AGBL5 — 726 ClinVar variants
All ClinVar germline AGBL5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 374 flagged for review →
26 Pathogenic · 16 Likely pathogenic · 7 Conflicting · 17 Benign · 4 Benign/Likely benign · 249 Likely benign · 407 Uncertain significance
Full AGBL5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 374
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.
-
AGBL5 p.Ala410Val
Conflicting
Single submitter
inherited retinal dystrophy
-
AGBL5 p.Arg217Gln
Conflicting
Single submitter
inherited retinal dystrophy
-
AGBL5 p.Arg276Trp
Conflicting
Single submitter
retinitis pigmentosa 75
-
AGBL5 p.Pro176Leu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 250
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 250
-
AGBL5 p.Ala530Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Ala591Thr
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
AGBL5 p.Arg121His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg147Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg147His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg281His
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
AGBL5 p.Arg313His
Uncertain significance
Multiple submitters
retinitis pigmentosa 75
-
AGBL5 p.Arg489His
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
AGBL5 p.Arg500His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg523Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AGBL5 p.Arg690Gln Uncertain significance Multiple submitters
-
AGBL5 p.Arg699Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg703Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg705Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg713Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg713His
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
AGBL5 p.Arg80Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg813Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg815Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg885Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Asn370His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AGBL5 p.Asn370Ser Uncertain significance Multiple submitters
-
AGBL5 p.Asn535Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Asn657Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Asp359Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Asp702Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Asp702Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Gln868Lys
Uncertain significance
Multiple submitters
retinitis pigmentosa 75
-
AGBL5 p.Glu349Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Gly645Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Gly649Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Gly767Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Gly800Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.His384Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.His624Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AGBL5 p.Ile564Val Uncertain significance Multiple submitters
-
AGBL5 p.Ile746Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Leu203Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Lys734Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Lys876Ile
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
AGBL5 p.Met562Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Met777Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Pro222Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Pro422Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Pro422Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Pro543Leu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
AGBL5 p.Pro714Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Pro812Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Pro812Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Pro856Leu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
AGBL5 p.Ser29Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Ser605Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Ser717Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Ser817Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Ser851Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AGBL5 p.Thr209Met Uncertain significance Multiple submitters
-
AGBL5 p.Thr782Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AGBL5 p.Tyr190Cys Uncertain significance Multiple submitters
-
AGBL5 p.Val552Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Val579Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Val609Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AGBL5 p.Ala154Thr Uncertain significance Single submitter
- AGBL5 p.Ala360Pro Uncertain significance Single submitter
- AGBL5 p.Ala360Val Uncertain significance Single submitter
-
AGBL5 p.Ala368Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Ala381Thr Uncertain significance Single submitter
- AGBL5 p.Ala395Pro Uncertain significance Single submitter
-
AGBL5 p.Ala395Val
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Ala39Val Uncertain significance Single submitter
- AGBL5 p.Ala410Glu Uncertain significance Single submitter
-
AGBL5 p.Ala410Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Ala410Ser Uncertain significance Single submitter
- AGBL5 p.Ala416Ser Uncertain significance Single submitter
