SI — 1667 ClinVar variants
All ClinVar germline SI variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 733 flagged for review →
64 Pathogenic · 18 Pathogenic/Likely pathogenic · 77 Likely pathogenic · 92 Conflicting · 36 Benign · 26 Benign/Likely benign · 591 Likely benign · 763 Uncertain significance
Full SI gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 733
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.
-
SI p.Gln117Arg
Pathogenic
No assertion criteria
congenital sucrase-isomaltase deficiency
Predictors agree, ClinVar conflicts 23
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SI p.Arg434Gln
Conflicting
Single submitter
Inborn genetic diseases
-
SI p.Asn1005Thr
Conflicting
Single submitter
Inborn genetic diseases
-
SI p.Asp1429Glu
Conflicting
Single submitter
Inborn genetic diseases
-
SI p.Asp1623Ala
Conflicting
Single submitter
Inborn genetic diseases
-
SI p.Gln930Arg
Conflicting
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Glu1158Gln
Conflicting
Single submitter
Inborn genetic diseases
-
SI p.Gly1073Asp
Conflicting
Single submitter
Inborn genetic diseases
-
SI p.Gly1302Ala
Conflicting
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Gly515Val
Conflicting
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Ile1378Ser
Conflicting
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Ile1756Val
Conflicting
Single submitter
Inborn genetic diseases
-
SI p.Ile389Asn
Conflicting
Single submitter
Inborn genetic diseases
-
SI p.Ile492Val
Conflicting
Single submitter
Inborn genetic diseases
-
SI p.Ile799Val
Conflicting
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Met119Leu
Conflicting
Single submitter
Inborn genetic diseases
-
SI p.Phe1745Cys
Conflicting
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Thr1258Ala
Conflicting
Single submitter
Inborn genetic diseases
-
SI p.Thr1574Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SI p.Thr1606Ile
Conflicting
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Thr1788Met
Conflicting
Single submitter
Inborn genetic diseases
-
SI p.Trp105Cys
Conflicting
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Val1651Ile
Conflicting
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Val371Met
Conflicting
Single submitter
congenital sucrase-isomaltase deficiency
Predictors lean, ClinVar uncertain 376
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 376
-
SI p.Ala1299Glu
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ala2Glu
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ala429Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Ala567Thr
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ala808Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Arg1078Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Arg1124Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Arg1484His
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg1492Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Arg1544Cys
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg263Gln
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg588Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Arg648Lys
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg692Cys
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg810His
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Asn144Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Asn1653Ser
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Asn932Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Asp1174Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Asp1617His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Asp390Gly
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Asp633Asn
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Asp69Glu
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Asp731His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Cys955Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Gln1098Pro
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Gln1276Arg
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Gln677Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Glu1414Gln
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Glu640Gly
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
- SI p.Gly1141Ser Uncertain significance Multiple submitters
-
SI p.Gly1289Arg
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Gly276Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Gly293Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Gly318Ser
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Gly447Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Gly788Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Gly959Cys
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Gly965Asp
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
- SI p.His1684Gln Uncertain significance Multiple submitters
-
SI p.His790Arg
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ile1111Val
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ile124Thr
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ile1285Thr
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ile1443Thr
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ile1822Val
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ile204Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Ile204Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Ile260Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Ile432Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Ile464Thr
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Lys1026Glu
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Lys1385Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Lys827Glu
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Met539Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Met780Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Phe108Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Phe1194Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Phe139Leu
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Phe1401Leu
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Phe1625Val
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Phe280Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Pro1363Ser
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Pro381Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Pro657Ser
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ser1081Asn
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ser1400Asn
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ser299Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Ser460Cys
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ser60Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Thr1120Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Thr1135Ile
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Thr1180Ala
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Thr1305Ile
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Thr1767Met
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Thr184Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Thr188Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Thr531Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Thr732Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Thr871Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Thr951Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Trp1331Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Trp609Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Tyr1502Cys
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Tyr1587Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Tyr474His
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Tyr540Cys
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Val109Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Val1188Ile
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Val1379Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Val1774Ile
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Val194Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Val20Asp
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Val38Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Val717Asp
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ala1004Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SI p.Ala1155Ser Uncertain significance Single submitter
