VPS33B — 590 ClinVar variants

All ClinVar germline VPS33B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 194 flagged for review →

28 Pathogenic · 7 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 24 Conflicting · 61 Benign · 19 Benign/Likely benign · 170 Likely benign · 255 Uncertain significance

Full VPS33B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 194

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 4

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

VPS33B p.His227Arg Conflicting Single submitter
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Ile383Thr Conflicting Single submitter
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Phe572Val Conflicting Single submitter
VPS33B p.Ser97Asn Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 139

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

VPS33B p.Ala606Thr Uncertain significance Multiple submitters
VPS33B-related disorder
VPS33B p.Arg107Gln Uncertain significance Multiple submitters
keratoderma-ichthyosis-deafness syndrome, autosomal recessive
VPS33B p.Arg109His Uncertain significance Multiple submitters
VPS33B-related disorder
VPS33B p.Arg221Gln Uncertain significance Multiple submitters
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Arg256His Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Arg290Gln Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Arg290Trp Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Arg306Gln Uncertain significance Multiple submitters
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Arg389Trp Uncertain significance Multiple submitters
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Arg398Cys Uncertain significance Multiple submitters
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Arg398His Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Arg496His Uncertain significance Multiple submitters
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Arg507Gln Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Arg532Gln Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Arg585Gln Uncertain significance Multiple submitters
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Arg88His Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Asn100Ser Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Asn436Ser Uncertain significance Multiple submitters
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Asn54Ser Uncertain significance Multiple submitters
VPS33B p.Asp263Asn Uncertain significance Multiple submitters
VPS33B p.Asp465Asn Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Asp558His Uncertain significance Multiple submitters
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Glu213Lys Uncertain significance Multiple submitters
keratoderma-ichthyosis-deafness syndrome, autosomal recessive
VPS33B p.Glu557Ala Uncertain significance Multiple submitters
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Gly216Ser Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Gly299Ala Uncertain significance Multiple submitters
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Ile41Thr Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Leu182Pro Uncertain significance Multiple submitters
VPS33B p.Leu45Val Uncertain significance Multiple submitters
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Leu567Phe Uncertain significance Multiple submitters
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Lys353Gln Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Met400Val Uncertain significance Multiple submitters
VPS33B p.Phe15Ser Uncertain significance Multiple submitters
keratoderma-ichthyosis-deafness syndrome, autosomal recessive
VPS33B p.Pro189Ser Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Pro73Thr Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Ser243Phe Uncertain significance Multiple submitters
keratoderma-ichthyosis-deafness syndrome, autosomal recessive
VPS33B p.Ser562Asn Uncertain significance Multiple submitters
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Ser613Cys Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Thr444Met Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Thr451Ala Uncertain significance Multiple submitters
VPS33B-related disorder
VPS33B p.Thr599Met Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Tyr133Phe Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Tyr312His Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Val455Met Uncertain significance Multiple submitters
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Val512Ile Uncertain significance Multiple submitters
VPS33B p.Ala105Ser Uncertain significance Single submitter
VPS33B p.Ala122Val Uncertain significance Single submitter
VPS33B p.Ala2Val Uncertain significance Single submitter
VPS33B p.Ala305Ser Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Ala510Val Uncertain significance Single submitter
VPS33B p.Ala9Asp Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Arg198Lys Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Arg233Gly Uncertain significance Single submitter
VPS33B p.Arg315Trp Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Arg339His Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Arg377Gln Uncertain significance Single submitter
VPS33B p.Arg377Trp Uncertain significance Single submitter
VPS33B p.Arg398Pro Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Arg438Gln Uncertain significance Single submitter
VPS33B p.Arg507Gly Uncertain significance Single submitter
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Arg523Gln Uncertain significance Single submitter
VPS33B p.Arg531Trp Uncertain significance Single submitter
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Arg566His Uncertain significance Single submitter
VPS33B p.Arg589Lys Uncertain significance Single submitter
VPS33B p.Arg594Lys Uncertain significance Single submitter
VPS33B p.Arg93Leu Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Asn375Asp Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Asn91Ile Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Asp139Asn Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Asp465Glu Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Asp502Asn Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Cys138Tyr Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Cys401Arg Uncertain significance Single submitter
VPS33B p.Cys546Tyr Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Gln178Arg Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Gln358Leu Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Gln421Pro Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Gln535Arg Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Glu211Lys Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Glu213Val Uncertain significance Single submitter
VPS33B p.Glu282Lys Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Glu456Asp Uncertain significance Single submitter
VPS33B p.Glu500Lys Uncertain significance Single submitter
VPS33B p.Glu530Gln Uncertain significance Single submitter
VPS33B p.Glu557Gln Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Gly197Asp Uncertain significance Single submitter
VPS33B p.Gly220Arg Uncertain significance Single submitter
VPS33B p.Gly260Glu Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Gly499Ser Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Gly574Ser Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.His386Pro Uncertain significance Single submitter
VPS33B p.Ile345Phe Uncertain significance Single submitter
VPS33B p.Ile364Met Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Ile383Val Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Ile387Val Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Ile394Val Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Leu145Ser Uncertain significance Single submitter
thrombocytopenia
VPS33B p.Leu182Val Uncertain significance Single submitter
VPS33B p.Leu186Pro Uncertain significance Single submitter
VPS33B p.Leu21Val Uncertain significance Single submitter
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Leu432Ile Uncertain significance Single submitter
VPS33B p.Leu520Pro Uncertain significance Single submitter
VPS33B p.Lys219Glu Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Lys37Gln Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Lys466Gln Uncertain significance Single submitter
VPS33B p.Lys470Arg Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Met17Lys Uncertain significance Single submitter
VPS33B p.Met554Thr Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Met554Val Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Met609Ile Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Met92Leu Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Phe115Cys Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Pro147Leu Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Pro191Ser Uncertain significance Single submitter
VPS33B p.Pro448Ser Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Pro7Ser Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Ser137Asn Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Ser144Ala Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Ser328Phe Uncertain significance Single submitter
VPS33B p.Ser417Thr Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Ser562Ile Uncertain significance Single submitter
VPS33B p.Ser77Pro Uncertain significance Single submitter
VPS33B p.Thr254Ser Uncertain significance Single submitter
VPS33B p.Thr269Ile Uncertain significance Single submitter
VPS33B p.Thr420Ile Uncertain significance Single submitter
VPS33B p.Thr433Asn Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Thr453Ala Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Thr552Pro Uncertain significance Single submitter
VPS33B p.Thr555Ser Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Thr577Ile Uncertain significance Single submitter
VPS33B p.Thr603Ala Uncertain significance Single submitter
VPS33B p.Thr603Lys Uncertain significance Single submitter
VPS33B p.Tyr28His Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Tyr382His Uncertain significance Single submitter
VPS33B p.Val327Met Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Val55Ile Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Val570Met Uncertain significance Single submitter
VPS33B p.Ala474Pro Uncertain significance No assertion criteria
microcephaly
VPS33B p.Asp319Gly Uncertain significance No assertion criteria
VPS33B-related disorder

