BICC1 — 438 ClinVar variants
All ClinVar germline BICC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 242 flagged for review →
1 Pathogenic · 4 Likely pathogenic · 14 Conflicting · 37 Benign · 7 Benign/Likely benign · 118 Likely benign · 257 Uncertain significance
Full BICC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 242
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 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- BICC1 p.Arg819Gln Conflicting Single submitter
-
BICC1 p.Arg947His
Conflicting
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Asn325Ser Conflicting Single submitter
-
BICC1 p.Glu562Lys
Conflicting
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Glu713Lys Conflicting Single submitter
- BICC1 p.Glu812Lys Conflicting Single submitter
-
BICC1 p.Ile514Val
Conflicting
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Pro430Leu Conflicting Single submitter
-
BICC1 p.Ser943Leu
Conflicting
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Thr467Ala Conflicting Single submitter
Predictors lean, ClinVar uncertain 154
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 154
- BICC1 p.Ala190Thr Uncertain significance Multiple submitters
-
BICC1 p.Ala276Ser
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
- BICC1 p.Ala523Val Uncertain significance Multiple submitters
- BICC1 p.Arg657Lys Uncertain significance Multiple submitters
-
BICC1 p.Arg804His
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Arg839His
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Asn259Asp
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Asn476Ser
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Asp578Ala
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
- BICC1 p.Asp814Val Uncertain significance Multiple submitters
- BICC1 p.Cys621Gly Uncertain significance Multiple submitters
- BICC1 p.Gln486Arg Uncertain significance Multiple submitters
-
BICC1 p.Glu932Gly
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
- BICC1 p.Gly539Arg Uncertain significance Multiple submitters
- BICC1 p.Gly620Asp Uncertain significance Multiple submitters
-
BICC1 p.His573Arg
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
-
BICC1 p.His670Gln
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Ile384Val
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
- BICC1 p.Ile424Arg Uncertain significance Multiple submitters
-
BICC1 p.Ile514Leu
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Leu775Met
Uncertain significance
Multiple submitters
BICC1-related disorder
- BICC1 p.Met123Leu Uncertain significance Multiple submitters
-
BICC1 p.Met559Val
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Met855Val
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Pro824His
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Ser14Leu
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Thr331Ala
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
- BICC1 p.Thr541Arg Uncertain significance Multiple submitters
-
BICC1 p.Thr666Ala
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Thr666Met
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Thr845Lys
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Thr845Met
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
- BICC1 p.Ala11Gly Uncertain significance Single submitter
- BICC1 p.Ala12Gly Uncertain significance Single submitter
- BICC1 p.Ala37Ser Uncertain significance Single submitter
- BICC1 p.Ala477Val Uncertain significance Single submitter
- BICC1 p.Ala503Thr Uncertain significance Single submitter
- BICC1 p.Ala583Thr Uncertain significance Single submitter
- BICC1 p.Ala741Thr Uncertain significance Single submitter
-
BICC1 p.Arg200Trp
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Arg313Gly
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Arg937Gln Uncertain significance Single submitter
- BICC1 p.Arg938Gly Uncertain significance Single submitter
- BICC1 p.Arg961His Uncertain significance Single submitter
- BICC1 p.Arg973Cys Uncertain significance Single submitter
- BICC1 p.Arg973His Uncertain significance Single submitter
- BICC1 p.Asn259Ser Uncertain significance Single submitter
-
BICC1 p.Asn466Ser
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Asn622Ser Uncertain significance Single submitter
- BICC1 p.Asn668Asp Uncertain significance Single submitter
- BICC1 p.Asn842Lys Uncertain significance Single submitter
- BICC1 p.Asn870His Uncertain significance Single submitter
-
BICC1 p.Asn945Asp
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Asp15Glu
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Asp33Val
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Asp443Asn Uncertain significance Single submitter
- BICC1 p.Asp553Glu Uncertain significance Single submitter
- BICC1 p.Asp600Asn Uncertain significance Single submitter
-
BICC1 p.Asp600Gly
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Asp877His Uncertain significance Single submitter
- BICC1 p.Cys654Tyr Uncertain significance Single submitter
- BICC1 p.Gln176Leu Uncertain significance Single submitter
- BICC1 p.Gln218His Uncertain significance Single submitter
- BICC1 p.Gln218Pro Uncertain significance Single submitter
- BICC1 p.Gln727Glu Uncertain significance Single submitter
