CA4 — 342 ClinVar variants
All ClinVar germline CA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 171 flagged for review →
4 Pathogenic · 10 Likely pathogenic · 17 Conflicting · 11 Benign · 8 Benign/Likely benign · 110 Likely benign · 182 Uncertain significance
Full CA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 171
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 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CA4 p.Arg14Trp
Conflicting
Single submitter
retinitis pigmentosa
-
CA4 p.Arg69His
Conflicting
Single submitter
inherited retinal dystrophy
-
CA4 p.Gln254Pro
Conflicting
Single submitter
retinitis pigmentosa
- CA4 p.Glu178Lys Conflicting Single submitter
-
CA4 p.Lys267Arg
Conflicting
Single submitter
inherited retinal dystrophy
-
CA4 p.Met139Leu
Conflicting
Single submitter
retinitis pigmentosa
-
CA4 p.Thr263Ala
Conflicting
Single submitter
inherited retinal dystrophy
Predictors lean, ClinVar uncertain 103
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CA4 p.Ala156Val Uncertain significance Multiple submitters
- CA4 p.Ala308Ser Uncertain significance Multiple submitters
- CA4 p.Arg50His Uncertain significance Multiple submitters
- CA4 p.Arg50Ser Uncertain significance Multiple submitters
- CA4 p.Asp131Asn Uncertain significance Multiple submitters
- CA4 p.Asp259Asn Uncertain significance Multiple submitters
-
CA4 p.Asp268Asn
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- CA4 p.Asp76Asn Uncertain significance Multiple submitters
- CA4 p.Glu160Asp Uncertain significance Multiple submitters
- CA4 p.Gly222Asp Uncertain significance Multiple submitters
- CA4 p.Gly285Arg Uncertain significance Multiple submitters
- CA4 p.Gly288Ser Uncertain significance Multiple submitters
-
CA4 p.Gly87Glu
Uncertain significance
Multiple submitters
retinitis pigmentosa 17
- CA4 p.Ile141Thr Uncertain significance Multiple submitters
-
CA4 p.Ile54Met
Uncertain significance
Multiple submitters
retinitis pigmentosa
- CA4 p.Leu221Arg Uncertain significance Multiple submitters
-
CA4 p.Lys192Arg
Uncertain significance
Multiple submitters
retinitis pigmentosa
- CA4 p.Met137Ile Uncertain significance Multiple submitters
- CA4 p.Phe70Cys Uncertain significance Multiple submitters
-
CA4 p.Phe70Leu
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
CA4 p.Pro227Leu
Uncertain significance
Multiple submitters
retinitis pigmentosa 17
- CA4 p.Val233Leu Uncertain significance Multiple submitters
- CA4 p.Val57Ile Uncertain significance Multiple submitters
- CA4 p.Ala19Thr Uncertain significance Single submitter
- CA4 p.Ala294Thr Uncertain significance Single submitter
- CA4 p.Ala6Val Uncertain significance Single submitter
- CA4 p.Ala98Thr Uncertain significance Single submitter
- CA4 p.Arg271Ser Uncertain significance Single submitter
- CA4 p.Arg279Cys Uncertain significance Single submitter
- CA4 p.Arg279His Uncertain significance Single submitter
- CA4 p.Arg279Leu Uncertain significance Single submitter
- CA4 p.Arg279Pro Uncertain significance Single submitter
- CA4 p.Arg312Gln Uncertain significance Single submitter
- CA4 p.Arg50Pro Uncertain significance Single submitter
- CA4 p.Arg69Ser Uncertain significance Single submitter
- CA4 p.Asn269Ile Uncertain significance Single submitter
- CA4 p.Asn85Thr Uncertain significance Single submitter
- CA4 p.Asp120Asn Uncertain significance Single submitter
- CA4 p.Asp131Tyr Uncertain significance Single submitter
- CA4 p.Asp230Asn Uncertain significance Single submitter
- CA4 p.Cys24Tyr Uncertain significance Single submitter
- CA4 p.Cys305Ser Uncertain significance Single submitter
- CA4 p.Cys36Phe Uncertain significance Single submitter
