DPF2 — 258 ClinVar variants
All ClinVar germline DPF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →
8 Pathogenic · 11 Likely pathogenic · 13 Conflicting · 12 Benign · 3 Benign/Likely benign · 105 Likely benign · 106 Uncertain significance
Full DPF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 108
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 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DPF2 p.Ala153Val
Conflicting
Single submitter
Inborn genetic diseases
- DPF2 p.Arg350Cys Conflicting Single submitter
-
DPF2 p.Cys295Tyr
Conflicting
Single submitter
Coffin-Siris syndrome 7
-
DPF2 p.Glu290Lys
Conflicting
Single submitter
Inborn genetic diseases
-
DPF2 p.Gly69Arg
Conflicting
Single submitter
Inborn genetic diseases
-
DPF2 p.Ile98Val
Conflicting
Single submitter
Inborn genetic diseases
-
DPF2 p.Leu111Pro
Conflicting
Single submitter
Inborn genetic diseases
-
DPF2 p.Pro134Leu
Conflicting
Single submitter
Inborn genetic diseases
- DPF2 p.Pro365Arg Conflicting Single submitter
Predictors lean, ClinVar uncertain 69
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DPF2 p.Ala133Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPF2 p.Arg77Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPF2 p.Arg83Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPF2 p.Asn26Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPF2 p.Asp141Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DPF2 p.Asp175Val Uncertain significance Multiple submitters
-
DPF2 p.Glu173Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPF2 p.Pro87Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DPF2 p.Ala133Thr Uncertain significance Single submitter
- DPF2 p.Ala315Val Uncertain significance Single submitter
- DPF2 p.Ala3Thr Uncertain significance Single submitter
-
DPF2 p.Arg124His
Uncertain significance
Single submitter
Inborn genetic diseases
- DPF2 p.Arg179His Uncertain significance Single submitter
- DPF2 p.Arg180Trp Uncertain significance Single submitter
- DPF2 p.Arg194Cys Uncertain significance Single submitter
- DPF2 p.Arg217Cys Uncertain significance Single submitter
- DPF2 p.Arg30Cys Uncertain significance Single submitter
- DPF2 p.Arg321Cys Uncertain significance Single submitter
- DPF2 p.Arg321Gly Uncertain significance Single submitter
- DPF2 p.Arg38His Uncertain significance Single submitter
- DPF2 p.Arg80Gln Uncertain significance Single submitter
- DPF2 p.Arg83Pro Uncertain significance Single submitter
-
DPF2 p.Asn150Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPF2 p.Asn270Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DPF2 p.Asn52Ile Uncertain significance Single submitter
-
DPF2 p.Asn7Asp
Uncertain significance
Single submitter
DPF2-related disorder
- DPF2 p.Asp139Val Uncertain significance Single submitter
-
DPF2 p.Asp171Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- DPF2 p.Asp206His Uncertain significance Single submitter
- DPF2 p.Asp206Val Uncertain significance Single submitter
-
DPF2 p.Asp274Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPF2 p.Asp349His
Uncertain significance
Single submitter
Coffin-Siris syndrome 7
-
DPF2 p.Asp349Tyr
Uncertain significance
Single submitter
Coffin-Siris syndrome 7
- DPF2 p.Cys295Ser Uncertain significance Single submitter
- DPF2 p.Gln114Arg Uncertain significance Single submitter
-
DPF2 p.Gln245Glu
Uncertain significance
Single submitter
Coffin-Siris syndrome 7
-
DPF2 p.Glu145Lys
Uncertain significance
Single submitter
Coffin-Siris syndrome
-
DPF2 p.Glu170Gln
Uncertain significance
Single submitter
