INVS — 1107 ClinVar variants
All ClinVar germline INVS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 450 flagged for review →
67 Pathogenic · 21 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 57 Conflicting · 26 Benign · 17 Benign/Likely benign · 391 Likely benign · 492 Uncertain significance
Full INVS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 450
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 20
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
INVS p.Ala818Val
Conflicting
Single submitter
nephronophthisis
-
INVS p.Arg686Gly
Conflicting
Single submitter
nephronophthisis
-
INVS p.Arg734Gln
Conflicting
Single submitter
nephronophthisis
-
INVS p.Arg940Gln
Conflicting
Single submitter
nephronophthisis
-
INVS p.Asn648Ser
Conflicting
Single submitter
nephronophthisis
-
INVS p.Asn708Ser
Conflicting
Single submitter
nephronophthisis
-
INVS p.Asp657Glu
Conflicting
Single submitter
nephronophthisis
-
INVS p.Asp771Asn
Conflicting
Single submitter
nephronophthisis
-
INVS p.Gln796Glu
Conflicting
Single submitter
nephronophthisis 2
-
INVS p.His780Gln
Conflicting
Single submitter
nephronophthisis
-
INVS p.His935Tyr
Conflicting
Single submitter
nephronophthisis
-
INVS p.Leu40Val
Conflicting
Single submitter
nephronophthisis
-
INVS p.Leu670Pro
Conflicting
Single submitter
nephronophthisis 2
-
INVS p.Lys596Arg
Conflicting
Single submitter
nephronophthisis
-
INVS p.Lys642Arg
Conflicting
Single submitter
nephronophthisis
-
INVS p.Ser371Gly
Conflicting
Single submitter
Inborn genetic diseases
-
INVS p.Ser760Ala
Conflicting
Single submitter
Inborn genetic diseases
-
INVS p.Val23Ile
Conflicting
Single submitter
nephronophthisis 2
-
INVS p.Val649Met
Conflicting
Single submitter
nephronophthisis 2
-
INVS p.Val742Met
Conflicting
Single submitter
nephronophthisis
Predictors lean, ClinVar uncertain 328
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 328
-
INVS p.Ala329Ser
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Ala66Val
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Ala730Val
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Ala806Val
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Ala814Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Ala926Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg1027Cys
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Arg1027His
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Arg123Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg339Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg536Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg536His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg576Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg597Gln
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Arg603Gln
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Arg613Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg635Gly
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Arg638Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- INVS p.Arg638Trp Uncertain significance Multiple submitters
-
INVS p.Arg659Lys
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Arg715Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg734Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg762Gln
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Arg762Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg779Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg779Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg794Cys
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Arg794His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg810His
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Arg815Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg815Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg829Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg905Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg907Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Arg914Cys
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Arg925His
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Arg940Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Asn278Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Asn479Ser
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Asn499Ser
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Asn917Ser
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Asp679Tyr
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Asp732Asn
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Asp754Asn
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Asp870Glu
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Cys1036Arg
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Cys497Tyr
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Gln1035Glu
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Gln407Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Gln674Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Gln963Leu
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Glu1010Lys
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Glu605Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Glu755Lys
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Glu758Lys
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Glu854Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Gly333Cys
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Gly456Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Gly489Glu
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Gly664Arg
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Gly668Arg
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Gly718Arg
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Gly740Val
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Gly816Val
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.His154Arg
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.His199Asn
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.His847Tyr
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.His941Arg
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.His941Leu
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Ile1013Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Ile891Met
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Leu101Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Leu167Pro
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Leu460Trp
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Leu493Ser
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Leu767Phe
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Leu840Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Leu945His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Leu969Val
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Lys306Glu
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Lys446Gln
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Lys487Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Lys697Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Met53Thr
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Phe973Leu
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Pro1016Leu
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Pro117Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Pro449Ser
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Pro688Ser
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Pro784Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Ser1023Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Ser1024Phe
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Ser1050Phe
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Ser313Leu
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Ser665Cys
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Ser665Phe
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Ser677Ala
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Ser725Pro
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Ser80Asn
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Ser857Leu
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Ser929Gly
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Ser995Tyr
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Thr122Pro
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Thr458Ser
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Thr526Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Thr830Ile
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Thr877Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Thr996Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Val35Ile
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Val373Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Val703Ile
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Val896Ile
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Val896Leu
Uncertain significance
Multiple submitters
INVS-related disorder
-
INVS p.Val922Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Ala297Thr
Uncertain significance
Single submitter
nephronophthisis 2
-
INVS p.Ala329Glu
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Ala329Val
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Ala330Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Ala397Thr
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Ala463Thr
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Ala513Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Ala58Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Ala622Val
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Ala639Asp
Uncertain significance
Single submitter
nephronophthisis 2
-
INVS p.Ala66Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Ala701Gly
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Ala736Val
Uncertain significance
Single submitter
nephronophthisis 2
-
INVS p.Ala838Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Ala859Gly
Uncertain significance
Single submitter
nephronophthisis
- INVS p.Ala859Val Uncertain significance Single submitter
- INVS p.Ala978Val Uncertain significance Single submitter
-
INVS p.Arg1018Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- INVS p.Arg277Lys Uncertain significance Single submitter
-
INVS p.Arg32Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Arg339Lys
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Arg613Gln
Uncertain significance
Single submitter
inherited retinal dystrophy
- INVS p.Arg613Pro Uncertain significance Single submitter
-
INVS p.Arg656Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Arg659Gly
Uncertain significance
Single submitter
nephronophthisis 2
-
INVS p.Arg778Ser
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Arg810Cys
Uncertain significance
Single submitter
nephronophthisis
- INVS p.Arg832Lys Uncertain significance Single submitter
-
INVS p.Arg861Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Arg899Gln
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Arg907Leu
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Arg908Gly
Uncertain significance
Single submitter
nephronophthisis
- INVS p.Arg925Cys Uncertain significance Single submitter
-
INVS p.Arg954Lys
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Asn1029Asp
Uncertain significance
Single submitter
nephronophthisis
- INVS p.Asn1042Lys Uncertain significance Single submitter
Predictors split 102
The independent predictors disagree with each other — read with care.
