PHF6 — 278 ClinVar variants
All ClinVar germline PHF6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 100 flagged for review →
36 Pathogenic · 22 Likely pathogenic · 8 Conflicting · 17 Benign · 7 Benign/Likely benign · 78 Likely benign · 110 Uncertain significance
Full PHF6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 100
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PHF6 p.Ala140Thr
Pathogenic
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Glu139Asp
Pathogenic
Single submitter
Borjeson-Forssman-Lehmann syndrome
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PHF6 p.His136Arg
Conflicting
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Ile230Val
Conflicting
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Lys349Glu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 59
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PHF6 p.Arg163His
Uncertain significance
Multiple submitters
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Arg166Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHF6 p.Arg24Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHF6 p.Asn59Ser
Uncertain significance
Multiple submitters
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Gln114His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHF6 p.Gln30Arg
Uncertain significance
Multiple submitters
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.His104Arg Uncertain significance Multiple submitters
-
PHF6 p.His104Asp
Uncertain significance
Multiple submitters
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Pro11Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHF6 p.Ser83Ala
Uncertain significance
Multiple submitters
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Thr289Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHF6 p.Thr78Met
Uncertain significance
Multiple submitters
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.Ala140Val Uncertain significance Single submitter
-
PHF6 p.Arg15His
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.Arg274Gln Uncertain significance Single submitter
-
PHF6 p.Arg319Pro
Uncertain significance
Single submitter
Macrocephaly
- PHF6 p.Asn137Ser Uncertain significance Single submitter
-
PHF6 p.Asn147Ile
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.Asn171Asp Uncertain significance Single submitter
-
PHF6 p.Asn171Ile
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Asp197Glu
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.Asp25Glu Uncertain significance Single submitter
-
PHF6 p.Asp353Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHF6 p.Cys128Tyr
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Cys242Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHF6 p.Cys283Tyr
Uncertain significance
Single submitter
PHF6-related disorder
- PHF6 p.Cys326Tyr Uncertain significance Single submitter
- PHF6 p.Gln121Leu Uncertain significance Single submitter
-
PHF6 p.Gln7Arg
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Glu144Gly
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Glu150Val
Uncertain significance
Single submitter
Developmental disorder
- PHF6 p.Glu60Gly Uncertain significance Single submitter
-
PHF6 p.Gly29Ala
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.His100Tyr Uncertain significance Single submitter
- PHF6 p.His239Leu Uncertain significance Single submitter
- PHF6 p.His329Arg Uncertain significance Single submitter
-
PHF6 p.Ile123Met
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.Ile67Val Uncertain significance Single submitter
-
PHF6 p.Leu357Arg
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.Lys157Arg Uncertain significance Single submitter
- PHF6 p.Lys26Met Uncertain significance Single submitter
-
PHF6 p.Lys299Arg
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Lys349Asn
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Met125Ile
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Met125Leu
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.Ser145Asn Uncertain significance Single submitter
-
PHF6 p.Ser193Cys
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Ser206Asn
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Ser3Gly
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.Thr170Ala Uncertain significance Single submitter
-
PHF6 p.Thr358Asn
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Thr91Ala
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Cys87Tyr
Uncertain significance
No assertion criteria
PHF6-related disorder
-
PHF6 p.Glu340Gly
Uncertain significance
No assertion criteria
Global developmental delay
-
PHF6 p.Gly275Arg
Uncertain significance
No assertion criteria
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.His149Asn
Uncertain significance
No assertion criteria
PHF6-related disorder
-
PHF6 p.Lys132Arg
Uncertain significance
No assertion criteria
PHF6-related disorder
-
PHF6 p.Lys157Glu
Uncertain significance
No assertion criteria
PHF6-related disorder
-
PHF6 p.Lys234Arg
Uncertain significance
No assertion criteria
PHF6-related disorder
Predictors split 36
The independent predictors disagree with each other — read with care.
