KMT5B — 293 ClinVar variants
All ClinVar germline KMT5B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →
32 Pathogenic · 6 Pathogenic/Likely pathogenic · 44 Likely pathogenic · 8 Conflicting · 6 Benign · 1 Benign/Likely benign · 56 Likely benign · 140 Uncertain significance
Full KMT5B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 122
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 agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KMT5B p.Ala641Val
Conflicting
Single submitter
Inborn genetic diseases
-
KMT5B p.Arg540Gln
Conflicting
Single submitter
intellectual disability, autosomal dominant 51
- KMT5B p.Glu325Lys Conflicting Single submitter
-
KMT5B p.Leu561Phe
Conflicting
Single submitter
Inborn genetic diseases
-
KMT5B p.Thr569Met
Conflicting
Single submitter
Inborn genetic diseases
-
KMT5B p.Tyr307His
Conflicting
Single submitter
Global developmental delay
Predicted LoF vs a conflicting call 2
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.
-
KMT5B p.Leu32Ter
Conflicting
Single submitter
KMT5B-related disorder
- KMT5B p.Ser866fs Conflicting Single submitter
Predictors lean, ClinVar uncertain 90
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KMT5B p.Asn394Lys
Uncertain significance
Multiple submitters
KMT5B-related disorder
-
KMT5B p.Ser397Tyr
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 51
-
KMT5B p.Ala293Pro
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
-
KMT5B p.Ala293Val
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
- KMT5B p.Ala420Thr Uncertain significance Single submitter
-
KMT5B p.Ala513Val
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
-
KMT5B p.Ala514Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
KMT5B p.Ala692Thr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
- KMT5B p.Arg143Cys Uncertain significance Single submitter
- KMT5B p.Arg395Gln Uncertain significance Single submitter
-
KMT5B p.Arg539Trp
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
- KMT5B p.Asn123Tyr Uncertain significance Single submitter
- KMT5B p.Asn201Asp Uncertain significance Single submitter
- KMT5B p.Asn404Ser Uncertain significance Single submitter
- KMT5B p.Asn711Asp Uncertain significance Single submitter
- KMT5B p.Asn9Thr Uncertain significance Single submitter
- KMT5B p.Asp147Gly Uncertain significance Single submitter
- KMT5B p.Asp493Val Uncertain significance Single submitter
-
KMT5B p.Asp736Tyr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
- KMT5B p.Asp843Glu Uncertain significance Single submitter
-
KMT5B p.Asp90Asn
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
- KMT5B p.Asp90Glu Uncertain significance Single submitter
- KMT5B p.Cys305Arg Uncertain significance Single submitter
- KMT5B p.Cys319Tyr Uncertain significance Single submitter
- KMT5B p.Cys458Gly Uncertain significance Single submitter
-
KMT5B p.Cys54Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- KMT5B p.Cys668Ser Uncertain significance Single submitter
-
KMT5B p.Cys78Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KMT5B p.Gln652Glu Uncertain significance Single submitter
-
KMT5B p.Glu48Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- KMT5B p.Gly194Arg Uncertain significance Single submitter
- KMT5B p.Gly209Val Uncertain significance Single submitter
- KMT5B p.Gly266Asp Uncertain significance Single submitter
-
KMT5B p.Gly308Glu
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
-
KMT5B p.Gly674Asp
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
-
KMT5B p.Gly674Ser
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
- KMT5B p.Gly674Val Uncertain significance Single submitter
- KMT5B p.Gly789Trp Uncertain significance Single submitter