- SI p.Ala1155Thr Uncertain significance Single submitter
- SI p.Ala1223Ser Uncertain significance Single submitter
-
SI p.Ala1245Asp
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
- SI p.Ala1245Thr Uncertain significance Single submitter
-
SI p.Ala1332Glu
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
- SI p.Ala1332Thr Uncertain significance Single submitter
- SI p.Ala1503Val Uncertain significance Single submitter
-
SI p.Ala1561Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SI p.Ala1576Val
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Ala1602Ser
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
- SI p.Ala26Asp Uncertain significance Single submitter
- SI p.Ala404Gly Uncertain significance Single submitter
- SI p.Ala436Thr Uncertain significance Single submitter
- SI p.Ala769Thr Uncertain significance Single submitter
- SI p.Ala784Thr Uncertain significance Single submitter
- SI p.Ala826Asp Uncertain significance Single submitter
-
SI p.Ala971Thr
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Arg1061Thr
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Arg1186Leu
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Arg1230Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SI p.Arg1291Lys
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
- SI p.Arg1484Cys Uncertain significance Single submitter
- SI p.Arg1544Ser Uncertain significance Single submitter
- SI p.Arg1564Thr Uncertain significance Single submitter
-
SI p.Arg157Gly
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
- SI p.Arg315Ser Uncertain significance Single submitter
- SI p.Arg435His Uncertain significance Single submitter
- SI p.Arg588His Uncertain significance Single submitter
-
SI p.Arg596Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SI p.Arg692His
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Arg810Ser
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Arg891Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SI p.Arg978Ser Uncertain significance Single submitter
-
SI p.Asn1145Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SI p.Asn1171Lys Uncertain significance Single submitter
-
SI p.Asn1250Lys
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
- SI p.Asn1303His Uncertain significance Single submitter
- SI p.Asn156Ser Uncertain significance Single submitter
- SI p.Asn1790Lys Uncertain significance Single submitter
- SI p.Asn1792Ser Uncertain significance Single submitter
- SI p.Asn300Asp Uncertain significance Single submitter
- SI p.Asn65Ser Uncertain significance Single submitter
- SI p.Asn845His Uncertain significance Single submitter
- SI p.Asn845Lys Uncertain significance Single submitter
- SI p.Asn900Ser Uncertain significance Single submitter
-
SI p.Asn926Ser
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
- SI p.Asn938Ser Uncertain significance Single submitter
- SI p.Asp1193Asn Uncertain significance Single submitter
- SI p.Asp1318Val Uncertain significance Single submitter
- SI p.Asp1337Asn Uncertain significance Single submitter
-
SI p.Asp1380Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SI p.Asp1394His Uncertain significance Single submitter
-
SI p.Asp142His
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
Predictors split 333
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 333
-
SI p.Ala1569Thr
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ala1654Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Ala404Val
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ala573Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Ala599Val
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ala760Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Ala819Thr
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg1019Cys
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg1019His
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg1078Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Arg1079Ile
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg1105Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Arg1136Ser
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg1186Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Arg1655Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Arg1655Trp
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg1686His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Arg232His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Arg250Cys
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg250His
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg3Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Arg435Cys
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg52Cys
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg777Trp
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Arg989His
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Asn406Thr
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Asn523His
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Asp1064Asn
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Asp401Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Asp557Asn
Uncertain significance
Multiple submitters
SI-related disorder
-
SI p.Asp839Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Gln912His
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Gln933Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Glu1066Gly
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Glu1159Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Glu445Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Glu894Gly
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Gly1476Ala
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Gly1760Val
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Gly1778Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Gly218Val
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Gly553Ser
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Gly794Ser
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.His251Leu
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ile1343Thr
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ile1480Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Ile1756Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Ile306Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Ile616Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Leu353Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Lys193Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Lys369Arg
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Met1515Val
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Met539Thr
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Phe1281Leu
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Phe1798Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Pro1071Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SI p.Pro1200Ser Likely benign Multiple submitters
-
SI p.Pro1466Thr
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Pro173Ala
Benign/Likely benign
Multiple submitters
congenital sucrase-isomaltase deficiency
- SI p.Pro173Ser Uncertain significance Multiple submitters
-
SI p.Pro480Thr
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ser1080Arg
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ser1490Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Ser42Arg
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Ser565Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Ser967Phe
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Thr1052Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Thr1176Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Thr1206Ala
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Thr1307Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Thr1326Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Thr1326Ile
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Thr1405Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Thr154Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Thr1606Ser
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Thr1751Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Thr231Ser
Benign/Likely benign
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Thr54Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Thr964Met
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Trp552Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Tyr391Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Tyr781Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Tyr867His
