CFAP418 — 259 ClinVar variants
All ClinVar germline CFAP418 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →
15 Pathogenic · 4 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 18 Conflicting · 6 Benign · 11 Benign/Likely benign · 63 Likely benign · 136 Uncertain significance
Full CFAP418 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 99
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 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CFAP418 p.Ala178Val
Uncertain significance
Multiple submitters
CFAP418-related disorder
-
CFAP418 p.Ala45Gly
Uncertain significance
Multiple submitters
CFAP418-related disorder
-
CFAP418 p.Ala45Thr
Uncertain significance
Multiple submitters
CFAP418-related disorder
-
CFAP418 p.Arg186Gly
Uncertain significance
Multiple submitters
bardet-biedl syndrome 21
-
CFAP418 p.Arg201Pro
Uncertain significance
Multiple submitters
bardet-biedl syndrome 21
-
CFAP418 p.Cys132Arg
Uncertain significance
Multiple submitters
cone-rod dystrophy 16
-
CFAP418 p.Cys132Tyr
Uncertain significance
Multiple submitters
cone-rod dystrophy 16
-
CFAP418 p.Glu13Lys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CFAP418 p.Glu28Lys
Uncertain significance
Multiple submitters
bardet-biedl syndrome 21
-
CFAP418 p.Gly111Arg
Uncertain significance
Multiple submitters
bardet-biedl syndrome 21
-
CFAP418 p.Leu22Pro
Uncertain significance
Multiple submitters
bardet-biedl syndrome 21
-
CFAP418 p.Lys15Glu
Uncertain significance
Multiple submitters
cone-rod dystrophy 16
- CFAP418 p.Ala134Thr Uncertain significance Single submitter
- CFAP418 p.Ala47Pro Uncertain significance Single submitter
- CFAP418 p.Ala95Asp Uncertain significance Single submitter
- CFAP418 p.Arg157Gly Uncertain significance Single submitter
- CFAP418 p.Arg177Pro Uncertain significance Single submitter
- CFAP418 p.Arg24Gln Uncertain significance Single submitter
- CFAP418 p.Asn121Thr Uncertain significance Single submitter
- CFAP418 p.Asn43Lys Uncertain significance Single submitter
- CFAP418 p.Asp136Asn Uncertain significance Single submitter
-
CFAP418 p.Asp20Asn
Uncertain significance
Single submitter
inherited retinal dystrophy
- CFAP418 p.Cys104Gly Uncertain significance Single submitter
- CFAP418 p.Cys104Ser Uncertain significance Single submitter
- CFAP418 p.Cys132Ser Uncertain significance Single submitter
-
CFAP418 p.Gln44Glu
Uncertain significance
Single submitter
bardet-biedl syndrome 21
- CFAP418 p.Glu13Asp Uncertain significance Single submitter
- CFAP418 p.Glu49Gln Uncertain significance Single submitter
- CFAP418 p.Glu7Ala Uncertain significance Single submitter
- CFAP418 p.Glu98Asp Uncertain significance Single submitter
- CFAP418 p.Gly117Arg Uncertain significance Single submitter
- CFAP418 p.Gly25Asp Uncertain significance Single submitter
- CFAP418 p.Gly36Ser Uncertain significance Single submitter
- CFAP418 p.His164Gln Uncertain significance Single submitter
- CFAP418 p.His198Arg Uncertain significance Single submitter
-
CFAP418 p.Ile97Thr
Uncertain significance
Single submitter
inherited retinal dystrophy
- CFAP418 p.Leu100Arg Uncertain significance Single submitter
-
CFAP418 p.Leu200Ile
Uncertain significance
Single submitter