- BICC1 p.Gln896Glu Uncertain significance Single submitter
- BICC1 p.Glu113Asp Uncertain significance Single submitter
- BICC1 p.Glu160Gly Uncertain significance Single submitter
-
BICC1 p.Glu210Asp
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Glu661Ala Uncertain significance Single submitter
-
BICC1 p.Glu713Gln
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Glu829Ala Uncertain significance Single submitter
- BICC1 p.Glu829Gln Uncertain significance Single submitter
-
BICC1 p.Glu898Ala
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Gly149Ser
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Gly163Arg Uncertain significance Single submitter
- BICC1 p.Gly548Cys Uncertain significance Single submitter
- BICC1 p.Gly599Arg Uncertain significance Single submitter
-
BICC1 p.Gly5Ala
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Gly607Ala Uncertain significance Single submitter
- BICC1 p.Gly620Val Uncertain significance Single submitter
- BICC1 p.Gly641Ser Uncertain significance Single submitter
-
BICC1 p.Gly809Asp
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Gly823Val Uncertain significance Single submitter
- BICC1 p.Gly875Ser Uncertain significance Single submitter
-
BICC1 p.Gly972Ser
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.His555Arg Uncertain significance Single submitter
- BICC1 p.His573Tyr Uncertain significance Single submitter
-
BICC1 p.His672Arg
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.His672Asp
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Ile155Thr Uncertain significance Single submitter
-
BICC1 p.Ile228Leu
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Ile310Thr Uncertain significance Single submitter
- BICC1 p.Ile424Val Uncertain significance Single submitter
- BICC1 p.Ile530Val Uncertain significance Single submitter
- BICC1 p.Ile566Val Uncertain significance Single submitter
-
BICC1 p.Leu202Arg
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Leu35Phe Uncertain significance Single submitter
- BICC1 p.Leu502Phe Uncertain significance Single submitter
- BICC1 p.Leu912Met Uncertain significance Single submitter
- BICC1 p.Lys385Thr Uncertain significance Single submitter
-
BICC1 p.Lys387Asn
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Lys580Glu Uncertain significance Single submitter
-
BICC1 p.Lys889Thr
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Met137Ile
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Met137Val Uncertain significance Single submitter
-
BICC1 p.Met159Val
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Met349Val
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Met375Ile
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Met559Lys
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Met647Val Uncertain significance Single submitter
-
BICC1 p.Met726Leu
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Phe320Cys
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Phe320Leu Uncertain significance Single submitter
-
BICC1 p.Phe370Leu
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Phe381Leu
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Phe904Ser Uncertain significance Single submitter
- BICC1 p.Pro169Arg Uncertain significance Single submitter
- BICC1 p.Pro16Thr Uncertain significance Single submitter
- BICC1 p.Pro223Thr Uncertain significance Single submitter
- BICC1 p.Pro323Arg Uncertain significance Single submitter
-
BICC1 p.Pro326Thr
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Pro434Leu
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Pro440Leu Uncertain significance Single submitter
-
BICC1 p.Pro44Ala
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Pro495Ser
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Pro520Ser Uncertain significance Single submitter
-
BICC1 p.Pro546Thr
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Pro689Ser
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Pro719Ser Uncertain significance Single submitter
- BICC1 p.Pro785Thr Uncertain significance Single submitter
-
BICC1 p.Ser245Thr
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Ser419Asn Uncertain significance Single submitter
-
BICC1 p.Ser43Arg
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Ser473Thr
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Ser506Leu Uncertain significance Single submitter
- BICC1 p.Ser507Gly Uncertain significance Single submitter
- BICC1 p.Ser797Pro Uncertain significance Single submitter
- BICC1 p.Ser828Gly Uncertain significance Single submitter
-
BICC1 p.Ser871Thr
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Ser971Thr
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Thr234Met
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Thr461Asn Uncertain significance Single submitter
- BICC1 p.Thr462Asn Uncertain significance Single submitter
-
BICC1 p.Thr469Ala
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Thr550Ile
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Thr786Pro Uncertain significance Single submitter
- BICC1 p.Tyr248Cys Uncertain significance Single submitter
- BICC1 p.Tyr848Cys Uncertain significance Single submitter
- BICC1 p.Tyr9Phe Uncertain significance Single submitter
Predictors split 78
The independent predictors disagree with each other — read with care.
