RBP1 — 154 ClinVar variants
All ClinVar germline RBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
6 Benign · 47 Likely benign · 101 Uncertain significance
Full RBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RBP1 p.Arg167His Uncertain significance Multiple submitters
- RBP1 p.Arg93Ser Uncertain significance Multiple submitters
- RBP1 p.Leu180Pro Uncertain significance Multiple submitters
- RBP1 p.Leu86Arg Uncertain significance Multiple submitters
- RBP1 p.Val129Ile Uncertain significance Multiple submitters
- RBP1 p.Arg143Cys Uncertain significance Single submitter
- RBP1 p.Arg143Gly Uncertain significance Single submitter
- RBP1 p.Asn122Lys Uncertain significance Single submitter
- RBP1 p.Asp108Asn Uncertain significance Single submitter
- RBP1 p.Gln171His Uncertain significance Single submitter
- RBP1 p.Gly175Val Uncertain significance Single submitter
- RBP1 p.Gly69Glu Uncertain significance Single submitter
- RBP1 p.Ile114Thr Uncertain significance Single submitter
- RBP1 p.Leu83Met Uncertain significance Single submitter
- RBP1 p.Met146Val Uncertain significance Single submitter
- RBP1 p.Thr116Met Uncertain significance Single submitter
- RBP1 p.Thr148Ile Uncertain significance Single submitter
- RBP1 p.Trp71Gly Uncertain significance Single submitter
- RBP1 p.Tyr123Asp Uncertain significance Single submitter
- RBP1 p.Val196Glu Uncertain significance Single submitter
- RBP1 p.Val88Ile Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- RBP1 p.Asn76Lys Uncertain significance Multiple submitters
- RBP1 p.Glu177Gly Uncertain significance Multiple submitters
- RBP1 p.Gly139Val Uncertain significance Multiple submitters
- RBP1 p.Gly186Ala Uncertain significance Multiple submitters
- RBP1 p.Leu99Met Uncertain significance Multiple submitters
- RBP1 p.Lys155Asn Uncertain significance Multiple submitters
- RBP1 p.Ser150Gly Uncertain significance Multiple submitters
- RBP1 p.Val188Phe Uncertain significance Multiple submitters
- RBP1 p.Asp136Asn Uncertain significance Single submitter
- RBP1 p.Asp66Tyr Uncertain significance Single submitter
- RBP1 p.Gln107Arg Uncertain significance Single submitter
- RBP1 p.Glu135Asp Uncertain significance Single submitter
- RBP1 p.Glu174Lys Uncertain significance Single submitter
- RBP1 p.Gly153Arg Uncertain significance Single submitter
- RBP1 p.Gly168Ser Uncertain significance Single submitter
- RBP1 p.His179Gln Uncertain significance Single submitter
- RBP1 p.Leu137Val Uncertain significance Single submitter
- RBP1 p.Lys164Thr Uncertain significance Single submitter
- RBP1 p.Met73Thr Uncertain significance Single submitter
- RBP1 p.Thr147Ala Uncertain significance Single submitter
All RBP1 variants
Benign 6
- c.438+20T>C Multiple submitters
- p.Arg50= Multiple submitters
- p.Met112Val Multiple submitters
- p.Pro18Leu Multiple submitters
- p.Asp152= Single submitter
- p.Pro64= Single submitter
Likely benign 47
- c.259+14G>A Single submitter
- c.259+20C>T Single submitter
- c.259+8C>T Single submitter
- c.260-11C>A Single submitter
- c.260-20C>G Single submitter
- c.260-20C>T Single submitter
- c.438+12C>T Single submitter
- c.438+13G>A Single submitter
- c.438+13G>C Single submitter
- c.438+13G>T Single submitter
- c.438+17A>C Single submitter
- c.438+18C>T Single submitter
- c.439-16G>A Single submitter
- c.439-4G>T Single submitter
- c.439-8C>A Single submitter
- c.540+20C>G Single submitter
- c.540+9C>T Single submitter
- c.541-18C>T Single submitter
- p.Ala96= Single submitter
- p.Arg167= Single submitter
- p.Arg9= Single submitter
- p.Asp126= Single submitter
- p.Asp141= Single submitter
- p.Cys42= Single submitter
- p.Glu177= Single submitter
- p.Glu80= Single submitter
- p.Glu81= Single submitter
- p.Gly175= Single submitter