cone-rod dystrophy 16
- CFAP418 p.Leu51Phe Uncertain significance Single submitter
- CFAP418 p.Leu9Ser Uncertain significance Single submitter
- CFAP418 p.Lys15Arg Uncertain significance Single submitter
- CFAP418 p.Lys58Gln Uncertain significance Single submitter
- CFAP418 p.Lys84Thr Uncertain significance Single submitter
- CFAP418 p.Met146Ile Uncertain significance Single submitter
- CFAP418 p.Phe57Leu Uncertain significance Single submitter
- CFAP418 p.Pro19Ser Uncertain significance Single submitter
- CFAP418 p.Pro30Ala Uncertain significance Single submitter
- CFAP418 p.Pro74Thr Uncertain significance Single submitter
- CFAP418 p.Ser40Arg Uncertain significance Single submitter
- CFAP418 p.Ser40Gly Uncertain significance Single submitter
- CFAP418 p.Ser40Thr Uncertain significance Single submitter
- CFAP418 p.Ser81Ala Uncertain significance Single submitter
-
CFAP418 p.Ser85Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CFAP418 p.Thr50Pro Uncertain significance Single submitter
- CFAP418 p.Trp147Ser Uncertain significance Single submitter
-
CFAP418 p.Asn158Lys
Uncertain significance
No assertion criteria
inherited retinal dystrophy
-
CFAP418 p.Asp20Ala
Uncertain significance
No assertion criteria
inherited retinal dystrophy
-
CFAP418 p.Gly101Asp
Uncertain significance
No assertion criteria
CFAP418-related disorder
-
CFAP418 p.Gly101Ser
Uncertain significance
No assertion criteria
CFAP418-related disorder
-
CFAP418 p.His207Arg
Uncertain significance
No assertion criteria
CFAP418-related disorder
-
CFAP418 p.Leu130Pro
Uncertain significance
No assertion criteria
CFAP418-related disorder
-
CFAP418 p.Lys78Glu
Uncertain significance
No assertion criteria
CFAP418-related disorder
-
CFAP418 p.Ser112Arg
Uncertain significance
No assertion criteria
CFAP418-related disorder
Predictors split 34
The independent predictors disagree with each other — read with care.
- CFAP418 p.Arg131His Likely benign Multiple submitters
-
CFAP418 p.Arg177Gln
Uncertain significance
Multiple submitters
bardet-biedl syndrome 21
- CFAP418 p.Asp6Gly Uncertain significance Multiple submitters
-
CFAP418 p.Leu71Phe
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
CFAP418 p.Pro106Leu
Uncertain significance
Multiple submitters
cone-rod dystrophy 16
-
CFAP418 p.Pro19Ala
Benign/Likely benign
Multiple submitters
inherited retinal dystrophy
-
CFAP418 p.Ser141Asn
Uncertain significance
Multiple submitters
bardet-biedl syndrome 21
-
CFAP418 p.Ser150Trp
Uncertain significance
Multiple submitters
bardet-biedl syndrome 21
-
CFAP418 p.Ser65Ile
Uncertain significance
Multiple submitters
cone-rod dystrophy 16
-
CFAP418 p.Ser85Phe
Uncertain significance
Multiple submitters
bardet-biedl syndrome 21
- CFAP418 p.Ala126Thr Uncertain significance Single submitter
- CFAP418 p.Arg131Cys Uncertain significance Single submitter
- CFAP418 p.Arg201Cys Uncertain significance Single submitter
- CFAP418 p.Arg201His Uncertain significance Single submitter
- CFAP418 p.Asp10Asn Uncertain significance Single submitter
- CFAP418 p.Asp64Asn Uncertain significance Single submitter
- CFAP418 p.Asp6Asn Uncertain significance Single submitter
- CFAP418 p.Cys17Tyr Uncertain significance Single submitter
