Sugi Variant

Sugi Variant/SETD5

SETD5 — 1481 ClinVar variants

All ClinVar germline SETD5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 611 flagged for review →

176 Pathogenic · 15 Pathogenic/Likely pathogenic · 106 Likely pathogenic · 89 Conflicting · 65 Benign · 28 Benign/Likely benign · 363 Likely benign · 639 Uncertain significance

Full SETD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 611

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 57

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

Predicted LoF vs a conflicting call 6

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 404

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 404

Predictors split 141

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

All SETD5 variants

Pathogenic 176

  • c.1441-1G>A Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.2347-1G>A Multiple submitters intellectual disability
  • c.2347-7A>G Multiple submitters Inborn genetic diseases
  • c.3631+1G>A Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Arg1001Ter Multiple submitters Inborn genetic diseases
  • p.Arg1121Ter Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Arg361Ter Multiple submitters Inborn genetic diseases
  • p.Arg445Ter Multiple submitters SETD5-related disorder
  • p.Arg618Ter Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Arg768Ter Multiple submitters SETD5-related disorder
  • p.Arg912Ter Multiple submitters Developmental disorder
  • p.Arg995Ter Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gln1058fs Multiple submitters Developmental disorder
  • p.Gln1101Ter Multiple submitters Inborn genetic diseases
  • p.Gln224fs Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gln464Ter Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gln500Ter Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gln581fs Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Leu656Ter Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Lys701fs Multiple submitters
  • p.Ser760Ter Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Val1066fs Multiple submitters
  • c.1077+1G>T Single submitter
  • c.1441-2A>G Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.1441del Single submitter
  • c.1525-1G>A Single submitter
  • c.1782+1del Single submitter
  • c.1783-1G>A Single submitter SETD5-related disorder
  • c.1783-1G>C Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.1783-2A>T Single submitter Inborn genetic diseases
  • c.2104-1G>C Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.2346+1G>A Single submitter
  • c.2476+1G>A Single submitter SETD5-related disorder
  • c.2724+1G>A Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.3195+3_3195+6del Single submitter
  • c.811-1G>C Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.960-1G>A Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.960-6C>G Single submitter
  • p.Ala1083fs Single submitter
  • p.Ala358Val Single submitter
  • p.Ala608fs Single submitter
  • p.Ala692fs Single submitter
  • p.Arg1176Ter Single submitter
  • p.Arg1186Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Arg1275Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Arg290fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Arg361Pro Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Arg513_Lys514insTer Single submitter
  • p.Arg513fs Single submitter Inborn genetic diseases
  • p.Arg589fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Arg618fs Single submitter
  • p.Arg961Ter Single submitter
  • p.Arg971fs Single submitter
  • p.Asn345fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Asn417fs Single submitter
  • p.Asn524fs Single submitter
  • p.Asn654Ter Single submitter
  • p.Asn709fs Single submitter
  • p.Asn814fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Asn928fs Single submitter
  • p.Asn928Ter Single submitter
  • p.Asn991_Ala992insLeuTer Single submitter
  • p.Asp1088fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Asp499fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Asp542fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Asp542Ter Single submitter
  • p.Asp728fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Asp826fs Single submitter Inborn genetic diseases
  • p.Cys402Ter Single submitter
  • p.Gln1062Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gln1091Ter Single submitter Inborn genetic diseases
  • p.Gln1193Ter Single submitter
  • p.Gln196fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gln216fs Single submitter intellectual disability
  • p.Gln538Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gln592Ter Single submitter
  • p.Gln633fs Single submitter
  • p.Gln639Ter Single submitter Inborn genetic diseases
  • p.Gln645fs Single submitter
  • p.Gln787Ter Single submitter