-
KMT5B p.His181Arg
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
-
KMT5B p.His592Tyr
Uncertain significance
Single submitter
KMT5B-related disorder
-
KMT5B p.Ile184Val
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
- KMT5B p.Leu137Pro Uncertain significance Single submitter
-
KMT5B p.Leu168Val
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
- KMT5B p.Leu77Phe Uncertain significance Single submitter
-
KMT5B p.Leu795Ile
Uncertain significance
Single submitter
KMT5B-related disorder
- KMT5B p.Leu808Arg Uncertain significance Single submitter
- KMT5B p.Lys363Arg Uncertain significance Single submitter
- KMT5B p.Lys403Arg Uncertain significance Single submitter
- KMT5B p.Lys451Glu Uncertain significance Single submitter
- KMT5B p.Lys611Glu Uncertain significance Single submitter
- KMT5B p.Lys717Arg Uncertain significance Single submitter
- KMT5B p.Met253Leu Uncertain significance Single submitter
- KMT5B p.Met415Leu Uncertain significance Single submitter
-
KMT5B p.Met472Val
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
- KMT5B p.Phe689Leu Uncertain significance Single submitter
- KMT5B p.Pro444Arg Uncertain significance Single submitter
- KMT5B p.Pro444Thr Uncertain significance Single submitter
- KMT5B p.Pro571Arg Uncertain significance Single submitter
-
KMT5B p.Pro672Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KMT5B p.Pro805Ser
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
- KMT5B p.Ser118Asn Uncertain significance Single submitter
- KMT5B p.Ser435Pro Uncertain significance Single submitter
- KMT5B p.Ser567Arg Uncertain significance Single submitter
-
KMT5B p.Ser682Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KMT5B p.Ser740Pro Uncertain significance Single submitter
- KMT5B p.Ser773Arg Uncertain significance Single submitter
- KMT5B p.Ser803Asn Uncertain significance Single submitter
- KMT5B p.Ser825Asn Uncertain significance Single submitter
- KMT5B p.Ser830Phe Uncertain significance Single submitter
-
KMT5B p.Ser831Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KMT5B p.Ser832Pro
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
- KMT5B p.Thr191Ala Uncertain significance Single submitter
-
KMT5B p.Thr409Lys
Uncertain significance
Single submitter
KMT5B-related neurodevelopmental disorder
- KMT5B p.Thr607Ile Uncertain significance Single submitter
- KMT5B p.Thr630Asn Uncertain significance Single submitter
-
KMT5B p.Trp264Ser
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
- KMT5B p.Tyr485Phe Uncertain significance Single submitter
-
KMT5B p.Tyr564Cys
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
-
KMT5B p.Tyr564His
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
- KMT5B p.Val140Ile Uncertain significance Single submitter
- KMT5B p.Val282Ala Uncertain significance Single submitter
- KMT5B p.Val47Phe Uncertain significance Single submitter
- KMT5B p.Val482Gly Uncertain significance Single submitter
- KMT5B p.Val632Leu Uncertain significance Single submitter
- KMT5B p.Val661Leu Uncertain significance Single submitter
-
KMT5B p.Arg286Gln
Uncertain significance
No assertion criteria
intellectual disability, autosomal dominant 51
-
KMT5B p.Arg327Trp
Uncertain significance
No assertion criteria
KMT5B-related disorder
-
KMT5B p.Arg812Pro
Uncertain significance
No assertion criteria
intellectual disability, autosomal dominant 51
-
KMT5B p.Asp839Asn
Uncertain significance
No assertion criteria
KMT5B-related disorder
-
KMT5B p.Trp218Arg
Uncertain significance
No assertion criteria
KMT5B-related disorder
Predictors split 24
The independent predictors disagree with each other — read with care.