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Tyr867Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Val1022Met
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Val1319Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Val1334Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Val15Phe
Benign
Multiple submitters
congenital sucrase-isomaltase deficiency
- SI p.Val1667Leu Likely benign Multiple submitters
-
SI p.Val203Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SI p.Val509Ala
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
-
SI p.Val913Phe
Uncertain significance
Multiple submitters
congenital sucrase-isomaltase deficiency
- SI p.Ala1162Gly Uncertain significance Single submitter
-
SI p.Ala1245Val
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
- SI p.Ala1248Thr Uncertain significance Single submitter
- SI p.Ala1248Val Uncertain significance Single submitter
-
SI p.Ala1274Thr
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
- SI p.Ala128Thr Uncertain significance Single submitter
- SI p.Ala1358Thr Uncertain significance Single submitter
-
SI p.Ala1654Gly
Conflicting
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Ala24Thr
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
- SI p.Ala32Thr Uncertain significance Single submitter
- SI p.Ala598Gly Uncertain significance Single submitter
-
SI p.Ala599Ser
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
- SI p.Ala639Val Uncertain significance Single submitter
- SI p.Ala706Val Uncertain significance Single submitter
-
SI p.Ala893Val
Conflicting
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Ala950Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SI p.Arg1077Gln
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Arg1186His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SI p.Arg1240Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SI p.Arg1367Gly
Conflicting
Single submitter
congenital sucrase-isomaltase deficiency
- SI p.Arg1376Thr Uncertain significance Single submitter
- SI p.Arg1655Leu Uncertain significance Single submitter
-
SI p.Arg1686Cys
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
- SI p.Arg1737Gly Uncertain significance Single submitter
- SI p.Arg1808Cys Uncertain significance Single submitter
-
SI p.Arg376Gln
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Arg376Trp
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Arg52His
Conflicting
Single submitter
Inborn genetic diseases
- SI p.Arg582Lys Uncertain significance Single submitter
-
SI p.Arg774Gly
Conflicting
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Arg777Gln
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
- SI p.Arg958His Uncertain significance Single submitter
- SI p.Arg989Cys Uncertain significance Single submitter
- SI p.Asn1169Ser Uncertain significance Single submitter
-
SI p.Asn156Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- SI p.Asn1682His Uncertain significance Single submitter
-
SI p.Asn1815Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SI p.Asn448Ser Uncertain significance Single submitter
- SI p.Asn580Ser Uncertain significance Single submitter
- SI p.Asn726Asp Uncertain significance Single submitter
- SI p.Asn726His Uncertain significance Single submitter
- SI p.Asn76Ser Uncertain significance Single submitter
-
SI p.Asn823Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SI p.Asn824Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SI p.Asn911His
Uncertain significance
Single submitter
Inborn genetic diseases
- SI p.Asp1028Ala Uncertain significance Single submitter
-
SI p.Asp1244His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SI p.Asp1261Asn
Conflicting
Single submitter
congenital sucrase-isomaltase deficiency
- SI p.Asp1350Tyr Uncertain significance Single submitter
- SI p.Asp1715Gly Uncertain significance Single submitter
- SI p.Asp1738Tyr Uncertain significance Single submitter
- SI p.Asp1810Asn Uncertain significance Single submitter
-
SI p.Asp252Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- SI p.Asp329Val Uncertain significance Single submitter
- SI p.Asp366Glu Uncertain significance Single submitter
-
SI p.Asp394Asn
Uncertain significance
Single submitter
congenital sucrase-isomaltase deficiency
-
SI p.Asp39His
Uncertain significance
Single submitter
Inborn genetic diseases
All SI variants
Pathogenic 64
- p.Arg1077Ter Multiple submitters congenital sucrase-isomaltase deficiency
- p.Arg1704Ter Multiple submitters
- p.Gly92fs Multiple submitters congenital sucrase-isomaltase deficiency
- p.Ala714fs Single submitter
- p.Arg1041Ter Single submitter
- p.Arg1492Ter Single submitter
- p.Arg1504Ter Single submitter
- p.Arg263Ter Single submitter
- p.Arg596fs Single submitter
- p.Arg647fs Single submitter
- p.Asn1027fs Single submitter
- p.Asn1562fs Single submitter
- p.Asn156fs Single submitter
- p.Asn895fs Single submitter
- p.Asp224delinsValTer Single submitter
- p.Cys646fs Single submitter
- p.Gln1705Ter Single submitter
- p.Gln196Ter Single submitter
- p.Gln202Ter Single submitter
- p.Gln265fs Single submitter congenital sucrase-isomaltase deficiency
- p.Gln339Ter Single submitter
- p.Gln748Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Gln90fs Single submitter
- p.Gln912Ter Single submitter
- p.Glu1641Ter Single submitter
- p.Glu179Ter Single submitter
- p.Gly1631fs Single submitter
- p.Gly1669Ter Single submitter
- p.Gly459Ter Single submitter
- p.Gly676fs Single submitter congenital sucrase-isomaltase deficiency
- p.Gly86Ter Single submitter
- p.Gly8Ter Single submitter
- p.Ile11_Ser12insTer Single submitter
- p.Ile1191fs Single submitter
- p.Leu296fs Single submitter
- p.Lys1039fs Single submitter
- p.Lys1510Ter Single submitter
- p.Lys1706fs Single submitter
- p.Lys5fs Single submitter
- p.Lys879fs Single submitter
- p.Phe295_Leu296insTer Single submitter
- p.Thr1187fs Single submitter
- p.Thr1661fs Single submitter
- p.Thr884delinsAlaGlyArgSerGlySerArgLeuTer Single submitter
- p.Trp105Ter Single submitter
- p.Trp360Ter Single submitter
- p.Trp485Ter Single submitter
- p.Trp486Ter Single submitter
- p.Trp728Ter Single submitter
- p.Tyr1063fs Single submitter
- p.Tyr1195fs Single submitter
- p.Tyr1502Ter Single submitter
- p.Tyr1525Ter Single submitter
- p.Tyr1659Ter Single submitter
- p.Tyr239Ter Single submitter
- p.Tyr338Ter Single submitter
- p.Tyr444fs Single submitter
- p.Tyr564Ter Single submitter
- p.Val294fs Single submitter
- p.Val312_Thr313insTer Single submitter
- p.Cys1229Tyr No assertion criteria congenital sucrase-isomaltase deficiency
- p.Gln117Arg No assertion criteria congenital sucrase-isomaltase deficiency ⚠
- p.Leu341Pro No assertion criteria congenital sucrase-isomaltase deficiency
- p.Leu620Pro No assertion criteria congenital sucrase-isomaltase deficiency
Pathogenic/Likely pathogenic 18
- p.Arg1124Ter Multiple submitters Inborn genetic diseases
- p.Arg1609Ter Multiple submitters congenital sucrase-isomaltase deficiency
- p.Asn1403fs Multiple submitters congenital sucrase-isomaltase deficiency
- p.Asp885fs Multiple submitters congenital sucrase-isomaltase deficiency
- p.Cys955Ter Multiple submitters congenital sucrase-isomaltase deficiency
- p.Gln1178Ter Multiple submitters congenital sucrase-isomaltase deficiency
- p.Gln278fs Multiple submitters congenital sucrase-isomaltase deficiency
- p.Gln278Ter Multiple submitters congenital sucrase-isomaltase deficiency
- p.Gln677fs Multiple submitters congenital sucrase-isomaltase deficiency
- p.Glu285Ter Multiple submitters congenital sucrase-isomaltase deficiency
- p.Glu613Ter Multiple submitters SI-related disorder
- p.Glu801Ter Multiple submitters Congenital sucrose-isomaltase deficiency
- p.His1210fs Multiple submitters congenital sucrase-isomaltase deficiency
- p.Leu1062_Tyr1063insTer Multiple submitters congenital sucrase-isomaltase deficiency
- p.Phe1366fs Multiple submitters congenital sucrase-isomaltase deficiency
- p.Phe637fs Multiple submitters congenital sucrase-isomaltase deficiency
- p.Ser982fs Multiple submitters congenital sucrase-isomaltase deficiency
- p.Val342fs Multiple submitters congenital sucrase-isomaltase deficiency
Likely pathogenic 77
- c.2426+1G>A Multiple submitters congenital sucrase-isomaltase deficiency
- c.2737-1G>C Multiple submitters congenital sucrase-isomaltase deficiency
