DNAAF4 — 300 ClinVar variants
All ClinVar germline DNAAF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →
21 Pathogenic · 7 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 5 Conflicting · 44 Benign · 1 Benign/Likely benign · 90 Likely benign · 125 Uncertain significance
Full DNAAF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 121
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DNAAF4 p.Gln4Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAAF4 p.Glu222Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAAF4 p.Glu60Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAAF4 p.His264Arg
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 25
-
DNAAF4 p.Ile277Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAAF4 p.Leu209Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAAF4 p.Lys174Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAAF4 p.Met82Ile
Uncertain significance
Multiple submitters
dyslexia, susceptibility to, 1
-
DNAAF4 p.Phe247Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAAF4 p.Pro2Ser
Uncertain significance
Multiple submitters
primary ciliary dyskinesia
-
DNAAF4 p.Ser254Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAAF4 p.Ser62Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DNAAF4 p.Tyr389His Uncertain significance Multiple submitters
-
DNAAF4 p.Val383Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAAF4 p.Ala114Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Ala129Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Ala169Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Ala231Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Ala272Thr Uncertain significance Single submitter
- DNAAF4 p.Ala375Glu Uncertain significance Single submitter
- DNAAF4 p.Arg207Gly Uncertain significance Single submitter
-
DNAAF4 p.Arg29Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Arg371Gly Uncertain significance Single submitter
- DNAAF4 p.Asn208Ile Uncertain significance Single submitter
-
DNAAF4 p.Asn329Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Asp295Glu Uncertain significance Single submitter
-
DNAAF4 p.Asp405His
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Cys35Arg Uncertain significance Single submitter
- DNAAF4 p.Gln172Lys Uncertain significance Single submitter
-
DNAAF4 p.His264Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Ile144Met Uncertain significance Single submitter
-
DNAAF4 p.Ile195Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Ile219Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Ile395Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Ile57Val Uncertain significance Single submitter
- DNAAF4 p.Leu200Val Uncertain significance Single submitter
- DNAAF4 p.Leu381Phe Uncertain significance Single submitter
- DNAAF4 p.Lys14Thr Uncertain significance Single submitter
-
DNAAF4 p.Lys157Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Lys212Arg Uncertain significance Single submitter
- DNAAF4 p.Lys212Glu Uncertain significance Single submitter
- DNAAF4 p.Lys77Glu Uncertain significance Single submitter
- DNAAF4 p.Thr156Ser Uncertain significance Single submitter
-
DNAAF4 p.Thr249Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Thr416Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Tyr128Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Val358Ala Uncertain significance Single submitter
-
DNAAF4 p.Val402Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Val402Ile Uncertain significance Single submitter
Predictors split 71
The independent predictors disagree with each other — read with care.
-
DNAAF4 p.Ala391Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAAF4 p.Arg152Trp
Uncertain significance
Multiple submitters
dyslexia, susceptibility to, 1
-
DNAAF4 p.Arg233His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAAF4 p.Arg245Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAAF4 p.Arg410Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAAF4 p.Arg410Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DNAAF4 p.Asn43Ser Benign Multiple submitters
-
DNAAF4 p.Gln414Pro