Predictors split 51

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

VPS33B p.Arg256Cys Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Arg314His Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Arg339Cys Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Arg339Gly Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Arg51Gln Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Arg523Gly Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Asp253Asn Uncertain significance Multiple submitters
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Leu45Ile Uncertain significance Multiple submitters
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Met155Ile Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Met46Leu Uncertain significance Multiple submitters
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Tyr501His Uncertain significance Multiple submitters
Inborn genetic diseases
VPS33B p.Ala105Val Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Ala200Val Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Arg566Cys Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Arg594Gly Conflicting Single submitter
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Asn78Asp Uncertain significance Single submitter
VPS33B p.Cys522Tyr Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Gln32His Uncertain significance Single submitter
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Glu156Asp Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Glu267Val Uncertain significance Single submitter
VPS33B p.Glu378Gly Uncertain significance Single submitter
VPS33B p.Glu456Gly Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Gly469Arg Uncertain significance Single submitter
VPS33B p.Gly514Arg Uncertain significance Single submitter
VPS33B p.His227Pro Uncertain significance Single submitter
VPS33B p.Ile196Thr Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Ile345Thr Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Ile568Asn Uncertain significance Single submitter
VPS33B p.Leu567Pro Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Leu573Phe Uncertain significance Single submitter
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Lys36Asn Uncertain significance Single submitter
VPS33B p.Lys59Asn Uncertain significance Single submitter
VPS33B p.Lys68Gln Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Phe115Leu Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Phe15Leu Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Phe15Tyr Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Phe160Leu Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Phe161Leu Uncertain significance Single submitter
VPS33B p.Pro191Arg Uncertain significance Single submitter
arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B p.Pro266Leu Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Pro506Ala Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Ser342Cys Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Ser425Asn Conflicting Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Ser488Arg Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Ser564Pro Uncertain significance Single submitter
VPS33B p.Ser605Asn Uncertain significance Single submitter
Inborn genetic diseases
VPS33B p.Thr356Ile Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Trp172Arg Uncertain significance Single submitter
VPS33B p.Tyr194Ser Uncertain significance Single submitter
cholestasis, progressive familial intrahepatic, 12
VPS33B p.Tyr382Asn Uncertain significance Single submitter
VPS33B p.His344Asn Uncertain significance No assertion criteria