- c.2737-2A>G Multiple submitters SI-related disorder
- c.2893-1G>A Multiple submitters congenital sucrase-isomaltase deficiency
- c.3099+1G>C Multiple submitters congenital sucrase-isomaltase deficiency
- c.3521-1G>T Multiple submitters congenital sucrase-isomaltase deficiency
- c.373+1G>A Multiple submitters congenital sucrase-isomaltase deficiency
- c.4575+2T>C Multiple submitters congenital sucrase-isomaltase deficiency
- c.4927-1G>A Multiple submitters congenital sucrase-isomaltase deficiency
- c.5248-2A>C Multiple submitters congenital sucrase-isomaltase deficiency
- c.635+2T>C Multiple submitters congenital sucrase-isomaltase deficiency
- p.Asp536Val Multiple submitters
- p.Cys943Ser Multiple submitters congenital sucrase-isomaltase deficiency
- c.1146+1G>A Single submitter
- c.1147-2A>G Single submitter
- c.1278+2T>A Single submitter
- c.1513-1G>A Single submitter
- c.1598-1G>A Single submitter
- c.1888-1G>T Single submitter
- c.2004+1G>A Single submitter congenital sucrase-isomaltase deficiency
- c.2159+2T>G Single submitter congenital sucrase-isomaltase deficiency
- c.2160-1G>A Single submitter
- c.2244+2_2244+5del Single submitter
- c.2515+1G>A Single submitter
- c.2737-1G>T Single submitter
- c.2892+1G>A Single submitter
- c.2892+1G>C Single submitter SI-related disorder
- c.3099+1G>T Single submitter
- c.3254+1G>T Single submitter
- c.3423+1G>A Single submitter
- c.3521-19_3567del Single submitter
- c.373+1G>T Single submitter
- c.3760-1G>A Single submitter congenital sucrase-isomaltase deficiency
- c.4180-1G>A Single submitter
- c.4267+1G>A Single submitter
- c.4268-1G>A Single submitter
- c.4406+1G>A Single submitter SI-related disorder
- c.4541-2A>T Single submitter
- c.4692+1G>C Single submitter
- c.483+2T>C Single submitter
- c.4840_4841+2del Single submitter
- c.4841+1G>A Single submitter congenital sucrase-isomaltase deficiency
- c.4841+1G>C Single submitter
- c.4984-1G>A Single submitter
- c.5247+1G>A Single submitter
- c.636-1G>A Single submitter
- p.Arg434Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Asn1535fs Single submitter congenital sucrase-isomaltase deficiency
- p.Asn896fs Single submitter congenital sucrase-isomaltase deficiency
- p.Gln1315Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Gln1409Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Gln153fs Single submitter congenital sucrase-isomaltase deficiency
- p.Gln228Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Gln677Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Glu1069fs Single submitter congenital sucrase-isomaltase deficiency
- p.Glu1211Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Gly1113fs Single submitter congenital sucrase-isomaltase deficiency
- p.Gly515fs Single submitter congenital sucrase-isomaltase deficiency
- p.His1163fs Single submitter congenital sucrase-isomaltase deficiency
- p.Ile627fs Single submitter congenital sucrase-isomaltase deficiency
- p.Leu681fs Single submitter congenital sucrase-isomaltase deficiency
- p.Lys542Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Phe1521fs Single submitter congenital sucrase-isomaltase deficiency
- p.Phe831fs Single submitter congenital sucrase-isomaltase deficiency
- p.Pro183fs Single submitter congenital sucrase-isomaltase deficiency
- p.Ser135_Pro136insThrTyrThrIleTrpLysTer Single submitter congenital sucrase-isomaltase deficiency
- p.Trp1089Ter Single submitter
- p.Trp1461Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Trp468Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Trp552Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Trp931Arg Single submitter
- p.Trp95Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Tyr1231Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Tyr1453Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Tyr190Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Cys960Ter No assertion criteria SI-related disorder
- p.Glu1116fs No assertion criteria SI-related disorder
Conflicting classifications of pathogenicity 92
- c.1147-6T>A Single submitter congenital sucrase-isomaltase deficiency
- c.118+10A>G Single submitter congenital sucrase-isomaltase deficiency
- c.118+11C>T Single submitter congenital sucrase-isomaltase deficiency
- c.1278+11A>G Single submitter congenital sucrase-isomaltase deficiency
- c.1398+12T>C Single submitter congenital sucrase-isomaltase deficiency
- c.1715+8C>A Single submitter congenital sucrase-isomaltase deficiency
- c.1716-13G>A Single submitter congenital sucrase-isomaltase deficiency
- c.2005-11C>T Single submitter congenital sucrase-isomaltase deficiency
- c.2566-11A>G Single submitter congenital sucrase-isomaltase deficiency
- c.2893-10G>A Single submitter congenital sucrase-isomaltase deficiency
- c.3254+14T>G Single submitter congenital sucrase-isomaltase deficiency
- c.3423+11A>G Single submitter congenital sucrase-isomaltase deficiency
- c.3424-12T>C Single submitter congenital sucrase-isomaltase deficiency
- c.373+11C>T Single submitter congenital sucrase-isomaltase deficiency
- c.3760-7A>G Single submitter congenital sucrase-isomaltase deficiency
- c.4062+11C>T Single submitter congenital sucrase-isomaltase deficiency
- c.4062+17C>G Single submitter congenital sucrase-isomaltase deficiency
- c.4540+4A>G Single submitter congenital sucrase-isomaltase deficiency
- c.4692+12C>T Single submitter congenital sucrase-isomaltase deficiency
- c.5108+13T>C Single submitter congenital sucrase-isomaltase deficiency
- c.636-14C>T Single submitter congenital sucrase-isomaltase deficiency
- c.808-14T>A Single submitter congenital sucrase-isomaltase deficiency
- p.Ala1654Gly Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Ala404= Single submitter congenital sucrase-isomaltase deficiency
- p.Ala893Val Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Arg1078= Single submitter congenital sucrase-isomaltase deficiency
- p.Arg1367Gly Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Arg1768= Single submitter congenital sucrase-isomaltase deficiency
- p.Arg434Gln Single submitter Inborn genetic diseases ⚠
- p.Arg52His Single submitter Inborn genetic diseases ⚠
- p.Arg774Gly Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Asn1005Thr Single submitter Inborn genetic diseases ⚠
- p.Asn1403= Single submitter congenital sucrase-isomaltase deficiency
- p.Asn437= Single submitter congenital sucrase-isomaltase deficiency
- p.Asp1261Asn Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Asp1413= Single submitter congenital sucrase-isomaltase deficiency
- p.Asp1429Glu Single submitter Inborn genetic diseases ⚠
- p.Asp1623Ala Single submitter Inborn genetic diseases ⚠
- p.Asp1801= Single submitter Inborn genetic diseases
- p.Gln1000Pro Single submitter Inborn genetic diseases ⚠
- p.Gln151= Single submitter congenital sucrase-isomaltase deficiency
- p.Gln930Arg Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Gln953= Single submitter congenital sucrase-isomaltase deficiency
- p.Glu1158Gln Single submitter Inborn genetic diseases ⚠
- p.Glu1397= Single submitter congenital sucrase-isomaltase deficiency
- p.Gly1073Asp Single submitter Inborn genetic diseases ⚠
- p.Gly1302Ala Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Gly1760Asp Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Gly209= Single submitter congenital sucrase-isomaltase deficiency
- p.Gly407Arg Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Gly515Val Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.His1598Leu Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.His1773= Single submitter congenital sucrase-isomaltase deficiency
- p.Ile1378Ser Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Ile1756Val Single submitter Inborn genetic diseases ⚠
- p.Ile22Thr Single submitter SI-related disorder ⚠
- p.Ile389Asn Single submitter Inborn genetic diseases ⚠
- p.Ile41= Single submitter congenital sucrase-isomaltase deficiency
- p.Ile492Val Single submitter Inborn genetic diseases ⚠
- p.Ile799Val Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Leu212= Single submitter Inborn genetic diseases
- p.Leu321= Single submitter congenital sucrase-isomaltase deficiency
- p.Met1196fs Single submitter congenital sucrase-isomaltase deficiency
- p.Met119Leu Single submitter Inborn genetic diseases ⚠
- p.Phe1745Cys Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Phe213= Single submitter congenital sucrase-isomaltase deficiency
