BDNF — 140 ClinVar variants
All ClinVar germline BDNF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
2 Likely pathogenic · 1 Conflicting · 16 Benign · 47 Likely benign · 74 Uncertain significance
Full BDNF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 lean, ClinVar uncertain 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
BDNF p.Ala24Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BDNF p.Ala51Val
Uncertain significance
Single submitter
Inborn genetic diseases
- BDNF p.Arg128Cys Uncertain significance Single submitter
- BDNF p.Arg134Cys Uncertain significance Single submitter
-
BDNF p.Arg38Gln
Uncertain significance
Single submitter
BDNF-related disorder
-
BDNF p.Arg78Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
BDNF p.Asp74Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BDNF p.Glu111Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
BDNF p.Gly31Asp
Uncertain significance
Single submitter
BDNF-related disorder
-
BDNF p.Gly55Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BDNF p.Gly55Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
BDNF p.His203Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- BDNF p.Ile231Val Uncertain significance Single submitter
-
BDNF p.Ile243Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
BDNF p.Leu43Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- BDNF p.Lys17Glu Uncertain significance Single submitter
-
BDNF p.Lys76Glu
Uncertain significance
Single submitter
BDNF-related disorder
-
BDNF p.Met124Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BDNF p.Met220Thr
Uncertain significance
Single submitter
BDNF-related disorder
- BDNF p.Phe108Tyr Uncertain significance Single submitter
-
BDNF p.Phe181Cys
Uncertain significance
Single submitter
inherited obesity
-
BDNF p.Ser139Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- BDNF p.Ser58Pro Uncertain significance Single submitter
-
BDNF p.Ser98Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- BDNF p.Thr2Asn Uncertain significance Single submitter
-
BDNF p.Thr57Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
BDNF p.Thr62Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- BDNF p.Val215Met Uncertain significance Single submitter
-
BDNF p.Ala156Thr
Uncertain significance
No assertion criteria
BDNF-related disorder
-
BDNF p.Asn80Ser
Uncertain significance
No assertion criteria
BDNF-related disorder
-
BDNF p.Cys239Gly
Uncertain significance
No assertion criteria
BDNF-related disorder
-
BDNF p.Glu183Lys
Uncertain significance
No assertion criteria
BDNF-related disorder
-
BDNF p.Glu64Lys
Uncertain significance
No assertion criteria
BDNF-related disorder
-
BDNF p.Gly52Ser
Uncertain significance
No assertion criteria
BDNF-related disorder
-
BDNF p.Lys76Gln
Uncertain significance
No assertion criteria
BDNF-related disorder
-
BDNF p.Ser213Leu
Uncertain significance
No assertion criteria
BDNF-related disorder
-
BDNF p.Thr91Lys
Uncertain significance
No assertion criteria
BDNF-related disorder
-
BDNF p.Val140Met
Uncertain significance
No assertion criteria
BDNF-related disorder
-
BDNF p.Val170Ile
Uncertain significance
No assertion criteria
BDNF-related disorder
-
BDNF p.Val94Met
Uncertain significance
No assertion criteria
BDNF-related disorder
Predictors split 8
The independent predictors disagree with each other — read with care.