Coffin-Siris syndrome 7
- DPF2 p.Glu237Asp Uncertain significance Single submitter
- DPF2 p.Glu237Gln Uncertain significance Single submitter
- DPF2 p.Glu237Lys Uncertain significance Single submitter
- DPF2 p.Glu255Gln Uncertain significance Single submitter
-
DPF2 p.Glu380Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPF2 p.Gly238Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPF2 p.Gly262Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DPF2 p.Gly334Ser Uncertain significance Single submitter
-
DPF2 p.Gly47Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPF2 p.His353Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPF2 p.Ile201Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DPF2 p.Ile325Val Uncertain significance Single submitter
-
DPF2 p.Leu122Val
Uncertain significance
Single submitter
Coffin-Siris syndrome 7
- DPF2 p.Leu167Phe Uncertain significance Single submitter
-
DPF2 p.Lys130Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DPF2 p.Phe95Val Uncertain significance Single submitter
-
DPF2 p.Pro134Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPF2 p.Pro147Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DPF2 p.Pro359Leu Uncertain significance Single submitter
-
DPF2 p.Pro364His
Uncertain significance
Single submitter
Coffin-Siris syndrome 7
-
DPF2 p.Pro96Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DPF2 p.Ser151Gly Uncertain significance Single submitter
- DPF2 p.Ser231Phe Uncertain significance Single submitter
- DPF2 p.Ser254Thr Uncertain significance Single submitter
-
DPF2 p.Ser68Tyr
Uncertain significance
Single submitter
Coffin-Siris syndrome 7
- DPF2 p.Thr102Ile Uncertain significance Single submitter
- DPF2 p.Thr105Asn Uncertain significance Single submitter
- DPF2 p.Thr125Ile Uncertain significance Single submitter
-
DPF2 p.Tyr17Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- DPF2 p.Val4Ala Uncertain significance Single submitter
-
DPF2 p.Gly13Arg
Uncertain significance
No assertion criteria
DPF2-related disorder
Predictors split 30
The independent predictors disagree with each other — read with care.
-
DPF2 p.Arg83Gln
Likely benign
Multiple submitters
Inborn genetic diseases
-
DPF2 p.Gly189Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPF2 p.Ala199Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DPF2 p.Ala267Val Uncertain significance Single submitter
- DPF2 p.Arg124Cys Uncertain significance Single submitter
- DPF2 p.Arg152Gln Uncertain significance Single submitter
- DPF2 p.Arg321His Uncertain significance Single submitter
- DPF2 p.Arg78Cys Uncertain significance Single submitter
- DPF2 p.Asn52Ser Uncertain significance Single submitter
-
DPF2 p.Asp141Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- DPF2 p.Asp161Ala Uncertain significance Single submitter
- DPF2 p.Asp240Tyr Uncertain significance Single submitter
-
DPF2 p.Asp279Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- DPF2 p.Gln23Leu Uncertain significance Single submitter
-
DPF2 p.Gln288His
Uncertain significance
Single submitter
Inborn genetic diseases
- DPF2 p.Glu239Lys Likely benign Single submitter
-
DPF2 p.Ile282Phe
Conflicting
Single submitter
Coffin-Siris syndrome 7
- DPF2 p.Leu377Val Conflicting Single submitter
- DPF2 p.Leu66Phe Uncertain significance Single submitter
- DPF2 p.Lys216Arg Uncertain significance Single submitter
- DPF2 p.Pro249Ala Uncertain significance Single submitter
-
DPF2 p.Pro269Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DPF2 p.Pro311Ala Uncertain significance Single submitter
-
