IQCB1 — 611 ClinVar variants
All ClinVar germline IQCB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 237 flagged for review →
46 Pathogenic · 7 Pathogenic/Likely pathogenic · 39 Likely pathogenic · 26 Conflicting · 50 Benign · 11 Benign/Likely benign · 161 Likely benign · 271 Uncertain significance
Full IQCB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 237
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 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
IQCB1 p.Ala427Thr
Conflicting
Single submitter
Inborn genetic diseases
-
IQCB1 p.Arg259Cys
Conflicting
Single submitter
nephronophthisis
-
IQCB1 p.Arg502Gln
Conflicting
Single submitter
Inborn genetic diseases
-
IQCB1 p.Asn517Tyr
Conflicting
Single submitter
nephronophthisis
-
IQCB1 p.Glu481Lys
Conflicting
Single submitter
nephronophthisis
-
IQCB1 p.Leu294Val
Conflicting
Single submitter
nephronophthisis
-
IQCB1 p.Leu30Phe
Conflicting
Single submitter
nephronophthisis
-
IQCB1 p.Leu568Pro
Conflicting
Single submitter
nephronophthisis
-
IQCB1 p.Tyr465His
Conflicting
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Val163Ile
Conflicting
Single submitter
nephronophthisis
Predictors lean, ClinVar uncertain 190
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 190
-
IQCB1 p.Ala427Val
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Ala442Ser
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Ala484Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Arg364Gln
Uncertain significance
Multiple submitters
Senior-Loken syndrome 5
-
IQCB1 p.Arg384Gln
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Arg384Trp
Uncertain significance
Multiple submitters
Senior-Loken syndrome 5
-
IQCB1 p.Arg445Gln
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Arg455Gln
Uncertain significance
Multiple submitters
Senior-Loken syndrome 5
-
IQCB1 p.Arg467Gly
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Arg72Gln
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Arg72Gly
Uncertain significance
Multiple submitters
Senior-Loken syndrome 5
-
IQCB1 p.Asn105Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Asn128Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Asn406Tyr
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Asp347Val
Uncertain significance
Multiple submitters
Senior-Loken syndrome 5
-
IQCB1 p.Asp581His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Cys299Ser
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Cys91Tyr
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Gln161Arg
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Gln193His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Gln23Arg
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Gln272Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Gln276Glu
Uncertain significance
Multiple submitters
Senior-Loken syndrome 5
-
IQCB1 p.Gln357Glu
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Glu137Gly
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Glu22Gln
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Glu365Lys
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Glu385Gln
Uncertain significance
Multiple submitters
Senior-Loken syndrome 5
-
IQCB1 p.Glu457Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Gly496Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Gly496Asp
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Gly532Arg
Uncertain significance
Multiple submitters
Senior-Loken syndrome 5
-
IQCB1 p.His295Arg
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.His375Asn
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.His397Arg
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.His469Arg
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Ile160Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Ile194Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Ile226Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Ile244Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Ile53Val
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Ile576Thr
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Ile80Val
Uncertain significance
Multiple submitters
Senior-Loken syndrome 5
-
IQCB1 p.Leu149Ile
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Leu164Pro
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Leu29Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Leu414Val
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Leu440Pro
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Lys19Glu
Uncertain significance
Multiple submitters
Senior-Loken syndrome 5
-
IQCB1 p.Lys334Gln
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Lys349Arg
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Lys433Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Lys48Glu
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Met335Val
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Met474Val
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Phe494Ile
Uncertain significance
Multiple submitters
Senior-Loken syndrome 5
-
IQCB1 p.Pro40Ser
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Ser209Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Ser526Arg
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Thr231Ile
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Tyr208Cys
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Tyr417Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Val178Ile
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Val518Ile
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Ala100Thr
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Ala111Val
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Ala206Val
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Ala359Ser
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Ala427Gly
Uncertain significance
Single submitter
Senior-Loken syndrome 5
- IQCB1 p.Ala432Thr Uncertain significance Single submitter
-
IQCB1 p.Ala432Val
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Ala498Thr
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Ala530Glu
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Ala552Val
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Arg227Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Arg258Gly
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Arg275Gly
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Arg275Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Arg425Lys
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Arg435His
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Arg454His
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Asn114His
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Asn517Asp
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Asn517Ser
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Asp136His
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Asp212Glu
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Asp212Gly
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Asp212His
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Asp463Asn
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Asp574Asn
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Asp57Tyr
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Asp99Asn
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Gln121Arg
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Gln123His
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Gln165Glu
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Gln179Pro
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Gln264Pro
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Gln287His
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Gln296Arg
Uncertain significance
Single submitter
nephronophthisis
- IQCB1 p.Gln309Arg Uncertain significance Single submitter
-
IQCB1 p.Gln309His
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Gln325His
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Gln367His
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Gln378His
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Gln395Leu
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Gln409Arg
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Gln412Leu
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Gln485Glu
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Gln51His
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Gln561Glu
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Gln74Arg
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Gln82Arg
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Glu102Asp
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Glu133Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Glu213Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Glu22Gly
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Glu22Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Glu243Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Glu291Lys
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Glu372Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Glu500Gly
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Glu500Lys
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Glu588Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Gly154Glu
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Gly471Cys
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Gly532Glu
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Gly569Ala
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.His168Arg
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.His506Asn
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.His553Pro
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.His559Asp
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Ile301Thr
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Ile339Leu
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Ile373Val
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Ile394Ser
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Ile560Val
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Leu107Ile
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Leu122Phe
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Leu218Val
Uncertain significance
Single submitter
Senior-Loken syndrome 5
- IQCB1 p.Leu277Arg Uncertain significance Single submitter
-
IQCB1 p.Leu348His
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Leu414Phe
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Leu557Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Leu587Ile
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Lys232Gln
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Lys263Glu
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Lys334Glu
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Lys429Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Lys437Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Lys437Glu
Uncertain significance
Single submitter
Senior-Loken syndrome 5
Predictors split 37
The independent predictors disagree with each other — read with care.