-
KMT5B p.Arg540Trp
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 51
-
KMT5B p.Asp848Asn
Uncertain significance
Multiple submitters
intellectual disability, autosomal dominant 51
-
KMT5B p.Tyr166Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KMT5B p.Arg15Gly Uncertain significance Single submitter
- KMT5B p.Arg295Lys Uncertain significance Single submitter
- KMT5B p.Arg357Cys Uncertain significance Single submitter
-
KMT5B p.Arg539Gln
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
-
KMT5B p.Arg721His
Uncertain significance
Single submitter
Inborn genetic diseases
- KMT5B p.Arg722Thr Uncertain significance Single submitter
-
KMT5B p.Arg857Cys
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
-
KMT5B p.Arg874Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- KMT5B p.Arg876Lys Uncertain significance Single submitter
- KMT5B p.Asp372Val Uncertain significance Single submitter
- KMT5B p.Asp878His Uncertain significance Single submitter
- KMT5B p.Gln207Pro Uncertain significance Single submitter
-
KMT5B p.Glu151Lys
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
- KMT5B p.His245Arg Uncertain significance Single submitter
- KMT5B p.Ile130Thr Uncertain significance Single submitter
- KMT5B p.Ile297Val Uncertain significance Single submitter
- KMT5B p.Lys776Thr Uncertain significance Single submitter
-
KMT5B p.Met188Thr
Uncertain significance
Single submitter
intellectual disability, autosomal dominant 51
-
KMT5B p.Ser744Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- KMT5B p.Ser866Cys Uncertain significance Single submitter
- KMT5B p.Val182Leu Likely pathogenic Single submitter
All KMT5B variants
Pathogenic 32
- p.Ala261fs Multiple submitters Inborn genetic diseases
- p.Arg220Ter Multiple submitters Inborn genetic diseases
- p.Arg286Ter Multiple submitters KMT5B-related disorder
- p.Cys78_Glu79delinsTer Multiple submitters Autistic behavior
- p.Leu242fs Multiple submitters intellectual disability, autosomal dominant 51
- p.Lys223fs Multiple submitters intellectual disability, autosomal dominant 51
- p.Arg699Ter Single submitter KMT5B-related disorder
- p.Asn389fs Single submitter
- p.Asn433fs Single submitter intellectual disability, autosomal dominant 51
- p.Asn731fs Single submitter Inborn genetic diseases
- p.Asn798fs Single submitter intellectual disability
- p.Cys305fs Single submitter intellectual disability, autosomal dominant 51
- p.Gln33fs Single submitter intellectual disability, autosomal dominant 51
- p.Glu325Ter Single submitter intellectual disability, autosomal dominant 51
- p.Glu471Ter Single submitter intellectual disability, autosomal dominant 51
- p.Gly576fs Single submitter intellectual disability, autosomal dominant 51
- p.Gly608fs Single submitter intellectual disability, autosomal dominant 51
- p.His512fs Single submitter intellectual disability, autosomal dominant 51
- p.Lys403fs Single submitter intellectual disability, autosomal dominant 51
- p.Lys491Ter Single submitter intellectual disability, autosomal dominant 51
- p.Ser110Ter Single submitter intellectual disability, autosomal dominant 51
- p.Ser614fs Single submitter KMT5B & SUV420H1-related disorders
- p.Ser726fs Single submitter
- p.Thr97fs Single submitter
- p.Tyr203Ter Single submitter intellectual disability
- p.Tyr791Ter Single submitter Inborn genetic diseases
- p.Val252fs Single submitter intellectual disability, autosomal dominant 51
- p.Ala74fs No assertion criteria intellectual disability, autosomal dominant 51
- p.Asn278Ile No assertion criteria intellectual disability, autosomal dominant 51
- p.Asn520fs No assertion criteria intellectual disability, autosomal dominant 51
- p.His181Asp No assertion criteria intellectual disability, autosomal dominant 51
- p.Ser86fs No assertion criteria intellectual disability, autosomal dominant 51
Pathogenic/Likely pathogenic 6
- c.840+1_840+5del Multiple submitters intellectual disability, autosomal dominant 51
- p.Arg187Ter Multiple submitters intellectual disability, autosomal dominant 51
