Sugi Variant

Sugi Variant/CRX

CRX — 514 ClinVar variants

All ClinVar germline CRX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 158 flagged for review →

69 Pathogenic · 16 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 38 Conflicting · 46 Benign · 24 Benign/Likely benign · 82 Likely benign · 212 Uncertain significance

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

⚑ Evidence disagreements 158

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 9

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

Predictors lean, ClinVar uncertain 88

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

Predictors split 61

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

All CRX variants

Pathogenic 69

  • p.Arg43Cys Multiple submitters cone-rod dystrophy 2
  • p.Gln175Ter Multiple submitters cone-rod dystrophy 2
  • p.Glu80Ala Multiple submitters cone-rod dystrophy 2
  • p.Pro197fs Multiple submitters Leber congenital amaurosis 7
  • p.Ser182Ter Multiple submitters cone-rod dystrophy 2
  • p.Ser206fs Multiple submitters inherited retinal dystrophy
  • c.100+2T>G Single submitter Leber congenital amaurosis 7
  • c.101-1G>T Single submitter cone-rod dystrophy 2
  • c.252+2T>G Single submitter cone-rod dystrophy 2
  • p.Ala158fs Single submitter cone-rod dystrophy 2
  • p.Ala166_Ser167insTer Single submitter Leber congenital amaurosis 7
  • p.Ala177fs Single submitter cone-rod dystrophy 2
  • p.Ala181fs Single submitter Leber congenital amaurosis 7
  • p.Ala189fs Single submitter Leber congenital amaurosis 7
  • p.Ala196fs Single submitter cone-rod dystrophy 2
  • p.Ala198fs Single submitter Leber congenital amaurosis 7
  • p.Ala200fs Single submitter cone-rod dystrophy 2
  • p.Ala59fs Single submitter Leber congenital amaurosis 7
  • p.Arg37fs Single submitter cone-rod dystrophy 2
  • p.Asp140fs Single submitter Leber congenital amaurosis 7
  • p.Cys202fs Single submitter cone-rod dystrophy 2
  • p.Cys202Ter Single submitter cone-rod dystrophy 2
  • p.Gln105Ter Single submitter inherited retinal dystrophy
  • p.Gln39_Glu42del Single submitter Leber congenital amaurosis 7
  • p.Gln97Ter Single submitter cone-rod dystrophy 2
  • p.Glu168fs Single submitter cone-rod dystrophy 2
  • p.Glu53fs Single submitter Leber congenital amaurosis 7
  • p.Glu80Gly Single submitter inherited retinal dystrophy
  • p.Glu80Lys Single submitter Leber congenital amaurosis 7
  • p.Gly110fs Single submitter cone-rod dystrophy 2
  • p.Gly122fs Single submitter Leber congenital amaurosis 7
  • p.Gly148fs Single submitter Leber congenital amaurosis
  • p.Gly217fs Single submitter Leber congenital amaurosis 7
  • p.Gly231fs Single submitter Leber congenital amaurosis 7
  • p.Gly239fs Single submitter cone-rod dystrophy 2
  • p.Leu171fs Single submitter cone-rod dystrophy 2
  • p.Leu179fs Single submitter Leber congenital amaurosis 7
  • p.Leu186fs Single submitter cone-rod dystrophy 2
  • p.Leu51fs Single submitter cone-rod dystrophy 2
  • p.Met26fs Single submitter cone-rod dystrophy 2
  • p.Phe87_Lys88insTer Single submitter Leber congenital amaurosis 7
  • p.Pro108fs Single submitter cone-rod dystrophy 2
  • p.Pro165fs Single submitter cone-rod dystrophy 2
  • p.Pro170fs Single submitter cone-rod dystrophy 2
  • p.Pro184fs Single submitter Leber congenital amaurosis 7
  • p.Pro190fs Single submitter Leber congenital amaurosis 7
  • p.Pro244fs Single submitter cone-rod dystrophy 2
  • p.Ser128fs Single submitter Leber congenital amaurosis 7
  • p.Ser150fs Single submitter
  • p.Ser185fs Single submitter Leber congenital amaurosis 7
  • p.Ser199fs Single submitter Leber congenital amaurosis 7
  • p.Ser252fs Single submitter Leber congenital amaurosis 7
  • p.Thr251fs Single submitter Leber congenital amaurosis 7
  • p.Thr44fs Single submitter Leber congenital amaurosis 7
  • p.Trp163Ter Single submitter Leber congenital amaurosis 7
  • p.Trp86Ter Single submitter cone-rod dystrophy 2
  • p.Tyr142Ter Single submitter cone-rod dystrophy 2
  • p.Tyr191fs Single submitter cone-rod dystrophy 2
  • p.Tyr208Ter Single submitter cone-rod dystrophy 2
  • p.Tyr221fs Single submitter cone-rod dystrophy 2
  • p.Tyr32fs Single submitter cone-rod dystrophy 2
  • p.Arg41Trp No assertion criteria inherited retinal dystrophy
  • p.Gln175fs No assertion criteria Leber congenital amaurosis 7
  • p.Gly151fs No assertion criteria Leber congenital amaurosis 7
  • p.Pro153fs No assertion criteria Leber congenital amaurosis 7
  • p.Pro64fs No assertion criteria Leber congenital amaurosis 7
  • p.Ser188fs No assertion criteria inherited retinal dystrophy
  • p.Thr273fs No assertion criteria inherited retinal dystrophy
  • p.Tyr195Ter No assertion criteria Leber congenital amaurosis 7