-
IQCB1 p.Ala427Glu
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Arg435Cys
Benign/Likely benign
Multiple submitters
nephronophthisis
-
IQCB1 p.Gln302Glu
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Gln424Arg
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.His483Asp
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Ile393Asn
Benign/Likely benign
Multiple submitters
nephronophthisis
-
IQCB1 p.Leu108Phe
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Leu149Pro
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Leu152Arg
Uncertain significance
Multiple submitters
nephronophthisis
-
IQCB1 p.Leu153Ser
Uncertain significance
Multiple submitters
Senior-Loken syndrome 5
-
IQCB1 p.Leu94Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IQCB1 p.Phe142Leu
Benign/Likely benign
Multiple submitters
nephronophthisis
-
IQCB1 p.Tyr254Cys
Uncertain significance
Multiple submitters
Senior-Loken syndrome 5
-
IQCB1 p.Ala129Pro
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Ala14Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Ala230Thr
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Arg454Cys
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Arg489Gln
Conflicting
Single submitter
Inborn genetic diseases
-
IQCB1 p.Gln302Lys
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Gln342Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Glu387Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.His241Arg
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.His375Gln
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Ile10Asn
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Ile180Thr
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Leu172Ile
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Leu235Gln
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Leu261Gln
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Lys306Thr
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Met187Lys
Conflicting
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Pro525Leu
Uncertain significance
Single submitter
Senior-Loken syndrome 5
-
IQCB1 p.Pro525Ser
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Pro525Thr
Uncertain significance
Single submitter
nephronophthisis
-
IQCB1 p.Pro563Ala
Uncertain significance
Single submitter
nephronophthisis
- IQCB1 p.Ser88Asn Uncertain significance Single submitter
-
IQCB1 p.Trp77Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IQCB1 p.Tyr254His
Uncertain significance
Single submitter
Inborn genetic diseases
All IQCB1 variants
Pathogenic 46
- c.264-2A>T Multiple submitters nephronophthisis
- p.Arg275fs Multiple submitters IQCB1-related disorder
- p.Arg332Ter Multiple submitters nephronophthisis
- p.Arg364Ter Multiple submitters IQCB1-related disorder
- p.Arg445Ter Multiple submitters nephronophthisis
- p.Arg455Ter Multiple submitters inherited retinal dystrophy
- p.Arg461Ter Multiple submitters IQCB1-related disorder
- p.Arg489Ter Multiple submitters IQCB1-related disorder
- p.Arg502Ter Multiple submitters IQCB1-related disorder
- p.Arg72Ter Multiple submitters IQCB1-related disorder
- p.Gln165Ter Multiple submitters nephronophthisis
- p.Gln513Ter Multiple submitters nephronophthisis
- p.Glu346Ter Multiple submitters IQCB1-related disorder
- p.His506fs Multiple submitters IQCB1-related disorder
- p.Ile301fs Multiple submitters nephronophthisis
- p.Phe142fs Multiple submitters IQCB1-related disorder
- p.Ser271fs Multiple submitters Leber congenital amaurosis
- p.Trp444Ter Multiple submitters IQCB1-related disorder
- c.1130-1G>C Single submitter
- c.394-2A>G Single submitter Senior-Loken syndrome 5
- p.Arg201Ter Single submitter nephronophthisis
- p.Arg249Ter Single submitter retinal disorder
- p.Cys253Ter Single submitter nephronophthisis
- p.Gln272Ter Single submitter Senior-Loken syndrome 5
- p.Gln448Ter Single submitter Senior-Loken syndrome 5
- p.Gln491Ter Single submitter nephronophthisis
- p.Gln504Ter Single submitter nephronophthisis
- p.Gln505fs Single submitter
- p.Gln60Ter Single submitter nephronophthisis
- p.Glu243fs Single submitter nephronophthisis
- p.Glu288fs Single submitter nephronophthisis
- p.Glu501Ter Single submitter nephronophthisis
- p.Glu98fs Single submitter nephronophthisis
- p.Gly307fs Single submitter nephronophthisis
- p.His171fs Single submitter Senior-Loken syndrome 5
- p.Ile160fs Single submitter Senior-Loken syndrome 5
- p.Leu164fs Single submitter nephronophthisis
- p.Leu46Ter Single submitter nephronophthisis
- p.Leu499fs Single submitter nephronophthisis
- p.Lys438_Lys439delinsAsnTer Single submitter nephronophthisis
- p.Ser251fs Single submitter nephronophthisis
- p.Trp398Ter Single submitter Leber congenital amaurosis