All VPS33B variants

Pathogenic 28

c.403+2T>A Multiple submitters cholestasis, progressive familial intrahepatic, 12
p.Arg416Ter Multiple submitters keratoderma-ichthyosis-deafness syndrome, autosomal recessive
p.Arg438Ter Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Arg507Ter Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Arg51Ter Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Arg523Ter Multiple submitters cholestasis, progressive familial intrahepatic, 12
p.Leu81fs Multiple submitters cholestasis, progressive familial intrahepatic, 12
p.Lys504fs Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Pro117fs Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Pro412fs Multiple submitters cholestasis, progressive familial intrahepatic, 12
p.Tyr28Ter Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
c.1106-35_1106-7delinsGGT Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.1479+1G>A Single submitter
c.290-2_291del Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.778+2T>G Single submitter
c.940-2A>G Single submitter
p.Arg23Ter Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Arg532Ter Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Asp450fs Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Glu539fs Single submitter
p.Leu278fs Single submitter Inborn genetic diseases
p.Leu584Pro Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Trp172Ter Single submitter
c.240-577_290-156del No assertion criteria arthrogryposis, renal dysfunction, and cholestasis 1
c.700+1G>A No assertion criteria arthrogryposis, renal dysfunction, and cholestasis 1
p.Cys576Arg No assertion criteria cholestasis, progressive familial intrahepatic, 12
p.Gln421fs No assertion criteria arthrogryposis, renal dysfunction, and cholestasis 1
p.Leu30Pro No assertion criteria arthrogryposis, renal dysfunction, and cholestasis 1

Pathogenic/Likely pathogenic 7

c.1225+5G>C Multiple submitters Inborn genetic diseases
c.239+5G>A Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
c.240-1G>C Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Arg107Ter Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Arg542fs Multiple submitters keratoderma-ichthyosis-deafness syndrome, autosomal recessive
p.Arg93Ter Multiple submitters Autosomal recessive VPS33B-related disorders
p.Glu500Ter Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1

Likely pathogenic 26

c.1030+1G>A Multiple submitters cholestasis, progressive familial intrahepatic, 12
c.1106-2A>C Single submitter Inborn genetic diseases
c.1480-1G>T Single submitter cholestasis, progressive familial intrahepatic, 12
c.1609_1657+9del Single submitter
c.177+1G>A Single submitter cholestasis, progressive familial intrahepatic, 12
c.290-1G>A Single submitter cholestasis, progressive familial intrahepatic, 12
c.290-1G>C Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.357+1G>A Single submitter VPS33B-related disorder
c.701-1G>A Single submitter
c.778+1G>T Single submitter cholestasis, progressive familial intrahepatic, 12
c.853-1G>C Single submitter cholestasis, progressive familial intrahepatic, 12
c.96+1G>T Single submitter
p.Arg585fs Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Glu224fs Single submitter cholestasis, progressive familial intrahepatic, 12
p.Gly131Glu Single submitter keratoderma-ichthyosis-deafness syndrome, autosomal recessive
p.Leu153del Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Lys201fs Single submitter cholestasis, progressive familial intrahepatic, 12
p.Lys413fs Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Pro428fs Single submitter cholestasis, progressive familial intrahepatic, 12
p.Trp534Ter Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Tyr187fs Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.1480-1G>A No assertion criteria VPS33B-related disorder
p.Leu166= No assertion criteria arthrogryposis, renal dysfunction, and cholestasis 1
p.Phe298fs No assertion criteria VPS33B-related disorder
p.Ser488fs No assertion criteria VPS33B-related disorder
p.Trp207Ter No assertion criteria arthrogryposis, renal dysfunction, and cholestasis 1

Conflicting classifications of pathogenicity 24

c.1105+10G>A Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.1170+5G>A Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.1171-6A>G Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.1658-7C>T Single submitter
c.1775-14A>G Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.240-9C>T Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.498+4A>G Single submitter keratoderma-ichthyosis-deafness syndrome, autosomal recessive
p.Ala454= Single submitter
p.Ala583= Single submitter
p.Ala617= Single submitter
p.Arg315Gln Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Arg594Gly Single submitter arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Asn296= Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Asp135Asn Single submitter keratoderma-ichthyosis-deafness syndrome, autosomal recessive
p.Gln25= Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.His227Arg Single submitter arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Ile383Thr Single submitter arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Leu152= Single submitter
p.Leu403= Single submitter
p.Leu462= Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Leu66= Single submitter
p.Phe572Val Single submitter ⚠
p.Ser425Asn Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Ser97Asn Single submitter Inborn genetic diseases ⚠

