DHDDS — 591 ClinVar variants

All ClinVar germline DHDDS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 224 flagged for review →

11 Pathogenic · 6 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 18 Conflicting · 15 Benign · 242 Likely benign · 277 Uncertain significance

Full DHDDS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 224

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 4

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

DHDDS p.Arg298His Conflicting Single submitter
retinitis pigmentosa 59
DHDDS p.Arg38Cys Conflicting Single submitter
retinitis pigmentosa 59
DHDDS p.Arg47Gln Conflicting Single submitter
retinitis pigmentosa 59
DHDDS p.Ser303Leu Conflicting Single submitter
inherited retinal dystrophy

Predicted LoF vs a conflicting call 5

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

DHDDS c.323+2_323+5del Conflicting Single submitter
retinitis pigmentosa 59
DHDDS p.Arg258Ter Conflicting Single submitter
retinitis pigmentosa 59
DHDDS p.Arg295Ter Conflicting Single submitter
retinitis pigmentosa 59
DHDDS p.Gln268Ter Conflicting Single submitter
retinitis pigmentosa 59
DHDDS p.Trp64Ter Conflicting Single submitter
retinitis pigmentosa 59

Predictors lean, ClinVar uncertain 107

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

DHDDS p.Ala292Thr Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Ala77Thr Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Arg159His Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Arg196Cys Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Arg196His Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Arg265Gln Uncertain significance Multiple submitters
retinitis pigmentosa
DHDDS p.Arg265Trp Uncertain significance Multiple submitters
Inborn genetic diseases
DHDDS p.Arg298Cys Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Asn18Ser Uncertain significance Multiple submitters
retinitis pigmentosa
DHDDS p.Asn195Thr Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Asn250Lys Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Asp182Gly Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Asp323Glu Uncertain significance Multiple submitters
inherited retinal dystrophy
DHDDS p.Cys191Arg Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Gln248His Uncertain significance Multiple submitters
Inborn genetic diseases
DHDDS p.Glu242Lys Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Glu307Gln Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Gly122Ser Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Gly92Arg Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Leu254Pro Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Leu281Pro Uncertain significance Multiple submitters
Inborn genetic diseases
DHDDS p.Lys108Arg Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Pro198Ser Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Thr142Met Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Ala165Val Uncertain significance Single submitter
inherited retinal dystrophy
DHDDS p.Ala17Thr Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ala22Val Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ala77Val Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ala97Val Uncertain significance Single submitter
DHDDS p.Arg159Cys Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg205Trp Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg211Trp Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg283Gln Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg295Gln Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg306Trp Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg309Leu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg321Pro Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg37Leu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg63Gln Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg85His Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg85Ser Uncertain significance Single submitter
developmental delay and seizures with or without movement abnormalities
DHDDS p.Asn146Lys Uncertain significance Single submitter
DHDDS p.Asn18Lys Uncertain significance Single submitter
DHDDS p.Asn56Ser Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Asp130Glu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Asp259Asn Uncertain significance Single submitter
retinitis pigmentosa
DHDDS p.Asp259Gly Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Cys148Tyr Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gln228His Uncertain significance Single submitter
inherited retinal dystrophy
DHDDS p.Gln246His Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gln255Arg Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gln315Arg Uncertain significance Single submitter
DHDDS p.Gln44His Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gln48His Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Glu8Gln Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gly172Arg Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gly208Glu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gly290Ala Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gly290Glu Uncertain significance Single submitter
DHDDS p.Gly329Ser Uncertain significance Single submitter
DHDDS-CDG
DHDDS p.Gly35Arg Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gly50Ser Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gly54Val Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gly7Glu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.His125Arg Uncertain significance Single submitter
Inborn genetic diseases
DHDDS p.His28Tyr Uncertain significance Single submitter
developmental delay and seizures with or without movement abnormalities
DHDDS p.His300Asn Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ile19Ser Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ile202Val Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ile20Val Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ile29Thr Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ile29Val Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ile32Val Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ile70Val Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Leu126Ser Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Leu131Phe Uncertain significance Single submitter
DHDDS p.Leu187Val Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Leu231Val Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Leu328Met Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Lys100Thr Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Lys110Glu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Lys27Gln Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Met105Thr Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Met169Leu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Met260Val Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Met94Thr Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Phe149Leu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Phe149Ser Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Phe227Leu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Phe241Cys Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Phe31Leu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Pro229Thr Uncertain significance Single submitter
DHDDS p.Pro233Ser Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Pro26Leu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ser207Cys Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ser252Arg Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ser289Asn Uncertain significance Single submitter
DHDDS p.Ser79Gly Uncertain significance Single submitter
Inborn genetic diseases
DHDDS p.Ser88Gly Uncertain significance Single submitter
developmental delay and seizures with or without movement abnormalities
DHDDS p.Thr142Arg Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Thr236Ser Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Thr330Asn Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Glu209Gln Uncertain significance No assertion criteria
retinitis pigmentosa 59
DHDDS p.Glu308Lys Uncertain significance No assertion criteria
retinitis pigmentosa 59
DHDDS p.Leu317Val Uncertain significance No assertion criteria
retinitis pigmentosa 59
DHDDS p.Ser88Asn Uncertain significance No assertion criteria
inherited retinal dystrophy
DHDDS p.Thr236Ile Uncertain significance No assertion criteria
retinitis pigmentosa 59

Predictors split 108

The independent predictors disagree with each other — read with care.