- BICC1 p.Arg302Gln Uncertain significance Multiple submitters
- BICC1 p.Arg800Gln Benign/Likely benign Multiple submitters
- BICC1 p.Arg961Cys Uncertain significance Multiple submitters
-
BICC1 p.Asn236Ser
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
- BICC1 p.Gly821Glu Likely benign Multiple submitters
-
BICC1 p.Met61Val
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Pro386Ala
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
- BICC1 p.Pro545Thr Uncertain significance Multiple submitters
- BICC1 p.Pro547Ala Uncertain significance Multiple submitters
-
BICC1 p.Ser637Tyr
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
- BICC1 p.Val206Met Benign Multiple submitters
-
BICC1 p.Val264Leu
Uncertain significance
Multiple submitters
renal dysplasia, cystic, susceptibility to
- BICC1 p.Val970Asp Uncertain significance Multiple submitters
- BICC1 p.Ala186Val Uncertain significance Single submitter
- BICC1 p.Ala372Val Uncertain significance Single submitter
- BICC1 p.Ala438Glu Uncertain significance Single submitter
- BICC1 p.Ala702Val Uncertain significance Single submitter
- BICC1 p.Ala778Asp Uncertain significance Single submitter
- BICC1 p.Arg132Gln Uncertain significance Single submitter
- BICC1 p.Arg244His Uncertain significance Single submitter
- BICC1 p.Arg246Gln Uncertain significance Single submitter
- BICC1 p.Arg700Cys Uncertain significance Single submitter
- BICC1 p.Arg720Trp Uncertain significance Single submitter
-
BICC1 p.Arg777Ser
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Arg800Leu
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Arg800Trp
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Arg958Thr Uncertain significance Single submitter
- BICC1 p.Asn153Ser Uncertain significance Single submitter
-
BICC1 p.Asn236His
Conflicting
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Asn236Thr Uncertain significance Single submitter
-
BICC1 p.Asn472Asp
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Asp25Asn Uncertain significance Single submitter
- BICC1 p.Gln288Leu Uncertain significance Single submitter
- BICC1 p.Gln524Lys Likely benign Single submitter
- BICC1 p.Glu160Lys Uncertain significance Single submitter
- BICC1 p.Gly436Cys Uncertain significance Single submitter
- BICC1 p.Gly70Ser Uncertain significance Single submitter
- BICC1 p.Ile185Val Benign Single submitter
- BICC1 p.Ile444Thr Uncertain significance Single submitter
-
BICC1 p.Ile88Val
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Leu297Pro Uncertain significance Single submitter
-
BICC1 p.Leu35Trp
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Leu475Phe Uncertain significance Single submitter
-
BICC1 p.Leu485Met
Conflicting
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Leu717Phe Uncertain significance Single submitter
- BICC1 p.Leu807Phe Uncertain significance Single submitter
- BICC1 p.Met123Ile Uncertain significance Single submitter
-
BICC1 p.Met311Ile
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Met767Thr Uncertain significance Single submitter
- BICC1 p.Pro219Leu Uncertain significance Single submitter
- BICC1 p.Pro221His Uncertain significance Single submitter
- BICC1 p.Pro226Arg Uncertain significance Single submitter
-
BICC1 p.Pro547Arg
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Pro547His Uncertain significance Single submitter
- BICC1 p.Ser383Thr Likely benign Single submitter
-
BICC1 p.Ser427Ile
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Ser43Ile Uncertain significance Single submitter
-
BICC1 p.Ser507Asn
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Ser782Cys Uncertain significance Single submitter
- BICC1 p.Ser794Leu Uncertain significance Single submitter
-
BICC1 p.Ser794Thr
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Ser799Leu
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Ser826Asn Uncertain significance Single submitter