- AGBL5 p.Ala428Thr Uncertain significance Single submitter
- AGBL5 p.Ala486Gly Uncertain significance Single submitter
- AGBL5 p.Ala486Val Uncertain significance Single submitter
-
AGBL5 p.Ala565Val
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Ala570Val Uncertain significance Single submitter
- AGBL5 p.Ala648Val Uncertain significance Single submitter
- AGBL5 p.Ala719Gly Uncertain significance Single submitter
- AGBL5 p.Ala834Ser Uncertain significance Single submitter
- AGBL5 p.Ala834Thr Uncertain significance Single submitter
- AGBL5 p.Ala844Thr Uncertain significance Single submitter
- AGBL5 p.Arg118His Uncertain significance Single submitter
-
AGBL5 p.Arg193Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Arg193Leu Uncertain significance Single submitter
- AGBL5 p.Arg204Leu Uncertain significance Single submitter
- AGBL5 p.Arg276Gln Uncertain significance Single submitter
- AGBL5 p.Arg276Pro Uncertain significance Single submitter
- AGBL5 p.Arg281Cys Uncertain significance Single submitter
- AGBL5 p.Arg299Trp Uncertain significance Single submitter
-
AGBL5 p.Arg303Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Arg303His Uncertain significance Single submitter
-
AGBL5 p.Arg313Cys
Uncertain significance
Single submitter
Late-onset cone-rod dystrophy
-
AGBL5 p.Arg500Cys
Uncertain significance
Single submitter
inherited retinal dystrophy
- AGBL5 p.Arg640Gln Uncertain significance Single submitter
-
AGBL5 p.Arg673Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Arg703Gly Uncertain significance Single submitter
-
AGBL5 p.Arg783Gln
Uncertain significance
Single submitter
inherited retinal dystrophy
- AGBL5 p.Arg787Lys Uncertain significance Single submitter
- AGBL5 p.Arg798His Uncertain significance Single submitter
-
AGBL5 p.Arg80Trp
Uncertain significance
Single submitter
inherited retinal dystrophy
- AGBL5 p.Arg815Lys Uncertain significance Single submitter
-
AGBL5 p.Arg835Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Arg840Cys Uncertain significance Single submitter
-
AGBL5 p.Arg863Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGBL5 p.Arg885Gln
Uncertain significance
Single submitter
inherited retinal dystrophy
- AGBL5 p.Asn18Ser Uncertain significance Single submitter
- AGBL5 p.Asn373Ser Uncertain significance Single submitter
- AGBL5 p.Asn385Asp Uncertain significance Single submitter
- AGBL5 p.Asn483Asp Uncertain significance Single submitter
- AGBL5 p.Asn518Ser Uncertain significance Single submitter
- AGBL5 p.Asn520Ile Uncertain significance Single submitter
- AGBL5 p.Asn612Lys Uncertain significance Single submitter
- AGBL5 p.Asn625Asp Uncertain significance Single submitter
- AGBL5 p.Asp295His Uncertain significance Single submitter
-
AGBL5 p.Asp31Glu
Uncertain significance
Single submitter
inherited retinal dystrophy
-
AGBL5 p.Asp31His
Uncertain significance
Single submitter
inherited retinal dystrophy
- AGBL5 p.Asp364Glu Uncertain significance Single submitter
-
AGBL5 p.Asp702His
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Asp742Gly Uncertain significance Single submitter
-
AGBL5 p.Gln226His
Uncertain significance
Single submitter
inherited retinal dystrophy
- AGBL5 p.Gln351His Uncertain significance Single submitter
- AGBL5 p.Gln372Pro Uncertain significance Single submitter
- AGBL5 p.Gln407Arg Uncertain significance Single submitter
- AGBL5 p.Gln701His Uncertain significance Single submitter
- AGBL5 p.Gln706Lys Uncertain significance Single submitter
- AGBL5 p.Gln707Pro Uncertain significance Single submitter
- AGBL5 p.Gln785Glu Uncertain significance Single submitter
- AGBL5 p.Gln785His Uncertain significance Single submitter
-
AGBL5 p.Gln833Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGBL5 p.Glu26Asp
Uncertain significance
Single submitter
inherited retinal dystrophy
-
AGBL5 p.Glu349Asp
Uncertain significance
Single submitter
inherited retinal dystrophy
- AGBL5 p.Glu374Lys Uncertain significance Single submitter
- AGBL5 p.Glu393Gln Uncertain significance Single submitter
- AGBL5 p.Glu414Lys Uncertain significance Single submitter
- AGBL5 p.Glu481Lys Uncertain significance Single submitter
- AGBL5 p.Glu53Asp Uncertain significance Single submitter
- AGBL5 p.Glu816Lys Uncertain significance Single submitter
-
AGBL5 p.Glu821Gln
Uncertain significance
Single submitter
inherited retinal dystrophy
- AGBL5 p.Glu870Asp Uncertain significance Single submitter
- AGBL5 p.Gly36Ala Uncertain significance Single submitter
- AGBL5 p.Gly446Arg Uncertain significance Single submitter
- AGBL5 p.Gly45Ser Uncertain significance Single submitter
- AGBL5 p.Gly499Ser Uncertain significance Single submitter
- AGBL5 p.Gly508Arg Uncertain significance Single submitter
-
AGBL5 p.Gly649Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGBL5 p.Gly693Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Gly716Cys Uncertain significance Single submitter
- AGBL5 p.Gly736Asp Uncertain significance Single submitter
Predictors split 120
The independent predictors disagree with each other — read with care.
-
AGBL5 p.Arg111Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg111His
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