DHDDS p.Ala316Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DHDDS p.Arg103His Uncertain significance Multiple submitters
developmental delay and seizures with or without movement abnormalities
DHDDS p.Arg119Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DHDDS p.Arg298Pro Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Arg306Gln Uncertain significance Multiple submitters
retinitis pigmentosa
DHDDS p.Arg327Cys Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Arg327His Uncertain significance Multiple submitters
Inborn genetic diseases
DHDDS p.Arg47Trp Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Arg63Trp Uncertain significance Multiple submitters
Inborn genetic diseases
DHDDS p.Asp123Asn Uncertain significance Multiple submitters
DHDDS-related disorder
DHDDS p.Asp189Gly Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Asp273Tyr Uncertain significance Multiple submitters
developmental delay and seizures with or without movement abnormalities
DHDDS p.Asp291Glu Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Gln140Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DHDDS p.Gln53Glu Uncertain significance Multiple submitters
retinitis pigmentosa
DHDDS p.Glu168Gln Uncertain significance Multiple submitters
Inborn genetic diseases
DHDDS p.His160Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DHDDS p.Leu282Pro Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Leu286Ile Uncertain significance Multiple submitters
inherited retinal dystrophy
DHDDS p.Lys113Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DHDDS p.Lys147Arg Uncertain significance Multiple submitters
developmental delay and seizures with or without movement abnormalities
DHDDS p.Lys42Glu Pathogenic Multiple submitters
developmental delay and seizures with or without movement abnormalities
DHDDS p.Lys84Arg Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Met25Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DHDDS p.Thr194Ala Uncertain significance Multiple submitters
retinitis pigmentosa 59
DHDDS p.Val139Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DHDDS p.Val173Met Uncertain significance Multiple submitters
developmental delay and seizures with or without movement abnormalities
DHDDS p.Val230Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DHDDS p.Ala316Ser Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ala331Pro Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ala59Val Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg103Cys Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg14Gly Uncertain significance Single submitter
Inborn genetic diseases
DHDDS p.Arg14Trp Uncertain significance Single submitter
DHDDS p.Arg258Gln Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg321Gln Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg327Gly Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg98Gln Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Arg98Trp Conflicting Single submitter
developmental delay and seizures with or without movement abnormalities
DHDDS p.Asn164Ser Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Asn239Lys Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Asp189Asn Conflicting Single submitter
Inborn genetic diseases
DHDDS p.Asp189His Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Asp273Asn Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Asp323Val Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Asp91His Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Asp95Asn Uncertain significance Single submitter
DHDDS p.Asp95Gly Uncertain significance Single submitter
DHDDS p.Cys117Ser Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gln112Arg Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gln137His Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gln269Arg Uncertain significance Single submitter
DHDDS p.Gln274His Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gln280Pro Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gln315His Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gln315Leu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gln48Arg Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Glu133Asp Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Glu264Asp Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Glu264Lys Uncertain significance Single submitter
Inborn genetic diseases
DHDDS p.Glu284Gly Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Glu307Lys Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gly285Arg Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Gly69Ser Uncertain significance Single submitter
DHDDS p.Gly7Arg Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.His125Tyr Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.His300Tyr Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ile135Thr Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ile183Leu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ile70Leu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Leu129Phe Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Leu245Val Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Leu286Pro Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Leu302Phe Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Lys100Arg Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Lys108Asn Uncertain significance Single submitter
Inborn genetic diseases
DHDDS p.Lys21Asn Uncertain significance Single submitter
developmental delay and seizures with or without movement abnormalities
DHDDS p.Lys42Arg Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Lys57Arg Uncertain significance Single submitter
inherited retinal dystrophy
DHDDS p.Lys5Asn Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Lys87Arg Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Lys87Glu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Phe15Tyr Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Phe237Cys Uncertain significance Single submitter
retinitis pigmentosa
DHDDS p.Phe237Leu Uncertain significance Single submitter
developmental delay and seizures with or without movement abnormalities
DHDDS p.Pro180Arg Uncertain significance Single submitter
developmental delay and seizures with or without movement abnormalities
DHDDS p.Ser102Arg Uncertain significance Single submitter
Inborn genetic diseases
DHDDS p.Ser102Asn Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ser184Ala Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ser186Cys Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ser197Cys Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ser223Cys Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ser289Ile Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ser303Pro Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ser52Leu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Ser86Cys Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Trp171Cys Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Trp171Leu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Tyr193Cys Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Val166Leu Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Val166Met Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Val173Ala Uncertain significance Single submitter
DHDDS p.Val210Met Uncertain significance Single submitter
retinitis pigmentosa 59
DHDDS p.Asn56Lys Uncertain significance No assertion criteria
retinitis pigmentosa 59
DHDDS p.Asp273Glu Uncertain significance No assertion criteria
retinitis pigmentosa 59
DHDDS p.Gly115Arg Uncertain significance No assertion criteria
retinitis pigmentosa 59
DHDDS p.His251Arg Uncertain significance No assertion criteria
retinitis pigmentosa 59
DHDDS p.Leu177Gln Uncertain significance No assertion criteria
retinitis pigmentosa 59

All DHDDS variants

Pathogenic 11

p.Arg205Gln Multiple submitters retinitis pigmentosa 59
p.Arg211Gln Multiple submitters retinitis pigmentosa 59
p.Arg37Cys Multiple submitters retinitis pigmentosa 59
p.Arg37Ser Multiple submitters retinitis pigmentosa 59
p.Lys42Glu Multiple submitters developmental delay and seizures with or without movement abnormalities ⚠
p.Pro233Arg Multiple submitters retinitis pigmentosa 59
p.Asp34fs Single submitter retinitis pigmentosa 59
p.Pro128fs Single submitter retinitis pigmentosa 59
p.Trp12Ter Single submitter retinitis pigmentosa 59
p.Trp171fs Single submitter retinitis pigmentosa 59
p.Trp238Ter Single submitter retinitis pigmentosa 59

Pathogenic/Likely pathogenic 6

p.Arg37His Multiple submitters retinitis pigmentosa 59
p.Arg38His Multiple submitters Inborn genetic diseases
p.Gly35Glu Multiple submitters retinitis pigmentosa 59
p.Ser88fs Multiple submitters retinitis pigmentosa 59
p.Trp171Ter Multiple submitters retinitis pigmentosa 59
p.Val173fs Multiple submitters retinitis pigmentosa 59

Likely pathogenic 22

c.441-24A>G Multiple submitters retinitis pigmentosa 59
c.658-2A>G Multiple submitters retinitis pigmentosa 59
p.His222fs Multiple submitters retinitis pigmentosa 59
p.Thr206Ala Multiple submitters retinitis pigmentosa
c.324-1G>T Single submitter retinitis pigmentosa 59
c.441-2A>T Single submitter retinitis pigmentosa 59
c.650_657+54del Single submitter retinitis pigmentosa 59
c.657+1G>A Single submitter retinitis pigmentosa 59
p.Arg211Gly Single submitter Inborn genetic diseases
p.Arg309Ter Single submitter
p.Arg85Cys Single submitter developmental delay and seizures with or without movement abnormalities
p.Gln246Ter Single submitter inherited retinal dystrophy
p.Gln274Ter Single submitter retinitis pigmentosa 59
p.Gly54Glu Single submitter
p.Lys190Ter Single submitter retinitis pigmentosa 59
p.Lys42Ter Single submitter retinitis pigmentosa 59
p.Phe215fs Single submitter retinitis pigmentosa 59
p.Ser213Asn Single submitter DHDDS-related disorder
p.Thr276fs Single submitter retinitis pigmentosa 59
p.Trp232Ter Single submitter retinitis pigmentosa 59
p.Tyr235Ter Single submitter retinitis pigmentosa 59
p.Asp34Glu No assertion criteria retinitis pigmentosa 59