- BICC1 p.Ser836Ile Uncertain significance Single submitter
- BICC1 p.Ser859Phe Uncertain significance Single submitter
- BICC1 p.Ser860Leu Uncertain significance Single submitter
- BICC1 p.Thr142Ala Uncertain significance Single submitter
-
BICC1 p.Thr461Ile
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Thr749Ala
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Thr753Met Uncertain significance Single submitter
-
BICC1 p.Thr908Ser
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
-
BICC1 p.Thr919Ala
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Trp46Cys Uncertain significance Single submitter
-
BICC1 p.Trp758Cys
Uncertain significance
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Tyr783Cys Uncertain significance Single submitter
-
BICC1 p.Val332Ile
Conflicting
Single submitter
renal dysplasia, cystic, susceptibility to
- BICC1 p.Val747Ala Uncertain significance Single submitter
-
BICC1 p.Gln335His
Uncertain significance
No assertion criteria
congenital anomaly of kidney and urinary tract
All BICC1 variants
Pathogenic 1
- p.Glu32fs Single submitter renal dysplasia, cystic, susceptibility to
Likely pathogenic 4
- c.1179+1G>T Single submitter renal dysplasia, cystic, susceptibility to
- c.387+1G>C Single submitter renal agenesis
- p.Glu609fs Single submitter renal dysplasia, cystic, susceptibility to
- p.Lys744fs Single submitter renal dysplasia, cystic, susceptibility to
Conflicting classifications of pathogenicity 14
- p.Arg402Ter Single submitter renal dysplasia, cystic, susceptibility to
- p.Arg819Gln Single submitter ⚠
- p.Arg947His Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Asn236His Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Asn325Ser Single submitter ⚠
- p.Glu562Lys Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Glu713Lys Single submitter ⚠
- p.Glu812Lys Single submitter ⚠
- p.Ile514Val Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Leu485Met Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Pro430Leu Single submitter ⚠
- p.Ser943Leu Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Thr467Ala Single submitter ⚠
- p.Val332Ile Single submitter renal dysplasia, cystic, susceptibility to ⚠
Benign 37
- c.1367-34A>T Multiple submitters
- c.1725+35G>C Multiple submitters
- c.190+28T>C Multiple submitters
- c.190+62C>A Multiple submitters
- c.191-62C>T Multiple submitters
- c.2016-8T>C Multiple submitters
- c.2181+60G>C Multiple submitters
- c.2182-207G>A Multiple submitters
- c.2182-91A>G Multiple submitters
- c.2221+90A>G Multiple submitters
- c.2533+7G>T Multiple submitters
- c.2534-66C>T Multiple submitters
- c.2795-46T>C Multiple submitters
- c.2795-56G>A Multiple submitters
- c.600+93G>A Multiple submitters
- c.-51G>A Multiple submitters
- c.*299G>T Multiple submitters
- p.Asn945Ser Multiple submitters
- p.Gln346= Multiple submitters renal dysplasia, cystic, susceptibility to
- p.Glu682Asp Multiple submitters
- p.Ile213Val Multiple submitters
- p.Leu869= Multiple submitters
- p.Ser943Pro Multiple submitters
- p.Val206Met Multiple submitters ⚠
- c.1180-241A>G Single submitter
- c.1366+228A>G Single submitter
- c.1366+242G>A Single submitter
- c.1858+248G>C Single submitter
- c.190+104_190+107del Single submitter
- c.2221+19A>G Single submitter
- c.307+193C>G Single submitter
- c.387+205C>T Single submitter
- c.387+221C>A Single submitter
- c.601-189G>A Single submitter
- c.796-14C>A Single submitter
- c.-196T>C Single submitter
- p.Ile185Val Single submitter ⚠
Benign/Likely benign 7
- c.1366+4T>C Multiple submitters
- p.Ala282= Multiple submitters renal dysplasia, cystic, susceptibility to
- p.Arg800Gln Multiple submitters ⚠
- p.Asn711Thr Multiple submitters
- p.Asn870Asp Multiple submitters
- p.Leu683= Multiple submitters renal dysplasia, cystic, susceptibility to
- p.Val355= Multiple submitters
Likely benign 118
- c.2016-19C>T Multiple submitters renal dysplasia, cystic, susceptibility to