-
PHF6 p.Arg163Cys
Likely benign
Multiple submitters
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Glu351Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PHF6 p.Tyr127Cys
Uncertain significance
Multiple submitters
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Ala41Val
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.Ala51Asp Uncertain significance Single submitter
- PHF6 p.Arg225Gln Uncertain significance Single submitter
-
PHF6 p.Arg257Gly
Pathogenic
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Arg277Gly
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Arg319Gln
Uncertain significance
Single submitter
obesity disorder
-
PHF6 p.Arg335Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHF6 p.Asn316Ile
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.Asp111Asn Uncertain significance Single submitter
-
PHF6 p.Asp339Asn
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Asp69Asn
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.Gly248Asp Uncertain significance Single submitter
-
PHF6 p.Gly320Arg
Likely pathogenic
Single submitter
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.Gly331Arg Uncertain significance Single submitter
- PHF6 p.His43Pro Uncertain significance Single submitter
- PHF6 p.Leu244Phe Uncertain significance Single submitter
- PHF6 p.Leu252Pro Uncertain significance Single submitter
- PHF6 p.Lys21Thr Uncertain significance Single submitter
-
PHF6 p.Lys234Gln
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.Lys266Thr Uncertain significance Single submitter
- PHF6 p.Lys295Glu Uncertain significance Single submitter
- PHF6 p.Lys38Asn Uncertain significance Single submitter
- PHF6 p.Met46Ile Uncertain significance Single submitter
-
PHF6 p.Phe263Leu
Likely pathogenic
Single submitter
Borjeson-Forssman-Lehmann syndrome
- PHF6 p.Ser247Tyr Uncertain significance Single submitter
- PHF6 p.Ser256Leu Uncertain significance Single submitter
-
PHF6 p.Thr253Arg
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Thr254Ile
Uncertain significance
Single submitter
PHF6-related disorder
-
PHF6 p.Val268Leu
Likely pathogenic
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Val53Leu
Uncertain significance
Single submitter
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Gly248Val
Pathogenic
No assertion criteria
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.His229Arg
Pathogenic
No assertion criteria
Borjeson-Forssman-Lehmann syndrome
-
PHF6 p.Lys234Glu
Pathogenic
No assertion criteria
Borjeson-Forssman-Lehmann syndrome
All PHF6 variants
Pathogenic 36
- p.Arg116Ter Multiple submitters Borjeson-Forssman-Lehmann syndrome
- p.Arg225Ter Multiple submitters Inborn genetic diseases
- p.Arg274Ter Multiple submitters Inborn genetic diseases
- p.Arg342Ter Multiple submitters Borjeson-Forssman-Lehmann syndrome
- p.Cys45Tyr Multiple submitters Borjeson-Forssman-Lehmann syndrome
- p.Met1Thr Multiple submitters Borjeson-Forssman-Lehmann syndrome
- c.241-5_255del Single submitter Inborn genetic diseases
- c.375-1G>A Single submitter
- c.585+1G>A Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Ala140Thr Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Arg129Ter Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Arg257Gly Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Arg277fs Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Arg319Ter Single submitter
- p.Asp333_Glu334insTer Single submitter
- p.Cys107fs Single submitter PHF6-related disorder
- p.Cys305_Gly306delinsTer Single submitter Inborn genetic diseases
- p.Gln30Ter Single submitter
- p.Glu139Asp Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Glu139Ter Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Glu223Ter Single submitter Inborn genetic diseases
- p.Gly29Ter Single submitter
- p.Met1Ile Single submitter
- p.Pro11fs Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Ser155Ter Single submitter
- p.Ser61fs Single submitter Borjeson-Forssman-Lehmann syndrome
- c.139-8A>G No assertion criteria Borjeson-Forssman-Lehmann syndrome
- p.Cys297Phe No assertion criteria Borjeson-Forssman-Lehmann syndrome
- p.Cys305Phe No assertion criteria Borjeson-Forssman-Lehmann syndrome
- p.Cys85Ter No assertion criteria Borjeson-Forssman-Lehmann syndrome
- p.Cys99Phe No assertion criteria Borjeson-Forssman-Lehmann syndrome
- p.Gly10fs No assertion criteria Borjeson-Forssman-Lehmann syndrome
