Sugi Variant

Sugi Variant/CASK

CASK — 944 ClinVar variants

All ClinVar germline CASK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 309 flagged for review →

109 Pathogenic · 12 Pathogenic/Likely pathogenic · 73 Likely pathogenic · 49 Conflicting · 86 Benign · 21 Benign/Likely benign · 273 Likely benign · 321 Uncertain significance

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

⚑ Evidence disagreements 309

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 3

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

Predictors agree, ClinVar conflicts 16

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

Predictors lean, ClinVar uncertain 167

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 167

Predictors split 123

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

All CASK variants

Pathogenic 109

  • c.1015+1G>A Multiple submitters syndromic X-linked intellectual disability Najm type
  • c.2317+1G>A Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Arg106Ter Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Arg255Cys Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Arg27Ter Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Arg28Ter Multiple submitters CASK-related syndromic intellectual disability
  • p.Arg639Ter Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Arg681Ter Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Asp95fs Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Gln883Ter Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Glu622Ter Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Thr548fs Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Trp657Ter Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Trp700Ter Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Tyr282Ter Multiple submitters Inborn genetic diseases
  • c.1015+1G>C Single submitter Inborn genetic diseases
  • c.116_117delCA Single submitter syndromic X-linked intellectual disability Najm type
  • c.1315-7A>G Single submitter syndromic X-linked intellectual disability Najm type
  • c.1504-2A>C Single submitter
  • c.1843-1G>A Single submitter syndromic X-linked intellectual disability Najm type
  • c.1843-2A>T Single submitter
  • c.2039+1G>A Single submitter X-linked syndromic intellectual disability
  • c.2040-2A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.2155+2T>C Single submitter
  • c.2318-2A>G Single submitter syndromic X-linked intellectual disability Najm type
  • c.2521-6A>G Single submitter syndromic X-linked intellectual disability Najm type
  • c.2604+1G>T Single submitter syndromic X-linked intellectual disability Najm type
  • c.278+2_278+3del Single submitter syndromic X-linked intellectual disability Najm type
  • c.429+1G>A Single submitter
  • c.430-2A>T Single submitter syndromic X-linked intellectual disability Najm type
  • c.533-2A>G Single submitter isolated cerebellar hypoplasia/agenesis
  • c.708+1G>A Single submitter syndromic X-linked intellectual disability Najm type
  • c.708+2T>G Single submitter CASK-related disorder
  • c.916-1G>A Single submitter FG syndrome 4
  • p.Ala166Asp Single submitter Developmental disorder
  • p.Arg399fs Single submitter
  • p.Arg526fs Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asn666fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Asn757fs Single submitter
  • p.Asp98fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Cys146Tyr Single submitter
  • p.Gln241Ter Single submitter
  • p.Gln294Ter Single submitter syndromic X-linked intellectual disability Najm type
  • p.Gln37Ter Single submitter syndromic X-linked intellectual disability Najm type
  • p.Gln397Ter Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gln494Ter Single submitter
  • p.Gln527Ter Single submitter CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia
  • p.Gln547Ter Single submitter syndromic X-linked intellectual disability Najm type
  • p.Gln553fs Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gln658Ter Single submitter
  • p.Gln694Ter Single submitter syndromic X-linked intellectual disability Najm type
  • p.Gln795Ter Single submitter
  • p.Gln798Ter Single submitter syndromic X-linked intellectual disability Najm type
  • p.Gln829Ter Single submitter syndromic X-linked intellectual disability Najm type
  • p.Glu13fs Single submitter neurodevelopmental disorder
  • p.Glu13Ter Single submitter
  • p.Glu153fs Single submitter Intellectual disability, CASK-related, X-linked
  • p.Glu411Ter Single submitter
  • p.Glu62fs Single submitter
  • p.Glu782Ter Single submitter
  • p.Glu849fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Glu878Ter Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gly197Ter Single submitter syndromic X-linked intellectual disability Najm type
  • p.Gly306fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Gly659Asp Single submitter syndromic X-linked intellectual disability Najm type
  • p.Gly751fs Single submitter neurodevelopmental disorder
  • p.His358fs Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ile265fs Single submitter Developmental disorder
  • p.Ile503fs Single submitter
  • p.Leu490fs Single submitter
  • p.Leu604fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Leu661fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Leu713Ter Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu7fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Leu820fs Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu882Ter Single submitter
  • p.Lys277Ter Single submitter Intellectual disability, CASK-related, X-linked
  • p.Lys689Ter Single submitter Inborn genetic diseases
  • p.Lys843Ter Single submitter
  • p.Met186fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Met1Leu Single submitter
  • p.Met1Val Single submitter Inborn genetic diseases
  • p.Met258fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Met555fs Single submitter Intellectual disability, CASK-related, X-linked
  • p.Phe185fs Single submitter
  • p.Phe23fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Phe850fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Phe8fs Single submitter
  • p.Pro462fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Ser313Ter Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ser562fs Single submitter
  • p.Ser810Asn Single submitter syndromic X-linked intellectual disability Najm type ⚠
  • p.Thr182_Pro183delinsProThrTer Single submitter
  • p.Trp203Ter Single submitter Intellectual disability, CASK-related, X-linked
  • p.Trp275Ter Single submitter syndromic X-linked intellectual disability Najm type
  • p.Trp919Ter Single submitter
  • p.Tyr196Ter Single submitter
  • p.Tyr220Ter Single submitter
  • p.Tyr712Ter Single submitter syndromic X-linked intellectual disability Najm type
  • p.Tyr816Ter Single submitter Intellectual disability, CASK-related, X-linked
  • p.Val11fs Single submitter Intellectual disability, CASK-related, X-linked
  • p.Val175fs Single submitter
  • p.Val549fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Val732del Single submitter
  • c.173-2331_278+1542del No assertion criteria syndromic X-linked intellectual disability Najm type
  • p.Arg28Leu No assertion criteria FG syndrome 4
  • p.Lys236fs No assertion criteria syndromic X-linked intellectual disability Najm type
  • p.Lys305= No assertion criteria syndromic X-linked intellectual disability Najm type
  • p.Trp919Arg No assertion criteria FG syndrome 4