AGBL5 p.Arg147Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg174His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg204His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg299Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg307His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg487Gln
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
AGBL5 p.Arg537His
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
AGBL5 p.Arg598Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg638Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg673Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Arg792Trp
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
AGBL5 p.Arg838Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Asn478Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Glu633Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AGBL5 p.Gly202Arg Benign Multiple submitters
-
AGBL5 p.Gly241Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AGBL5 p.Gly649Asp Benign Multiple submitters
-
AGBL5 p.His339Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.His596Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Leu580Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Lys86Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Phe284Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Pro185Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Pro422Arg
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
AGBL5 p.Pro422Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Ser539Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Ser585Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Ser851Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Tyr504Cys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
AGBL5 p.Tyr76His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Val144Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AGBL5 p.Val321Ile
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
AGBL5 p.Ala240Thr
Conflicting
Single submitter
Inborn genetic diseases
- AGBL5 p.Arg116Leu Uncertain significance Single submitter
- AGBL5 p.Arg118Cys Uncertain significance Single submitter
- AGBL5 p.Arg125Gln Uncertain significance Single submitter
-
AGBL5 p.Arg142Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGBL5 p.Arg174Cys
Uncertain significance
Single submitter
inherited retinal dystrophy
-
AGBL5 p.Arg204Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Arg220Gln Uncertain significance Single submitter
- AGBL5 p.Arg238Cys Uncertain significance Single submitter
- AGBL5 p.Arg238His Uncertain significance Single submitter
- AGBL5 p.Arg271Gln Uncertain significance Single submitter
- AGBL5 p.Arg307Ser Uncertain significance Single submitter
-
AGBL5 p.Arg341His
Uncertain significance
Single submitter
inherited retinal dystrophy
- AGBL5 p.Arg4Cys Uncertain significance Single submitter
- AGBL5 p.Arg4His Uncertain significance Single submitter
-
AGBL5 p.Arg537Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Arg537Pro Uncertain significance Single submitter
- AGBL5 p.Arg549Thr Uncertain significance Single submitter
-
AGBL5 p.Arg598His
Uncertain significance
Single submitter
inherited retinal dystrophy
- AGBL5 p.Arg59Gln Uncertain significance Single submitter
- AGBL5 p.Arg59Leu Uncertain significance Single submitter
- AGBL5 p.Arg601Gln Uncertain significance Single submitter
- AGBL5 p.Arg638Trp Uncertain significance Single submitter
- AGBL5 p.Arg690Trp Uncertain significance Single submitter
- AGBL5 p.Arg705Trp Uncertain significance Single submitter
- AGBL5 p.Arg776Trp Uncertain significance Single submitter
- AGBL5 p.Arg787Met Uncertain significance Single submitter
- AGBL5 p.Arg798Cys Uncertain significance Single submitter
-
AGBL5 p.Arg813Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Asn458Ser Uncertain significance Single submitter
- AGBL5 p.Asn535Lys Uncertain significance Single submitter
- AGBL5 p.Asn588Ser Uncertain significance Single submitter
- AGBL5 p.Asp219Gly Uncertain significance Single submitter
-
AGBL5 p.Asp319Gly
Uncertain significance
Single submitter
inherited retinal dystrophy
-
AGBL5 p.Asp473Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Cys164Trp Uncertain significance Single submitter
- AGBL5 p.Cys213Arg Uncertain significance Single submitter
- AGBL5 p.Gly146Asp Uncertain significance Single submitter
- AGBL5 p.Gly602Asp Uncertain significance Single submitter
- AGBL5 p.Gly679Asp Uncertain significance Single submitter
-
AGBL5 p.His21Tyr
Uncertain significance
Single submitter
inherited retinal dystrophy
-
AGBL5 p.His323Gln
Uncertain significance
Single submitter
inherited retinal dystrophy
-
AGBL5 p.His350Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.His511Arg Uncertain significance Single submitter
- AGBL5 p.His596Arg Uncertain significance Single submitter
- AGBL5 p.Ile564Thr Uncertain significance Single submitter
- AGBL5 p.Ile578Thr Uncertain significance Single submitter
-
AGBL5 p.Leu207Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGBL5 p.Leu266Val
Uncertain significance
Single submitter
inherited retinal dystrophy
- AGBL5 p.Leu784Trp Uncertain significance Single submitter
-
AGBL5 p.Leu852Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGBL5 p.Leu87Val
Uncertain significance
Single submitter
inherited retinal dystrophy
