KIFBP — 241 ClinVar variants
All ClinVar germline KIFBP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 123 flagged for review →
9 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 9 Conflicting · 19 Benign · 7 Benign/Likely benign · 44 Likely benign · 146 Uncertain significance
Full KIFBP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 123
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 96
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KIFBP p.Ala243Gly Uncertain significance Multiple submitters
- KIFBP p.Ala490Thr Uncertain significance Multiple submitters
-
KIFBP p.Ala590Thr
Uncertain significance
Multiple submitters
Goldberg-Shprintzen syndrome
- KIFBP p.Arg237His Uncertain significance Multiple submitters
- KIFBP p.Arg359Gln Uncertain significance Multiple submitters
-
KIFBP p.Arg442Thr
Uncertain significance
Multiple submitters
Goldberg-Shprintzen syndrome
- KIFBP p.Arg443Gln Uncertain significance Multiple submitters
- KIFBP p.Asp337Asn Uncertain significance Multiple submitters
- KIFBP p.Asp483Glu Uncertain significance Multiple submitters
- KIFBP p.Cys10Phe Uncertain significance Multiple submitters
-
KIFBP p.Glu240Lys
Uncertain significance
Multiple submitters
Goldberg-Shprintzen syndrome
-
KIFBP p.Glu301Lys
Uncertain significance
Multiple submitters
Goldberg-Shprintzen syndrome
- KIFBP p.Gly368Ser Uncertain significance Multiple submitters
- KIFBP p.His245Tyr Uncertain significance Multiple submitters
-
KIFBP p.Ile261Val
Uncertain significance
Multiple submitters
Goldberg-Shprintzen syndrome
- KIFBP p.Leu181Phe Uncertain significance Multiple submitters
- KIFBP p.Met223Ile Uncertain significance Multiple submitters
-
KIFBP p.Pro562Leu
Uncertain significance
Multiple submitters
epilepsy
- KIFBP p.Thr184Ala Uncertain significance Multiple submitters
-
KIFBP p.Val539Ile
Uncertain significance
Multiple submitters
Goldberg-Shprintzen syndrome
- KIFBP p.Ala15Val Uncertain significance Single submitter
- KIFBP p.Ala227Thr Uncertain significance Single submitter
- KIFBP p.Ala295Thr Uncertain significance Single submitter
- KIFBP p.Ala325Thr Uncertain significance Single submitter
- KIFBP p.Ala373Thr Uncertain significance Single submitter
- KIFBP p.Ala376Thr Uncertain significance Single submitter
- KIFBP p.Ala428Ser Uncertain significance Single submitter
- KIFBP p.Ala513Ser Uncertain significance Single submitter
- KIFBP p.Ala619Thr Uncertain significance Single submitter
- KIFBP p.Ala7Ser Uncertain significance Single submitter
-
KIFBP p.Arg123Gln
Uncertain significance
Single submitter
Goldberg-Shprintzen syndrome
- KIFBP p.Arg345Lys Uncertain significance Single submitter
- KIFBP p.Arg359Trp Uncertain significance Single submitter
- KIFBP p.Arg443Trp Uncertain significance Single submitter
- KIFBP p.Arg449Cys Uncertain significance Single submitter
- KIFBP p.Arg552Cys Uncertain significance Single submitter
- KIFBP p.Arg613Gly Uncertain significance Single submitter
- KIFBP p.Asn252Lys Uncertain significance Single submitter
- KIFBP p.Asn332Lys Uncertain significance Single submitter
- KIFBP p.Asn470Ser Uncertain significance Single submitter
- KIFBP p.Asn507Ser Uncertain significance Single submitter
- KIFBP p.Asn508Lys Uncertain significance Single submitter
- KIFBP p.Asn528Asp Uncertain significance Single submitter
- KIFBP p.Asp331Asn Uncertain significance Single submitter