Pathogenic/Likely pathogenic 12

  • c.1315-1G>A Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.2317+5G>A Multiple submitters FG syndrome 4
  • c.2521-2A>G Multiple submitters Inability to walk
  • c.59+2T>C Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Arg489Gln Multiple submitters congenital nervous system disorder
  • p.Arg489Trp Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Arg537Ter Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Arg613Ter Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Gln692Ter Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Glu102Gly Multiple submitters FG syndrome 4
  • p.Leu209Pro Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Tyr708fs No assertion criteria syndromic X-linked intellectual disability Najm type

Likely pathogenic 73

  • p.Tyr728Cys Multiple submitters syndromic X-linked intellectual disability Najm type
  • p.Val292del Multiple submitters intellectual disability
  • c.1033+1G>A Single submitter
  • c.1156-4408_1503+2676dup Single submitter FG syndrome 4
  • c.1233+1G>T Single submitter syndromic X-linked intellectual disability Najm type
  • c.1234-1G>C Single submitter syndromic X-linked intellectual disability Najm type
  • c.1315-4_1315-1dup Single submitter syndromic X-linked intellectual disability Najm type
  • c.1504-2_1504-1del Single submitter CASK-related syndromic intellectual disability
  • c.1582+1G>A Single submitter syndromic X-linked intellectual disability Najm type
  • c.1583-1G>T Single submitter syndromic X-linked intellectual disability Najm type
  • c.1668+5G>A Single submitter CASK-related disorder
  • c.173-1145_278+7387del Single submitter syndromic X-linked intellectual disability Najm type
  • c.173-1G>A Single submitter syndromic X-linked intellectual disability Najm type
  • c.173-1G>T Single submitter
  • c.1807-1G>T Single submitter
  • c.2040-1G>A Single submitter
  • c.2155+1G>C Single submitter syndromic X-linked intellectual disability Najm type
  • c.2236+1delinsAT Single submitter Global developmental delay
  • c.2236+1G>C Single submitter syndromic X-linked intellectual disability Najm type
  • c.2237-2A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.356+1G>T Single submitter syndromic X-linked intellectual disability Najm type
  • c.430-1G>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.532+2T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.59+5G>A Single submitter syndromic X-linked intellectual disability Najm type
  • c.915+1G>A Single submitter syndromic X-linked intellectual disability Najm type
  • c.916-2A>T Single submitter syndromic X-linked intellectual disability Najm type
  • p.Ala166Pro Single submitter
  • p.Ala187fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Ala814fs Single submitter CASK-related disorder
  • p.Arg613fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Asp710Gly Single submitter FG syndrome 4
  • p.Cys132Ter Single submitter syndromic X-linked intellectual disability Najm type
  • p.Cys205fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Cys633Tyr Single submitter
  • p.Glu62Lys Single submitter genetic developmental and epileptic encephalopathy
  • p.Gly164Arg Single submitter intellectual disability
  • p.Gly528Ser Single submitter
  • p.Gly667Ter Single submitter syndromic X-linked intellectual disability Najm type
  • p.Gly809Ser Single submitter
  • p.His120Arg Single submitter syndromic X-linked intellectual disability Najm type
  • p.His531Pro Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ile649fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Ile755fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Leu169Ter Single submitter syndromic X-linked intellectual disability Najm type
  • p.Leu723= Single submitter syndromic X-linked intellectual disability Najm type
  • p.Lys159fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Met523fs Single submitter
  • p.Met687Val Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Phe163Leu Single submitter intellectual disability
  • p.Phe720fs Single submitter
  • p.Pro329fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Pro673Leu Single submitter
  • p.Pro772fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Ser155Leu Single submitter FG syndrome 4
