Sugi Variant

Sugi Variant/IQSEC2

IQSEC2 — 1464 ClinVar variants

All ClinVar germline IQSEC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 579 flagged for review →

153 Pathogenic · 9 Pathogenic/Likely pathogenic · 72 Likely pathogenic · 80 Conflicting · 72 Benign · 51 Benign/Likely benign · 444 Likely benign · 583 Uncertain significance

Full IQSEC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 579

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 46

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

Predictors lean, ClinVar uncertain 405

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 405

Predictors split 127

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

All IQSEC2 variants

Pathogenic 153

  • c.2459+21C>T Multiple submitters intellectual disability, X-linked 1
  • c.2889+1G>A Multiple submitters intellectual disability, X-linked 1
  • p.Ala286fs Multiple submitters Inborn genetic diseases
  • p.Arg1055Ter Multiple submitters paraplegia-intellectual disability-hyperkeratosis syndrome
  • p.Arg1145Ter Multiple submitters intellectual disability, X-linked 1
  • p.Arg758Ter Multiple submitters Inborn genetic diseases
  • p.Arg855Ter Multiple submitters IQSEC2-related disorder
  • p.Arg904Ter Multiple submitters intellectual disability, X-linked 1
  • p.Arg926Ter Multiple submitters intellectual disability, X-linked 1
  • p.Gly283fs Multiple submitters intellectual disability, X-linked 1
  • p.Lys469fs Multiple submitters intellectual disability
  • p.Pro285fs Multiple submitters intellectual disability, X-linked 1
  • p.Pro529fs Multiple submitters intellectual disability, X-linked 1
  • p.Pro559fs Multiple submitters intellectual disability, X-linked 1
  • p.Ser277fs Multiple submitters intellectual disability, X-linked 1
  • p.Trp546Ter Multiple submitters intellectual disability, X-linked 1
  • p.Tyr269fs Multiple submitters Inborn genetic diseases
  • c.1401+1G>A Single submitter
  • c.2297+1G>A Single submitter
  • c.2582+2T>C Single submitter intellectual disability, X-linked 1
  • c.2749+1G>A Single submitter
  • c.3016-1dup Single submitter
  • c.3016-1G>T Single submitter intellectual disability, X-linked 1
  • c.3116-3_3116-2del Single submitter intellectual disability, X-linked 1
  • c.3452-1G>A Single submitter intellectual disability, X-linked 1
  • c.3452-2A>T Single submitter NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH POOR OR ABSENT SPEECH AND BEHAVIORAL ABNORMALITIES
  • c.3501+1G>A Single submitter intellectual disability, X-linked 1
  • c.3502-2del Single submitter
  • p.Ala19fs Single submitter intellectual disability, X-linked 1
  • p.Ala296fs Single submitter
  • p.Ala350fs Single submitter intellectual disability, X-linked 1
  • p.Ala417fs Single submitter intellectual disability, X-linked 1
  • p.Ala676fs Single submitter intellectual disability, X-linked 1
  • p.Arg1196fs Single submitter intellectual disability, X-linked 1
  • p.Arg1344fs Single submitter
  • p.Arg235fs Single submitter intellectual disability, X-linked 1
  • p.Arg369Trp Single submitter
  • p.Arg617fs Single submitter intellectual disability, X-linked 1
  • p.Arg935Cys Single submitter
  • p.Arg942fs Single submitter intellectual disability, X-linked 1
  • p.Arg995fs Single submitter
  • p.Asn1471fs Single submitter intellectual disability, X-linked 1
  • p.Asp605fs Single submitter intellectual disability, X-linked 1
  • p.Asp894Tyr Single submitter
  • p.Cys684_Glu685delinsTer Single submitter Inborn genetic diseases
  • p.Cys684Ter Single submitter
  • p.Gln1033Ter Single submitter intellectual disability
  • p.Gln1084Ter Single submitter
  • p.Gln1108fs Single submitter intellectual disability, X-linked 1
  • p.Gln1108Ter Single submitter IQSEC2-related disorder
  • p.Gln1227Ter Single submitter
  • p.Gln1261Ter Single submitter intellectual disability, X-linked 1
  • p.Gln1286Ter Single submitter
  • p.Gln1422fs Single submitter undetermined early-onset epileptic encephalopathy
  • p.Gln142Ter Single submitter intellectual disability, X-linked 1
  • p.Gln156Ter Single submitter intellectual disability, X-linked 1
  • p.Gln294Ter Single submitter Inborn genetic diseases
  • p.Gln299Ter Single submitter IQSEC2-related disorder
  • p.Gln330Ter Single submitter intellectual disability, X-linked 1
  • p.Gln360fs Single submitter intellectual disability, X-linked 1
  • p.Gln467Ter Single submitter
  • p.Gln495Ter Single submitter intellectual disability, X-linked 1
  • p.Gln504fs Single submitter
  • p.Gln505Ter Single submitter intellectual disability, X-linked 1
  • p.Gln526Ter Single submitter intellectual disability, X-linked 1
  • p.Gln527Ter Single submitter intellectual disability, X-linked 1
  • p.Gln53Ter Single submitter intellectual disability, X-linked 1
  • p.Gln735Ter Single submitter
  • p.Gln950Ter Single submitter intellectual disability, X-linked 1
  • p.Glu1085fs Single submitter intellectual disability, X-linked 1
  • p.Glu1167Ter Single submitter
  • p.Glu183Ter Single submitter intellectual disability, X-linked 1
  • p.Glu396Ter Single submitter intellectual disability, X-linked 1