-
INVS p.Ala157Thr
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Ala197Gly
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Ala297Val
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Ala552Thr
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Ala558Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Ala559Thr
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Ala592Pro
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Arg60Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Asn174His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Asp422His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Asp503Gly
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Gln145Lys
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Glu113Lys
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Glu220Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Glu303Lys
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Glu477Lys
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Glu545Gln
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Glu586Asp
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Gly547Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Gly547Ser
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.His154Leu
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.His267Arg
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.His272Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Ile175Thr
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Ile554Thr
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Ile557Ser
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Leu40Phe
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Leu532Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
INVS p.Met137Thr
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Phe96Leu
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Pro393Ala
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Pro515Leu
Uncertain significance
Multiple submitters
nephronophthisis
-
INVS p.Trp216Gly
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Val236Ala
Uncertain significance
Multiple submitters
nephronophthisis 2
-
INVS p.Val236Met
Uncertain significance
Multiple submitters
INVS-related disorder
-
INVS p.Val305Ile
Benign/Likely benign
Multiple submitters
nephronophthisis
-
INVS p.Ala363Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Ala552Val
Uncertain significance
Single submitter
nephronophthisis 2
- INVS p.Ala89Val Uncertain significance Single submitter
-
INVS p.Arg103Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Arg222Gln
Uncertain significance
Single submitter
nephronophthisis 2
-
INVS p.Arg256Gln
Uncertain significance
Single submitter
nephronophthisis 2
-
INVS p.Arg597Leu
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Arg928Gln
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Arg940Gly
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Arg95Cys
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Asn215Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Asn278Asp
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Asn278Tyr
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Asn379Asp
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Asn498Tyr
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Asp172Gly
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Asp231Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Asp238Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Asp316Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- INVS p.Asp336Tyr Uncertain significance Single submitter
-
INVS p.Asp417Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Asp503Val
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Asp556Ala
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Gln217Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Gln452Pro
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Glu321Gly
Uncertain significance
Single submitter
nephronophthisis 2
- INVS p.Glu399Asp Uncertain significance Single submitter
-
INVS p.Gly331Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Gly433Arg
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Gly466Arg
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.His124Arg
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.His171Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.His187Gln
Uncertain significance
Single submitter
nephronophthisis 2
-
INVS p.His391Tyr
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.His424Tyr
Uncertain significance
Single submitter
nephronophthisis 2
-
INVS p.His941Pro
Uncertain significance
Single submitter
nephronophthisis
- INVS p.Ile270Thr Uncertain significance Single submitter
-
INVS p.Ile562Met
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Leu493Phe
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Leu544Val
Uncertain significance
Single submitter
nephronophthisis 2
-
INVS p.Leu945Pro
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Lys355Asn
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Met400Ile
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Met583Thr
Uncertain significance
Single submitter
nephronophthisis 2
-
INVS p.Phe227Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Phe326Leu
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Phe47Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Phe913Leu
Uncertain significance
Single submitter
nephronophthisis 2
-
INVS p.Pro117Ser
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Pro209Ser
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Pro258Ser
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Ser80Arg
Uncertain significance
Single submitter
nephronophthisis 2
-
INVS p.Thr241Ile
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Thr304Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
INVS p.Trp107Arg
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Trp107Gly
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Trp927Arg
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Trp953Gly
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Tyr243His
Uncertain significance
Single submitter
nephronophthisis
- INVS p.Tyr468Cys Uncertain significance Single submitter
-
INVS p.Val419Ala
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.Val419Leu
Uncertain significance
Single submitter
nephronophthisis
- INVS p.Val56Leu Uncertain significance Single submitter
-
INVS p.Val571Ala
Uncertain significance
Single submitter
nephronophthisis
-
INVS p.His164Arg
Uncertain significance
No assertion criteria
nephronophthisis
-
INVS p.Tyr465His
Uncertain significance
No assertion criteria
INVS-related disorder
All INVS variants
Pathogenic 67
- c.1078+1G>A Multiple submitters nephronophthisis 2
- p.Arg222fs Multiple submitters nephronophthisis
- p.Arg576Ter Multiple submitters INVS-related disorders
- p.Arg603Ter Multiple submitters INVS-related disorders
- p.Arg907Ter Multiple submitters INVS-related disorders
- p.Arg928Ter Multiple submitters INVS-related disorders
- p.Gln485fs Multiple submitters INVS-related disorders
- p.Gln587fs Multiple submitters nephronophthisis
- p.Gln837Ter Multiple submitters nephronophthisis
- p.Trp216Ter Multiple submitters nephronophthisis
- p.Trp495Ter Multiple submitters nephronophthisis 2
- c.2786+2T>G Single submitter nephronophthisis
- p.Ala473fs Single submitter nephronophthisis
- p.Ala564fs Single submitter nephronophthisis
- p.Arg222Ter Single submitter nephronophthisis
- p.Arg686Ter Single submitter nephronophthisis
- p.Arg706fs Single submitter nephronophthisis
- p.Arg82fs Single submitter nephronophthisis
- p.Asp404fs Single submitter nephronophthisis
- p.Asp949fs Single submitter nephronophthisis
- p.Cys439Ter Single submitter nephronophthisis
- p.Cys471Ter Single submitter nephronophthisis
- p.Gln109Ter Single submitter nephronophthisis 2
- p.Gln269fs Single submitter nephronophthisis 2
- p.Gln452Ter Single submitter nephronophthisis
- p.Gln608fs Single submitter nephronophthisis
- p.Gln636Ter Single submitter nephronophthisis
- p.Gln671fs Single submitter nephronophthisis
- p.Gln681Ter Single submitter nephronophthisis
- p.Gln699fs Single submitter
- p.Gln744Ter Single submitter nephronophthisis
- p.Gln887Ter Single submitter nephronophthisis
- p.Gln944Ter Single submitter nephronophthisis
- p.Glu113fs Single submitter nephronophthisis
- p.Glu114fs Single submitter nephronophthisis
- p.Glu211fs Single submitter nephronophthisis
- p.Glu598fs Single submitter nephronophthisis
- p.Glu605fs Single submitter nephronophthisis
- p.Glu906fs Single submitter nephronophthisis
- p.Gly28fs Single submitter nephronophthisis
- p.Gly489Ter Single submitter nephronophthisis
- p.Gly668fs Single submitter nephronophthisis
- p.Gly668Ter Single submitter nephronophthisis
- p.Leu101fs Single submitter nephronophthisis
