GRK1 — 217 ClinVar variants
All ClinVar germline GRK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →
4 Pathogenic · 3 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 8 Conflicting · 8 Benign · 78 Likely benign · 96 Uncertain significance
Full GRK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 93
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.
-
GRK1 p.Arg438Cys
Conflicting
Single submitter
inherited retinal dystrophy
- GRK1 p.Arg438His Conflicting Single submitter
- GRK1 p.Glu464Gln Conflicting Single submitter
-
GRK1 p.Ser536Leu
Conflicting
Single submitter
inherited retinal dystrophy
Predictors lean, ClinVar uncertain 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GRK1 p.Ala394Val
Uncertain significance
Multiple submitters
Oguchi disease-2
-
GRK1 p.Gly68Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRK1 p.Ile269Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRK1 p.Ala107Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Ala11Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Ala14Thr Uncertain significance Single submitter
-
GRK1 p.Ala155Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Ala155Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Ala160Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Ala256Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Ala261Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Ala85Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Arg225Gln Uncertain significance Single submitter
- GRK1 p.Arg248Ser Uncertain significance Single submitter
-
GRK1 p.Arg31Gln
Uncertain significance
Single submitter
Oguchi disease
- GRK1 p.Arg395His Uncertain significance Single submitter
- GRK1 p.Arg535Cys Uncertain significance Single submitter
-
GRK1 p.Asp99Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Cys123Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Cys207Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Cys514Ser Uncertain significance Single submitter
-
GRK1 p.Gln208His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Gln73Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Glu136Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Glu367Lys Uncertain significance Single submitter
-
GRK1 p.Glu48Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Glu530Lys Uncertain significance Single submitter
-
GRK1 p.Glu59Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Gly186Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Gly24Ser Uncertain significance Single submitter
-
GRK1 p.Gly272Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Gly273Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Gly549Arg Uncertain significance Single submitter
- GRK1 p.Gly550Asp Uncertain significance Single submitter
-
GRK1 p.Leu191Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Leu215Pro Uncertain significance Single submitter
- GRK1 p.Lys219Gln Uncertain significance Single submitter
-
GRK1 p.Lys230Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Met185Val Uncertain significance Single submitter
- GRK1 p.Met522Thr Uncertain significance Single submitter
-
GRK1 p.Phe249Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Pro104Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Pro138Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Pro292Leu Uncertain significance Single submitter
-
GRK1 p.Pro66His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Pro66Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Pro84Ser Uncertain significance Single submitter
-
GRK1 p.Ser205Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Ser30Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Ser53Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Ser548Thr Uncertain significance Single submitter
-
GRK1 p.Ser60Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Thr298Met Uncertain significance Single submitter
-
GRK1 p.Val139Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Val195Gly Uncertain significance Single submitter
-
GRK1 p.Val237Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Glu428Lys
Uncertain significance
No assertion criteria
inherited retinal dystrophy
Predictors split 32
The independent predictors disagree with each other — read with care.