  • p.Glu477Ter Single submitter intellectual disability, X-linked 1
  • p.Glu500Ter Single submitter intellectual disability, X-linked 1
  • p.Glu503fs Single submitter intellectual disability, X-linked 1
  • p.Glu506fs Single submitter intellectual disability, X-linked 1
  • p.Glu544Ter Single submitter intellectual disability, X-linked 1
  • p.Glu700Ter Single submitter
  • p.Glu723Ter Single submitter intellectual disability, X-linked 1
  • p.Glu769Ter Single submitter intellectual disability, X-linked 1
  • p.Glu777Ter Single submitter
  • p.Glu794Ter Single submitter intellectual disability, X-linked 1
  • p.Glu996fs Single submitter intellectual disability, X-linked 1
  • p.Gly1349fs Single submitter intellectual disability, X-linked 1
  • p.Gly1407fs Single submitter intellectual disability, X-linked 1
  • p.Gly1412fs Single submitter IQSEC2-related disorder
  • p.Gly181fs Single submitter intellectual disability, X-linked 1
  • p.Gly220fs Single submitter intellectual disability, X-linked 1
  • p.Gly343fs Single submitter intellectual disability, X-linked 1
  • p.Gly5fs Single submitter
  • p.Gly674fs Single submitter
  • p.Gly693fs Single submitter Inborn genetic diseases
  • p.Gly779fs Single submitter intellectual disability, X-linked 1
  • p.Gly808fs Single submitter intellectual disability, X-linked 1
  • p.His1240fs Single submitter
  • p.His1325fs Single submitter intellectual disability, X-linked 1
  • p.His947fs Single submitter intellectual disability, X-linked 1
  • p.His99fs Single submitter
  • p.Ile1080fs Single submitter intellectual disability, X-linked 1
  • p.Ile313fs Single submitter intellectual disability, X-linked 1
  • p.Ile643fs Single submitter
  • p.Ile883fs Single submitter
  • p.Leu1205fs Single submitter intellectual disability, X-linked 1
  • p.Leu518fs Single submitter intellectual disability, X-linked 1
  • p.Leu551fs Single submitter intellectual disability, X-linked 1
  • p.Lys1097fs Single submitter IQSEC2-related disorder
  • p.Lys236fs Single submitter intellectual disability, X-linked 1
  • p.Met826Thr Single submitter intellectual disability, X-linked 1
  • p.Met895fs Single submitter intellectual disability, X-linked 1
  • p.Phe1025fs Single submitter intellectual disability, X-linked 1
  • p.Phe1061Ser Single submitter intellectual disability, X-linked 1
  • p.Phe107fs Single submitter Inborn genetic diseases
  • p.Phe1204fs Single submitter intellectual disability, X-linked 1
  • p.Phe764fs Single submitter
  • p.Phe780fs Single submitter intellectual disability, X-linked 1
  • p.Pro1293fs Single submitter intellectual disability, X-linked 1
  • p.Pro1298fs Single submitter Seizure
  • p.Pro1406fs Single submitter intellectual disability, X-linked 1
  • p.Pro1445fs Single submitter intellectual disability, X-linked 1
  • p.Pro539fs Single submitter Neurodevelopmental delay
  • p.Pro543fs Single submitter intellectual disability, X-linked 1
  • p.Pro642fs Single submitter intellectual disability, X-linked 1
  • p.Pro656fs Single submitter intellectual disability, X-linked 1
  • p.Pro785fs Single submitter intellectual disability, X-linked 1
  • p.Pro8fs Single submitter intellectual disability, X-linked 1
  • p.Ser1024fs Single submitter intellectual disability, X-linked 1
  • p.Ser1065fs Single submitter intellectual disability
  • p.Ser1093Trp Single submitter intellectual disability, X-linked 1 ⚠
  • p.Ser1172fs Single submitter
  • p.Ser1250delinsArgTer Single submitter IQSEC2-related disorder
  • p.Ser1474fs Single submitter intellectual disability, X-linked 1
  • p.Ser210fs Single submitter intellectual disability, X-linked 1
  • p.Ser302fs Single submitter intellectual disability, X-linked 1
  • p.Ser627fs Single submitter
  • p.Ser861Thr Single submitter Inborn genetic diseases
  • p.Thr356fs Single submitter intellectual disability, X-linked 1
  • p.Thr943delinsAlaTer Single submitter Seizure
  • p.Trp742Ter Single submitter intellectual disability, X-linked 1
  • p.Tyr1129fs Single submitter intellectual disability, X-linked 1
  • p.Tyr1129Ter Single submitter intellectual disability, X-linked 1
  • p.Tyr1437fs Single submitter intellectual disability, X-linked 1
  • p.Tyr269Ter Single submitter
  • p.Tyr432Ter Single submitter intellectual disability, X-linked 1
  • p.Tyr621Ter Single submitter
  • p.Val288fs Single submitter intellectual disability, X-linked 1
  • c.123-2226_*20117dup No assertion criteria NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH POOR OR ABSENT SPEECH AND BEHAVIORAL ABNORMALITIES
  • p.Ala350Val No assertion criteria NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH POOR OR ABSENT SPEECH AND BEHAVIORAL ABNORMALITIES
  • p.Ala789Val No assertion criteria intellectual disability, X-linked 1
  • p.Arg758Gln No assertion criteria intellectual disability, X-linked 1
  • p.Gln33Ter No assertion criteria NEURODEVELOPMENTAL DISORDER, X-LINKED, WITH POOR OR ABSENT SPEECH AND BEHAVIORAL ABNORMALITIES
  • p.Gln801Pro No assertion criteria intellectual disability, X-linked 1
  • p.Tyr89Ter No assertion criteria intellectual disability, X-linked 1