- AGBL5 p.Lys330Arg Uncertain significance Single submitter
- AGBL5 p.Phe268Leu Uncertain significance Single submitter
-
AGBL5 p.Phe555Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Pro180Ser Uncertain significance Single submitter
- AGBL5 p.Pro185Thr Uncertain significance Single submitter
-
AGBL5 p.Pro422His
Uncertain significance
Single submitter
inherited retinal dystrophy
- AGBL5 p.Pro50Leu Uncertain significance Single submitter
- AGBL5 p.Pro544Arg Uncertain significance Single submitter
- AGBL5 p.Pro547Ser Uncertain significance Single submitter
-
AGBL5 p.Pro839His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGBL5 p.Ser103Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Ser160Cys Uncertain significance Single submitter
-
AGBL5 p.Ser30Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Ser353Asn Uncertain significance Single submitter
-
AGBL5 p.Ser539Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGBL5 p.Ser641Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Ser643Asn Uncertain significance Single submitter
- AGBL5 p.Ser654Arg Uncertain significance Single submitter
-
AGBL5 p.Ser658Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Ser818Asn Uncertain significance Single submitter
-
AGBL5 p.Ser824Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Ser826Phe Uncertain significance Single submitter
-
AGBL5 p.Ser857Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AGBL5 p.Ser99Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- AGBL5 p.Thr521Ala Uncertain significance Single submitter
- AGBL5 p.Thr587Ile Uncertain significance Single submitter
- AGBL5 p.Thr644Ile Uncertain significance Single submitter
- AGBL5 p.Thr808Lys Uncertain significance Single submitter
- AGBL5 p.Val136Met Uncertain significance Single submitter
- AGBL5 p.Val140Ile Uncertain significance Single submitter
- AGBL5 p.Val25Ala Uncertain significance Single submitter
- AGBL5 p.Val763Ile Uncertain significance Single submitter
- AGBL5 p.Val79Ile Uncertain significance Single submitter
-
AGBL5 p.Arg341Gly
Uncertain significance
No assertion criteria
inherited retinal dystrophy
All AGBL5 variants
Pathogenic 26
- p.Ala428fs Single submitter
- p.Arg220Ter Single submitter
- p.Arg487Ter Single submitter
- p.Arg549fs Single submitter
- p.Arg560Ter Single submitter
- p.Arg577Ter Single submitter
- p.Arg59Ter Single submitter
- p.Arg601Ter Single submitter
- p.Asn625fs Single submitter
- p.Asp295Asn Single submitter retinitis pigmentosa 75
- p.Gln170Ter Single submitter
- p.Gly202fs Single submitter
- p.Gly264fs Single submitter
- p.His141fs Single submitter
- p.Leu247fs Single submitter
- p.Pro229_Asp230insTer Single submitter
- p.Pro417fs Single submitter
- p.Pro542fs Single submitter
- p.Ser49fs Single submitter
- p.Ser651Ter Single submitter
- p.Trp119Ter Single submitter
- p.Trp403Ter Single submitter
- p.Trp592Ter Single submitter inherited retinal dystrophy
- p.Tyr485Ter Single submitter
- p.Tyr550Ter Single submitter
- p.His596fs No assertion criteria retinitis pigmentosa
Likely pathogenic 16
- c.1535+1G>A Single submitter
- c.1671+1G>T Single submitter
- c.1671+2T>C Single submitter
- c.1874+2_1874+5del Single submitter
- c.2242+1G>A Single submitter retinitis pigmentosa 75
- c.2242+2T>G Single submitter
- c.388-1G>A Single submitter
- p.Arg193Trp Single submitter inherited retinal dystrophy
- p.Asn55Tyr Single submitter
- p.Gln372fs Single submitter inherited retinal dystrophy
- p.Pro540Ser Single submitter inherited retinal dystrophy
- p.Thr419fs Single submitter retinitis pigmentosa 75
- p.Ala107fs No assertion criteria inherited retinal dystrophy
- p.Arg489fs No assertion criteria retinitis pigmentosa 75
- p.Gly105fs No assertion criteria retinitis pigmentosa 75
- p.Pro108Arg No assertion criteria retinitis pigmentosa 75
Conflicting classifications of pathogenicity 7
- p.Ala240Thr Single submitter Inborn genetic diseases ⚠
- p.Ala410Val Single submitter inherited retinal dystrophy ⚠
- p.Arg217Gln Single submitter inherited retinal dystrophy ⚠
- p.Arg276Trp Single submitter retinitis pigmentosa 75 ⚠
- p.Arg489= Single submitter inherited retinal dystrophy
- p.His436= Single submitter inherited retinal dystrophy
- p.Pro176Leu Single submitter Inborn genetic diseases ⚠
Benign 17
- c.1365+7A>G Multiple submitters
- c.2242+11A>G Multiple submitters
- p.Arg840His Multiple submitters
- p.Gly202Arg Multiple submitters ⚠
- p.Gly649Asp Multiple submitters ⚠
- p.Phe260= Multiple submitters
- p.Ser682= Multiple submitters retinitis pigmentosa 75
- p.Ser857= Multiple submitters inherited retinal dystrophy
- c.1536-15G>A Single submitter
- c.2090-18_2090-16del Single submitter
- c.215+20G>A Single submitter
- c.2490-20CT[3] Single submitter
- c.552-9del Single submitter
- c.552-9dup Single submitter
- p.Asp854= Single submitter
- p.Ile848= Single submitter
- p.Tyr315= Single submitter
Benign/Likely benign 4
- p.Arg792Gln Multiple submitters retinitis pigmentosa 75
- p.Arg813Gln Multiple submitters inherited retinal dystrophy
- p.Leu852= Multiple submitters
- p.Val695Ile Multiple submitters
Likely benign 249
- p.Ala842= Multiple submitters inherited retinal dystrophy
- p.Leu754= Multiple submitters inherited retinal dystrophy
- p.Pro176= Multiple submitters