- CA4 p.Cys46Gly Uncertain significance Single submitter
- CA4 p.Gln262Glu Uncertain significance Single submitter
- CA4 p.Gln262His Uncertain significance Single submitter
- CA4 p.Gln278Arg Uncertain significance Single submitter
- CA4 p.Glu146Lys Uncertain significance Single submitter
- CA4 p.Glu162Lys Uncertain significance Single submitter
- CA4 p.Glu171Lys Uncertain significance Single submitter
- CA4 p.Glu20Ala Uncertain significance Single submitter
- CA4 p.Glu261Lys Uncertain significance Single submitter
- CA4 p.Glu26Lys Uncertain significance Single submitter
- CA4 p.Glu30Lys Uncertain significance Single submitter
- CA4 p.Gly125Val Uncertain significance Single submitter
- CA4 p.Gly222Ala Uncertain significance Single submitter
- CA4 p.Gly309Ser Uncertain significance Single submitter
- CA4 p.Gly44Glu Uncertain significance Single submitter
-
CA4 p.Gly68Glu
Uncertain significance
Single submitter
inherited retinal dystrophy
- CA4 p.Gly87Arg Uncertain significance Single submitter
- CA4 p.His117Arg Uncertain significance Single submitter
- CA4 p.His117Tyr Uncertain significance Single submitter
- CA4 p.His134Asn Uncertain significance Single submitter
- CA4 p.His245Gln Uncertain significance Single submitter
- CA4 p.His88Leu Uncertain significance Single submitter
- CA4 p.Ile141Val Uncertain significance Single submitter
- CA4 p.Ile242Thr Uncertain significance Single submitter
- CA4 p.Ile242Val Uncertain significance Single submitter
- CA4 p.Ile282Met Uncertain significance Single submitter
- CA4 p.Leu116Gln Uncertain significance Single submitter
- CA4 p.Leu256Gln Uncertain significance Single submitter
- CA4 p.Leu94Gln Uncertain significance Single submitter
- CA4 p.Lys124Glu Uncertain significance Single submitter
- CA4 p.Lys154Thr Uncertain significance Single submitter
- CA4 p.Lys48Arg Uncertain significance Single submitter
- CA4 p.Met139Ile Uncertain significance Single submitter
- CA4 p.Met199Thr Uncertain significance Single submitter
- CA4 p.Met266Leu Uncertain significance Single submitter
- CA4 p.Met3Thr Uncertain significance Single submitter
- CA4 p.Phe218Leu Uncertain significance Single submitter
- CA4 p.Phe238Leu Uncertain significance Single submitter
- CA4 p.Pro108Ala Uncertain significance Single submitter
- CA4 p.Pro227Arg Uncertain significance Single submitter
- CA4 p.Pro227Gln Uncertain significance Single submitter
- CA4 p.Pro287Leu Uncertain significance Single submitter
- CA4 p.Pro296Leu Uncertain significance Single submitter
- CA4 p.Pro296Ser Uncertain significance Single submitter
- CA4 p.Pro35Ser Uncertain significance Single submitter
- CA4 p.Pro39Ser Uncertain significance Single submitter
- CA4 p.Ser126Leu Uncertain significance Single submitter
- CA4 p.Thr225Ala Uncertain significance Single submitter
- CA4 p.Thr80Met Uncertain significance Single submitter
- CA4 p.Trp118Leu Uncertain significance Single submitter
- CA4 p.Trp235Cys Uncertain significance Single submitter
- CA4 p.Trp42Cys Uncertain significance Single submitter
- CA4 p.Tyr109His Uncertain significance Single submitter
- CA4 p.Tyr258Asp Uncertain significance Single submitter
- CA4 p.Tyr25Cys Uncertain significance Single submitter
- CA4 p.Val142Ala Uncertain significance Single submitter
- CA4 p.Val142Leu Uncertain significance Single submitter
- CA4 p.Val237Met Uncertain significance Single submitter
-
CA4 p.Arg219Ser
Uncertain significance
No assertion criteria
retinitis pigmentosa 17
-
CA4 p.Cys229Tyr
Uncertain significance
No assertion criteria
inherited retinal dystrophy
Predictors split 61
The independent predictors disagree with each other — read with care.