DPF2 p.Ser390Tyr
Conflicting
Single submitter
Coffin-Siris syndrome 7
- DPF2 p.Thr248Asn Uncertain significance Single submitter
- DPF2 p.Thr248Ile Uncertain significance Single submitter
- DPF2 p.Thr286Met Uncertain significance Single submitter
- DPF2 p.Tyr172Cys Uncertain significance Single submitter
-
DPF2 p.Val8Ala
Likely benign
Single submitter
Developmental disorder
-
DPF2 p.Glu120Gly
Uncertain significance
No assertion criteria
DPF2-related disorder
All DPF2 variants
Pathogenic 8
- c.904+1G>A Multiple submitters Inborn genetic diseases
- c.904+1G>T Single submitter Coffin-Siris syndrome 7
- p.Asp346Gly Single submitter Coffin-Siris syndrome 7
- p.Asp349Asn Single submitter
- p.Cys276Phe Single submitter Coffin-Siris syndrome 1
- p.Cys356Gly Single submitter Coffin-Siris syndrome 7
- c.1099+1G>A No assertion criteria Coffin-Siris syndrome 7
- p.Cys330Trp No assertion criteria Coffin-Siris syndrome 7
Likely pathogenic 11
- c.1099+2dup Single submitter Coffin-Siris syndrome 7
- p.Arg300Leu Single submitter Coffin-Siris syndrome 7
- p.Arg350His Single submitter Inborn genetic diseases
- p.Asp346Asn Single submitter
- p.Cys324Gly Single submitter Coffin-Siris syndrome 7
- p.Cys345Gly Single submitter Inborn genetic diseases
- p.Cys356Ser Single submitter Coffin-Siris syndrome 7
- p.Glu236Ter Single submitter Coffin-Siris syndrome 7
- p.Glu326Lys Single submitter Coffin-Siris syndrome 7
- p.Pro365_Glu366insTer Single submitter Coffin-Siris syndrome 7
- p.Trp322Arg Single submitter
Conflicting classifications of pathogenicity 13
- c.904+20C>G Single submitter Coffin-Siris syndrome 7
- p.Ala153Val Single submitter Inborn genetic diseases ⚠
- p.Arg350Cys Single submitter ⚠
- p.Cys295Tyr Single submitter Coffin-Siris syndrome 7 ⚠
- p.Glu290Lys Single submitter Inborn genetic diseases ⚠
- p.Gly69Arg Single submitter Inborn genetic diseases ⚠
- p.Ile282Phe Single submitter Coffin-Siris syndrome 7 ⚠
- p.Ile98Val Single submitter Inborn genetic diseases ⚠
- p.Leu111Pro Single submitter Inborn genetic diseases ⚠
- p.Leu377Val Single submitter ⚠
- p.Pro134Leu Single submitter Inborn genetic diseases ⚠
- p.Pro365Arg Single submitter ⚠
- p.Ser390Tyr Single submitter Coffin-Siris syndrome 7 ⚠
Benign 12
- c.1099+89C>T Multiple submitters
- c.1100-157C>T Multiple submitters
- c.1100-183T>C Multiple submitters
- c.301+3A>G Multiple submitters
- c.465+200A>C Multiple submitters
- p.Arg30= Multiple submitters
- p.Gly278= Multiple submitters
- c.33-4G>T Single submitter
- p.Arg137Gln Single submitter
- p.Asp168Asn Single submitter
- p.Leu31= Single submitter
- p.Ser151Thr Single submitter
Benign/Likely benign 3
- c.302-8G>A Multiple submitters
- p.Ala315= Multiple submitters
- p.Asn7= Multiple submitters
Likely benign 105
- c.302-11C>T Multiple submitters Coffin-Siris syndrome 7
- c.465+5A>G Multiple submitters
- p.Ala153= Multiple submitters
- p.Ala3= Multiple submitters
- p.Arg83Gln Multiple submitters Inborn genetic diseases ⚠
- p.Ser68= Multiple submitters
- c.1017+12C>T Single submitter
- c.1017+13G>A Single submitter
- c.1017+18C>T Single submitter
- c.1017+9C>A Single submitter
- c.1018-16C>T Single submitter
- c.1018-16CT[3] Single submitter
- c.1099+17T>G Single submitter
- c.1099+8G>T Single submitter
- c.1100-10C>G Single submitter
- c.1100-16T>C Single submitter
- c.1100-20C>A Single submitter
- c.193+15T>C Single submitter
- c.194-19A>G Single submitter
- c.194-8T>C Single submitter
- c.301+7C>T Single submitter
- c.301+8A>G Single submitter
- c.302-7C>T Single submitter