Benign 61

c.1105+9C>T Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
c.1226-106A>T Multiple submitters
c.1226-136A>C Multiple submitters
c.1273-123A>G Multiple submitters
c.1273-51A>G Multiple submitters
c.1405+69G>A Multiple submitters
c.1406-139G>A Multiple submitters
c.1406-153G>A Multiple submitters
c.1406-208G>A Multiple submitters
c.1480-255T>C Multiple submitters
c.1582-202G>A Multiple submitters
c.177+175C>G Multiple submitters
c.1774+106G>A Multiple submitters
c.1774+112G>A Multiple submitters
c.1775-53G>A Multiple submitters
c.178-113C>A Multiple submitters
c.239+115A>G Multiple submitters
c.239+60C>T Multiple submitters
c.290-85G>A Multiple submitters
c.357+97C>A Multiple submitters
c.403+72C>T Multiple submitters
c.498+147G>C Multiple submitters
c.603+35C>T Multiple submitters
c.778+60C>G Multiple submitters
c.97-67G>A Multiple submitters
c.-325T>C Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Ala203= Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Cys199= Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Glu557= Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Gly216= Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Gly514Ser Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Thr552= Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
c.1105+35G>A Single submitter
c.1226-252C>T Single submitter
c.1272+203C>T Single submitter
c.1272+226dup Single submitter
c.1479+202T>C Single submitter
c.1479+62dup Single submitter
c.1479+78_1479+79del Single submitter
c.1479+79del Single submitter
c.1581+200G>A Single submitter
c.1581+77dup Single submitter
c.1582-78_1582-77del Single submitter
c.1774+168C>G Single submitter
c.1775-198del Single submitter
c.1775-232T>C Single submitter
c.1775-265del Single submitter
c.1775-276dup Single submitter
c.239+272T>C Single submitter
c.240-16del Single submitter
c.240-16dup Single submitter
c.289+142dup Single submitter
c.289+164del Single submitter
c.290-118C>T Single submitter
c.358-227G>A Single submitter
c.358-306C>G Single submitter
c.404-266T>C Single submitter
c.498+117A>G Single submitter
c.700+16C>T Single submitter
c.852+66_852+90del Single submitter
c.-271A>C Single submitter arthrogryposis, renal dysfunction, and cholestasis 1

Benign/Likely benign 19

c.1405+36G>A Multiple submitters
c.1406-20G>C Multiple submitters
c.1480-20G>A Multiple submitters
c.240-13_240-12del Multiple submitters
c.289+18C>G Multiple submitters
c.604-14T>C Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
c.779-17T>A Multiple submitters
c.852+13G>A Multiple submitters
c.-7C>G Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
c.-8C>T Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
c.*16G>C Multiple submitters
p.Ala281Gly Multiple submitters
p.Arg389Gln Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Arg51= Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Leu567= Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Lys119= Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Thr444= Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Thr464= Multiple submitters
p.Tyr121= Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1