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 25
-
DNAAF4 p.Glu191Gly
Benign
Multiple submitters
primary ciliary dyskinesia 25
-
DNAAF4 p.Glu286Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAAF4 p.Ile66Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAAF4 p.Met134Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DNAAF4 p.Thr374Ile Uncertain significance Multiple submitters
-
DNAAF4 p.Val72Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DNAAF4 p.Val91Ile Benign Multiple submitters
- DNAAF4 p.Ala107Val Uncertain significance Single submitter
-
DNAAF4 p.Ala117Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Ala267Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Ala406Pro Uncertain significance Single submitter
- DNAAF4 p.Ala51Ser Uncertain significance Single submitter
-
DNAAF4 p.Arg100Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Arg123Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Arg152Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Arg233Cys Uncertain significance Single submitter
- DNAAF4 p.Arg252Pro Uncertain significance Single submitter
-
DNAAF4 p.Arg270Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Arg330Gln Uncertain significance Single submitter
- DNAAF4 p.Arg365Lys Uncertain significance Single submitter
- DNAAF4 p.Arg98Ile Uncertain significance Single submitter
-
DNAAF4 p.Asn339Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Asn399Ser Uncertain significance Single submitter
- DNAAF4 p.Asp295Gly Uncertain significance Single submitter
-
DNAAF4 p.Gln172Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Glu101Gly Uncertain significance Single submitter
- DNAAF4 p.Glu116Asp Uncertain significance Single submitter
- DNAAF4 p.Glu124Asp Uncertain significance Single submitter
- DNAAF4 p.Glu164Gly Uncertain significance Single submitter
- DNAAF4 p.Glu185Gly Uncertain significance Single submitter
-
DNAAF4 p.Glu191Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Glu260Gly Uncertain significance Single submitter
-
DNAAF4 p.Glu407Asp
Uncertain significance
Single submitter
DNAAF4-related disorder
-
DNAAF4 p.Glu79Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Gly90Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Ile104Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Ile310Val Uncertain significance Single submitter
-
DNAAF4 p.Leu130Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Leu19Val Uncertain significance Single submitter
-
DNAAF4 p.Leu283Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Leu393Phe Uncertain significance Single submitter
-
DNAAF4 p.Leu40Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Leu86Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Lys239Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Lys288Glu
Conflicting
Single submitter
DNAAF4-related disorder
-
DNAAF4 p.Lys294Met
Conflicting
Single submitter
Inborn genetic diseases
- DNAAF4 p.Lys299Arg Uncertain significance Single submitter
- DNAAF4 p.Lys400Arg Uncertain significance Single submitter
- DNAAF4 p.Lys400Asn Uncertain significance Single submitter
-
DNAAF4 p.Phe34Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Pro22Ser Uncertain significance Single submitter
- DNAAF4 p.Pro232Ser Uncertain significance Single submitter
- DNAAF4 p.Pro2Leu Uncertain significance Single submitter
- DNAAF4 p.Pro2Thr Uncertain significance Single submitter
- DNAAF4 p.Pro397Leu Uncertain significance Single submitter
-
DNAAF4 p.Pro45Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Pro56Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Pro56Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Ser20Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 25
-
DNAAF4 p.Thr303Met
Conflicting
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Tyr306Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAAF4 p.Tyr8Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DNAAF4 p.Val91Phe Uncertain significance Single submitter
All DNAAF4 variants
Pathogenic 21
- c.1153+1G>A Multiple submitters dyslexia, susceptibility to, 1
- c.784-1037_894-2012del Multiple submitters primary ciliary dyskinesia