  • p.Ser172fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Ser475Ile Single submitter FG syndrome 4 ⚠
  • p.Thr222fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Thr504fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Thr529Lys Single submitter
  • p.Thr564fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Thr893fs Single submitter syndromic X-linked intellectual disability Najm type
  • p.Trp242Ter Single submitter syndromic X-linked intellectual disability Najm type
  • p.Tyr12Ter Single submitter
  • p.Tyr886Ter Single submitter syndromic X-linked intellectual disability Najm type
  • p.Val165Leu Single submitter ⚠
  • p.Val719Met Single submitter syndromic X-linked intellectual disability Najm type
  • p.Val854Ala Single submitter syndromic X-linked intellectual disability Najm type
  • c.1155+1G>T No assertion criteria
  • c.2039+1del No assertion criteria syndromic X-linked intellectual disability Najm type
  • c.2156-1G>A No assertion criteria isolated cerebellar hypoplasia/agenesis
  • p.Asp781fs No assertion criteria syndromic X-linked intellectual disability Najm type
  • p.Glu870fs No assertion criteria syndromic X-linked intellectual disability Najm type
  • p.Tyr419fs No assertion criteria syndromic X-linked intellectual disability Najm type

Conflicting classifications of pathogenicity 49

  • c.1314+5_1314+8del Single submitter Intellectual disability, CASK-related, X-linked
  • c.1315-10A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.1503+3A>G Single submitter Inborn genetic diseases
  • c.1669-6dup Single submitter Intellectual disability, CASK-related, X-linked
  • c.1669-7C>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.1669-8C>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.2155+4G>A Single submitter CASK-related disorder
  • c.2317+9T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.356+6T>C Single submitter Inborn genetic diseases
  • c.709-3C>T Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ala359= Single submitter Inborn genetic diseases
  • p.Ala405= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Arg254His Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Arg255His Single submitter syndromic X-linked intellectual disability Najm type ⚠
  • p.Arg264Lys Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Arg408= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Arg572Cys Single submitter FG syndrome 4 ⚠
  • p.Arg641Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg766Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg824Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg824Trp Single submitter Inborn genetic diseases ⚠
  • p.Asn540Ser Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Asn897Lys Single submitter Inborn genetic diseases ⚠
  • p.Asp471Asn Single submitter Inborn genetic diseases ⚠
  • p.Glu263Lys Single submitter FG syndrome 4 ⚠
  • p.Glu333Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu804Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly19Arg Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Gly206Asp Single submitter syndromic X-linked intellectual disability Najm type ⚠
  • p.Gly206Ser Single submitter FG syndrome 4 ⚠
  • p.Gly53= Single submitter
  • p.Gly637Asp Single submitter syndromic X-linked intellectual disability Najm type ⚠
  • p.His773Tyr Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Ile834Thr Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Leu14= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu759= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Lys297= Single submitter Inborn genetic diseases
  • p.Met797Thr Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Phe93= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Pro396Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro473= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ser313Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser364Gly Single submitter Inborn genetic diseases ⚠
  • p.Thr361Ile Single submitter FG syndrome 4 ⚠
  • p.Thr464Ala Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Thr573Ile Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Thr775= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Trp680Ser Single submitter syndromic X-linked intellectual disability Najm type ⚠
  • p.Tyr268His Single submitter Intellectual disability, CASK-related, X-linked ⚠