- c.302-9T>G Single submitter
- c.32+11G>C Single submitter
- c.32+12T>C Single submitter
- c.32+15C>A Single submitter
- c.32+19C>G Single submitter
- c.32+19C>T Single submitter
- c.32+20_32+23del Single submitter
- c.32+3G>A Single submitter
- c.33-13A>G Single submitter
- c.465+14C>T Single submitter
- c.465+18T>A Single submitter
- c.466-5C>T Single submitter
- c.558+14G>A Single submitter
- c.558+18T>C Single submitter
- c.558+19G>A Single submitter
- c.559-18C>T Single submitter
- c.559-9T>C Single submitter
- c.637+13C>T Single submitter
- c.637+340C>T Single submitter
- c.637+407G>A Single submitter
- c.638-18A>G Single submitter
- c.638-19C>T Single submitter
- c.638-5C>T Single submitter
- c.775+17G>C Single submitter
- c.776-14C>A Single submitter
- c.776-15T>G Single submitter
- c.776-19A>G Single submitter
- c.776-8C>T Single submitter
- c.904+12C>T Single submitter
- c.904+13G>T Single submitter
- c.905-20A>T Single submitter
- c.905-6C>T Single submitter
- c.905-8C>T Single submitter
- p.Ala229= Single submitter
- p.Ala234= Single submitter
- p.Ala316= Single submitter
- p.Ala3Gly Single submitter autism spectrum disorder
- p.Arg62Gln Single submitter
- p.Arg77= Single submitter
- p.Arg78= Single submitter
- p.Arg83= Single submitter
- p.Asn387= Single submitter
- p.Cys333= Single submitter
- p.Cys348= Single submitter
- p.Gln114= Single submitter
- p.Gln308= Single submitter
- p.Glu239Lys Single submitter ⚠
- p.Gly110= Single submitter
- p.Gly13= Single submitter
- p.Gly223= Single submitter
- p.Gly238= Single submitter
- p.Gly287= Single submitter
- p.His353= Single submitter
- p.Leu128= Single submitter
- p.Leu128Arg Single submitter
- p.Leu277= Single submitter
- p.Lys10= Single submitter
- p.Lys188= Single submitter
- p.Lys241= Single submitter
- p.Pro289= Single submitter
- p.Pro304= Single submitter
- p.Pro311= Single submitter
- p.Pro359= Single submitter
- p.Pro365= Single submitter
- p.Pro87= Single submitter
- p.Ser36= Single submitter
- p.Ser362= Single submitter
- p.Ser51= Single submitter
- p.Ser51Asn Single submitter
- p.Ter392= Single submitter
- p.Ter392Cys Single submitter
- p.Thr102= Single submitter
- p.Thr248= Single submitter
- p.Thr286= Single submitter
- p.Thr46= Single submitter
- p.Tyr17= Single submitter
- p.Tyr172= Single submitter
- p.Val8= Single submitter
- p.Val8Ala Single submitter Developmental disorder ⚠
- c.637+541C>T No assertion criteria DPF2-related disorder
- p.Arg35= No assertion criteria DPF2-related disorder
- p.Leu167= No assertion criteria DPF2-related disorder
Uncertain significance 106
- p.Ala133Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg77Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg83Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn26Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp141Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp175Val Multiple submitters ⚠
- p.Glu173Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly189Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro87Arg Multiple submitters Inborn genetic diseases ⚠
- c.194-3C>A Single submitter
- c.301+1del Single submitter
- c.637+139G>A Single submitter
- c.637+304G>A Single submitter
- p.Ala133Thr Single submitter ⚠
- p.Ala199Val Single submitter Inborn genetic diseases ⚠
- p.Ala267Val Single submitter ⚠
- p.Ala315Val Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Arg124Cys Single submitter ⚠
- p.Arg124His Single submitter Inborn genetic diseases ⚠
- p.Arg152Gln Single submitter ⚠
- p.Arg179His Single submitter ⚠