- CA4 p.Asp206Glu Uncertain significance Multiple submitters
-
CA4 p.Gln79Lys
Likely benign
Multiple submitters
retinitis pigmentosa
- CA4 p.Glu30Asp Uncertain significance Multiple submitters
- CA4 p.Gly277Glu Uncertain significance Multiple submitters
- CA4 p.Lys232Asn Uncertain significance Multiple submitters
- CA4 p.Met137Leu Uncertain significance Multiple submitters
- CA4 p.Thr280Met Uncertain significance Multiple submitters
- CA4 p.Val264Met Uncertain significance Multiple submitters
- CA4 p.Ala107Thr Conflicting Single submitter
- CA4 p.Ala107Val Uncertain significance Single submitter
- CA4 p.Ala111Ser Uncertain significance Single submitter
- CA4 p.Ala12Thr Uncertain significance Single submitter
- CA4 p.Ala286Val Uncertain significance Single submitter
- CA4 p.Ala308Asp Conflicting Single submitter
- CA4 p.Arg151Gly Uncertain significance Single submitter
- CA4 p.Arg219Cys Uncertain significance Single submitter
- CA4 p.Arg219His Likely pathogenic Single submitter
- CA4 p.Arg239Trp Uncertain significance Single submitter
- CA4 p.Arg50Cys Uncertain significance Single submitter
- CA4 p.Arg69Cys Uncertain significance Single submitter
- CA4 p.Asp206Tyr Uncertain significance Single submitter
- CA4 p.Asp64Asn Uncertain significance Single submitter
- CA4 p.Asp64Gly Uncertain significance Single submitter
- CA4 p.Glu211Val Uncertain significance Single submitter
- CA4 p.Gly102Ala Uncertain significance Single submitter
- CA4 p.Gly300Asp Uncertain significance Single submitter
-
CA4 p.Gly43Val
Conflicting
Single submitter
retinitis pigmentosa
- CA4 p.Ile190Met Uncertain significance Single submitter
- CA4 p.Leu169Val Uncertain significance Single submitter
- CA4 p.Leu205Phe Uncertain significance Single submitter
- CA4 p.Leu256Val Uncertain significance Single submitter
- CA4 p.Leu276Val Uncertain significance Single submitter
- CA4 p.Leu298Pro Uncertain significance Single submitter
- CA4 p.Leu299Pro Uncertain significance Single submitter
- CA4 p.Leu4Pro Uncertain significance Single submitter
- CA4 p.Leu5Gln Uncertain significance Single submitter
- CA4 p.Lys112Arg Uncertain significance Single submitter
- CA4 p.Lys255Arg Uncertain significance Single submitter
- CA4 p.Lys267Asn Uncertain significance Single submitter
- CA4 p.Lys62Asn Uncertain significance Single submitter
- CA4 p.Lys62Gln Uncertain significance Single submitter
- CA4 p.Met137Val Uncertain significance Single submitter
- CA4 p.Met199Lys Uncertain significance Single submitter
- CA4 p.Met199Val Uncertain significance Single submitter
- CA4 p.Phe135Leu Uncertain significance Single submitter
- CA4 p.Phe252Leu Uncertain significance Single submitter
-
CA4 p.Phe72Leu
Uncertain significance
Single submitter
inherited retinal dystrophy
- CA4 p.Pro182Ser Uncertain significance Single submitter
- CA4 p.Pro272Ala Uncertain significance Single submitter
- CA4 p.Ser101Phe Uncertain significance Single submitter
- CA4 p.Ser129Asn Uncertain significance Single submitter
- CA4 p.Ser150Leu Uncertain significance Single submitter
- CA4 p.Thr198Ala Uncertain significance Single submitter
- CA4 p.Thr198Met Uncertain significance Single submitter