- p.Leu225fs Single submitter nephronophthisis
- p.Leu61fs Single submitter nephronophthisis
- p.Leu767fs Single submitter nephronophthisis
- p.Lys166fs Single submitter nephronophthisis
- p.Lys573Ter Single submitter nephronophthisis
- p.Lys604fs Single submitter nephronophthisis
- p.Lys792fs Single submitter nephronophthisis
- p.Lys875Ter Single submitter nephronophthisis
- p.Lys910fs Single submitter nephronophthisis
- p.Lys934fs Single submitter nephronophthisis
- p.Lys984_Ser985insProLeuGlnTer Single submitter nephronophthisis
- p.Pro292fs Single submitter nephronophthisis
- p.Ser346Ter Single submitter nephronophthisis
- p.Ser874fs Single submitter nephronophthisis
- p.Ser999Ter Single submitter nephronophthisis
- p.Trp107Ter Single submitter nephronophthisis
- p.Trp328Ter Single submitter nephronophthisis
- p.Trp774Ter Single submitter nephronophthisis
- p.Tyr251Ter Single submitter nephronophthisis 2
- p.Tyr501Ter Single submitter nephronophthisis
- p.Tyr525fs Single submitter nephronophthisis
- p.Tyr930Ter Single submitter nephronophthisis 2
- p.Val388fs Single submitter nephronophthisis
Pathogenic/Likely pathogenic 21
- c.1464+1G>T Multiple submitters nephronophthisis
- c.2786+1G>A Multiple submitters nephronophthisis 2
- c.2786+2T>C Multiple submitters nephronophthisis
- p.Arg256Ter Multiple submitters nephronophthisis 2
- p.Arg396Ter Multiple submitters nephronophthisis
- p.Arg597Ter Multiple submitters nephronophthisis
- p.Arg899Ter Multiple submitters INVS-related disorders
- p.Asn278fs Multiple submitters nephronophthisis
- p.Gln555Ter Multiple submitters INVS-related disorders
- p.Gln872Ter Multiple submitters nephronophthisis
- p.Gln963Ter Multiple submitters nephronophthisis
- p.Glu817fs Multiple submitters nephronophthisis
- p.Gly456fs Multiple submitters nephronophthisis
- p.His171fs Multiple submitters INVS-related disorders
- p.Lys743fs Multiple submitters nephronophthisis
- p.Lys834fs Multiple submitters nephronophthisis
- p.Ser721fs Multiple submitters nephronophthisis
- p.Ser991Ter Multiple submitters nephronophthisis
- p.Thr958fs Multiple submitters nephronophthisis 2
- p.Trp155Ter Multiple submitters INVS-related disorders
- p.Trp965Ter Multiple submitters INVS-related disorders
Likely pathogenic 36
- c.107-1G>A Multiple submitters nephronophthisis
- c.2068+2T>C Multiple submitters nephronophthisis 2
- c.2069-1G>T Multiple submitters nephronophthisis
- c.615+1G>A Multiple submitters nephronophthisis
- c.906+1G>A Multiple submitters INVS-related disorders
- p.Gln407Ter Multiple submitters INVS-related disorder
- p.Gln796fs Multiple submitters nephronophthisis 2
- c.1234+2T>A Single submitter nephronophthisis
- c.1234+2T>G Single submitter nephronophthisis
- c.1464+1G>A Single submitter nephronophthisis
- c.1572-1G>A Single submitter nephronophthisis 2
- c.1773_1784+2dup Single submitter nephronophthisis 2
- c.273+1G>A Single submitter nephronophthisis
- c.274-2A>G Single submitter nephronophthisis
- c.448-2A>G Single submitter nephronophthisis
- c.616-1G>A Single submitter INVS-related disorders
- c.907-1G>A Single submitter nephronophthisis
- p.Arg60Ter Single submitter nephronophthisis 2
- p.Arg914fs Single submitter
- p.Asn917fs Single submitter INVS-related disorders
- p.Asp45fs Single submitter nephronophthisis 2
- p.Gln1035fs Single submitter nephronophthisis
- p.Gln791Ter Single submitter nephronophthisis 2
- p.Glu607Ter Single submitter INVS-related disorders
- p.Gly534_Glu535insTer Single submitter nephronophthisis 2
- p.His260Tyr Single submitter nephronophthisis 2
- p.Ile348fs Single submitter nephronophthisis 2
- p.Leu134fs Single submitter nephronophthisis 2
- p.Leu549fs Single submitter INVS-related disorders
- p.Leu884fs Single submitter INVS-related disorders
- p.Lys1021fs Single submitter nephronophthisis 2
- p.Lys403Ter Single submitter nephronophthisis 2
- p.Lys984fs Single submitter nephronophthisis 2
- p.Pro482fs Single submitter nephronophthisis 2
- p.Tyr468Ter Single submitter nephronophthisis 2
- p.Gln81Ter No assertion criteria nephronophthisis 2
Conflicting classifications of pathogenicity 57
- c.1079-7C>T Single submitter nephronophthisis
- c.1784+8T>C Single submitter nephronophthisis
- c.3016+5C>T Single submitter nephronophthisis
- c.447+13C>G Single submitter nephronophthisis
- c.448-11C>T Single submitter nephronophthisis 2
- c.796+4C>T Single submitter nephronophthisis
- c.796+5G>A Single submitter nephronophthisis 2
- c.907-13dup Single submitter nephronophthisis
- c.-17C>T Single submitter nephronophthisis 2
- c.*5C>T Single submitter nephronophthisis 2
- p.Ala66= Single submitter nephronophthisis
- p.Ala818= Single submitter nephronophthisis
- p.Ala818Val Single submitter nephronophthisis ⚠
- p.Ala920= Single submitter nephronophthisis
- p.Arg123Trp Single submitter nephronophthisis
- p.Arg524= Single submitter Inborn genetic diseases
- p.Arg686Gly Single submitter nephronophthisis ⚠
- p.Arg734Gln Single submitter nephronophthisis ⚠
- p.Arg779= Single submitter nephronophthisis
- p.Arg925= Single submitter nephronophthisis
- p.Arg940Gln Single submitter nephronophthisis ⚠
- p.Asn1033= Single submitter nephronophthisis
- p.Asn1061fs Single submitter nephronophthisis 2
- p.Asn648Ser Single submitter nephronophthisis ⚠
- p.Asn708Ser Single submitter nephronophthisis ⚠
- p.Asp657Glu Single submitter nephronophthisis ⚠
- p.Asp771= Single submitter nephronophthisis
- p.Asp771Asn Single submitter nephronophthisis ⚠
- p.Cys55= Single submitter nephronophthisis 2
- p.Gln796Glu Single submitter nephronophthisis 2 ⚠
- p.Gly11= Single submitter nephronophthisis
- p.Gly568= Single submitter nephronophthisis
- p.His1009= Single submitter kidney disorder
- p.His369= Single submitter nephronophthisis
- p.His770= Single submitter nephronophthisis
- p.His780Gln Single submitter nephronophthisis ⚠
- p.His935Tyr Single submitter nephronophthisis ⚠
- p.Leu112= Single submitter nephronophthisis
- p.Leu167= Single submitter nephronophthisis
- p.Leu40Val Single submitter nephronophthisis ⚠
- p.Leu528= Single submitter nephronophthisis 2
- p.Leu670Pro Single submitter nephronophthisis 2 ⚠
- p.Lys374= Single submitter nephronophthisis
- p.Lys596Arg Single submitter nephronophthisis ⚠
- p.Lys642Arg Single submitter nephronophthisis ⚠
- p.Lys839= Single submitter nephronophthisis
- p.Pro662= Single submitter nephronophthisis
- p.Ser371Gly Single submitter Inborn genetic diseases ⚠
- p.Ser38= Single submitter nephronophthisis
- p.Ser760Ala Single submitter Inborn genetic diseases ⚠
- p.Ser888= Single submitter nephronophthisis
- p.Thr1017= Single submitter nephronophthisis 2
- p.Thr458= Single submitter nephronophthisis
- p.Tyr219= Single submitter nephronophthisis
- p.Val23Ile Single submitter nephronophthisis 2 ⚠
- p.Val649Met Single submitter nephronophthisis 2 ⚠
- p.Val742Met Single submitter nephronophthisis ⚠
Benign 26
- c.2068+31G>A Multiple submitters
- c.274-110G>A Multiple submitters
- c.274-15_274-14del Multiple submitters nephronophthisis
- c.2787-23C>G Multiple submitters
- c.3016+48A>G Multiple submitters
- c.3091+94T>G Multiple submitters
- c.-110T>G Multiple submitters nephronophthisis
- c.1235-171C>T Single submitter
- c.1464+290del Single submitter
- c.1465-188del Single submitter
- c.1571+237G>A Single submitter
- c.1571+32del Single submitter
- c.2068+286T>C Single submitter
- c.273+13del Single submitter nephronophthisis
- c.274-153_274-152insTCTCA Single submitter
- c.274-304del Single submitter
- c.274-308_274-307insG Single submitter
- c.274-316A>T Single submitter
- c.2786+14del Single submitter nephronophthisis
- c.2787-268C>T Single submitter
- c.615+221C>T Single submitter
- c.615+227C>T Single submitter
- c.615+292A>G Single submitter
- c.616-273C>T Single submitter
- c.797-306T>C Single submitter
- c.*297A>G Single submitter nephronophthisis 2
Benign/Likely benign 17
- c.1235-5T>C Multiple submitters nephronophthisis
- c.1571+32dup Multiple submitters
- c.2069-18_2069-16del Multiple submitters nephronophthisis
- c.273+46C>T Multiple submitters
- c.3017-5T>G Multiple submitters nephronophthisis 2
- c.448-10G>A Multiple submitters nephronophthisis
- c.616-19T>C Multiple submitters nephronophthisis 2
- p.Ala650Pro Multiple submitters kidney disorder
- p.Arg706Gly Multiple submitters nephronophthisis
- p.Arg861Thr Multiple submitters nephronophthisis
- p.Asn247Ser Multiple submitters nephronophthisis
- p.Gly660= Multiple submitters nephronophthisis
- p.Gly801Glu Multiple submitters kidney disorder
- p.His428= Multiple submitters kidney disorder
- p.Ile34= Multiple submitters nephronophthisis
- p.Ser242Leu Multiple submitters nephronophthisis
- p.Val305Ile Multiple submitters nephronophthisis ⚠
Likely benign 391
Showing the top 300 by review status; the full set is in the sitemap.