- KIFBP p.Asp337Gly Uncertain significance Single submitter
- KIFBP p.Asp388Gly Uncertain significance Single submitter
- KIFBP p.Gln140Arg Uncertain significance Single submitter
- KIFBP p.Gln216Pro Uncertain significance Single submitter
- KIFBP p.Gln591Arg Uncertain significance Single submitter
-
KIFBP p.Glu309Lys
Uncertain significance
Single submitter
Goldberg-Shprintzen syndrome
- KIFBP p.Glu379Gly Uncertain significance Single submitter
- KIFBP p.Glu533Ala Uncertain significance Single submitter
- KIFBP p.Glu574Gln Uncertain significance Single submitter
- KIFBP p.Glu59Lys Uncertain significance Single submitter
- KIFBP p.Glu84Gly Uncertain significance Single submitter
- KIFBP p.Gly102Arg Uncertain significance Single submitter
- KIFBP p.Gly66Cys Uncertain significance Single submitter
- KIFBP p.Gly70Ala Uncertain significance Single submitter
- KIFBP p.His132Gln Uncertain significance Single submitter
- KIFBP p.Ile106Thr Uncertain significance Single submitter
- KIFBP p.Ile251Val Uncertain significance Single submitter
- KIFBP p.Ile535Thr Uncertain significance Single submitter
- KIFBP p.Leu124Arg Uncertain significance Single submitter
- KIFBP p.Leu188Ile Uncertain significance Single submitter
- KIFBP p.Leu321Val Uncertain significance Single submitter
- KIFBP p.Leu495Arg Uncertain significance Single submitter
- KIFBP p.Leu524Pro Uncertain significance Single submitter
- KIFBP p.Lys205Arg Uncertain significance Single submitter
- KIFBP p.Lys307Arg Uncertain significance Single submitter
- KIFBP p.Lys360Glu Uncertain significance Single submitter
- KIFBP p.Lys407Asn Uncertain significance Single submitter
- KIFBP p.Lys511Arg Uncertain significance Single submitter
- KIFBP p.Met173Val Uncertain significance Single submitter
- KIFBP p.Met223Leu Uncertain significance Single submitter
-
KIFBP p.Met329Val
Uncertain significance
Single submitter
Goldberg-Shprintzen syndrome
- KIFBP p.Pro61Arg Uncertain significance Single submitter
- KIFBP p.Pro77Arg Uncertain significance Single submitter
- KIFBP p.Ser136Thr Uncertain significance Single submitter
-
KIFBP p.Ser427Gly
Uncertain significance
Single submitter
Goldberg-Shprintzen syndrome
- KIFBP p.Ser605Asn Uncertain significance Single submitter
- KIFBP p.Ser605Gly Uncertain significance Single submitter
-
KIFBP p.Thr108Ala
Uncertain significance
Single submitter
Goldberg-Shprintzen syndrome
- KIFBP p.Thr195Ser Uncertain significance Single submitter
- KIFBP p.Thr320Ile Uncertain significance Single submitter
- KIFBP p.Thr367Pro Uncertain significance Single submitter
-
KIFBP p.Thr417Pro
Uncertain significance
Single submitter
epilepsy
-
KIFBP p.Thr458Ile
Uncertain significance
Single submitter
Goldberg-Shprintzen syndrome
- KIFBP p.Tyr260Asn Uncertain significance Single submitter
- KIFBP p.Val377Ile Uncertain significance Single submitter
- KIFBP p.Val423Ile Uncertain significance Single submitter
- KIFBP p.Val432Leu Uncertain significance Single submitter
- KIFBP p.Val489Phe Uncertain significance Single submitter
- KIFBP p.Val503Leu Uncertain significance Single submitter
- KIFBP p.Val550Ile Uncertain significance Single submitter
- KIFBP p.Ile473Met Uncertain significance No assertion criteria
-
KIFBP p.Pro189Ser
Uncertain significance
No assertion criteria
Goldberg-Shprintzen syndrome
Predictors split 25
The independent predictors disagree with each other — read with care.