- c.2222-116A>G Multiple submitters
- c.601-59C>T Multiple submitters
- c.-96C>T Multiple submitters
- c.*239C>A Multiple submitters
- p.Gly336= Multiple submitters renal dysplasia, cystic, susceptibility to
- p.Gly821Glu Multiple submitters ⚠
- p.Tyr791= Multiple submitters
- c.1048-14G>A Single submitter
- c.1048-19C>G Single submitter
- c.1048-205C>T Single submitter
- c.1179+12G>A Single submitter
- c.1179+233A>G Single submitter
- c.1180-4A>G Single submitter
- c.1366+292A>C Single submitter
- c.1367-20T>C Single submitter
- c.1725+17A>T Single submitter
- c.191-18G>A Single submitter
- c.2016-12C>A Single submitter
- c.2016-18C>T Single submitter
- c.2181+15A>T Single submitter
- c.2182-182G>A Single submitter
- c.2221+16A>G Single submitter
- c.237+44A>G Single submitter
- c.237+8G>A Single submitter
- c.2377-105G>A Single submitter
- c.2377-19T>C Single submitter
- c.2377-4A>G Single submitter
- c.2377-8G>A Single submitter
- c.238-142dup Single submitter
- c.238-19C>T Single submitter
- c.2694+11_2694+13del Single submitter
- c.2694+14T>G Single submitter
- c.2695-12T>G Single submitter
- c.2695-16A>T Single submitter
- c.2695-31A>G Single submitter
- c.2795-14C>A Single submitter
- c.2795-15T>G Single submitter
- c.2795-18C>T Single submitter
- c.2795-275A>G Single submitter
- c.2795-4C>G Single submitter
- c.308-13T>A Single submitter
- c.308-7C>T Single submitter
- c.387+14A>G Single submitter
- c.387+18A>G Single submitter
- c.387+246A>G Single submitter
- c.387+272T>C Single submitter
- c.547-218A>G Single submitter
- c.600+15C>G Single submitter
- c.600+7A>G Single submitter
- c.601-18C>G Single submitter
- c.601-7A>G Single submitter
- c.796-13C>T Single submitter
- c.796-6T>A Single submitter
- c.*234A>C Single submitter
- p.Ala11= Single submitter
- p.Ala2= Single submitter
- p.Ala435= Single submitter
- p.Ala685= Single submitter
- p.Arg246= Single submitter
- p.Arg700= Single submitter
- p.Arg720Gln Single submitter
- p.Arg947Cys Single submitter
- p.Asn571= Single submitter
- p.Asp34= Single submitter
- p.Asp730= Single submitter
- p.Asp818Gly Single submitter
- p.Asp900Asn Single submitter
- p.Gln369= Single submitter
- p.Gln524Lys Single submitter ⚠
- p.Gly30Ala Single submitter
- p.Gly38Arg Single submitter
- p.Gly863= Single submitter
- p.Ile148= Single submitter
- p.Ile371Val Single submitter
- p.Ile96= Single submitter
- p.Ile967= Single submitter
- p.Leu10= Single submitter
- p.Leu378= Single submitter
- p.Leu41= Single submitter
- p.Leu415= Single submitter
- p.Leu437= Single submitter
- p.Leu450= Single submitter
- p.Leu927= Single submitter
- p.Lys57= Single submitter
- p.Lys69= Single submitter
- p.Lys745= Single submitter
- p.Phe298= Single submitter
- p.Pro104= Single submitter
- p.Pro219= Single submitter
- p.Pro284= Single submitter
- p.Pro321= Single submitter
- p.Pro44Leu Single submitter
- p.Pro577= Single submitter
- p.Pro689= Single submitter
- p.Pro7= Single submitter
- p.Pro768= Single submitter
- p.Pro824= Single submitter
- p.Ser130= Single submitter
- p.Ser330= Single submitter
- p.Ser383Thr Single submitter ⚠
- p.Ser673Asn Single submitter
- p.Ser712= Single submitter
- p.Ser860= Single submitter
- p.Thr251= Single submitter
- p.Thr287= Single submitter
- p.Thr461= Single submitter
- p.Thr561= Single submitter
- p.Thr618= Single submitter
- p.Thr686= Single submitter
- p.Thr749= Single submitter
- p.Thr753= Single submitter
- p.Thr86= Single submitter
- p.Tyr581= Single submitter
- p.Val183= Single submitter
- p.Val482= Single submitter
- p.Val593= Single submitter
- p.Gly809= No assertion criteria BICC1-related disorder
Uncertain significance 257
- p.Ala190Thr Multiple submitters ⚠
- p.Ala276Ser Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Ala523Val Multiple submitters ⚠
- p.Arg302Gln Multiple submitters ⚠
- p.Arg657Lys Multiple submitters ⚠