Conflicting classifications of pathogenicity 18

c.181-16C>A Single submitter retinitis pigmentosa 59
c.323+2_323+5del Single submitter retinitis pigmentosa 59 ⚠
c.542+8G>T Single submitter retinitis pigmentosa 59
c.*128C>G Single submitter retinitis pigmentosa
p.Arg258Ter Single submitter retinitis pigmentosa 59 ⚠
p.Arg295Ter Single submitter retinitis pigmentosa 59 ⚠
p.Arg298His Single submitter retinitis pigmentosa 59 ⚠
p.Arg38Cys Single submitter retinitis pigmentosa 59 ⚠
p.Arg47Gln Single submitter retinitis pigmentosa 59 ⚠
p.Arg98Trp Single submitter developmental delay and seizures with or without movement abnormalities ⚠
p.Asp189Asn Single submitter Inborn genetic diseases ⚠
p.Gln268Ter Single submitter retinitis pigmentosa 59 ⚠
p.Gly122= Single submitter retinitis pigmentosa 59
p.Ser197= Single submitter retinitis pigmentosa 59
p.Ser303Leu Single submitter inherited retinal dystrophy ⚠
p.Thr330= Single submitter retinitis pigmentosa 59
p.Trp64Ter Single submitter retinitis pigmentosa 59 ⚠
p.Tyr156= Single submitter retinitis pigmentosa 59

Benign 15

c.324-10C>T Multiple submitters retinitis pigmentosa 59
c.542+8G>A Multiple submitters retinitis pigmentosa 59
c.-150G>A Multiple submitters retinitis pigmentosa
c.-55-233A>G Multiple submitters
c.*1300G>C Multiple submitters retinitis pigmentosa
c.*1886C>T Multiple submitters retinitis pigmentosa
c.*2032C>T Multiple submitters retinitis pigmentosa
p.Leu188= Multiple submitters retinitis pigmentosa 59
p.Val253Met Multiple submitters developmental delay and seizures with or without movement abnormalities
c.323+184_323+185insTTTTTT Single submitter
c.440+256GT[12] Single submitter
c.542+17del Single submitter retinitis pigmentosa 59
c.543-208del Single submitter
c.543-209_543-208del Single submitter
c.64-212G>A Single submitter

