BCORL1 — 458 ClinVar variants
All ClinVar germline BCORL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 332 flagged for review →
3 Pathogenic · 4 Likely pathogenic · 4 Conflicting · 13 Benign · 3 Benign/Likely benign · 69 Likely benign · 362 Uncertain significance
Full BCORL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 332
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 vs ClinVar 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
BCORL1 p.Arg1265Cys
Likely pathogenic
Single submitter
intellectual disability
-
BCORL1 p.Pro32Leu
Likely pathogenic
Single submitter
Shukla-Vernon syndrome
-
BCORL1 p.Gly1391Arg
Pathogenic
No assertion criteria
oligoasthenoteratozoospermia
-
BCORL1 p.Val872Gly
Pathogenic
No assertion criteria
oligoasthenoteratozoospermia
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
BCORL1 p.Arg890Gln
Conflicting
Single submitter
Shukla-Vernon syndrome
Predictors lean, ClinVar uncertain 227
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 227
- BCORL1 p.Ala261Val Uncertain significance Multiple submitters
-
BCORL1 p.Arg1716Gln
Uncertain significance
Multiple submitters
Shukla-Vernon syndrome
- BCORL1 p.Asp77Val Uncertain significance Multiple submitters
- BCORL1 p.Gln1076Arg Uncertain significance Multiple submitters
- BCORL1 p.Glu1744Lys Uncertain significance Multiple submitters
- BCORL1 p.Glu186Lys Uncertain significance Multiple submitters
- BCORL1 p.His215Tyr Uncertain significance Multiple submitters
-
BCORL1 p.Lys1425Arg
Uncertain significance
Multiple submitters
Shukla-Vernon syndrome
-
BCORL1 p.Met430Val
Uncertain significance
Multiple submitters
Shukla-Vernon syndrome
-
BCORL1 p.Pro1155Thr
Uncertain significance
Multiple submitters
Shukla-Vernon syndrome
- BCORL1 p.Ser1033Pro Uncertain significance Multiple submitters
-
BCORL1 p.Ser955Arg
Uncertain significance
Multiple submitters
Shukla-Vernon syndrome
-
BCORL1 p.Thr178Ala
Uncertain significance
Multiple submitters
Shukla-Vernon syndrome
-
BCORL1 p.Thr683Ala
Uncertain significance
Multiple submitters
Shukla-Vernon syndrome
-
BCORL1 p.Thr980Met
Uncertain significance
Multiple submitters
Shukla-Vernon syndrome
- BCORL1 p.Tyr101His Uncertain significance Multiple submitters
- BCORL1 p.Val1249Ile Uncertain significance Multiple submitters
- BCORL1 p.Val866Ala Uncertain significance Multiple submitters
- BCORL1 p.Ala102Val Uncertain significance Single submitter
-
BCORL1 p.Ala1074Thr
Uncertain significance
Single submitter
BCORL1-related disorder
- BCORL1 p.Ala1089Val Uncertain significance Single submitter
- BCORL1 p.Ala1209Thr Uncertain significance Single submitter
- BCORL1 p.Ala1263Thr Uncertain significance Single submitter
- BCORL1 p.Ala1408Val Uncertain significance Single submitter
- BCORL1 p.Ala1537Pro Uncertain significance Single submitter
- BCORL1 p.Ala1537Thr Uncertain significance Single submitter
- BCORL1 p.Ala1570Val Uncertain significance Single submitter
- BCORL1 p.Ala1587Gly Uncertain significance Single submitter
- BCORL1 p.Ala31Ser Uncertain significance Single submitter
- BCORL1 p.Ala339Val Uncertain significance Single submitter
- BCORL1 p.Ala400Thr Uncertain significance Single submitter
- BCORL1 p.Ala764Ser Uncertain significance Single submitter
- BCORL1 p.Ala839Val Uncertain significance Single submitter
- BCORL1 p.Ala849Ser Uncertain significance Single submitter
-
BCORL1 p.Arg1196Gln
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Arg1214His Uncertain significance Single submitter
- BCORL1 p.Arg1278His Uncertain significance Single submitter
-
BCORL1 p.Arg1299Gln
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Arg1299Gly Uncertain significance Single submitter
- BCORL1 p.Arg1354Gln Uncertain significance Single submitter
- BCORL1 p.Arg1358Lys Uncertain significance Single submitter
- BCORL1 p.Arg1358Thr Uncertain significance Single submitter
- BCORL1 p.Arg1364Leu Uncertain significance Single submitter
- BCORL1 p.Arg136Lys Uncertain significance Single submitter