Likely benign 170

c.1105+61C>T Multiple submitters
c.1272+81G>C Multiple submitters
c.1581+183C>A Multiple submitters
c.1581+79T>G Multiple submitters
c.1581+82T>G Multiple submitters
c.178-17T>C Multiple submitters
c.240-89A>C Multiple submitters
c.289+41C>T Multiple submitters
c.290-193T>G Multiple submitters
c.357+48G>A Multiple submitters
c.357+72A>G Multiple submitters
c.498+16C>T Multiple submitters
c.604-173A>G Multiple submitters
c.700+17G>A Multiple submitters
c.700+83C>G Multiple submitters
c.778+10A>G Multiple submitters
c.939+32T>C Multiple submitters
c.96+233G>A Multiple submitters
c.97-16A>G Multiple submitters
p.His61= Multiple submitters
p.Leu275= Multiple submitters
p.Thr108= Multiple submitters
c.1030+13T>C Single submitter
c.1031-11C>T Single submitter
c.1105+14C>A Single submitter
c.1105+9C>G Single submitter
c.1106-120T>C Single submitter
c.1106-14C>G Single submitter
c.1170+19G>A Single submitter
c.1171-16C>A Single submitter
c.1171-18T>G Single submitter
c.1171-8C>T Single submitter
c.1225+10A>C Single submitter
c.1226-11T>G Single submitter
c.1226-174C>T Single submitter
c.1226-6T>G Single submitter
c.1272+16T>C Single submitter
c.1272+211G>A Single submitter
c.1273-15T>C Single submitter
c.1273-17A>G Single submitter
c.1273-6C>T Single submitter
c.1405+10G>A Single submitter
c.1405+16A>G Single submitter
c.1406-13A>G Single submitter
c.1406-14G>C Single submitter
c.1406-282_1406-279del Single submitter
c.1479+18G>A Single submitter
c.1479+7G>A Single submitter
c.1479+8G>T Single submitter
c.1480-11T>C Single submitter
c.1480-12T>A Single submitter
c.1581+14A>G Single submitter
c.1581+166C>G Single submitter
c.1582-74C>G Single submitter
c.1657+19G>T Single submitter
c.1658-10dup Single submitter
c.1658-15G>T Single submitter
c.1658-36G>A Single submitter
c.177+20G>A Single submitter
c.177+9C>A Single submitter
c.1774+14G>A Single submitter
c.1774+9G>A Single submitter
c.1775-130dup Single submitter
c.1775-135del Single submitter
c.1775-7T>C Single submitter
c.178-10C>T Single submitter
c.178-99C>A Single submitter
c.239+13G>A Single submitter
c.239+15G>T Single submitter
c.239+16A>G Single submitter
c.239+16A>T Single submitter
c.239+17G>A Single submitter
c.239+20T>C Single submitter
c.240-11C>T Single submitter
c.289+129_289+131dup Single submitter
c.289+160_289+164del Single submitter
c.289+17del Single submitter
c.289+7G>A Single submitter
c.290-12T>C Single submitter
c.357+13C>T Single submitter
c.358-7C>T Single submitter
c.403+16T>C Single submitter
c.403+17G>C Single submitter
c.403+57GTT[2] Single submitter
c.403+7G>C Single submitter
c.403+8_403+10del Single submitter
c.404-10G>A Single submitter
c.404-16C>T Single submitter
c.404-20G>A Single submitter
c.498+12G>A Single submitter
c.498+15C>T Single submitter
c.498+17T>C Single submitter
c.498+7G>T Single submitter
c.603+11T>C Single submitter
c.700+10G>A Single submitter
c.700+15G>C Single submitter
c.701-11C>G Single submitter
c.701-45G>A Single submitter
c.779-11T>C Single submitter
c.779-19T>C Single submitter
c.853-10G>T Single submitter
c.853-13A>C Single submitter
c.853-20T>C Single submitter
c.853-5C>T Single submitter
c.939+9C>T Single submitter
c.940-15G>A Single submitter
c.940-8T>C Single submitter
c.940-8T>G Single submitter
c.940-9T>C Single submitter
c.96+146G>A Single submitter
c.96+14T>C Single submitter
c.96+8C>T Single submitter
c.97-12T>C Single submitter
c.97-20A>G Single submitter
c.97-7C>T Single submitter
c.-269T>C Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Ala122= Single submitter
p.Ala550= Single submitter
p.Arg542= Single submitter
p.Arg594= Single submitter
p.Asn291= Single submitter
p.Asn492= Single submitter
p.Asn54= Single submitter
p.Asp102= Single submitter
p.Asp234= Single submitter
p.Asp263= Single submitter
p.Gln309= Single submitter
p.Glu11= Single submitter
p.Glu214= Single submitter
p.Glu248= Single submitter
p.Glu292= Single submitter
p.Glu610= Single submitter
p.Gly220= Single submitter
p.Gly317= Single submitter
p.Gly469= Single submitter
p.Gly574= Single submitter
p.Gly575= Single submitter
p.Ile581= Single submitter
p.Ile596= Single submitter
p.Ile95= Single submitter
p.Leu153= Single submitter
p.Leu180= Single submitter
p.Leu186= Single submitter
p.Leu301= Single submitter
p.Leu437= Single submitter
p.Leu442= Single submitter
p.Leu573= Single submitter
p.Lys110= Single submitter
p.Phe551= Single submitter
p.Pro266= Single submitter
p.Pro519= Single submitter
p.Ser271= Single submitter
p.Ser274= Single submitter
p.Ser392= Single submitter
p.Ser605= Single submitter
p.Ter618= Single submitter
p.Thr555= Single submitter
p.Thr577= Single submitter
p.Thr599= Single submitter
p.Tyr204= Single submitter
p.Tyr511= Single submitter
p.Val285= Single submitter
p.Val571= Single submitter
p.Val602= Single submitter
c.1480-4dup No assertion criteria VPS33B-related disorder
c.499-17T>C No assertion criteria VPS33B-related disorder
c.852+9G>A No assertion criteria VPS33B-related disorder
p.Ile525= No assertion criteria VPS33B-related disorder
p.Phe298= No assertion criteria VPS33B-related disorder
p.Pro10= No assertion criteria VPS33B-related disorder