Pathogenic/Likely pathogenic 9

  • p.Ala836Val Multiple submitters intellectual disability, X-linked 1
  • p.Arg531Ter Multiple submitters Inborn genetic diseases
  • p.Arg971Ter Multiple submitters intellectual disability, X-linked 1
  • p.Arg995Gln Multiple submitters intellectual disability, X-linked 1
  • p.Arg995Trp Multiple submitters intellectual disability, X-linked 1
  • p.Gln1036Ter Multiple submitters IQSEC2-related disorder
  • p.Lys1480fs Multiple submitters IQSEC2-related disorder
  • p.Pro1292fs Multiple submitters intellectual disability, X-linked 1
  • p.Pro1442fs Multiple submitters intellectual disability, X-linked 1

Likely pathogenic 72

Conflicting classifications of pathogenicity 80

Benign 72

Benign/Likely benign 51

  • c.1401+7A>G Multiple submitters intellectual disability, X-linked 1
  • c.1402-10C>A Multiple submitters intellectual disability, X-linked 1
  • c.1402-11C>A Multiple submitters intellectual disability, X-linked 1
  • c.1402-11C>G Multiple submitters intellectual disability, X-linked 1
  • c.1402-15dup Multiple submitters intellectual disability, X-linked 1
  • c.1402-9del Multiple submitters intellectual disability, X-linked 1
  • c.2297+4C>T Multiple submitters intellectual disability, X-linked 1
  • c.2582+11C>A Multiple submitters intellectual disability, X-linked 1
  • c.2582+4T>G Multiple submitters intellectual disability, X-linked 1
  • c.3015+14G>C Multiple submitters intellectual disability, X-linked 1
  • c.3015+9A>G Multiple submitters intellectual disability, X-linked 1
  • c.3116-19G>A Multiple submitters intellectual disability, X-linked 1
  • c.3277+18G>A Multiple submitters intellectual disability, X-linked 1
  • c.3278-13G>C Multiple submitters intellectual disability, X-linked 1
  • p.Ala1470Thr Multiple submitters Inborn genetic diseases
  • p.Arg531Pro Multiple submitters intellectual disability, X-linked 1
  • p.Arg754= Multiple submitters intellectual disability, X-linked 1
  • p.Arg755= Multiple submitters intellectual disability, X-linked 1
  • p.Arg778Gln Multiple submitters intellectual disability, X-linked 1 ⚠
  • p.Asn28= Multiple submitters intellectual disability, X-linked 1
  • p.Asp817= Multiple submitters intellectual disability, X-linked 1
  • p.Cys684= Multiple submitters intellectual disability, X-linked 1
  • p.Gln109Arg Multiple submitters Inborn genetic diseases
  • p.Gln977= Multiple submitters intellectual disability, X-linked 1
  • p.Glu500Gln Multiple submitters Inborn genetic diseases
  • p.Glu622= Multiple submitters intellectual disability, X-linked 1
  • p.Glu63Gly Multiple submitters Inborn genetic diseases
  • p.Gly1053= Multiple submitters intellectual disability, X-linked 1
  • p.Gly115Cys Multiple submitters intellectual disability, X-linked 1
  • p.Gly193Ala Multiple submitters Inborn genetic diseases
  • p.Gly669= Multiple submitters intellectual disability, X-linked 1
  • p.His1244Tyr Multiple submitters intellectual disability, X-linked 1 ⚠
  • p.His1251= Multiple submitters intellectual disability, X-linked 1
  • p.Ile857= Multiple submitters intellectual disability, X-linked 1
  • p.Leu1368= Multiple submitters Inborn genetic diseases
  • p.Leu72= Multiple submitters Inborn genetic diseases
  • p.Phe392= Multiple submitters intellectual disability, X-linked 1
  • p.Pro1181Ser Multiple submitters intellectual disability, X-linked 1
  • p.Pro1185= Multiple submitters intellectual disability, X-linked 1
  • p.Pro483= Multiple submitters Inborn genetic diseases
  • p.Pro553Gln Multiple submitters intellectual disability, X-linked 1
  • p.Pro576= Multiple submitters intellectual disability, X-linked 1
  • p.Pro725= Multiple submitters intellectual disability, X-linked 1
  • p.Pro725Leu Multiple submitters Inborn genetic diseases
  • p.Pro984= Multiple submitters intellectual disability, X-linked 1
  • p.Ser949= Multiple submitters intellectual disability, X-linked 1
  • p.Thr1119Met Multiple submitters Inborn genetic diseases
  • p.Thr145= Multiple submitters intellectual disability, X-linked 1
  • p.Tyr1129= Multiple submitters intellectual disability, X-linked 1
  • p.Tyr648= Multiple submitters intellectual disability, X-linked 1
  • p.Tyr979= Multiple submitters Inborn genetic diseases