- p.Val92fs Single submitter nephronophthisis
- p.Ala112fs No assertion criteria Senior-Loken syndrome 5
- p.Gln357Ter No assertion criteria Senior-Loken syndrome 5
- p.Leu149fs No assertion criteria Senior-Loken syndrome 5
Pathogenic/Likely pathogenic 7
- c.488-1G>A Multiple submitters nephronophthisis
- p.Ala509fs Multiple submitters nephronophthisis
- p.Arg329fs Multiple submitters Senior-Loken syndrome 5
- p.Cys253fs Multiple submitters nephronophthisis
- p.Glu273Ter Multiple submitters nephronophthisis
- p.Glu288Ter Multiple submitters Senior-Loken syndrome 5
- p.Glu34Ter Multiple submitters IQCB1-related disorder
Likely pathogenic 39
- p.Gln193Ter Multiple submitters Senior-Loken syndrome 5
- p.Glu449Ter Multiple submitters Senior-Loken syndrome 5
- p.Leu261fs Multiple submitters IQCB1-related disorder
- c.100+1G>A Single submitter Senior-Loken syndrome 5
- c.101-1G>A Single submitter nephronophthisis
- c.101-1G>T Single submitter nephronophthisis
- c.1129+1G>A Single submitter Senior-Loken syndrome 5
- c.1278+2del Single submitter nephronophthisis
- c.1568-2A>G Single submitter Senior-Loken syndrome 5
- c.263+1G>T Single submitter Senior-Loken syndrome 5
- c.393+1G>A Single submitter IQCB1-related disorder
- c.393+1G>C Single submitter nephronophthisis
- c.394-1G>A Single submitter nephronophthisis
- c.488-2A>G Single submitter Senior-Loken syndrome 5
- c.588-1G>A Single submitter Senior-Loken syndrome 5
- c.588-2A>G Single submitter nephronophthisis
- c.767-2A>G Single submitter Senior-Loken syndrome 5
- c.986+1G>T Single submitter Senior-Loken syndrome 5
- p.Gln161Ter Single submitter Senior-Loken syndrome 5
- p.Gln287Ter Single submitter Senior-Loken syndrome 5
- p.Gln342Ter Single submitter Senior-Loken syndrome 5
- p.Gln351Ter Single submitter Senior-Loken syndrome 5
- p.Gln51fs Single submitter Senior-Loken syndrome 5
- p.Gln51Ter Single submitter Senior-Loken syndrome 5
- p.Gln520fs Single submitter Senior-Loken syndrome 5
- p.Glu534fs Single submitter Senior-Loken syndrome 5
- p.Ile210fs Single submitter Senior-Loken syndrome 5
- p.Ile514fs Single submitter Senior-Loken syndrome 5
- p.Leu138Ter Single submitter Senior-Loken syndrome 5
- p.Leu260_Leu261insTer Single submitter Senior-Loken syndrome 5
- p.Leu352fs Single submitter Senior-Loken syndrome 5
- p.Lys349fs Single submitter Senior-Loken syndrome 5
- p.Met1Ile Single submitter IQCB1-related disorder
- p.Met370fs Single submitter IQCB1-related disorder
- p.Ser240fs Single submitter Senior-Loken syndrome 5
- p.Ser413fs Single submitter IQCB1-related disorder
- p.Tyr401Ter Single submitter Senior-Loken syndrome 5
- c.1278+1G>A No assertion criteria inherited retinal dystrophy
- p.Leu87Ter No assertion criteria Leber congenital amaurosis
Conflicting classifications of pathogenicity 26
- c.1129+13A>G Single submitter nephronophthisis
- c.1278+3G>A Single submitter nephronophthisis
- c.394-15_394-10dup Single submitter nephronophthisis
- c.877-10G>A Single submitter nephronophthisis
- c.877-11C>T Single submitter nephronophthisis
- c.-12-4A>T Single submitter Senior-Loken syndrome 5
- p.Ala238= Single submitter nephronophthisis
- p.Ala427Thr Single submitter Inborn genetic diseases ⚠
- p.Ala552= Single submitter nephronophthisis
- p.Arg259Cys Single submitter nephronophthisis ⚠
- p.Arg489Gln Single submitter Inborn genetic diseases ⚠
- p.Arg502Gln Single submitter Inborn genetic diseases ⚠
- p.Asn517Tyr Single submitter nephronophthisis ⚠
- p.Gln353= Single submitter nephronophthisis
- p.Gln520Ter Single submitter nephronophthisis
- p.Glu481Lys Single submitter nephronophthisis ⚠
- p.Leu116= Single submitter nephronophthisis
- p.Leu261Arg Single submitter Senior-Loken syndrome 5
- p.Leu294Val Single submitter nephronophthisis ⚠
- p.Leu30Phe Single submitter nephronophthisis ⚠
- p.Leu537= Single submitter nephronophthisis
- p.Leu568Pro Single submitter nephronophthisis ⚠
- p.Met187Lys Single submitter Senior-Loken syndrome 5 ⚠
- p.Tyr465His Single submitter Senior-Loken syndrome 5 ⚠
- p.Val163Ile Single submitter nephronophthisis ⚠
- p.Val456= Single submitter nephronophthisis
Benign 50
- c.101-48T>C Multiple submitters
- c.1129+90T>A Multiple submitters
- c.1130-136G>A Multiple submitters
- c.1410+74AT[4] Multiple submitters Senior-Loken syndrome 5
- c.1410+81GT[17] Multiple submitters Senior-Loken syndrome 5
- c.1568-19del Multiple submitters nephronophthisis
- c.488-91C>T Multiple submitters
- c.587+154A>C Multiple submitters
- c.587+84G>A Multiple submitters
- c.587+92T>C Multiple submitters
- c.588-94C>T Multiple submitters
- c.766+46T>C Multiple submitters
- c.-12-43C>T Multiple submitters
- c.-193T>C Multiple submitters Senior-Loken syndrome 5
- c.*197G>C Multiple submitters Senior-Loken syndrome 5