- c.1078+18C>T Multiple submitters nephronophthisis
- c.1079-13G>C Multiple submitters nephronophthisis
- c.1234+18C>T Multiple submitters nephronophthisis
- c.1465-15T>G Multiple submitters nephronophthisis 2
- c.1465-8G>A Multiple submitters nephronophthisis
- c.1784+8T>G Multiple submitters nephronophthisis
- c.1785-20T>G Multiple submitters nephronophthisis
- c.273+16T>C Multiple submitters nephronophthisis
- c.274-14T>G Multiple submitters nephronophthisis
- c.3016+15G>A Multiple submitters nephronophthisis
- c.447+9T>C Multiple submitters nephronophthisis
- c.448-19G>T Multiple submitters nephronophthisis 2
- c.796+19C>T Multiple submitters nephronophthisis
- c.796+20A>G Multiple submitters nephronophthisis
- p.Ala353= Multiple submitters nephronophthisis
- p.Ala789= Multiple submitters nephronophthisis
- p.Arg32= Multiple submitters nephronophthisis
- p.Arg749= Multiple submitters nephronophthisis
- p.Asn520= Multiple submitters nephronophthisis
- p.Asn648= Multiple submitters nephronophthisis
- p.Gly289= Multiple submitters nephronophthisis
- p.His154= Multiple submitters nephronophthisis
- p.His424= Multiple submitters nephronophthisis
- p.His494= Multiple submitters nephronophthisis
- p.His546= Multiple submitters nephronophthisis 2
- p.Ile283= Multiple submitters nephronophthisis 2
- p.Ile551= Multiple submitters nephronophthisis
- p.Ile557= Multiple submitters nephronophthisis 2
- p.Leu273= Multiple submitters nephronophthisis
- p.Leu30= Multiple submitters nephronophthisis
- p.Leu342= Multiple submitters nephronophthisis
- p.Leu798= Multiple submitters nephronophthisis
- p.Leu969= Multiple submitters nephronophthisis
- p.Lys570= Multiple submitters nephronophthisis
- p.Pro162= Multiple submitters nephronophthisis
- p.Pro769= Multiple submitters nephronophthisis 2
- p.Pro805= Multiple submitters nephronophthisis
- p.Pro881= Multiple submitters nephronophthisis
- p.Pro895= Multiple submitters Inborn genetic diseases
- p.Pro983= Multiple submitters nephronophthisis
- p.Thr122= Multiple submitters nephronophthisis
- p.Thr324= Multiple submitters nephronophthisis
- p.Thr372= Multiple submitters nephronophthisis
- p.Tyr1051= Multiple submitters nephronophthisis
- c.106+14_106+15insAC Single submitter nephronophthisis
- c.106+15T>G Single submitter nephronophthisis
- c.106+17A>T Single submitter nephronophthisis
- c.106+18G>A Single submitter nephronophthisis
- c.106+19dup Single submitter nephronophthisis
- c.106+20A>G Single submitter nephronophthisis
- c.106+7A>G Single submitter nephronophthisis
- c.107-17G>A Single submitter nephronophthisis
- c.107-9T>A Single submitter nephronophthisis
- c.107-9T>C Single submitter nephronophthisis
- c.1078+10G>T Single submitter nephronophthisis
- c.1078+11G>A Single submitter nephronophthisis
- c.1078+15A>G Single submitter nephronophthisis
- c.1078+19A>G Single submitter nephronophthisis
- c.1078+242C>T Single submitter
- c.1078+3GA[3] Single submitter nephronophthisis
- c.1078+6_1078+9dup Single submitter nephronophthisis
- c.1078+9T>C Single submitter nephronophthisis
- c.1079-10T>A Single submitter nephronophthisis
- c.1079-12G>T Single submitter nephronophthisis
- c.1079-13G>T Single submitter nephronophthisis
- c.1079-6T>C Single submitter nephronophthisis
- c.1234+13G>A Single submitter nephronophthisis
- c.1234+15G>A Single submitter nephronophthisis
- c.1234+15G>C Single submitter nephronophthisis
- c.1234+17A>T Single submitter nephronophthisis
- c.1234+19T>C Single submitter nephronophthisis
- c.1234+27A>C Single submitter
- c.1234+7T>C Single submitter nephronophthisis
- c.1235-10G>A Single submitter nephronophthisis
- c.1235-12G>A Single submitter nephronophthisis
- c.1235-18A>G Single submitter nephronophthisis
- c.1235-19_1235-17del Single submitter nephronophthisis
- c.1235-4C>G Single submitter nephronophthisis
- c.1464+12G>A Single submitter nephronophthisis
- c.1464+289_1464+290del Single submitter
- c.1465-14G>A Single submitter nephronophthisis
- c.1465-19T>C Single submitter nephronophthisis
- c.1571+11G>T Single submitter nephronophthisis
- c.1571+15A>G Single submitter nephronophthisis
- c.1571+17T>A Single submitter nephronophthisis
- c.1571+30_1571+32del Single submitter
- c.1571+31_1571+32dup Single submitter
- c.1571+9_1571+10insG Single submitter nephronophthisis
- c.1572-12C>T Single submitter nephronophthisis
- c.1572-16C>A Single submitter nephronophthisis
- c.1784+10A>G Single submitter nephronophthisis
- c.1784+15C>T Single submitter nephronophthisis
- c.1784+16G>A Single submitter nephronophthisis
- c.1784+19G>A Single submitter nephronophthisis
- c.1784+7A>T Single submitter nephronophthisis
- c.1784+9G>A Single submitter nephronophthisis
- c.1785-13G>C Single submitter
- c.1785-18C>G Single submitter nephronophthisis
- c.1785-20T>C Single submitter nephronophthisis
- c.2068+10T>C Single submitter nephronophthisis
- c.2068+11T>C Single submitter nephronophthisis
- c.2068+14C>T Single submitter nephronophthisis
- c.2068+19T>A Single submitter nephronophthisis
- c.2068+7G>A Single submitter nephronophthisis
- c.2068+7G>T Single submitter nephronophthisis
- c.2069-11G>A Single submitter nephronophthisis
- c.2069-11G>C Single submitter nephronophthisis
- c.2069-18T>C Single submitter nephronophthisis
- c.2069-278C>A Single submitter
- c.2069-8del Single submitter nephronophthisis
- c.273+15T>A Single submitter nephronophthisis
- c.274-13_274-9del Single submitter nephronophthisis
- c.274-14T>C Single submitter nephronophthisis
- c.274-15T>A Single submitter nephronophthisis
- c.274-16_274-15del Single submitter nephronophthisis
- c.274-16C>T Single submitter nephronophthisis
- c.274-20_274-16del Single submitter nephronophthisis
- c.2786+10T>C Single submitter nephronophthisis
- c.2786+14G>A Single submitter nephronophthisis
- c.2786+18T>C Single submitter nephronophthisis
- c.2787-17_2787-16del Single submitter nephronophthisis
- c.2787-19T>C Single submitter nephronophthisis