Likely benign 444

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

  • c.1000-17C>G Multiple submitters intellectual disability, X-linked 1
  • c.1401+36C>T Multiple submitters
  • c.1402-11C>T Multiple submitters intellectual disability, X-linked 1
  • c.2297+13C>T Multiple submitters intellectual disability, X-linked 1
  • c.2297+7G>A Multiple submitters intellectual disability, X-linked 1
  • c.2459+19G>A Multiple submitters intellectual disability, X-linked 1
  • c.2582+19C>T Multiple submitters intellectual disability, X-linked 1
  • c.2582+20G>A Multiple submitters intellectual disability, X-linked 1
  • c.2750-9C>T Multiple submitters intellectual disability, X-linked 1
  • c.2889+10T>C Multiple submitters intellectual disability, X-linked 1
  • c.2890-6G>A Multiple submitters intellectual disability, X-linked 1
  • c.3278-14C>T Multiple submitters intellectual disability, X-linked 1
  • c.3452-46G>C Multiple submitters
  • c.3502-15C>T Multiple submitters intellectual disability, X-linked 1
  • c.3502-8G>A Multiple submitters intellectual disability, X-linked 1
  • c.737+10291G>A Multiple submitters intellectual disability, X-linked 1
  • c.737+10705T>C Multiple submitters
  • c.738-7C>T Multiple submitters intellectual disability, X-linked 1
  • c.999+11G>A Multiple submitters intellectual disability, X-linked 1
  • p.Ala1081= Multiple submitters intellectual disability, X-linked 1
  • p.Ala1313= Multiple submitters Inborn genetic diseases
  • p.Ala1402= Multiple submitters intellectual disability, X-linked 1
  • p.Ala1402Thr Multiple submitters intellectual disability, X-linked 1
  • p.Ala191= Multiple submitters intellectual disability, X-linked 1
  • p.Ala259= Multiple submitters Inborn genetic diseases
  • p.Ala746= Multiple submitters intellectual disability, X-linked 1
  • p.Arg135= Multiple submitters intellectual disability, X-linked 1
  • p.Arg425= Multiple submitters intellectual disability, X-linked 1
  • p.Arg568= Multiple submitters Inborn genetic diseases
  • p.Asn1105Ser Multiple submitters intellectual disability, X-linked 1
  • p.Asp476= Multiple submitters Inborn genetic diseases
  • p.Gln40= Multiple submitters intellectual disability, X-linked 1
  • p.Gly342= Multiple submitters intellectual disability, X-linked 1
  • p.Gly78= Multiple submitters intellectual disability, X-linked 1
  • p.His1333= Multiple submitters intellectual disability, X-linked 1
  • p.His843= Multiple submitters intellectual disability, X-linked 1
  • p.Ile709= Multiple submitters intellectual disability, X-linked 1
  • p.Ile776= Multiple submitters intellectual disability, X-linked 1
  • p.Leu1290= Multiple submitters intellectual disability, X-linked 1
  • p.Leu1370= Multiple submitters intellectual disability, X-linked 1
  • p.Leu233= Multiple submitters intellectual disability, X-linked 1
  • p.Leu329= Multiple submitters Inborn genetic diseases
  • p.Leu775= Multiple submitters Inborn genetic diseases
  • p.Lys498= Multiple submitters intellectual disability, X-linked 1
  • p.Lys498Glu Multiple submitters intellectual disability, X-linked 1
  • p.Pro1223= Multiple submitters Inborn genetic diseases
  • p.Pro1275= Multiple submitters intellectual disability, X-linked 1
  • p.Pro1280= Multiple submitters Inborn genetic diseases
  • p.Pro1310= Multiple submitters intellectual disability, X-linked 1
  • p.Pro1355Ser Multiple submitters intellectual disability, X-linked 1
  • p.Pro1439= Multiple submitters intellectual disability, X-linked 1
  • p.Pro1445= Multiple submitters intellectual disability, X-linked 1
  • p.Pro1473= Multiple submitters intellectual disability, X-linked 1
  • p.Pro177= Multiple submitters Inborn genetic diseases
  • p.Pro199= Multiple submitters intellectual disability, X-linked 1
  • p.Pro543= Multiple submitters intellectual disability, X-linked 1