- p.Arg804His Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Arg839His Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Arg961Cys Multiple submitters ⚠
- p.Asn236Ser Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Asn259Asp Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Asn476Ser Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Asp578Ala Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Asp814Val Multiple submitters ⚠
- p.Cys621Gly Multiple submitters ⚠
- p.Gln486Arg Multiple submitters ⚠
- p.Glu932Gly Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Gly539Arg Multiple submitters ⚠
- p.Gly620Asp Multiple submitters ⚠
- p.His573Arg Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.His670Gln Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Ile384Val Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Ile424Arg Multiple submitters ⚠
- p.Ile514Leu Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Leu775Met Multiple submitters BICC1-related disorder ⚠
- p.Met123Leu Multiple submitters ⚠
- p.Met559Val Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Met61Val Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Met855Val Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Pro386Ala Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Pro545Thr Multiple submitters ⚠
- p.Pro547Ala Multiple submitters ⚠
- p.Pro824His Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Ser14Leu Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Ser637Tyr Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Thr331Ala Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Thr541Arg Multiple submitters ⚠
- p.Thr666Ala Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Thr666Met Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Thr845Lys Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Thr845Met Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Val264Leu Multiple submitters renal dysplasia, cystic, susceptibility to ⚠
- p.Val970Asp Multiple submitters ⚠
- c.1047+4A>G Single submitter
- c.1179+1G>A Single submitter
- c.1242_1366+680del Single submitter
- c.1528+4A>G Single submitter renal dysplasia, cystic, susceptibility to
- c.1725+3_1725+6dup Single submitter renal dysplasia, cystic, susceptibility to
- c.1858+1G>T Single submitter renal dysplasia, cystic, susceptibility to
- c.1858+4G>A Single submitter renal dysplasia, cystic, susceptibility to
- c.2221+4T>C Single submitter
- c.2794+5A>G Single submitter
- c.388-3T>C Single submitter
- c.547-3T>C Single submitter
- c.600+1G>A Single submitter renal dysplasia, cystic, susceptibility to
- p.Ala11Gly Single submitter ⚠
- p.Ala12Gly Single submitter ⚠
- p.Ala186Val Single submitter ⚠
- p.Ala372Val Single submitter ⚠
- p.Ala37Ser Single submitter ⚠
- p.Ala438Glu Single submitter ⚠
- p.Ala477Val Single submitter ⚠
- p.Ala503Thr Single submitter ⚠
- p.Ala583Thr Single submitter ⚠
- p.Ala702Val Single submitter ⚠
- p.Ala741Thr Single submitter ⚠
- p.Ala778Asp Single submitter ⚠
- p.Ala778Glu Single submitter
- p.Ala929= Single submitter renal dysplasia, cystic, susceptibility to
- p.Arg132Gln Single submitter ⚠
- p.Arg132Ter Single submitter renal dysplasia, cystic, susceptibility to
- p.Arg196Ter Single submitter
- p.Arg200Trp Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Arg244His Single submitter ⚠
- p.Arg246Gln Single submitter ⚠
- p.Arg246Ter Single submitter renal dysplasia, cystic, susceptibility to
- p.Arg313Gly Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Arg700Cys Single submitter ⚠
- p.Arg720Trp Single submitter ⚠
- p.Arg777Ser Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Arg800Leu Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Arg800Trp Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Arg819Ter Single submitter
- p.Arg937Gln Single submitter ⚠
- p.Arg938Gly Single submitter ⚠
- p.Arg958Thr Single submitter ⚠
- p.Arg961His Single submitter ⚠