- CFAP418 p.Glu13Gln Uncertain significance Single submitter
- CFAP418 p.Glu60Gly Uncertain significance Single submitter
- CFAP418 p.Gly36Cys Uncertain significance Single submitter
- CFAP418 p.Ile188Thr Uncertain significance Single submitter
- CFAP418 p.Ile70Met Uncertain significance Single submitter
- CFAP418 p.Leu154Met Uncertain significance Single submitter
- CFAP418 p.Lys102Glu Uncertain significance Single submitter
- CFAP418 p.Lys173Thr Uncertain significance Single submitter
-
CFAP418 p.Lys174Arg
Conflicting
Single submitter
cone-rod dystrophy 16
- CFAP418 p.Met146Leu Likely benign Single submitter
- CFAP418 p.Ser150Leu Uncertain significance Single submitter
- CFAP418 p.Thr50Met Uncertain significance Single submitter
- CFAP418 p.Tyr108His Uncertain significance Single submitter
-
CFAP418 p.Asp143Gly
Uncertain significance
No assertion criteria
CFAP418-related disorder
-
CFAP418 p.Asp148His
Uncertain significance
No assertion criteria
CFAP418-related disorder
-
CFAP418 p.Asp4Val
Uncertain significance
No assertion criteria
CFAP418-related disorder
All CFAP418 variants
Pathogenic 15
- p.Arg42fs Single submitter cone-rod dystrophy 16
- p.Asn121fs Single submitter cone-rod dystrophy 16
- p.Asp62_Leu63insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyXaaXaaXaaXaaLysLysLysLysLysLysLysLysGluAspAsp Single submitter
- p.Asp6fs Single submitter
- p.Glu162fs Single submitter
- p.Glu7Ter Single submitter
- p.Gly117fs Single submitter
- p.Gly35fs Single submitter
- p.Leu100fs Single submitter
- p.Pro30fs Single submitter
- p.Trp147Ter Single submitter cone-rod dystrophy 16
- c.156-2A>G No assertion criteria cone-rod dystrophy 16
- p.Gln182Arg No assertion criteria retinitis pigmentosa 64
- p.Leu166Ter No assertion criteria retinitis pigmentosa 64
- p.Lys102Ter No assertion criteria bardet-biedl syndrome 21
Pathogenic/Likely pathogenic 4
- p.Arg177Trp Multiple submitters inherited retinal dystrophy
- p.Glu60fs Multiple submitters cone-rod dystrophy 16
- p.Trp185Ter Multiple submitters retinitis pigmentosa 64
- c.244-2A>C No assertion criteria retinitis pigmentosa 64
Likely pathogenic 6
- c.243+1G>A Single submitter cone-rod dystrophy 16
- c.374+1G>A Single submitter inherited retinal dystrophy
- p.Ala180fs Single submitter cone-rod dystrophy 16
- p.Gln44Ter Single submitter bardet-biedl syndrome 21
- p.Ser81fs Single submitter bardet-biedl syndrome 21
- p.Lys58fs No assertion criteria CFAP418-related disorder
Conflicting classifications of pathogenicity 18
- c.155+12G>A Single submitter cone-rod dystrophy 16
- c.155+8G>A Single submitter retinitis pigmentosa
- c.374+1G>C Single submitter CFAP418-related disorder
- c.*2166T>G Single submitter retinitis pigmentosa
- c.*2212C>T Single submitter retinitis pigmentosa
- c.*2330C>T Single submitter cone-rod dystrophy 16
- c.*536A>C Single submitter cone-rod dystrophy 16
- c.*791G>T Single submitter cone-rod dystrophy 16
- p.Arg42= Single submitter cone-rod dystrophy 16
- p.Asn90Ser Single submitter cone-rod dystrophy 16 ⚠
- p.Ile171Arg Single submitter ⚠
- p.Leu138= Single submitter bardet-biedl syndrome 21
- p.Leu166= Single submitter cone-rod dystrophy 16
- p.Lys174Arg Single submitter cone-rod dystrophy 16 ⚠