  • p.Pro8= Multiple submitters Inborn genetic diseases
  • p.Ser1366= Multiple submitters intellectual disability, X-linked 1
  • p.Ser279= Multiple submitters intellectual disability, X-linked 1
  • p.Ser603= Multiple submitters intellectual disability, X-linked 1
  • p.Ser744= Multiple submitters intellectual disability, X-linked 1
  • p.Thr1119= Multiple submitters intellectual disability, X-linked 1
  • p.Thr225= Multiple submitters intellectual disability, X-linked 1
  • p.Tyr1415= Multiple submitters intellectual disability, X-linked 1
  • p.Val447= Multiple submitters intellectual disability, X-linked 1
  • p.Val447Ile Multiple submitters intellectual disability, X-linked 1
  • c.1000-10T>C Single submitter intellectual disability, X-linked 1
  • c.1000-12del Single submitter intellectual disability, X-linked 1
  • c.1000-9C>T Single submitter intellectual disability, X-linked 1
  • c.1401+13G>T Single submitter
  • c.1401+8T>C Single submitter intellectual disability, X-linked 1
  • c.1402-12C>G Single submitter intellectual disability, X-linked 1
  • c.1402-13C>G Single submitter intellectual disability, X-linked 1
  • c.1402-14C>T Single submitter intellectual disability, X-linked 1
  • c.1402-18C>T Single submitter intellectual disability, X-linked 1
  • c.2297+11C>G Single submitter intellectual disability, X-linked 1
  • c.2298-10C>T Single submitter
  • c.2298-19A>G Single submitter intellectual disability, X-linked 1
  • c.2459+16T>C Single submitter intellectual disability, X-linked 1
  • c.2459+6G>A Single submitter intellectual disability, X-linked 1
  • c.2459+8C>A Single submitter intellectual disability, X-linked 1
  • c.2460-15T>C Single submitter intellectual disability, X-linked 1
  • c.2582+19_2582+29delCGCGAAGCTGCins64 Single submitter
  • c.2583-10T>C Single submitter intellectual disability, X-linked 1
  • c.2583-13T>C Single submitter intellectual disability, X-linked 1
  • c.2583-234G>T Single submitter
  • c.2583-296C>G Single submitter
  • c.2583-6C>T Single submitter intellectual disability, X-linked 1
  • c.2750-332T>C Single submitter
  • c.2750-7C>T Single submitter intellectual disability, X-linked 1
  • c.2889+20G>T Single submitter intellectual disability, X-linked 1
  • c.2890-13C>T Single submitter intellectual disability, X-linked 1
  • c.2890-213A>G Single submitter
  • c.2890-8C>T Single submitter intellectual disability, X-linked 1
  • c.2890-9C>T Single submitter intellectual disability, X-linked 1
  • c.3015+10_3015+16del Single submitter intellectual disability, X-linked 1
  • c.3015+12G>T Single submitter intellectual disability, X-linked 1
  • c.3015+14G>A Single submitter intellectual disability, X-linked 1
  • c.3015+15G>A Single submitter intellectual disability, X-linked 1
  • c.3015+7_3015+8insATC Single submitter intellectual disability, X-linked 1
  • c.3015+7G>A Single submitter intellectual disability, X-linked 1
  • c.3016-105T>C Single submitter
  • c.3016-242A>G Single submitter
  • c.3016-9C>G Single submitter intellectual disability, X-linked 1
  • c.3115+13T>C Single submitter intellectual disability, X-linked 1
  • c.3115+20C>T Single submitter intellectual disability, X-linked 1
  • c.3116-310C>T Single submitter
  • c.3116-4A>T Single submitter intellectual disability, X-linked 1
  • c.3116-6C>G Single submitter intellectual disability, X-linked 1
  • c.3277+15C>T Single submitter
  • c.3278-10T>C Single submitter intellectual disability, X-linked 1
  • c.3278-13G>A Single submitter intellectual disability, X-linked 1
  • c.3278-17C>T Single submitter intellectual disability, X-linked 1
  • c.3451+18C>T Single submitter intellectual disability, X-linked 1
  • c.3452-163_3452-161del Single submitter
  • c.3452-17C>T Single submitter intellectual disability, X-linked 1