- p.Arg259His Multiple submitters nephronophthisis
- p.Cys434Tyr Multiple submitters nephronophthisis
- p.Leu192= Multiple submitters nephronophthisis
- c.1129+81A>T Single submitter
- c.1130-98_1130-93del Single submitter
- c.1279-8del Single submitter nephronophthisis
- c.1410+287T>G Single submitter
- c.1410+81GT[13] Single submitter
- c.1410+81GT[14] Single submitter
- c.1410+81GT[16] Single submitter
- c.1410+81GT[18] Single submitter
- c.1410+81GT[8] Single submitter
- c.1411-249_1411-248del Single submitter
- c.1567+292C>G Single submitter
- c.1568-191G>T Single submitter
- c.394-48del Single submitter
- c.394-61dup Single submitter
- c.487+176C>T Single submitter
- c.487+244T>A Single submitter
- c.488-13del Single submitter nephronophthisis
- c.587+38del Single submitter
- c.588-10G>T Single submitter
- c.766+210C>T Single submitter
- c.767-227_767-226del Single submitter
- c.767-228_767-226del Single submitter
- c.767-238dup Single submitter
- c.767-262del Single submitter
- c.876+13dup Single submitter
- c.877-46del Single submitter
- c.877-47_877-46del Single submitter
- c.877-59dup Single submitter
- c.986+143A>G Single submitter
- c.986+9del Single submitter nephronophthisis
- c.987-312A>G Single submitter
- c.987-318T>C Single submitter
Benign/Likely benign 11
- c.488-13dup Multiple submitters nephronophthisis
- c.588-16del Multiple submitters nephronophthisis
- c.588-25dup Multiple submitters Senior-Loken syndrome 5
- c.588-5A>G Multiple submitters nephronophthisis
- c.987-17C>T Multiple submitters Senior-Loken syndrome 5
- p.Ala503= Multiple submitters nephronophthisis
- p.Arg435Cys Multiple submitters nephronophthisis ⚠
- p.Ile393Asn Multiple submitters nephronophthisis ⚠
- p.Lys437= Multiple submitters nephronophthisis
- p.Phe142Leu Multiple submitters nephronophthisis ⚠
- p.Ser196= Multiple submitters nephronophthisis
Likely benign 161
- c.1130-11C>A Multiple submitters nephronophthisis
- c.1278+9A>G Multiple submitters nephronophthisis
- c.1279-15T>A Multiple submitters nephronophthisis
- c.1410+18C>T Multiple submitters nephronophthisis
- c.1567+17C>T Multiple submitters nephronophthisis
- c.1568-13C>T Multiple submitters nephronophthisis
- c.264-10C>T Multiple submitters nephronophthisis
- c.264-208A>G Multiple submitters
- c.393+15A>G Multiple submitters nephronophthisis
- c.588-16T>A Multiple submitters nephronophthisis
- c.767-12A>G Multiple submitters Senior-Loken syndrome 5
- c.876+19A>G Multiple submitters nephronophthisis
- c.987-15C>G Multiple submitters nephronophthisis
- p.Ala427= Multiple submitters nephronophthisis
- p.Arg445= Multiple submitters nephronophthisis
- p.Gln448= Multiple submitters nephronophthisis
- p.Gly181= Multiple submitters nephronophthisis
- p.His397= Multiple submitters nephronophthisis
- p.Leu350= Multiple submitters nephronophthisis
- p.Leu482= Multiple submitters nephronophthisis
- p.Leu87= Multiple submitters nephronophthisis
- p.Pro96= Multiple submitters nephronophthisis
- p.Tyr54= Multiple submitters Senior-Loken syndrome 5
- c.100+14T>C Single submitter nephronophthisis
- c.100+64A>G Single submitter
- c.101-13C>T Single submitter nephronophthisis
- c.101-14T>G Single submitter nephronophthisis
- c.101-18T>G Single submitter nephronophthisis
- c.101-47G>A Single submitter
- c.101-4T>G Single submitter nephronophthisis
- c.101-6C>T Single submitter nephronophthisis
- c.101-9T>A Single submitter nephronophthisis
- c.1129+17A>G Single submitter nephronophthisis
- c.1129+17A>T Single submitter nephronophthisis
- c.1130-13A>G Single submitter
- c.1130-14dup Single submitter nephronophthisis
- c.1130-19G>C Single submitter nephronophthisis
- c.1130-20A>G Single submitter nephronophthisis
- c.1130-258A>G Single submitter
- c.1130-271del Single submitter
- c.1130-287dup Single submitter
- c.1278+12G>A Single submitter nephronophthisis
- c.1279-10_1279-8del Single submitter nephronophthisis
- c.1279-14T>G Single submitter nephronophthisis
- c.1279-17A>C Single submitter nephronophthisis
- c.1279-6T>C Single submitter nephronophthisis
- c.1410+13T>C Single submitter nephronophthisis
- c.1410+19A>G Single submitter nephronophthisis
- c.1410+20T>G Single submitter nephronophthisis
- c.1410+79_1410+80insA Single submitter
- c.1410+81_1410+85del Single submitter
- c.1411-12C>G Single submitter nephronophthisis
- c.1411-4C>T Single submitter nephronophthisis
- c.1567+10C>G Single submitter nephronophthisis
- c.1567+20T>C Single submitter nephronophthisis
- c.1568-10T>C Single submitter nephronophthisis
- c.1568-11G>A Single submitter nephronophthisis
- c.1568-19T>A Single submitter nephronophthisis
- c.1568-6C>T Single submitter nephronophthisis