- CA4 p.Thr228Ile Uncertain significance Single submitter
- CA4 p.Thr58Ala Uncertain significance Single submitter
- CA4 p.Tyr123Cys Uncertain significance Single submitter
- CA4 p.Tyr217Phe Uncertain significance Single submitter
- CA4 p.Val184Ala Uncertain significance Single submitter
- CA4 p.Val184Leu Uncertain significance Single submitter
- CA4 p.Val237Leu Conflicting Single submitter
All CA4 variants
Pathogenic 4
- p.Cys46Ter Single submitter
- p.Gln84Ter Single submitter
- p.Glu20Ter Single submitter
- p.Tyr34Ter Single submitter
Likely pathogenic 10
- c.112+1G>A Single submitter
- c.113-2A>C Single submitter
- c.268+1G>A Single submitter
- c.415-1G>A Single submitter
- c.415-2_416del Single submitter
- c.513+1G>T Single submitter
- p.Arg219His Single submitter ⚠
- p.Cys229Ter Single submitter inherited retinal dystrophy
- p.Ter313Arg Single submitter inherited retinal dystrophy
- p.Tyr123fs Single submitter
Conflicting classifications of pathogenicity 17
- c.58+10C>G Single submitter retinitis pigmentosa
- c.*59G>A Single submitter retinitis pigmentosa 17
- p.Ala107Thr Single submitter ⚠
- p.Ala251= Single submitter retinitis pigmentosa
- p.Ala308Asp Single submitter ⚠
- p.Arg14Trp Single submitter retinitis pigmentosa ⚠
- p.Arg69His Single submitter inherited retinal dystrophy ⚠
- p.Asn86= Single submitter inherited retinal dystrophy
- p.Gln254Pro Single submitter retinitis pigmentosa ⚠
- p.Glu178Lys Single submitter ⚠
- p.Gly43Val Single submitter retinitis pigmentosa ⚠
- p.Lys267Arg Single submitter inherited retinal dystrophy ⚠
- p.Met139Leu Single submitter retinitis pigmentosa ⚠
- p.Pro227= Single submitter retinitis pigmentosa
- p.Thr263Ala Single submitter inherited retinal dystrophy ⚠
- p.Val233= Single submitter retinitis pigmentosa
- p.Val237Leu Single submitter ⚠
Benign 11
- c.-24G>C Multiple submitters retinitis pigmentosa
- c.-47C>G Multiple submitters retinitis pigmentosa
- p.Ala164= Multiple submitters inherited retinal dystrophy
- p.Arg239Gln Multiple submitters retinitis pigmentosa
- p.Tyr75= Multiple submitters
- c.112+22del Single submitter
- c.58+18G>C Single submitter
- c.744+18C>T Single submitter
- c.*17G>A Single submitter retinitis pigmentosa
- p.Ala156= Single submitter inherited retinal dystrophy
- p.Lys60= Single submitter
Benign/Likely benign 8
- p.Asn177Lys Multiple submitters retinitis pigmentosa
- p.Gly125= Multiple submitters retinitis pigmentosa
- p.Gly68= Multiple submitters retinitis pigmentosa
- p.Lys145= Multiple submitters retinitis pigmentosa
- p.Pro287= Multiple submitters inherited retinal dystrophy
- p.Pro290Leu Multiple submitters retinitis pigmentosa
- p.Ser119= Multiple submitters retinitis pigmentosa
- p.Val234Ile Multiple submitters retinitis pigmentosa
Likely benign 110
- c.580+19G>A Multiple submitters
- p.Asn177= Multiple submitters
- p.Asn269= Multiple submitters retinitis pigmentosa
- p.Asp161= Multiple submitters inherited retinal dystrophy
- p.Gln79Lys Multiple submitters retinitis pigmentosa ⚠
- c.112+14G>T Single submitter
- c.112+17C>A Single submitter
- c.113-17C>T Single submitter