-
BDNF p.Val46Met
Uncertain significance
Multiple submitters
BDNF-related disorder
- BDNF p.Met122Ile Uncertain significance Single submitter
-
BDNF p.Thr2Ile
Conflicting
Single submitter
obesity disorder
-
BDNF p.Tyr34Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
BDNF p.Met122Thr
Uncertain significance
No assertion criteria
BDNF-related disorder
-
BDNF p.Pro188Arg
Uncertain significance
No assertion criteria
BDNF-related disorder
-
BDNF p.Thr155Ser
Uncertain significance
No assertion criteria
BDNF-related disorder
-
BDNF p.Thr163Met
Uncertain significance
No assertion criteria
BDNF-related disorder
All BDNF variants
Likely pathogenic 2
- p.Cys186Tyr Single submitter obesity disorder
- p.Glu168Ter Single submitter Inborn genetic diseases
Benign 16
- c.-21-1044G>C Multiple submitters
- c.-21-1065G>A Multiple submitters
- c.-21-15778G>T Multiple submitters
- c.-22+774G>A Multiple submitters
- p.Ala150= Multiple submitters
- p.Ala150= Multiple submitters
- p.Val66Met Multiple submitters
- c.-21-1064CA[11] Single submitter
- c.-21-1064CA[13] Single submitter
- c.-21-1256G>A Single submitter
- c.-21-15304= Single submitter
- c.-21-15332T>C Single submitter
- p.Ser213= Single submitter
- p.Tyr182= Single submitter
- c.-21-15633G>A No assertion criteria obesity disorder
- c.-21-15653T>C No assertion criteria
Likely benign 47
- p.Asp86= Multiple submitters Inborn genetic diseases
- p.Thr149= Multiple submitters Inborn genetic diseases
- c.-21-15601_-21-15600del Single submitter
- p.Asn25= Single submitter
- p.Gln75Glu Single submitter Inborn genetic diseases
- p.Gly161= Single submitter
- p.His203= Single submitter
- p.Leu107= Single submitter Inborn genetic diseases
- p.Ser139= Single submitter
- p.Thr91= Single submitter
- p.Tyr214= Single submitter
- c.3+20367A>G No assertion criteria BDNF-related disorder
- c.3+20368T>C No assertion criteria BDNF-related disorder
- c.66+8T>C No assertion criteria BDNF-related disorder
- c.-21-15523C>T No assertion criteria BDNF-related disorder
- c.-21-15529C>T No assertion criteria BDNF-related disorder
- c.-21-15541C>A No assertion criteria BDNF-related disorder
- c.-21-15556A>G No assertion criteria BDNF-related disorder
- c.-21-15571A>G No assertion criteria BDNF-related disorder
- c.-21-15592C>T No assertion criteria BDNF-related disorder
- c.-21-15601A>G No assertion criteria BDNF-related disorder
- c.-21-15610G>A No assertion criteria BDNF-related disorder
- c.-21-15625A>G No assertion criteria BDNF-related disorder
- c.-21-15634T>C No assertion criteria BDNF-related disorder
- c.-21-15688C>T No assertion criteria BDNF-related disorder
- c.-22+764G>A No assertion criteria BDNF-related disorder
- c.*4A>G No assertion criteria BDNF-related disorder
- c.*9T>C No assertion criteria BDNF-related disorder
- p.Ala120= No assertion criteria BDNF-related disorder
- p.Arg245= No assertion criteria BDNF-related disorder
- p.Arg27= No assertion criteria BDNF-related disorder
- p.Arg38= No assertion criteria BDNF-related disorder
- p.Gln179= No assertion criteria BDNF-related disorder
- p.His65= No assertion criteria BDNF-related disorder
- p.Leu241= No assertion criteria BDNF-related disorder
- p.Lys13= No assertion criteria BDNF-related disorder
- p.Lys13Asn No assertion criteria BDNF-related disorder
- p.Lys178= No assertion criteria BDNF-related disorder
- p.Phe5= No assertion criteria BDNF-related disorder
- p.Ser45= No assertion criteria BDNF-related disorder
- p.Thr155= No assertion criteria BDNF-related disorder
- p.Thr163= No assertion criteria BDNF-related disorder
- p.Thr165= No assertion criteria BDNF-related disorder
- p.Thr210= No assertion criteria BDNF-related disorder
- p.Thr211= No assertion criteria BDNF-related disorder
- p.Tyr34= No assertion criteria BDNF-related disorder
- p.Val37= No assertion criteria BDNF-related disorder
Uncertain significance 74