- p.Pro1140Ala Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Pro1324= Single submitter congenital sucrase-isomaltase deficiency
- p.Pro267= Single submitter congenital sucrase-isomaltase deficiency
- p.Pro348Leu Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Ser1795Leu Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Ser186Pro Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Thr1187Ile Single submitter Inborn genetic diseases ⚠
- p.Thr122Ala Single submitter Inborn genetic diseases ⚠
- p.Thr1258Ala Single submitter Inborn genetic diseases ⚠
- p.Thr1486= Single submitter congenital sucrase-isomaltase deficiency
- p.Thr1574Ser Single submitter Inborn genetic diseases ⚠
- p.Thr1606Ile Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Thr1767= Single submitter congenital sucrase-isomaltase deficiency
- p.Thr1788Met Single submitter Inborn genetic diseases ⚠
- p.Thr964= Single submitter congenital sucrase-isomaltase deficiency
- p.Trp105Cys Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Tyr1243= Single submitter congenital sucrase-isomaltase deficiency
- p.Tyr1417Ter Single submitter congenital sucrase-isomaltase deficiency
- p.Tyr1650= Single submitter congenital sucrase-isomaltase deficiency
- p.Tyr1789= Single submitter congenital sucrase-isomaltase deficiency
- p.Tyr275= Single submitter congenital sucrase-isomaltase deficiency
- p.Tyr975His Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Val1651Ile Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Val371Met Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Val452= Single submitter congenital sucrase-isomaltase deficiency
- p.Val577Gly Single submitter congenital sucrase-isomaltase deficiency ⚠
Benign 36
- c.1146+13A>C Multiple submitters congenital sucrase-isomaltase deficiency
- c.1512+25G>A Multiple submitters congenital sucrase-isomaltase deficiency
- c.2515+19C>T Multiple submitters
- c.3888+19C>T Multiple submitters congenital sucrase-isomaltase deficiency
- c.4842-4C>T Multiple submitters congenital sucrase-isomaltase deficiency
- c.4927-19C>T Multiple submitters
- c.5197+8C>T Multiple submitters congenital sucrase-isomaltase deficiency
- c.5198-17T>C Multiple submitters
- c.5198-20dup Multiple submitters congenital sucrase-isomaltase deficiency
- c.636-22_636-19del Multiple submitters congenital sucrase-isomaltase deficiency
- c.*68T>C Multiple submitters congenital sucrase-isomaltase deficiency
- p.Asn479= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Leu189= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Met1523Ile Multiple submitters congenital sucrase-isomaltase deficiency
- p.Phe1593= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Thr231Ala Multiple submitters congenital sucrase-isomaltase deficiency
- p.Val15Phe Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- c.1146+9A>G Single submitter
- c.1278+42_1278+43insAT Single submitter congenital sucrase-isomaltase deficiency
- c.1597+20C>T Single submitter
- c.1716-9del Single submitter
- c.3100-14C>T Single submitter
- c.3634-5dup Single submitter
- c.3889-3del Single submitter
- c.4180-19dup Single submitter
- c.5198-13del Single submitter
- c.5198-4A>G Single submitter
- c.5247+3A>T Single submitter
- c.*198G>T Single submitter congenital sucrase-isomaltase deficiency
- c.*426G>A Single submitter congenital sucrase-isomaltase deficiency
- p.Arg774Lys Single submitter
- p.Gly1514= Single submitter
- p.Pro1151= Single submitter
- p.Pro1568= Single submitter
- p.Tyr990= Single submitter
- p.Val473= Single submitter
Benign/Likely benign 26
- c.119-11dup Multiple submitters congenital sucrase-isomaltase deficiency
- c.2244+14G>A Multiple submitters congenital sucrase-isomaltase deficiency
- c.2301+20T>G Multiple submitters congenital sucrase-isomaltase deficiency
- c.2737-11del Multiple submitters congenital sucrase-isomaltase deficiency
- c.2737-12_2737-11del Multiple submitters congenital sucrase-isomaltase deficiency
- c.2737-23dup Multiple submitters congenital sucrase-isomaltase deficiency
- c.3634-5del Multiple submitters congenital sucrase-isomaltase deficiency
- c.374-11del Multiple submitters congenital sucrase-isomaltase deficiency
- c.374-11dup Multiple submitters congenital sucrase-isomaltase deficiency
- c.4268-14T>C Multiple submitters congenital sucrase-isomaltase deficiency
- c.4541-18T>G Multiple submitters congenital sucrase-isomaltase deficiency
- c.483+4C>T Multiple submitters congenital sucrase-isomaltase deficiency
- c.4841+9A>G Multiple submitters congenital sucrase-isomaltase deficiency
- p.Arg963= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Asn406= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Leu502= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Lys1473Arg Multiple submitters Inborn genetic diseases
- p.Pro173Ala Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ser200Gly Multiple submitters congenital sucrase-isomaltase deficiency
- p.Thr1342= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Thr1348= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Thr1425= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Thr1802Ser Multiple submitters congenital sucrase-isomaltase deficiency
- p.Thr231Ser Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Tyr781= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Val1667Ile Multiple submitters congenital sucrase-isomaltase deficiency
Likely benign 591
Showing the top 300 by review status; the full set is in the sitemap.
- c.1278+8T>G Multiple submitters congenital sucrase-isomaltase deficiency
- c.1887+8A>C Multiple submitters congenital sucrase-isomaltase deficiency
- c.2159+11C>T Multiple submitters congenital sucrase-isomaltase deficiency
- c.2737-17_2737-11del Multiple submitters congenital sucrase-isomaltase deficiency
- c.3099+20C>A Multiple submitters
- c.3423+10A>G Multiple submitters congenital sucrase-isomaltase deficiency
- c.3424-10C>T Multiple submitters congenital sucrase-isomaltase deficiency
- c.3634-14A>T Multiple submitters congenital sucrase-isomaltase deficiency
- c.3888+12G>A Multiple submitters congenital sucrase-isomaltase deficiency
- c.4000-15T>A Multiple submitters congenital sucrase-isomaltase deficiency
- c.4000-18A>G Multiple submitters congenital sucrase-isomaltase deficiency
- c.4062+18T>C Multiple submitters congenital sucrase-isomaltase deficiency
- c.4268-12G>C Multiple submitters congenital sucrase-isomaltase deficiency
- c.484-8C>G Multiple submitters congenital sucrase-isomaltase deficiency
- c.4927-10T>C Multiple submitters
- c.5108+16A>G Multiple submitters congenital sucrase-isomaltase deficiency
- c.5109-15A>C Multiple submitters congenital sucrase-isomaltase deficiency
- c.5198-7T>C Multiple submitters congenital sucrase-isomaltase deficiency
- c.807+8A>G Multiple submitters congenital sucrase-isomaltase deficiency
- p.Arg963Lys Multiple submitters Inborn genetic diseases
- p.Asp1244= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Asp1500= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Asp665= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Gln1749Lys Multiple submitters congenital sucrase-isomaltase deficiency
- p.Gly125= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Ile787= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Leu1156= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Leu1683= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Leu274= Multiple submitters
- p.Lys62= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Lys954= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Phe292= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Phe295= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Phe323= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Pro1200Ser Multiple submitters ⚠
- p.Pro1336= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Pro529= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Ser1795= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Thr317= Multiple submitters
- p.Thr877= Multiple submitters
- p.Tyr1221= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Tyr1233= Multiple submitters
- p.Tyr562= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Tyr907= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Val1667Leu Multiple submitters ⚠
- c.1020+11_1020+16del Single submitter
- c.1020+12G>A Single submitter