- p.Arg395Ter Multiple submitters intellectual disability, autosomal dominant 51
- p.Arg783Ter Multiple submitters intellectual disability, autosomal dominant 51
- p.Leu808fs Multiple submitters intellectual disability, autosomal dominant 51
- p.Tyr185fs Multiple submitters intellectual disability, autosomal dominant 51
Likely pathogenic 44
- p.Arg812Ter Multiple submitters Inborn genetic diseases
- c.1166_1174+1dup Single submitter intellectual disability, autosomal dominant 51
- c.1175-6_1183del Single submitter
- c.543+1G>A Single submitter
- c.654-4A>G Single submitter KMT5B-related disorder
- c.820+1G>C Single submitter intellectual disability, autosomal dominant 51
- c.821-2A>G Single submitter
- c.977+2T>A Single submitter intellectual disability, autosomal dominant 51
- c.978-1G>T Single submitter Inborn genetic diseases
- p.Ala269Val Single submitter KMT5B-related disorder
- p.Arg143_Phe144insTer Single submitter intellectual disability, autosomal dominant 51
- p.Arg187fs Single submitter
- p.Arg615Ter Single submitter
- p.Asp493fs Single submitter Neurodevelopmental delay
- p.Cys305Tyr Single submitter intellectual disability, autosomal dominant 51
- p.Cys324Gly Single submitter Inborn genetic diseases
- p.Cys324Trp Single submitter intellectual disability, autosomal dominant 51
- p.Gln33Ter Single submitter KMT5B-related disorder
- p.Gln413fs Single submitter
- p.Glu302Lys Single submitter intellectual disability, autosomal dominant 51
- p.Glu302Ter Single submitter complex neurodevelopmental disorder
- p.Glu833Ter Single submitter
- p.Gly209Arg Single submitter
- p.Gly524fs Single submitter
- p.Gly647fs Single submitter KMT5B-related disorder
- p.His273fs Single submitter
- p.Ile197Thr Single submitter intellectual disability, autosomal dominant 51
- p.Ile212fs Single submitter intellectual disability, autosomal dominant 51
- p.Ile271Met Single submitter
- p.Ile432fs Single submitter intellectual disability, autosomal dominant 51
- p.Leu263Phe Single submitter intellectual disability, autosomal dominant 51
- p.Leu410fs Single submitter KMT5B-related disorder
- p.Leu475fs Single submitter intellectual disability, autosomal dominant 51
- p.Lys155fs Single submitter intellectual disability, autosomal dominant 51
- p.Phe311Leu Single submitter intellectual disability, autosomal dominant 51
- p.Ser120fs Single submitter
- p.Trp162Ter Single submitter intellectual disability, autosomal dominant 51
- p.Trp218Ter Single submitter Inborn genetic diseases
- p.Val182Leu Single submitter ⚠
- c.438_439ins[TCTT;KT192064.1:1_310] No assertion criteria KMT5B-related neurodevelopmental disorder
- p.Gln519fs No assertion criteria
- p.Glu239del No assertion criteria intellectual disability, autosomal dominant 51
- p.Ile345fs No assertion criteria KMT5B-related disorder
- p.Thr284Ala No assertion criteria intellectual disability, autosomal dominant 51
Conflicting classifications of pathogenicity 8
- p.Ala641Val Single submitter Inborn genetic diseases ⚠
- p.Arg540Gln Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Glu325Lys Single submitter ⚠
- p.Leu32Ter Single submitter KMT5B-related disorder ⚠
- p.Leu561Phe Single submitter Inborn genetic diseases ⚠
- p.Ser866fs Single submitter ⚠
- p.Thr569Met Single submitter Inborn genetic diseases ⚠
- p.Tyr307His Single submitter Global developmental delay ⚠
Benign 6
- c.544-19dup Multiple submitters intellectual disability, autosomal dominant 51
- p.Arg187= Multiple submitters
- p.Thr679= Multiple submitters
- p.Asp844del Single submitter
- p.Ser527Leu Single submitter
- p.Ser575del Single submitter
Benign/Likely benign 1
- p.Arg128= Multiple submitters
Likely benign 56
- c.309-5_309-2del Multiple submitters intellectual disability, autosomal dominant 51
- p.Arg615= Multiple submitters
- p.Asn433Ser Multiple submitters
- p.Asn756Ser Multiple submitters Inborn genetic diseases
- p.Gln413= Multiple submitters
- p.Gln596Glu Multiple submitters Inborn genetic diseases
- p.Glu589Gln Multiple submitters Inborn genetic diseases
- p.Pro521Leu Multiple submitters Inborn genetic diseases