- BCORL1 p.Arg1381Gly Uncertain significance Single submitter
- BCORL1 p.Arg1622Trp Uncertain significance Single submitter
- BCORL1 p.Arg1745Thr Uncertain significance Single submitter
- BCORL1 p.Arg1765Leu Uncertain significance Single submitter
- BCORL1 p.Arg72Pro Uncertain significance Single submitter
- BCORL1 p.Arg743Cys Uncertain significance Single submitter
- BCORL1 p.Arg743His Uncertain significance Single submitter
-
BCORL1 p.Arg789Cys
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Arg789His Uncertain significance Single submitter
- BCORL1 p.Arg816Gln Uncertain significance Single submitter
-
BCORL1 p.Arg861Lys
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Arg945Gln Uncertain significance Single submitter
- BCORL1 p.Asn104His Uncertain significance Single submitter
- BCORL1 p.Asn1174Lys Uncertain significance Single submitter
- BCORL1 p.Asn13Asp Uncertain significance Single submitter
- BCORL1 p.Asn1557Lys Uncertain significance Single submitter
- BCORL1 p.Asn1784Ser Uncertain significance Single submitter
- BCORL1 p.Asn195Asp Uncertain significance Single submitter
- BCORL1 p.Asn675Lys Uncertain significance Single submitter
- BCORL1 p.Asn722Ser Uncertain significance Single submitter
-
BCORL1 p.Asn820Ser
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Asp1024Gly Uncertain significance Single submitter
- BCORL1 p.Asp1198Ala Uncertain significance Single submitter
- BCORL1 p.Asp1284Asn Uncertain significance Single submitter
- BCORL1 p.Asp1510Val Uncertain significance Single submitter
- BCORL1 p.Asp153Val Uncertain significance Single submitter
- BCORL1 p.Asp1606Asn Uncertain significance Single submitter
- BCORL1 p.Asp1663Asn Uncertain significance Single submitter
- BCORL1 p.Asp35Asn Uncertain significance Single submitter
- BCORL1 p.Asp77Asn Uncertain significance Single submitter
- BCORL1 p.Gln1001Lys Uncertain significance Single submitter
- BCORL1 p.Gln1228Arg Uncertain significance Single submitter
- BCORL1 p.Gln1247His Uncertain significance Single submitter
- BCORL1 p.Gln1310Glu Uncertain significance Single submitter
- BCORL1 p.Gln1349Pro Uncertain significance Single submitter
- BCORL1 p.Gln1372Arg Uncertain significance Single submitter
- BCORL1 p.Gln1620Arg Uncertain significance Single submitter
-
BCORL1 p.Gln1659Pro
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Gln590Lys Uncertain significance Single submitter
-
BCORL1 p.Gln985Arg
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Glu109Gln Uncertain significance Single submitter
- BCORL1 p.Glu1124Gly Uncertain significance Single submitter
- BCORL1 p.Glu1157Lys Uncertain significance Single submitter
- BCORL1 p.Glu1201Gln Uncertain significance Single submitter
- BCORL1 p.Glu1202Lys Uncertain significance Single submitter
-
BCORL1 p.Glu1352Gln
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Glu1406Lys Uncertain significance Single submitter
- BCORL1 p.Glu170Lys Uncertain significance Single submitter
- BCORL1 p.Glu186Gly Uncertain significance Single submitter
- BCORL1 p.Glu588Gln Uncertain significance Single submitter
- BCORL1 p.Glu82Gly Uncertain significance Single submitter
- BCORL1 p.Glu951Lys Uncertain significance Single submitter
- BCORL1 p.Gly1056Arg Uncertain significance Single submitter
-
BCORL1 p.Gly1078Ala
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Gly10Ser Uncertain significance Single submitter
- BCORL1 p.Gly1291Asp Uncertain significance Single submitter
-
BCORL1 p.Gly1325Ser
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Gly1357Ala Uncertain significance Single submitter
- BCORL1 p.Gly1398Ser Uncertain significance Single submitter
- BCORL1 p.Gly1756Val Uncertain significance Single submitter
- BCORL1 p.Gly293Val Uncertain significance Single submitter
- BCORL1 p.Gly533Cys Uncertain significance Single submitter
- BCORL1 p.Gly586Ser Uncertain significance Single submitter
- BCORL1 p.Gly66Glu Uncertain significance Single submitter
-
BCORL1 p.Gly673Val
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Gly674Asp Uncertain significance Single submitter
