DCDC2 — 377 ClinVar variants

All ClinVar germline DCDC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 169 flagged for review →

14 Pathogenic · 3 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 25 Conflicting · 46 Benign · 6 Benign/Likely benign · 103 Likely benign · 165 Uncertain significance

Full DCDC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 169

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

DCDC2 p.Met1Arg Likely pathogenic Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Gln424Pro Pathogenic No assertion criteria
Nonsyndromic Deafness
DCDC2 p.Lys17Asn Pathogenic No assertion criteria
isolated neonatal sclerosing cholangitis

Predictors agree, ClinVar conflicts 9

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

DCDC2 p.Ala356Thr Conflicting Single submitter
isolated neonatal sclerosing cholangitis
DCDC2 p.Arg186Ser Conflicting Single submitter
nephronophthisis 19
DCDC2 p.Arg400His Conflicting Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Gly31= Conflicting Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Lys290Arg Conflicting Single submitter
Inborn genetic diseases
DCDC2 p.Pro273Ser Conflicting Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Ser181Arg Conflicting Single submitter
Inborn genetic diseases
DCDC2 p.Ser239Ala Conflicting Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Ser367Thr Conflicting Single submitter
autosomal recessive nonsyndromic hearing loss 66

Predictors lean, ClinVar uncertain 89

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

DCDC2 p.Ala356Pro Uncertain significance Multiple submitters
Inborn genetic diseases
DCDC2 p.Ala384Gly Uncertain significance Multiple submitters
isolated neonatal sclerosing cholangitis
DCDC2 p.Ala93Asp Uncertain significance Multiple submitters
isolated neonatal sclerosing cholangitis
DCDC2 p.Arg130His Uncertain significance Multiple submitters
Inborn genetic diseases
DCDC2 p.Arg155Cys Uncertain significance Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Arg379Lys Uncertain significance Multiple submitters
Inborn genetic diseases
DCDC2 p.Asn268Ser Uncertain significance Multiple submitters
Inborn genetic diseases
DCDC2 p.Asn357Lys Uncertain significance Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Asn469Thr Uncertain significance Multiple submitters
isolated neonatal sclerosing cholangitis
DCDC2 p.Asp332Gly Uncertain significance Multiple submitters
isolated neonatal sclerosing cholangitis
DCDC2 p.Asp352Glu Uncertain significance Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Glu326Asp Uncertain significance Multiple submitters
Inborn genetic diseases
DCDC2 p.Glu414Ala Uncertain significance Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Gly310Ala Uncertain significance Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Gly406Glu Uncertain significance Multiple submitters
Inborn genetic diseases
DCDC2 p.Gly407Arg Uncertain significance Multiple submitters
isolated neonatal sclerosing cholangitis
DCDC2 p.Gly407Val Uncertain significance Multiple submitters
Inborn genetic diseases
DCDC2 p.Gly413Ser Uncertain significance Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Ile304Val Uncertain significance Multiple submitters
Inborn genetic diseases
DCDC2 p.Leu156His Uncertain significance Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Pro119Ser Uncertain significance Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Pro385Leu Uncertain significance Multiple submitters
isolated neonatal sclerosing cholangitis
DCDC2 p.Ser367Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DCDC2 p.Thr229Ala Uncertain significance Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Thr70Asn Uncertain significance Multiple submitters
Inborn genetic diseases
DCDC2 p.Val337Leu Uncertain significance Multiple submitters
isolated neonatal sclerosing cholangitis
DCDC2 p.Val455Ala Uncertain significance Multiple submitters
isolated neonatal sclerosing cholangitis
DCDC2 p.Val51Leu Uncertain significance Multiple submitters
isolated neonatal sclerosing cholangitis
DCDC2 p.Ala30Thr Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Ala30Val Uncertain significance Single submitter
DCDC2 p.Ala324Ser Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Ala436Thr Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Ala476Val Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Arg130Cys Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Arg276Gly Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Arg379Ser Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Arg400Ser Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Asn268Asp Uncertain significance Single submitter
isolated neonatal sclerosing cholangitis
DCDC2 p.Asn370Asp Uncertain significance Single submitter
DCDC2 p.Asn405Asp Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Asn469His Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Asp256Asn Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Asp332His Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Asp359Val Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Asp409Asn Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Asp409Glu Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Asp471Val Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Gln328Arg Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Gln341Glu Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Gln362Arg Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Gln448Lys Uncertain significance Single submitter
DCDC2-related disorder
DCDC2 p.Glu331Val Uncertain significance Single submitter
isolated neonatal sclerosing cholangitis
DCDC2 p.Glu345Val Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Gly252Ala Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Gly368Arg Uncertain significance Single submitter
DCDC2 p.Gly437Asp Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Gly54Arg Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Gly83Arg Uncertain significance Single submitter
DCDC2 p.His72Arg Uncertain significance Single submitter
DCDC2 p.Ile244Val Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Ile80Thr Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Lys216Asn Uncertain significance Single submitter
DCDC2 p.Lys296Glu Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Met230Ile Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Phe59Leu Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Pro119Leu Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Pro338Leu Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Pro385Arg Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Pro450Thr Uncertain significance Single submitter
DCDC2 p.Pro460Ser Uncertain significance Single submitter
DCDC2 p.Ser270Thr Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Ser2Asn Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Ser300Leu Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Ser395Gly Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Ser4Arg Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Ser4Asn Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Ser8Phe Uncertain significance Single submitter
isolated neonatal sclerosing cholangitis
DCDC2 p.Ser9Thr Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Thr229Arg Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Thr303Ser Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Thr408Ile Uncertain significance Single submitter
isolated neonatal sclerosing cholangitis
DCDC2 p.Trp166Cys Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Val208Ala Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Val208Met Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Val263Ala Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Val347Leu Uncertain significance Single submitter
DCDC2 p.Val34Ile Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Val55Leu Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Gly368Glu Uncertain significance No assertion criteria
DCDC2-related disorder