  • c.3452-40del Single submitter
  • c.3452-4G>A Single submitter intellectual disability, X-linked 1
  • c.3452-9T>C Single submitter intellectual disability, X-linked 1
  • c.3501+14C>G Single submitter intellectual disability, X-linked 1
  • c.3501+20C>T Single submitter intellectual disability, X-linked 1
  • c.3501+7G>T Single submitter intellectual disability, X-linked 1
  • c.3501+9C>T Single submitter intellectual disability, X-linked 1
  • c.3502-12C>T Single submitter intellectual disability, X-linked 1
  • c.3502-14C>A Single submitter intellectual disability, X-linked 1
  • c.3502-15C>G Single submitter intellectual disability, X-linked 1
  • c.3502-19C>A Single submitter intellectual disability, X-linked 1
  • c.3502-9C>T Single submitter intellectual disability, X-linked 1
  • c.707+12G>T Single submitter intellectual disability, X-linked 1
  • c.708-13G>A Single submitter intellectual disability, X-linked 1
  • c.708-16T>C Single submitter intellectual disability, X-linked 1
  • c.708-20T>C Single submitter
  • c.708-258A>T Single submitter
  • c.708-6T>C Single submitter intellectual disability, X-linked 1
  • c.708-9C>T Single submitter
  • c.737+16C>G Single submitter intellectual disability, X-linked 1
  • c.737+191G>A Single submitter
  • c.737+7dup Single submitter intellectual disability, X-linked 1
  • c.738-10820C>T Single submitter
  • c.738-10828C>T Single submitter
  • c.738-10828dup Single submitter
  • c.738-11017C>T Single submitter
  • c.738-212G>A Single submitter
  • c.738-5C>T Single submitter intellectual disability, X-linked 1
  • c.738-9T>A Single submitter intellectual disability, X-linked 1
  • c.999+7C>T Single submitter intellectual disability, X-linked 1
  • c.-4C>T Single submitter Inborn genetic diseases
  • c.*13G>C Single submitter
  • p.Ala1106= Single submitter intellectual disability, X-linked 1
  • p.Ala1121= Single submitter intellectual disability, X-linked 1
  • p.Ala12= Single submitter
  • p.Ala1266= Single submitter intellectual disability, X-linked 1
  • p.Ala128= Single submitter intellectual disability, X-linked 1
  • p.Ala1311= Single submitter
  • p.Ala1313Val Single submitter intellectual disability, X-linked 1
  • p.Ala1347= Single submitter intellectual disability, X-linked 1
  • p.Ala1374= Single submitter intellectual disability, X-linked 1
  • p.Ala1399= Single submitter intellectual disability, X-linked 1
  • p.Ala1400= Single submitter intellectual disability, X-linked 1
  • p.Ala149= Single submitter intellectual disability, X-linked 1
  • p.Ala149Val Single submitter intellectual disability, X-linked 1
  • p.Ala155Ser Single submitter intellectual disability, X-linked 1
  • p.Ala175= Single submitter intellectual disability, X-linked 1
  • p.Ala19= Single submitter intellectual disability, X-linked 1
  • p.Ala209Ser Single submitter intellectual disability, X-linked 1
  • p.Ala209Thr Single submitter
  • p.Ala209Val Single submitter
  • p.Ala259Val Single submitter intellectual disability, X-linked 1
  • p.Ala301= Single submitter intellectual disability, X-linked 1
  • p.Ala304= Single submitter intellectual disability, X-linked 1
  • p.Ala417= Single submitter intellectual disability, X-linked 1
  • p.Ala589= Single submitter intellectual disability, X-linked 1
  • p.Ala641= Single submitter intellectual disability, X-linked 1
  • p.Ala676= Single submitter intellectual disability, X-linked 1
  • p.Ala836= Single submitter intellectual disability, X-linked 1
  • p.Arg103= Single submitter intellectual disability, X-linked 1
  • p.Arg1077= Single submitter intellectual disability, X-linked 1
  • p.Arg126= Single submitter intellectual disability, X-linked 1
  • p.Arg1338= Single submitter intellectual disability, X-linked 1
  • p.Arg1345Gln Single submitter intellectual disability, X-linked 1