- KIFBP p.Met322Thr Uncertain significance Multiple submitters
- KIFBP p.Tyr402Cys Uncertain significance Multiple submitters
- KIFBP p.Ala16Val Uncertain significance Single submitter
- KIFBP p.Ala392Val Uncertain significance Single submitter
- KIFBP p.Arg129Gly Uncertain significance Single submitter
- KIFBP p.Arg199Ile Uncertain significance Single submitter
- KIFBP p.Arg552Leu Uncertain significance Single submitter
- KIFBP p.Asp418Asn Uncertain significance Single submitter
- KIFBP p.Gln219Arg Uncertain significance Single submitter
- KIFBP p.Glu185Lys Uncertain significance Single submitter
- KIFBP p.Glu335Gly Uncertain significance Single submitter
- KIFBP p.Glu45Lys Uncertain significance Single submitter
-
KIFBP p.Gly366Glu
Uncertain significance
Single submitter
Goldberg-Shprintzen syndrome
- KIFBP p.Ile106Asn Uncertain significance Single submitter
- KIFBP p.Ile147Val Uncertain significance Single submitter
- KIFBP p.Ile420Thr Uncertain significance Single submitter
-
KIFBP p.Leu101Phe
Uncertain significance
Single submitter
Goldberg-Shprintzen syndrome
- KIFBP p.Leu387Ser Uncertain significance Single submitter
- KIFBP p.Leu509Phe Uncertain significance Single submitter
-
KIFBP p.Lys556Gln
Uncertain significance
Single submitter
Goldberg-Shprintzen syndrome
- KIFBP p.Met267Ile Uncertain significance Single submitter
- KIFBP p.Met322Arg Uncertain significance Single submitter
- KIFBP p.Pro52Leu Uncertain significance Single submitter
- KIFBP p.Thr108Ser Uncertain significance Single submitter
- KIFBP p.Val381Met Uncertain significance Single submitter
All KIFBP variants
Pathogenic 9
- p.Ser200Ter Multiple submitters KIF1BP-related disorders
- p.Ala452fs Single submitter Goldberg-Shprintzen syndrome
- p.Gln326Ter Single submitter Goldberg-Shprintzen syndrome
- p.Glu394fs Single submitter Goldberg-Shprintzen syndrome
- p.Glu45fs Single submitter Goldberg-Shprintzen syndrome
- p.Ser512Ter Single submitter Goldberg-Shprintzen syndrome
- p.Arg202fs No assertion criteria Goldberg-Shprintzen syndrome
- p.Arg90Ter No assertion criteria Goldberg-Shprintzen syndrome
- p.Glu84Ter No assertion criteria Goldberg-Shprintzen syndrome
Pathogenic/Likely pathogenic 2
- p.Ala362fs Multiple submitters Goldberg-Shprintzen syndrome
- p.Ile506fs Multiple submitters KIFBP-related disorder
Likely pathogenic 5
- c.605+1G>A Single submitter
- p.Glu57Ter Single submitter Goldberg-Shprintzen syndrome
- p.Lys36fs Single submitter Goldberg-Shprintzen syndrome
- p.Val206fs Single submitter Goldberg-Shprintzen syndrome
- p.His575fs No assertion criteria Goldberg-Shprintzen syndrome
Conflicting classifications of pathogenicity 9
- p.Arg186Cys Single submitter ⚠
- p.Arg186His Single submitter ⚠
- p.Arg442= Single submitter Goldberg-Shprintzen syndrome
- p.Arg549Ter Single submitter Goldberg-Shprintzen syndrome