-
BCORL1 p.Gly715Asp
Uncertain significance
Single submitter
Shukla-Vernon syndrome
-
BCORL1 p.Gly793Val
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Gly845Ser Uncertain significance Single submitter
- BCORL1 p.Gly871Val Uncertain significance Single submitter
- BCORL1 p.Gly883Arg Uncertain significance Single submitter
- BCORL1 p.Gly941Ser Uncertain significance Single submitter
- BCORL1 p.Gly967Ser Uncertain significance Single submitter
-
BCORL1 p.Ile269Leu
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Ile317Val Uncertain significance Single submitter
- BCORL1 p.Ile693Met Uncertain significance Single submitter
- BCORL1 p.Ile753Val Uncertain significance Single submitter
- BCORL1 p.Ile813Val Uncertain significance Single submitter
- BCORL1 p.Ile944Val Uncertain significance Single submitter
- BCORL1 p.Leu1550Pro Uncertain significance Single submitter
- BCORL1 p.Leu1576Pro Uncertain significance Single submitter
- BCORL1 p.Leu1698Ile Uncertain significance Single submitter
- BCORL1 p.Leu33Val Uncertain significance Single submitter
- BCORL1 p.Leu567Val Uncertain significance Single submitter
- BCORL1 p.Leu633Arg Uncertain significance Single submitter
- BCORL1 p.Leu657His Uncertain significance Single submitter
- BCORL1 p.Leu738Arg Uncertain significance Single submitter
- BCORL1 p.Leu995Gln Uncertain significance Single submitter
- BCORL1 p.Lys1005Glu Uncertain significance Single submitter
- BCORL1 p.Lys1120Arg Uncertain significance Single submitter
- BCORL1 p.Lys1123Glu Uncertain significance Single submitter
- BCORL1 p.Lys1150Arg Uncertain significance Single submitter
- BCORL1 p.Lys1160Arg Uncertain significance Single submitter
- BCORL1 p.Lys1184Arg Uncertain significance Single submitter
- BCORL1 p.Lys1187Gln Uncertain significance Single submitter
- BCORL1 p.Met1006Thr Uncertain significance Single submitter
- BCORL1 p.Met1665Ile Uncertain significance Single submitter
- BCORL1 p.Met22Leu Uncertain significance Single submitter
- BCORL1 p.Met22Val Uncertain significance Single submitter
- BCORL1 p.Met430Thr Uncertain significance Single submitter
- BCORL1 p.Met583Thr Uncertain significance Single submitter
- BCORL1 p.Met611Val Uncertain significance Single submitter
- BCORL1 p.Met620Leu Uncertain significance Single submitter
- BCORL1 p.Phe895Ser Uncertain significance Single submitter
- BCORL1 p.Phe895Val Uncertain significance Single submitter
- BCORL1 p.Pro1007Ala Uncertain significance Single submitter
Predictors split 100
The independent predictors disagree with each other — read with care.
-
BCORL1 p.Arg1334Gln
Uncertain significance
Multiple submitters
Shukla-Vernon syndrome
- BCORL1 p.His233Tyr Uncertain significance Multiple submitters
- BCORL1 p.Lys704Asn Uncertain significance Multiple submitters
-
BCORL1 p.Pro1681Ser
Uncertain significance
Multiple submitters
Shukla-Vernon syndrome
-
BCORL1 p.Pro503Leu
Uncertain significance
Multiple submitters
Shukla-Vernon syndrome
-
BCORL1 p.Ser1192Cys
Uncertain significance
Multiple submitters
Shukla-Vernon syndrome
-
BCORL1 p.Ser55Asn
Uncertain significance
Multiple submitters
Shukla-Vernon syndrome
- BCORL1 p.Thr63Met Uncertain significance Multiple submitters
- BCORL1 p.Val1139Met Likely benign Multiple submitters
-
BCORL1 p.Val329Leu
Uncertain significance
Multiple submitters
Shukla-Vernon syndrome
-
BCORL1 p.Val420Met
Uncertain significance
Multiple submitters
Shukla-Vernon syndrome
- BCORL1 p.Ala201Pro Uncertain significance Single submitter
- BCORL1 p.Ala289Ser Uncertain significance Single submitter
- BCORL1 p.Ala301Gly Uncertain significance Single submitter
- BCORL1 p.Ala377Asp Likely benign Single submitter
- BCORL1 p.Ala404Gly Uncertain significance Single submitter
- BCORL1 p.Arg1083Trp Uncertain significance Single submitter
- BCORL1 p.Arg1226Cys Uncertain significance Single submitter
- BCORL1 p.Arg1329Ser Uncertain significance Single submitter
- BCORL1 p.Arg1332Gln Uncertain significance Single submitter
