndrome
- c.1150-4A>C Single submitter Dravet syndrome
- c.1150-9T>C Single submitter Dravet syndrome
- c.1240-12_1240-11insCTT Single submitter Dravet syndrome
- c.1240-13_1240-12insCT Single submitter Dravet syndrome
- c.1240-13_1240-3del Single submitter Dravet syndrome
- c.1240-14_1240-3del Single submitter Dravet syndrome
- c.1240-14T>C Single submitter Dravet syndrome
- c.1240-15_1240-3del Single submitter Dravet syndrome
- c.1240-16_1240-3del Single submitter Dravet syndrome
- c.1240-17_1240-3del Single submitter Dravet syndrome
- c.1240-18_1240-3del Single submitter Dravet syndrome
- c.1240-19_1240-3del Single submitter Dravet syndrome
- c.1240-3_1240-2insCTTT Single submitter Dravet syndrome
- c.1240-3_1240-2insTCTTT Single submitter Dravet syndrome
- c.1240-4_1240-3insCTT Single submitter Dravet syndrome
- c.1240-5_1240-4insCT Single submitter Dravet syndrome
- c.1240-6_1240-5insC Single submitter Dravet syndrome
- c.1240-6T>C Single submitter Dravet syndrome
- c.1240-7_1240-3del Single submitter
- c.1389+15T>C Single submitter Dravet syndrome
- c.1389+16A>G Single submitter Dravet syndrome
- c.1389+20C>T Single submitter Dravet syndrome
- c.1390-12T>C Single submitter Dravet syndrome
- c.1390-15G>T Single submitter Dravet syndrome
- c.1390-20C>T Single submitter Dravet syndrome
- c.1390-4C>T Single submitter Dravet syndrome
- c.1518+10A>G Single submitter Dravet syndrome
- c.1518+13T>C Single submitter Dravet syndrome
- c.1518+14G>A Single submitter Dravet syndrome
- c.1518+17G>A Single submitter Dravet syndrome
- c.1519-11T>A Single submitter Dravet syndrome
- c.1519-18C>T Single submitter Dravet syndrome
- c.1519-8T>C Single submitter Dravet syndrome
- c.1578+100G>T Single submitter Dravet syndrome
- c.1578+11A>G Single submitter Dravet syndrome
- c.1578+12C>T Single submitter Dravet syndrome
- c.1578+18T>C Single submitter Dravet syndrome
- c.1578+94A>G Single submitter Dravet syndrome
- c.311+11G>A Single submitter Dravet syndrome
- c.311+13G>A Single submitter Dravet syndrome
- c.311+15T>G Single submitter Dravet syndrome
- c.311+20G>A Single submitter Dravet syndrome
- c.311+20G>C Single submitter Dravet syndrome
- c.311+22_311+38dup Single submitter Dravet syndrome
- c.311+9C>T Single submitter Dravet syndrome
- c.312-14C>G Single submitter Dravet syndrome
- c.312-16C>G Single submitter Dravet syndrome
- c.312-4T>G Single submitter Dravet syndrome
- c.312-9T>C Single submitter Dravet syndrome
- c.543+16A>G Single submitter Dravet syndrome
- c.543+19C>T Single submitter Dravet syndrome
- c.543+20G>A Single submitter Dravet syndrome
- c.543+20G>T Single submitter Dravet syndrome
- c.543+6_543+7insA Single submitter Dravet syndrome
- c.543+9C>T Single submitter Dravet syndrome
- c.544-14T>C Single submitter Dravet syndrome
- c.544-4C>A Single submitter Dravet syndrome
- c.544-5A>G Single submitter Dravet syndrome
- c.737-13T>C Single submitter Dravet syndrome
- c.737-4A>G Single submitter Dravet syndrome
- c.737-6C>T Single submitter Dravet syndrome
- c.801+15C>G Single submitter Dravet syndrome
- c.801+19T>C Single submitter Dravet syndrome
- c.801+20A>G Single submitter Dravet syndrome
- c.802-15T>C Single submitter Dravet syndrome
- c.802-16A>C Single submitter Dravet syndrome
- c.802-16A>G Single submitter Dravet syndrome
- c.802-7C>A Single submitter Dravet syndrome
- c.906+15C>T Single submitter Dravet syndrome
- c.906+16A>G Single submitter Dravet syndrome
- c.906+17C>T Single submitter Dravet syndrome
- c.907-15C>T Single submitter Dravet syndrome
- c.907-16T>C Single submitter Dravet syndrome
- c.907-17A>G Single submitter Dravet syndrome