  • p.Gln801fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gln810Ter Single submitter
  • p.Glu1077Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Glu438fs Single submitter
  • p.Glu495Ter Single submitter
  • p.Glu523fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Glu526fs Single submitter
  • p.Glu537fs Single submitter
  • p.Glu564fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Glu841Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Glu880Ter Single submitter
  • p.Gly1086fs Single submitter Inborn genetic diseases
  • p.Gly130fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gly179fs Single submitter neurodevelopmental disorder
  • p.Gly274fs Single submitter
  • p.Gly344fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gly775fs Single submitter
  • p.His1013fs Single submitter
  • p.His947fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ile253_Asn254insTer Single submitter
  • p.Ile299fs Single submitter
  • p.Ile576fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Leu1014fs Single submitter
  • p.Leu292fs Single submitter
  • p.Leu297fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Leu525fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Leu536fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Leu739fs Single submitter
  • p.Leu831Ter Single submitter
  • p.Lys124fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Lys171fs Single submitter
  • p.Lys174fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Lys320fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Lys399fs Single submitter
  • p.Lys514Ter Single submitter
  • p.Lys527Ter Single submitter
  • p.Lys600_Leu601insTer Single submitter Inborn genetic diseases
  • p.Lys600fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Lys700fs Single submitter
  • p.Lys781_Lys782delinsAsnTer Single submitter
  • p.Lys781Ter Single submitter
  • p.Lys782Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Lys786Ter Single submitter
  • p.Lys864fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Met306fs Single submitter
  • p.Met336fs Single submitter
  • p.Met363fs Single submitter
  • p.Phe343fs Single submitter
  • p.Phe522fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Pro752fs Single submitter
  • p.Pro859fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Pro871fs Single submitter Inborn genetic diseases
  • p.Ser1089fs Single submitter
  • p.Ser1135fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ser1171Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ser572Ter Single submitter
  • p.Ser582fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ser655_Leu656insTer Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ser664_Leu665insTer Single submitter
  • p.Ser797fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Thr1170_Ser1171insTer Single submitter
  • p.Thr1170fs Single submitter
  • p.Thr263Ser Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Thr277fs Single submitter
  • p.Thr546fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Thr552fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Thr658fs Single submitter Inborn genetic diseases
  • p.Thr705fs Single submitter
  • p.Thr896fs Single submitter
  • p.Trp784Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Tyr1029Ter Single submitter
  • p.Tyr58Ter Single submitter
  • p.Tyr985Ter Single submitter
  • p.Val1006fs Single submitter
  • p.Val1191fs Single submitter
  • p.Val164fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Val305fs Single submitter Paediatric disorders
  • p.Val376fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Val473fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Val571fs Single submitter
  • p.Val719fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Val920fs Single submitter
  • c.547_567+60del No assertion criteria intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Arg632fs No assertion criteria intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Arg757fs No assertion criteria KBG syndrome
  • p.Arg837fs No assertion criteria intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gln715Ter No assertion criteria KBG syndrome
  • p.Glu1196Ter No assertion criteria
  • p.Leu723fs No assertion criteria intellectual disability
  • p.Leu936fs No assertion criteria Neurodevelopmental abnormality
  • p.Lys116fs No assertion criteria intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Lys399Ter No assertion criteria intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ser1258fs No assertion criteria intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ser568fs No assertion criteria intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Thr726fs No assertion criteria intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Thr796fs No assertion criteria intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

