MYBBP1A — 382 ClinVar variants

All ClinVar germline MYBBP1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 312 flagged for review →

2 Conflicting · 18 Benign · 2 Benign/Likely benign · 38 Likely benign · 322 Uncertain significance

Full MYBBP1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 312

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 250

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 250

Predictors split 62

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

All MYBBP1A variants

Conflicting classifications of pathogenicity 2

p.Leu1142Val Single submitter ⚠
p.Val828Leu Single submitter ⚠

Benign 18

c.199-5C>T Multiple submitters
p.Ala798= Multiple submitters
p.Arg748Ser Multiple submitters
p.Arg877Cys Multiple submitters ⚠
p.Gln1256Ter Multiple submitters
p.Gln8Glu Multiple submitters
p.Glu745Gly Multiple submitters
p.Ile826= Multiple submitters
p.Leu28= Multiple submitters
p.Lys1299Arg Multiple submitters
p.Lys638Glu Multiple submitters
p.Pro1164= Multiple submitters
p.Pro9Leu Multiple submitters
p.Val1069Met Multiple submitters
c.2311-15_2311-8dup Single submitter
p.Arg411= Single submitter
p.Leu793= Single submitter
p.Lys498Arg Single submitter

Benign/Likely benign 2

c.1825-4G>A Multiple submitters
p.Arg896= Multiple submitters

Likely benign 38

p.Thr1106Met Multiple submitters ⚠
p.Tyr333= Multiple submitters
p.Ala509Thr Single submitter
p.Ala785= Single submitter
p.Ala902Thr Single submitter
p.Ala920Ser Single submitter
p.Arg1215Lys Single submitter
p.Arg411Gln Single submitter
p.Arg704His Single submitter
p.Arg715Gln Single submitter
p.Arg888His Single submitter
p.Arg896Cys Single submitter ⚠
p.Asn937Ser Single submitter
p.Asp1133Asn Single submitter
p.Asp120His Single submitter
p.Glu511Gly Single submitter
p.Glu778Asp Single submitter
p.Glu948Lys Single submitter
p.Gly1263= Single submitter
p.Gly1266Arg Single submitter
p.Gly334Arg Single submitter ⚠
p.Gly537Asp Single submitter
p.Gly726Ser Single submitter
p.His680Gln Single submitter
p.Ile1015Val Single submitter
p.Ile207Val Single submitter
p.Lys1212Arg Single submitter
p.Met959Val Single submitter
p.Pro1006= Single submitter
p.Pro1258Leu Single submitter
p.Ser1045Leu Single submitter
p.Ser240= Single submitter
p.Ser738= Single submitter
p.Thr1106= Single submitter
p.Thr317Ser Single submitter
p.Thr639Ala Single submitter
p.Thr919= Single submitter
p.Val337Met Single submitter

Uncertain significance 322

Showing the top 300 by review status; the full set is in the sitemap.

