Sugi Variant

Sugi Variant/SATB2

SATB2 — 715 ClinVar variants

All ClinVar germline SATB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 204 flagged for review →

105 Pathogenic · 12 Pathogenic/Likely pathogenic · 54 Likely pathogenic · 27 Conflicting · 60 Benign · 16 Benign/Likely benign · 257 Likely benign · 184 Uncertain significance

Full SATB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 204

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 5

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

Predictors agree, ClinVar conflicts 23

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 128

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

Predictors split 47

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

All SATB2 variants

Pathogenic 105

  • c.1174-2A>G Multiple submitters chromosome 2q32-q33 deletion syndrome
  • c.474-2A>G Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Arg239Ter Multiple submitters SATB2-related disorder
  • p.Arg283Ter Multiple submitters SATB2 associated disorder
  • p.Arg389Leu Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Arg429Gln Multiple submitters SATB2-related disorder
  • p.Arg429Ter Multiple submitters Neurodevelopmental abnormality
  • p.Arg459Ter Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Arg552fs Multiple submitters Clinodactyly of the 5th finger
  • p.Gln115Ter Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Gln270fs Multiple submitters Inborn genetic diseases
  • p.Gln285Ter Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Gln290Ter Multiple submitters Inborn genetic diseases
  • p.Gln379Ter Multiple submitters SATB2-related disorder
  • p.Glu402Lys Multiple submitters chromosome 2q32-q33 deletion syndrome ⚠
  • p.Trp123Ter Multiple submitters Inborn genetic diseases
  • p.Tyr106Ter Multiple submitters chromosome 2q32-q33 deletion syndrome
  • c.1174-1G>A Single submitter Inborn genetic diseases
  • c.344_346+1dup Single submitter chromosome 2q32-q33 deletion syndrome
  • c.346+1G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.346+2T>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.346+2T>C Single submitter SATB2-related disorder
  • c.701-2A>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.701-2A>G Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala383fs Single submitter
  • p.Ala417fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala506fs Single submitter
  • p.Arg122_Trp123insTer Single submitter
  • p.Arg369_Asp370insTer Single submitter SATB2-related disorder
  • p.Arg384Gly Single submitter
  • p.Arg389Pro Single submitter Developmental disorder
  • p.Arg399fs Single submitter Inborn genetic diseases
  • p.Arg399Gly Single submitter
  • p.Arg439fs Single submitter Inborn genetic diseases
  • p.Arg46fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Arg543fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asn531fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asn537fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln113Ter Single submitter
  • p.Gln188Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln220Ter Single submitter
  • p.Gln305Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln330Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln333Ter Single submitter
  • p.Gln379fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln391Arg Single submitter
  • p.Gln409fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln409Ter Single submitter
  • p.Gln434Ter Single submitter
  • p.Gln492fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln493Ter Single submitter Inborn genetic diseases
  • p.Gln502fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln569fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Glu185fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Glu185Ter Single submitter
  • p.Glu194fs Single submitter SATB2 associated disorder
  • p.Glu194Ter Single submitter
  • p.Glu396Gly Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Glu494fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Glu519Lys Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Glu525Lys Single submitter ⚠
  • p.Glu536Ter Single submitter Inborn genetic diseases
  • p.Glu79fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gly19fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gly42Ter Single submitter
  • p.His108fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ile202fs Single submitter SATB2-related disorder
  • p.Leu191Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu197fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu340fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu534fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Lys161fs Single submitter
  • p.Lys184Ter Single submitter
  • p.Lys218Ter Single submitter
  • p.Lys227Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Lys499Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Phe505fs Single submitter
  • p.Pro256fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro26fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro287fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro28fs Single submitter
  • p.Pro576fs Single submitter intellectual disability
  • p.Ser208fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser243Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser299fs Single submitter
  • p.Ser378fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser39fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser450fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser513Asn Single submitter intellectual disability
  • p.Ser7fs Single submitter
  • p.Ser94Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Thr190fs Single submitter
  • p.Thr465fs Single submitter
  • p.Trp170Ter Single submitter
  • p.Tyr75Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val368fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val385fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val51fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val55fs Single submitter
  • p.Val97fs Single submitter chromosome 2q32-q33 deletion syndrome
  • c.170_346dup No assertion criteria chromosome 2q32-q33 deletion syndrome
  • p.Asn444fs No assertion criteria
  • p.Gln144Ter No assertion criteria chromosome 2q32-q33 deletion syndrome
  • p.Gly515Ser No assertion criteria chromosome 2q32-q33 deletion syndrome ⚠
  • p.Lys475delinsThrTer No assertion criteria chromosome 2q32-q33 deletion syndrome