Likely benign 242

c.181-161A>G Multiple submitters
c.*629C>T Multiple submitters retinitis pigmentosa
c.180+13G>A Single submitter retinitis pigmentosa 59
c.180+15C>T Single submitter retinitis pigmentosa 59
c.180+18A>G Single submitter retinitis pigmentosa 59
c.180+19G>A Single submitter retinitis pigmentosa 59
c.180+6dup Single submitter retinitis pigmentosa 59
c.180+9G>A Single submitter retinitis pigmentosa 59
c.180+9G>T Single submitter retinitis pigmentosa 59
c.181-17G>A Single submitter retinitis pigmentosa 59
c.181-5C>T Single submitter retinitis pigmentosa 59
c.181-7C>G Single submitter retinitis pigmentosa 59
c.181-7C>T Single submitter retinitis pigmentosa 59
c.181-8C>T Single submitter retinitis pigmentosa 59
c.181-9C>T Single submitter retinitis pigmentosa 59
c.323+10T>C Single submitter retinitis pigmentosa 59
c.323+11A>C Single submitter retinitis pigmentosa 59
c.323+16A>T Single submitter retinitis pigmentosa 59
c.323+17G>A Single submitter retinitis pigmentosa 59
c.323+7T>G Single submitter retinitis pigmentosa 59
c.323+9C>G Single submitter retinitis pigmentosa 59
c.324-18C>T Single submitter retinitis pigmentosa 59
c.324-20T>C Single submitter retinitis pigmentosa 59
c.324-4T>G Single submitter retinitis pigmentosa 59
c.324-6G>C Single submitter retinitis pigmentosa 59
c.324-7T>C Single submitter retinitis pigmentosa 59
c.324-8C>T Single submitter retinitis pigmentosa 59
c.324-9C>A Single submitter retinitis pigmentosa 59
c.324-9C>T Single submitter retinitis pigmentosa 59
c.440+10C>T Single submitter retinitis pigmentosa 59
c.440+12_440+13del Single submitter retinitis pigmentosa 59
c.440+14T>G Single submitter retinitis pigmentosa 59
c.440+20T>C Single submitter retinitis pigmentosa 59
c.440+7T>A Single submitter retinitis pigmentosa 59
c.440+7T>G Single submitter retinitis pigmentosa 59
c.440+8C>A Single submitter retinitis pigmentosa 59
c.441-10C>T Single submitter retinitis pigmentosa 59
c.441-12_441-10del Single submitter retinitis pigmentosa 59
c.441-14T>G Single submitter retinitis pigmentosa 59
c.441-16_441-15del Single submitter retinitis pigmentosa 59
c.441-18C>A Single submitter retinitis pigmentosa 59
c.441-20T>G Single submitter retinitis pigmentosa 59
c.441-5C>T Single submitter retinitis pigmentosa 59
c.542+11T>G Single submitter retinitis pigmentosa 59
c.542+16T>C Single submitter retinitis pigmentosa 59
c.542+18G>A Single submitter retinitis pigmentosa 59
c.542+20A>G Single submitter retinitis pigmentosa 59
c.542+7C>A Single submitter retinitis pigmentosa 59
c.542+7C>T Single submitter retinitis pigmentosa 59
c.543-10C>G Single submitter retinitis pigmentosa 59
c.543-10C>T Single submitter retinitis pigmentosa 59
c.543-11G>C Single submitter retinitis pigmentosa 59
c.543-11G>T Single submitter retinitis pigmentosa 59
c.543-287T>C Single submitter
c.543-4236G>A Single submitter
c.543-5C>G Single submitter retinitis pigmentosa 59
c.543-7A>G Single submitter retinitis pigmentosa 59
c.543-86A>G Single submitter
c.543-8C>G Single submitter retinitis pigmentosa 59
c.543-9T>C Single submitter retinitis pigmentosa 59
c.63+11del Single submitter retinitis pigmentosa 59
c.63+13C>T Single submitter retinitis pigmentosa 59
c.63+18G>A Single submitter retinitis pigmentosa 59
c.63+19C>T Single submitter retinitis pigmentosa 59
c.63+8A>G Single submitter retinitis pigmentosa 59
c.63+9T>C Single submitter retinitis pigmentosa 59
c.64-11C>T Single submitter retinitis pigmentosa 59
c.64-12C>A Single submitter retinitis pigmentosa 59
c.64-12C>T Single submitter retinitis pigmentosa 59
c.64-19T>C Single submitter retinitis pigmentosa 59
c.64-19T>G Single submitter retinitis pigmentosa 59
c.64-20T>C Single submitter retinitis pigmentosa 59
c.64-6C>T Single submitter retinitis pigmentosa 59
c.64-7T>C Single submitter retinitis pigmentosa 59
c.64-9A>C Single submitter retinitis pigmentosa 59
c.657+11T>G Single submitter retinitis pigmentosa 59
c.657+17T>C Single submitter retinitis pigmentosa 59
c.657+8A>G Single submitter retinitis pigmentosa 59
c.658-11_658-9dup Single submitter retinitis pigmentosa 59
c.658-11A>C Single submitter retinitis pigmentosa 59
c.658-11A>G Single submitter retinitis pigmentosa 59
c.658-11A>T Single submitter retinitis pigmentosa 59
c.658-12T>C Single submitter retinitis pigmentosa 59
c.658-12T>G Single submitter retinitis pigmentosa 59
c.658-17C>T Single submitter retinitis pigmentosa 59
c.658-19T>C Single submitter retinitis pigmentosa 59
c.658-20C>G Single submitter retinitis pigmentosa 59
c.658-5C>G Single submitter retinitis pigmentosa 59
c.658-5C>T Single submitter retinitis pigmentosa 59
c.658-6T>A Single submitter
c.658-8T>C Single submitter retinitis pigmentosa 59
c.658-9C>T Single submitter retinitis pigmentosa 59
c.765+15A>G Single submitter retinitis pigmentosa 59
c.765+18G>T Single submitter retinitis pigmentosa 59
c.765+19C>T Single submitter retinitis pigmentosa 59
c.765+7A>G Single submitter retinitis pigmentosa 59
c.765+7A>T Single submitter retinitis pigmentosa 59
c.765+8A>G Single submitter retinitis pigmentosa 59
c.765+9G>C Single submitter retinitis pigmentosa 59
c.766-10T>C Single submitter retinitis pigmentosa 59
c.766-10T>G Single submitter retinitis pigmentosa 59
c.766-12T>A Single submitter retinitis pigmentosa 59
c.766-13T>A Single submitter retinitis pigmentosa 59
c.766-18C>T Single submitter retinitis pigmentosa 59
c.766-20T>C Single submitter retinitis pigmentosa 59
c.766-6dup Single submitter retinitis pigmentosa 59
c.766-7C>G Single submitter retinitis pigmentosa 59
c.766-8T>C Single submitter retinitis pigmentosa 59
c.-119G>A Single submitter retinitis pigmentosa
c.*623G>A Single submitter retinitis pigmentosa
p.Ala136= Single submitter retinitis pigmentosa 59
p.Ala141= Single submitter retinitis pigmentosa 59
p.Ala155= Single submitter retinitis pigmentosa 59
p.Ala17= Single submitter retinitis pigmentosa 59
p.Ala170= Single submitter retinitis pigmentosa 59
p.Ala288= Single submitter retinitis pigmentosa 59
p.Ala292= Single submitter retinitis pigmentosa 59
p.Ala304= Single submitter retinitis pigmentosa 59
p.Ala326= Single submitter retinitis pigmentosa 59
