ADIPOR1 — 194 ClinVar variants
All ClinVar germline ADIPOR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
1 Pathogenic · 9 Benign · 85 Likely benign · 99 Uncertain significance
Full ADIPOR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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 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.
- ADIPOR1 p.Thr24Arg Uncertain significance Multiple submitters
- ADIPOR1 p.Ala288Thr Uncertain significance Single submitter
- ADIPOR1 p.Ala43Thr Uncertain significance Single submitter
- ADIPOR1 p.Ala43Val Uncertain significance Single submitter
- ADIPOR1 p.Ala76Thr Uncertain significance Single submitter
- ADIPOR1 p.Arg130Cys Uncertain significance Single submitter
- ADIPOR1 p.Arg130His Uncertain significance Single submitter
- ADIPOR1 p.Arg202Trp Uncertain significance Single submitter
- ADIPOR1 p.Arg235Trp Uncertain significance Single submitter
- ADIPOR1 p.Arg264Gln Uncertain significance Single submitter
- ADIPOR1 p.Arg320Gln Uncertain significance Single submitter
- ADIPOR1 p.Arg362Cys Uncertain significance Single submitter
- ADIPOR1 p.Arg362His Uncertain significance Single submitter
- ADIPOR1 p.Arg65Gln Uncertain significance Single submitter
- ADIPOR1 p.Arg91His Uncertain significance Single submitter
- ADIPOR1 p.Asn107Asp Uncertain significance Single submitter
- ADIPOR1 p.Asn107Ser Uncertain significance Single submitter
- ADIPOR1 p.Asn13Ser Uncertain significance Single submitter
-
ADIPOR1 p.Asp108Asn
Uncertain significance
Single submitter
inherited retinal dystrophy
- ADIPOR1 p.Asp98His Uncertain significance Single submitter
- ADIPOR1 p.Cys183Ser Uncertain significance Single submitter
- ADIPOR1 p.Cys54Arg Uncertain significance Single submitter
- ADIPOR1 p.Gln233Arg Uncertain significance Single submitter
- ADIPOR1 p.Gln52His Uncertain significance Single submitter
- ADIPOR1 p.Gln72Arg Uncertain significance Single submitter
- ADIPOR1 p.Gly12Glu Uncertain significance Single submitter
- ADIPOR1 p.Gly315Ser Uncertain significance Single submitter
- ADIPOR1 p.Gly364Arg Uncertain significance Single submitter
- ADIPOR1 p.Gly364Ser Uncertain significance Single submitter
- ADIPOR1 p.Ile237Thr Uncertain significance Single submitter
- ADIPOR1 p.Ile251Asn Uncertain significance Single submitter
- ADIPOR1 p.Ile339Thr Uncertain significance Single submitter
- ADIPOR1 p.Leu224Phe Uncertain significance Single submitter
- ADIPOR1 p.Leu30Met Uncertain significance Single submitter
- ADIPOR1 p.Leu33Gln Uncertain significance Single submitter
-
ADIPOR1 p.Leu67Val
Uncertain significance
Single submitter
inherited retinal dystrophy
- ADIPOR1 p.Lys105Arg Uncertain significance Single submitter
- ADIPOR1 p.Met161Ile Uncertain significance Single submitter
- ADIPOR1 p.Met161Val Uncertain significance Single submitter
- ADIPOR1 p.Met306Thr Uncertain significance Single submitter
- ADIPOR1 p.Phe150Ser Uncertain significance Single submitter
- ADIPOR1 p.Pro116Thr Uncertain significance Single submitter
- ADIPOR1 p.Pro117Arg Uncertain significance Single submitter
- ADIPOR1 p.Pro46Ser Uncertain significance Single submitter
- ADIPOR1 p.Thr295Ile Uncertain significance Single submitter
- ADIPOR1 p.Trp88Gly Uncertain significance Single submitter
- ADIPOR1 p.Tyr310Asn Uncertain significance Single submitter
- ADIPOR1 p.Tyr363Phe Uncertain significance Single submitter
-
ADIPOR1 p.Val200Phe
Uncertain significance
Single submitter
retinitis pigmentosa
- ADIPOR1 p.Val270Met Uncertain significance Single submitter
- ADIPOR1 p.Val279Ile Uncertain significance Single submitter
- ADIPOR1 p.Val292Ile Uncertain significance Single submitter
- ADIPOR1 p.Val345Glu Uncertain significance Single submitter
-
ADIPOR1 p.Val41Ile
Uncertain significance
Single submitter
inherited retinal dystrophy
- ADIPOR1 p.Val56Ala Uncertain significance Single submitter
- ADIPOR1 p.Val64Gly Uncertain significance Single submitter