Pathogenic/Likely pathogenic 12

  • c.597+1G>A Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Arg389Cys Multiple submitters SATB2 associated disorder
  • p.Arg399Cys Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Arg399His Multiple submitters chromosome 2q32-q33 deletion syndrome ⚠
  • p.Arg399Leu Multiple submitters SATB2-related disorder
  • p.Arg522Cys Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Glu566Lys Multiple submitters SATB2-related disorder ⚠
  • p.Gly116Arg Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Gly392Arg Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Gly515Asp Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Met418Arg Multiple submitters Inborn genetic diseases
  • p.Trp523Ter Multiple submitters SATB2-related disorder

Likely pathogenic 54

  • c.700+1G>A Multiple submitters SATB2-related disorder
  • p.Gln409Arg Multiple submitters chromosome 2q32-q33 deletion syndrome ⚠
  • c.170-2A>G Single submitter chromosome 2q32-q33 deletion syndrome
  • c.473+1del Single submitter
  • c.473+1G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.474-2_474-1del Single submitter chromosome 2q32-q33 deletion syndrome
  • c.598-1G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.598-2A>G Single submitter intellectual disability
  • c.-140-2A>G Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala407fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Arg369fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Arg542fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Arg88Trp Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asn241fs Single submitter
  • p.Asn341fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asn531Lys Single submitter ⚠
  • p.Asp164fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln275Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln309Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln319Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln391Glu Single submitter SATB2-related disorder
  • p.Gln391Pro Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln409_Leu411del Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln95Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Glu269Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Glu436Val Single submitter chromosome 2q32-q33 deletion syndrome ⚠
  • p.Glu577fs Single submitter Inborn genetic diseases
  • p.Gly392Glu Single submitter
  • p.Gly392Val Single submitter SATB2-related disorder
  • p.Gly57Ser Single submitter Inborn genetic diseases ⚠
  • p.Ile397Ser Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu101Pro Single submitter Inborn genetic diseases
  • p.Leu102fs Single submitter
  • p.Leu128fs Single submitter
  • p.Leu182Pro Single submitter
  • p.Leu289Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu96Arg Single submitter
  • p.Leu96Pro Single submitter
  • p.Met1Val Single submitter
  • p.Phe222Ser Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Phe339fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser215fs Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser376Arg Single submitter chromosome 2q32-q33 deletion syndrome ⚠
  • p.Thr390Ile Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Trp516Ter Single submitter SATB2-related disorder
  • p.Tyr210Ter Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Tyr433Ser Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val131Glu Single submitter
  • p.Val234Met Single submitter chromosome 2q32-q33 deletion syndrome ⚠
  • p.Val62Asp Single submitter
  • c.1542+2T>G No assertion criteria SATB2-related disorder
  • p.Gln320Ter No assertion criteria SATB2-related disorder
  • p.Gln492Ter No assertion criteria
  • p.Leu415Pro No assertion criteria chromosome 2q32-q33 deletion syndrome

Conflicting classifications of pathogenicity 27

Benign 60

Benign/Likely benign 16

  • c.1173+4C>A Multiple submitters Inborn genetic diseases
  • c.1174-16del Multiple submitters chromosome 2q32-q33 deletion syndrome
  • c.701-12A>C Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Ala288Thr Multiple submitters Inborn genetic diseases
  • p.Asn482Ser Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Asp70= Multiple submitters Inborn genetic diseases
  • p.Gln419= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Ile345= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Ile481Val Multiple submitters Inborn genetic diseases
  • p.Leu102= Multiple submitters Inborn genetic diseases
  • p.Pro135= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Pro578Thr Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Ser294Asn Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Ser357= Multiple submitters Inborn genetic diseases
  • p.Val51Met Multiple submitters Inborn genetic diseases
  • p.Val65= Multiple submitters chromosome 2q32-q33 deletion syndrome