p.Ala40= Single submitter retinitis pigmentosa 59
p.Ala59= Single submitter retinitis pigmentosa 59
p.Ala77= Single submitter retinitis pigmentosa 59
p.Arg103= Single submitter retinitis pigmentosa 59
p.Arg119= Single submitter retinitis pigmentosa 59
p.Arg14= Single submitter retinitis pigmentosa 59
p.Arg167= Single submitter retinitis pigmentosa 59
p.Arg196= Single submitter retinitis pigmentosa 59
p.Arg205= Single submitter retinitis pigmentosa 59
p.Arg267= Single submitter retinitis pigmentosa 59
p.Arg272= Single submitter retinitis pigmentosa 59
p.Arg283= Single submitter retinitis pigmentosa 59
p.Arg296= Single submitter retinitis pigmentosa 59
p.Arg298= Single submitter retinitis pigmentosa 59
p.Arg305= Single submitter retinitis pigmentosa 59
p.Arg306= Single submitter retinitis pigmentosa 59
p.Arg37= Single submitter retinitis pigmentosa 59
p.Arg47= Single submitter retinitis pigmentosa 59
p.Arg63= Single submitter retinitis pigmentosa 59
p.Arg98= Single submitter retinitis pigmentosa 59
p.Asn146= Single submitter retinitis pigmentosa 59
p.Asn164= Single submitter retinitis pigmentosa 59
p.Asn250= Single submitter retinitis pigmentosa 59
p.Asn36= Single submitter retinitis pigmentosa 59
p.Asn56= Single submitter retinitis pigmentosa 59
p.Asp189= Single submitter retinitis pigmentosa 59
p.Asp201= Single submitter retinitis pigmentosa 59
p.Asp291= Single submitter retinitis pigmentosa 59
p.Asp34= Single submitter retinitis pigmentosa 59
p.Asp91= Single submitter retinitis pigmentosa 59
p.Cys148= Single submitter retinitis pigmentosa 59
p.Cys153= Single submitter retinitis pigmentosa 59
p.Gln112= Single submitter retinitis pigmentosa 59
p.Gln140= Single submitter retinitis pigmentosa 59
p.Gln228= Single submitter retinitis pigmentosa 59
p.Gln246= Single submitter retinitis pigmentosa 59
p.Gln293= Single submitter retinitis pigmentosa 59
p.Gln311= Single submitter retinitis pigmentosa 59
p.Gln44= Single submitter
p.Gln48= Single submitter retinitis pigmentosa 59
p.Glu168= Single submitter retinitis pigmentosa 59
p.Glu234= Single submitter retinitis pigmentosa 59
p.Glu263= Single submitter retinitis pigmentosa 59
p.Glu271= Single submitter retinitis pigmentosa 59
p.Glu279= Single submitter retinitis pigmentosa 59
p.Glu307= Single submitter retinitis pigmentosa 59
p.Glu46= Single submitter retinitis pigmentosa 59
p.Gly115= Single submitter retinitis pigmentosa 59
p.Gly172= Single submitter retinitis pigmentosa 59
p.Gly285= Single submitter retinitis pigmentosa 59
p.Gly329= Single submitter retinitis pigmentosa 59
p.Gly69= Single submitter retinitis pigmentosa 59
p.His160= Single submitter retinitis pigmentosa 59
p.His251= Single submitter retinitis pigmentosa 59
p.His51= Single submitter retinitis pigmentosa 59
p.Ile162= Single submitter retinitis pigmentosa 59
p.Ile183= Single submitter retinitis pigmentosa 59
p.Ile19= Single submitter retinitis pigmentosa 59
p.Ile244= Single submitter retinitis pigmentosa 59
p.Ile4= Single submitter retinitis pigmentosa 59
p.Ile70= Single submitter retinitis pigmentosa 59
p.Leu104= Single submitter retinitis pigmentosa 59
p.Leu11= Single submitter retinitis pigmentosa 59
p.Leu121= Single submitter retinitis pigmentosa 59
p.Leu124= Single submitter retinitis pigmentosa 59
p.Leu129= Single submitter retinitis pigmentosa 59
p.Leu150= Single submitter retinitis pigmentosa 59
p.Leu177= Single submitter retinitis pigmentosa 59
p.Leu178= Single submitter retinitis pigmentosa 59
p.Leu187= Single submitter retinitis pigmentosa 59
p.Leu192= Single submitter retinitis pigmentosa 59
p.Leu216= Single submitter retinitis pigmentosa 59
p.Leu217= Single submitter retinitis pigmentosa 59
p.Leu231= Single submitter retinitis pigmentosa 59
p.Leu240= Single submitter retinitis pigmentosa 59
p.Leu245= Single submitter retinitis pigmentosa 59
p.Leu270= Single submitter retinitis pigmentosa 59
p.Leu281= Single submitter retinitis pigmentosa 59
p.Leu282= Single submitter retinitis pigmentosa 59
p.Leu314= Single submitter retinitis pigmentosa 59
p.Leu317= Single submitter retinitis pigmentosa 59
p.Leu319= Single submitter retinitis pigmentosa 59
p.Leu325= Single submitter retinitis pigmentosa 59
p.Leu62= Single submitter retinitis pigmentosa 59
p.Leu66= Single submitter retinitis pigmentosa 59
p.Leu68= Single submitter retinitis pigmentosa 59
p.Leu71= Single submitter retinitis pigmentosa 59
p.Lys143= Single submitter retinitis pigmentosa 59
p.Lys190= Single submitter retinitis pigmentosa 59
p.Lys27= Single submitter retinitis pigmentosa 59
p.Lys42= Single submitter retinitis pigmentosa 59
p.Lys57= Single submitter retinitis pigmentosa 59
p.Lys87= Single submitter retinitis pigmentosa 59
p.Phe149= Single submitter retinitis pigmentosa 59
p.Phe15= Single submitter retinitis pigmentosa 59
p.Phe237= Single submitter retinitis pigmentosa 59
p.Phe241= Single submitter retinitis pigmentosa 59
p.Phe31= Single submitter retinitis pigmentosa 59
p.Phe313= Single submitter retinitis pigmentosa 59
p.Pro128= Single submitter retinitis pigmentosa 59
p.Pro200= Single submitter retinitis pigmentosa 59
p.Pro229= Single submitter retinitis pigmentosa 59
p.Pro233= Single submitter retinitis pigmentosa 59
p.Pro26= Single submitter retinitis pigmentosa 59
p.Ser2= Single submitter retinitis pigmentosa 59
p.Ser207= Single submitter retinitis pigmentosa 59
p.Ser252= Single submitter retinitis pigmentosa 59
p.Ser303= Single submitter retinitis pigmentosa 59
p.Ser88= Single submitter retinitis pigmentosa 59
p.Thr142= Single submitter retinitis pigmentosa 59
p.Thr220= Single submitter retinitis pigmentosa 59
p.Thr61= Single submitter
p.Tyr145= Single submitter retinitis pigmentosa 59
p.Tyr235= Single submitter retinitis pigmentosa 59
p.Tyr261= Single submitter retinitis pigmentosa 59
p.Tyr39= Single submitter retinitis pigmentosa 59
p.Tyr76= Single submitter retinitis pigmentosa 59
p.Val116= Single submitter retinitis pigmentosa 59
p.Val166= Single submitter retinitis pigmentosa 59
p.Val173= Single submitter retinitis pigmentosa 59
p.Val45= Single submitter retinitis pigmentosa 59
p.Val73= Single submitter retinitis pigmentosa 59
p.Val90= Single submitter retinitis pigmentosa 59