- c.2787-4C>T Single submitter nephronophthisis
- c.2787-8C>T Single submitter nephronophthisis
- c.3016+13C>A Single submitter nephronophthisis
- c.3017-11del Single submitter nephronophthisis
- c.3017-17T>G Single submitter nephronophthisis
- c.3017-18del Single submitter nephronophthisis
- c.3017-19A>C Single submitter nephronophthisis
- c.3017-20_3017-19del Single submitter nephronophthisis
- c.3091+10C>G Single submitter nephronophthisis
- c.3091+14T>C Single submitter nephronophthisis
- c.3091+7C>T Single submitter nephronophthisis
- c.3092-11del Single submitter nephronophthisis
- c.3092-17del Single submitter nephronophthisis
- c.3092-17G>T Single submitter nephronophthisis
- c.3092-19T>G Single submitter nephronophthisis
- c.3092-7T>C Single submitter
- c.447+17A>C Single submitter nephronophthisis
- c.447+18T>C Single submitter nephronophthisis
- c.447+8A>C Single submitter nephronophthisis
- c.448-12T>C Single submitter nephronophthisis
- c.615+10A>G Single submitter nephronophthisis
- c.615+12G>C Single submitter nephronophthisis
- c.615+13G>T Single submitter
- c.615+16C>A Single submitter nephronophthisis
- c.616-11C>T Single submitter nephronophthisis
- c.616-15G>A Single submitter nephronophthisis
- c.616-9T>C Single submitter nephronophthisis
- c.796+11C>T Single submitter nephronophthisis
- c.796+15G>A Single submitter nephronophthisis
- c.796+17A>C Single submitter nephronophthisis
- c.796+8A>G Single submitter nephronophthisis
- c.797-14G>A Single submitter nephronophthisis
- c.797-16T>C Single submitter nephronophthisis
- c.797-4T>C Single submitter nephronophthisis
- c.797-5C>G Single submitter nephronophthisis
- c.797-6T>C Single submitter nephronophthisis
- c.797-9T>A Single submitter nephronophthisis
- c.906+12A>G Single submitter nephronophthisis
- c.906+14del Single submitter nephronophthisis
- c.906+14G>A Single submitter nephronophthisis
- c.906+16C>T Single submitter nephronophthisis
- c.906+18A>G Single submitter nephronophthisis
- c.906+20G>C Single submitter nephronophthisis
- c.907-11T>C Single submitter nephronophthisis
- c.907-19A>T Single submitter nephronophthisis
- c.907-4A>C Single submitter nephronophthisis
- c.907-7C>G Single submitter nephronophthisis
- c.-155C>T Single submitter nephronophthisis 2
- p.Ala20= Single submitter nephronophthisis
- p.Ala207= Single submitter nephronophthisis
- p.Ala22= Single submitter nephronophthisis
- p.Ala330= Single submitter nephronophthisis
- p.Ala436= Single submitter nephronophthisis
- p.Ala464= Single submitter nephronophthisis
- p.Ala480= Single submitter nephronophthisis
- p.Ala512= Single submitter nephronophthisis
- p.Ala553= Single submitter nephronophthisis
- p.Ala558= Single submitter nephronophthisis
- p.Ala606= Single submitter nephronophthisis
- p.Ala650= Single submitter nephronophthisis
- p.Ala736= Single submitter nephronophthisis
- p.Ala806= Single submitter nephronophthisis
- p.Ala821= Single submitter nephronophthisis
- p.Ala838= Single submitter nephronophthisis
- p.Ala859= Single submitter nephronophthisis
- p.Ala919= Single submitter nephronophthisis
- p.Ala926= Single submitter nephronophthisis
- p.Ala959= Single submitter nephronophthisis
- p.Arg1018= Single submitter nephronophthisis
- p.Arg103= Single submitter nephronophthisis
- p.Arg123= Single submitter nephronophthisis
- p.Arg256= Single submitter nephronophthisis
- p.Arg536= Single submitter nephronophthisis
- p.Arg589= Single submitter nephronophthisis
- p.Arg60= Single submitter
- p.Arg612= Single submitter nephronophthisis
- p.Arg613= Single submitter nephronophthisis
- p.Arg734= Single submitter nephronophthisis
- p.Arg761= Single submitter nephronophthisis
- p.Arg762= Single submitter nephronophthisis
- p.Arg778= Single submitter nephronophthisis
- p.Arg815= Single submitter nephronophthisis
- p.Arg856= Single submitter
- p.Arg899= Single submitter nephronophthisis
- p.Arg907= Single submitter nephronophthisis
- p.Arg909= Single submitter nephronophthisis
- p.Arg928= Single submitter nephronophthisis
- p.Arg933= Single submitter nephronophthisis
- p.Arg966= Single submitter nephronophthisis
- p.Asn148= Single submitter nephronophthisis
- p.Asn174= Single submitter nephronophthisis
- p.Asn300= Single submitter nephronophthisis
- p.Asn380= Single submitter nephronophthisis
- p.Asn448= Single submitter nephronophthisis
- p.Asn498= Single submitter nephronophthisis
- p.Asn499= Single submitter nephronophthisis
- p.Asp335= Single submitter nephronophthisis
- p.Asp347= Single submitter nephronophthisis
- p.Asp422= Single submitter nephronophthisis
- p.Asp577= Single submitter nephronophthisis
- p.Asp591= Single submitter nephronophthisis
- p.Asp62= Single submitter nephronophthisis
- p.Asp78= Single submitter nephronophthisis
- p.Asp892= Single submitter nephronophthisis
- p.Asp949= Single submitter nephronophthisis
- p.Cys439= Single submitter nephronophthisis
- p.Cys471= Single submitter nephronophthisis
- p.Cys618= Single submitter nephronophthisis
- p.Gln1003= Single submitter nephronophthisis
- p.Gln288= Single submitter nephronophthisis
- p.Gln452= Single submitter nephronophthisis
- p.Gln608= Single submitter
- p.Gln636= Single submitter nephronophthisis
- p.Glu44= Single submitter nephronophthisis
- p.Glu586= Single submitter nephronophthisis
- p.Glu599= Single submitter nephronophthisis
- p.Glu607= Single submitter nephronophthisis
- p.Glu869= Single submitter nephronophthisis
- p.Glu956= Single submitter nephronophthisis
- p.Gly1011= Single submitter nephronophthisis
- p.Gly182= Single submitter nephronophthisis
- p.Gly221= Single submitter nephronophthisis
- p.Gly266= Single submitter nephronophthisis
- p.Gly368= Single submitter nephronophthisis
- p.Gly423= Single submitter nephronophthisis
- p.Gly467= Single submitter nephronophthisis
- p.Gly547= Single submitter nephronophthisis
- p.Gly611= Single submitter nephronophthisis
- p.Gly647= Single submitter nephronophthisis
- p.Gly664= Single submitter nephronophthisis