p.Arg148Gln Multiple submitters ⚠
p.Arg307His Multiple submitters ⚠
p.Ala1061Val Single submitter ⚠
p.Ala1077Val Single submitter ⚠
p.Ala1154Gly Single submitter ⚠
p.Ala1192Pro Single submitter ⚠
p.Ala1222Val Single submitter ⚠
p.Ala1237Val Single submitter ⚠
p.Ala1246Asp Single submitter ⚠
p.Ala1300Val Single submitter ⚠
p.Ala1316Thr Single submitter ⚠
p.Ala135Gly Single submitter ⚠
p.Ala15Pro Single submitter ⚠
p.Ala20Thr Single submitter ⚠
p.Ala254Val Single submitter ⚠
p.Ala301Asp Single submitter ⚠
p.Ala311Thr Single submitter ⚠
p.Ala402Val Single submitter ⚠
p.Ala470Pro Single submitter ⚠
p.Ala470Ser Single submitter ⚠
p.Ala512Gly Single submitter ⚠
p.Ala549Thr Single submitter ⚠
p.Ala567Val Single submitter ⚠
p.Ala593Pro Single submitter ⚠
p.Ala685Val Single submitter ⚠
p.Ala719Val Single submitter ⚠
p.Ala73Ser Single submitter ⚠
p.Ala769Ser Single submitter ⚠
p.Ala785Ser Single submitter ⚠
p.Ala785Val Single submitter ⚠
p.Ala788Val Single submitter ⚠
p.Ala794Val Single submitter ⚠
p.Ala798Gly Single submitter ⚠
p.Ala7Thr Single submitter ⚠
p.Ala843Asp Single submitter ⚠
p.Ala876Ser Single submitter ⚠
p.Ala886Pro Single submitter ⚠
p.Ala897Thr Single submitter ⚠
p.Ala926Thr Single submitter ⚠
p.Ala952Gly Single submitter ⚠
p.Ala97Val Single submitter ⚠
p.Arg1025Gln Single submitter ⚠
p.Arg1025Trp Single submitter ⚠
p.Arg1027His Single submitter ⚠
p.Arg1041Trp Single submitter ⚠
p.Arg1068Cys Single submitter ⚠
p.Arg1068Gly Single submitter ⚠
p.Arg1130Cys Single submitter ⚠
p.Arg1146Cys Single submitter ⚠
p.Arg1146His Single submitter ⚠
p.Arg1169Gln Single submitter ⚠
p.Arg1181Cys Single submitter ⚠
p.Arg1181Leu Single submitter ⚠
p.Arg1184Cys Single submitter ⚠
p.Arg1184Gly Single submitter ⚠
p.Arg1184His Single submitter ⚠
p.Arg1240Pro Single submitter ⚠
p.Arg1240Trp Single submitter ⚠
p.Arg1297Trp Single submitter ⚠
p.Arg130Gly Single submitter ⚠
p.Arg178Gly Single submitter ⚠
p.Arg262Cys Single submitter ⚠
p.Arg273His Single submitter ⚠
p.Arg283Trp Single submitter ⚠
p.Arg331Cys Single submitter ⚠
p.Arg331Pro Single submitter ⚠
p.Arg33Gly Single submitter ⚠
p.Arg369Trp Single submitter ⚠
p.Arg396Gln Single submitter ⚠
p.Arg396Gly Single submitter ⚠
p.Arg396Trp Single submitter ⚠
p.Arg411Trp Single submitter ⚠
p.Arg443Gln Single submitter ⚠
p.Arg575Trp Single submitter ⚠
p.Arg633His Single submitter ⚠
p.Arg634Pro Single submitter ⚠
p.Arg634Trp Single submitter ⚠
p.Arg636Cys Single submitter ⚠
p.Arg671Gln Single submitter ⚠
p.Arg684Cys Single submitter ⚠
p.Arg714Trp Single submitter ⚠
p.Arg757Gln Single submitter ⚠
p.Arg757Trp Single submitter
p.Arg803Cys Single submitter Meniere disease ⚠
p.Arg803His Single submitter ⚠
p.Arg808Gly Single submitter ⚠
p.Arg821Gln Single submitter ⚠
p.Arg822Cys Single submitter ⚠
p.Arg822His Single submitter ⚠
p.Arg827Gln Single submitter
p.Arg827Leu Single submitter ⚠
p.Arg827Trp Single submitter ⚠
p.Arg857Trp Single submitter ⚠
p.Arg858Cys Single submitter ⚠
p.Arg858His Single submitter ⚠
p.Arg861His Single submitter ⚠
p.Arg877His Single submitter ⚠
p.Arg885His Single submitter ⚠
p.Arg887Gln Single submitter ⚠