Pathogenic/Likely pathogenic 16

  • c.100+3_100+5delinsTTA Multiple submitters cone-rod dystrophy 2
  • c.101-1G>A Multiple submitters inherited retinal dystrophy
  • p.Arg40Gln Multiple submitters cone-rod dystrophy 2
  • p.Arg40Trp Multiple submitters inherited retinal dystrophy
  • p.Arg41Gln Multiple submitters Inborn genetic diseases
  • p.Arg43His Multiple submitters cone-rod dystrophy 2
  • p.Arg69Cys Multiple submitters inherited retinal dystrophy
  • p.Arg69His Multiple submitters inherited retinal dystrophy
  • p.Arg90Trp Multiple submitters inherited retinal dystrophy
  • p.Arg98Ter Multiple submitters Leber congenital amaurosis 7
  • p.Gln228Ter Multiple submitters retinitis pigmentosa
  • p.Gln256Ter Multiple submitters cone-rod dystrophy 2
  • p.Lys88Arg Multiple submitters Leber congenital amaurosis 7
  • p.Pro135fs Multiple submitters Leber congenital amaurosis 7
  • p.Pro144fs Multiple submitters inherited retinal dystrophy
  • p.Ser150Ter Multiple submitters benign concentric annular macular dystrophy

Likely pathogenic 27

Conflicting classifications of pathogenicity 38

Benign 46

Benign/Likely benign 24

  • c.*1220G>A Multiple submitters retinitis pigmentosa
  • c.*19C>T Multiple submitters Leber congenital amaurosis 7
  • c.*2017C>T Multiple submitters retinitis pigmentosa
  • c.*2299C>T Multiple submitters cone-rod dystrophy 2
  • c.*2758C>A Multiple submitters Leber congenital amaurosis 7
  • p.Ala158Thr Multiple submitters inherited retinal dystrophy
  • p.Glu71= Multiple submitters inherited retinal dystrophy
  • p.Gly122Asp Multiple submitters inherited retinal dystrophy
  • p.Pro184Leu Multiple submitters Leber congenital amaurosis 7
  • p.Ser206= Multiple submitters inherited retinal dystrophy
  • p.Ser34= Multiple submitters Leber congenital amaurosis 7
  • p.Val242Met Multiple submitters cone-rod dystrophy 2
  • p.Val66Ile Multiple submitters inherited retinal dystrophy
  • c.-39G>C Single submitter cone-rod dystrophy 2
  • c.*1063C>T Single submitter retinitis pigmentosa
  • c.*1671G>A Single submitter retinitis pigmentosa
  • c.*1961G>A Single submitter cone-rod dystrophy 2
  • c.*2375G>A Single submitter Leber congenital amaurosis 7
  • c.*2396C>T Single submitter Leber congenital amaurosis 7
  • c.*2602C>T Single submitter Leber congenital amaurosis 7
  • c.*3117A>G Single submitter Leber congenital amaurosis 7
  • c.*527C>T Single submitter Leber congenital amaurosis 7
  • c.*860C>T Single submitter retinitis pigmentosa
  • c.*972C>G Single submitter retinitis pigmentosa