- p.Pro796= Multiple submitters
- p.Pro807= Multiple submitters
- c.1365+16del Single submitter
- c.1365+20C>T Single submitter
- c.1366-10C>T Single submitter
- c.1366-15T>C Single submitter
- c.1366-5A>C Single submitter
- c.1366-5A>T Single submitter
- c.1535+20A>G Single submitter
- c.1535+7T>G Single submitter
- c.1536-20T>G Single submitter
- c.1671+14G>A Single submitter
- c.1671+14G>C Single submitter
- c.1671+15T>C Single submitter
- c.1671+17dup Single submitter
- c.1671+23_1671+24insAAAAAGTGG Single submitter
- c.1671+7A>G Single submitter
- c.1672-7C>T Single submitter
- c.1874+16T>C Single submitter
- c.1874+18G>T Single submitter
- c.1874+20_1874+22del Single submitter
- c.1875-18G>A Single submitter
- c.1875-4G>T Single submitter
- c.2089+26A>G Single submitter
- c.2090-17G>C Single submitter
- c.2090-7del Single submitter
- c.215+10A>T Single submitter
- c.215+11C>T Single submitter
- c.215+17G>A Single submitter
- c.215+7G>A Single submitter
- c.216-14dup Single submitter
- c.216-15T>C Single submitter
- c.216-5C>G Single submitter
- c.216-5C>T Single submitter
- c.216-9G>C Single submitter
- c.2242+10_2242+11inv Single submitter
- c.2242+15_2242+20del Single submitter
- c.2242+17A>G Single submitter
- c.2242+9C>G Single submitter
- c.2243-13C>T Single submitter
- c.2243-16T>G Single submitter
- c.2356-15A>G Single submitter
- c.2356-19G>A Single submitter
- c.2356-20C>G Single submitter
- c.2356-20C>T Single submitter
- c.2489+12G>T Single submitter
- c.2489+8C>T Single submitter
- c.2490-11T>C Single submitter
- c.2490-14C>T Single submitter
- c.2490-15T>C Single submitter
- c.387+12A>C Single submitter
- c.388-16C>T Single submitter
- c.388-9G>C Single submitter
- c.551+10C>G Single submitter
- c.551+18A>G Single submitter
- c.551+19C>T Single submitter
- c.551+7G>A Single submitter
- c.552-12T>C Single submitter
- c.552-15T>C Single submitter
- c.552-20T>C Single submitter
- c.552-6del Single submitter
- c.552-7C>T Single submitter
- c.552-9T>C Single submitter
- c.729+12T>C Single submitter
- c.730-11C>T Single submitter
- c.730-13_730-11del Single submitter
- c.730-9C>T Single submitter
- c.908+16A>G Single submitter
- c.908+18C>A Single submitter
- p.Ala320= Single submitter
- p.Ala329= Single submitter
- p.Ala368= Single submitter
- p.Ala386= Single submitter
- p.Ala39= Single submitter
- p.Ala410= Single submitter
- p.Ala486= Single submitter
- p.Ala506= Single submitter
- p.Ala530= Single submitter
- p.Ala570= Single submitter
- p.Ala648= Single submitter
- p.Ala834= Single submitter
- p.Ala844= Single submitter
- p.Arg111= Single submitter
- p.Arg142= Single submitter
- p.Arg276= Single submitter
- p.Arg560= Single submitter
- p.Arg577= Single submitter
- p.Arg638= Single submitter
- p.Arg673= Single submitter
- p.Arg703= Single submitter
- p.Arg80= Single submitter
- p.Arg815= Single submitter
- p.Arg838= Single submitter
- p.Arg885= Single submitter
- p.Asn370= Single submitter
- p.Asn385= Single submitter
- p.Asn400= Single submitter
- p.Asn468= Single submitter
- p.Asn483= Single submitter
- p.Asn573= Single submitter
- p.Asn91= Single submitter
- p.Asn96= Single submitter
- p.Asp172= Single submitter
- p.Asp219= Single submitter
- p.Asp274= Single submitter
- p.Asp359= Single submitter
- p.Asp451= Single submitter
- p.Asp473= Single submitter
- p.Asp51= Single submitter
- p.Asp702= Single submitter
- p.Asp742= Single submitter
- p.Asp758= Single submitter
- p.Cys156= Single submitter
- p.Cys213= Single submitter
- p.Cys377= Single submitter
- p.Cys779= Single submitter
- p.Cys825= Single submitter
- p.Gln134= Single submitter
- p.Gln314= Single submitter
- p.Gln372= Single submitter
- p.Gln376= Single submitter
- p.Gln376His Single submitter Inborn genetic diseases
- p.Gln493= Single submitter
- p.Glu194= Single submitter
- p.Glu349= Single submitter
- p.Glu481= Single submitter
- p.Glu816= Single submitter
- p.Gly105= Single submitter
- p.Gly264= Single submitter
- p.Gly37= Single submitter
- p.Gly411Glu Single submitter Inborn genetic diseases
- p.Gly446= Single submitter
- p.Gly508= Single submitter
- p.Gly6= Single submitter
- p.Gly602= Single submitter
- p.Gly671= Single submitter
- p.Gly681= Single submitter
- p.Gly693= Single submitter
- p.Gly728= Single submitter
- p.Gly736= Single submitter
- p.Gly757= Single submitter
- p.Gly772= Single submitter
- p.Gly791= Single submitter
- p.His21= Single submitter
- p.His434= Single submitter
- p.His583= Single submitter
- p.His596= Single submitter
- p.His689= Single submitter
- p.His733= Single submitter
- p.Ile326= Single submitter
- p.Ile780= Single submitter
- p.Ile90= Single submitter
- p.Leu113= Single submitter
- p.Leu168= Single submitter
- p.Leu227= Single submitter
- p.Leu342= Single submitter
- p.Leu356= Single submitter
- p.Leu580= Single submitter
- p.Leu594= Single submitter
- p.Leu636= Single submitter
- p.Leu735= Single submitter
- p.Leu771= Single submitter
- p.Leu784= Single submitter
- p.Leu790= Single submitter
- p.Leu8= Single submitter
- p.Leu820= Single submitter
- p.Leu831= Single submitter
- p.Leu880= Single submitter
- p.Leu9= Single submitter
- p.Lys439= Single submitter
- p.Lys614= Single submitter
- p.Lys622= Single submitter
- p.Phe143= Single submitter