Likely benign 257

  • c.1173+278C>G Multiple submitters
  • c.1173+5A>G Multiple submitters chromosome 2q32-q33 deletion syndrome
  • c.1173+6A>G Multiple submitters chromosome 2q32-q33 deletion syndrome
  • c.1174-13C>A Multiple submitters chromosome 2q32-q33 deletion syndrome
  • c.1542+13T>A Multiple submitters chromosome 2q32-q33 deletion syndrome
  • c.169+9C>T Multiple submitters chromosome 2q32-q33 deletion syndrome
  • c.170-8C>T Multiple submitters chromosome 2q32-q33 deletion syndrome
  • c.1740+12C>T Multiple submitters chromosome 2q32-q33 deletion syndrome
  • c.1740+20_1740+29del Multiple submitters chromosome 2q32-q33 deletion syndrome
  • c.474-11C>G Multiple submitters chromosome 2q32-q33 deletion syndrome
  • c.598-10T>C Multiple submitters chromosome 2q32-q33 deletion syndrome
  • c.598-4del Multiple submitters Inborn genetic diseases
  • p.Ala100= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Ala137= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Ala140= Multiple submitters Inborn genetic diseases
  • p.Arg16= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Asp136= Multiple submitters Inborn genetic diseases
  • p.Asp489= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Cys195= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Glu67= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.His148= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Ile282= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Leu197= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Leu545= Multiple submitters Inborn genetic diseases
  • p.Leu73= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Lys184= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Lys524= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Pro14= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Pro252= Multiple submitters Inborn genetic diseases
  • p.Pro578= Multiple submitters Inborn genetic diseases
  • p.Ser466= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Thr151= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Val413= Multiple submitters chromosome 2q32-q33 deletion syndrome
  • p.Val55Leu Multiple submitters chromosome 2q32-q33 deletion syndrome
  • c.1173+10G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1173+8T>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1174-12C>G Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1174-16T>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1174-17T>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1174-18T>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1174-18T>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1174-6A>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1386+10T>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1386+13C>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1386+19G>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1387-10C>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1387-15A>G Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1387-27ATT[2] Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1387-4G>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1387-6T>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1387-8C>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1542+15A>G Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1542+18A>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1542+294_1542+295insTATATGTGTGTGTG Single submitter
  • c.1542+9T>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1543-10C>G Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1543-18G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1543-19C>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1543-20G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1543-218A>C Single submitter
  • c.169+14G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.169+14G>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.169+7G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.170-11T>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.170-17G>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.170-20C>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1740+11C>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1740+126A>C Single submitter
  • c.1740+13G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1740+16C>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1740+16C>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1740+17G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1740+19C>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1740+20G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1740+8T>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.1740+9C>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.346+11C>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.346+14_346+17dup Single submitter chromosome 2q32-q33 deletion syndrome
  • c.346+15C>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.346+18C>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.347-20T>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.347-4G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.473+10T>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.473+15_473+17del Single submitter chromosome 2q32-q33 deletion syndrome
  • c.473+16C>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.473+17A>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.474-14G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.474-16T>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.474-20A>G Single submitter chromosome 2q32-q33 deletion syndrome
  • c.597+15G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.597+18G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.597+20G>A Single submitter chromosome 2q32-q33 deletion syndrome
  • c.598-13T>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.598-14A>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.598-17A>G Single submitter chromosome 2q32-q33 deletion syndrome
  • c.700+11T>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.700+20T>C Single submitter chromosome 2q32-q33 deletion syndrome
  • c.700+9dup Single submitter chromosome 2q32-q33 deletion syndrome
  • c.701-19C>G Single submitter
  • c.701-208T>C Single submitter
  • c.701-7T>G Single submitter chromosome 2q32-q33 deletion syndrome
  • c.701-8C>T Single submitter chromosome 2q32-q33 deletion syndrome
  • c.-14C>G Single submitter
  • p.Ala111= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala114= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala134= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala167= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala314= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala32= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala322= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala328Asp Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala407= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala463= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala479Thr Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala50= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala503= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala510= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala52= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala54= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ala82= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Arg11= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Arg17= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Arg3= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Arg325Gln Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Arg416= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Arg437= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Arg542Cys Single submitter chromosome 2q32-q33 deletion syndrome ⚠
  • p.Arg552= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Arg567= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Arg78= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asn124= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asn177= Single submitter
  • p.Asn213= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asn241= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asn259= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asn268= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asn336= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asn355Thr Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asn444= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asn482= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asn526Ile Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asp133Glu Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asp145= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asp15= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asp430= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asp471= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asp477= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Asp553Gly Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln155= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln157= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln250= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln275= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln305= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln309= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln379= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln68= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gln95= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Glu181= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Glu2= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Glu221= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Glu401= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Glu577= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gly116= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gly38Cys Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Gly49= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.His278Arg Single submitter chromosome 2q32-q33 deletion syndrome
  • p.His570= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.His81= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ile335= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ile481= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu101= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu120= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu143= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu152= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu179= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu182= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu264= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu289= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu326= Single submitter
  • p.Leu393= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu412= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu517= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu520= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu534Phe Single submitter chromosome 2q32-q33 deletion syndrome ⚠
  • p.Leu58= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu69= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Leu86= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Lys119= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Lys161= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Lys180= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Lys499= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Lys89= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro127= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro196= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro21= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro26= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro27= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro272= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro287= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro304= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro332= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro332Thr Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro351= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro353= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro362= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro362Gln Single submitter
  • p.Pro404= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro40Ala Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro468= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Pro576= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser129= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser13= Single submitter
  • p.Ser198= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser204= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser243= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser271= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser303= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser324= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser376= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser39= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser440= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser450= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser501= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser565= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser72= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Ser94= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Thr190= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Thr209= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Thr267= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Thr460= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Thr467= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Thr469= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Thr470= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Thr484= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Thr540= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Thr99= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Tyr106= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Tyr130= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Tyr147= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Tyr226= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Tyr433= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Tyr75= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Tyr75His Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val146= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val31= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val358= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val377= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val385= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val445= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val476= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val500= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val508= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val55= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val554= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Val85= Single submitter Inborn genetic diseases
  • p.Val91= Single submitter chromosome 2q32-q33 deletion syndrome
  • p.Glu490= No assertion criteria SATB2-related disorder

Uncertain significance 184