-
GRK1 p.Ala18Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRK1 p.Arg51Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRK1 p.Asp262His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRK1 p.Gly144Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GRK1 p.Ala119Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Ala294Thr Uncertain significance Single submitter
- GRK1 p.Arg393Gln Uncertain significance Single submitter
- GRK1 p.Arg450Cys Uncertain significance Single submitter
- GRK1 p.Arg450His Uncertain significance Single submitter
-
GRK1 p.Asp127Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Asp483Tyr
Conflicting
Single submitter
inherited retinal dystrophy
- GRK1 p.Asp543Asn Uncertain significance Single submitter
-
GRK1 p.Cys123Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Gln208Arg Uncertain significance Single submitter
- GRK1 p.Glu306Gly Uncertain significance Single submitter
- GRK1 p.Glu93Lys Uncertain significance Single submitter
-
GRK1 p.Gly144Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Gly488Arg Uncertain significance Single submitter
- GRK1 p.Gly4Arg Benign Single submitter
-
GRK1 p.His156Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GRK1 p.Leu121Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Lys69Asn Uncertain significance Single submitter
- GRK1 p.Phe296Leu Likely benign Single submitter
- GRK1 p.Phe528Ser Uncertain significance Single submitter
- GRK1 p.Pro435Leu Uncertain significance Single submitter
-
GRK1 p.Pro541Leu
Uncertain significance
Single submitter
inherited retinal dystrophy
- GRK1 p.Pro84Leu Uncertain significance Single submitter
-
GRK1 p.Thr97Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- GRK1 p.Trp534Arg Uncertain significance Single submitter
- GRK1 p.Tyr232Cys Uncertain significance Single submitter
- GRK1 p.Val373Leu Uncertain significance Single submitter
- GRK1 p.Val487Met Uncertain significance Single submitter
All GRK1 variants
Pathogenic 4
- p.Glu48fs Multiple submitters Oguchi disease-2
- p.Arg393Ter Single submitter Oguchi disease-2
- p.Ser205Ter Single submitter GRK1-related disorder
- c.1069+3317_1195-753del No assertion criteria Oguchi disease-2
Pathogenic/Likely pathogenic 3
- c.1194+1G>A Multiple submitters GRK1-related disorder
- p.Val380Asp Multiple submitters GRK1-related disorder
- p.Pro391His No assertion criteria Oguchi disease-2
Likely pathogenic 20
- p.Arg19Ter Single submitter Oguchi disease-2
- p.Gln118Ter Single submitter GRK1-related disorder
- p.Gln147fs Single submitter GRK1-related disorder
- p.Gln208Ter Single submitter GRK1-related disorder
- p.Gln485Ter Single submitter GRK1-related disorder
- p.Glu238del Single submitter Oguchi disease-2
- p.Glu444fs Single submitter GRK1-related disorder
- p.Val479fs Single submitter GRK1-related disorder
- c.827+625_883del No assertion criteria Oguchi disease-2
- p.Ala377Pro No assertion criteria Oguchi disease-2
- p.Gln462Ter No assertion criteria congenital stationary night blindness
- p.Glu362Lys No assertion criteria Oguchi disease-2
- p.Gly199Arg No assertion criteria Oguchi disease-2
- p.Leu157Pro No assertion criteria Oguchi disease-2
- p.Leu308Pro No assertion criteria Oguchi disease-2
- p.Leu324fs No assertion criteria Oguchi disease-2
- p.Pro471fs No assertion criteria Oguchi disease-2
- p.Pro517fs No assertion criteria Oguchi disease-2
- p.Tyr170_Leu172del No assertion criteria Oguchi disease-2
- p.Val380Phe No assertion criteria Oguchi disease-2
Conflicting classifications of pathogenicity 8
- c.1396+1G>A Single submitter GRK1-related disorder
- p.Arg407Gln Single submitter inherited retinal dystrophy
- p.Arg438Cys Single submitter inherited retinal dystrophy ⚠