Benign 86

  • c.1034-6C>T Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.1234-22G>A Multiple submitters
  • c.1234-30G>A Multiple submitters
  • c.1504-6dup Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.1669-9C>A Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.1842+41A>T Multiple submitters
  • c.2039+15G>A Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.2521-10C>T Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.2521-11del Multiple submitters FG syndrome
  • c.2521-11dup Multiple submitters
  • c.2604+203G>A Multiple submitters
  • c.278+276C>A Multiple submitters
  • c.279-107C>A Multiple submitters
  • c.430-31TGTT[2] Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.533-99_533-84del Multiple submitters
  • p.Ala814= Multiple submitters Inborn genetic diseases
  • p.Phe375= Multiple submitters Inborn genetic diseases
  • p.Pro673= Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Tyr121= Multiple submitters Inborn genetic diseases
  • c.1034-5del Single submitter Intellectual disability, CASK-related, X-linked
  • c.1156-15T>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.1233+16del Single submitter Intellectual disability, CASK-related, X-linked
  • c.1233+17A>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.1233+18T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.1233+273C>A Single submitter
  • c.1233+8A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.1234-258C>G Single submitter
  • c.1234-3dup Single submitter Intellectual disability, CASK-related, X-linked
  • c.1314+18T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.1314+20C>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.1315-17dup Single submitter Intellectual disability, CASK-related, X-linked
  • c.1503+18G>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.1504-15_1504-14insC Single submitter Intellectual disability, CASK-related, X-linked
  • c.1504-7_1504-6dup Single submitter Intellectual disability, CASK-related, X-linked
  • c.1583-7T>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.1668+10T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.1669-7C>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.173-268del Single submitter
  • c.1806+20A>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.1807-292del Single submitter
  • c.1842+18A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.1843-17G>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.2039+16T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.2039+243A>G Single submitter
  • c.2040-7G>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.2317+14C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.2318-251A>C Single submitter
  • c.2521-168G>A Single submitter
  • c.2521-2A>T Single submitter FG syndrome 4
  • c.356+1827C>T Single submitter
  • c.357-306A>C Single submitter
  • c.429+11419A>G Single submitter
  • c.429+20T>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.532+25dup Single submitter
  • c.532+340G>A Single submitter
  • c.60-20A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.832-11A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.916-3dup Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ala425= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asn469= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asp108= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asp334= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asp445= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asp454= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asp781= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Cys205= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gly593Arg Single submitter Intellectual disability, CASK-related, X-linked
  • p.His520= Single submitter Intellectual disability, CASK-related, X-linked
  • p.His827= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ile857Val Single submitter
  • p.Leu428= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu892= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu912= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Lys733Arg Single submitter
  • p.Lys738Asn Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Lys738Thr Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Phe91= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Pro324= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ser155= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ser562= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Thr266= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Thr49= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Thr56Ala Single submitter Intellectual disability, CASK-related, X-linked
  • p.Thr758Ser Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Tyr387Cys Single submitter Intellectual disability, CASK-related, X-linked
  • p.Val112= Single submitter Intellectual disability, CASK-related, X-linked

Benign/Likely benign 21

  • c.1503+15A>G Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.1504-6del Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.1669-6del Multiple submitters Inborn genetic diseases
  • c.2040-17C>A Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.2040-9A>G Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.430-18G>A Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.430-27_430-20del Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.916-15A>G Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Arg430His Multiple submitters Inborn genetic diseases
  • p.Asn598= Multiple submitters Inborn genetic diseases
  • p.Asn803= Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Asp724= Multiple submitters Inborn genetic diseases
  • p.Asp836= Multiple submitters Inborn genetic diseases
  • p.His444= Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.His811= Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Ile65= Multiple submitters Inborn genetic diseases
  • p.Leu725= Multiple submitters Inborn genetic diseases
  • p.Pro144= Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Thr464= Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Val200= Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Val743Leu Multiple submitters Intellectual disability, CASK-related, X-linked