- c.907-5C>G Single submitter Dravet syndrome
- c.907-6C>T Single submitter Dravet syndrome
- c.985+15C>G Single submitter Dravet syndrome
- c.985+16T>A Single submitter Dravet syndrome
- c.985+18A>G Single submitter Dravet syndrome
- c.985+8C>A Single submitter Dravet syndrome
- c.985+8C>T Single submitter Dravet syndrome
- c.986-13_986-12del Single submitter Dravet syndrome
- c.986-13G>A Single submitter Dravet syndrome
- c.986-6C>G Single submitter Dravet syndrome
- p.Ala112= Single submitter Dravet syndrome
- p.Ala123= Single submitter Dravet syndrome
- p.Ala2= Single submitter Dravet syndrome
- p.Ala201= Single submitter Dravet syndrome
- p.Ala280= Single submitter Dravet syndrome
- p.Ala376= Single submitter Dravet syndrome
- p.Ala395= Single submitter Dravet syndrome
- p.Ala433= Single submitter Dravet syndrome
- p.Ala445= Single submitter Dravet syndrome
- p.Ala455= Single submitter Dravet syndrome
- p.Ala83= Single submitter Dravet syndrome
- p.Ala93= Single submitter Dravet syndrome
- p.Arg122= Single submitter Dravet syndrome
- p.Arg290= Single submitter Dravet syndrome
- p.Arg409= Single submitter Dravet syndrome
- p.Arg476= Single submitter Dravet syndrome
- p.Arg58= Single submitter Dravet syndrome
- p.Asn176= Single submitter Dravet syndrome
- p.Asn184= Single submitter Dravet syndrome
- p.Asn206= Single submitter Dravet syndrome
- p.Asn316= Single submitter Dravet syndrome
- p.Asn33= Single submitter Dravet syndrome
- p.Asn335= Single submitter Dravet syndrome
- p.Asn373= Single submitter Dravet syndrome
- p.Asp141= Single submitter Dravet syndrome
- p.Asp147= Single submitter Dravet syndrome
- p.Asp274= Single submitter Dravet syndrome
- p.Asp311= Single submitter Dravet syndrome
- p.Asp374= Single submitter Dravet syndrome
- p.Asp386His Single submitter Dravet syndrome ⚠
- p.Asp5= Single submitter Dravet syndrome
- p.Cys513= Single submitter Dravet syndrome
- p.Gln152= Single submitter Dravet syndrome
- p.Gln191= Single submitter Dravet syndrome
- p.Gln205= Single submitter Dravet syndrome
- p.Gln231= Single submitter
- p.Gln403= Single submitter Dravet syndrome
- p.Gln66= Single submitter Dravet syndrome
- p.Glu199= Single submitter Dravet syndrome
- p.Glu407= Single submitter Dravet syndrome
- p.Glu481= Single submitter Dravet syndrome
- p.Glu520= Single submitter Dravet syndrome
- p.Glu63= Single submitter Dravet syndrome
- p.Glu73= Single submitter Dravet syndrome
- p.Gly111= Single submitter Dravet syndrome
- p.Gly23= Single submitter Dravet syndrome
- p.Gly24= Single submitter Dravet syndrome
- p.Gly271Asp Single submitter Dravet syndrome
- p.Gly35= Single submitter Dravet syndrome
- p.Gly440= Single submitter Dravet syndrome
- p.Gly87= Single submitter Dravet syndrome
- p.Gly88= Single submitter Dravet syndrome
- p.His106= Single submitter Dravet syndrome
- p.His114= Single submitter Dravet syndrome
- p.His172= Single submitter Dravet syndrome
- p.His339= Single submitter Dravet syndrome
- p.His441= Single submitter Dravet syndrome
- p.His450= Single submitter Dravet syndrome
- p.His454= Single submitter Dravet syndrome
- p.His80= Single submitter Dravet syndrome
- p.Ile252= Single submitter Dravet syndrome
- p.Ile304= Single submitter Dravet syndrome
- p.Ile343Val Single submitter Inborn genetic diseases
- p.Leu102= Single submitter Dravet syndrome
- p.Leu120= Single submitter Dravet syndrome
- p.Leu133= Single submitter Dravet syndrome
- p.Leu207= Single submitter Dravet syndrome
- p.Leu219= Single submitter Dravet syndrome
- p.Leu239= Single submitter Dravet syndrome
- p.Leu243= Single submitter Dravet syndrome