- p.Gly69= Single submitter
- p.His111= Single submitter
- p.Ile105= Single submitter
- p.Ile173= Single submitter
- p.Leu22= Single submitter
- p.Leu46= Single submitter
- p.Leu57= Single submitter
- p.Leu74= Single submitter
- p.Pro21= Single submitter
- p.Pro3= Single submitter
- p.Pro43= Single submitter
- p.Pro48= Single submitter
- p.Pro51= Single submitter
- p.Ser20= Single submitter
- p.Thr170= Single submitter
- p.Tyr123= Single submitter
- p.Tyr70= Single submitter
- p.Tyr82= Single submitter
- p.Val15= Single submitter
Uncertain significance 101
- p.Arg167His Multiple submitters ⚠
- p.Arg93Ser Multiple submitters ⚠
- p.Asn76Lys Multiple submitters ⚠
- p.Asp154His Multiple submitters
- p.Glu177Gly Multiple submitters ⚠
- p.Gly139Val Multiple submitters ⚠
- p.Gly186Ala Multiple submitters ⚠
- p.Leu180Pro Multiple submitters ⚠
- p.Leu86Arg Multiple submitters ⚠
- p.Leu99Met Multiple submitters ⚠
- p.Lys155Asn Multiple submitters ⚠
- p.Met63Thr Multiple submitters
- p.Ser150Gly Multiple submitters ⚠
- p.Val129Ile Multiple submitters ⚠
- p.Val188Phe Multiple submitters ⚠
- c.259+4A>T Single submitter
- c.438+3G>A Single submitter
- c.540+5G>A Single submitter
- c.540+5G>T Single submitter
- p.Ala16Thr Single submitter
- p.Ala31Asp Single submitter
- p.Ala31Thr Single submitter
- p.Ala32Thr Single submitter
- p.Ala54Asp Single submitter
- p.Ala5Gly Single submitter
- p.Arg143Cys Single submitter ⚠
- p.Arg143Gly Single submitter ⚠
- p.Arg30Trp Single submitter
- p.Arg36fs Single submitter
- p.Arg41Cys Single submitter
- p.Arg41fs Single submitter
- p.Arg9Cys Single submitter
- p.Arg9Ser Single submitter
- p.Asn122Lys Single submitter ⚠
- p.Asn55Ser Single submitter
- p.Asp108Asn Single submitter ⚠
- p.Asp136Asn Single submitter ⚠
- p.Asp66Tyr Single submitter ⚠
- p.Cys42Tyr Single submitter
- p.Gln107Arg Single submitter ⚠
- p.Gln171His Single submitter ⚠
- p.Gln171Ter Single submitter
- p.Gln197Ter Single submitter
- p.Gln47His Single submitter
- p.Glu135Asp Single submitter ⚠
- p.Glu174= Single submitter
- p.Glu174Lys Single submitter ⚠
- p.Glu25Gly Single submitter
- p.Glu25Lys Single submitter
- p.Gly11Ala Single submitter
- p.Gly153Arg Single submitter ⚠
- p.Gly153Ter Single submitter
- p.Gly168Ser Single submitter ⚠
- p.Gly175Val Single submitter ⚠
- p.Gly44Ser Single submitter
- p.Gly69Glu Single submitter ⚠
- p.Gly6Asp Single submitter
- p.Gly6Ser Single submitter
- p.His179Gln Single submitter ⚠
- p.His33Gln Single submitter
- p.Ile114Thr Single submitter ⚠
- p.Ile124fs Single submitter
- p.Leu137Val Single submitter ⚠
- p.Leu22Gln Single submitter
- p.Leu60fs Single submitter
- p.Leu60His Single submitter
- p.Leu83Met Single submitter ⚠
- p.Leu86= Single submitter
- p.Lys131fs Single submitter Leber congenital amaurosis
- p.Lys164del Single submitter
- p.Lys164Thr Single submitter ⚠
- p.Met146Val Single submitter ⚠
- p.Met1Leu Single submitter
- p.Met1Val Single submitter
- p.Met73Thr Single submitter ⚠
- p.Pro13Ser Single submitter
- p.Pro3Thr Single submitter
- p.Pro43Ala Single submitter
- p.Pro43Leu Single submitter
- p.Pro43Ser Single submitter
- p.Pro4Arg Single submitter
- p.Pro4Thr Single submitter
- p.Pro51Ala Single submitter
- p.Pro61Leu Single submitter
- p.Ser20Ile Single submitter
- p.Ser37Asn Single submitter
- p.Ser37Thr Single submitter
- p.Ser40fs Single submitter
- p.Ser40Lys Single submitter
- p.Ser45Ile Single submitter
- p.Ser49Phe Single submitter
- p.Ter198Arg Single submitter
- p.Thr116Met Single submitter ⚠
- p.Thr147Ala Single submitter ⚠
- p.Thr148Ile Single submitter ⚠
- p.Trp56Leu Single submitter
- p.Trp71Gly Single submitter ⚠
- p.Tyr123Asp Single submitter ⚠
- p.Val196Glu Single submitter ⚠
- p.Val88Ile Single submitter ⚠
- p.Val8Ala Single submitter