- p.Gly667= Single submitter nephronophthisis
- p.Gly682= Single submitter nephronophthisis
- p.Gly731= Single submitter nephronophthisis
- p.Gly812= Single submitter nephronophthisis
- p.Gly822= Single submitter nephronophthisis
- p.Gly886= Single submitter nephronophthisis
- p.Gly92= Single submitter nephronophthisis
- p.Gly948= Single submitter nephronophthisis
- p.Gly989= Single submitter nephronophthisis
- p.His119= Single submitter nephronophthisis
- p.His124= Single submitter nephronophthisis
- p.His171= Single submitter nephronophthisis
- p.His199= Single submitter nephronophthisis
- p.His294= Single submitter nephronophthisis
- p.His820= Single submitter nephronophthisis
- p.His941= Single submitter nephronophthisis
- p.Ile175= Single submitter nephronophthisis
- p.Ile469= Single submitter nephronophthisis
- p.Ile923= Single submitter nephronophthisis
- p.Leu1034= Single submitter nephronophthisis
- p.Leu1053= Single submitter nephronophthisis
- p.Leu120= Single submitter nephronophthisis
- p.Leu133= Single submitter nephronophthisis
- p.Leu134= Single submitter nephronophthisis
- p.Leu153= Single submitter nephronophthisis
- p.Leu214= Single submitter nephronophthisis
- p.Leu259= Single submitter nephronophthisis
- p.Leu274= Single submitter nephronophthisis
- p.Leu320= Single submitter nephronophthisis
- p.Leu33= Single submitter nephronophthisis
- p.Leu377= Single submitter
- p.Leu418= Single submitter nephronophthisis
- p.Leu460= Single submitter nephronophthisis
- p.Leu502= Single submitter nephronophthisis
- p.Leu533= Single submitter nephronophthisis
- p.Leu544= Single submitter nephronophthisis
- p.Leu666= Single submitter nephronophthisis
- p.Leu666Pro Single submitter Inborn genetic diseases
- p.Leu670= Single submitter nephronophthisis
- p.Leu844= Single submitter nephronophthisis
- p.Leu848= Single submitter nephronophthisis
- p.Leu855= Single submitter nephronophthisis
- p.Leu862= Single submitter nephronophthisis
- p.Leu884= Single submitter nephronophthisis
- p.Leu900= Single submitter
- p.Leu936= Single submitter nephronophthisis
- p.Leu960= Single submitter nephronophthisis
- p.Leu99= Single submitter nephronophthisis
Uncertain significance 492
Showing the top 300 by review status; the full set is in the sitemap.
- c.1785-14G>A Multiple submitters nephronophthisis 2
- c.273+3G>A Multiple submitters nephronophthisis
- c.907-3C>T Multiple submitters nephronophthisis
- p.Ala157Thr Multiple submitters nephronophthisis ⚠
- p.Ala197Gly Multiple submitters nephronophthisis ⚠
- p.Ala297Val Multiple submitters nephronophthisis 2 ⚠
- p.Ala329Ser Multiple submitters nephronophthisis ⚠
- p.Ala552Thr Multiple submitters nephronophthisis ⚠
- p.Ala558Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala559Thr Multiple submitters nephronophthisis ⚠
- p.Ala592Pro Multiple submitters nephronophthisis ⚠
- p.Ala66Val Multiple submitters nephronophthisis 2 ⚠
- p.Ala730Val Multiple submitters nephronophthisis ⚠
- p.Ala806Val Multiple submitters nephronophthisis 2 ⚠
- p.Ala814Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala926Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg1027Cys Multiple submitters nephronophthisis 2 ⚠
- p.Arg1027His Multiple submitters nephronophthisis ⚠
- p.Arg103Cys Multiple submitters nephronophthisis 2
- p.Arg123Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg339Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg536Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg536His Multiple submitters Inborn genetic diseases ⚠
- p.Arg576Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg597Gln Multiple submitters nephronophthisis ⚠
- p.Arg603Gln Multiple submitters nephronophthisis ⚠
- p.Arg60Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg613Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg635Gly Multiple submitters nephronophthisis ⚠
- p.Arg638Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg638Trp Multiple submitters ⚠
- p.Arg659Lys Multiple submitters nephronophthisis 2 ⚠
- p.Arg715Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg734Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg762Gln Multiple submitters nephronophthisis ⚠
- p.Arg762Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg779Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg779Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg794Cys Multiple submitters nephronophthisis ⚠
- p.Arg794His Multiple submitters Inborn genetic diseases ⚠
- p.Arg810His Multiple submitters nephronophthisis 2 ⚠
- p.Arg815Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg815Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg829Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg905Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg907Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg914Cys Multiple submitters nephronophthisis ⚠
- p.Arg925His Multiple submitters nephronophthisis ⚠
- p.Arg940Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg95His Multiple submitters nephronophthisis 2
- p.Asn174His Multiple submitters Inborn genetic diseases ⚠
- p.Asn278Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn351His Multiple submitters nephronophthisis
- p.Asn479Ser Multiple submitters nephronophthisis ⚠
- p.Asn499Ser Multiple submitters nephronophthisis ⚠
- p.Asn917Ser Multiple submitters nephronophthisis 2 ⚠
- p.Asp422His Multiple submitters Inborn genetic diseases ⚠
- p.Asp503Gly Multiple submitters nephronophthisis 2 ⚠
- p.Asp679Tyr Multiple submitters nephronophthisis ⚠
- p.Asp732Asn Multiple submitters nephronophthisis 2 ⚠
- p.Asp754Asn Multiple submitters nephronophthisis 2 ⚠
- p.Asp870Glu Multiple submitters nephronophthisis ⚠
- p.Cys1036Arg Multiple submitters nephronophthisis 2 ⚠
- p.Cys497Tyr Multiple submitters nephronophthisis 2 ⚠
- p.Gln1035Glu Multiple submitters nephronophthisis ⚠
- p.Gln145Lys Multiple submitters nephronophthisis ⚠
- p.Gln407Pro Multiple submitters Inborn genetic diseases ⚠