- p.Pro106= Single submitter inherited retinal dystrophy
- p.Ser150= Single submitter inherited retinal dystrophy
- p.Thr176= Single submitter cone-rod dystrophy 16
- p.Trp202Ter Single submitter
Benign 6
- c.244-31A>G Multiple submitters
- c.*1458A>C Multiple submitters cone-rod dystrophy 16
- c.*2163T>C Multiple submitters cone-rod dystrophy 16
- c.*2525T>C Multiple submitters cone-rod dystrophy 16
- c.471-71_471-70dup Single submitter
- c.471-71dup Single submitter
Benign/Likely benign 11
- c.155+20T>G Multiple submitters bardet-biedl syndrome 21
- c.156-11C>T Multiple submitters cone-rod dystrophy 16
- c.243+20T>C Multiple submitters cone-rod dystrophy 16
- c.*1604C>G Multiple submitters retinitis pigmentosa
- c.*1667T>C Multiple submitters cone-rod dystrophy 16
- c.*1949C>G Multiple submitters cone-rod dystrophy 16
- p.Pro19Ala Multiple submitters inherited retinal dystrophy ⚠
- c.*1811A>G Single submitter cone-rod dystrophy 16
- c.*2094C>T Single submitter cone-rod dystrophy 16
- c.*2419T>A Single submitter cone-rod dystrophy 16
- c.*644C>G Single submitter cone-rod dystrophy 16
Likely benign 63
- c.375-16T>A Multiple submitters bardet-biedl syndrome 21
- p.Arg131His Multiple submitters ⚠
- p.Ile188= Multiple submitters inherited retinal dystrophy
- c.155+10G>A Single submitter
- c.155+7C>T Single submitter
- c.155+9G>C Single submitter
- c.156-17G>A Single submitter
- c.156-20T>C Single submitter
- c.243+10G>A Single submitter
- c.243+11T>C Single submitter
- c.243+12G>A Single submitter
- c.243+14T>A Single submitter
- c.243+15A>G Single submitter
- c.244-10T>C Single submitter
- c.244-17T>C Single submitter
- c.244-20T>C Single submitter
- c.308+12T>A Single submitter
- c.308+13T>C Single submitter
- c.308+14G>A Single submitter
- c.308+19G>T Single submitter
- c.308+7T>G Single submitter
- c.374+18T>C Single submitter
- c.374+8G>T Single submitter
- c.375-10del Single submitter
- c.375-20A>G Single submitter
- c.375-5A>T Single submitter
- c.470+16A>G Single submitter
- c.471-11T>C Single submitter
- c.471-13G>A Single submitter
- c.471-15C>G Single submitter
- c.471-20C>T Single submitter
- c.471-57del Single submitter
- p.Ala178= Single submitter
- p.Asp152= Single submitter
- p.Gln182= Single submitter
- p.Glu3= Single submitter
- p.Glu49= Single submitter
- p.Gly32= Single submitter
- p.Gly35= Single submitter
- p.Ile67= Single submitter
- p.Leu21= Single submitter
- p.Leu76= Single submitter
- p.Leu8= Single submitter
- p.Lys165= Single submitter
- p.Lys58= Single submitter
- p.Met146Leu Single submitter ⚠
- p.Phe16= Single submitter
- p.Pro115= Single submitter
- p.Pro80= Single submitter
- p.Ser123= Single submitter
- p.Thr50= Single submitter
- p.Val191= Single submitter
- c.155+5A>T No assertion criteria CFAP418-related disorder
- c.308+6T>C No assertion criteria CFAP418-related disorder
- c.309-7C>T No assertion criteria CFAP418-related disorder
- c.375-10dup No assertion criteria CFAP418-related disorder
- p.Ala2= No assertion criteria CFAP418-related disorder
- p.Cys204= No assertion criteria CFAP418-related disorder
- p.Ile70= No assertion criteria CFAP418-related disorder