- p.Phe153= Single submitter
- p.Phe159= Single submitter
- p.Phe239= Single submitter
- p.Phe284= Single submitter
- p.Phe286= Single submitter
- p.Phe472= Single submitter
- p.Phe474= Single submitter
- p.Phe642= Single submitter
- p.Phe845= Single submitter
- p.Pro117= Single submitter
- p.Pro158= Single submitter
- p.Pro294= Single submitter
- p.Pro324= Single submitter
- p.Pro417= Single submitter
- p.Pro421= Single submitter
- p.Pro422= Single submitter
- p.Pro543= Single submitter
- p.Pro544= Single submitter
- p.Pro574= Single submitter
- p.Pro628= Single submitter
- p.Pro628Leu Single submitter
- p.Pro674= Single submitter
- p.Pro694= Single submitter
- p.Pro832= Single submitter
- p.Pro839= Single submitter
- p.Pro847= Single submitter
- p.Pro856= Single submitter
- p.Pro875= Single submitter
- p.Pro884= Single submitter
- p.Ser16= Single submitter
- p.Ser340= Single submitter
- p.Ser346= Single submitter
- p.Ser353= Single submitter
- p.Ser409= Single submitter
- p.Ser469= Single submitter
- p.Ser494= Single submitter
- p.Ser498= Single submitter
- p.Ser539= Single submitter
- p.Ser632= Single submitter
- p.Ser651= Single submitter
- p.Ser654= Single submitter
- p.Ser658= Single submitter
- p.Ser664= Single submitter
- p.Ser721= Single submitter
- p.Ser750= Single submitter
- p.Ser78= Single submitter
- p.Ser794= Single submitter
- p.Ser855= Single submitter
- p.Thr133= Single submitter
- p.Thr209= Single submitter
- p.Thr514= Single submitter
- p.Thr521= Single submitter
- p.Thr635= Single submitter
- p.Thr644= Single submitter
- p.Thr725= Single submitter
- p.Thr725Ala Single submitter Inborn genetic diseases
- p.Thr773= Single submitter
- p.Thr811= Single submitter
- p.Tyr335= Single submitter
- p.Tyr430= Single submitter
- p.Tyr445= Single submitter
- p.Tyr485= Single submitter
- p.Tyr504= Single submitter
- p.Tyr52= Single submitter
- p.Tyr550= Single submitter
- p.Val427= Single submitter
- p.Val456= Single submitter
- p.Val695= Single submitter
- p.Val763= Single submitter
- p.Val79= Single submitter
- p.Val874= Single submitter
- c.2089+35C>T No assertion criteria AGBL5-related disorder
- c.-2C>T No assertion criteria AGBL5-related disorder
Uncertain significance 407
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala530Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala591Thr Multiple submitters inherited retinal dystrophy ⚠
- p.Arg111Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg111His Multiple submitters inherited retinal dystrophy ⚠
- p.Arg121His Multiple submitters Inborn genetic diseases ⚠
- p.Arg147Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg147Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg147His Multiple submitters Inborn genetic diseases ⚠
- p.Arg174His Multiple submitters Inborn genetic diseases ⚠
- p.Arg204His Multiple submitters Inborn genetic diseases ⚠
- p.Arg281His Multiple submitters retinitis pigmentosa ⚠
- p.Arg299Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg307His Multiple submitters Inborn genetic diseases ⚠
- p.Arg313His Multiple submitters retinitis pigmentosa 75 ⚠
- p.Arg487Gln Multiple submitters inherited retinal dystrophy ⚠
- p.Arg489His Multiple submitters inherited retinal dystrophy ⚠
- p.Arg500His Multiple submitters Inborn genetic diseases ⚠
- p.Arg523Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg537His Multiple submitters inherited retinal dystrophy ⚠
- p.Arg598Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg638Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg673Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg690Gln Multiple submitters ⚠
- p.Arg699Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg703Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg705Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg713Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg713His Multiple submitters inherited retinal dystrophy ⚠
- p.Arg792Trp Multiple submitters inherited retinal dystrophy ⚠
- p.Arg80Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg813Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg815Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg838Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg885Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn370His Multiple submitters Inborn genetic diseases ⚠
- p.Asn370Ser Multiple submitters ⚠
- p.Asn478Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn535Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn625= Multiple submitters
- p.Asn657Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp359Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp702Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp702Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln868Lys Multiple submitters retinitis pigmentosa 75 ⚠
- p.Glu349Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu633Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly241Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly645Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly649Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly767Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly800Glu Multiple submitters Inborn genetic diseases ⚠
- p.His339Arg Multiple submitters Inborn genetic diseases ⚠