Predictors split 68

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

DCDC2 p.Ala153Gly Uncertain significance Multiple submitters
Inborn genetic diseases
DCDC2 p.Arg257Cys Uncertain significance Multiple submitters
nephronophthisis 19
DCDC2 p.Arg257His Uncertain significance Multiple submitters
isolated neonatal sclerosing cholangitis
DCDC2 p.Arg322Pro Uncertain significance Multiple submitters
isolated neonatal sclerosing cholangitis
DCDC2 p.Arg342Trp Uncertain significance Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Asp340Asn Uncertain significance Multiple submitters
isolated neonatal sclerosing cholangitis
DCDC2 p.Asp383His Likely benign Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Glu389Lys Uncertain significance Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Gly323Arg Uncertain significance Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Leu149Phe Uncertain significance Multiple submitters
isolated neonatal sclerosing cholangitis
DCDC2 p.Lys217Ile Uncertain significance Multiple submitters
nephronophthisis 19
DCDC2 p.Pro109Leu Uncertain significance Multiple submitters
Inborn genetic diseases
DCDC2 p.Pro134Leu Uncertain significance Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Pro152Ala Benign Multiple submitters
isolated neonatal sclerosing cholangitis
DCDC2 p.Pro343Leu Uncertain significance Multiple submitters
nephronophthisis 19
DCDC2 p.Ser18Arg Uncertain significance Multiple submitters
nephronophthisis 19
DCDC2 p.Thr262Ile Uncertain significance Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Val15= Likely benign Multiple submitters
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Ala93Gly Uncertain significance Single submitter
isolated neonatal sclerosing cholangitis
DCDC2 p.Arg232Ser Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Arg23Leu Conflicting Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Arg322Trp Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Arg33= Likely benign Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Arg403Cys Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Asn126Lys Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Asn24Thr Uncertain significance Single submitter
isolated neonatal sclerosing cholangitis
DCDC2 p.Asn370Ser Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Asp167Tyr Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Asp393Tyr Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Asp428Val Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Asp78His Uncertain significance Single submitter
DCDC2 p.Glu202Asp Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Glu317Gln Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Glu364Gly Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Glu430Lys Uncertain significance Single submitter
DCDC2 p.Glu464Lys Uncertain significance Single submitter
DCDC2 p.Gly246Val Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Gly252Glu Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Gly3Val Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Ile346Thr Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Lys227Met Uncertain significance Single submitter
isolated neonatal sclerosing cholangitis
DCDC2 p.Lys260Asn Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Lys279Ile Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Lys287Ile Uncertain significance Single submitter
DCDC2 p.Lys49Gln Uncertain significance Single submitter
DCDC2 p.Pro219Leu Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Pro219Ser Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Pro233Leu Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Pro243Arg Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Pro58Thr Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Ser154Cys Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Ser221Asn Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Ser253Cys Uncertain significance Single submitter
DCDC2 p.Ser266Arg Uncertain significance Single submitter
Inborn genetic diseases
DCDC2 p.Ser4= Likely benign Single submitter
isolated neonatal sclerosing cholangitis
DCDC2 p.Ser42Phe Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Ser438Ile Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Thr229Met Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Thr289Met Uncertain significance Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Tyr29His Uncertain significance Single submitter
isolated neonatal sclerosing cholangitis
DCDC2 p.Val117Ile Conflicting Single submitter
Inborn genetic diseases
DCDC2 p.Val15Ile Uncertain significance Single submitter
DCDC2 p.Val16Leu Uncertain significance Single submitter
DCDC2 p.Val19= Conflicting Single submitter
autosomal recessive nonsyndromic hearing loss 66
DCDC2 p.Val283Met Uncertain significance Single submitter
nephronophthisis 19
DCDC2 p.Val347Glu Uncertain significance Single submitter
DCDC2 p.Val475Met Conflicting Single submitter
isolated neonatal sclerosing cholangitis
DCDC2 p.Lys249Gln Uncertain significance No assertion criteria
DCDC2-related disorder