Uncertain significance 277

c.542+6C>A Multiple submitters Inborn genetic diseases
p.Ala292Thr Multiple submitters retinitis pigmentosa 59 ⚠
p.Ala316Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala77Thr Multiple submitters retinitis pigmentosa 59 ⚠
p.Arg103His Multiple submitters developmental delay and seizures with or without movement abnormalities ⚠
p.Arg119Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg159His Multiple submitters retinitis pigmentosa 59 ⚠
p.Arg196Cys Multiple submitters retinitis pigmentosa 59 ⚠
p.Arg196His Multiple submitters retinitis pigmentosa 59 ⚠
p.Arg265Gln Multiple submitters retinitis pigmentosa ⚠
p.Arg265Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg298Cys Multiple submitters retinitis pigmentosa 59 ⚠
p.Arg298Pro Multiple submitters retinitis pigmentosa 59 ⚠
p.Arg306Gln Multiple submitters retinitis pigmentosa ⚠
p.Arg327Cys Multiple submitters retinitis pigmentosa 59 ⚠
p.Arg327His Multiple submitters Inborn genetic diseases ⚠
p.Arg47Trp Multiple submitters retinitis pigmentosa 59 ⚠
p.Arg63Trp Multiple submitters Inborn genetic diseases ⚠
p.Asn18Ser Multiple submitters retinitis pigmentosa ⚠
p.Asn195Thr Multiple submitters retinitis pigmentosa 59 ⚠
p.Asn250Lys Multiple submitters retinitis pigmentosa 59 ⚠
p.Asp123Asn Multiple submitters DHDDS-related disorder ⚠
p.Asp182Gly Multiple submitters retinitis pigmentosa 59 ⚠
p.Asp189Gly Multiple submitters retinitis pigmentosa 59 ⚠
p.Asp273Tyr Multiple submitters developmental delay and seizures with or without movement abnormalities ⚠
p.Asp291Glu Multiple submitters retinitis pigmentosa 59 ⚠
p.Asp323Glu Multiple submitters inherited retinal dystrophy ⚠
p.Cys191Arg Multiple submitters retinitis pigmentosa 59 ⚠
p.Gln140Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln248His Multiple submitters Inborn genetic diseases ⚠
p.Gln53Glu Multiple submitters retinitis pigmentosa ⚠
p.Glu168Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu242Lys Multiple submitters retinitis pigmentosa 59 ⚠
p.Glu307Gln Multiple submitters retinitis pigmentosa 59 ⚠
p.Gly122Ser Multiple submitters retinitis pigmentosa 59 ⚠
p.Gly92Arg Multiple submitters retinitis pigmentosa 59 ⚠
p.His160Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu254Pro Multiple submitters retinitis pigmentosa 59 ⚠
p.Leu281Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu282Pro Multiple submitters retinitis pigmentosa 59 ⚠
p.Leu286Ile Multiple submitters inherited retinal dystrophy ⚠
p.Lys108Arg Multiple submitters retinitis pigmentosa 59 ⚠
p.Lys113Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys147Arg Multiple submitters developmental delay and seizures with or without movement abnormalities ⚠
p.Lys84Arg Multiple submitters retinitis pigmentosa 59 ⚠
p.Met25Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro198Ser Multiple submitters retinitis pigmentosa 59 ⚠
p.Ser332Ter Multiple submitters retinitis pigmentosa 59
p.Thr142Met Multiple submitters retinitis pigmentosa 59 ⚠
p.Thr194Ala Multiple submitters retinitis pigmentosa 59 ⚠
p.Val139Ile Multiple submitters Inborn genetic diseases ⚠
p.Val173Met Multiple submitters developmental delay and seizures with or without movement abnormalities ⚠
p.Val230Ile Multiple submitters Inborn genetic diseases ⚠
c.180+8T>C Single submitter retinitis pigmentosa 59
c.440+6T>C Single submitter retinitis pigmentosa 59
c.542+11T>C Single submitter retinitis pigmentosa 59
c.542+1G>A Single submitter developmental delay and seizures with or without movement abnormalities
c.542+6C>G Single submitter retinitis pigmentosa 59
c.543-3T>C Single submitter retinitis pigmentosa 59
c.63+6C>A Single submitter retinitis pigmentosa 59
c.63+6C>T Single submitter retinitis pigmentosa 59
c.64-3C>T Single submitter retinitis pigmentosa 59
c.765+5G>T Single submitter retinitis pigmentosa 59
c.766-3C>T Single submitter developmental delay and seizures with or without movement abnormalities
c.766-4del Single submitter retinitis pigmentosa 59
c.-143C>T Single submitter retinitis pigmentosa
c.-37G>A Single submitter retinitis pigmentosa
c.-53T>G Single submitter retinitis pigmentosa
c.*109C>T Single submitter retinitis pigmentosa
c.*1261C>T Single submitter retinitis pigmentosa
c.*1343C>T Single submitter retinitis pigmentosa
c.*1431C>T Single submitter retinitis pigmentosa
c.*1439C>G Single submitter retinitis pigmentosa
c.*1464C>T Single submitter retinitis pigmentosa
c.*1497C>T Single submitter retinitis pigmentosa
c.*1571A>C Single submitter retinitis pigmentosa
c.*1574C>T Single submitter retinitis pigmentosa
c.*1705G>A Single submitter retinitis pigmentosa
c.*174G>T Single submitter retinitis pigmentosa
c.*1769G>A Single submitter retinitis pigmentosa
c.*2045T>A Single submitter retinitis pigmentosa
c.*2069A>G Single submitter retinitis pigmentosa
c.*2104A>T Single submitter retinitis pigmentosa
c.*210C>T Single submitter retinitis pigmentosa
c.*226C>G Single submitter retinitis pigmentosa
c.*312C>T Single submitter retinitis pigmentosa
c.*404C>G Single submitter retinitis pigmentosa