- p.Glu109Ter Multiple submitters primary ciliary dyskinesia 25
- p.Lys194_Ile195insTer Multiple submitters dyslexia, susceptibility to, 1
- p.Tyr197fs Multiple submitters primary ciliary dyskinesia 25
- c.1048-149_*1048del Single submitter primary ciliary dyskinesia
- c.406-1G>A Single submitter
- c.406-1G>C Single submitter
- c.784-?_893+?del Single submitter primary ciliary dyskinesia
- p.Ala119fs Single submitter
- p.Ala312fs Single submitter
- p.Ala64fs Single submitter
- p.Gln166fs Single submitter
- p.Gln183Ter Single submitter
- p.Ile144fs Single submitter
- p.Ile188fs Single submitter
- p.Ile195_Lys196insTer Single submitter
- p.Lys288fs Single submitter
- p.Pro56fs Single submitter
- p.Ser348delinsPhePhePhePhePhePhePheXaaXaaXaaXaaCysAsnLeuCysLeuProGlyTer Single submitter
- p.Trp262fs Single submitter primary ciliary dyskinesia 25
Pathogenic/Likely pathogenic 7
- p.Arg245Ter Multiple submitters
- p.Arg270Ter Multiple submitters primary ciliary dyskinesia 25
- p.Arg330Trp Multiple submitters primary ciliary dyskinesia 25
- p.Arg371Ter Multiple submitters dyslexia, susceptibility to, 1
- p.Gln4Ter Multiple submitters DNAAF4-related disorder
- p.Ile175Asnfs Multiple submitters DNAAF4-related disorder
- p.Ser131_Val132insTer Multiple submitters primary ciliary dyskinesia
Likely pathogenic 7
- c.124-6_135del Single submitter
- c.405+1G>A Single submitter
- c.638-1G>A Single submitter
- p.Cys27Ter Single submitter primary ciliary dyskinesia 25
- p.Lys127_Tyr128insTer Single submitter dyslexia, susceptibility to, 1
- p.Met1Ile Single submitter dyslexia, susceptibility to, 1
- p.Pro56_Ile57insTer Single submitter primary ciliary dyskinesia 25
Conflicting classifications of pathogenicity 5
- p.Gly373Glu Single submitter ⚠
- p.Ile195fs Single submitter dyslexia, susceptibility to, 1
- p.Lys288Glu Single submitter DNAAF4-related disorder ⚠
- p.Lys294Met Single submitter Inborn genetic diseases ⚠
- p.Thr303Met Single submitter Inborn genetic diseases ⚠
Benign 44
- c.1047+30C>T Multiple submitters
- c.1047+87A>C Multiple submitters
- c.1048-53G>A Multiple submitters
- c.1154-174C>G Multiple submitters
- c.123+107T>C Multiple submitters
- c.123+122A>G Multiple submitters
- c.123+53T>C Multiple submitters
- c.272-15T>C Multiple submitters
- c.405+127A>T Multiple submitters
- c.405+148T>C Multiple submitters
- c.405+151G>T Multiple submitters
- c.893+110C>T Multiple submitters
- c.-129A>C Multiple submitters
- c.-129A>T Multiple submitters
- c.-13C>T Multiple submitters
- c.-164C>T Multiple submitters
- c.-255-53T>C Multiple submitters
- c.-3G>A Multiple submitters dyslexia, susceptibility to, 1
- p.Asn43Ser Multiple submitters ⚠
- p.Glu191Gly Multiple submitters primary ciliary dyskinesia 25 ⚠
- p.Glu417Ter Multiple submitters primary ciliary dyskinesia 25
- p.Ser420Cys Multiple submitters
- p.Val91Ile Multiple submitters ⚠
- c.1048-190dup Single submitter
- c.1048-297C>T Single submitter
- c.271+116del Single submitter
- c.272-318del Single submitter
- c.406-124A>G Single submitter
- c.406-329C>T Single submitter
- c.637+251del Single submitter
- c.637+270G>A Single submitter
- c.638-161T>C Single submitter
- c.638-16A>C Single submitter
- c.783+269C>G Single submitter
- c.784-172T>C Single submitter
- c.894-231del Single submitter
- c.-255-10del Single submitter
- c.-255-12_-255-10del Single submitter
- c.-255-29_-255-26dup Single submitter
- c.-255-29_-255-27dup Single submitter
- c.-255-29_-255-28dup Single submitter
- c.-255-328del Single submitter
- c.-255-329_-255-328del Single submitter
- c.-255-340dup Single submitter
Benign/Likely benign 1
- c.1154-12A>G Multiple submitters
Likely benign 90
- c.1047+13A>G Multiple submitters
- c.123+24C>G Multiple submitters
- c.123+70G>A Multiple submitters
- c.-2G>A Multiple submitters
- p.Ala392= Multiple submitters Inborn genetic diseases
- p.Leu337= Multiple submitters
- c.1047+135dup Single submitter
- c.1047+17_1047+18dup Single submitter
- c.1047+7A>C Single submitter
- c.1047+7A>T Single submitter
- c.1048-12A>G Single submitter
- c.1048-14A>G Single submitter
- c.1048-18T>C Single submitter