- BCORL1 p.Arg1333Lys Uncertain significance Single submitter
- BCORL1 p.Arg1334Pro Uncertain significance Single submitter
- BCORL1 p.Arg1355Trp Uncertain significance Single submitter
- BCORL1 p.Arg1364Cys Uncertain significance Single submitter
- BCORL1 p.Arg1364His Uncertain significance Single submitter
- BCORL1 p.Arg1765Pro Uncertain significance Single submitter
- BCORL1 p.Arg21His Likely benign Single submitter
- BCORL1 p.Arg630Cys Uncertain significance Single submitter
-
BCORL1 p.Arg630Leu
Uncertain significance
Single submitter
BCORL1-related disorder
- BCORL1 p.Arg630Pro Uncertain significance Single submitter
- BCORL1 p.Arg72Trp Likely benign Single submitter
- BCORL1 p.Arg740His Uncertain significance Single submitter
- BCORL1 p.Arg890Trp Uncertain significance Single submitter
- BCORL1 p.Asp1351His Uncertain significance Single submitter
- BCORL1 p.Asp1360Tyr Uncertain significance Single submitter
- BCORL1 p.Cys52Tyr Uncertain significance Single submitter
- BCORL1 p.Glu1256Asp Uncertain significance Single submitter
- BCORL1 p.Glu1257Lys Uncertain significance Single submitter
- BCORL1 p.Glu1324Asp Uncertain significance Single submitter
- BCORL1 p.Glu749Lys Uncertain significance Single submitter
- BCORL1 p.Gly458Glu Uncertain significance Single submitter
-
BCORL1 p.Gly774Cys
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.His1144Tyr Likely benign Single submitter
- BCORL1 p.His744Arg Uncertain significance Single submitter
- BCORL1 p.Leu1046Pro Uncertain significance Single submitter
- BCORL1 p.Leu1384Phe Uncertain significance Single submitter
- BCORL1 p.Leu282Phe Uncertain significance Single submitter
- BCORL1 p.Leu499Phe Uncertain significance Single submitter
- BCORL1 p.Leu662Pro Uncertain significance Single submitter
- BCORL1 p.Leu842Phe Uncertain significance Single submitter
- BCORL1 p.Leu926Phe Uncertain significance Single submitter
- BCORL1 p.Lys1117Arg Uncertain significance Single submitter
- BCORL1 p.Met611Ile Uncertain significance Single submitter
- BCORL1 p.Phe174Ser Uncertain significance Single submitter
- BCORL1 p.Pro1755Thr Uncertain significance Single submitter
- BCORL1 p.Pro202Arg Uncertain significance Single submitter
- BCORL1 p.Pro262Ala Conflicting Single submitter
-
BCORL1 p.Pro262Leu
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Pro262Ser Uncertain significance Single submitter
- BCORL1 p.Pro294Leu Uncertain significance Single submitter
-
BCORL1 p.Pro312Ser
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Pro336Gln Uncertain significance Single submitter
-
BCORL1 p.Pro352Arg
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Pro352Leu Uncertain significance Single submitter
- BCORL1 p.Pro378Ser Uncertain significance Single submitter
- BCORL1 p.Pro394Ser Uncertain significance Single submitter
- BCORL1 p.Pro448Gln Uncertain significance Single submitter
- BCORL1 p.Pro725Leu Uncertain significance Single submitter
- BCORL1 p.Pro750Ser Uncertain significance Single submitter
- BCORL1 p.Pro810Arg Uncertain significance Single submitter
- BCORL1 p.Pro982His Uncertain significance Single submitter
-
BCORL1 p.Ser1029Asn
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Ser1033Phe Uncertain significance Single submitter
- BCORL1 p.Ser1231Asn Uncertain significance Single submitter
- BCORL1 p.Ser1234Asn Uncertain significance Single submitter
- BCORL1 p.Ser129Asn Uncertain significance Single submitter
- BCORL1 p.Ser1613Arg Uncertain significance Single submitter
- BCORL1 p.Ser34Phe Uncertain significance Single submitter
-
BCORL1 p.Ser416Asn
Uncertain significance
Single submitter
BCORL1-related disorder
- BCORL1 p.Ser418Asn Uncertain significance Single submitter
- BCORL1 p.Ser462Arg Uncertain significance Single submitter
-
BCORL1 p.Ser496Phe
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Ser780Asn Conflicting Single submitter
-
BCORL1 p.Thr267Met
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Thr477Met Uncertain significance Single submitter