- ADIPOR1 p.Val84Gly Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- ADIPOR1 p.Arg257Gln Uncertain significance Multiple submitters
-
ADIPOR1 p.Val146Met
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- ADIPOR1 p.Ala213Thr Uncertain significance Single submitter
- ADIPOR1 p.Ala319Thr Uncertain significance Single submitter
- ADIPOR1 p.Arg202Gln Uncertain significance Single submitter
- ADIPOR1 p.Arg324Cys Uncertain significance Single submitter
- ADIPOR1 p.Arg40Trp Uncertain significance Single submitter
- ADIPOR1 p.Gln254Arg Uncertain significance Single submitter
- ADIPOR1 p.Glu59Lys Uncertain significance Single submitter
- ADIPOR1 p.Ile251Thr Uncertain significance Single submitter
- ADIPOR1 p.Leu149Phe Uncertain significance Single submitter
- ADIPOR1 p.Leu71Gln Uncertain significance Single submitter
- ADIPOR1 p.Lys126Gln Uncertain significance Single submitter
- ADIPOR1 p.Pro159Ser Uncertain significance Single submitter
- ADIPOR1 p.Ser277Cys Uncertain significance Single submitter
- ADIPOR1 p.Thr24Met Uncertain significance Single submitter
- ADIPOR1 p.Thr296Arg Uncertain significance Single submitter
- ADIPOR1 p.Tyr225Phe Uncertain significance Single submitter
- ADIPOR1 p.Tyr353Cys Uncertain significance Single submitter
- ADIPOR1 p.Tyr97His Uncertain significance Single submitter
- ADIPOR1 p.Val193Ile Uncertain significance Single submitter
- ADIPOR1 p.Val350Ile Uncertain significance Single submitter
- ADIPOR1 p.Val64Met Uncertain significance Single submitter
- ADIPOR1 p.Val87Ile Uncertain significance Single submitter
All ADIPOR1 variants
Pathogenic 1
- p.Tyr310Cys Single submitter
Benign 9
- c.430+12G>A Multiple submitters
- p.Asn44= Multiple submitters
- p.Leu274= Multiple submitters inherited retinal dystrophy
- c.1000-17del Single submitter
- c.142-10del Single submitter
- c.431-18del Single submitter
- c.431-18dup Single submitter
- c.617+11del Single submitter
- p.Thr295= Single submitter
Likely benign 85
- c.1000-14T>A Single submitter
- c.1000-4A>G Single submitter
- c.1000-5T>C Single submitter
- c.141+13C>T Single submitter
- c.141+17G>A Single submitter
- c.142-10T>A Single submitter
- c.142-17G>A Single submitter
- c.142-19T>A Single submitter
- c.142-6C>G Single submitter
- c.258+10A>G Single submitter
- c.258+15C>A Single submitter
- c.259-13G>A Single submitter
- c.259-14T>C Single submitter
- c.259-20A>G Single submitter
- c.430+11T>C Single submitter
- c.430+15T>C Single submitter
- c.431-11C>T Single submitter
- c.431-7C>T Single submitter
- c.431-9C>G Single submitter
- c.617+11A>G Single submitter
- c.617+14A>G Single submitter
- c.617+8A>G Single submitter
- c.618-14G>A Single submitter
- c.618-14G>T Single submitter
- c.805+18C>T Single submitter
- c.805+19G>A Single submitter
- c.805+8G>A Single submitter
- c.806-11G>C Single submitter
- c.806-16T>C Single submitter
- c.806-8C>T Single submitter
- c.999+17C>T Single submitter
- p.Ala15Thr Single submitter
- p.Ala253= Single submitter
- p.Ala288= Single submitter
- p.Ala347= Single submitter
- p.Arg158= Single submitter
- p.Arg202= Single submitter
- p.Arg65= Single submitter
- p.Asn107= Single submitter
- p.Gln233= Single submitter
- p.Glu289= Single submitter
- p.Glu323= Single submitter
- p.Glu35= Single submitter
- p.Glu36= Single submitter
- p.Glu62= Single submitter
- p.Glu82= Single submitter
- p.Gly113= Single submitter
- p.Gly218= Single submitter
- p.Gly269= Single submitter
- p.Gly278= Single submitter
- p.Gly328= Single submitter
- p.Gly367= Single submitter
- p.His284= Single submitter
- p.His75= Single submitter
- p.Ile237= Single submitter
- p.Ile241= Single submitter
- p.Ile339= Single submitter
- p.Ile42= Single submitter
- p.Ile42Val Single submitter
- p.Leu149= Single submitter
- p.Leu154= Single submitter
- p.Leu157= Single submitter
- p.Leu184= Single submitter
- p.Leu27= Single submitter
- p.Leu276= Single submitter
- p.Lys37= Single submitter
- p.Phe145= Single submitter