- c.263+18G>A Single submitter nephronophthisis
- c.264-17T>C Single submitter nephronophthisis
- c.264-18C>A Single submitter nephronophthisis
- c.264-20A>C Single submitter nephronophthisis
- c.264-21G>A Single submitter
- c.264-5T>A Single submitter nephronophthisis
- c.264-8T>C Single submitter nephronophthisis
- c.393+15A>C Single submitter nephronophthisis
- c.393+210T>C Single submitter
- c.393+8T>A Single submitter nephronophthisis
- c.393+9T>C Single submitter nephronophthisis
- c.394-18C>T Single submitter nephronophthisis
- c.394-61_394-60dup Single submitter
- c.487+16T>A Single submitter nephronophthisis
- c.487+17T>C Single submitter nephronophthisis
- c.487+19A>G Single submitter nephronophthisis
- c.487+83G>A Single submitter
- c.487+9A>T Single submitter nephronophthisis
- c.488-22_488-19del Single submitter nephronophthisis
- c.488-5T>G Single submitter nephronophthisis
- c.488-7C>G Single submitter nephronophthisis
- c.587+11T>G Single submitter nephronophthisis
- c.587+164T>C Single submitter
- c.766+13T>G Single submitter
- c.766+19_766+22del Single submitter nephronophthisis
- c.767-11T>C Single submitter nephronophthisis
- c.767-9C>A Single submitter nephronophthisis
- c.767-9C>T Single submitter nephronophthisis
- c.876+12C>T Single submitter nephronophthisis
- c.876+12dup Single submitter nephronophthisis
- c.876+16A>T Single submitter nephronophthisis
- c.876+18_876+24del Single submitter nephronophthisis
- c.876+238A>G Single submitter
- c.876+45AT[3] Single submitter
- c.877-17T>C Single submitter nephronophthisis
- c.877-43del Single submitter
- c.877-59_877-58dup Single submitter
- c.986+14G>T Single submitter nephronophthisis
- c.986+20G>A Single submitter nephronophthisis
- c.-178C>T Single submitter Senior-Loken syndrome 5
- p.Ala129= Single submitter nephronophthisis
- p.Ala175= Single submitter nephronophthisis
- p.Ala183= Single submitter nephronophthisis
- p.Ala297= Single submitter nephronophthisis
- p.Ala298= Single submitter nephronophthisis
- p.Ala432= Single submitter nephronophthisis
- p.Ala549= Single submitter nephronophthisis
- p.Arg402= Single submitter nephronophthisis
- p.Arg404= Single submitter nephronophthisis
- p.Arg455= Single submitter nephronophthisis
- p.Arg461Gln Single submitter Inborn genetic diseases
- p.Arg489= Single submitter nephronophthisis
- p.Arg497= Single submitter nephronophthisis
- p.Asn517= Single submitter nephronophthisis
- p.Gln351= Single submitter nephronophthisis
- p.Gln561= Single submitter nephronophthisis
- p.Gln60= Single submitter nephronophthisis
- p.Glu288= Single submitter nephronophthisis
- p.Glu45= Single submitter nephronophthisis
- p.Glu457= Single submitter nephronophthisis
- p.Glu481= Single submitter nephronophthisis
- p.Glu536= Single submitter nephronophthisis
- p.Glu582= Single submitter nephronophthisis
- p.Gly42= Single submitter nephronophthisis
- p.Gly569= Single submitter nephronophthisis
- p.His506= Single submitter nephronophthisis
- p.Ile10= Single submitter nephronophthisis
- p.Leu11= Single submitter nephronophthisis
- p.Leu118= Single submitter nephronophthisis
- p.Leu122= Single submitter nephronophthisis
- p.Leu149= Single submitter nephronophthisis
- p.Leu164= Single submitter nephronophthisis
- p.Leu199= Single submitter nephronophthisis
- p.Leu235= Single submitter nephronophthisis
- p.Leu236= Single submitter nephronophthisis
- p.Leu32= Single submitter nephronophthisis
- p.Leu352= Single submitter nephronophthisis
- p.Leu366= Single submitter nephronophthisis
- p.Leu423= Single submitter nephronophthisis
- p.Leu490= Single submitter nephronophthisis
- p.Leu521= Single submitter nephronophthisis
- p.Leu94= Single submitter nephronophthisis
- p.Lys131Arg Single submitter nephronophthisis
- p.Lys316= Single submitter nephronophthisis
- p.Lys389= Single submitter nephronophthisis
- p.Lys405= Single submitter nephronophthisis
- p.Lys429= Single submitter nephronophthisis
- p.Lys50= Single submitter nephronophthisis
- p.Pro283= Single submitter nephronophthisis
- p.Pro318= Single submitter
- p.Pro535= Single submitter nephronophthisis
- p.Pro563= Single submitter nephronophthisis
- p.Ser282= Single submitter nephronophthisis
- p.Ser319= Single submitter
- p.Ser44= Single submitter nephronophthisis
- p.Ser584= Single submitter nephronophthisis
- p.Thr231= Single submitter nephronophthisis
- p.Thr268= Single submitter nephronophthisis
- p.Thr310= Single submitter nephronophthisis
- p.Thr84= Single submitter nephronophthisis
- p.Val25= Single submitter nephronophthisis
- p.Ser472= No assertion criteria IQCB1-related disorder
Uncertain significance 271
- c.1567+3A>G Multiple submitters nephronophthisis
- c.1567+5del Multiple submitters nephronophthisis