Uncertain significance 255

c.1170+4C>T Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
c.499-3C>G Multiple submitters keratoderma-ichthyosis-deafness syndrome, autosomal recessive
c.-131G>A Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
c.*125C>T Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Ala606Thr Multiple submitters VPS33B-related disorder ⚠
p.Arg107Gln Multiple submitters keratoderma-ichthyosis-deafness syndrome, autosomal recessive ⚠
p.Arg109His Multiple submitters VPS33B-related disorder ⚠
p.Arg171His Multiple submitters Inborn genetic diseases
p.Arg221Gln Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Arg256Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg256His Multiple submitters Inborn genetic diseases ⚠
p.Arg290Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg290Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg306Gln Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Arg314His Multiple submitters Inborn genetic diseases ⚠
p.Arg339Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg339Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg389Trp Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Arg398Cys Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Arg398His Multiple submitters Inborn genetic diseases ⚠
p.Arg485His Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Arg496His Multiple submitters cholestasis, progressive familial intrahepatic, 12 ⚠
p.Arg507Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg51Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg523Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg532Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg542Gln Multiple submitters
p.Arg585Gln Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Arg88His Multiple submitters Inborn genetic diseases ⚠
p.Asn100Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn436Ser Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Asn54Ser Multiple submitters ⚠
p.Asp253Asn Multiple submitters cholestasis, progressive familial intrahepatic, 12 ⚠
p.Asp263Asn Multiple submitters ⚠
p.Asp465Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp558His Multiple submitters cholestasis, progressive familial intrahepatic, 12 ⚠
p.Glu213Lys Multiple submitters keratoderma-ichthyosis-deafness syndrome, autosomal recessive ⚠
p.Glu292Lys Multiple submitters keratoderma-ichthyosis-deafness syndrome, autosomal recessive
p.Glu557Ala Multiple submitters cholestasis, progressive familial intrahepatic, 12 ⚠
p.Glu614Leu Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1
p.Gly216Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly299Ala Multiple submitters cholestasis, progressive familial intrahepatic, 12 ⚠
p.Ile41Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu182Pro Multiple submitters ⚠
p.Leu45_Met46delinsIleLeu Multiple submitters keratoderma-ichthyosis-deafness syndrome, autosomal recessive
p.Leu45Ile Multiple submitters cholestasis, progressive familial intrahepatic, 12 ⚠
p.Leu45Val Multiple submitters cholestasis, progressive familial intrahepatic, 12 ⚠
p.Leu567Phe Multiple submitters cholestasis, progressive familial intrahepatic, 12 ⚠
p.Lys353Gln Multiple submitters Inborn genetic diseases ⚠
p.Met155Ile Multiple submitters Inborn genetic diseases ⚠
p.Met400Val Multiple submitters ⚠
p.Met46Leu Multiple submitters cholestasis, progressive familial intrahepatic, 12 ⚠
p.Phe15Ser Multiple submitters keratoderma-ichthyosis-deafness syndrome, autosomal recessive ⚠
p.Pro189Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro73Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser243Phe Multiple submitters keratoderma-ichthyosis-deafness syndrome, autosomal recessive ⚠
p.Ser562Asn Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Ser613Cys Multiple submitters Inborn genetic diseases ⚠
p.Thr444Met Multiple submitters Inborn genetic diseases ⚠
p.Thr451Ala Multiple submitters VPS33B-related disorder ⚠
p.Thr599Met Multiple submitters Inborn genetic diseases ⚠
p.Tyr133Phe Multiple submitters Inborn genetic diseases ⚠
p.Tyr28Cys Multiple submitters Inborn genetic diseases
p.Tyr312His Multiple submitters Inborn genetic diseases ⚠
p.Tyr501His Multiple submitters Inborn genetic diseases ⚠
p.Val455Met Multiple submitters arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Val512Ile Multiple submitters ⚠
c.1031-10C>T Single submitter cholestasis, progressive familial intrahepatic, 12
c.1031-8A>G Single submitter
c.1226-3T>C Single submitter
c.1479+3A>T Single submitter cholestasis, progressive familial intrahepatic, 12