- BCORL1 p.Thr551Ile Uncertain significance Single submitter
- BCORL1 p.Thr563Ile Uncertain significance Single submitter
-
BCORL1 p.Thr648Ile
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Trp833Arg Uncertain significance Single submitter
- BCORL1 p.Val1049Met Uncertain significance Single submitter
- BCORL1 p.Val168Phe Uncertain significance Single submitter
- BCORL1 p.Val192Phe Uncertain significance Single submitter
- BCORL1 p.Val277Leu Uncertain significance Single submitter
- BCORL1 p.Val333Phe Uncertain significance Single submitter
- BCORL1 p.Val381Glu Uncertain significance Single submitter
-
BCORL1 p.Val381Met
Uncertain significance
Single submitter
Shukla-Vernon syndrome
- BCORL1 p.Val694Met Uncertain significance Single submitter
-
BCORL1 p.Arg1278Cys
Uncertain significance
No assertion criteria
BCORL1-related disorder
-
BCORL1 p.Glu692Lys
Uncertain significance
No assertion criteria
BCORL1-related disorder
-
BCORL1 p.Ser473Phe
Uncertain significance
No assertion criteria
BCORL1-related disorder
All BCORL1 variants
Pathogenic 3
- p.Gln1442Ter Single submitter Neurodevelopmental delay
- p.Gly1391Arg No assertion criteria oligoasthenoteratozoospermia ⚠
- p.Val872Gly No assertion criteria oligoasthenoteratozoospermia ⚠
Likely pathogenic 4
- p.Arg1265Cys Single submitter intellectual disability ⚠
- p.Leu521fs Single submitter Shukla-Vernon syndrome
- p.Pro32Leu Single submitter Shukla-Vernon syndrome ⚠
- p.Gln748Ter No assertion criteria plasma cell myeloma
Conflicting classifications of pathogenicity 4
- p.Arg890Gln Single submitter Shukla-Vernon syndrome ⚠
- p.Pro262Ala Single submitter ⚠
- p.Ser780Asn Single submitter ⚠
- p.Thr1461Ala Single submitter
Benign 13
- p.Ala1063= Multiple submitters
- p.Ala261= Multiple submitters
- p.Gly209Ser Multiple submitters
- p.Leu1132= Multiple submitters
- p.Leu553= Multiple submitters
- p.Leu567= Multiple submitters
- p.Lys1053Arg Multiple submitters
- p.Ser1337= Multiple submitters
- p.Val688= Multiple submitters
- p.Asp120= Single submitter
- p.Cys1121= Single submitter
- p.Pro482= Single submitter
- p.Pro691= Single submitter
Benign/Likely benign 3
- p.Asn172= Multiple submitters Shukla-Vernon syndrome
- p.Gly158Arg Multiple submitters
- p.Ser1617= Multiple submitters Shukla-Vernon syndrome
Likely benign 69
- p.Asp94Asn Multiple submitters
- p.Pro1185= Multiple submitters
- p.Pro294= Multiple submitters
- p.Val1139Met Multiple submitters ⚠
- c.4306-4C>T Single submitter
- p.Ala126Thr Single submitter
- p.Ala1728= Single submitter
- p.Ala279= Single submitter
- p.Ala331= Single submitter
- p.Ala377Asp Single submitter ⚠
- p.Ala672= Single submitter
- p.Ala971Gly Single submitter
- p.Arg1090Pro Single submitter
- p.Arg1377Cys Single submitter
- p.Arg1691Cys Single submitter
- p.Arg21His Single submitter ⚠
- p.Arg72Trp Single submitter ⚠
- p.Asn104= Single submitter
- p.Asn1174Ser Single submitter
- p.Asn1382Lys Single submitter
- p.Asn920Ser Single submitter
- p.Asp1669= Single submitter
- p.Gln888= Single submitter
- p.Glu1471= Single submitter
- p.Glu692Gly Single submitter
- p.Glu879Lys Single submitter
- p.Gly1203= Single submitter
- p.Gly533Ser Single submitter
- p.Gly850Arg Single submitter
- p.Gly883Glu Single submitter
- p.Gly887Arg Single submitter
- p.His1144Tyr Single submitter ⚠
- p.His1294= Single submitter
- p.His1552= Single submitter
- p.Leu804= Single submitter
- p.Lys1356= Single submitter
- p.Lys1677Arg Single submitter
- p.Phe390= Single submitter
- p.Phe598= Single submitter
- p.Pro1396= Single submitter
- p.Pro143= Single submitter
- p.Pro208= Single submitter
- p.Pro304= Single submitter
- p.Pro353= Single submitter
- p.Pro541= Single submitter
- p.Pro634= Single submitter
- p.Pro759= Single submitter
- p.Ser1190= Single submitter
- p.Ser129= Single submitter
- p.Ser364= Single submitter
- p.Ser530= Single submitter
- p.Ser532= Single submitter
- p.Ser940= Single submitter
- p.Thr597= Single submitter
- p.Thr808= Single submitter