- p.Leu321= Single submitter Goldberg-Shprintzen syndrome
- p.Leu467= Single submitter Goldberg-Shprintzen syndrome
- p.Lys263= Single submitter Goldberg-Shprintzen syndrome
- p.Thr616= Single submitter Goldberg-Shprintzen syndrome
- p.Val22= Single submitter Goldberg-Shprintzen syndrome
Benign 19
- p.Ala551= Multiple submitters Goldberg-Shprintzen syndrome
- p.Gln341= Multiple submitters Goldberg-Shprintzen syndrome
- p.Gly66Ser Multiple submitters Goldberg-Shprintzen syndrome
- c.427-268C>T Single submitter
- c.525+88G>A Single submitter
- c.526-264T>C Single submitter
- c.605+211G>T Single submitter
- c.606-132C>T Single submitter
- c.606-238G>A Single submitter
- c.606-45dup Single submitter
- c.874+123T>G Single submitter
- c.990+252TAAA[6] Single submitter
- c.990+69G>A Single submitter
- c.991-161G>C Single submitter
- c.991-216T>C Single submitter
- c.991-296T>C Single submitter
- c.-417C>T Single submitter
- c.*415C>T Single submitter Goldberg-Shprintzen syndrome
- c.*422A>C Single submitter Goldberg-Shprintzen syndrome
Benign/Likely benign 7
- c.990+11C>T Multiple submitters Goldberg-Shprintzen syndrome
- p.Glu23Gly Multiple submitters Goldberg-Shprintzen syndrome
- p.Gly68Arg Multiple submitters Goldberg-Shprintzen syndrome
- p.Lys205= Multiple submitters
- p.Met173Thr Multiple submitters Goldberg-Shprintzen syndrome
- p.Pro463= Multiple submitters
- p.Pro587= Multiple submitters Goldberg-Shprintzen syndrome
Likely benign 44
- p.Gly368= Multiple submitters
- p.Leu514= Multiple submitters
- c.427-13C>T Single submitter
- c.427-213G>A Single submitter
- c.526-11_526-9del Single submitter
- c.526-16T>C Single submitter
- c.526-249G>A Single submitter
- c.606-14T>C Single submitter
- c.606-8C>A Single submitter
- c.789+265G>A Single submitter
- c.789+40G>A Single submitter
- c.789+7T>C Single submitter
- c.790-16T>A Single submitter
- c.874+10C>T Single submitter
- c.875-13A>G Single submitter
- c.875-15A>G Single submitter
- c.991-10T>A Single submitter
- c.991-13T>C Single submitter
- c.991-161G>A Single submitter
- c.991-8dup Single submitter
- c.-20G>A Single submitter
- c.-40G>A Single submitter
- p.Ala18= Single submitter
- p.Ala18Thr Single submitter
- p.Arg123= Single submitter
- p.Arg123Trp Single submitter
- p.Arg129= Single submitter
- p.Cys231= Single submitter
- p.Gln364= Single submitter
- p.Glu196= Single submitter
- p.Leu264= Single submitter
- p.Leu273= Single submitter
- p.Leu352= Single submitter
- p.Leu370= Single submitter
- p.Lys285= Single submitter
- p.Lys515= Single submitter
- p.Phe259= Single submitter
- p.Pro456= Single submitter
- p.Pro542= Single submitter
- p.Pro77= Single submitter
- p.Pro86= Single submitter
- p.Thr367= Single submitter
- p.Val92= Single submitter
- p.Val9Ile Single submitter
Uncertain significance 146
- p.Ala243Gly Multiple submitters ⚠