c.1657+4T>G Single submitter
c.177+3A>G Single submitter
c.177+5T>A Single submitter
c.1774+3A>G Single submitter cholestasis, progressive familial intrahepatic, 12
c.403+3G>A Single submitter
c.404-14C>G Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.604-3C>A Single submitter
c.701-18C>G Single submitter cholestasis, progressive familial intrahepatic, 12
c.701-7_701-6del Single submitter
c.701-8_701-5delinsGA Single submitter
c.852+6G>A Single submitter cholestasis, progressive familial intrahepatic, 12
c.853-12C>G Single submitter cholestasis, progressive familial intrahepatic, 12
c.939+5G>A Single submitter
c.96+18_96+19delinsAT Single submitter
c.-120G>A Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.-137A>G Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.-275C>G Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.-299T>G Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.-335C>T Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.*10C>T Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.*113G>A Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.*155A>G Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.*261T>A Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.*262T>G Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.*346A>T Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Ala105Ser Single submitter ⚠
p.Ala105Val Single submitter Inborn genetic diseases ⚠
p.Ala122Val Single submitter ⚠
p.Ala200Thr Single submitter
p.Ala200Val Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Ala22Val Single submitter cholestasis, progressive familial intrahepatic, 12
p.Ala2Val Single submitter ⚠
p.Ala305Ser Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Ala510Val Single submitter ⚠
p.Ala9Asp Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Arg198Lys Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Arg233Gly Single submitter ⚠
p.Arg306Trp Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Arg315Trp Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Arg339His Single submitter Inborn genetic diseases ⚠
p.Arg377Gln Single submitter ⚠
p.Arg377Trp Single submitter ⚠
p.Arg398Pro Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Arg438Gln Single submitter ⚠
p.Arg507Gly Single submitter arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Arg523Gln Single submitter ⚠
p.Arg531Trp Single submitter arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Arg566Cys Single submitter Inborn genetic diseases ⚠
p.Arg566His Single submitter ⚠
p.Arg566Pro Single submitter cholestasis, progressive familial intrahepatic, 12
p.Arg589Lys Single submitter ⚠
p.Arg594Lys Single submitter ⚠
p.Arg607His Single submitter Inborn genetic diseases
p.Arg93Leu Single submitter Inborn genetic diseases ⚠
p.Asn375Asp Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Asn545Lys Single submitter Inborn genetic diseases
p.Asn78Asp Single submitter ⚠
p.Asn91Ile Single submitter Inborn genetic diseases ⚠
p.Asp139Asn Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Asp163Glu Single submitter cholestasis, progressive familial intrahepatic, 12
p.Asp465Glu Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Asp502Asn Single submitter Inborn genetic diseases ⚠
p.Cys138Tyr Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Cys401Arg Single submitter ⚠
p.Cys522Tyr Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Cys546Tyr Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Gln170Lys Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Gln178Arg Single submitter Inborn genetic diseases ⚠
p.Gln322= Single submitter
p.Gln32His Single submitter arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Gln358Leu Single submitter Inborn genetic diseases ⚠
p.Gln421Pro Single submitter Inborn genetic diseases ⚠
p.Gln535Arg Single submitter Inborn genetic diseases ⚠
p.Gln80Arg Single submitter
p.Glu130Gly Single submitter
p.Glu156Asp Single submitter Inborn genetic diseases ⚠
p.Glu211Lys Single submitter Inborn genetic diseases ⚠
p.Glu213Val Single submitter ⚠
p.Glu267Val Single submitter ⚠
p.Glu282Lys Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Glu378Gly Single submitter ⚠
p.Glu456Asp Single submitter ⚠
p.Glu456Gly Single submitter Inborn genetic diseases ⚠
p.Glu500Lys Single submitter ⚠
p.Glu530Gln Single submitter ⚠
p.Glu557Gln Single submitter Inborn genetic diseases ⚠
p.Glu590fs Single submitter cholestasis, progressive familial intrahepatic, 12
p.Gly106Asp Single submitter Inborn genetic diseases
p.Gly197Asp Single submitter ⚠
p.Gly220Arg Single submitter ⚠