- p.Ala427Glu Multiple submitters nephronophthisis ⚠
- p.Ala427Val Multiple submitters nephronophthisis ⚠
- p.Ala442Ser Multiple submitters nephronophthisis ⚠
- p.Ala484Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala512Val Multiple submitters Inborn genetic diseases
- p.Ala547fs Multiple submitters nephronophthisis
- p.Arg364Gln Multiple submitters Senior-Loken syndrome 5 ⚠
- p.Arg384Gln Multiple submitters nephronophthisis ⚠
- p.Arg384Trp Multiple submitters Senior-Loken syndrome 5 ⚠
- p.Arg404Gly Multiple submitters Inborn genetic diseases
- p.Arg445Gln Multiple submitters nephronophthisis ⚠
- p.Arg455Gln Multiple submitters Senior-Loken syndrome 5 ⚠
- p.Arg467Gly Multiple submitters nephronophthisis ⚠
- p.Arg72Gln Multiple submitters nephronophthisis ⚠
- p.Arg72Gly Multiple submitters Senior-Loken syndrome 5 ⚠
- p.Asn105Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn128Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn406Tyr Multiple submitters nephronophthisis ⚠
- p.Asp347Val Multiple submitters Senior-Loken syndrome 5 ⚠
- p.Asp52Gly Multiple submitters nephronophthisis
- p.Asp581His Multiple submitters Inborn genetic diseases ⚠
- p.Cys299Ser Multiple submitters nephronophthisis ⚠
- p.Cys91Tyr Multiple submitters nephronophthisis ⚠
- p.Gln161Arg Multiple submitters nephronophthisis ⚠
- p.Gln193His Multiple submitters Inborn genetic diseases ⚠
- p.Gln23Arg Multiple submitters nephronophthisis ⚠
- p.Gln272Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln276Glu Multiple submitters Senior-Loken syndrome 5 ⚠
- p.Gln302Glu Multiple submitters nephronophthisis ⚠
- p.Gln357Glu Multiple submitters nephronophthisis ⚠
- p.Gln424Arg Multiple submitters nephronophthisis ⚠
- p.Glu137Gly Multiple submitters nephronophthisis ⚠
- p.Glu22Gln Multiple submitters nephronophthisis ⚠
- p.Glu365Lys Multiple submitters nephronophthisis ⚠
- p.Glu385Gln Multiple submitters Senior-Loken syndrome 5 ⚠
- p.Glu457Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly496Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly496Asp Multiple submitters nephronophthisis ⚠
- p.Gly532Arg Multiple submitters Senior-Loken syndrome 5 ⚠
- p.His295Arg Multiple submitters nephronophthisis ⚠
- p.His375Asn Multiple submitters nephronophthisis ⚠
- p.His397Arg Multiple submitters nephronophthisis ⚠
- p.His469Arg Multiple submitters nephronophthisis ⚠
- p.His483Asp Multiple submitters nephronophthisis ⚠
- p.His553Tyr Multiple submitters nephronophthisis
- p.Ile160Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile194Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ile226Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile244Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile53Val Multiple submitters nephronophthisis ⚠
- p.Ile576Thr Multiple submitters nephronophthisis ⚠
- p.Ile80Val Multiple submitters Senior-Loken syndrome 5 ⚠
- p.Leu108Phe Multiple submitters nephronophthisis ⚠
- p.Leu149Ile Multiple submitters nephronophthisis ⚠
- p.Leu149Pro Multiple submitters nephronophthisis ⚠
- p.Leu152Arg Multiple submitters nephronophthisis ⚠
- p.Leu153Ser Multiple submitters Senior-Loken syndrome 5 ⚠
- p.Leu164Pro Multiple submitters nephronophthisis ⚠
- p.Leu29Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu414Val Multiple submitters nephronophthisis ⚠
- p.Leu440Pro Multiple submitters nephronophthisis ⚠
- p.Leu94Trp Multiple submitters Inborn genetic diseases ⚠
- p.Lys19Glu Multiple submitters Senior-Loken syndrome 5 ⚠
- p.Lys334Gln Multiple submitters nephronophthisis ⚠
- p.Lys349Arg Multiple submitters nephronophthisis ⚠
- p.Lys433Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys48Glu Multiple submitters nephronophthisis ⚠
- p.Met335Val Multiple submitters nephronophthisis ⚠
- p.Met474Val Multiple submitters nephronophthisis ⚠
- p.Phe494Ile Multiple submitters Senior-Loken syndrome 5 ⚠
- p.Pro318Ala Multiple submitters Inborn genetic diseases
- p.Pro40Ser Multiple submitters nephronophthisis ⚠
- p.Ser209Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ser526Arg Multiple submitters nephronophthisis ⚠
- p.Thr231Ile Multiple submitters nephronophthisis ⚠
- p.Tyr208Cys Multiple submitters nephronophthisis ⚠
- p.Tyr254Cys Multiple submitters Senior-Loken syndrome 5 ⚠
- p.Tyr417Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val178Ile Multiple submitters nephronophthisis ⚠
- p.Val518Ile Multiple submitters nephronophthisis ⚠
- c.1278+7C>T Single submitter Senior-Loken syndrome 5
- c.1279-16A>G Single submitter nephronophthisis
- c.1411-6T>A Single submitter nephronophthisis
- c.1567+4T>C Single submitter nephronophthisis
- c.1568-2A>C Single submitter Senior-Loken syndrome 5
- c.264-10C>G Single submitter Senior-Loken syndrome 5