- p.Arg180Trp Single submitter ⚠
- p.Arg194Cys Single submitter ⚠
- p.Arg217Cys Single submitter ⚠
- p.Arg300= Single submitter Coffin-Siris syndrome 7
- p.Arg30Cys Single submitter ⚠
- p.Arg321Cys Single submitter ⚠
- p.Arg321Gly Single submitter ⚠
- p.Arg321His Single submitter ⚠
- p.Arg38His Single submitter ⚠
- p.Arg78Cys Single submitter ⚠
- p.Arg80Gln Single submitter ⚠
- p.Arg83Pro Single submitter ⚠
- p.Asn150Ser Single submitter Inborn genetic diseases ⚠
- p.Asn270Ser Single submitter Inborn genetic diseases ⚠
- p.Asn52Ile Single submitter ⚠
- p.Asn52Ser Single submitter ⚠
- p.Asn7Asp Single submitter DPF2-related disorder ⚠
- p.Asp139Val Single submitter ⚠
- p.Asp141Asn Single submitter Inborn genetic diseases ⚠
- p.Asp161Ala Single submitter ⚠
- p.Asp171Asn Single submitter Inborn genetic diseases ⚠
- p.Asp206His Single submitter ⚠
- p.Asp206Val Single submitter ⚠
- p.Asp240Tyr Single submitter ⚠
- p.Asp243= Single submitter
- p.Asp274Ala Single submitter Inborn genetic diseases ⚠
- p.Asp279Asn Single submitter Inborn genetic diseases ⚠
- p.Asp339= Single submitter
- p.Asp349His Single submitter Coffin-Siris syndrome 7 ⚠
- p.Asp349Tyr Single submitter Coffin-Siris syndrome 7 ⚠
- p.Cys295Ser Single submitter ⚠
- p.Cys32_Ala33insTer Single submitter
- p.Gln114Arg Single submitter ⚠
- p.Gln23Leu Single submitter ⚠
- p.Gln245Glu Single submitter Coffin-Siris syndrome 7 ⚠
- p.Gln288His Single submitter Inborn genetic diseases ⚠
- p.Glu145Lys Single submitter Coffin-Siris syndrome ⚠
- p.Glu170Gln Single submitter Coffin-Siris syndrome 7 ⚠
- p.Glu237Asp Single submitter ⚠
- p.Glu237Gln Single submitter ⚠
- p.Glu237Lys Single submitter ⚠
- p.Glu255Gln Single submitter ⚠
- p.Glu380Asp Single submitter Inborn genetic diseases ⚠
- p.Gly238Ser Single submitter Inborn genetic diseases ⚠
- p.Gly262Val Single submitter Inborn genetic diseases ⚠
- p.Gly334Ser Single submitter ⚠
- p.Gly47Arg Single submitter Inborn genetic diseases ⚠
- p.His353Arg Single submitter Inborn genetic diseases ⚠
- p.Ile201Leu Single submitter Inborn genetic diseases ⚠
- p.Ile325Val Single submitter ⚠
- p.Leu122Val Single submitter Coffin-Siris syndrome 7 ⚠
- p.Leu167Phe Single submitter ⚠
- p.Leu66Phe Single submitter ⚠
- p.Lys130Arg Single submitter Inborn genetic diseases ⚠
- p.Lys186= Single submitter
- p.Lys216Arg Single submitter ⚠
- p.Lys281fs Single submitter
- p.Phe95Val Single submitter ⚠
- p.Pro134Ser Single submitter Inborn genetic diseases ⚠
- p.Pro147Leu Single submitter Inborn genetic diseases ⚠
- p.Pro249Ala Single submitter ⚠
- p.Pro269Ser Single submitter Inborn genetic diseases ⚠
- p.Pro311Ala Single submitter ⚠
- p.Pro359fs Single submitter Coffin-Siris syndrome 7
- p.Pro359Leu Single submitter ⚠
- p.Pro364His Single submitter Coffin-Siris syndrome 7 ⚠
- p.Pro96Thr Single submitter Inborn genetic diseases ⚠
- p.Ser118_Leu119insTer Single submitter
- p.Ser151Gly Single submitter ⚠
- p.Ser231Phe Single submitter ⚠
- p.Ser254Thr Single submitter ⚠
- p.Ser68Tyr Single submitter Coffin-Siris syndrome 7 ⚠
- p.Thr102Ile Single submitter ⚠
- p.Thr105Asn Single submitter ⚠
- p.Thr125Ile Single submitter ⚠
- p.Thr248Asn Single submitter ⚠
- p.Thr248Ile Single submitter ⚠
- p.Thr286Met Single submitter ⚠
- p.Tyr172_Glu173insTyr Single submitter Inborn genetic diseases
- p.Tyr172Cys Single submitter ⚠
- p.Tyr17Asp Single submitter Inborn genetic diseases ⚠
- p.Val4Ala Single submitter ⚠
- p.Glu120Gly No assertion criteria DPF2-related disorder ⚠
- p.Gly13Arg No assertion criteria DPF2-related disorder ⚠