p.Arg887Trp Single submitter ⚠
p.Arg906Gln Single submitter ⚠
p.Arg913Cys Single submitter ⚠
p.Arg913His Single submitter ⚠
p.Asn1090Ser Single submitter ⚠
p.Asn1214Ser Single submitter ⚠
p.Asn1255Asp Single submitter ⚠
p.Asn1255Lys Single submitter ⚠
p.Asn382Asp Single submitter ⚠
p.Asn694His Single submitter ⚠
p.Asn729Ser Single submitter ⚠
p.Asn812Asp Single submitter ⚠
p.Asn812Lys Single submitter ⚠
p.Asn842Ser Single submitter ⚠
p.Asn925Ser Single submitter ⚠
p.Asp1049Glu Single submitter ⚠
p.Asp1133His Single submitter ⚠
p.Asp152Ala Single submitter
p.Asp204Asn Single submitter ⚠
p.Asp418Glu Single submitter ⚠
p.Asp461Glu Single submitter ⚠
p.Asp700Asn Single submitter ⚠
p.Asp700Tyr Single submitter ⚠
p.Asp712Asn Single submitter ⚠
p.Asp749Glu Single submitter ⚠
p.Asp751Asn Single submitter ⚠
p.Asp870Glu Single submitter ⚠
p.Asp892Asn Single submitter ⚠
p.Cys614Trp Single submitter ⚠
p.Cys678Gly Single submitter ⚠
p.Cys968Tyr Single submitter ⚠
p.Gln1018His Single submitter ⚠
p.Gln1058Glu Single submitter ⚠
p.Gln1078His Single submitter ⚠
p.Gln1116Arg Single submitter ⚠
p.Gln116Arg Single submitter ⚠
p.Gln116Pro Single submitter ⚠
p.Gln17Arg Single submitter ⚠
p.Gln194Arg Single submitter ⚠
p.Gln370Pro Single submitter ⚠
p.Gln430His Single submitter ⚠
p.Gln474Arg Single submitter ⚠
p.Gln508Lys Single submitter ⚠
p.Gln569His Single submitter ⚠
p.Gln571Arg Single submitter ⚠
p.Gln825Glu Single submitter ⚠
p.Glu1051Lys Single submitter ⚠
p.Glu1065Lys Single submitter ⚠
p.Glu1087Asp Single submitter ⚠
p.Glu187Lys Single submitter ⚠
p.Glu290Lys Single submitter ⚠
p.Glu351Gly Single submitter ⚠
p.Glu589Asp Single submitter ⚠
p.Glu644Lys Single submitter ⚠
p.Glu69Gly Single submitter ⚠
p.Glu727Val Single submitter ⚠
p.Glu758Gln Single submitter ⚠
p.Glu758Gly Single submitter ⚠
p.Glu778Lys Single submitter ⚠
p.Glu784Ala Single submitter ⚠
p.Glu817Ala Single submitter
p.Glu841Gly Single submitter ⚠
p.Gly1071Arg Single submitter ⚠
p.Gly1127Ser Single submitter ⚠
p.Gly1143Arg Single submitter ⚠
p.Gly1209Asp Single submitter ⚠
p.Gly1209Ser Single submitter ⚠
p.Gly1226Arg Single submitter ⚠
p.Gly147Cys Single submitter
p.Gly27Asp Single submitter ⚠
p.Gly618Ser Single submitter ⚠
p.Gly750Arg Single submitter ⚠
p.Gly750Glu Single submitter ⚠
p.Gly771Ala Single submitter ⚠
p.Gly771Arg Single submitter ⚠
p.Gly912Val Single submitter ⚠
p.His1019Tyr Single submitter ⚠
p.His1028Tyr Single submitter ⚠
p.His1079Arg Single submitter ⚠
p.His172Tyr Single submitter ⚠
p.His322Tyr Single submitter ⚠
p.His499Tyr Single submitter ⚠
p.His557Tyr Single submitter ⚠
p.His597Tyr Single submitter ⚠
p.His664Arg Single submitter ⚠
p.His680Leu Single submitter ⚠
p.His891Tyr Single submitter ⚠
p.His944Tyr Single submitter ⚠
p.Ile111Asn Single submitter ⚠
p.Ile620Met Single submitter ⚠
p.Leu1001Phe Single submitter
p.Leu1089Phe Single submitter ⚠
p.Leu1105Pro Single submitter ⚠
p.Leu1134Ile Single submitter ⚠
p.Leu121Val Single submitter ⚠
p.Leu185Val Single submitter ⚠
p.Leu209Phe Single submitter ⚠
p.Leu274Pro Single submitter ⚠
p.Leu385Pro Single submitter ⚠
p.Leu505Val Single submitter ⚠
p.Leu583Val Single submitter ⚠