- c.113-8C>T Single submitter
- c.113-9C>T Single submitter
- c.268+10A>T Single submitter
- c.268+11T>C Single submitter
- c.268+17C>A Single submitter
- c.268+17C>T Single submitter
- c.268+7T>A Single submitter
- c.269-11dup Single submitter
- c.414+10C>T Single submitter
- c.414+11C>T Single submitter
- c.414+14C>T Single submitter
- c.414+16C>T Single submitter
- c.414+17G>A Single submitter
- c.414+18A>C Single submitter
- c.415-12C>A Single submitter
- c.415-12C>T Single submitter
- c.415-14_415-7del Single submitter
- c.415-4C>A Single submitter
- c.415-5A>G Single submitter
- c.415-6G>A Single submitter
- c.415-6G>T Single submitter
- c.415-7C>T Single submitter
- c.415-8C>T Single submitter
- c.415-9C>A Single submitter
- c.513+15C>T Single submitter
- c.513+18C>T Single submitter
- c.514-12C>T Single submitter
- c.514-15del Single submitter
- c.58+10C>A Single submitter
- c.58+17C>G Single submitter
- c.58+18G>A Single submitter
- c.580+10G>A Single submitter
- c.580+17G>T Single submitter
- c.581-10C>T Single submitter
- c.581-12C>T Single submitter
- c.581-13G>A Single submitter
- c.581-18C>T Single submitter
- c.581-5C>T Single submitter
- c.581-6T>A Single submitter
- c.581-7A>G Single submitter
- c.59-13C>G Single submitter
- c.59-13C>T Single submitter
- c.59-6C>T Single submitter
- c.59-9C>T Single submitter
- c.744+15G>A Single submitter
- c.745-4G>A Single submitter
- c.745-5C>T Single submitter
- p.Ala111= Single submitter
- p.Ala172= Single submitter
- p.Ala29= Single submitter
- p.Ala9= Single submitter
- p.Arg2= Single submitter
- p.Arg246Lys Single submitter
- p.Arg271= Single submitter
- p.Arg279= Single submitter
- p.Arg289= Single submitter
- p.Arg312= Single submitter
- p.Arg50= Single submitter
- p.Asp206= Single submitter
- p.Asp268= Single submitter
- p.Asp49= Single submitter
- p.Cys229= Single submitter
- p.Cys24= Single submitter
- p.Glu178= Single submitter
- p.Glu201= Single submitter
- p.Glu211= Single submitter
- p.Glu240= Single submitter
- p.Glu261= Single submitter
- p.Glu95= Single submitter
- p.Gly102= Single submitter
- p.Gly103= Single submitter
- p.Gly43= Single submitter
- p.Ile56= Single submitter
- p.Leu114Ser Single submitter
- p.Leu130= Single submitter
- p.Leu169= Single submitter
- p.Leu256= Single submitter
- p.Lys154= Single submitter
- p.Lys213= Single submitter
- p.Lys255= Single submitter
- p.Lys48= Single submitter
- p.Pro122= Single submitter
- p.Pro272= Single submitter
- p.Pro290= Single submitter
- p.Pro301= Single submitter
- p.Pro35= Single submitter
- p.Ser11= Single submitter
- p.Ser126= Single submitter
- p.Ser150= Single submitter
- p.Ser284= Single submitter
- p.Thr174= Single submitter
- p.Thr263Arg Single submitter inherited retinal dystrophy
- p.Thr80= Single submitter
- p.Tyr25= Single submitter
- p.Tyr258= Single submitter
- p.Tyr34= Single submitter
- p.Val153= Single submitter
- p.Val170= Single submitter
- p.Val264= Single submitter
- p.Val270= Single submitter
- p.Val40= Single submitter
- p.Val57= Single submitter
Uncertain significance 182
- c.744+3G>A Multiple submitters retinitis pigmentosa