- p.Ala39Gly Multiple submitters Goldberg-Shprintzen syndrome
- p.Ala490Thr Multiple submitters ⚠
- p.Ala590Thr Multiple submitters Goldberg-Shprintzen syndrome ⚠
- p.Arg237His Multiple submitters ⚠
- p.Arg359Gln Multiple submitters ⚠
- p.Arg442Thr Multiple submitters Goldberg-Shprintzen syndrome ⚠
- p.Arg443Gln Multiple submitters ⚠
- p.Arg541His Multiple submitters
- p.Asp337Asn Multiple submitters ⚠
- p.Asp483Glu Multiple submitters ⚠
- p.Cys10Phe Multiple submitters ⚠
- p.Glu240Lys Multiple submitters Goldberg-Shprintzen syndrome ⚠
- p.Glu301Lys Multiple submitters Goldberg-Shprintzen syndrome ⚠
- p.Gly368Ser Multiple submitters ⚠
- p.His245Tyr Multiple submitters ⚠
- p.Ile261Val Multiple submitters Goldberg-Shprintzen syndrome ⚠
- p.Leu181Phe Multiple submitters ⚠
- p.Met223Ile Multiple submitters ⚠
- p.Met322Thr Multiple submitters ⚠
- p.Pro562Leu Multiple submitters epilepsy ⚠
- p.Thr184Ala Multiple submitters ⚠
- p.Tyr402Cys Multiple submitters ⚠
- p.Val539Ile Multiple submitters Goldberg-Shprintzen syndrome ⚠
- c.605+12T>C Single submitter
- c.875-10T>C Single submitter Goldberg-Shprintzen syndrome
- c.991-3C>T Single submitter
- c.*133G>C Single submitter Goldberg-Shprintzen syndrome
- c.*20G>A Single submitter Goldberg-Shprintzen syndrome
- c.*233C>G Single submitter Goldberg-Shprintzen syndrome
- c.*271T>C Single submitter Goldberg-Shprintzen syndrome
- c.*306A>G Single submitter Goldberg-Shprintzen syndrome
- c.*39T>A Single submitter Goldberg-Shprintzen syndrome
- c.*451T>C Single submitter Goldberg-Shprintzen syndrome
- c.*486G>A Single submitter Goldberg-Shprintzen syndrome
- c.*523C>T Single submitter Goldberg-Shprintzen syndrome
- p.Ala15Val Single submitter ⚠
- p.Ala16Val Single submitter ⚠
- p.Ala227Thr Single submitter ⚠
- p.Ala295Thr Single submitter ⚠
- p.Ala325Thr Single submitter ⚠
- p.Ala373Thr Single submitter ⚠
- p.Ala376Thr Single submitter ⚠
- p.Ala392Val Single submitter ⚠
- p.Ala428Ser Single submitter ⚠
- p.Ala513Ser Single submitter ⚠
- p.Ala619Thr Single submitter ⚠
- p.Ala7Ser Single submitter ⚠
- p.Arg123Gln Single submitter Goldberg-Shprintzen syndrome ⚠
- p.Arg129Gly Single submitter ⚠
- p.Arg199Ile Single submitter ⚠
- p.Arg345Lys Single submitter ⚠
- p.Arg359Trp Single submitter ⚠
- p.Arg443Trp Single submitter ⚠
- p.Arg449Cys Single submitter ⚠
- p.Arg552Cys Single submitter ⚠
- p.Arg552His Single submitter
- p.Arg552Leu Single submitter ⚠
- p.Arg613Gly Single submitter ⚠
- p.Asn252Lys Single submitter ⚠
- p.Asn332Lys Single submitter ⚠
- p.Asn470Ser Single submitter ⚠
- p.Asn507Ser Single submitter ⚠
- p.Asn508Lys Single submitter ⚠
- p.Asn528Asp Single submitter ⚠
- p.Asp331Asn Single submitter ⚠
- p.Asp337Gly Single submitter ⚠
- p.Asp388Gly Single submitter ⚠
- p.Asp418Asn Single submitter ⚠
- p.Asp493del Single submitter
- p.Asp56_Glu62dup Single submitter peripheral neuropathy