- p.Leu262= Single submitter Dravet syndrome
- p.Leu332= Single submitter Dravet syndrome
- p.Leu355= Single submitter Dravet syndrome
- p.Leu369= Single submitter Dravet syndrome
- p.Leu405= Single submitter Dravet syndrome
- p.Leu418= Single submitter Dravet syndrome
- p.Leu462= Single submitter Dravet syndrome
- p.Leu67= Single submitter Dravet syndrome
- p.Leu78= Single submitter Dravet syndrome
- p.Lys115= Single submitter Dravet syndrome
- p.Lys126= Single submitter Dravet syndrome
- p.Lys208= Single submitter Dravet syndrome
- p.Lys389= Single submitter Dravet syndrome
- p.Lys390= Single submitter Dravet syndrome
- p.Lys522= Single submitter Dravet syndrome
- p.Met258Val Single submitter Dravet syndrome
- p.Phe318= Single submitter Dravet syndrome
- p.Phe429= Single submitter Dravet syndrome
- p.Phe488= Single submitter Dravet syndrome
- p.Phe514= Single submitter Dravet syndrome
- p.Pro220= Single submitter Dravet syndrome
- p.Pro224= Single submitter Dravet syndrome
- p.Pro430= Single submitter Dravet syndrome
- p.Pro77= Single submitter Dravet syndrome
- p.Ser149= Single submitter Dravet syndrome
- p.Ser265= Single submitter Dravet syndrome
- p.Ser273= Single submitter Dravet syndrome
- p.Ser325= Single submitter Dravet syndrome
- p.Ser327= Single submitter Dravet syndrome
- p.Thr113= Single submitter Dravet syndrome
- p.Thr286= Single submitter Dravet syndrome
- p.Thr288= Single submitter Dravet syndrome
- p.Thr314= Single submitter Dravet syndrome
- p.Thr347= Single submitter Dravet syndrome
- p.Thr364= Single submitter Dravet syndrome
- p.Thr449= Single submitter Dravet syndrome
- p.Thr504= Single submitter Dravet syndrome
- p.Tyr157= Single submitter Dravet syndrome
- p.Tyr242= Single submitter Dravet syndrome
- p.Tyr392= Single submitter Dravet syndrome
- p.Tyr406= Single submitter Dravet syndrome
- p.Val117= Single submitter Dravet syndrome
- p.Val132= Single submitter Dravet syndrome
- p.Val182= Single submitter Dravet syndrome
- p.Val272= Single submitter Dravet syndrome
- p.Val291= Single submitter Dravet syndrome
- p.Val388= Single submitter Dravet syndrome
- p.Val412= Single submitter Dravet syndrome
- p.Val47= Single submitter Dravet syndrome
- p.Val84= Single submitter Dravet syndrome
- c.1240-10_1240-3dup No assertion criteria SNX27-related disorder
- c.1240-9_1240-3dup No assertion criteria SNX27-related disorder
Uncertain significance 166
- p.Ala280Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala305Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg330Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg476Leu Multiple submitters Dravet syndrome ⚠
- p.Arg492Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg524Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn108Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn416Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn425Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn71Asp Multiple submitters Dravet syndrome ⚠
- p.Asp141Val Multiple submitters Inborn genetic diseases
- p.Asp480His Multiple submitters Inborn genetic diseases ⚠
- p.Asp5Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly19Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly6Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly87Arg Multiple submitters Dravet syndrome ⚠
- p.Ile428Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu375Arg Multiple submitters Dravet syndrome ⚠
- p.Met258Ile Multiple submitters Dravet syndrome ⚠
- p.Pro14Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro14Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser146Thr Multiple submitters Inborn genetic diseases ⚠