- p.Ala156Val Multiple submitters ⚠
- p.Ala308Ser Multiple submitters ⚠
- p.Arg50His Multiple submitters ⚠
- p.Arg50Ser Multiple submitters ⚠
- p.Asp131Asn Multiple submitters ⚠
- p.Asp206Glu Multiple submitters ⚠
- p.Asp259Asn Multiple submitters ⚠
- p.Asp268Asn Multiple submitters inherited retinal dystrophy ⚠
- p.Asp76Asn Multiple submitters ⚠
- p.Glu160Asp Multiple submitters ⚠
- p.Glu30Asp Multiple submitters ⚠
- p.Gly222Asp Multiple submitters ⚠
- p.Gly277Glu Multiple submitters ⚠
- p.Gly285Arg Multiple submitters ⚠
- p.Gly288Ser Multiple submitters ⚠
- p.Gly87Glu Multiple submitters retinitis pigmentosa 17 ⚠
- p.Ile141Thr Multiple submitters ⚠
- p.Ile54Met Multiple submitters retinitis pigmentosa ⚠
- p.Leu221Arg Multiple submitters ⚠
- p.Lys192Arg Multiple submitters retinitis pigmentosa ⚠
- p.Lys232Asn Multiple submitters ⚠
- p.Met137Ile Multiple submitters ⚠
- p.Met137Leu Multiple submitters ⚠
- p.Phe70Cys Multiple submitters ⚠
- p.Phe70Leu Multiple submitters retinitis pigmentosa ⚠
- p.Phe72del Multiple submitters
- p.Pro227Leu Multiple submitters retinitis pigmentosa 17 ⚠
- p.Thr280Met Multiple submitters ⚠
- p.Val233Leu Multiple submitters ⚠
- p.Val264Met Multiple submitters ⚠
- p.Val57Ile Multiple submitters ⚠
- c.268+3G>A Single submitter
- c.268+4G>A Single submitter
- c.513+5G>T Single submitter
- c.513+6A>G Single submitter
- c.580+6T>A Single submitter
- c.744+2T>C Single submitter
- c.744+3G>T Single submitter
- c.745-3C>A Single submitter
- c.745-9C>G Single submitter
- c.*78T>C Single submitter retinitis pigmentosa
- p.Ala107Val Single submitter ⚠
- p.Ala111Ser Single submitter ⚠
- p.Ala12Thr Single submitter ⚠
- p.Ala167= Single submitter inherited retinal dystrophy
- p.Ala19Thr Single submitter ⚠
- p.Ala286Val Single submitter ⚠
- p.Ala294Thr Single submitter ⚠
- p.Ala6Val Single submitter ⚠
- p.Ala98Thr Single submitter ⚠
- p.Arg151Gly Single submitter ⚠
- p.Arg2_Met3del Single submitter
- p.Arg219Cys Single submitter ⚠
- p.Arg239Trp Single submitter ⚠
- p.Arg271Ser Single submitter ⚠
- p.Arg279Cys Single submitter ⚠
- p.Arg279His Single submitter ⚠
- p.Arg279Leu Single submitter ⚠
- p.Arg279Pro Single submitter ⚠
- p.Arg312Gln Single submitter ⚠
- p.Arg312Ter Single submitter
- p.Arg50Cys Single submitter ⚠
- p.Arg50Pro Single submitter ⚠
- p.Arg69Cys Single submitter ⚠
- p.Arg69Ser Single submitter ⚠
- p.Asn269Ile Single submitter ⚠
- p.Asn85Thr Single submitter ⚠
- p.Asn96= Single submitter retinitis pigmentosa
- p.Asp120Asn Single submitter ⚠
- p.Asp131Tyr Single submitter ⚠
- p.Asp206Tyr Single submitter ⚠
- p.Asp230Asn Single submitter ⚠
- p.Asp64Asn Single submitter ⚠
- p.Asp64Gly Single submitter ⚠
- p.Cys24Tyr Single submitter ⚠
- p.Cys305_Ala308del Single submitter
- p.Cys305Ser Single submitter ⚠
- p.Cys36Phe Single submitter ⚠
- p.Cys46Gly Single submitter ⚠
- p.Gln262Glu Single submitter ⚠
- p.Gln262His Single submitter ⚠
- p.Gln275Ter Single submitter
- p.Gln278Arg Single submitter ⚠
- p.Glu146Lys Single submitter ⚠
- p.Glu162Lys Single submitter ⚠
- p.Glu171= Single submitter
- p.Glu171Lys Single submitter ⚠
- p.Glu20Ala Single submitter ⚠