  • p.Arg168= Single submitter
  • p.Arg200Gly Single submitter
  • p.Arg243Gly Single submitter intellectual disability, X-linked 1
  • p.Arg270Gln Single submitter intellectual disability, X-linked 1
  • p.Arg295= Single submitter intellectual disability, X-linked 1
  • p.Arg369= Single submitter intellectual disability, X-linked 1
  • p.Arg389= Single submitter
  • p.Arg422Gln Single submitter intellectual disability, X-linked 1
  • p.Arg499Gln Single submitter intellectual disability, X-linked 1
  • p.Arg542Leu Single submitter intellectual disability, X-linked 1
  • p.Arg542Trp Single submitter intellectual disability, X-linked 1
  • p.Arg568Cys Single submitter intellectual disability, X-linked 1
  • p.Arg568His Single submitter intellectual disability, X-linked 1 ⚠
  • p.Arg612= Single submitter intellectual disability, X-linked 1
  • p.Arg612His Single submitter intellectual disability, X-linked 1
  • p.Arg62= Single submitter intellectual disability, X-linked 1
  • p.Arg646Cys Single submitter intellectual disability, X-linked 1
  • p.Arg863= Single submitter intellectual disability, X-linked 1
  • p.Arg93= Single submitter intellectual disability, X-linked 1
  • p.Arg956His Single submitter intellectual disability, X-linked 1 ⚠
  • p.Arg986His Single submitter ⚠
  • p.Arg989= Single submitter intellectual disability, X-linked 1
  • p.Asn1001= Single submitter intellectual disability, X-linked 1
  • p.Asn163= Single submitter intellectual disability, X-linked 1
  • p.Asn762= Single submitter
  • p.Asn877= Single submitter intellectual disability, X-linked 1
  • p.Asn920= Single submitter intellectual disability, X-linked 1
  • p.Asp1127= Single submitter intellectual disability, X-linked 1
  • p.Asp132= Single submitter intellectual disability, X-linked 1
  • p.Asp250= Single submitter intellectual disability, X-linked 1
  • p.Asp255= Single submitter intellectual disability, X-linked 1
  • p.Asp414= Single submitter
  • p.Asp624= Single submitter intellectual disability, X-linked 1
  • p.Asp909= Single submitter intellectual disability, X-linked 1
  • p.Asp983= Single submitter Inborn genetic diseases
  • p.Cys626= Single submitter intellectual disability, X-linked 1
  • p.Gln1033= Single submitter intellectual disability, X-linked 1
  • p.Gln106= Single submitter intellectual disability, X-linked 1
  • p.Gln1067= Single submitter intellectual disability, X-linked 1
  • p.Gln1084= Single submitter intellectual disability, X-linked 1
  • p.Gln1395= Single submitter intellectual disability, X-linked 1
  • p.Gln234= Single submitter intellectual disability, X-linked 1
  • p.Gln495= Single submitter intellectual disability, X-linked 1
  • p.Gln495His Single submitter intellectual disability, X-linked 1
  • p.Gln504= Single submitter intellectual disability, X-linked 1
  • p.Gln53Arg Single submitter intellectual disability, X-linked 1
  • p.Gln773= Single submitter intellectual disability, X-linked 1
  • p.Gln96= Single submitter intellectual disability, X-linked 1
  • p.Glu1094= Single submitter intellectual disability, X-linked 1
  • p.Glu1190= Single submitter intellectual disability, X-linked 1
  • p.Glu1191= Single submitter intellectual disability, X-linked 1
  • p.Glu120= Single submitter intellectual disability, X-linked 1
  • p.Glu127= Single submitter intellectual disability, X-linked 1
  • p.Glu127Gly Single submitter intellectual disability, X-linked 1
  • p.Glu169= Single submitter intellectual disability, X-linked 1
  • p.Glu169Gln Single submitter intellectual disability, X-linked 1
  • p.Glu183= Single submitter intellectual disability, X-linked 1
  • p.Glu309= Single submitter intellectual disability, X-linked 1
  • p.Glu312= Single submitter intellectual disability, X-linked 1
  • p.Glu376= Single submitter intellectual disability, X-linked 1