- c.1020+15T>G Single submitter
- c.1020+8T>G Single submitter
- c.1021-13C>T Single submitter
- c.1021-15C>A Single submitter
- c.1021-15C>T Single submitter
- c.1021-16G>A Single submitter
- c.1021-18A>T Single submitter
- c.1146+20C>A Single submitter
- c.1146+20C>T Single submitter
- c.1147-15T>A Single submitter
- c.1147-15T>C Single submitter
- c.1147-16A>T Single submitter
- c.1147-17A>G Single submitter
- c.1147-7C>T Single submitter
- c.118+19G>A Single submitter
- c.118+7A>G Single submitter
- c.119-15T>C Single submitter
- c.119-17G>A Single submitter
- c.119-6C>T Single submitter
- c.1278+11A>T Single submitter
- c.1278+13T>C Single submitter
- c.1278+20T>C Single submitter
- c.1279-18T>C Single submitter
- c.1279-6T>C Single submitter
- c.1398+16T>C Single submitter
- c.1398+20A>G Single submitter
- c.1398+8A>G Single submitter
- c.1399-10A>C Single submitter
- c.1399-13T>C Single submitter
- c.1512+10dup Single submitter
- c.1512+19C>G Single submitter
- c.1513-17A>T Single submitter
- c.1513-20T>C Single submitter
- c.1513-7C>T Single submitter
- c.1513-9T>C Single submitter
- c.1597+18A>G Single submitter
- c.1597+19T>C Single submitter
- c.1598-12A>T Single submitter
- c.1598-14G>A Single submitter
- c.1715+7G>C Single submitter
- c.1716-14G>T Single submitter
- c.1716-7T>C Single submitter
- c.1887+8A>T Single submitter
- c.1888-12T>A Single submitter
- c.1888-13A>G Single submitter
- c.1888-13A>T Single submitter
- c.1888-15A>G Single submitter
- c.1888-17A>G Single submitter
- c.2004+14G>T Single submitter
- c.2004+15T>C Single submitter
- c.2004+17C>T Single submitter
- c.2004+20C>T Single submitter
- c.2004+7G>A Single submitter
- c.2004+8C>G Single submitter
- c.2004+8C>T Single submitter
- c.2004+9C>G Single submitter
- c.2005-12T>A Single submitter
- c.2005-13_2005-10del Single submitter
- c.2005-13T>C Single submitter
- c.2005-15C>T Single submitter
- c.2005-7C>G Single submitter
- c.2005-9A>G Single submitter
- c.2159+12G>A Single submitter
- c.2159+16A>G Single submitter
- c.2159+17A>G Single submitter
- c.2159+18T>C Single submitter
- c.2160-3del Single submitter
- c.2244+14G>C Single submitter
- c.2244+14G>T Single submitter
- c.2244+9T>C Single submitter
- c.2245-13A>T Single submitter
- c.2245-14T>C Single submitter
- c.2301+10C>T Single submitter
- c.2301+11T>C Single submitter
- c.2301+16A>T Single submitter
- c.2301+9C>T Single submitter
- c.2302-13T>C Single submitter
- c.2302-4T>C Single submitter
- c.2302-7T>C Single submitter
- c.2426+16A>G Single submitter
- c.2427-14A>T Single submitter
- c.2427-17C>G Single submitter
- c.2427-17C>T Single submitter
- c.2427-19A>G Single submitter
- c.2515+17T>G Single submitter
- c.2515+18A>G Single submitter
- c.2515+20G>A Single submitter
- c.2515+20G>T Single submitter
- c.2516-15T>C Single submitter
- c.2516-17G>A Single submitter
- c.2516-18C>T Single submitter
- c.255+16C>G Single submitter
- c.256-11T>C Single submitter
- c.256-18T>C Single submitter
- c.256-19T>C Single submitter
- c.256-4T>C Single submitter
- c.256-5A>G Single submitter
- c.256-9T>C Single submitter
- c.2565+10C>T Single submitter
- c.2565+17T>C Single submitter
- c.2565+20A>C Single submitter
- c.2565+7A>G Single submitter
- c.2565+8C>T Single submitter
- c.2565+9T>C Single submitter
- c.2566-10T>C Single submitter
- c.2566-15T>C Single submitter
- c.2566-20T>C Single submitter
- c.2566-4T>C Single submitter
- c.2736+13T>C Single submitter
- c.2737-10G>A Single submitter
- c.2737-13T>G Single submitter
- c.2737-17_2737-16insC Single submitter
- c.2737-18_2737-17insC Single submitter
- c.2737-19_2737-11del Single submitter
- c.2737-19_2737-18insA Single submitter
- c.2737-19T>C Single submitter
- c.2737-20_2737-19insA Single submitter
- c.2737-24_2737-18del Single submitter
- c.2737-24_2737-19del Single submitter
- c.2737-6T>C Single submitter
- c.2737-8C>T Single submitter
- c.2737-9dup Single submitter
- c.2737-9T>C Single submitter
- c.2892+13T>C Single submitter
- c.2892+19A>G Single submitter
- c.2892+3AAT[2] Single submitter
- c.2892+7A>G Single submitter
- c.2892+8T>A Single submitter
- c.2893-8G>A Single submitter
- c.3099+9G>A Single submitter
- c.3100-20T>A Single submitter
- c.3100-6C>A Single submitter
- c.3254+14T>C Single submitter
- c.3254+17T>C Single submitter
- c.3255-13del Single submitter
- c.3255-20T>G Single submitter
- c.3255-8G>C Single submitter
- c.3423+12C>T Single submitter
- c.3423+13A>G Single submitter
- c.3423+15A>G Single submitter
- c.3423+16T>C Single submitter
- c.3424-19C>T Single submitter
- c.3424-6T>C Single submitter
- c.3424-9G>A Single submitter
- c.3520+10T>C Single submitter
- c.3520+19G>T Single submitter
- c.3520+9A>G Single submitter
- c.3521-12T>C Single submitter
- c.3521-5T>C Single submitter
- c.3633+10C>A Single submitter
- c.373+10C>A Single submitter
- c.373+10C>T Single submitter
- c.373+19T>A Single submitter
- c.373+19T>C Single submitter
- c.3759+10T>C Single submitter
- c.3759+7dup Single submitter
- c.3759+8T>C Single submitter
- c.3999+10C>T Single submitter
- c.3999+11G>A Single submitter
- c.3999+15_3999+18del Single submitter
- c.3999+15del Single submitter
- c.3999+15T>A Single submitter
- c.3999+15T>C Single submitter
- c.3999+18T>G Single submitter
- c.4000-14C>G Single submitter
- c.4000-20C>A Single submitter
- c.4000-4G>A Single submitter
- c.4000-6T>C Single submitter
- c.4000-8T>C Single submitter
- c.4000-9C>G Single submitter
- c.4062+13C>T Single submitter
- c.4062+14G>A Single submitter
- c.4062+18T>G Single submitter
- c.4063-10G>C Single submitter
- c.4063-15A>G Single submitter
- c.4063-17A>G Single submitter
- c.4180-13A>G Single submitter
- c.4180-15T>C Single submitter
- c.4180-17T>C Single submitter
- c.4180-19T>C Single submitter
- c.4180-8T>G Single submitter
- c.4180-9T>A Single submitter
- c.4267+14G>C Single submitter
- c.4268-12G>A Single submitter
- c.4268-15A>G Single submitter
- c.4268-17T>A Single submitter
- c.4268-7T>C Single submitter
- c.4268-8C>T Single submitter
- c.4406+10G>A Single submitter
- c.4406+15del Single submitter
- c.4406+17A>G Single submitter
- c.4406+18T>G Single submitter
- c.4406+8A>G Single submitter
- c.4407-10A>G Single submitter
- c.4407-17C>A Single submitter
- c.4407-19T>C Single submitter
- c.4407-20A>C Single submitter
- c.4407-4T>C Single submitter
- c.4407-5A>G Single submitter
- c.4407-8T>G Single submitter
- c.4540+10A>G Single submitter
- c.4540+10A>T Single submitter
- c.4540+15C>T Single submitter
- c.4540+17A>G Single submitter
- c.4541-11_4541-8del Single submitter
- c.4541-20A>G Single submitter
- c.4541-20del Single submitter
- c.4541-8T>G Single submitter
- c.4541-9C>T Single submitter
- c.4575+17C>T Single submitter
- c.4575+8G>C Single submitter
- c.4575+9T>C Single submitter
- c.4576-12A>G Single submitter
- c.4576-15A>G Single submitter
- c.4576-5T>C Single submitter
- c.4576-9A>G Single submitter
- c.4692+10T>G Single submitter
- c.4692+14A>G Single submitter
- c.4692+15C>T Single submitter
- c.4692+16A>C Single submitter
- c.4692+17T>G Single submitter
- c.4692+19T>A Single submitter
- c.4692+20A>C Single submitter
- c.4693-11C>T Single submitter
- c.4693-16T>C Single submitter
- c.483+15G>T Single submitter
- c.484-10A>C Single submitter
- c.484-15C>T Single submitter
- c.484-16G>A Single submitter
- c.484-19C>T Single submitter
- c.484-20C>G Single submitter
- c.484-20C>T Single submitter
- c.4841+16G>T Single submitter
- c.4842-13T>C Single submitter
- c.4842-3G>T Single submitter
- c.4926+12C>A Single submitter
- c.4927-19del Single submitter
- c.4927-8C>T Single submitter
- c.4983+13G>C Single submitter
- c.4983+15A>G Single submitter
- c.4983+18T>C Single submitter
- c.4983+8T>C Single submitter
- c.4984-14C>A Single submitter
- c.4984-17_4984-14del Single submitter
- c.5108+12G>A Single submitter
- c.5108+15T>A Single submitter
- c.5109-10T>C Single submitter
- c.5109-11C>A Single submitter
- c.5109-15A>G Single submitter
- c.5109-17A>G Single submitter
- c.5109-19A>G Single submitter
- c.5109-5del Single submitter
- c.5109-7C>A Single submitter
Uncertain significance 763
Showing the top 300 by review status; the full set is in the sitemap.
- c.1-15C>A Multiple submitters congenital sucrase-isomaltase deficiency
- c.1513-3C>A Multiple submitters congenital sucrase-isomaltase deficiency