- c.264-3C>T Single submitter nephronophthisis
- c.394-3A>G Single submitter nephronophthisis
- c.487+5G>A Single submitter
- c.487+6A>G Single submitter nephronophthisis
- c.587+3G>A Single submitter Senior-Loken syndrome 5
- c.588-18T>A Single submitter nephronophthisis
- c.766+5T>C Single submitter nephronophthisis
- c.877-8C>G Single submitter nephronophthisis
- c.986+5A>C Single submitter nephronophthisis
- c.-102+1G>A Single submitter Senior-Loken syndrome 5
- c.-154T>G Single submitter Senior-Loken syndrome 5
- c.-179G>A Single submitter Senior-Loken syndrome 5
- c.-185C>G Single submitter Senior-Loken syndrome 5
- c.-190C>T Single submitter Senior-Loken syndrome 5
- c.*148T>C Single submitter Senior-Loken syndrome 5
- c.*151T>C Single submitter Senior-Loken syndrome 5
- c.*160C>T Single submitter Senior-Loken syndrome 5
- c.*218G>A Single submitter Senior-Loken syndrome 5
- c.*226T>C Single submitter Senior-Loken syndrome 5
- c.*327T>C Single submitter Senior-Loken syndrome 5
- c.*399A>G Single submitter Senior-Loken syndrome 5
- p.Ala100Thr Single submitter nephronophthisis ⚠
- p.Ala111Val Single submitter nephronophthisis ⚠
- p.Ala129Pro Single submitter nephronophthisis ⚠
- p.Ala14Val Single submitter Inborn genetic diseases ⚠
- p.Ala206Val Single submitter Senior-Loken syndrome 5 ⚠
- p.Ala230Thr Single submitter nephronophthisis ⚠
- p.Ala359Ser Single submitter nephronophthisis ⚠
- p.Ala427Gly Single submitter Senior-Loken syndrome 5 ⚠
- p.Ala432Thr Single submitter ⚠
- p.Ala432Val Single submitter nephronophthisis ⚠
- p.Ala498Thr Single submitter Senior-Loken syndrome 5 ⚠
- p.Ala530Glu Single submitter nephronophthisis ⚠
- p.Ala552Val Single submitter nephronophthisis ⚠
- p.Arg227Gly Single submitter Inborn genetic diseases ⚠
- p.Arg258Gly Single submitter nephronophthisis ⚠
- p.Arg275Gly Single submitter Senior-Loken syndrome 5 ⚠
- p.Arg275Lys Single submitter Inborn genetic diseases ⚠
- p.Arg361Ile Single submitter Inborn genetic diseases
- p.Arg425Lys Single submitter nephronophthisis ⚠
- p.Arg435His Single submitter nephronophthisis ⚠
- p.Arg454Cys Single submitter nephronophthisis ⚠
- p.Arg454His Single submitter Senior-Loken syndrome 5 ⚠
- p.Arg497Ser Single submitter Inborn genetic diseases
- p.Asn114His Single submitter nephronophthisis ⚠
- p.Asn517Asp Single submitter nephronophthisis ⚠
- p.Asn517Ser Single submitter nephronophthisis ⚠
- p.Asp136His Single submitter Inborn genetic diseases ⚠
- p.Asp212Glu Single submitter nephronophthisis ⚠
- p.Asp212Gly Single submitter nephronophthisis ⚠
- p.Asp212His Single submitter nephronophthisis ⚠
- p.Asp463Asn Single submitter Senior-Loken syndrome 5 ⚠
- p.Asp574Asn Single submitter nephronophthisis ⚠
- p.Asp57Tyr Single submitter Senior-Loken syndrome 5 ⚠
- p.Asp99Asn Single submitter nephronophthisis ⚠
- p.Gln121Arg Single submitter nephronophthisis ⚠
- p.Gln123His Single submitter nephronophthisis ⚠
- p.Gln165Glu Single submitter nephronophthisis ⚠
- p.Gln179Pro Single submitter Senior-Loken syndrome 5 ⚠
- p.Gln264Pro Single submitter Senior-Loken syndrome 5 ⚠
- p.Gln287His Single submitter nephronophthisis ⚠
- p.Gln296Arg Single submitter nephronophthisis ⚠
- p.Gln302Lys Single submitter nephronophthisis ⚠
- p.Gln309Arg Single submitter ⚠
- p.Gln309His Single submitter nephronophthisis ⚠
- p.Gln325His Single submitter nephronophthisis ⚠
- p.Gln342Pro Single submitter Inborn genetic diseases ⚠
- p.Gln367His Single submitter Inborn genetic diseases ⚠
- p.Gln378His Single submitter Senior-Loken syndrome 5 ⚠
- p.Gln395Leu Single submitter nephronophthisis ⚠
- p.Gln409Arg Single submitter nephronophthisis ⚠
- p.Gln412Leu Single submitter nephronophthisis ⚠
- p.Gln485Glu Single submitter Senior-Loken syndrome 5 ⚠
- p.Gln51His Single submitter nephronophthisis ⚠
- p.Gln561Glu Single submitter nephronophthisis ⚠
- p.Gln74Arg Single submitter nephronophthisis ⚠
- p.Gln82Arg Single submitter nephronophthisis ⚠
- p.Glu102Asp Single submitter Senior-Loken syndrome 5 ⚠
- p.Glu133Lys Single submitter Inborn genetic diseases ⚠
- p.Glu213Asp Single submitter Inborn genetic diseases ⚠
- p.Glu22Gly Single submitter nephronophthisis ⚠
- p.Glu22Lys Single submitter Inborn genetic diseases ⚠
- p.Glu243Lys Single submitter Inborn genetic diseases ⚠
- p.Glu291Lys Single submitter nephronophthisis ⚠
- p.Glu372Lys Single submitter Inborn genetic diseases ⚠
- p.Glu387Gly Single submitter Inborn genetic diseases ⚠
- p.Glu500Gly Single submitter nephronophthisis ⚠
- p.Glu500Lys Single submitter nephronophthisis ⚠
- p.Glu571Ter Single submitter nephronophthisis
- p.Glu588Ala Single submitter Inborn genetic diseases ⚠
- p.Gly154Glu Single submitter nephronophthisis ⚠
- p.Gly471Cys Single submitter Senior-Loken syndrome 5 ⚠