- p.Arg973Cys Single submitter ⚠
- p.Arg973His Single submitter ⚠
- p.Asn153Ser Single submitter ⚠
- p.Asn236Thr Single submitter ⚠
- p.Asn259Ser Single submitter ⚠
- p.Asn466Ser Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Asn472Asp Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Asn622Ser Single submitter ⚠
- p.Asn668Asp Single submitter ⚠
- p.Asn842Lys Single submitter ⚠
- p.Asn868_Leu869= Single submitter
- p.Asn870His Single submitter ⚠
- p.Asn945Asp Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Asp15Glu Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Asp25Asn Single submitter ⚠
- p.Asp33Val Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Asp443Asn Single submitter ⚠
- p.Asp553Glu Single submitter ⚠
- p.Asp600Asn Single submitter ⚠
- p.Asp600Gly Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Asp877His Single submitter ⚠
- p.Cys342fs Single submitter renal dysplasia, cystic, susceptibility to
- p.Cys654Tyr Single submitter ⚠
- p.Gln176Leu Single submitter ⚠
- p.Gln218His Single submitter ⚠
- p.Gln218Pro Single submitter ⚠
- p.Gln288Leu Single submitter ⚠
- p.Gln727Glu Single submitter ⚠
- p.Gln896Glu Single submitter ⚠
- p.Glu113Asp Single submitter ⚠
- p.Glu160Gly Single submitter ⚠
- p.Glu160Lys Single submitter ⚠
- p.Glu210Asp Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Glu661Ala Single submitter ⚠
- p.Glu713Gln Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Glu829Ala Single submitter ⚠
- p.Glu829Gln Single submitter ⚠
- p.Glu898Ala Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Gly149Ser Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Gly163Arg Single submitter ⚠
- p.Gly191= Single submitter renal dysplasia, cystic, susceptibility to
- p.Gly436Cys Single submitter ⚠
- p.Gly449= Single submitter renal dysplasia, cystic, susceptibility to
- p.Gly548Cys Single submitter ⚠
- p.Gly599Arg Single submitter ⚠
- p.Gly5Ala Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Gly607Ala Single submitter ⚠
- p.Gly620Val Single submitter ⚠
- p.Gly641Ser Single submitter ⚠
- p.Gly70Ser Single submitter ⚠
- p.Gly809Asp Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Gly823Val Single submitter ⚠
- p.Gly875Ser Single submitter ⚠
- p.Gly972Ser Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.His141fs Single submitter renal dysplasia, cystic, susceptibility to
- p.His555Arg Single submitter ⚠
- p.His573Tyr Single submitter ⚠
- p.His672Arg Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.His672Asp Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Ile155Thr Single submitter ⚠
- p.Ile228Leu Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Ile310Thr Single submitter ⚠
- p.Ile424Val Single submitter ⚠
- p.Ile444Thr Single submitter ⚠
- p.Ile530Val Single submitter ⚠
- p.Ile566Val Single submitter ⚠
- p.Ile88Val Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Leu202Arg Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Leu297Pro Single submitter ⚠
- p.Leu35Phe Single submitter ⚠
- p.Leu35Trp Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Leu475Phe Single submitter ⚠
- p.Leu502Phe Single submitter ⚠
- p.Leu671fs Single submitter renal dysplasia, cystic, susceptibility to
- p.Leu717Phe Single submitter ⚠
- p.Leu807Phe Single submitter ⚠
- p.Leu912Met Single submitter ⚠
- p.Leu951= Single submitter renal dysplasia, cystic, susceptibility to
- p.Lys385Thr Single submitter ⚠
- p.Lys387Asn Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Lys580Glu Single submitter ⚠
- p.Lys79= Single submitter
- p.Lys889Thr Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Lys939Ter Single submitter renal dysplasia, cystic, susceptibility to
- p.Met123Ile Single submitter ⚠
- p.Met137Ile Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Met137Val Single submitter ⚠