  • p.Glu38= Single submitter
  • p.Glu396= Single submitter intellectual disability, X-linked 1
  • p.Glu398= Single submitter intellectual disability, X-linked 1
  • p.Glu43Lys Single submitter
  • p.Glu48_Thr49insGlu Single submitter
  • p.Glu490Gly Single submitter intellectual disability, X-linked 1
  • p.Glu506= Single submitter intellectual disability, X-linked 1
  • p.Glu536= Single submitter intellectual disability, X-linked 1
  • p.Glu597= Single submitter intellectual disability, X-linked 1
  • p.Glu63= Single submitter intellectual disability, X-linked 1
  • p.Glu71= Single submitter intellectual disability, X-linked 1
  • p.Glu777Gln Single submitter intellectual disability, X-linked 1 ⚠
  • p.Glu86= Single submitter intellectual disability, X-linked 1
  • p.Glu94= Single submitter
  • p.Glu980= Single submitter intellectual disability, X-linked 1
  • p.Gly1130= Single submitter intellectual disability, X-linked 1
  • p.Gly1138= Single submitter intellectual disability, X-linked 1
  • p.Gly115= Single submitter intellectual disability, X-linked 1
  • p.Gly1154= Single submitter Inborn genetic diseases
  • p.Gly1168= Single submitter intellectual disability, X-linked 1
  • p.Gly1346= Single submitter intellectual disability, X-linked 1
  • p.Gly1348= Single submitter intellectual disability, X-linked 1
  • p.Gly1401= Single submitter intellectual disability, X-linked 1
  • p.Gly146= Single submitter intellectual disability, X-linked 1
  • p.Gly181= Single submitter intellectual disability, X-linked 1
  • p.Gly193= Single submitter
  • p.Gly208= Single submitter intellectual disability, X-linked 1
  • p.Gly4= Single submitter intellectual disability, X-linked 1
  • p.Gly429= Single submitter
  • p.Gly485= Single submitter
  • p.Gly571Asp Single submitter intellectual disability, X-linked 1
  • p.Gly577= Single submitter intellectual disability, X-linked 1
  • p.Gly577Arg Single submitter intellectual disability, X-linked 1
  • p.Gly5Arg Single submitter Inborn genetic diseases
  • p.Gly671= Single submitter
  • p.Gly674= Single submitter intellectual disability, X-linked 1
  • p.Gly682= Single submitter intellectual disability, X-linked 1
  • p.Gly6Arg Single submitter intellectual disability, X-linked 1
  • p.Gly9= Single submitter intellectual disability, X-linked 1
  • p.His1031= Single submitter intellectual disability, X-linked 1
  • p.His1241= Single submitter intellectual disability, X-linked 1
  • p.His1244= Single submitter intellectual disability, X-linked 1
  • p.His1246_His1247del Single submitter intellectual disability, X-linked 1
  • p.His1323= Single submitter intellectual disability, X-linked 1
  • p.His1387= Single submitter intellectual disability, X-linked 1
  • p.His1420= Single submitter intellectual disability, X-linked 1
  • p.His1428= Single submitter intellectual disability, X-linked 1
  • p.His740= Single submitter intellectual disability, X-linked 1
  • p.His98= Single submitter intellectual disability, X-linked 1
  • p.Ile313Leu Single submitter intellectual disability, X-linked 1
  • p.Ile44= Single submitter intellectual disability, X-linked 1
  • p.Ile596= Single submitter intellectual disability, X-linked 1
  • p.Ile772= Single submitter intellectual disability, X-linked 1
  • p.Ile883= Single submitter intellectual disability, X-linked 1
  • p.Ile889= Single submitter intellectual disability, X-linked 1
  • p.Ile924= Single submitter
  • p.Ile958= Single submitter intellectual disability, X-linked 1
  • p.Leu1004= Single submitter intellectual disability, X-linked 1
  • p.Leu102= Single submitter intellectual disability, X-linked 1
  • p.Leu1047= Single submitter intellectual disability, X-linked 1

Uncertain significance 583

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