- p.Val46Met Multiple submitters BDNF-related disorder ⚠
- c.-21-15487T>G Single submitter BDNF-related disorder
- c.-21-15496C>G Single submitter BDNF-related disorder
- c.-21-15685_-21-15684del Single submitter
- c.-22+764G>C Single submitter
- p.Ala24= Single submitter
- p.Ala24Thr Single submitter Inborn genetic diseases ⚠
- p.Ala51Val Single submitter Inborn genetic diseases ⚠
- p.Arg128Cys Single submitter ⚠
- p.Arg134Cys Single submitter ⚠
- p.Arg38Gln Single submitter BDNF-related disorder ⚠
- p.Arg78Gln Single submitter Inborn genetic diseases ⚠
- p.Asp74Ala Single submitter Inborn genetic diseases ⚠
- p.Glu103= Single submitter
- p.Glu111Gln Single submitter Inborn genetic diseases ⚠
- p.Glu81Ter Single submitter
- p.Gly31Asp Single submitter BDNF-related disorder ⚠
- p.Gly55Ser Single submitter Inborn genetic diseases ⚠
- p.Gly55Val Single submitter Inborn genetic diseases ⚠
- p.His203Gln Single submitter Inborn genetic diseases ⚠
- p.Ile10_Ser11insTer Single submitter
- p.Ile231Val Single submitter ⚠
- p.Ile243Phe Single submitter Inborn genetic diseases ⚠
- p.Leu43Pro Single submitter Inborn genetic diseases ⚠
- p.Lys17Glu Single submitter ⚠
- p.Lys76Glu Single submitter BDNF-related disorder ⚠
- p.Met122Ile Single submitter ⚠
- p.Met124Leu Single submitter Inborn genetic diseases ⚠
- p.Met220Thr Single submitter BDNF-related disorder ⚠
- p.Phe108Tyr Single submitter ⚠
- p.Phe181Cys Single submitter inherited obesity ⚠
- p.Ser139Arg Single submitter Inborn genetic diseases ⚠
- p.Ser160= Single submitter
- p.Ser58Pro Single submitter ⚠
- p.Ser98Asn Single submitter Inborn genetic diseases ⚠
- p.Thr2Asn Single submitter ⚠
- p.Thr57Lys Single submitter Inborn genetic diseases ⚠
- p.Thr62Ala Single submitter Inborn genetic diseases ⚠
- p.Trp204fs Single submitter
- p.Tyr34Cys Single submitter Inborn genetic diseases ⚠
- p.Val215Met Single submitter ⚠
- c.-21-15481C>A No assertion criteria BDNF-related disorder
- c.-21-15533T>C No assertion criteria BDNF-related disorder
- c.-21-15591G>A No assertion criteria BDNF-related disorder
- c.-21-15602C>T No assertion criteria BDNF-related disorder
- c.-21-15623A>C No assertion criteria BDNF-related disorder
- c.-21-15635C>T No assertion criteria BDNF-related disorder
- c.-21-15659_-21-15656dup No assertion criteria BDNF-related disorder
- c.-22+2T>G No assertion criteria BDNF-related disorder
- c.-22+777G>T No assertion criteria BDNF-related disorder
- c.-46C>T No assertion criteria Variant of unknown significance
- p.Ala156Thr No assertion criteria BDNF-related disorder ⚠
- p.Ala17Thr No assertion criteria BDNF-related disorder
- p.Arg10Cys No assertion criteria BDNF-related disorder
- p.Arg10Ser No assertion criteria BDNF-related disorder
- p.Asn80Ser No assertion criteria BDNF-related disorder ⚠
- p.Cys239Gly No assertion criteria BDNF-related disorder ⚠
- p.Glu183Lys No assertion criteria BDNF-related disorder ⚠
- p.Glu64Lys No assertion criteria BDNF-related disorder ⚠
- p.Gly18Glu No assertion criteria BDNF-related disorder
- p.Gly21= No assertion criteria BDNF-related disorder
- p.Gly52Ser No assertion criteria BDNF-related disorder ⚠
- p.Lys76Gln No assertion criteria BDNF-related disorder ⚠
- p.Met122Thr No assertion criteria BDNF-related disorder ⚠
- p.Met1Thr No assertion criteria BDNF-related disorder
- p.Pro188Arg No assertion criteria BDNF-related disorder ⚠
- p.Ser213Leu No assertion criteria BDNF-related disorder ⚠
- p.Thr155Ser No assertion criteria BDNF-related disorder ⚠
- p.Thr163Met No assertion criteria BDNF-related disorder ⚠
- p.Thr91Lys No assertion criteria BDNF-related disorder ⚠
- p.Tyr12Ter No assertion criteria BDNF-related disorder
- p.Val140Met No assertion criteria BDNF-related disorder ⚠
- p.Val170Ile No assertion criteria BDNF-related disorder ⚠
- p.Val94Met No assertion criteria BDNF-related disorder ⚠