- p.Val661Met Multiple submitters Inborn genetic diseases
- c.160+9A>G Single submitter
- p.Ala104Thr Single submitter Inborn genetic diseases
- p.Ala232= Single submitter
- p.Ala340Val Single submitter
- p.Ala46Thr Single submitter
- p.Ala502= Single submitter
- p.Ala503= Single submitter
- p.Ala551Ser Single submitter Inborn genetic diseases
- p.Ala591Thr Single submitter
- p.Ala641Thr Single submitter Inborn genetic diseases
- p.Arg164= Single submitter
- p.Arg460= Single submitter
- p.Arg539= Single submitter
- p.Arg783Gln Single submitter Inborn genetic diseases
- p.Arg812Gln Single submitter
- p.Asn884Ser Single submitter
- p.Asp574Asn Single submitter
- p.Asp639= Single submitter
- p.Cys319= Single submitter
- p.Gln616= Single submitter
- p.Glu588Lys Single submitter
- p.Glu628= Single submitter
- p.Glu823= Single submitter
- p.Gly529= Single submitter
- p.Gly617= Single submitter
- p.Leu477= Single submitter
- p.Leu89= Single submitter
- p.Lys604Glu Single submitter
- p.Pro444= Single submitter
- p.Pro854Ala Single submitter
- p.Ser531Arg Single submitter
- p.Ser532= Single submitter
- p.Ser532Leu Single submitter
- p.Ser664= Single submitter
- p.Ser832del Single submitter
- p.Thr411= Single submitter
- p.Thr569= Single submitter
- p.Thr607= Single submitter
- p.Thr666= Single submitter
- p.Tyr821Cys Single submitter
- p.Val401= Single submitter
- p.Val642= Single submitter
- p.Val673= Single submitter
- c.377+4G>A No assertion criteria KMT5B-related disorder
- p.Ala503Thr No assertion criteria KMT5B-related disorder
- p.Asn753= No assertion criteria KMT5B-related disorder
- p.Ser116Pro No assertion criteria KMT5B-related disorder
Uncertain significance 140
- p.Arg540Trp Multiple submitters intellectual disability, autosomal dominant 51 ⚠
- p.Asn394Lys Multiple submitters KMT5B-related disorder ⚠
- p.Asp844_Phe845insAsp Multiple submitters Inborn genetic diseases
- p.Asp848Asn Multiple submitters intellectual disability, autosomal dominant 51 ⚠
- p.Glu877fs Multiple submitters intellectual disability, autosomal dominant 51
- p.Ser397Tyr Multiple submitters intellectual disability, autosomal dominant 51 ⚠
- p.Tyr166Cys Multiple submitters Inborn genetic diseases ⚠
- c.1174+1575C>G Single submitter intellectual disability, autosomal dominant 51
- c.160+2_160+3insGTCGAACAGATGTGTGTA Single submitter
- c.161-4A>G Single submitter
- c.377+4G>T Single submitter
- c.378-3C>G Single submitter
- c.378-5T>C Single submitter Inborn genetic diseases
- c.543+6T>C Single submitter
- c.840+7_840+8insGTAAGCAA Single submitter
- c.978-3C>A Single submitter
- p.Ala293Pro Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Ala293Val Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Ala420Thr Single submitter ⚠
- p.Ala513Val Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Ala514Val Single submitter Inborn genetic diseases ⚠
- p.Ala692Thr Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Arg143Cys Single submitter ⚠
- p.Arg15Gly Single submitter ⚠
- p.Arg286Ser Single submitter
- p.Arg295Lys Single submitter ⚠
- p.Arg357Cys Single submitter ⚠
- p.Arg395Gln Single submitter ⚠
- p.Arg539Gln Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Arg539Trp Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Arg721His Single submitter Inborn genetic diseases ⚠
- p.Arg722Thr Single submitter ⚠
- p.Arg857Cys Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Arg874Lys Single submitter Inborn genetic diseases ⚠
- p.Arg876Lys Single submitter ⚠
- p.Asn123Tyr Single submitter ⚠
- p.Asn201Asp Single submitter ⚠
- p.Asn404Ser Single submitter ⚠
- p.Asn711Asp Single submitter ⚠
- p.Asn753del Single submitter intellectual disability, autosomal dominant 51
- p.Asn9Thr Single submitter ⚠
- p.Asp147Gly Single submitter ⚠
- p.Asp372Val Single submitter ⚠
- p.Asp493Val Single submitter ⚠
- p.Asp736Tyr Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Asp828del Single submitter
- p.Asp843Glu Single submitter ⚠
- p.Asp878His Single submitter ⚠
- p.Asp90Asn Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Asp90Glu Single submitter ⚠