p.Leu658Pro Single submitter ⚠
p.Leu658Val Single submitter ⚠
p.Leu665Arg Single submitter
p.Leu760Met Single submitter ⚠
p.Leu796Phe Single submitter ⚠
p.Leu831Met Single submitter ⚠
p.Leu849Pro Single submitter ⚠
p.Leu928Arg Single submitter ⚠
p.Leu931Pro Single submitter ⚠
p.Leu969Val Single submitter ⚠
p.Lys1076Glu Single submitter ⚠
p.Lys1148Glu Single submitter ⚠
p.Lys1152Glu Single submitter ⚠
p.Lys1171Arg Single submitter ⚠
p.Lys1211Asn Single submitter ⚠
p.Lys1217Glu Single submitter ⚠
p.Lys1250Glu Single submitter ⚠
p.Lys1279Arg Single submitter ⚠
p.Lys158Arg Single submitter ⚠
p.Lys224Arg Single submitter ⚠
p.Lys231Thr Single submitter ⚠
p.Lys263Asn Single submitter ⚠
p.Lys277Arg Single submitter ⚠
p.Lys722Asn Single submitter ⚠
p.Lys811Asn Single submitter ⚠
p.Lys813Thr Single submitter ⚠
p.Lys838Arg Single submitter ⚠
p.Lys866Glu Single submitter ⚠
p.Lys988= Single submitter
p.Met413Val Single submitter ⚠
p.Met576Ile Single submitter ⚠
p.Met70Val Single submitter ⚠
p.Met787Ile Single submitter ⚠
p.Met787Thr Single submitter ⚠
p.Met997Lys Single submitter ⚠
p.Phe134Ser Single submitter ⚠
p.Phe138Leu Single submitter ⚠
p.Phe239Leu Single submitter ⚠
p.Phe359Leu Single submitter ⚠
p.Phe414Ile Single submitter ⚠
p.Phe565Cys Single submitter
p.Pro1023Leu Single submitter ⚠
p.Pro1158Ala Single submitter ⚠
p.Pro1176Leu Single submitter ⚠
p.Pro1228Ser Single submitter ⚠
p.Pro1233Leu Single submitter ⚠
p.Pro1238Leu Single submitter ⚠
p.Pro1249Leu Single submitter ⚠
p.Pro131Leu Single submitter ⚠
p.Pro131Thr Single submitter ⚠
p.Pro198Thr Single submitter ⚠
p.Pro212His Single submitter
p.Pro226Leu Single submitter ⚠
p.Pro226Ser Single submitter ⚠
p.Pro226Thr Single submitter ⚠
p.Pro265Leu Single submitter
p.Pro314Thr Single submitter
p.Pro389Leu Single submitter ⚠
p.Pro417Arg Single submitter ⚠
p.Pro441Leu Single submitter ⚠
p.Pro532Leu Single submitter ⚠
p.Pro683Leu Single submitter ⚠
p.Pro851Arg Single submitter ⚠
p.Ser1039Cys Single submitter ⚠
p.Ser1084Phe Single submitter ⚠
p.Ser1129Gly Single submitter ⚠
p.Ser1248Phe Single submitter ⚠
p.Ser1293Pro Single submitter ⚠
p.Ser189Leu Single submitter ⚠
p.Ser211Cys Single submitter ⚠
p.Ser211Phe Single submitter ⚠
p.Ser240Leu Single submitter ⚠
p.Ser436Leu Single submitter ⚠
p.Ser483Pro Single submitter ⚠
p.Ser514Asn Single submitter ⚠
p.Ser525Asn Single submitter ⚠
p.Ser864Asn Single submitter ⚠
p.Ser917Pro Single submitter ⚠
p.Ser957Asn Single submitter ⚠
p.Thr1126Ser Single submitter ⚠
p.Thr1178Met Single submitter ⚠
p.Thr1190Met Single submitter ⚠
p.Thr1196Ile Single submitter ⚠
p.Thr1229Asn Single submitter ⚠
p.Thr1229Ile Single submitter ⚠
p.Thr1269Met Single submitter ⚠
p.Thr358Asn Single submitter ⚠
p.Thr358Ile Single submitter ⚠
p.Thr388Met Single submitter ⚠
p.Thr390Ala Single submitter ⚠
p.Thr526Met Single submitter ⚠
p.Thr566Ile Single submitter ⚠
p.Thr622Ile Single submitter ⚠
p.Thr79Met Single submitter ⚠
p.Thr919Ile Single submitter ⚠
p.Thr961Met Single submitter ⚠
p.Thr987Asn Single submitter ⚠
p.Thr994Lys Single submitter ⚠
p.Trp541Cys Single submitter ⚠
p.Tyr26Cys Single submitter ⚠