- p.Gly248Val No assertion criteria Borjeson-Forssman-Lehmann syndrome ⚠
- p.His229Arg No assertion criteria Borjeson-Forssman-Lehmann syndrome ⚠
- p.Lys234Glu No assertion criteria Borjeson-Forssman-Lehmann syndrome ⚠
- p.Lys8Ter No assertion criteria Borjeson-Forssman-Lehmann syndrome
Likely pathogenic 22
- c.139-2A>G Single submitter Borjeson-Forssman-Lehmann syndrome
- c.729+2T>C Single submitter Borjeson-Forssman-Lehmann syndrome
- c.834+2T>G Single submitter PHF6-related disorder
- c.-46-2A>G Single submitter Early onset severe obesity
- p.Cys292Tyr Single submitter
- p.Gln14Ter Single submitter PHF6-related disorder
- p.Glu341Gly Single submitter intellectual disability
- p.Gly186Ter Single submitter
- p.Gly320Arg Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.His131Leu Single submitter
- p.His302Tyr Single submitter Inborn genetic diseases
- p.Ile314Val Single submitter
- p.Leu52= Single submitter
- p.Lys310_Ala311insTer Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Phe263Leu Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Ser22Ter Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Tyr322Ser Single submitter Inborn genetic diseases
- p.Tyr322Ter Single submitter
- p.Val126fs Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Val268Leu Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.His42Arg No assertion criteria Borjeson-Forssman-Lehmann syndrome
- p.Ser49Leu No assertion criteria Borjeson-Forssman-Lehmann syndrome
Conflicting classifications of pathogenicity 8
- c.729+4A>G Single submitter Inborn genetic diseases
- p.Asn363= Single submitter Inborn genetic diseases
- p.Asp309= Single submitter Inborn genetic diseases
- p.His136Arg Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Ile230Val Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Lys349Glu Single submitter Inborn genetic diseases ⚠
- p.Ser138= Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Thr78= Single submitter Borjeson-Forssman-Lehmann syndrome
Benign 17
- c.139-47G>A Multiple submitters Borjeson-Forssman-Lehmann syndrome
- c.241-13C>T Multiple submitters Borjeson-Forssman-Lehmann syndrome
- c.374+8T>C Multiple submitters Borjeson-Forssman-Lehmann syndrome
- c.418+134A>C Multiple submitters
- c.240+10T>C Single submitter Borjeson-Forssman-Lehmann syndrome
- c.241-17T>C Single submitter Borjeson-Forssman-Lehmann syndrome
- c.241-20A>G Single submitter Borjeson-Forssman-Lehmann syndrome
- c.374+122A>G Single submitter
- c.374+16_374+20del Single submitter Borjeson-Forssman-Lehmann syndrome
- c.418+204C>T Single submitter
- c.419-242A>C Single submitter
- c.585+14dup Single submitter Borjeson-Forssman-Lehmann syndrome
- c.586-18T>C Single submitter Borjeson-Forssman-Lehmann syndrome
- c.834+53_834+58del Single submitter Inborn genetic diseases
- p.Ala238= Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Ala296= Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Thr179= Single submitter Borjeson-Forssman-Lehmann syndrome
Benign/Likely benign 7
- c.138+10C>T Multiple submitters Borjeson-Forssman-Lehmann syndrome
- c.139-11_139-7del Multiple submitters Borjeson-Forssman-Lehmann syndrome
- c.730-11T>G Multiple submitters Borjeson-Forssman-Lehmann syndrome
- p.His216= Multiple submitters Inborn genetic diseases
- p.Ile92Val Multiple submitters Borjeson-Forssman-Lehmann syndrome
- p.Lys133= Multiple submitters Borjeson-Forssman-Lehmann syndrome
- p.Lys8= Multiple submitters Borjeson-Forssman-Lehmann syndrome
Likely benign 78
- c.419-16G>C Multiple submitters Borjeson-Forssman-Lehmann syndrome
- c.834+87A>C Multiple submitters
- c.968+279C>T Multiple submitters
- c.*1098+99T>C Multiple submitters
- p.Arg163Cys Multiple submitters Borjeson-Forssman-Lehmann syndrome ⚠
- p.Cys28= Multiple submitters Borjeson-Forssman-Lehmann syndrome
- p.Ser176= Multiple submitters Borjeson-Forssman-Lehmann syndrome
- p.Thr254= Multiple submitters Borjeson-Forssman-Lehmann syndrome
- c.138+11C>T Single submitter Borjeson-Forssman-Lehmann syndrome
- c.139-13del Single submitter Borjeson-Forssman-Lehmann syndrome
- c.139-15A>T Single submitter Borjeson-Forssman-Lehmann syndrome
- c.139-4A>G Single submitter intellectual disability
- c.139-8A>C Single submitter Borjeson-Forssman-Lehmann syndrome
- c.241-12G>A Single submitter
- c.241-18T>C Single submitter Borjeson-Forssman-Lehmann syndrome
- c.241-7G>T Single submitter Borjeson-Forssman-Lehmann syndrome