- p.Cys305Arg Single submitter ⚠
- p.Cys305del Single submitter
- p.Cys319Tyr Single submitter ⚠
- p.Cys458Gly Single submitter ⚠
- p.Cys54Trp Single submitter Inborn genetic diseases ⚠
- p.Cys668Ser Single submitter ⚠
- p.Cys78Arg Single submitter Inborn genetic diseases ⚠
- p.Gln207Pro Single submitter ⚠
- p.Gln652Glu Single submitter ⚠
- p.Glu151Lys Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Glu48Lys Single submitter Inborn genetic diseases ⚠
- p.Glu824fs Single submitter intellectual disability, autosomal dominant 51
- p.Glu838del Single submitter intellectual disability, autosomal dominant 51
- p.Gly194Arg Single submitter ⚠
- p.Gly209Val Single submitter ⚠
- p.Gly266Asp Single submitter ⚠
- p.Gly308Glu Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Gly507Glu Single submitter
- p.Gly674Asp Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Gly674Ser Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Gly674Val Single submitter ⚠
- p.Gly789Trp Single submitter ⚠
- p.His181Arg Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.His245Arg Single submitter ⚠
- p.His592Tyr Single submitter KMT5B-related disorder ⚠
- p.Ile130_Lys131insPhe Single submitter intellectual disability, autosomal dominant 51
- p.Ile130Thr Single submitter ⚠
- p.Ile184Val Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Ile297Val Single submitter ⚠
- p.Leu137Pro Single submitter ⚠
- p.Leu168Val Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Leu410Ter Single submitter intellectual disability, autosomal dominant 51
- p.Leu757fs Single submitter
- p.Leu77Phe Single submitter ⚠
- p.Leu795Ile Single submitter KMT5B-related disorder ⚠
- p.Leu808Arg Single submitter ⚠
- p.Lys363Arg Single submitter ⚠
- p.Lys403Arg Single submitter ⚠
- p.Lys451Glu Single submitter ⚠
- p.Lys611Glu Single submitter ⚠
- p.Lys697del Single submitter
- p.Lys717Arg Single submitter ⚠
- p.Lys776Thr Single submitter ⚠
- p.Met188Thr Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Met253Leu Single submitter ⚠
- p.Met415Leu Single submitter ⚠
- p.Met472Val Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Phe689Leu Single submitter ⚠
- p.Pro444Arg Single submitter ⚠
- p.Pro444Thr Single submitter ⚠
- p.Pro571Arg Single submitter ⚠
- p.Pro672Ser Single submitter Inborn genetic diseases ⚠
- p.Pro805Ser Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Ser118Asn Single submitter ⚠
- p.Ser435Pro Single submitter ⚠
- p.Ser567Arg Single submitter ⚠
- p.Ser682Arg Single submitter Inborn genetic diseases ⚠
- p.Ser728del Single submitter
- p.Ser740Pro Single submitter ⚠
- p.Ser744Asn Single submitter Inborn genetic diseases ⚠
- p.Ser773Arg Single submitter ⚠
- p.Ser7Phe Single submitter
- p.Ser803Asn Single submitter ⚠
- p.Ser825Asn Single submitter ⚠
- p.Ser830Phe Single submitter ⚠
- p.Ser831Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser832Pro Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Ser866Cys Single submitter ⚠
- p.Thr191Ala Single submitter ⚠
- p.Thr409Lys Single submitter KMT5B-related neurodevelopmental disorder ⚠
- p.Thr607Ile Single submitter ⚠
- p.Thr630Asn Single submitter ⚠
- p.Trp264Ser Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Tyr485Phe Single submitter ⚠
- p.Tyr564Cys Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Tyr564His Single submitter intellectual disability, autosomal dominant 51 ⚠
- p.Tyr841fs Single submitter
- p.Val140Ile Single submitter ⚠
- p.Val282Ala Single submitter ⚠
- p.Val47Phe Single submitter ⚠
- p.Val482Gly Single submitter ⚠
- p.Val632Leu Single submitter ⚠
- p.Val661Leu Single submitter ⚠
- c.-76-8323_-76-8288del No assertion criteria schizophrenia
- p.Arg286Gln No assertion criteria intellectual disability, autosomal dominant 51 ⚠
- p.Arg327Trp No assertion criteria KMT5B-related disorder ⚠
- p.Arg812Pro No assertion criteria intellectual disability, autosomal dominant 51 ⚠
- p.Asp839Asn No assertion criteria KMT5B-related disorder ⚠
- p.Phe311fs No assertion criteria Language retardation
- p.Trp218Arg No assertion criteria KMT5B-related disorder ⚠