- p.Val1096Ile Single submitter
- p.Val1454Met Single submitter
- p.Val355= Single submitter
- p.Val865Ile Single submitter
- c.5075+10C>T No assertion criteria BCORL1-related disorder
- p.Arg1273Gln No assertion criteria BCORL1-related disorder
- p.Asp542= No assertion criteria BCORL1-related disorder
- p.Glu1257del No assertion criteria BCORL1-related disorder
- p.Gly1087Arg No assertion criteria BCORL1-related disorder
- p.Pro636= No assertion criteria BCORL1-related disorder
- p.Pro649= No assertion criteria BCORL1-related disorder
- p.Ser197= No assertion criteria BCORL1-related disorder
- p.Ser298= No assertion criteria BCORL1-related disorder
- p.Ser685= No assertion criteria BCORL1-related disorder
Uncertain significance 362
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala261Val Multiple submitters ⚠
- p.Arg1334Gln Multiple submitters Shukla-Vernon syndrome ⚠
- p.Arg1716Gln Multiple submitters Shukla-Vernon syndrome ⚠
- p.Asp1360_Leu1361delinsVal Multiple submitters
- p.Asp77Val Multiple submitters ⚠
- p.Gln1076Arg Multiple submitters ⚠
- p.Glu1744Lys Multiple submitters ⚠
- p.Glu186Lys Multiple submitters ⚠
- p.His215Tyr Multiple submitters ⚠
- p.His233Tyr Multiple submitters ⚠
- p.Lys1425Arg Multiple submitters Shukla-Vernon syndrome ⚠
- p.Lys704Asn Multiple submitters ⚠
- p.Met430Val Multiple submitters Shukla-Vernon syndrome ⚠
- p.Pro1155Thr Multiple submitters Shukla-Vernon syndrome ⚠
- p.Pro1681Ser Multiple submitters Shukla-Vernon syndrome ⚠
- p.Pro503Leu Multiple submitters Shukla-Vernon syndrome ⚠
- p.Ser1033Pro Multiple submitters ⚠
- p.Ser1192Cys Multiple submitters Shukla-Vernon syndrome ⚠
- p.Ser55Asn Multiple submitters Shukla-Vernon syndrome ⚠
- p.Ser955Arg Multiple submitters Shukla-Vernon syndrome ⚠
- p.Thr178Ala Multiple submitters Shukla-Vernon syndrome ⚠
- p.Thr63Met Multiple submitters ⚠
- p.Thr683Ala Multiple submitters Shukla-Vernon syndrome ⚠
- p.Thr980Met Multiple submitters Shukla-Vernon syndrome ⚠
- p.Tyr101His Multiple submitters ⚠
- p.Val1249Ile Multiple submitters ⚠
- p.Val329Leu Multiple submitters Shukla-Vernon syndrome ⚠
- p.Val420Met Multiple submitters Shukla-Vernon syndrome ⚠
- p.Val866Ala Multiple submitters ⚠
- c.3607+3A>G Single submitter Shukla-Vernon syndrome
- c.3689-1G>A Single submitter
- c.5076-45G>A Single submitter
- c.86+4del Single submitter
- c.*74C>A Single submitter Shukla-Vernon syndrome
- p.Ala102Val Single submitter ⚠
- p.Ala1074Thr Single submitter BCORL1-related disorder ⚠
- p.Ala1089Val Single submitter ⚠
- p.Ala1209Thr Single submitter ⚠
- p.Ala1263Thr Single submitter ⚠
- p.Ala1408Val Single submitter ⚠
- p.Ala1537Pro Single submitter ⚠
- p.Ala1537Thr Single submitter ⚠
- p.Ala1570Val Single submitter ⚠
- p.Ala1587Gly Single submitter ⚠
- p.Ala1646fs Single submitter
- p.Ala201Pro Single submitter ⚠
- p.Ala289Ser Single submitter ⚠
- p.Ala301Gly Single submitter ⚠
- p.Ala31Ser Single submitter ⚠
- p.Ala339Val Single submitter ⚠
- p.Ala400Thr Single submitter ⚠
- p.Ala404Gly Single submitter ⚠
- p.Ala74fs Single submitter
- p.Ala764Asn Single submitter
- p.Ala764Ser Single submitter ⚠
- p.Ala839Val Single submitter ⚠
- p.Ala849Ser Single submitter ⚠
- p.Arg1083Trp Single submitter ⚠
- p.Arg1196Gln Single submitter Shukla-Vernon syndrome ⚠
- p.Arg1196Ter Single submitter
- p.Arg1214His Single submitter ⚠
- p.Arg1226Cys Single submitter ⚠
- p.Arg1278His Single submitter ⚠
- p.Arg1299Gln Single submitter Shukla-Vernon syndrome ⚠
- p.Arg1299Gly Single submitter ⚠
- p.Arg1329Ser Single submitter ⚠
- p.Arg1332Gln Single submitter ⚠
- p.Arg1333Lys Single submitter ⚠
- p.Arg1334fs Single submitter
- p.Arg1334Pro Single submitter ⚠
- p.Arg1354Gln Single submitter ⚠
- p.Arg1355Trp Single submitter ⚠
- p.Arg1358Lys Single submitter ⚠
- p.Arg1358Thr Single submitter ⚠
- p.Arg1364Cys Single submitter ⚠
- p.Arg1364His Single submitter ⚠
- p.Arg1364Leu Single submitter ⚠
- p.Arg136Lys Single submitter ⚠
- p.Arg1381= Single submitter
- p.Arg1381Gly Single submitter ⚠