- c.374+17T>C Single submitter Borjeson-Forssman-Lehmann syndrome
- c.374+21dup Single submitter Borjeson-Forssman-Lehmann syndrome
- c.374+22_374+26del Single submitter Borjeson-Forssman-Lehmann syndrome
- c.375-4del Single submitter Borjeson-Forssman-Lehmann syndrome
- c.418+17C>T Single submitter Borjeson-Forssman-Lehmann syndrome
- c.418+196del Single submitter
- c.419-145T>C Single submitter
- c.419-159T>C Single submitter
- c.419-16G>A Single submitter Borjeson-Forssman-Lehmann syndrome
- c.419-17T>C Single submitter Borjeson-Forssman-Lehmann syndrome
- c.585+12A>C Single submitter Borjeson-Forssman-Lehmann syndrome
- c.585+14A>C Single submitter Borjeson-Forssman-Lehmann syndrome
- c.585+8A>G Single submitter Borjeson-Forssman-Lehmann syndrome
- c.586-14T>C Single submitter Borjeson-Forssman-Lehmann syndrome
- c.586-63T>C Single submitter
- c.729+109A>T Single submitter
- c.729+272G>A Single submitter
- c.730-14T>C Single submitter Borjeson-Forssman-Lehmann syndrome
- c.730-15A>G Single submitter Borjeson-Forssman-Lehmann syndrome
- c.730-16C>A Single submitter Borjeson-Forssman-Lehmann syndrome
- c.834+39G>A Single submitter
- c.834+87A>G Single submitter
- c.834+96A>G Single submitter
- c.835-16C>A Single submitter Borjeson-Forssman-Lehmann syndrome
- c.-46-338TATC[2] Single submitter
- c.-47+8C>T Single submitter
- p.Ala108= Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Ala41= Single submitter Inborn genetic diseases
- p.Asn232= Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Asn332= Single submitter
- p.Asp178= Single submitter
- p.Asp339= Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Gly291= Single submitter
- p.His329= Single submitter
- p.Ile290= Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Leu175= Single submitter Inborn genetic diseases
- p.Lys118= Single submitter
- p.Lys44= Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Ser34= Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Ser49= Single submitter
- p.Thr208= Single submitter
- p.Thr208Ile Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Thr255= Single submitter
- p.Thr98= Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Val250= Single submitter
- p.Val268= Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Val53= Single submitter Inborn genetic diseases
- c.241-3T>C No assertion criteria PHF6-related disorder
- c.418+7C>A No assertion criteria PHF6-related disorder
- c.730-8T>C No assertion criteria PHF6-related disorder
- c.834+105C>T No assertion criteria PHF6-related disorder
- c.834+109T>C No assertion criteria PHF6-related disorder
- c.834+24T>C No assertion criteria PHF6-related disorder
- c.834+28A>G No assertion criteria PHF6-related disorder
- c.*1098+4T>C No assertion criteria PHF6-related disorder
- p.Arg13= No assertion criteria PHF6-related disorder
- p.Cys215= No assertion criteria PHF6-related disorder
- p.Lys159Arg No assertion criteria PHF6-related disorder
- p.Lys16= No assertion criteria PHF6-related disorder
- p.Pro153= No assertion criteria PHF6-related disorder
- p.Ser3= No assertion criteria PHF6-related disorder
- p.Val298= No assertion criteria PHF6-related disorder
Uncertain significance 110
- p.Arg163His Multiple submitters Borjeson-Forssman-Lehmann syndrome ⚠
- p.Arg166Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg24Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asn59Ser Multiple submitters Borjeson-Forssman-Lehmann syndrome ⚠
- p.Gln114His Multiple submitters Inborn genetic diseases ⚠
- p.Gln30Arg Multiple submitters Borjeson-Forssman-Lehmann syndrome ⚠
- p.Glu351Gly Multiple submitters Inborn genetic diseases ⚠
- p.His104Arg Multiple submitters ⚠
- p.His104Asp Multiple submitters Borjeson-Forssman-Lehmann syndrome ⚠
- p.His43Arg Multiple submitters Inborn genetic diseases
- p.Pro11Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser256del Multiple submitters Borjeson-Forssman-Lehmann syndrome
- p.Ser83Ala Multiple submitters Borjeson-Forssman-Lehmann syndrome ⚠
- p.Thr255del Multiple submitters Borjeson-Forssman-Lehmann syndrome
- p.Thr289Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr78Met Multiple submitters Borjeson-Forssman-Lehmann syndrome ⚠
- p.Tyr127Cys Multiple submitters Borjeson-Forssman-Lehmann syndrome ⚠
- c.138+4A>G Single submitter Borjeson-Forssman-Lehmann syndrome
- c.418+4C>T Single submitter
- c.729+5G>A Single submitter
- c.834+46T>C Single submitter