- p.Gln674Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln963Leu Multiple submitters nephronophthisis 2 ⚠
- p.Glu1010Lys Multiple submitters nephronophthisis 2 ⚠
- p.Glu113Lys Multiple submitters nephronophthisis ⚠
- p.Glu220Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu303Lys Multiple submitters nephronophthisis 2 ⚠
- p.Glu477Lys Multiple submitters nephronophthisis ⚠
- p.Glu545Gln Multiple submitters nephronophthisis 2 ⚠
- p.Glu586Asp Multiple submitters nephronophthisis 2 ⚠
- p.Glu605Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu755Lys Multiple submitters nephronophthisis ⚠
- p.Glu758Lys Multiple submitters nephronophthisis ⚠
- p.Glu854Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly333Cys Multiple submitters nephronophthisis ⚠
- p.Gly456Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly489Glu Multiple submitters nephronophthisis ⚠
- p.Gly547Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly547Ser Multiple submitters nephronophthisis ⚠
- p.Gly664Arg Multiple submitters nephronophthisis ⚠
- p.Gly668Arg Multiple submitters nephronophthisis ⚠
- p.Gly718Arg Multiple submitters nephronophthisis ⚠
- p.Gly740Val Multiple submitters nephronophthisis ⚠
- p.Gly816Val Multiple submitters nephronophthisis 2 ⚠
- p.His154Arg Multiple submitters nephronophthisis 2 ⚠
- p.His154Leu Multiple submitters nephronophthisis 2 ⚠
- p.His199Asn Multiple submitters nephronophthisis 2 ⚠
- p.His267Arg Multiple submitters nephronophthisis ⚠
- p.His272Pro Multiple submitters Inborn genetic diseases ⚠
- p.His847Tyr Multiple submitters nephronophthisis 2 ⚠
- p.His941Arg Multiple submitters nephronophthisis ⚠
- p.His941Leu Multiple submitters nephronophthisis 2 ⚠
- p.Ile1013Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile175Thr Multiple submitters nephronophthisis 2 ⚠
- p.Ile554Thr Multiple submitters nephronophthisis 2 ⚠
- p.Ile557Ser Multiple submitters nephronophthisis ⚠
- p.Ile557Val Multiple submitters nephronophthisis 2
- p.Ile891Met Multiple submitters nephronophthisis 2 ⚠
- p.Leu101Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu120Phe Multiple submitters Inborn genetic diseases
- p.Leu167Pro Multiple submitters nephronophthisis 2 ⚠
- p.Leu273Phe Multiple submitters nephronophthisis
- p.Leu40Phe Multiple submitters nephronophthisis ⚠
- p.Leu460Trp Multiple submitters nephronophthisis 2 ⚠
- p.Leu493Ser Multiple submitters nephronophthisis ⚠
- p.Leu532Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu767Phe Multiple submitters nephronophthisis ⚠
- p.Leu840Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu945His Multiple submitters Inborn genetic diseases ⚠
- p.Leu969Val Multiple submitters nephronophthisis ⚠
- p.Lys306Glu Multiple submitters nephronophthisis 2 ⚠
- p.Lys446Gln Multiple submitters nephronophthisis ⚠
- p.Lys487Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys697Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met137Thr Multiple submitters nephronophthisis ⚠
- p.Met53Thr Multiple submitters nephronophthisis 2 ⚠
- p.Phe96Leu Multiple submitters nephronophthisis ⚠
- p.Phe973Leu Multiple submitters nephronophthisis ⚠
- p.Pro1016Leu Multiple submitters nephronophthisis 2 ⚠
- p.Pro1065fs Multiple submitters nephronophthisis
- p.Pro117Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro393Ala Multiple submitters nephronophthisis ⚠
- p.Pro449Ser Multiple submitters nephronophthisis ⚠
- p.Pro515Leu Multiple submitters nephronophthisis ⚠
- p.Pro688Ser Multiple submitters nephronophthisis 2 ⚠
- p.Pro784Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser1023Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser1024Phe Multiple submitters nephronophthisis ⚠
- p.Ser1046dup Multiple submitters nephronophthisis
- p.Ser1050Phe Multiple submitters nephronophthisis ⚠
- p.Ser313Leu Multiple submitters nephronophthisis ⚠
- p.Ser665Cys Multiple submitters nephronophthisis 2 ⚠
- p.Ser665Phe Multiple submitters nephronophthisis ⚠
- p.Ser677Ala Multiple submitters nephronophthisis 2 ⚠
- p.Ser725Pro Multiple submitters nephronophthisis 2 ⚠
- p.Ser80Asn Multiple submitters nephronophthisis ⚠
- p.Ser857Leu Multiple submitters nephronophthisis 2 ⚠
- p.Ser929Gly Multiple submitters nephronophthisis ⚠
- p.Ser995Tyr Multiple submitters nephronophthisis ⚠
- p.Thr122Pro Multiple submitters nephronophthisis ⚠
- p.Thr458Ser Multiple submitters nephronophthisis ⚠
- p.Thr526Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr830Ile Multiple submitters nephronophthisis ⚠
- p.Thr877Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr996Ala Multiple submitters Inborn genetic diseases ⚠
- p.Trp216Gly Multiple submitters nephronophthisis 2 ⚠
- p.Tyr1051fs Multiple submitters nephronophthisis 2
- p.Val236Ala Multiple submitters nephronophthisis 2 ⚠
- p.Val236Met Multiple submitters INVS-related disorder ⚠
- p.Val35Ile Multiple submitters nephronophthisis 2 ⚠
- p.Val373Met Multiple submitters Inborn genetic diseases ⚠
- p.Val703Ile Multiple submitters nephronophthisis ⚠
- p.Val896Ile Multiple submitters nephronophthisis ⚠
- p.Val896Leu Multiple submitters INVS-related disorder ⚠
- p.Val922Leu Multiple submitters Inborn genetic diseases ⚠
- c.106+3A>C Single submitter nephronophthisis
- c.106+6C>T Single submitter nephronophthisis
- c.107-7C>T Single submitter
- c.1234+3G>A Single submitter nephronophthisis 2
- c.1234+4G>C Single submitter nephronophthisis
- c.1465-10del Single submitter nephronophthisis 2
- c.1571+2dup Single submitter nephronophthisis
- c.1571+5G>A Single submitter nephronophthisis
- c.1784+6T>C Single submitter nephronophthisis
- c.273+5G>A Single submitter nephronophthisis
- c.2787-3C>G Single submitter
- c.3091+2dup Single submitter nephronophthisis 2
- c.3092-11_3092-6del Single submitter nephronophthisis
- c.3092-2A>G Single submitter
- c.3092-6del Single submitter
- c.-129C>A Single submitter nephronophthisis 2
- c.-176C>T Single submitter nephronophthisis 2
- c.-178G>A Single submitter nephronophthisis 2
- c.*158T>C Single submitter nephronophthisis 2