- p.Met159Val Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Met311Ile Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Met349Val Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Met375Ile Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Met559Lys Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Met647Val Single submitter ⚠
- p.Met726Leu Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Met767Thr Single submitter ⚠
- p.Phe320Cys Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Phe320Leu Single submitter ⚠
- p.Phe370Leu Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Phe381Leu Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Phe904Ser Single submitter ⚠
- p.Pro169= Single submitter renal dysplasia, cystic, susceptibility to
- p.Pro169Arg Single submitter ⚠
- p.Pro16Thr Single submitter ⚠
- p.Pro219Leu Single submitter ⚠
- p.Pro221His Single submitter ⚠
- p.Pro223Thr Single submitter ⚠
- p.Pro226Arg Single submitter ⚠
- p.Pro323Arg Single submitter ⚠
- p.Pro326Thr Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Pro434Leu Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Pro440Leu Single submitter ⚠
- p.Pro44Ala Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Pro495Ser Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Pro520Ser Single submitter ⚠
- p.Pro546Thr Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Pro547Arg Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Pro547His Single submitter ⚠
- p.Pro689Ser Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Pro719Ser Single submitter ⚠
- p.Pro785Thr Single submitter ⚠
- p.Ser245Thr Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Ser286= Single submitter
- p.Ser419Asn Single submitter ⚠
- p.Ser427Ile Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Ser43Arg Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Ser43Ile Single submitter ⚠
- p.Ser473Thr Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Ser47fs Single submitter renal dysplasia, cystic, susceptibility to
- p.Ser506Leu Single submitter ⚠
- p.Ser507Asn Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Ser507Gly Single submitter ⚠
- p.Ser721delinsLeuThr Single submitter
- p.Ser782Cys Single submitter ⚠
- p.Ser794Leu Single submitter ⚠
- p.Ser794Thr Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Ser797Pro Single submitter ⚠
- p.Ser799Leu Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Ser826Asn Single submitter ⚠
- p.Ser828Gly Single submitter ⚠
- p.Ser836Ile Single submitter ⚠
- p.Ser859Phe Single submitter ⚠
- p.Ser860Leu Single submitter ⚠
- p.Ser871Thr Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Ser971Thr Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Thr142Ala Single submitter ⚠
- p.Thr234Met Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Thr461Asn Single submitter ⚠
- p.Thr461Ile Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Thr462Asn Single submitter ⚠
- p.Thr469Ala Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Thr469fs Single submitter renal dysplasia, cystic, susceptibility to
- p.Thr550Ile Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Thr749Ala Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Thr753Met Single submitter ⚠
- p.Thr786Pro Single submitter ⚠
- p.Thr908Ser Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Thr919Ala Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Trp46Cys Single submitter ⚠
- p.Trp758Cys Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Tyr248Cys Single submitter ⚠
- p.Tyr783Cys Single submitter ⚠
- p.Tyr848Cys Single submitter ⚠
- p.Tyr9_Gly17del Single submitter renal dysplasia, cystic, susceptibility to
- p.Tyr9Phe Single submitter ⚠
- p.Val133Leu Single submitter renal dysplasia, cystic, susceptibility to ⚠
- p.Val36Leu Single submitter ⚠
- p.Val554Gly Single submitter ⚠
- p.Val660fs Single submitter renal dysplasia, cystic, susceptibility to
- p.Val747Ala Single submitter ⚠
- p.Gln335His No assertion criteria congenital anomaly of kidney and urinary tract ⚠
- p.Leu589Val No assertion criteria ⚠