- p.Arg1439Cys Single submitter Shukla-Vernon syndrome
- p.Arg1487Ser Single submitter
- p.Arg1622Trp Single submitter ⚠
- p.Arg1716Gly Single submitter
- p.Arg1745Thr Single submitter ⚠
- p.Arg1765Leu Single submitter ⚠
- p.Arg1765Pro Single submitter ⚠
- p.Arg609Ter Single submitter Shukla-Vernon syndrome
- p.Arg630Cys Single submitter ⚠
- p.Arg630Leu Single submitter BCORL1-related disorder ⚠
- p.Arg630Pro Single submitter ⚠
- p.Arg72Pro Single submitter ⚠
- p.Arg740His Single submitter ⚠
- p.Arg743Cys Single submitter ⚠
- p.Arg743His Single submitter ⚠
- p.Arg789Cys Single submitter Shukla-Vernon syndrome ⚠
- p.Arg789His Single submitter ⚠
- p.Arg816Gln Single submitter ⚠
- p.Arg861Lys Single submitter Shukla-Vernon syndrome ⚠
- p.Arg890Trp Single submitter ⚠
- p.Arg945Gln Single submitter ⚠
- p.Asn104del Single submitter
- p.Asn104His Single submitter ⚠
- p.Asn1174Lys Single submitter ⚠
- p.Asn13Asp Single submitter ⚠
- p.Asn1557Lys Single submitter ⚠
- p.Asn1684Thr Single submitter
- p.Asn1784Ser Single submitter ⚠
- p.Asn195Asp Single submitter ⚠
- p.Asn675Lys Single submitter ⚠
- p.Asn722Ser Single submitter ⚠
- p.Asn735fs Single submitter
- p.Asn820Ser Single submitter Shukla-Vernon syndrome ⚠
- p.Asp1024Gly Single submitter ⚠
- p.Asp1198Ala Single submitter ⚠
- p.Asp1284Asn Single submitter ⚠
- p.Asp1351His Single submitter ⚠
- p.Asp1360Tyr Single submitter ⚠
- p.Asp1510Glu Single submitter
- p.Asp1510Val Single submitter ⚠
- p.Asp153Val Single submitter ⚠
- p.Asp1544His Single submitter
- p.Asp1606Asn Single submitter ⚠
- p.Asp1663Asn Single submitter ⚠
- p.Asp1701Asn Single submitter Shukla-Vernon syndrome
- p.Asp35Asn Single submitter ⚠
- p.Asp77Asn Single submitter ⚠
- p.Cys1460Arg Single submitter
- p.Cys52Tyr Single submitter ⚠
- p.Gln1001Lys Single submitter ⚠
- p.Gln1043= Single submitter
- p.Gln1228Arg Single submitter ⚠
- p.Gln1247His Single submitter ⚠
- p.Gln1310Glu Single submitter ⚠
- p.Gln1349Pro Single submitter ⚠
- p.Gln1372Arg Single submitter ⚠
- p.Gln1620Arg Single submitter ⚠
- p.Gln1659Pro Single submitter Shukla-Vernon syndrome ⚠
- p.Gln590Lys Single submitter ⚠
- p.Gln772Ter Single submitter Shukla-Vernon syndrome
- p.Gln856fs Single submitter neurodevelopmental disorder
- p.Gln985Arg Single submitter Shukla-Vernon syndrome ⚠
- p.Glu1036fs Single submitter
- p.Glu109Gln Single submitter ⚠
- p.Glu1124Gly Single submitter ⚠
- p.Glu1157Lys Single submitter ⚠
- p.Glu1201Gln Single submitter ⚠
- p.Glu1202Lys Single submitter ⚠
- p.Glu1256Asp Single submitter ⚠
- p.Glu1257Lys Single submitter ⚠
- p.Glu1324Asp Single submitter ⚠
- p.Glu1324del Single submitter Shukla-Vernon syndrome
- p.Glu1324dup Single submitter
- p.Glu1352Gln Single submitter Shukla-Vernon syndrome ⚠
- p.Glu1406Lys Single submitter ⚠
- p.Glu1660del Single submitter
- p.Glu170Lys Single submitter ⚠
- p.Glu1721Gly Single submitter
- p.Glu186Gly Single submitter ⚠
- p.Glu37del Single submitter
- p.Glu588Gln Single submitter ⚠
- p.Glu749Lys Single submitter ⚠
- p.Glu82Gly Single submitter ⚠
- p.Glu951Lys Single submitter ⚠
- p.Gly1056Arg Single submitter ⚠
- p.Gly1078Ala Single submitter Shukla-Vernon syndrome ⚠
- p.Gly10Ser Single submitter ⚠
- p.Gly1291Asp Single submitter ⚠
- p.Gly1325Ser Single submitter Shukla-Vernon syndrome ⚠
- p.Gly1357Ala Single submitter ⚠
- p.Gly1398Ser Single submitter ⚠
- p.Gly1756Val Single submitter ⚠
- p.Gly293Val Single submitter ⚠
- p.Gly458Glu Single submitter ⚠
- p.Gly533Cys Single submitter ⚠
- p.Gly586Ser Single submitter ⚠
- p.Gly66Glu Single submitter ⚠
- p.Gly673Val Single submitter Shukla-Vernon syndrome ⚠
- p.Gly674Asp Single submitter ⚠
- p.Gly715Asp Single submitter Shukla-Vernon syndrome ⚠
- p.Gly774Cys Single submitter Shukla-Vernon syndrome ⚠
- p.Gly774fs Single submitter
- p.Gly793Val Single submitter Shukla-Vernon syndrome ⚠
- p.Gly845Ser Single submitter ⚠
- p.Gly871Val Single submitter ⚠
- p.Gly883Arg Single submitter ⚠
- p.Gly941Ser Single submitter ⚠
- p.Gly967Ser Single submitter ⚠