- p.Lys46= No assertion criteria CFAP418-related disorder
- p.Pro161= No assertion criteria CFAP418-related disorder
- p.Ser40= No assertion criteria CFAP418-related disorder
- p.Ser65= No assertion criteria CFAP418-related disorder
Uncertain significance 136
- c.*408G>A Multiple submitters cone-rod dystrophy 16
- c.*965C>G Multiple submitters cone-rod dystrophy 16
- p.Ala178Val Multiple submitters CFAP418-related disorder ⚠
- p.Ala45Gly Multiple submitters CFAP418-related disorder ⚠
- p.Ala45Thr Multiple submitters CFAP418-related disorder ⚠
- p.Arg177Gln Multiple submitters bardet-biedl syndrome 21 ⚠
- p.Arg186Gly Multiple submitters bardet-biedl syndrome 21 ⚠
- p.Arg201Pro Multiple submitters bardet-biedl syndrome 21 ⚠
- p.Asp6Gly Multiple submitters ⚠
- p.Cys132Arg Multiple submitters cone-rod dystrophy 16 ⚠
- p.Cys132Tyr Multiple submitters cone-rod dystrophy 16 ⚠
- p.Glu13Lys Multiple submitters inherited retinal dystrophy ⚠
- p.Glu28Lys Multiple submitters bardet-biedl syndrome 21 ⚠
- p.Gly111Arg Multiple submitters bardet-biedl syndrome 21 ⚠
- p.Leu22Pro Multiple submitters bardet-biedl syndrome 21 ⚠
- p.Leu71Phe Multiple submitters inherited retinal dystrophy ⚠
- p.Lys15Glu Multiple submitters cone-rod dystrophy 16 ⚠
- p.Pro106Leu Multiple submitters cone-rod dystrophy 16 ⚠
- p.Ser141Asn Multiple submitters bardet-biedl syndrome 21 ⚠
- p.Ser150Trp Multiple submitters bardet-biedl syndrome 21 ⚠
- p.Ser65Ile Multiple submitters cone-rod dystrophy 16 ⚠
- p.Ser85Phe Multiple submitters bardet-biedl syndrome 21 ⚠
- c.156-3C>A Single submitter cone-rod dystrophy 16
- c.308+4A>G Single submitter
- c.470+3A>G Single submitter
- c.471-4A>G Single submitter
- c.-5T>C Single submitter cone-rod dystrophy 16
- c.*1057C>T Single submitter cone-rod dystrophy 16
- c.*1115G>C Single submitter cone-rod dystrophy 16
- c.*1151A>G Single submitter cone-rod dystrophy 16
- c.*1474G>A Single submitter cone-rod dystrophy 16
- c.*155G>T Single submitter cone-rod dystrophy 16
- c.*1607T>C Single submitter retinitis pigmentosa
- c.*1623_*1624dup Single submitter
- c.*1628A>T Single submitter cone-rod dystrophy 16
- c.*1629T>G Single submitter cone-rod dystrophy 16
- c.*1675G>T Single submitter cone-rod dystrophy 16
- c.*1687T>A Single submitter cone-rod dystrophy 16
- c.*1870T>A Single submitter cone-rod dystrophy 16
- c.*1904G>A Single submitter cone-rod dystrophy 16
- c.*2009C>T Single submitter cone-rod dystrophy 16
- c.*2017C>G Single submitter cone-rod dystrophy 16
- c.*2102G>A Single submitter cone-rod dystrophy 16
- c.*2129A>G Single submitter cone-rod dystrophy 16
- c.*2212C>G Single submitter retinitis pigmentosa
- c.*2492C>T Single submitter cone-rod dystrophy 16
- c.*2498A>G Single submitter cone-rod dystrophy 16
- c.*249T>C Single submitter cone-rod dystrophy 16
- c.*2549C>A Single submitter cone-rod dystrophy 16
- c.*2617G>T Single submitter retinitis pigmentosa
- c.*336G>A Single submitter retinitis pigmentosa
- c.*383C>T Single submitter cone-rod dystrophy 16
- c.*406A>T Single submitter cone-rod dystrophy 16
- c.*863C>T Single submitter cone-rod dystrophy 16
- c.*944A>C Single submitter cone-rod dystrophy 16
- p.Ala126Thr Single submitter ⚠
- p.Ala134Thr Single submitter ⚠