- p.Arg438His Single submitter ⚠
- p.Asp483Tyr Single submitter inherited retinal dystrophy ⚠
- p.Asp537fs Single submitter GRK1-related disorder
- p.Glu464Gln Single submitter ⚠
- p.Ser536Leu Single submitter inherited retinal dystrophy ⚠
Benign 8
- c.1195-50A>G Multiple submitters
- c.700-113C>T Multiple submitters
- c.700-5T>C Multiple submitters
- c.986-13A>G Multiple submitters
- c.1397-44C>G Single submitter
- c.700-15C>T Single submitter
- p.Gly4Arg Single submitter ⚠
- p.Met469Ile Single submitter
Likely benign 78
- p.Leu54= Multiple submitters Oguchi disease-2
- p.Thr298Ala Multiple submitters
- p.Tyr480= Multiple submitters
- c.1069+14C>T Single submitter
- c.1069+15G>A Single submitter
- c.1069+7G>C Single submitter
- c.1070-20G>A Single submitter
- c.1194+14G>A Single submitter
- c.1195-19G>T Single submitter
- c.1396+12C>T Single submitter
- c.1396+20C>G Single submitter
- c.1396+20C>T Single submitter
- c.699+10G>A Single submitter
- c.699+20C>T Single submitter
- c.699+7A>G Single submitter inherited retinal dystrophy
- c.699+9C>T Single submitter
- c.700-14G>A Single submitter
- c.827+11G>A Single submitter
- c.827+7G>T Single submitter
- c.828-4C>T Single submitter
- c.986-11C>T Single submitter
- c.-4C>T Single submitter
- c.*5C>T Single submitter
- p.Ala132= Single submitter
- p.Ala132Val Single submitter Inborn genetic diseases
- p.Ala18= Single submitter
- p.Ala299= Single submitter
- p.Ala377= Single submitter
- p.Ala429Val Single submitter
- p.Ala489= Single submitter
- p.Arg19Gln Single submitter
- p.Asn271= Single submitter
- p.Asn532= Single submitter
- p.Asp374= Single submitter
- p.Asp537= Single submitter
- p.Asp542= Single submitter
- p.Asp99= Single submitter
- p.Glu368= Single submitter
- p.Glu464= Single submitter
- p.Gly137= Single submitter
- p.Gly304= Single submitter
- p.Gly366= Single submitter
- p.Gly390= Single submitter
- p.Gly538Ser Single submitter
- p.His82= Single submitter
- p.Ile516= Single submitter
- p.Ile67= Single submitter
- p.Leu175= Single submitter
- p.Leu242= Single submitter
- p.Leu54Phe Single submitter
- p.Lys178Gln Single submitter
- p.Lys228= Single submitter
- p.Lys350= Single submitter
- p.Lys448= Single submitter
- p.Phe296Leu Single submitter ⚠
- p.Phe505= Single submitter
- p.Phe506= Single submitter
- p.Phe528= Single submitter
- p.Pro292= Single submitter
- p.Pro361= Single submitter
- p.Pro412= Single submitter
- p.Pro43= Single submitter
- p.Pro435= Single submitter
- p.Pro541= Single submitter
- p.Ser205= Single submitter
- p.Ser372= Single submitter
- p.Ser536= Single submitter
- p.Ser554= Single submitter
- p.Ser78= Single submitter
- p.Thr525= Single submitter
- p.Thr97Met Single submitter
- p.Tyr255= Single submitter
- p.Tyr369= Single submitter
- p.Val562= Single submitter
- c.1194+7G>A No assertion criteria GRK1-related disorder
- c.*2T>C No assertion criteria GRK1-related disorder
- p.Ala387= No assertion criteria GRK1-related disorder
- p.Leu88= No assertion criteria GRK1-related disorder
Uncertain significance 96
- p.Ala18Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala394Val Multiple submitters Oguchi disease-2 ⚠
- p.Arg31Trp Multiple submitters Inborn genetic diseases
- p.Arg51Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp262His Multiple submitters Inborn genetic diseases ⚠
- p.Gly144Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gly213Ser Multiple submitters Inborn genetic diseases
- p.Gly68Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile269Thr Multiple submitters Inborn genetic diseases ⚠
- c.1069+5G>C Single submitter
- p.Ala107Val Single submitter Inborn genetic diseases ⚠
- p.Ala119Thr Single submitter Inborn genetic diseases ⚠