- c.3423+3A>G Multiple submitters congenital sucrase-isomaltase deficiency
- c.4842-3G>A Multiple submitters congenital sucrase-isomaltase deficiency
- c.5109-3T>C Multiple submitters congenital sucrase-isomaltase deficiency
- c.807+4A>G Multiple submitters congenital sucrase-isomaltase deficiency
- p.Ala1299Glu Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ala1569Thr Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ala1654Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala2Glu Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ala404Val Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ala429Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala567Thr Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ala573Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala599Val Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ala760Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala808Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala819Thr Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg1019Cys Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg1019His Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg1078Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1078Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1079Ile Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg1105Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1124Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1136Ser Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg1186Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1484His Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg1492Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1544Cys Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg1655Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1655Trp Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg1686His Multiple submitters Inborn genetic diseases ⚠
- p.Arg232His Multiple submitters Inborn genetic diseases ⚠
- p.Arg250Cys Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg250His Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg263Gln Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg3Ile Multiple submitters Inborn genetic diseases ⚠
- p.Arg435Cys Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg52Cys Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg588Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg648Lys Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg692Cys Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg777Trp Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg810His Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Arg989His Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Asn144Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn1653Ser Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Asn406Thr Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Asn523His Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Asn932Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp1064Asn Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Asp1174Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp1617His Multiple submitters Inborn genetic diseases ⚠
- p.Asp390Gly Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Asp401Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp557Asn Multiple submitters SI-related disorder ⚠
- p.Asp633Asn Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Asp69Glu Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Asp731His Multiple submitters Inborn genetic diseases ⚠
- p.Asp839Glu Multiple submitters Inborn genetic diseases ⚠
- p.Cys955Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Gln1098Pro Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Gln1276Arg Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Gln677Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gln912His Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Gln933Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu1066Gly Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Glu1159Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu1414Gln Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Glu445Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu640Gly Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Glu894Gly Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Gly1141Ser Multiple submitters ⚠
- p.Gly1289Arg Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Gly1476Ala Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Gly1760Val Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Gly1778Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly218Val Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Gly276Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly293Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly318Ser Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Gly447Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly553Ser Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Gly788Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly794Ser Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Gly959Cys Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Gly965Asp Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.His1684Gln Multiple submitters ⚠
- p.His251Leu Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.His790Arg Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ile1111Val Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ile124Thr Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ile1285Thr Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ile1343Thr Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ile1443Thr Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ile1480Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile1756Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile1822Val Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ile204Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile204Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile260Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile306Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile432Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile464Thr Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ile616Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu353Ile Multiple submitters Inborn genetic diseases ⚠
- p.Lys1026Glu Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Lys1033= Multiple submitters congenital sucrase-isomaltase deficiency
- p.Lys1385Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys193Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys369Arg Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Lys827Glu Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Met1515Val Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Met1Ile Multiple submitters congenital sucrase-isomaltase deficiency
- p.Met539Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met539Thr Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Met780Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe108Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe1194Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Phe1281Leu Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Phe139Leu Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Phe1401Leu Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Phe1625Val Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Phe1798Cys Multiple submitters Inborn genetic diseases ⚠
- p.Phe280Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1071Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro1363Ser Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Pro1466Thr Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Pro173Ser Multiple submitters ⚠