c.*433T>C Single submitter retinitis pigmentosa
c.*464T>C Single submitter retinitis pigmentosa
c.*480A>G Single submitter retinitis pigmentosa
c.*515G>T Single submitter retinitis pigmentosa
c.*55C>T Single submitter retinitis pigmentosa
c.*573C>T Single submitter retinitis pigmentosa
c.*620C>T Single submitter retinitis pigmentosa
c.*634G>A Single submitter retinitis pigmentosa
c.*733T>C Single submitter retinitis pigmentosa
c.*737C>A Single submitter retinitis pigmentosa
c.*769G>T Single submitter retinitis pigmentosa
c.*986T>A Single submitter retinitis pigmentosa
c.*988C>T Single submitter retinitis pigmentosa
p.Ala165Val Single submitter inherited retinal dystrophy ⚠
p.Ala17Thr Single submitter retinitis pigmentosa 59 ⚠
p.Ala22Val Single submitter retinitis pigmentosa 59 ⚠
p.Ala316Ser Single submitter retinitis pigmentosa 59 ⚠
p.Ala331Pro Single submitter retinitis pigmentosa 59 ⚠
p.Ala59Val Single submitter retinitis pigmentosa 59 ⚠
p.Ala77Val Single submitter retinitis pigmentosa 59 ⚠
p.Ala97Val Single submitter ⚠
p.Arg103Cys Single submitter retinitis pigmentosa 59 ⚠
p.Arg14Gly Single submitter Inborn genetic diseases ⚠
p.Arg14Trp Single submitter ⚠
p.Arg159Cys Single submitter retinitis pigmentosa 59 ⚠
p.Arg205Trp Single submitter retinitis pigmentosa 59 ⚠
p.Arg211Trp Single submitter retinitis pigmentosa 59 ⚠
p.Arg258fs Single submitter retinitis pigmentosa 59
p.Arg258Gln Single submitter retinitis pigmentosa 59 ⚠
p.Arg283Gln Single submitter retinitis pigmentosa 59 ⚠
p.Arg295Gln Single submitter retinitis pigmentosa 59 ⚠
p.Arg296fs Single submitter
p.Arg306Trp Single submitter retinitis pigmentosa 59 ⚠
p.Arg309Leu Single submitter retinitis pigmentosa 59 ⚠
p.Arg321Gln Single submitter retinitis pigmentosa 59 ⚠
p.Arg321Pro Single submitter retinitis pigmentosa 59 ⚠
p.Arg321Ter Single submitter retinitis pigmentosa 59
p.Arg327Gly Single submitter retinitis pigmentosa 59 ⚠
p.Arg37Leu Single submitter retinitis pigmentosa 59 ⚠
p.Arg63Gln Single submitter retinitis pigmentosa 59 ⚠
p.Arg85His Single submitter retinitis pigmentosa 59 ⚠
p.Arg85Ser Single submitter developmental delay and seizures with or without movement abnormalities ⚠
p.Arg98Gln Single submitter retinitis pigmentosa 59 ⚠
p.Asn146del Single submitter
p.Asn146Lys Single submitter ⚠
p.Asn164Ser Single submitter retinitis pigmentosa 59 ⚠
p.Asn18Lys Single submitter ⚠
p.Asn239Lys Single submitter retinitis pigmentosa 59 ⚠
p.Asn56Ser Single submitter retinitis pigmentosa 59 ⚠
p.Asp130Glu Single submitter retinitis pigmentosa 59 ⚠
p.Asp189His Single submitter retinitis pigmentosa 59 ⚠
p.Asp259Asn Single submitter retinitis pigmentosa ⚠
p.Asp259Gly Single submitter retinitis pigmentosa 59 ⚠
p.Asp273Asn Single submitter retinitis pigmentosa 59 ⚠
p.Asp323Val Single submitter retinitis pigmentosa 59 ⚠
p.Asp91His Single submitter retinitis pigmentosa 59 ⚠
p.Asp95Asn Single submitter ⚠
p.Asp95Gly Single submitter ⚠
p.Cys117Ser Single submitter retinitis pigmentosa 59 ⚠
p.Cys148Tyr Single submitter retinitis pigmentosa 59 ⚠
p.Gln112Arg Single submitter retinitis pigmentosa 59 ⚠
p.Gln137His Single submitter retinitis pigmentosa 59 ⚠
p.Gln228His Single submitter inherited retinal dystrophy ⚠
p.Gln246His Single submitter retinitis pigmentosa 59 ⚠
p.Gln255Arg Single submitter retinitis pigmentosa 59 ⚠
p.Gln269Arg Single submitter ⚠
p.Gln274His Single submitter retinitis pigmentosa 59 ⚠
p.Gln280Pro Single submitter retinitis pigmentosa 59 ⚠
p.Gln315Arg Single submitter ⚠
p.Gln315His Single submitter retinitis pigmentosa 59 ⚠
p.Gln315Leu Single submitter retinitis pigmentosa 59 ⚠
p.Gln44His Single submitter retinitis pigmentosa 59 ⚠
p.Gln48Arg Single submitter retinitis pigmentosa 59 ⚠
p.Gln48His Single submitter retinitis pigmentosa 59 ⚠
p.Glu133Asp Single submitter retinitis pigmentosa 59 ⚠
p.Glu264Asp Single submitter retinitis pigmentosa 59 ⚠
p.Glu264Lys Single submitter Inborn genetic diseases ⚠
p.Glu284Gly Single submitter retinitis pigmentosa 59 ⚠
p.Glu284Ter Single submitter
p.Glu307Lys Single submitter retinitis pigmentosa 59 ⚠
p.Glu8Gln Single submitter retinitis pigmentosa 59 ⚠
p.Gly172Arg Single submitter retinitis pigmentosa 59 ⚠
p.Gly208fs Single submitter
p.Gly208Glu Single submitter retinitis pigmentosa 59 ⚠
p.Gly285Arg Single submitter retinitis pigmentosa 59 ⚠
p.Gly290Ala Single submitter retinitis pigmentosa 59 ⚠
p.Gly290Glu Single submitter ⚠
p.Gly329Ser Single submitter DHDDS-CDG ⚠
p.Gly35Arg Single submitter retinitis pigmentosa 59 ⚠
p.Gly50Ser Single submitter retinitis pigmentosa 59 ⚠
p.Gly54Val Single submitter retinitis pigmentosa 59 ⚠
p.Gly69Ser Single submitter ⚠
p.Gly7Arg Single submitter retinitis pigmentosa 59 ⚠
p.Gly7Glu Single submitter retinitis pigmentosa 59 ⚠
p.His125Arg Single submitter Inborn genetic diseases ⚠
p.His125Tyr Single submitter retinitis pigmentosa 59 ⚠
p.His28Tyr Single submitter developmental delay and seizures with or without movement abnormalities ⚠
p.His300Asn Single submitter retinitis pigmentosa 59 ⚠
p.His300Tyr Single submitter retinitis pigmentosa 59 ⚠