- c.*323A>T Single submitter nephronophthisis 2
- c.*352A>T Single submitter nephronophthisis 2
- c.*415A>G Single submitter nephronophthisis 2
- c.*45G>A Single submitter nephronophthisis 2
- c.*467A>T Single submitter nephronophthisis 2
- c.*469A>T Single submitter nephronophthisis 2
- c.*73T>A Single submitter nephronophthisis 2
- c.*98A>G Single submitter nephronophthisis 2
- p.Ala297Thr Single submitter nephronophthisis 2 ⚠
- p.Ala329Glu Single submitter nephronophthisis ⚠
- p.Ala329Val Single submitter nephronophthisis ⚠
- p.Ala330Asp Single submitter Inborn genetic diseases ⚠
- p.Ala363Gly Single submitter Inborn genetic diseases ⚠
- p.Ala397Thr Single submitter nephronophthisis ⚠
- p.Ala463Thr Single submitter nephronophthisis ⚠
- p.Ala513Thr Single submitter Inborn genetic diseases ⚠
- p.Ala552Val Single submitter nephronophthisis 2 ⚠
- p.Ala553delinsTyrLysThrSer Single submitter
- p.Ala58Pro Single submitter Inborn genetic diseases ⚠
- p.Ala622Val Single submitter nephronophthisis ⚠
- p.Ala639Asp Single submitter nephronophthisis 2 ⚠
- p.Ala66Thr Single submitter Inborn genetic diseases ⚠
- p.Ala701Gly Single submitter nephronophthisis ⚠
- p.Ala736Val Single submitter nephronophthisis 2 ⚠
- p.Ala838Pro Single submitter Inborn genetic diseases ⚠
- p.Ala859Gly Single submitter nephronophthisis ⚠
- p.Ala859Val Single submitter ⚠
- p.Ala89Val Single submitter ⚠
- p.Ala978Val Single submitter ⚠
- p.Arg1018Ile Single submitter Inborn genetic diseases ⚠
- p.Arg103Leu Single submitter Inborn genetic diseases ⚠
- p.Arg222Gln Single submitter nephronophthisis 2 ⚠
- p.Arg256Gln Single submitter nephronophthisis 2 ⚠
- p.Arg277Lys Single submitter ⚠
- p.Arg32Gly Single submitter Inborn genetic diseases ⚠
- p.Arg339Lys Single submitter nephronophthisis ⚠
- p.Arg597Leu Single submitter nephronophthisis ⚠
- p.Arg613Gln Single submitter inherited retinal dystrophy ⚠
- p.Arg613Pro Single submitter ⚠
- p.Arg656Lys Single submitter Inborn genetic diseases ⚠
- p.Arg659Gly Single submitter nephronophthisis 2 ⚠
- p.Arg778Ser Single submitter nephronophthisis ⚠
- p.Arg810Cys Single submitter nephronophthisis ⚠
- p.Arg832Lys Single submitter ⚠
- p.Arg861Ser Single submitter Inborn genetic diseases ⚠
- p.Arg899Gln Single submitter nephronophthisis ⚠
- p.Arg907Leu Single submitter nephronophthisis ⚠
- p.Arg908Gly Single submitter nephronophthisis ⚠
- p.Arg925Cys Single submitter ⚠
- p.Arg928Gln Single submitter nephronophthisis ⚠
- p.Arg940Gly Single submitter nephronophthisis ⚠
- p.Arg954Lys Single submitter nephronophthisis ⚠
- p.Arg95Cys Single submitter nephronophthisis ⚠
- p.Asn1029Asp Single submitter nephronophthisis ⚠
- p.Asn1042Lys Single submitter ⚠
- p.Asn1061Thr Single submitter nephronophthisis ⚠
- p.Asn191Ser Single submitter nephronophthisis ⚠
- p.Asn191Thr Single submitter nephronophthisis 2 ⚠
- p.Asn215Lys Single submitter Inborn genetic diseases ⚠
- p.Asn24Ser Single submitter Inborn genetic diseases ⚠
- p.Asn278Asp Single submitter nephronophthisis ⚠
- p.Asn278Tyr Single submitter nephronophthisis ⚠
- p.Asn2Lys Single submitter nephronophthisis ⚠
- p.Asn379Asp Single submitter nephronophthisis ⚠
- p.Asn445Ser Single submitter Inborn genetic diseases ⚠
- p.Asn448Asp Single submitter nephronophthisis ⚠
- p.Asn498Tyr Single submitter nephronophthisis ⚠
- p.Asn516Lys Single submitter nephronophthisis ⚠
- p.Asn516Ser Single submitter nephronophthisis ⚠
- p.Asn520Ser Single submitter Inborn genetic diseases ⚠
- p.Asn521His Single submitter nephronophthisis
- p.Asn689His Single submitter nephronophthisis ⚠
- p.Asn833His Single submitter nephronophthisis 2 ⚠
- p.Asn890Ser Single submitter ⚠
- p.Asp172Gly Single submitter nephronophthisis ⚠
- p.Asp179Val Single submitter nephronophthisis ⚠
- p.Asp194Glu Single submitter nephronophthisis ⚠
- p.Asp231Val Single submitter Inborn genetic diseases ⚠
- p.Asp238Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp316Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp335Glu Single submitter Inborn genetic diseases ⚠
- p.Asp336Asn Single submitter nephronophthisis ⚠
- p.Asp336Tyr Single submitter ⚠
- p.Asp349Gly Single submitter Inborn genetic diseases ⚠
- p.Asp417Val Single submitter Inborn genetic diseases ⚠
- p.Asp420Asn Single submitter Inborn genetic diseases ⚠
- p.Asp437Glu Single submitter Inborn genetic diseases ⚠
- p.Asp503Val Single submitter nephronophthisis ⚠
- p.Asp556Ala Single submitter nephronophthisis ⚠
- p.Asp657Asn Single submitter nephronophthisis 2 ⚠
- p.Asp65Asn Single submitter Inborn genetic diseases ⚠
- p.Asp65Gly Single submitter nephronophthisis ⚠
- p.Asp73Glu Single submitter Inborn genetic diseases ⚠
- p.Asp78Asn Single submitter nephronophthisis 2 ⚠
- p.Asp892His Single submitter ⚠
- p.Asp951Asn Single submitter nephronophthisis ⚠
- p.Cys1007del Single submitter nephronophthisis
- p.Cys246Phe Single submitter Inborn genetic diseases ⚠
- p.Cys439Gly Single submitter nephronophthisis ⚠
- p.Cys735Tyr Single submitter nephronophthisis ⚠
- p.Cys747Tyr Single submitter nephronophthisis ⚠
- p.Cys803Ser Single submitter nephronophthisis 2 ⚠
- p.Gln217Arg Single submitter Inborn genetic diseases ⚠
- p.Gln31Arg Single submitter nephronophthisis ⚠
- p.Gln421Leu Single submitter Inborn genetic diseases ⚠
- p.Gln452Pro Single submitter nephronophthisis ⚠
- p.Gln563Arg Single submitter ⚠
- p.Gln671Arg Single submitter Inborn genetic diseases ⚠
- p.Gln744His Single submitter nephronophthisis ⚠
- p.Gln823Arg Single submitter nephronophthisis ⚠
- p.Gln850His Single submitter nephronophthisis 2 ⚠
- p.Gln90Arg Single submitter nephronophthisis
- p.Gln924His Single submitter nephronophthisis ⚠
- p.Gln931Glu Single submitter Inborn genetic diseases ⚠
- p.Glu114Asp Single submitter nephronophthisis ⚠
- p.Glu163Gln Single submitter nephronophthisis ⚠
- p.Glu321Gly Single submitter nephronophthisis 2 ⚠
- p.Glu399Asp Single submitter ⚠
- p.Glu44Ala Single submitter ⚠
- p.Glu535Gly Single submitter nephronophthisis ⚠