- p.Phe186= Single submitter
- p.Phe334= Single submitter
- p.Pro232= Single submitter
- p.Pro327= Single submitter
- p.Ser185= Single submitter
- p.Ser197= Single submitter
- p.Ser205= Single submitter
- p.Thr133= Single submitter
- p.Thr140= Single submitter
- p.Thr24= Single submitter
- p.Thr282= Single submitter
- p.Tyr162= Single submitter
- p.Tyr238= Single submitter
- p.Tyr310= Single submitter
- p.Tyr363= Single submitter
- p.Val279= Single submitter
- p.Val84= Single submitter
- p.Ser127= No assertion criteria ADIPOR1-related disorder
Uncertain significance 99
- p.Arg257Gln Multiple submitters ⚠
- p.Thr24Arg Multiple submitters ⚠
- p.Val146Met Multiple submitters inherited retinal dystrophy ⚠
- c.1000-3C>T Single submitter
- c.141+3A>T Single submitter
- c.142-3T>C Single submitter
- c.258+3A>G Single submitter
- c.258+3A>T Single submitter
- c.431-3C>T Single submitter
- c.617+6T>C Single submitter
- c.805+4G>T Single submitter
- p.Ala213Thr Single submitter ⚠
- p.Ala288Thr Single submitter ⚠
- p.Ala319Thr Single submitter ⚠
- p.Ala43Thr Single submitter ⚠
- p.Ala43Val Single submitter ⚠
- p.Ala76Thr Single submitter ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg130His Single submitter ⚠
- p.Arg202Gln Single submitter ⚠
- p.Arg202Trp Single submitter ⚠
- p.Arg235Trp Single submitter ⚠
- p.Arg264Gln Single submitter ⚠
- p.Arg320Gln Single submitter ⚠
- p.Arg324Cys Single submitter ⚠
- p.Arg362Cys Single submitter ⚠
- p.Arg362His Single submitter ⚠
- p.Arg40Trp Single submitter ⚠
- p.Arg65Gln Single submitter ⚠
- p.Arg91His Single submitter ⚠
- p.Asn107Asp Single submitter ⚠
- p.Asn107Ser Single submitter ⚠
- p.Asn13Ser Single submitter ⚠
- p.Asp108Asn Single submitter inherited retinal dystrophy ⚠
- p.Asp98His Single submitter ⚠
- p.Cys183Ser Single submitter ⚠
- p.Cys54Arg Single submitter ⚠
- p.Gln11fs Single submitter
- p.Gln233Arg Single submitter ⚠
- p.Gln254Arg Single submitter ⚠
- p.Gln52His Single submitter ⚠
- p.Gln72Arg Single submitter ⚠
- p.Glu59Lys Single submitter ⚠
- p.Gly12Glu Single submitter ⚠
- p.Gly315Ser Single submitter ⚠
- p.Gly364Arg Single submitter ⚠
- p.Gly364Ser Single submitter ⚠
- p.Ile237Thr Single submitter ⚠
- p.Ile251Asn Single submitter ⚠
- p.Ile251Thr Single submitter ⚠
- p.Ile339Thr Single submitter ⚠
- p.Ile95fs Single submitter
- p.Leu143= Single submitter
- p.Leu149Phe Single submitter ⚠
- p.Leu224Phe Single submitter ⚠
- p.Leu236fs Single submitter
- p.Leu30Met Single submitter ⚠
- p.Leu33Gln Single submitter ⚠
- p.Leu67Val Single submitter inherited retinal dystrophy ⚠
- p.Leu71Gln Single submitter ⚠
- p.Lys105Arg Single submitter ⚠
- p.Lys126Gln Single submitter ⚠
- p.Lys86= Single submitter inherited retinal dystrophy
- p.Met161Ile Single submitter ⚠
- p.Met161Val Single submitter ⚠
- p.Met1Thr Single submitter
- p.Met306Thr Single submitter ⚠
- p.Phe150Ser Single submitter ⚠
- p.Phe228= Single submitter
- p.Pro116Thr Single submitter ⚠
- p.Pro117Arg Single submitter ⚠
- p.Pro159Ser Single submitter ⚠
- p.Pro46Ser Single submitter ⚠
- p.Ser277Cys Single submitter ⚠
- p.Thr135fs Single submitter
- p.Thr192= Single submitter
- p.Thr24Met Single submitter ⚠
- p.Thr295Ile Single submitter ⚠
- p.Thr296Arg Single submitter ⚠
- p.Trp88Gly Single submitter ⚠
- p.Tyr225Phe Single submitter ⚠
- p.Tyr310Asn Single submitter ⚠
- p.Tyr353Cys Single submitter ⚠
- p.Tyr363Phe Single submitter ⚠
- p.Tyr97His Single submitter ⚠
- p.Val171= Single submitter
- p.Val193Ile Single submitter ⚠
- p.Val200Phe Single submitter retinitis pigmentosa ⚠
- p.Val270Met Single submitter ⚠
- p.Val279Ile Single submitter ⚠
- p.Val292Ile Single submitter ⚠
- p.Val345Glu Single submitter ⚠
- p.Val350Ile Single submitter ⚠
- p.Val41Ile Single submitter inherited retinal dystrophy ⚠
- p.Val56Ala Single submitter ⚠
- p.Val64Gly Single submitter ⚠
- p.Val64Met Single submitter ⚠
- p.Val84Gly Single submitter ⚠
- p.Val87Ile Single submitter ⚠