p.Ile135Thr Single submitter retinitis pigmentosa 59 ⚠
p.Ile183Leu Single submitter retinitis pigmentosa 59 ⚠
p.Ile19Ser Single submitter retinitis pigmentosa 59 ⚠
p.Ile202Val Single submitter retinitis pigmentosa 59 ⚠
p.Ile20Val Single submitter retinitis pigmentosa 59 ⚠
p.Ile29Thr Single submitter retinitis pigmentosa 59 ⚠
p.Ile29Val Single submitter retinitis pigmentosa 59 ⚠
p.Ile32Val Single submitter retinitis pigmentosa 59 ⚠
p.Ile70Leu Single submitter retinitis pigmentosa 59 ⚠
p.Ile70Val Single submitter retinitis pigmentosa 59 ⚠
p.Leu126Ser Single submitter retinitis pigmentosa 59 ⚠
p.Leu129Phe Single submitter retinitis pigmentosa 59 ⚠
p.Leu131Phe Single submitter ⚠
p.Leu187Val Single submitter retinitis pigmentosa 59 ⚠
p.Leu217_Gln219del Single submitter
p.Leu231Val Single submitter retinitis pigmentosa 59 ⚠
p.Leu245Val Single submitter retinitis pigmentosa 59 ⚠
p.Leu286Pro Single submitter retinitis pigmentosa 59 ⚠
p.Leu302Phe Single submitter retinitis pigmentosa 59 ⚠
p.Leu328Met Single submitter retinitis pigmentosa 59 ⚠
p.Lys100Arg Single submitter retinitis pigmentosa 59 ⚠
p.Lys100Thr Single submitter retinitis pigmentosa 59 ⚠
p.Lys108Asn Single submitter Inborn genetic diseases ⚠
p.Lys110Glu Single submitter retinitis pigmentosa 59 ⚠
p.Lys21Asn Single submitter developmental delay and seizures with or without movement abnormalities ⚠
p.Lys27Gln Single submitter retinitis pigmentosa 59 ⚠
p.Lys42Arg Single submitter retinitis pigmentosa 59 ⚠
p.Lys57Arg Single submitter inherited retinal dystrophy ⚠
p.Lys5Asn Single submitter retinitis pigmentosa 59 ⚠
p.Lys87Arg Single submitter retinitis pigmentosa 59 ⚠
p.Lys87Glu Single submitter retinitis pigmentosa 59 ⚠
p.Met105Thr Single submitter retinitis pigmentosa 59 ⚠
p.Met169Leu Single submitter retinitis pigmentosa 59 ⚠
p.Met1fs Single submitter retinitis pigmentosa 59
p.Met260Val Single submitter retinitis pigmentosa 59 ⚠
p.Met94Thr Single submitter retinitis pigmentosa 59 ⚠
p.Phe149Leu Single submitter retinitis pigmentosa 59 ⚠
p.Phe149Ser Single submitter retinitis pigmentosa 59 ⚠
p.Phe15Tyr Single submitter retinitis pigmentosa 59 ⚠
p.Phe227Leu Single submitter retinitis pigmentosa 59 ⚠
p.Phe237Cys Single submitter retinitis pigmentosa ⚠
p.Phe237Leu Single submitter developmental delay and seizures with or without movement abnormalities ⚠
p.Phe241Cys Single submitter retinitis pigmentosa 59 ⚠
p.Phe31Leu Single submitter retinitis pigmentosa 59 ⚠
p.Pro180= Single submitter retinitis pigmentosa 59
p.Pro180Arg Single submitter developmental delay and seizures with or without movement abnormalities ⚠
p.Pro229Thr Single submitter ⚠
p.Pro233Ser Single submitter retinitis pigmentosa 59 ⚠
p.Pro26Leu Single submitter retinitis pigmentosa 59 ⚠
p.Ser102Arg Single submitter Inborn genetic diseases ⚠
p.Ser102Asn Single submitter retinitis pigmentosa 59 ⚠
p.Ser184Ala Single submitter retinitis pigmentosa 59 ⚠
p.Ser186Cys Single submitter retinitis pigmentosa 59 ⚠
p.Ser197Cys Single submitter retinitis pigmentosa 59 ⚠
p.Ser207Cys Single submitter retinitis pigmentosa 59 ⚠
p.Ser223Cys Single submitter retinitis pigmentosa 59 ⚠
p.Ser252Arg Single submitter retinitis pigmentosa 59 ⚠
p.Ser289Asn Single submitter ⚠
p.Ser289Ile Single submitter retinitis pigmentosa 59 ⚠
p.Ser303fs Single submitter
p.Ser303Pro Single submitter retinitis pigmentosa 59 ⚠
p.Ser52Leu Single submitter retinitis pigmentosa 59 ⚠
p.Ser79Gly Single submitter Inborn genetic diseases ⚠
p.Ser86Cys Single submitter retinitis pigmentosa 59 ⚠
p.Ser88Gly Single submitter developmental delay and seizures with or without movement abnormalities ⚠
p.Thr142Arg Single submitter retinitis pigmentosa 59 ⚠
p.Thr236Ser Single submitter retinitis pigmentosa 59 ⚠
p.Thr330Asn Single submitter retinitis pigmentosa 59 ⚠
p.Trp171Cys Single submitter retinitis pigmentosa 59 ⚠
p.Trp171Leu Single submitter retinitis pigmentosa 59 ⚠
p.Tyr193Cys Single submitter retinitis pigmentosa 59 ⚠
p.Val166Leu Single submitter retinitis pigmentosa 59 ⚠
p.Val166Met Single submitter retinitis pigmentosa 59 ⚠
p.Val173Ala Single submitter ⚠
p.Val210Met Single submitter retinitis pigmentosa 59 ⚠
c.324-6del No assertion criteria retinitis pigmentosa 59
c.440+3_440+6del No assertion criteria inherited retinal dystrophy
p.Asn195= No assertion criteria retinitis pigmentosa 59
p.Asn56Lys No assertion criteria retinitis pigmentosa 59 ⚠
p.Asp273Glu No assertion criteria retinitis pigmentosa 59 ⚠
p.Gln268= No assertion criteria retinitis pigmentosa 59
p.Glu209Gln No assertion criteria retinitis pigmentosa 59 ⚠
p.Glu308Lys No assertion criteria retinitis pigmentosa 59 ⚠
p.Gly115Arg No assertion criteria retinitis pigmentosa 59 ⚠
p.Gly50= No assertion criteria retinitis pigmentosa 59
p.His251Arg No assertion criteria retinitis pigmentosa 59 ⚠
p.Leu177Gln No assertion criteria retinitis pigmentosa 59 ⚠
p.Leu294= No assertion criteria retinitis pigmentosa 59
p.Leu317Val No assertion criteria retinitis pigmentosa 59 ⚠
p.Ser88Asn No assertion criteria inherited retinal dystrophy ⚠
p.Thr236Ile No assertion criteria retinitis pigmentosa 59 ⚠