- p.Ala11Val Single submitter Inborn genetic diseases ⚠
- p.Ala14Thr Single submitter ⚠
- p.Ala155Ser Single submitter Inborn genetic diseases ⚠
- p.Ala155Val Single submitter Inborn genetic diseases ⚠
- p.Ala160Thr Single submitter Inborn genetic diseases ⚠
- p.Ala256Val Single submitter Inborn genetic diseases ⚠
- p.Ala261Ser Single submitter Inborn genetic diseases ⚠
- p.Ala294Thr Single submitter ⚠
- p.Ala299Val Single submitter
- p.Ala85Val Single submitter Inborn genetic diseases ⚠
- p.Arg225Gln Single submitter ⚠
- p.Arg248Ser Single submitter ⚠
- p.Arg293Cys Single submitter
- p.Arg31Gln Single submitter Oguchi disease ⚠
- p.Arg393Gln Single submitter ⚠
- p.Arg395His Single submitter ⚠
- p.Arg450Cys Single submitter ⚠
- p.Arg450His Single submitter ⚠
- p.Arg535Cys Single submitter ⚠
- p.Asp127Gly Single submitter Inborn genetic diseases ⚠
- p.Asp543Asn Single submitter ⚠
- p.Asp99Glu Single submitter Inborn genetic diseases ⚠
- p.Cys123Ser Single submitter Inborn genetic diseases ⚠
- p.Cys123Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys207Trp Single submitter Inborn genetic diseases ⚠
- p.Cys514Ser Single submitter ⚠
- p.Gln208Arg Single submitter ⚠
- p.Gln208His Single submitter Inborn genetic diseases ⚠
- p.Gln73Leu Single submitter Inborn genetic diseases ⚠
- p.Glu136Gly Single submitter Inborn genetic diseases ⚠
- p.Glu306Gly Single submitter ⚠
- p.Glu367Lys Single submitter ⚠
- p.Glu48Gln Single submitter Inborn genetic diseases ⚠
- p.Glu524Lys Single submitter
- p.Glu530Lys Single submitter ⚠
- p.Glu59Gln Single submitter Inborn genetic diseases ⚠
- p.Glu93Lys Single submitter ⚠
- p.Gly144Ala Single submitter Inborn genetic diseases ⚠
- p.Gly186Arg Single submitter Inborn genetic diseases ⚠
- p.Gly24Ser Single submitter ⚠
- p.Gly272Arg Single submitter Inborn genetic diseases ⚠
- p.Gly273Asp Single submitter Inborn genetic diseases ⚠
- p.Gly488Arg Single submitter ⚠
- p.Gly549Arg Single submitter ⚠
- p.Gly550Asp Single submitter ⚠
- p.Gly558fs Single submitter
- p.His156Leu Single submitter Inborn genetic diseases ⚠
- p.Leu121Pro Single submitter Inborn genetic diseases ⚠
- p.Leu191Gln Single submitter Inborn genetic diseases ⚠
- p.Leu215Pro Single submitter ⚠
- p.Lys219Gln Single submitter ⚠
- p.Lys230Asn Single submitter Inborn genetic diseases ⚠
- p.Lys240del Single submitter
- p.Lys69Asn Single submitter ⚠
- p.Met185Val Single submitter ⚠
- p.Met522Thr Single submitter ⚠
- p.Phe249Ser Single submitter Inborn genetic diseases ⚠
- p.Phe528Ser Single submitter ⚠
- p.Pro104Thr Single submitter Inborn genetic diseases ⚠
- p.Pro138Thr Single submitter Inborn genetic diseases ⚠
- p.Pro292Leu Single submitter ⚠
- p.Pro435Leu Single submitter ⚠
- p.Pro541Leu Single submitter inherited retinal dystrophy ⚠
- p.Pro66His Single submitter Inborn genetic diseases ⚠
- p.Pro66Leu Single submitter Inborn genetic diseases ⚠
- p.Pro84Leu Single submitter ⚠
- p.Pro84Ser Single submitter ⚠
- p.Ser205Leu Single submitter Inborn genetic diseases ⚠
- p.Ser30Phe Single submitter Inborn genetic diseases ⚠
- p.Ser53Arg Single submitter Inborn genetic diseases ⚠
- p.Ser548Thr Single submitter ⚠
- p.Ser60Arg Single submitter Inborn genetic diseases ⚠
- p.Thr298Met Single submitter ⚠
- p.Thr97Pro Single submitter Inborn genetic diseases ⚠
- p.Trp534Arg Single submitter ⚠
- p.Tyr232Cys Single submitter ⚠
- p.Val139Glu Single submitter Inborn genetic diseases ⚠
- p.Val195Gly Single submitter ⚠
- p.Val237Ala Single submitter Inborn genetic diseases ⚠
- p.Val373Leu Single submitter ⚠
- p.Val487Met Single submitter ⚠
- p.Val9Met Single submitter
- p.Glu428Lys No assertion criteria inherited retinal dystrophy ⚠
- p.Val331= No assertion criteria inherited retinal dystrophy