- p.Thr313Met Multiple submitters Dravet syndrome ⚠
- p.Val442Ile Multiple submitters Inborn genetic diseases ⚠
- c.1150-3T>C Single submitter Dravet syndrome
- c.1240-3_1240-2insTTA Single submitter Dravet syndrome
- c.1240-3T>A Single submitter Dravet syndrome
- c.1240-3T>C Single submitter Dravet syndrome
- c.1578+119_1578+122del Single submitter Dravet syndrome
- c.1578+2_1578+3dup Single submitter Dravet syndrome
- c.543+6T>C Single submitter Dravet syndrome
- c.737-15_737-10del Single submitter Dravet syndrome
- c.986-3T>C Single submitter Dravet syndrome
- p.Ala162Thr Single submitter Dravet syndrome ⚠
- p.Ala188Gly Single submitter Dravet syndrome ⚠
- p.Ala201Thr Single submitter Dravet syndrome ⚠
- p.Ala234Val Single submitter Dravet syndrome ⚠
- p.Ala303Gly Single submitter Dravet syndrome ⚠
- p.Ala303Val Single submitter Dravet syndrome ⚠
- p.Ala305Ser Single submitter Dravet syndrome ⚠
- p.Ala305Thr Single submitter Dravet syndrome ⚠
- p.Ala31Val Single submitter Dravet syndrome ⚠
- p.Ala333Pro Single submitter Dravet syndrome ⚠
- p.Ala349Asp Single submitter Dravet syndrome
- p.Ala83Phe Single submitter Dravet syndrome
- p.Arg100His Single submitter Inborn genetic diseases ⚠
- p.Arg100Ser Single submitter Dravet syndrome ⚠
- p.Arg122Gln Single submitter Inborn genetic diseases ⚠
- p.Arg218Gln Single submitter Dravet syndrome ⚠
- p.Arg235Gln Single submitter Inborn genetic diseases ⚠
- p.Arg236His Single submitter Dravet syndrome ⚠
- p.Arg330Gly Single submitter Dravet syndrome ⚠
- p.Arg358Gln Single submitter Inborn genetic diseases ⚠
- p.Arg419Lys Single submitter Dravet syndrome ⚠
- p.Arg437Thr Single submitter Dravet syndrome ⚠
- p.Arg438Lys Single submitter Dravet syndrome
- p.Arg498Gln Single submitter Dravet syndrome ⚠
- p.Arg92Leu Single submitter Dravet syndrome ⚠
- p.Asn176Ser Single submitter Dravet syndrome ⚠
- p.Asn206Asp Single submitter Dravet syndrome ⚠
- p.Asn294Lys Single submitter Dravet syndrome ⚠
- p.Asn373Ser Single submitter Dravet syndrome ⚠
- p.Asn416Asp Single submitter Dravet syndrome ⚠
- p.Asn416His Single submitter Dravet syndrome ⚠
- p.Asn508Ser Single submitter Dravet syndrome ⚠
- p.Asn71His Single submitter Dravet syndrome ⚠
- p.Asn71Lys Single submitter Dravet syndrome ⚠
- p.Asp144Ala Single submitter Inborn genetic diseases ⚠
- p.Asp266Asn Single submitter Dravet syndrome ⚠
- p.Asp274Asn Single submitter Dravet syndrome ⚠
- p.Asp283Gly Single submitter Dravet syndrome ⚠
- p.Asp91Tyr Single submitter Dravet syndrome ⚠
- p.Cys30_Asn33del Single submitter Dravet syndrome
- p.Gln116Arg Single submitter Inborn genetic diseases ⚠
- p.Gln152Arg Single submitter Dravet syndrome ⚠
- p.Gln152Pro Single submitter Inborn genetic diseases ⚠
- p.Gln259Lys Single submitter Dravet syndrome ⚠
- p.Gln299Glu Single submitter Inborn genetic diseases ⚠
- p.Gln383Glu Single submitter Dravet syndrome ⚠
- p.Glu199Gln Single submitter Dravet syndrome ⚠
- p.Glu241Gly Single submitter
- p.Glu241Lys Single submitter Dravet syndrome ⚠
- p.Glu244Gly Single submitter Dravet syndrome ⚠
- p.Glu276Asp Single submitter Dravet syndrome ⚠
- p.Glu366Lys Single submitter Dravet syndrome ⚠
- p.Glu426Asp Single submitter Dravet syndrome
- p.Glu489Lys Single submitter Dravet syndrome ⚠
- p.Glu520Lys Single submitter Dravet syndrome ⚠
- p.Glu73Lys Single submitter Dravet syndrome ⚠
- p.Glu7Lys Single submitter Dravet syndrome ⚠
- p.Gly18Ala Single submitter Dravet syndrome ⚠
- p.Gly24_Gly25dup Single submitter Dravet syndrome
- p.Gly24Arg Single submitter Dravet syndrome ⚠