Likely benign 273

  • c.1503+18G>C Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.1503+37G>A Multiple submitters
  • c.1583-168G>A Multiple submitters
  • c.1806+17dup Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.1843-18C>T Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.1843-84C>G Multiple submitters
  • c.2156-40T>A Multiple submitters
  • c.2318-11C>T Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.2318-16C>T Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.2521-11T>C Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.2604+210C>T Multiple submitters
  • c.2604+71C>T Multiple submitters
  • c.2604+7A>C Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.2605-17A>G Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.532+114C>A Multiple submitters
  • c.532+13T>C Multiple submitters Intellectual disability, CASK-related, X-linked
  • c.533-259C>T Multiple submitters
  • p.Ala456= Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Arg430Cys Multiple submitters Intellectual disability, CASK-related, X-linked ⚠
  • p.Gln124= Multiple submitters Inborn genetic diseases
  • p.Gln434= Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Glu194= Multiple submitters Inborn genetic diseases
  • p.Glu550= Multiple submitters Inborn genetic diseases
  • p.Ile103= Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Phe890= Multiple submitters Inborn genetic diseases
  • p.Pro188= Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Pro335= Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Ser332= Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Ser576= Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Tyr282= Multiple submitters Intellectual disability, CASK-related, X-linked
  • p.Tyr808= Multiple submitters FG syndrome 4
  • p.Val412= Multiple submitters Inborn genetic diseases
  • p.Val837= Multiple submitters Inborn genetic diseases
  • c.1015+12A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.1016-20A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.1016-247dup Single submitter
  • c.1016-8C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.1034-16T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.1155+12T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.1155+9G>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.1156-16C>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.1156-7T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.1156-9G>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.1233+10A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.1233+16T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.1233+9T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.1234-15T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.1234-20_1234-12del Single submitter Intellectual disability, CASK-related, X-linked
  • c.1234-20A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.1234-8T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.1234-9del Single submitter Intellectual disability, CASK-related, X-linked
  • c.1503+17A>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.1504-12T>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.1504-17T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.1504-252_1504-243del Single submitter
  • c.1504-269A>G Single submitter
  • c.1504-97G>A Single submitter syndromic X-linked intellectual disability Najm type
  • c.1582+12A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.1583-10_1583-8del Single submitter Intellectual disability, CASK-related, X-linked
  • c.1583-14A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.1668+11G>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.1669-14C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.1669-18C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.1669-5T>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.1669-5T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.1669-6C>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.1669-7C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.1669-8C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.172+277del Single submitter
  • c.173-12T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.173-15A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.173-17G>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.173-268dup Single submitter
  • c.1737+11dup Single submitter Intellectual disability, CASK-related, X-linked
  • c.1737+17A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.1737+18C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.1738-252A>C Single submitter
  • c.1806+7A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.1807-12T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.1807-4A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.1843-179T>G Single submitter
  • c.2039+14C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.2039+15_2039+23del Single submitter Intellectual disability, CASK-related, X-linked
  • c.2040-15T>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.2040-236G>A Single submitter
  • c.2155+14C>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.2155+19G>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.2155+267A>G Single submitter
  • c.2236+11T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.2236+13G>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.2237-12T>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.2317+20C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.2317+7A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.2318-10G>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.2318-12G>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.2318-47C>G Single submitter
  • c.2520+10A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.2520+1427A>G Single submitter
  • c.2520+1468G>A Single submitter
  • c.2520+19G>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.2520+8C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.2521-10_2521-8del Single submitter Intellectual disability, CASK-related, X-linked
  • c.2521-162T>C Single submitter
  • c.2521-7A>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.2604+20T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.2605-12A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.2605-14del Single submitter Intellectual disability, CASK-related, X-linked
  • c.2605-15C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.278+10dup Single submitter Intellectual disability, CASK-related, X-linked
  • c.278+20C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.279-10T>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.279-13C>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.279-5T>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.356+15_356+18dup Single submitter Intellectual disability, CASK-related, X-linked
  • c.356+16C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.356+1848A>G Single submitter
  • c.356+18A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.356+229G>T Single submitter
  • c.357-16C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.357-18T>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.429+16T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.429+8A>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.430-14G>A Single submitter Intellectual disability, CASK-related, X-linked
  • c.430-19C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.430-20T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.430-31TGTT[4] Single submitter Intellectual disability, CASK-related, X-linked
  • c.533-10T>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.533-15T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.59+15G>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.59+9C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.60-9del Single submitter Intellectual disability, CASK-related, X-linked
  • c.708+16C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.709-6C>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.709-6C>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.831+18G>T Single submitter Intellectual disability, CASK-related, X-linked
  • c.831+29A>G Single submitter
  • c.832-13dup Single submitter Intellectual disability, CASK-related, X-linked