- c.1153+18A>G Single submitter
- c.1153+242A>G Single submitter
- c.1154-12A>T Single submitter
- c.123+15C>G Single submitter
- c.123+4A>G Single submitter
- c.124-13C>A Single submitter
- c.271+12A>G Single submitter
- c.271+18A>G Single submitter
- c.271+20_271+21del Single submitter
- c.272-15T>G Single submitter
- c.272-309G>A Single submitter
- c.272-66G>A Single submitter
- c.272-6T>A Single submitter
- c.272-7A>G Single submitter
- c.272-8C>T Single submitter
- c.405+10A>C Single submitter
- c.405+12A>G Single submitter
- c.405+17C>A Single submitter
- c.405+20G>C Single submitter
- c.637+11T>G Single submitter
- c.638-19G>T Single submitter
- c.638-9T>C Single submitter
- c.784-18A>T Single submitter
- c.784-4C>G Single submitter
- c.893+14_893+20del Single submitter
- c.893+19G>T Single submitter
- c.893+278C>T Single submitter
- c.894-10G>A Single submitter
- c.894-12T>G Single submitter
- c.894-4T>C Single submitter
- c.894-8C>T Single submitter
- c.-255-114C>T Single submitter
- c.-255-19_-255-10dup Single submitter
- c.-255-207del Single submitter
- c.-255-28_-255-10dup Single submitter
- c.-255-29_-255-19dup Single submitter
- p.Ala119= Single submitter
- p.Ala129= Single submitter
- p.Ala158= Single submitter
- p.Ala16= Single submitter
- p.Ala257= Single submitter
- p.Ala312= Single submitter
- p.Ala316= Single submitter
- p.Ala331= Single submitter
- p.Ala391= Single submitter
- p.Ala81= Single submitter
- p.Arg330= Single submitter
- p.Arg410= Single submitter Inborn genetic diseases
- p.Asn361= Single submitter
- p.Asp146= Single submitter
- p.Asp58= Single submitter
- p.Glu139= Single submitter
- p.Glu170= Single submitter
- p.Glu260= Single submitter
- p.Ile310= Single submitter
- p.Leu130= Single submitter
- p.Leu159= Single submitter
- p.Leu386= Single submitter
- p.Leu40= Single submitter
- p.Leu48= Single submitter
- p.Lys299= Single submitter
- p.Lys342= Single submitter
- p.Phe220= Single submitter
- p.Phe44= Single submitter
- p.Pro22= Single submitter
- p.Pro356= Single submitter
- p.Thr115= Single submitter
- p.Thr243= Single submitter
- p.Thr275= Single submitter
- p.Thr303= Single submitter
- p.Thr416= Single submitter
- p.Thr85= Single submitter
- p.Tyr165= Single submitter
- p.Val17= Single submitter
- p.Val26= Single submitter
- p.Val72= Single submitter
- c.783+5A>G No assertion criteria DNAAF4-related disorder
Uncertain significance 125
- c.893+5G>A Multiple submitters
- p.Ala391Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg152Trp Multiple submitters dyslexia, susceptibility to, 1 ⚠
- p.Arg233His Multiple submitters Inborn genetic diseases ⚠
- p.Arg245Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg410Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg410Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gln414Pro Multiple submitters primary ciliary dyskinesia 25 ⚠
- p.Gln4Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu222Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu286Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu60Asp Multiple submitters Inborn genetic diseases ⚠
- p.His264Arg Multiple submitters primary ciliary dyskinesia 25 ⚠
- p.Ile277Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile66Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu209Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys174Asn Multiple submitters Inborn genetic diseases ⚠
- p.Met134Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met82Ile Multiple submitters dyslexia, susceptibility to, 1 ⚠
- p.Phe247Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro2Ser Multiple submitters primary ciliary dyskinesia ⚠
- p.Ser254Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser62Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr374Ile Multiple submitters ⚠
- p.Tyr389His Multiple submitters ⚠
- p.Val383Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val72Gly Multiple submitters Inborn genetic diseases ⚠
- c.1048-9T>C Single submitter
- c.271+5G>A Single submitter
- c.406-3T>C Single submitter
- c.894-3T>G Single submitter