- p.Gly24Trp Single submitter Dravet syndrome ⚠
- p.Gly25_Ser26insGlyGly Single submitter Dravet syndrome
- p.Gly25Trp Single submitter Dravet syndrome ⚠
- p.Gly309Val Single submitter Inborn genetic diseases ⚠
- p.Gly35Ser Single submitter Dravet syndrome ⚠
- p.Gly40Ser Single submitter Dravet syndrome ⚠
- p.Gly483Arg Single submitter Dravet syndrome ⚠
- p.Gly54Ser Single submitter Dravet syndrome ⚠
- p.Gly87Ala Single submitter Dravet syndrome
- p.Gly87Trp Single submitter Dravet syndrome ⚠
- p.Gly88Ala Single submitter Dravet syndrome ⚠
- p.Gly98Arg Single submitter Dravet syndrome ⚠
- p.His106Pro Single submitter Dravet syndrome ⚠
- p.His382Arg Single submitter Dravet syndrome ⚠
- p.His382Leu Single submitter Dravet syndrome ⚠
- p.His431Tyr Single submitter Dravet syndrome ⚠
- p.His450Tyr Single submitter Dravet syndrome ⚠
- p.His454Arg Single submitter Dravet syndrome ⚠
- p.His80Asp Single submitter Dravet syndrome ⚠
- p.His80Leu Single submitter Dravet syndrome ⚠
- p.Ile165Leu Single submitter Dravet syndrome ⚠
- p.Ile252Thr Single submitter Dravet syndrome ⚠
- p.Ile428Asn Single submitter Dravet syndrome ⚠
- p.Leu130Met Single submitter Dravet syndrome ⚠
- p.Leu150Phe Single submitter Dravet syndrome ⚠
- p.Leu192Gln Single submitter Dravet syndrome ⚠
- p.Leu219Pro Single submitter Dravet syndrome ⚠
- p.Leu320Val Single submitter Inborn genetic diseases ⚠
- p.Leu405Pro Single submitter Dravet syndrome ⚠
- p.Lys160Glu Single submitter Dravet syndrome ⚠
- p.Lys307Asn Single submitter Dravet syndrome ⚠
- p.Lys359Glu Single submitter Dravet syndrome ⚠
- p.Lys394Thr Single submitter Dravet syndrome ⚠
- p.Lys452Glu Single submitter Inborn genetic diseases ⚠
- p.Lys496Gln Single submitter Dravet syndrome ⚠
- p.Lys525fs Single submitter Dravet syndrome
- p.Met413Thr Single submitter Dravet syndrome ⚠
- p.Met413Val Single submitter Dravet syndrome ⚠
- p.Met510Val Single submitter Inborn genetic diseases
- p.Phe211Tyr Single submitter Dravet syndrome ⚠
- p.Phe486Ser Single submitter Dravet syndrome ⚠
- p.Pro136Ser Single submitter Dravet syndrome ⚠
- p.Pro282_Asp283insPro Single submitter Dravet syndrome
- p.Pro430Leu Single submitter Dravet syndrome ⚠
- p.Ser149Leu Single submitter Dravet syndrome ⚠
- p.Ser226Thr Single submitter Dravet syndrome ⚠
- p.Ser295Gly Single submitter Dravet syndrome ⚠
- p.Ser312Asn Single submitter Dravet syndrome ⚠
- p.Ser327Phe Single submitter Dravet syndrome ⚠
- p.Ser447Gly Single submitter Inborn genetic diseases ⚠
- p.Thr286Lys Single submitter Dravet syndrome ⚠
- p.Thr286Met Single submitter Dravet syndrome ⚠
- p.Thr288Ala Single submitter Dravet syndrome ⚠
- p.Thr356Asn Single submitter Dravet syndrome ⚠
- p.Thr420Ser Single submitter Dravet syndrome ⚠
- p.Thr449Met Single submitter Dravet syndrome ⚠
- p.Trp499Arg Single submitter Dravet syndrome ⚠
- p.Trp499Gly Single submitter Dravet syndrome ⚠
- p.Tyr155Cys Single submitter SNX27-related disorder ⚠
- p.Tyr183Cys Single submitter Dravet syndrome ⚠
- p.Tyr342Asp Single submitter Dravet syndrome ⚠
- p.Tyr342Cys Single submitter Dravet syndrome ⚠
- p.Tyr379His Single submitter Dravet syndrome ⚠
- p.Tyr406His Single submitter Dravet syndrome ⚠
- p.Tyr506Cys Single submitter Dravet syndrome ⚠
- p.Val251Gly Single submitter Dravet syndrome
- p.Val275Ile Single submitter Dravet syndrome ⚠
- p.Val300Ile Single submitter Dravet syndrome ⚠
- p.Val323Glu Single submitter Dravet syndrome ⚠
- p.Val350Met Single submitter Dravet syndrome ⚠
- p.Val385Ala Single submitter Dravet syndrome ⚠
- p.Val412Asp Single submitter Dravet syndrome ⚠
- p.Val44Leu Single submitter Dravet syndrome ⚠