Pathogenic/Likely pathogenic 15

  • c.1525-1G>C Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.960-5C>G Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Arg1072Ter Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Arg1174Ter Multiple submitters SETD5-related disorder
  • p.Arg308Ter Multiple submitters Inborn genetic diseases
  • p.Gln1058Ter Multiple submitters SETD5-related disorder
  • p.Gln272Ter Multiple submitters SETD5-related disorder
  • p.Gln640Ter Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Glu487Ter Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gly344Asp Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Leu723Ter Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ser1286fs Multiple submitters intellectual developmental disorder, autosomal dominant 45
  • p.Ser668Ter Multiple submitters Inborn genetic diseases
  • p.Tyr1000fs Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Tyr217Ter No assertion criteria SETD5-related disorder

Likely pathogenic 106

  • p.Lys330Glu Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Phe324Leu Multiple submitters intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ser1371fs Multiple submitters
  • p.Tyr391Cys Multiple submitters SETD5-related disorder
  • c.177+1G>A Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.1782+1G>A Single submitter
  • c.2103+2T>G Single submitter
  • c.2104-1G>A Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.2104-1G>T Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.3195+1G>T Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.3196-2A>G Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.3497+1G>C Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.3631+1G>C Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.3631+1G>T Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.567+1G>A Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.568-2A>G Single submitter
  • c.810+1G>A Single submitter
  • c.810+1G>T Single submitter SETD5-related disorder
  • c.960-2A>C Single submitter SETD5-related disorder
  • p.Ala1049fs Single submitter SETD5-related disorder
  • p.Ala347Thr Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency ⚠
  • p.Ala641fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ala647fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ala918fs Single submitter SETD5-related disorder
  • p.Arg1028fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Arg1121fs Single submitter
  • p.Arg348Leu Single submitter
  • p.Arg54Ter Single submitter
  • p.Asn1059fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Asn357Lys Single submitter
  • p.Asn573fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Asp1211Asn Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency ⚠
  • p.Asp339Tyr Single submitter
  • p.Asp483fs Single submitter
  • p.Cys354Arg Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gln1159fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gln224Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gln268Ter Single submitter SETD5-related disorder
  • p.Gln454Ter Single submitter SETD5-related disorder
  • p.Gln465Ter Single submitter SETD5-related disorder
  • p.Gln534fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gln795Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Glu1047Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Glu448Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Glu481delinsAlaTer Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Glu516Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Glu720Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gly1086Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Gly130Ser Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency ⚠
  • p.Gly333fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.His1113fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.His744Arg Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency ⚠
  • p.His966fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ile298fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ile387Met Single submitter
  • p.Ile387Thr Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Leu1068fs Single submitter SETD5-related disorder
  • p.Leu1294fs Single submitter
  • p.Leu233Pro Single submitter Inborn genetic diseases
  • p.Leu286Pro Single submitter SETD5-related disorder
  • p.Leu292Ser Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Leu292Ter Single submitter SETD5-related disorder
  • p.Leu601fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Leu771fs Single submitter SETD5-related disorder
  • p.Lys1093Ter Single submitter
  • p.Lys822Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Phe1262fs Single submitter
  • p.Pro1054fs Single submitter SETD5-related disorder
  • p.Pro1123fs Single submitter
  • p.Pro1375fs Single submitter
  • p.Pro247fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Pro427fs Single submitter SETD5-related disorder
  • p.Pro470fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Pro722fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Pro853fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ser1360Ter Single submitter
  • p.Ser353Leu Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ser570fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ser626Ter Single submitter intellectual disability
  • p.Ser644Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Ser677fs Single submitter SETD5-related disorder
  • p.Ser865fs Single submitter autism spectrum disorder
  • p.Ser962fs Single submitter SETD5-related disorder
  • p.Thr1317fs Single submitter
  • p.Thr252fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Thr296Pro Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Thr805Ter Single submitter SETD5-related disorder
  • p.Trp206Ter Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Tyr1237Ter Single submitter
  • p.Tyr301Cys Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Tyr393fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Tyr987fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Tyr987Ter Single submitter
  • p.Val1066Gly Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Val305Gly Single submitter Neurodevelopmental delay
  • p.Val554fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Val799fs Single submitter intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • c.2476+2T>C No assertion criteria polymicrogyria
  • p.Gln1396Ter No assertion criteria SETD5-related disorder
  • p.Glu359= No assertion criteria Chromatinopathy
  • p.Glu661fs No assertion criteria Moyamoya angiopathy with developmental delay
  • p.His1287fs No assertion criteria intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Leu326fs No assertion criteria Rare genetic intellectual disability
  • p.Leu851fs No assertion criteria Rare genetic intellectual disability
  • p.Pro485fs No assertion criteria intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • p.Tyr838Cys No assertion criteria ⚠

Conflicting classifications of pathogenicity 89

Benign 65

Benign/Likely benign 28

Likely benign 363

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

Uncertain significance 639

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