  • c.832-18A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.832-19T>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.832-4A>G Single submitter Intellectual disability, CASK-related, X-linked
  • c.915+7T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.915+829A>G Single submitter
  • c.916-14T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.916-17T>C Single submitter Intellectual disability, CASK-related, X-linked
  • c.-6C>T Single submitter
  • p.Ala116= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ala187= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ala2= Single submitter
  • p.Ala310= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ala342= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ala686= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ala714= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ala768= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Arg130= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Arg28= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Arg399Gly Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Arg517= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Arg526= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Arg560= Single submitter Inborn genetic diseases
  • p.Arg613Gln Single submitter Intellectual disability, CASK-related, X-linked
  • p.Arg641= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Arg681= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asn136= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asn154= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asn299= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asn477= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asn896= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asp201= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asp367= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asp44= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Asp653= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Cys15= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Cys363= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gln442= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gln574Arg Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gln620= Single submitter
  • p.Gln707= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gln829Arg Single submitter Inborn genetic diseases
  • p.Gln918= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Glu228= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Glu355= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Glu688= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Glu79= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Glu878= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gly162= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gly170= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gly178= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gly204= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gly521= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gly612= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gly702= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Gly830= Single submitter Intellectual disability, CASK-related, X-linked
  • p.His133= Single submitter Intellectual disability, CASK-related, X-linked
  • p.His512= Single submitter Intellectual disability, CASK-related, X-linked
  • p.His73= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ile18= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ile398Phe Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Ile542= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ile672= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ile894Val Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Ile895= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ile903= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu126= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu129= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu257= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu309= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu341= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu354= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu360= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu368= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu383= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu457= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu552= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu59= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu7= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu745= Single submitter
  • p.Leu77= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu78= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu831= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu835= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu842= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu87= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Leu906= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Lys105= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Lys303= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Lys316= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Lys60= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Lys660= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Lys665Arg Single submitter Developmental disorder
  • p.Phe101= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Phe23= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Phe317= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Phe890Val Single submitter Intellectual disability, CASK-related, X-linked
  • p.Pro183= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Pro199= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Pro218= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Pro274= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Pro462= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Pro466= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Pro917= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ser319= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ser373Gly Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Ser403= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ser417= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ser602Ala Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ser64= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Ter927= Single submitter Inborn genetic diseases
  • p.Thr182= Single submitter Inborn genetic diseases
  • p.Thr497= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Thr529= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Thr608= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Thr847= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Thr863= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Thr863Ile Single submitter Intellectual disability, CASK-related, X-linked ⚠
  • p.Thr893= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Tyr196= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Tyr220= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Tyr728= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Tyr816= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Tyr886= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Tyr886His Single submitter Intellectual disability, CASK-related, X-linked
  • p.Tyr926Cys Single submitter Intellectual disability, CASK-related, X-linked
  • p.Val165Ile Single submitter Intellectual disability, CASK-related, X-linked
  • p.Val175= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Val190= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Val292= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Val308= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Val491= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Val549= Single submitter Intellectual disability, CASK-related, X-linked
  • p.Val743= Single submitter
  • p.Val75= Single submitter Intellectual disability, CASK-related, X-linked
  • c.2156-7G>A No assertion criteria CASK-related disorder
  • p.Leu295= No assertion criteria CASK-related disorder

Uncertain significance 321

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