- p.His384Pro Multiple submitters Inborn genetic diseases ⚠
- p.His596Leu Multiple submitters Inborn genetic diseases ⚠
- p.His624Gln Multiple submitters Inborn genetic diseases ⚠
- p.Ile564Val Multiple submitters ⚠
- p.Ile746Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu203Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu580Pro Multiple submitters Inborn genetic diseases ⚠
- p.Lys734Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys86Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys876Ile Multiple submitters inherited retinal dystrophy ⚠
- p.Met562Leu Multiple submitters Inborn genetic diseases ⚠
- p.Met777Thr Multiple submitters Inborn genetic diseases ⚠
- p.Phe284Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro185Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro222Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro422Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro422Arg Multiple submitters inherited retinal dystrophy ⚠
- p.Pro422Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro422Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro543Leu Multiple submitters inherited retinal dystrophy ⚠
- p.Pro714Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro812Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro812Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro856Leu Multiple submitters inherited retinal dystrophy ⚠
- p.Ser29Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser539Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser585Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser605Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser654del Multiple submitters inherited retinal dystrophy
- p.Ser717Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser817Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser851Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser851Cys Multiple submitters Inborn genetic diseases ⚠
- p.Thr209Met Multiple submitters ⚠
- p.Thr782Ala Multiple submitters Inborn genetic diseases ⚠
- p.Tyr190Cys Multiple submitters ⚠
- p.Tyr504Cys Multiple submitters inherited retinal dystrophy ⚠
- p.Tyr76His Multiple submitters Inborn genetic diseases ⚠
- p.Val144Met Multiple submitters Inborn genetic diseases ⚠
- p.Val321Ile Multiple submitters inherited retinal dystrophy ⚠
- p.Val552Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val579Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val609Met Multiple submitters Inborn genetic diseases ⚠
- c.1365+10C>G Single submitter
- c.1535+18A>G Single submitter
- c.1536-8T>G Single submitter
- c.2089+1G>C Single submitter
- c.2090-2dup Single submitter
- c.215+4T>C Single submitter
- c.215+5A>G Single submitter
- c.2243-1G>A Single submitter
- c.2355+4A>G Single submitter
- c.2356-12_2356-11del Single submitter
- c.2356-3C>A Single submitter
- c.2489+4A>G Single submitter
- c.2490-19_2490-18delinsAT Single submitter
- c.2490-2A>C Single submitter
- c.2490-2A>G Single submitter inherited retinal dystrophy
- c.2490-3C>T Single submitter
- c.551+5C>A Single submitter
- c.909-3C>T Single submitter
- p.Ala154Thr Single submitter ⚠
- p.Ala360Pro Single submitter ⚠
- p.Ala360Val Single submitter ⚠
- p.Ala368Gly Single submitter Inborn genetic diseases ⚠
- p.Ala381Thr Single submitter ⚠
- p.Ala395Pro Single submitter ⚠
- p.Ala395Val Single submitter Inborn genetic diseases ⚠
- p.Ala39Val Single submitter ⚠
- p.Ala410Glu Single submitter ⚠
- p.Ala410Gly Single submitter Inborn genetic diseases ⚠
- p.Ala410Ser Single submitter ⚠
- p.Ala416Ser Single submitter ⚠
- p.Ala428Thr Single submitter ⚠
- p.Ala486Gly Single submitter ⚠
- p.Ala486Val Single submitter ⚠
- p.Ala565Val Single submitter Inborn genetic diseases ⚠
- p.Ala570Val Single submitter ⚠
- p.Ala648Val Single submitter ⚠
- p.Ala719Gly Single submitter ⚠
- p.Ala730_Leu735del Single submitter
- p.Ala834Ser Single submitter ⚠
- p.Ala834Thr Single submitter ⚠
- p.Ala844Thr Single submitter ⚠
- p.Arg116Leu Single submitter ⚠
- p.Arg118Cys Single submitter ⚠
- p.Arg118His Single submitter ⚠
- p.Arg125Gln Single submitter ⚠
- p.Arg142Cys Single submitter Inborn genetic diseases ⚠
- p.Arg174Cys Single submitter inherited retinal dystrophy ⚠
- p.Arg193Gln Single submitter Inborn genetic diseases ⚠
- p.Arg193Leu Single submitter ⚠
- p.Arg204Cys Single submitter Inborn genetic diseases ⚠
- p.Arg204Leu Single submitter ⚠
- p.Arg220Gln Single submitter ⚠
- p.Arg238Cys Single submitter ⚠
- p.Arg238His Single submitter ⚠
- p.Arg271Gln Single submitter ⚠
- p.Arg276Gln Single submitter ⚠
- p.Arg276Pro Single submitter ⚠
- p.Arg281Cys Single submitter ⚠
- p.Arg299Trp Single submitter ⚠
- p.Arg303Cys Single submitter Inborn genetic diseases ⚠
- p.Arg303His Single submitter ⚠
- p.Arg307Ser Single submitter ⚠
- p.Arg313Cys Single submitter Late-onset cone-rod dystrophy ⚠
- p.Arg341His Single submitter inherited retinal dystrophy ⚠
- p.Arg4Cys Single submitter ⚠
- p.Arg4His Single submitter ⚠
- p.Arg500Cys Single submitter inherited retinal dystrophy ⚠
- p.Arg537Cys Single submitter Inborn genetic diseases ⚠
- p.Arg537Pro Single submitter ⚠
- p.Arg549Thr Single submitter ⚠
- p.Arg598His Single submitter inherited retinal dystrophy ⚠
- p.Arg59Gln Single submitter ⚠