p.Gly260Glu Single submitter Inborn genetic diseases ⚠
p.Gly469Arg Single submitter ⚠
p.Gly499Ser Single submitter Inborn genetic diseases ⚠
p.Gly514Arg Single submitter ⚠
p.Gly574Ser Single submitter Inborn genetic diseases ⚠
p.His227Pro Single submitter ⚠
p.His338= Single submitter
p.His386Pro Single submitter ⚠
p.Ile196Thr Single submitter Inborn genetic diseases ⚠
p.Ile345Phe Single submitter ⚠
p.Ile345Thr Single submitter Inborn genetic diseases ⚠
p.Ile364Met Single submitter Inborn genetic diseases ⚠
p.Ile383Val Single submitter Inborn genetic diseases ⚠
p.Ile387Val Single submitter Inborn genetic diseases ⚠
p.Ile394Val Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Ile568Asn Single submitter ⚠
p.Leu145Ser Single submitter thrombocytopenia ⚠
p.Leu182Val Single submitter ⚠
p.Leu183del Single submitter cholestasis, progressive familial intrahepatic, 12
p.Leu186Pro Single submitter ⚠
p.Leu21Val Single submitter arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Leu432Ile Single submitter ⚠
p.Leu520Pro Single submitter ⚠
p.Leu567Pro Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Leu573Phe Single submitter arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Lys219Glu Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Lys324fs Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
p.Lys36Asn Single submitter ⚠
p.Lys37Gln Single submitter Inborn genetic diseases ⚠
p.Lys466Gln Single submitter ⚠
p.Lys470Arg Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Lys59Asn Single submitter ⚠
p.Lys68Gln Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Met17Lys Single submitter ⚠
p.Met1Leu Single submitter
p.Met554Thr Single submitter Inborn genetic diseases ⚠
p.Met554Val Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Met609Ile Single submitter Inborn genetic diseases ⚠
p.Met92Leu Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Met92Thr Single submitter cholestasis, progressive familial intrahepatic, 12
p.Phe115Cys Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Phe115Leu Single submitter Inborn genetic diseases ⚠
p.Phe15Leu Single submitter Inborn genetic diseases ⚠
p.Phe15Tyr Single submitter Inborn genetic diseases ⚠
p.Phe160Leu Single submitter Inborn genetic diseases ⚠
p.Phe160Tyr Single submitter Inborn genetic diseases
p.Phe161Leu Single submitter ⚠
p.Phe326= Single submitter
p.Pro13= Single submitter
p.Pro147Leu Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Pro191Arg Single submitter arthrogryposis, renal dysfunction, and cholestasis 1 ⚠
p.Pro191Ser Single submitter ⚠
p.Pro266Leu Single submitter Inborn genetic diseases ⚠
p.Pro448Ser Single submitter Inborn genetic diseases ⚠
p.Pro506Ala Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Pro7Ser Single submitter Inborn genetic diseases ⚠
p.Ser116Gly Single submitter
p.Ser137Asn Single submitter Inborn genetic diseases ⚠
p.Ser144Ala Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Ser271Pro Single submitter Inborn genetic diseases
p.Ser328Phe Single submitter ⚠
p.Ser342Cys Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Ser417Thr Single submitter Inborn genetic diseases ⚠
p.Ser417Tyr Single submitter cholestasis, progressive familial intrahepatic, 12
p.Ser488Arg Single submitter Inborn genetic diseases ⚠
p.Ser562Ile Single submitter ⚠
p.Ser564Pro Single submitter ⚠
p.Ser605Asn Single submitter Inborn genetic diseases ⚠
p.Ser77Pro Single submitter ⚠
p.Thr254Ser Single submitter ⚠
p.Thr269Ile Single submitter ⚠
p.Thr356Ile Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Thr420Ile Single submitter ⚠
p.Thr433Asn Single submitter Inborn genetic diseases ⚠
p.Thr453Ala Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Thr552Pro Single submitter ⚠
p.Thr555Ser Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Thr577Ile Single submitter ⚠
p.Thr603Ala Single submitter ⚠
p.Thr603Lys Single submitter ⚠
p.Trp172Arg Single submitter ⚠
p.Tyr194Ser Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Tyr28His Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Tyr382Asn Single submitter ⚠
p.Tyr382His Single submitter ⚠
p.Val327Met Single submitter Inborn genetic diseases ⚠
p.Val528= Single submitter
p.Val55Ile Single submitter cholestasis, progressive familial intrahepatic, 12 ⚠
p.Val570Met Single submitter ⚠
p.Val69= Single submitter arthrogryposis, renal dysfunction, and cholestasis 1
c.1170+2T>C No assertion criteria
p.Ala474Pro No assertion criteria microcephaly ⚠
p.Asp319Gly No assertion criteria VPS33B-related disorder ⚠
p.His344Asn No assertion criteria ⚠