- p.Gln140Arg Single submitter ⚠
- p.Gln216Pro Single submitter ⚠
- p.Gln219Arg Single submitter ⚠
- p.Gln591Arg Single submitter ⚠
- p.Glu185Lys Single submitter ⚠
- p.Glu309Lys Single submitter Goldberg-Shprintzen syndrome ⚠
- p.Glu335Gly Single submitter ⚠
- p.Glu356del Single submitter
- p.Glu379Gly Single submitter ⚠
- p.Glu45Lys Single submitter ⚠
- p.Glu533Ala Single submitter ⚠
- p.Glu574Gln Single submitter ⚠
- p.Glu59Lys Single submitter ⚠
- p.Glu84Gly Single submitter ⚠
- p.Gly102Arg Single submitter ⚠
- p.Gly366Glu Single submitter Goldberg-Shprintzen syndrome ⚠
- p.Gly66Cys Single submitter ⚠
- p.Gly70Ala Single submitter ⚠
- p.His132Gln Single submitter ⚠
- p.Ile106= Single submitter Goldberg-Shprintzen syndrome
- p.Ile106Asn Single submitter ⚠
- p.Ile106Thr Single submitter ⚠
- p.Ile147Val Single submitter ⚠
- p.Ile251Val Single submitter ⚠
- p.Ile286= Single submitter Goldberg-Shprintzen syndrome
- p.Ile420Thr Single submitter ⚠
- p.Ile535Thr Single submitter ⚠
- p.Leu101Phe Single submitter Goldberg-Shprintzen syndrome ⚠
- p.Leu124Arg Single submitter ⚠
- p.Leu188Ile Single submitter ⚠
- p.Leu321Val Single submitter ⚠
- p.Leu387Ser Single submitter ⚠
- p.Leu495Arg Single submitter ⚠
- p.Leu509_Asn510del Single submitter
- p.Leu509Phe Single submitter ⚠
- p.Leu524Pro Single submitter ⚠
- p.Lys205Arg Single submitter ⚠
- p.Lys307Arg Single submitter ⚠
- p.Lys360Glu Single submitter ⚠
- p.Lys407Asn Single submitter ⚠
- p.Lys511Arg Single submitter ⚠
- p.Lys556Gln Single submitter Goldberg-Shprintzen syndrome ⚠
- p.Met173Val Single submitter ⚠
- p.Met223Leu Single submitter ⚠
- p.Met267Ile Single submitter ⚠
- p.Met322Arg Single submitter ⚠
- p.Met329Val Single submitter Goldberg-Shprintzen syndrome ⚠
- p.Phe435Val Single submitter
- p.Pro52Leu Single submitter ⚠
- p.Pro61Arg Single submitter ⚠
- p.Pro77Arg Single submitter ⚠
- p.Ser136Thr Single submitter ⚠
- p.Ser427Gly Single submitter Goldberg-Shprintzen syndrome ⚠
- p.Ser605Asn Single submitter ⚠
- p.Ser605Gly Single submitter ⚠
- p.Thr108Ala Single submitter Goldberg-Shprintzen syndrome ⚠
- p.Thr108Ser Single submitter ⚠
- p.Thr195Ser Single submitter ⚠
- p.Thr320Ile Single submitter ⚠
- p.Thr367Pro Single submitter ⚠
- p.Thr417Pro Single submitter epilepsy ⚠
- p.Thr438= Single submitter
- p.Thr458Ile Single submitter Goldberg-Shprintzen syndrome ⚠
- p.Tyr260Asn Single submitter ⚠
- p.Val377Ile Single submitter ⚠
- p.Val381Met Single submitter ⚠
- p.Val423Ile Single submitter ⚠
- p.Val432Leu Single submitter ⚠
- p.Val489Phe Single submitter ⚠
- p.Val503Leu Single submitter ⚠
- p.Val550Ile Single submitter ⚠
- c.905_1020del No assertion criteria Goldberg-Shprintzen syndrome
- p.Glu565fs No assertion criteria Goldberg-Shprintzen syndrome
- p.Ile473Met No assertion criteria ⚠
- p.Pro189Ser No assertion criteria Goldberg-Shprintzen syndrome ⚠