- p.Glu211Val Single submitter ⚠
- p.Glu261Lys Single submitter ⚠
- p.Glu26Lys Single submitter ⚠
- p.Glu30Lys Single submitter ⚠
- p.Gly102Ala Single submitter ⚠
- p.Gly125Val Single submitter ⚠
- p.Gly222Ala Single submitter ⚠
- p.Gly285fs Single submitter
- p.Gly300Asp Single submitter ⚠
- p.Gly309Ser Single submitter ⚠
- p.Gly44Glu Single submitter ⚠
- p.Gly68Glu Single submitter inherited retinal dystrophy ⚠
- p.Gly87Arg Single submitter ⚠
- p.His117Arg Single submitter ⚠
- p.His117Tyr Single submitter ⚠
- p.His134Asn Single submitter ⚠
- p.His245Gln Single submitter ⚠
- p.His88Leu Single submitter ⚠
- p.Ile141Val Single submitter ⚠
- p.Ile190Met Single submitter ⚠
- p.Ile242Thr Single submitter ⚠
- p.Ile242Val Single submitter ⚠
- p.Ile282Met Single submitter ⚠
- p.Leu116Gln Single submitter ⚠
- p.Leu169Val Single submitter ⚠
- p.Leu205Phe Single submitter ⚠
- p.Leu256Gln Single submitter ⚠
- p.Leu256Val Single submitter ⚠
- p.Leu276Val Single submitter ⚠
- p.Leu298Pro Single submitter ⚠
- p.Leu299Pro Single submitter ⚠
- p.Leu37= Single submitter
- p.Leu4Pro Single submitter ⚠
- p.Leu5Gln Single submitter ⚠
- p.Leu94Gln Single submitter ⚠
- p.Lys112Arg Single submitter ⚠
- p.Lys124Glu Single submitter ⚠
- p.Lys154Thr Single submitter ⚠
- p.Lys255Arg Single submitter ⚠
- p.Lys267Asn Single submitter ⚠
- p.Lys48Arg Single submitter ⚠
- p.Lys62Asn Single submitter ⚠
- p.Lys62Gln Single submitter ⚠
- p.Met137Val Single submitter ⚠
- p.Met139Ile Single submitter ⚠
- p.Met199Lys Single submitter ⚠
- p.Met199Thr Single submitter ⚠
- p.Met199Val Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met266Leu Single submitter ⚠
- p.Met3Thr Single submitter ⚠
- p.Phe135Leu Single submitter ⚠
- p.Phe218Leu Single submitter ⚠
- p.Phe238Leu Single submitter ⚠
- p.Phe252Leu Single submitter ⚠
- p.Phe72Leu Single submitter inherited retinal dystrophy ⚠
- p.Pro108Ala Single submitter ⚠
- p.Pro182Ser Single submitter ⚠
- p.Pro227Arg Single submitter ⚠
- p.Pro227Gln Single submitter ⚠
- p.Pro272Ala Single submitter ⚠
- p.Pro287Leu Single submitter ⚠
- p.Pro296Leu Single submitter ⚠
- p.Pro296Ser Single submitter ⚠
- p.Pro35Ser Single submitter ⚠
- p.Pro39Ser Single submitter ⚠
- p.Ser101Phe Single submitter ⚠
- p.Ser126Leu Single submitter ⚠
- p.Ser129Asn Single submitter ⚠
- p.Ser150Leu Single submitter ⚠
- p.Ter313ProextTer? Single submitter
- p.Thr198Ala Single submitter ⚠
- p.Thr198Met Single submitter ⚠
- p.Thr225Ala Single submitter ⚠
- p.Thr228Ile Single submitter ⚠
- p.Thr58Ala Single submitter ⚠
- p.Thr80Met Single submitter ⚠
- p.Trp118Leu Single submitter ⚠
- p.Trp235Cys Single submitter ⚠
- p.Trp42Cys Single submitter ⚠
- p.Tyr109His Single submitter ⚠
- p.Tyr123Cys Single submitter ⚠
- p.Tyr217Phe Single submitter ⚠
- p.Tyr258Asp Single submitter ⚠
- p.Tyr258Ser Single submitter
- p.Tyr25Cys Single submitter ⚠
- p.Val142Ala Single submitter ⚠
- p.Val142Leu Single submitter ⚠
- p.Val184Ala Single submitter ⚠
- p.Val184Leu Single submitter ⚠
- p.Val237Met Single submitter ⚠
- p.Arg219Ser No assertion criteria retinitis pigmentosa 17 ⚠
- p.Cys229Tyr No assertion criteria inherited retinal dystrophy ⚠