Likely benign 82

  • p.Asp65= Multiple submitters cone-rod dystrophy 2
  • p.Gln104Arg Multiple submitters cone-rod dystrophy 2
  • c.100+13G>A Single submitter cone-rod dystrophy 2
  • c.100+7A>G Single submitter cone-rod dystrophy 2
  • c.100+8C>T Single submitter cone-rod dystrophy 2
  • c.101-10C>T Single submitter Leber congenital amaurosis 7
  • c.101-6C>T Single submitter cone-rod dystrophy 2
  • c.252+18_252+24del Single submitter Leber congenital amaurosis 7
  • c.252+8G>C Single submitter cone-rod dystrophy 2
  • c.253-11T>C Single submitter cone-rod dystrophy 2
  • c.253-16C>T Single submitter cone-rod dystrophy 2
  • c.253-7C>A Single submitter cone-rod dystrophy 2
  • c.-29T>A Single submitter
  • c.*1148G>C Single submitter retinitis pigmentosa
  • p.Ala114= Single submitter cone-rod dystrophy 2
  • p.Ala121= Single submitter cone-rod dystrophy 2
  • p.Ala174= Single submitter Leber congenital amaurosis 7
  • p.Ala177= Single submitter
  • p.Ala181= Single submitter Leber congenital amaurosis 7
  • p.Ala198= Single submitter Leber congenital amaurosis 7
  • p.Ala260Thr Single submitter cone-rod dystrophy 2
  • p.Ala293= Single submitter
  • p.Ala3= Single submitter Leber congenital amaurosis 7
  • p.Ala59= Single submitter Leber congenital amaurosis 7
  • p.Ala68Val Single submitter cone-rod dystrophy 2
  • p.Arg115= Single submitter Leber congenital amaurosis 7
  • p.Arg37= Single submitter Leber congenital amaurosis 7
  • p.Arg41= Single submitter Leber congenital amaurosis 7
  • p.Arg43= Single submitter Leber congenital amaurosis 7
  • p.Arg90= Single submitter cone-rod dystrophy 2
  • p.Arg91= Single submitter Leber congenital amaurosis 7
  • p.Asn14= Single submitter Leber congenital amaurosis 7
  • p.Asn89= Single submitter inherited retinal dystrophy
  • p.Asp130= Single submitter cone-rod dystrophy 2
  • p.Asp284= Single submitter Leber congenital amaurosis 7
  • p.Gln103= Single submitter Leber congenital amaurosis 7
  • p.Glu53= Single submitter cone-rod dystrophy 2
  • p.Glu55= Single submitter cone-rod dystrophy 2
  • p.Glu80= Single submitter Leber congenital amaurosis 7
  • p.Gly178= Single submitter cone-rod dystrophy 2
  • p.Gly230= Single submitter cone-rod dystrophy 2
  • p.Gly259= Single submitter cone-rod dystrophy 2
  • p.Gly8= Single submitter Leber congenital amaurosis 7
  • p.His27= Single submitter Leber congenital amaurosis 7
  • p.Ile298= Single submitter cone-rod dystrophy 2
  • p.Leu136= Single submitter Leber congenital amaurosis 7
  • p.Leu179= Single submitter Leber congenital amaurosis 7
  • p.Leu18= Single submitter Leber congenital amaurosis 7
  • p.Leu234= Single submitter Leber congenital amaurosis 7
  • p.Leu286= Single submitter Leber congenital amaurosis 7
  • p.Leu51= Single submitter Leber congenital amaurosis 7
  • p.Lys113= Single submitter cone-rod dystrophy 2
  • p.Lys120= Single submitter Leber congenital amaurosis 7
  • p.Phe46= Single submitter Leber congenital amaurosis 7
  • p.Pro147= Single submitter Leber congenital amaurosis 7
  • p.Pro184= Single submitter Leber congenital amaurosis 7
  • p.Pro190= Single submitter
  • p.Pro211= Single submitter cone-rod dystrophy 2
  • p.Pro220= Single submitter inherited retinal dystrophy
  • p.Pro232= Single submitter cone-rod dystrophy 2
  • p.Pro232Leu Single submitter cone-rod dystrophy 2 ⚠
  • p.Pro240= Single submitter cone-rod dystrophy 2
  • p.Pro263= Single submitter cone-rod dystrophy 2
  • p.Pro282= Single submitter cone-rod dystrophy 2
  • p.Pro7= Single submitter cone-rod dystrophy 2
  • p.Ser124= Single submitter cone-rod dystrophy 2
  • p.Ser185= Single submitter cone-rod dystrophy 2
  • p.Ser188= Single submitter cone-rod dystrophy 2
  • p.Ser216= Single submitter cone-rod dystrophy 2
  • p.Ser241= Single submitter Leber congenital amaurosis 7
  • p.Ser249= Single submitter cone-rod dystrophy 2
  • p.Ser262= Single submitter Leber congenital amaurosis 7
  • p.Ser292= Single submitter Leber congenital amaurosis 7
  • p.Thr123= Single submitter cone-rod dystrophy 2
  • p.Thr154= Single submitter Leber congenital amaurosis 7
  • p.Tyr195= Single submitter cone-rod dystrophy 2
  • p.Tyr258= Single submitter Leber congenital amaurosis 7
  • p.Tyr4= Single submitter cone-rod dystrophy 2
  • p.Val226= Single submitter cone-rod dystrophy 2
  • p.Val242= Single submitter cone-rod dystrophy 2
  • p.Val66= Single submitter Leber congenital amaurosis 7
  • p.Val72= Single submitter cone-rod dystrophy 2

Uncertain significance 212