- p.Arg59Leu Single submitter ⚠
- p.Arg601Gln Single submitter ⚠
- p.Arg638Trp Single submitter ⚠
- p.Arg640Gln Single submitter ⚠
- p.Arg673Pro Single submitter Inborn genetic diseases ⚠
- p.Arg690Trp Single submitter ⚠
- p.Arg703Gly Single submitter ⚠
- p.Arg705Trp Single submitter ⚠
- p.Arg776Trp Single submitter ⚠
- p.Arg783Gln Single submitter inherited retinal dystrophy ⚠
- p.Arg783Ter Single submitter
- p.Arg787Lys Single submitter ⚠
- p.Arg787Met Single submitter ⚠
- p.Arg798Cys Single submitter ⚠
- p.Arg798His Single submitter ⚠
- p.Arg80Trp Single submitter inherited retinal dystrophy ⚠
- p.Arg813fs Single submitter
- p.Arg813Trp Single submitter Inborn genetic diseases ⚠
- p.Arg815Lys Single submitter ⚠
- p.Arg835Lys Single submitter Inborn genetic diseases ⚠
- p.Arg840Cys Single submitter ⚠
- p.Arg863Ser Single submitter Inborn genetic diseases ⚠
- p.Arg885Gln Single submitter inherited retinal dystrophy ⚠
- p.Asn18Ser Single submitter ⚠
- p.Asn373Ser Single submitter ⚠
- p.Asn385Asp Single submitter ⚠
- p.Asn458Ser Single submitter ⚠
- p.Asn483Asp Single submitter ⚠
- p.Asn518Ser Single submitter ⚠
- p.Asn520Ile Single submitter ⚠
- p.Asn535Lys Single submitter ⚠
- p.Asn588Ser Single submitter ⚠
- p.Asn612= Single submitter
- p.Asn612Lys Single submitter ⚠
- p.Asn625Asp Single submitter ⚠
- p.Asp219Gly Single submitter ⚠
- p.Asp295His Single submitter ⚠
- p.Asp319Gly Single submitter inherited retinal dystrophy ⚠
- p.Asp31Glu Single submitter inherited retinal dystrophy ⚠
- p.Asp31His Single submitter inherited retinal dystrophy ⚠
- p.Asp364Glu Single submitter ⚠
- p.Asp473Asn Single submitter Inborn genetic diseases ⚠
- p.Asp702fs Single submitter
- p.Asp702His Single submitter Inborn genetic diseases ⚠
- p.Asp742Gly Single submitter ⚠
- p.Cys164Trp Single submitter ⚠
- p.Cys213Arg Single submitter ⚠
- p.Cys532= Single submitter inherited retinal dystrophy
- p.Cys631del Single submitter
- p.Gln226His Single submitter inherited retinal dystrophy ⚠
- p.Gln351His Single submitter ⚠
- p.Gln372Pro Single submitter ⚠
- p.Gln407Arg Single submitter ⚠
- p.Gln701His Single submitter ⚠
- p.Gln701Ter Single submitter
- p.Gln706Lys Single submitter ⚠
- p.Gln707Pro Single submitter ⚠
- p.Gln785Glu Single submitter ⚠
- p.Gln785His Single submitter ⚠
- p.Gln833Arg Single submitter Inborn genetic diseases ⚠
- p.Glu26Asp Single submitter inherited retinal dystrophy ⚠
- p.Glu349Asp Single submitter inherited retinal dystrophy ⚠
- p.Glu374Lys Single submitter ⚠
- p.Glu393Gln Single submitter ⚠
- p.Glu414Lys Single submitter ⚠
- p.Glu424= Single submitter inherited retinal dystrophy
- p.Glu481del Single submitter
- p.Glu481Lys Single submitter ⚠
- p.Glu53Asp Single submitter ⚠
- p.Glu816Lys Single submitter ⚠
- p.Glu821Gln Single submitter inherited retinal dystrophy ⚠
- p.Glu870Asp Single submitter ⚠
- p.Gly146Asp Single submitter ⚠
- p.Gly36Ala Single submitter ⚠
- p.Gly446Arg Single submitter ⚠
- p.Gly45Ser Single submitter ⚠
- p.Gly499Ser Single submitter ⚠
- p.Gly508Arg Single submitter ⚠
- p.Gly602Asp Single submitter ⚠
- p.Gly649Val Single submitter Inborn genetic diseases ⚠
- p.Gly679Asp Single submitter ⚠
- p.Gly693Ser Single submitter Inborn genetic diseases ⚠
- p.Gly716Cys Single submitter ⚠
- p.Gly736Asp Single submitter ⚠
- p.Gly767Arg Single submitter ⚠
- p.Gly7Arg Single submitter ⚠
- p.Gly81Arg Single submitter ⚠
- p.Gly85Arg Single submitter ⚠
- p.Gly864Asp Single submitter inherited retinal dystrophy ⚠
- p.His182Gln Single submitter ⚠
- p.His21Tyr Single submitter inherited retinal dystrophy ⚠
- p.His323Gln Single submitter inherited retinal dystrophy ⚠
- p.His350Tyr Single submitter Inborn genetic diseases ⚠
- p.His434Tyr Single submitter
- p.His511Arg Single submitter ⚠
- p.His533Arg Single submitter Inborn genetic diseases ⚠
- p.His596Arg Single submitter ⚠
- p.His670Asp Single submitter Inborn genetic diseases ⚠
- p.Ile210Thr Single submitter ⚠
- p.Ile326Val Single submitter ⚠
- p.Ile465Asn Single submitter ⚠
- p.Ile509Val Single submitter ⚠
- p.Ile564Thr Single submitter ⚠
- p.Ile578Thr Single submitter ⚠
- p.Ile780Val Single submitter ⚠
- p.Ile848Val Single submitter ⚠
- p.Leu207Val Single submitter Inborn genetic diseases ⚠
- p.Leu266Val Single submitter inherited retinal dystrophy ⚠
- p.Leu292Ser Single submitter inherited retinal dystrophy ⚠
- p.Leu322= Single submitter inherited retinal dystrophy
- p.Leu365Val Single submitter ⚠
- p.Leu433Arg Single submitter ⚠
- p.Leu594Pro Single submitter ⚠
- p.Leu627Ser Single submitter ⚠
- p.Leu718Val Single submitter ⚠
- p.Leu753= Single submitter inherited retinal dystrophy
- p.Leu754Ser Single submitter ⚠
- p.Leu770Arg Single submitter ⚠
- p.Leu784Trp Single submitter ⚠
- p.Leu820Val Single submitter ⚠
- p.Leu852Ile Single submitter Inborn genetic diseases ⚠
- p.Leu87Val Single submitter inherited retinal dystrophy ⚠
- p.Lys242Asn Single submitter inherited retinal dystrophy ⚠
- p.Lys330Arg Single submitter ⚠
- p.Lys613Glu Single submitter ⚠
- p.Lys89Arg Single submitter ⚠
- p.Met459Thr Single submitter ⚠
- p.Met661Val Single submitter ⚠
- p.Met764Ile Single submitter ⚠
- p.Met777Arg Single submitter ⚠
- p.Met777Leu Single submitter ⚠
- p.Phe152Tyr Single submitter ⚠
- p.Phe245Leu Single submitter ⚠