- p.His1525Arg Single submitter
- p.His1525Gln Single submitter
- p.His744Arg Single submitter ⚠
- p.Ile269Leu Single submitter Shukla-Vernon syndrome ⚠
- p.Ile317Val Single submitter ⚠
- p.Ile693Met Single submitter ⚠
- p.Ile753Val Single submitter ⚠
- p.Ile813Val Single submitter ⚠
- p.Ile944Val Single submitter ⚠
- p.Leu1046Pro Single submitter ⚠
- p.Leu1384Phe Single submitter ⚠
- p.Leu1550Pro Single submitter ⚠
- p.Leu1576Pro Single submitter ⚠
- p.Leu1698Ile Single submitter ⚠
- p.Leu1703Ser Single submitter
- p.Leu282Phe Single submitter ⚠
- p.Leu33Val Single submitter ⚠
- p.Leu499Phe Single submitter ⚠
- p.Leu567Val Single submitter ⚠
- p.Leu633Arg Single submitter ⚠
- p.Leu657His Single submitter ⚠
- p.Leu662Pro Single submitter ⚠
- p.Leu738Arg Single submitter ⚠
- p.Leu842Phe Single submitter ⚠
- p.Leu926Phe Single submitter ⚠
- p.Leu995Gln Single submitter ⚠
- p.Leu995Pro Single submitter
- p.Lys1005Glu Single submitter ⚠
- p.Lys1117Arg Single submitter ⚠
- p.Lys1120Arg Single submitter ⚠
- p.Lys1123Glu Single submitter ⚠
- p.Lys1150Arg Single submitter ⚠
- p.Lys1160Arg Single submitter ⚠
- p.Lys1184Arg Single submitter ⚠
- p.Lys1187Gln Single submitter ⚠
- p.Met1006Thr Single submitter ⚠
- p.Met1665Ile Single submitter ⚠
- p.Met22Leu Single submitter ⚠
- p.Met22Val Single submitter ⚠
- p.Met430Thr Single submitter ⚠
- p.Met583Thr Single submitter ⚠
- p.Met611Ile Single submitter ⚠
- p.Met611Val Single submitter ⚠
- p.Met620Leu Single submitter ⚠
- p.Phe174Ser Single submitter ⚠
- p.Phe895Ser Single submitter ⚠
- p.Phe895Val Single submitter ⚠
- p.Pro1007Ala Single submitter ⚠
- p.Pro1075Leu Single submitter ⚠
- p.Pro1134Gln Single submitter Shukla-Vernon syndrome ⚠
- p.Pro114His Single submitter ⚠
- p.Pro1407Thr Single submitter ⚠
- p.Pro1664Leu Single submitter ⚠
- p.Pro1726Leu Single submitter ⚠
- p.Pro1742Ser Single submitter ⚠
- p.Pro1746Ser Single submitter ⚠
- p.Pro1755Thr Single submitter ⚠
- p.Pro202Arg Single submitter ⚠
- p.Pro206Ser Single submitter ⚠
- p.Pro208Ser Single submitter ⚠
- p.Pro238Ser Single submitter ⚠
- p.Pro262Leu Single submitter Shukla-Vernon syndrome ⚠
- p.Pro262Ser Single submitter ⚠
- p.Pro291Ala Single submitter ⚠
- p.Pro291Thr Single submitter ⚠
- p.Pro294Leu Single submitter ⚠
- p.Pro312Ser Single submitter Shukla-Vernon syndrome ⚠
- p.Pro323Leu Single submitter ⚠
- p.Pro336Gln Single submitter ⚠
- p.Pro352Arg Single submitter Shukla-Vernon syndrome ⚠
- p.Pro352Leu Single submitter ⚠
- p.Pro378Ser Single submitter ⚠
- p.Pro394Ser Single submitter ⚠
- p.Pro448Gln Single submitter ⚠
- p.Pro614Leu Single submitter ⚠
- p.Pro634Ser Single submitter ⚠
- p.Pro699Leu Single submitter ⚠
- p.Pro699Ser Single submitter ⚠
- p.Pro725Arg Single submitter ⚠
- p.Pro725Leu Single submitter ⚠
- p.Pro742Ser Single submitter ⚠
- p.Pro750Ser Single submitter ⚠
- p.Pro759His Single submitter ⚠
- p.Pro810Arg Single submitter ⚠
- p.Pro810Ser Single submitter ⚠
- p.Pro823Ser Single submitter Shukla-Vernon syndrome ⚠
- p.Pro835Ala Single submitter ⚠
- p.Pro859Leu Single submitter ⚠
- p.Pro885Ser Single submitter ⚠
- p.Pro95Leu Single submitter ⚠
- p.Pro968Leu Single submitter ⚠
- p.Pro968Ser Single submitter ⚠
- p.Pro982His Single submitter ⚠
- p.Ser1029Asn Single submitter Shukla-Vernon syndrome ⚠
- p.Ser1033Phe Single submitter ⚠
- p.Ser1231Asn Single submitter ⚠
- p.Ser1234Asn Single submitter ⚠
- p.Ser129Asn Single submitter ⚠
- p.Ser1373Arg Single submitter ⚠
- p.Ser1393Leu Single submitter ⚠
- p.Ser1395Leu Single submitter Shukla-Vernon syndrome ⚠
- p.Ser1520Gly Single submitter BCORL1-related disorder ⚠
- p.Ser1604Cys Single submitter Shukla-Vernon syndrome
- p.Ser1613Arg Single submitter ⚠
- p.Ser1617Leu Single submitter ⚠
- p.Ser1690Thr Single submitter ⚠
- p.Ser1736Phe Single submitter ⚠
- p.Ser1758Phe Single submitter ⚠
- p.Ser210Leu Single submitter Shukla-Vernon syndrome ⚠
- p.Ser324Leu Single submitter Shukla-Vernon syndrome ⚠
- p.Ser34Phe Single submitter ⚠
- p.Ser414Pro Single submitter ⚠