- c.969-6T>G Single submitter Borjeson-Forssman-Lehmann syndrome
- c.-47+5G>A Single submitter Borjeson-Forssman-Lehmann syndrome
- c.*1109C>G Single submitter
- p.Ala140Val Single submitter ⚠
- p.Ala236Thr Single submitter
- p.Ala41Val Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Ala51Asp Single submitter ⚠
- p.Arg15His Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Arg225Gln Single submitter ⚠
- p.Arg274Gln Single submitter ⚠
- p.Arg277Gly Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Arg319Gln Single submitter obesity disorder ⚠
- p.Arg319Pro Single submitter Macrocephaly ⚠
- p.Arg335Ile Single submitter Inborn genetic diseases ⚠
- p.Asn137Ser Single submitter ⚠
- p.Asn147Ile Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Asn171Asp Single submitter ⚠
- p.Asn171Ile Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Asn316Ile Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Asp111Asn Single submitter ⚠
- p.Asp197Glu Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Asp25Glu Single submitter ⚠
- p.Asp333del Single submitter
- p.Asp339Asn Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Asp353Gly Single submitter Inborn genetic diseases ⚠
- p.Asp69= Single submitter
- p.Asp69Asn Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Cys128Tyr Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Cys242Arg Single submitter Inborn genetic diseases ⚠
- p.Cys283Tyr Single submitter PHF6-related disorder ⚠
- p.Cys326Tyr Single submitter ⚠
- p.Gln121Leu Single submitter ⚠
- p.Gln361del Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Gln7Arg Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Glu144Gly Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Glu150Val Single submitter Developmental disorder ⚠
- p.Glu338del Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Glu341del Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Glu343_Ser344insTer Single submitter Neurodevelopmental abnormality
- p.Glu343fs Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Glu60Gly Single submitter ⚠
- p.Gly248Asp Single submitter ⚠
- p.Gly29Ala Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Gly331Arg Single submitter ⚠
- p.His100Tyr Single submitter ⚠
- p.His106_Cys107insTyrHis Single submitter
- p.His239Leu Single submitter ⚠
- p.His329Arg Single submitter ⚠
- p.His43Pro Single submitter ⚠
- p.Ile123Met Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Ile67Val Single submitter ⚠
- p.Leu244Phe Single submitter ⚠
- p.Leu252Pro Single submitter ⚠
- p.Leu357Arg Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Lys157Arg Single submitter ⚠
- p.Lys21Thr Single submitter ⚠
- p.Lys234Gln Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Lys266Thr Single submitter ⚠
- p.Lys26Met Single submitter ⚠
- p.Lys295Glu Single submitter ⚠
- p.Lys299Arg Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Lys349Asn Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Lys38Asn Single submitter ⚠
- p.Lys38fs Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Met125Ile Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Met125Leu Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Met125Lys Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Met1Lys Single submitter Borjeson-Forssman-Lehmann syndrome
- p.Met46Ile Single submitter ⚠
- p.Ser145Asn Single submitter ⚠
- p.Ser193Cys Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Ser206Asn Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Ser247Tyr Single submitter ⚠
- p.Ser256Leu Single submitter ⚠
- p.Ser3Gly Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Thr170Ala Single submitter ⚠
- p.Thr253Arg Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Thr254Ile Single submitter PHF6-related disorder ⚠
- p.Thr358Asn Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Thr91Ala Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- p.Val53Leu Single submitter Borjeson-Forssman-Lehmann syndrome ⚠
- c.834+62T>C No assertion criteria PHF6-related disorder
- p.Cys87Tyr No assertion criteria PHF6-related disorder ⚠
- p.Glu340Gly No assertion criteria Global developmental delay ⚠
- p.Gly275Arg No assertion criteria Borjeson-Forssman-Lehmann syndrome ⚠
- p.His149Asn No assertion criteria PHF6-related disorder ⚠
- p.Lys132Arg No assertion criteria PHF6-related disorder ⚠
- p.Lys157Glu No assertion criteria PHF6-related disorder ⚠
- p.Lys234Arg No assertion criteria PHF6-related disorder ⚠