- p.Ala47Pro Single submitter ⚠
- p.Ala95Asp Single submitter ⚠
- p.Arg131Cys Single submitter ⚠
- p.Arg157= Single submitter inherited retinal dystrophy
- p.Arg157Gly Single submitter ⚠
- p.Arg177Pro Single submitter ⚠
- p.Arg201Cys Single submitter ⚠
- p.Arg201His Single submitter ⚠
- p.Arg24Gln Single submitter ⚠
- p.Asn121Thr Single submitter ⚠
- p.Asn43Lys Single submitter ⚠
- p.Asp10Asn Single submitter ⚠
- p.Asp136Asn Single submitter ⚠
- p.Asp20Asn Single submitter inherited retinal dystrophy ⚠
- p.Asp64Asn Single submitter ⚠
- p.Asp6Asn Single submitter ⚠
- p.Cys104Gly Single submitter ⚠
- p.Cys104Ser Single submitter ⚠
- p.Cys132Ser Single submitter ⚠
- p.Cys17Tyr Single submitter ⚠
- p.Gln44Glu Single submitter bardet-biedl syndrome 21 ⚠
- p.Glu13Asp Single submitter ⚠
- p.Glu13Gln Single submitter ⚠
- p.Glu49Gln Single submitter ⚠
- p.Glu60Gly Single submitter ⚠
- p.Glu7Ala Single submitter ⚠
- p.Glu98Asp Single submitter ⚠
- p.Gly117Arg Single submitter ⚠
- p.Gly25Asp Single submitter ⚠
- p.Gly36Cys Single submitter ⚠
- p.Gly36Ser Single submitter ⚠
- p.His164Gln Single submitter ⚠
- p.His198Arg Single submitter ⚠
- p.Ile188Thr Single submitter ⚠
- p.Ile70Met Single submitter ⚠
- p.Ile97Thr Single submitter inherited retinal dystrophy ⚠
- p.Leu100Arg Single submitter ⚠
- p.Leu154Met Single submitter ⚠
- p.Leu200Ile Single submitter cone-rod dystrophy 16 ⚠
- p.Leu5= Single submitter retinitis pigmentosa
- p.Leu51Phe Single submitter ⚠
- p.Leu9Ser Single submitter ⚠
- p.Lys102Glu Single submitter ⚠
- p.Lys15Arg Single submitter ⚠
- p.Lys173Thr Single submitter ⚠
- p.Lys58Gln Single submitter ⚠
- p.Lys84Thr Single submitter ⚠
- p.Met146Ile Single submitter ⚠
- p.Met1Ile Single submitter retinitis pigmentosa
- p.Phe57Leu Single submitter ⚠
- p.Pro19Ser Single submitter ⚠
- p.Pro30Ala Single submitter ⚠
- p.Pro74Thr Single submitter ⚠
- p.Ser150Leu Single submitter ⚠
- p.Ser40Arg Single submitter ⚠
- p.Ser40Gly Single submitter ⚠
- p.Ser40Thr Single submitter ⚠
- p.Ser81= Single submitter
- p.Ser81Ala Single submitter ⚠
- p.Ser85Pro Single submitter Inborn genetic diseases ⚠
- p.Thr50Met Single submitter ⚠
- p.Thr50Pro Single submitter ⚠
- p.Trp147Ser Single submitter ⚠
- p.Tyr108His Single submitter ⚠
- p.Tyr145_Asp148del Single submitter inherited retinal dystrophy
- p.Val139= Single submitter inherited retinal dystrophy
- c.243+3A>C No assertion criteria CFAP418-related disorder
- c.375-7T>G No assertion criteria CFAP418-related disorder
- p.Asn158Lys No assertion criteria inherited retinal dystrophy ⚠
- p.Asp143Gly No assertion criteria CFAP418-related disorder ⚠
- p.Asp148His No assertion criteria CFAP418-related disorder ⚠
- p.Asp20Ala No assertion criteria inherited retinal dystrophy ⚠
- p.Asp4Val No assertion criteria CFAP418-related disorder ⚠
- p.Gly101Asp No assertion criteria CFAP418-related disorder ⚠
- p.Gly101Ser No assertion criteria CFAP418-related disorder ⚠
- p.His207Arg No assertion criteria CFAP418-related disorder ⚠
- p.Leu130Pro No assertion criteria CFAP418-related disorder ⚠
- p.Lys78Glu No assertion criteria CFAP418-related disorder ⚠
- p.Ser112Arg No assertion criteria CFAP418-related disorder ⚠