- p.Gly532Glu Single submitter Senior-Loken syndrome 5 ⚠
- p.Gly569Ala Single submitter nephronophthisis ⚠
- p.His168Arg Single submitter Senior-Loken syndrome 5 ⚠
- p.His241Arg Single submitter Senior-Loken syndrome 5 ⚠
- p.His375Gln Single submitter nephronophthisis ⚠
- p.His382Pro Single submitter Senior-Loken syndrome 5
- p.His506Asn Single submitter nephronophthisis ⚠
- p.His553Pro Single submitter Senior-Loken syndrome 5 ⚠
- p.His559Asp Single submitter nephronophthisis ⚠
- p.Ile10Asn Single submitter nephronophthisis ⚠
- p.Ile180Thr Single submitter nephronophthisis ⚠
- p.Ile301Thr Single submitter Senior-Loken syndrome 5 ⚠
- p.Ile339Leu Single submitter nephronophthisis ⚠
- p.Ile373Val Single submitter Senior-Loken syndrome 5 ⚠
- p.Ile394Ser Single submitter nephronophthisis ⚠
- p.Ile560Val Single submitter nephronophthisis ⚠
- p.Leu107Ile Single submitter nephronophthisis ⚠
- p.Leu122Phe Single submitter nephronophthisis ⚠
- p.Leu172Ile Single submitter nephronophthisis ⚠
- p.Leu207Pro Single submitter nephronophthisis
- p.Leu218Val Single submitter Senior-Loken syndrome 5 ⚠
- p.Leu235Gln Single submitter nephronophthisis ⚠
- p.Leu261Gln Single submitter nephronophthisis ⚠
- p.Leu277Arg Single submitter ⚠
- p.Leu317Phe Single submitter Senior-Loken syndrome 5
- p.Leu348His Single submitter Senior-Loken syndrome 5 ⚠
- p.Leu414Phe Single submitter nephronophthisis ⚠
- p.Leu527Pro Single submitter Inborn genetic diseases
- p.Leu557Met Single submitter Inborn genetic diseases ⚠
- p.Leu587Ile Single submitter Senior-Loken syndrome 5 ⚠
- p.Leu590Ter Single submitter nephronophthisis
- p.Lys232Gln Single submitter Senior-Loken syndrome 5 ⚠
- p.Lys263Glu Single submitter Senior-Loken syndrome 5 ⚠
- p.Lys306Thr Single submitter nephronophthisis ⚠
- p.Lys334Glu Single submitter nephronophthisis ⚠
- p.Lys418Thr Single submitter nephronophthisis
- p.Lys429Asn Single submitter Inborn genetic diseases ⚠
- p.Lys437Arg Single submitter Inborn genetic diseases ⚠
- p.Lys437Glu Single submitter Senior-Loken syndrome 5 ⚠
- p.Lys47Glu Single submitter nephronophthisis ⚠
- p.Lys533Arg Single submitter Senior-Loken syndrome 5 ⚠
- p.Lys550Arg Single submitter Senior-Loken syndrome 5 ⚠
- p.Lys580Gln Single submitter nephronophthisis ⚠
- p.Lys580Thr Single submitter Senior-Loken syndrome 5 ⚠
- p.Met185Val Single submitter Senior-Loken syndrome 5 ⚠
- p.Met186Ile Single submitter ⚠
- p.Met284Val Single submitter nephronophthisis ⚠
- p.Met386Val Single submitter Senior-Loken syndrome 5 ⚠
- p.Met495Thr Single submitter nephronophthisis ⚠
- p.Phe115Cys Single submitter Inborn genetic diseases ⚠
- p.Pro21Leu Single submitter nephronophthisis ⚠
- p.Pro222Ser Single submitter nephronophthisis ⚠
- p.Pro26Ser Single submitter nephronophthisis ⚠
- p.Pro473Leu Single submitter nephronophthisis ⚠
- p.Pro525_Ser526delinsArg Single submitter nephronophthisis
- p.Pro525Leu Single submitter Senior-Loken syndrome 5 ⚠
- p.Pro525Ser Single submitter nephronophthisis ⚠
- p.Pro525Thr Single submitter nephronophthisis ⚠
- p.Pro563Ala Single submitter nephronophthisis ⚠
- p.Pro563Arg Single submitter nephronophthisis
- p.Ser182Tyr Single submitter ⚠
- p.Ser223Asn Single submitter ⚠
- p.Ser240Ala Single submitter Inborn genetic diseases ⚠
- p.Ser327Asn Single submitter nephronophthisis ⚠
- p.Ser330Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser515Ile Single submitter Senior-Loken syndrome 5 ⚠
- p.Ser584Asn Single submitter nephronophthisis ⚠
- p.Ser67Gly Single submitter Inborn genetic diseases ⚠
- p.Ser88Asn Single submitter ⚠
- p.Thr229Ala Single submitter Senior-Loken syndrome 5 ⚠
- p.Thr39Ala Single submitter nephronophthisis ⚠
- p.Thr39Pro Single submitter nephronophthisis ⚠
- p.Thr556Ile Single submitter nephronophthisis ⚠
- p.Thr6Ala Single submitter nephronophthisis ⚠
- p.Thr79Ile Single submitter ⚠
- p.Trp564Ter Single submitter Senior-Loken syndrome 5
- p.Trp77Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr104Cys Single submitter ⚠
- p.Tyr208His Single submitter nephronophthisis ⚠
- p.Tyr254His Single submitter Inborn genetic diseases ⚠
- p.Tyr304Cys Single submitter nephronophthisis ⚠
- p.Tyr417Cys Single submitter Inborn genetic diseases ⚠
- p.Val184Ile Single submitter nephronophthisis ⚠
- p.Val285Phe Single submitter nephronophthisis ⚠
- p.Val321Glu Single submitter Senior-Loken syndrome 5 ⚠
- p.Val379Met Single submitter Senior-Loken syndrome 5 ⚠
- p.Val456Gly Single submitter nephronophthisis ⚠
- p.Val456Ile Single submitter Senior-Loken syndrome 5 ⚠
- p.Val545Ala Single submitter nephronophthisis
- c.1567+2_*2del No assertion criteria Senior-Loken syndrome 5
- p.Leu108Pro No assertion criteria inherited retinal dystrophy ⚠