- p.Ala107Val Single submitter ⚠
- p.Ala114Thr Single submitter Inborn genetic diseases ⚠
- p.Ala117Thr Single submitter Inborn genetic diseases ⚠
- p.Ala129Ser Single submitter Inborn genetic diseases ⚠
- p.Ala169Val Single submitter Inborn genetic diseases ⚠
- p.Ala231Pro Single submitter Inborn genetic diseases ⚠
- p.Ala267Gly Single submitter Inborn genetic diseases ⚠
- p.Ala272Thr Single submitter ⚠
- p.Ala375Glu Single submitter ⚠
- p.Ala406Pro Single submitter ⚠
- p.Ala51Ser Single submitter ⚠
- p.Arg100Thr Single submitter Inborn genetic diseases ⚠
- p.Arg123Gln Single submitter Inborn genetic diseases ⚠
- p.Arg152Gln Single submitter Inborn genetic diseases ⚠
- p.Arg207Gly Single submitter ⚠
- p.Arg233Cys Single submitter ⚠
- p.Arg252Pro Single submitter ⚠
- p.Arg270Gln Single submitter Inborn genetic diseases ⚠
- p.Arg29Lys Single submitter Inborn genetic diseases ⚠
- p.Arg330Gln Single submitter ⚠
- p.Arg365Lys Single submitter ⚠
- p.Arg371Gly Single submitter ⚠
- p.Arg98Ile Single submitter ⚠
- p.Asn208Ile Single submitter ⚠
- p.Asn329Ile Single submitter Inborn genetic diseases ⚠
- p.Asn339Ser Single submitter Inborn genetic diseases ⚠
- p.Asn399Ser Single submitter ⚠
- p.Asp295Glu Single submitter ⚠
- p.Asp295Gly Single submitter ⚠
- p.Asp405His Single submitter Inborn genetic diseases ⚠
- p.Cys35Arg Single submitter ⚠
- p.Gln106= Single submitter
- p.Gln172Lys Single submitter ⚠
- p.Gln172Pro Single submitter Inborn genetic diseases ⚠
- p.Glu101Gly Single submitter ⚠
- p.Glu116Asp Single submitter ⚠
- p.Glu124Asp Single submitter ⚠
- p.Glu164Gly Single submitter ⚠
- p.Glu185Gly Single submitter ⚠
- p.Glu191Gln Single submitter Inborn genetic diseases ⚠
- p.Glu260Gly Single submitter ⚠
- p.Glu287del Single submitter
- p.Glu407Asp Single submitter DNAAF4-related disorder ⚠
- p.Glu79Asp Single submitter Inborn genetic diseases ⚠
- p.Gly90Cys Single submitter Inborn genetic diseases ⚠
- p.His264Gln Single submitter Inborn genetic diseases ⚠
- p.His375Gln Single submitter
- p.Ile104Thr Single submitter Inborn genetic diseases ⚠
- p.Ile144Met Single submitter ⚠
- p.Ile195Val Single submitter Inborn genetic diseases ⚠
- p.Ile219Arg Single submitter Inborn genetic diseases ⚠
- p.Ile310Val Single submitter ⚠
- p.Ile395Ser Single submitter Inborn genetic diseases ⚠
- p.Ile57Val Single submitter ⚠
- p.Leu130Ile Single submitter Inborn genetic diseases ⚠
- p.Leu19Val Single submitter ⚠
- p.Leu200Val Single submitter ⚠
- p.Leu283Phe Single submitter Inborn genetic diseases ⚠
- p.Leu381Phe Single submitter ⚠
- p.Leu393Phe Single submitter ⚠
- p.Leu40Met Single submitter Inborn genetic diseases ⚠
- p.Leu86Val Single submitter Inborn genetic diseases ⚠
- p.Lys14Thr Single submitter ⚠
- p.Lys157Glu Single submitter Inborn genetic diseases ⚠
- p.Lys212Arg Single submitter ⚠
- p.Lys212Glu Single submitter ⚠
- p.Lys239Asn Single submitter Inborn genetic diseases ⚠
- p.Lys299Arg Single submitter ⚠
- p.Lys400Arg Single submitter ⚠
- p.Lys400Asn Single submitter ⚠
- p.Lys41= Single submitter primary ciliary dyskinesia
- p.Lys77Glu Single submitter ⚠
- p.Phe34Val Single submitter Inborn genetic diseases ⚠
- p.Pro22Ser Single submitter ⚠
- p.Pro232Ser Single submitter ⚠
- p.Pro2Leu Single submitter ⚠
- p.Pro2Thr Single submitter ⚠
- p.Pro364Ser Single submitter
- p.Pro397Leu Single submitter ⚠
- p.Pro45Arg Single submitter Inborn genetic diseases ⚠
- p.Pro56Arg Single submitter Inborn genetic diseases ⚠
- p.Pro56Leu Single submitter Inborn genetic diseases ⚠
- p.Ser20Cys Single submitter primary ciliary dyskinesia 25 ⚠
- p.Thr156Ser Single submitter ⚠
- p.Thr249Ser Single submitter Inborn genetic diseases ⚠
- p.Thr416Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr128Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr306Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr8Cys Single submitter Inborn genetic diseases ⚠
- p.Val358Ala Single submitter ⚠
- p.Val402Ala Single submitter Inborn genetic diseases ⚠
- p.Val402Ile Single submitter ⚠
- p.Val91Phe Single submitter ⚠
- c.1153+2_1153+5del No assertion criteria DNAAF4-related disorder