- p.Pro381Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro480Thr Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Pro657Ser Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ser1080Arg Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ser1081Asn Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ser1400Asn Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ser1490Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser299Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser42Arg Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ser460Cys Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Ser565Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser60Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser967Phe Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Thr1052Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr1120Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr1135Ile Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Thr1176Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr1180Ala Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Thr1206Ala Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Thr1305Ile Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Thr1307Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr1326Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr1326Ile Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Thr1405Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr154Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr1606Ser Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Thr1751Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr1767Met Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Thr184Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr188Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr531Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr54Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr732Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr871Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr951Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr964Met Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Trp1331Leu Multiple submitters Inborn genetic diseases ⚠
- p.Trp552Arg Multiple submitters Inborn genetic diseases ⚠
- p.Trp609Arg Multiple submitters Inborn genetic diseases ⚠
- p.Tyr1502Cys Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Tyr1587Asn Multiple submitters Inborn genetic diseases ⚠
- p.Tyr391Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr474His Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Tyr540Cys Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Tyr781Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr867His Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Tyr867Ser Multiple submitters Inborn genetic diseases ⚠
- p.Val1022Met Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Val109Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val1188Ile Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Val1319Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val1334Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val1379Met Multiple submitters Inborn genetic diseases ⚠
- p.Val1774Ile Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Val194Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val203Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val20Asp Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Val38Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val509Ala Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Val717Asp Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- p.Val913Phe Multiple submitters congenital sucrase-isomaltase deficiency ⚠
- c.1020+6T>C Single submitter
- c.1021-3A>G Single submitter
- c.1021-7C>G Single submitter congenital sucrase-isomaltase deficiency
- c.1147-13T>A Single submitter congenital sucrase-isomaltase deficiency
- c.118+5G>T Single submitter
- c.118+6T>C Single submitter congenital sucrase-isomaltase deficiency
- c.1278+6_1278+8del Single submitter congenital sucrase-isomaltase deficiency
- c.1399-402_1513-1189dup Single submitter congenital sucrase-isomaltase deficiency
- c.1597+4A>G Single submitter
- c.1598-7C>G Single submitter
- c.1715+14C>A Single submitter congenital sucrase-isomaltase deficiency
- c.1716-3T>C Single submitter
- c.2005-3C>A Single submitter congenital sucrase-isomaltase deficiency
- c.2005-3C>T Single submitter
- c.2159+5G>C Single submitter congenital sucrase-isomaltase deficiency
- c.2160-15T>G Single submitter congenital sucrase-isomaltase deficiency
- c.255+2424A>C Single submitter
- c.2736+5_2736+6insTAAAGCCAAAAGCAAACAAGGATTGCTGCAAATTCCACAATGGCACATTGTGAGAAAGGCCAACTGATTTTCAGGATTGGTGACCTGGACCAGGTTAGCTGCTCCAGAGAGTTCCATACAGGCTGGGCCACCCTTGGGGCAACCAGCC Single submitter
- c.3100-4A>G Single submitter
- c.3255-3C>T Single submitter
- c.3423+9C>G Single submitter
- c.3633+5G>A Single submitter
- c.374-7_374-4del Single submitter congenital sucrase-isomaltase deficiency
- c.4179+3A>G Single submitter
- c.4267+4C>A Single submitter
- c.4267+9T>C Single submitter congenital sucrase-isomaltase deficiency
- c.4406+39T>G Single submitter
- c.4406+4A>G Single submitter
- c.4575+4A>G Single submitter congenital sucrase-isomaltase deficiency
- c.4692+4T>A Single submitter congenital sucrase-isomaltase deficiency
- c.4692+4T>C Single submitter
- c.4692+6T>C Single submitter
- c.4693-3C>G Single submitter
- c.483+5G>C Single submitter
- c.483+8T>G Single submitter congenital sucrase-isomaltase deficiency
- c.4841+15T>A Single submitter congenital sucrase-isomaltase deficiency
- c.4841+5G>A Single submitter
- c.4841+5G>C Single submitter
- c.4926+3A>G Single submitter
- c.5247+5G>A Single submitter
- c.807+6A>G Single submitter
- c.808-16A>G Single submitter
- c.*121C>T Single submitter congenital sucrase-isomaltase deficiency
- c.*151A>G Single submitter congenital sucrase-isomaltase deficiency
- c.*217A>C Single submitter congenital sucrase-isomaltase deficiency
- c.*229T>C Single submitter congenital sucrase-isomaltase deficiency
- c.*473G>A Single submitter congenital sucrase-isomaltase deficiency
- p.Ala1004Glu Single submitter Inborn genetic diseases ⚠
- p.Ala1155Ser Single submitter ⚠
- p.Ala1155Thr Single submitter ⚠
- p.Ala1162Gly Single submitter ⚠
- p.Ala1223Ser Single submitter ⚠
- p.Ala1245Asp Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Ala1245Thr Single submitter ⚠
- p.Ala1245Val Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Ala1248Thr Single submitter ⚠
- p.Ala1248Val Single submitter ⚠
- p.Ala1274Thr Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Ala128Thr Single submitter ⚠
- p.Ala1332Glu Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Ala1332Thr Single submitter ⚠
- p.Ala1358Thr Single submitter ⚠
- p.Ala1503Val Single submitter ⚠
- p.Ala1561Gly Single submitter Inborn genetic diseases ⚠
- p.Ala1576Val Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Ala1602Ser Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Ala24Thr Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Ala26Asp Single submitter ⚠
- p.Ala32Thr Single submitter ⚠
- p.Ala404Gly Single submitter ⚠
- p.Ala436Thr Single submitter ⚠
- p.Ala598Gly Single submitter ⚠
- p.Ala599Ser Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Ala639Val Single submitter ⚠
- p.Ala706Val Single submitter ⚠
- p.Ala769Thr Single submitter ⚠
- p.Ala784Thr Single submitter ⚠
- p.Ala826Asp Single submitter ⚠
- p.Ala950Glu Single submitter Inborn genetic diseases ⚠
- p.Ala971Thr Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Arg1041= Single submitter congenital sucrase-isomaltase deficiency
- p.Arg1061Thr Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Arg1077Gln Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Arg1186His Single submitter Inborn genetic diseases ⚠
- p.Arg1186Leu Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Arg1230Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1240Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1291Lys Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Arg1376Thr Single submitter ⚠
- p.Arg1484Cys Single submitter ⚠
- p.Arg1544Ser Single submitter ⚠
- p.Arg1564Thr Single submitter ⚠
- p.Arg157Gly Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Arg1655Leu Single submitter ⚠
- p.Arg1686Cys Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Arg1737Gly Single submitter ⚠
- p.Arg1808Cys Single submitter ⚠
- p.Arg315Ser Single submitter ⚠
- p.Arg376Gln Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Arg376Trp Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Arg435His Single submitter ⚠
- p.Arg582Lys Single submitter ⚠
- p.Arg588His Single submitter ⚠
- p.Arg596Ser Single submitter Inborn genetic diseases ⚠
- p.Arg692His Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Arg777Gln Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Arg810Ser Single submitter congenital sucrase-isomaltase deficiency ⚠
- p.Arg891Ser Single submitter Inborn genetic diseases ⚠
- p.Arg958His Single submitter ⚠