All DCDC2 variants

Pathogenic 14

c.294-2A>G Multiple submitters nephronophthisis 19
c.349-2A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 66
c.705-2A>G Multiple submitters DCDC2-related disorder
p.Ile177fs Multiple submitters autosomal recessive nonsyndromic hearing loss 66
p.Leu297Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 66
p.Ser42fs Multiple submitters autosomal recessive nonsyndromic hearing loss 66
c.557+1G>T Single submitter DCDC2-related disorder
p.Asn98fs Single submitter
p.Glu116Ter Single submitter chylomicron retention disease
p.Leu179fs Single submitter isolated neonatal sclerosing cholangitis
c.426_557del No assertion criteria isolated neonatal sclerosing cholangitis
p.Gln424Pro No assertion criteria Nonsyndromic Deafness ⚠
p.Lys17Asn No assertion criteria isolated neonatal sclerosing cholangitis ⚠
p.Lys217Ter No assertion criteria isolated neonatal sclerosing cholangitis

Pathogenic/Likely pathogenic 3

p.Ala324fs Multiple submitters autosomal recessive nonsyndromic hearing loss 66
p.Gly315fs Multiple submitters isolated neonatal sclerosing cholangitis
p.Ser128Ter Multiple submitters nephronophthisis 19

Likely pathogenic 15

c.1023+2T>C Single submitter isolated neonatal sclerosing cholangitis
c.426-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 66
c.923-283_1023+141del Single submitter isolated neonatal sclerosing cholangitis
p.Asp26His Single submitter isolated neonatal sclerosing cholangitis
p.Gln301Ter Single submitter nephronophthisis 19
p.Glu202Ter Single submitter nephronophthisis 19
p.Glu349Ter Single submitter isolated neonatal sclerosing cholangitis
p.Glu386fs Single submitter DCDC2-related disorder
p.Leu97fs Single submitter nephronophthisis 19
p.Lys277Ter Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Met1Arg Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Pro14fs Single submitter nephronophthisis 19
p.Val184fs Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Arg75fs No assertion criteria nephronophthisis 19
p.Gln417Ter No assertion criteria DCDC2-related disorder

Conflicting classifications of pathogenicity 25

c.1327-11T>C Single submitter autosomal recessive nonsyndromic hearing loss 66
c.1327-15T>A Single submitter nephronophthisis 19
c.349-9C>G Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Ala356Thr Single submitter isolated neonatal sclerosing cholangitis ⚠
p.Arg186Ser Single submitter nephronophthisis 19 ⚠
p.Arg232= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Arg23Leu Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Arg318= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Arg400His Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Gly31= Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Ile74= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Lys290Arg Single submitter Inborn genetic diseases ⚠
p.Lys296= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Pro134= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Pro273Ser Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Pro453= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Ser181= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Ser181Arg Single submitter Inborn genetic diseases ⚠
p.Ser239Ala Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Ser250= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Ser367Thr Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Thr333= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Val117Ile Single submitter Inborn genetic diseases ⚠
p.Val19= Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Val475Met Single submitter isolated neonatal sclerosing cholangitis ⚠

Benign 46

c.1024-27T>C Multiple submitters
c.294-21GTTT[2] Multiple submitters isolated neonatal sclerosing cholangitis
c.425+14C>A Multiple submitters autosomal recessive nonsyndromic hearing loss 66
c.426-13C>T Multiple submitters isolated neonatal sclerosing cholangitis
c.*3C>G Multiple submitters nephronophthisis 19
p.Ala61= Multiple submitters isolated neonatal sclerosing cholangitis
p.Lys456Asn Multiple submitters autosomal recessive nonsyndromic hearing loss 66
p.Pro152Ala Multiple submitters isolated neonatal sclerosing cholangitis ⚠
p.Val339= Multiple submitters autosomal recessive nonsyndromic hearing loss 66
c.1023+154dup Single submitter
c.1023+245T>C Single submitter
c.1024-138G>A Single submitter
c.1024-139C>T Single submitter
c.1024-201G>C Single submitter
c.1326+252C>T Single submitter
c.1326+59C>T Single submitter
c.1327-257T>C Single submitter
c.1327-264_1327-261del Single submitter
c.1327-62A>G Single submitter
c.293+27C>A Single submitter
c.294-156del Single submitter
c.294-194A>G Single submitter
c.348+190A>G Single submitter
c.348+55T>C Single submitter
c.349-253_349-251del Single submitter
c.349-261_349-260insG Single submitter
c.349-264_349-262dup Single submitter
c.349-264_349-263dup Single submitter
c.349-264dup Single submitter
c.426-35T>C Single submitter
c.557+212A>T Single submitter
c.704+226dup Single submitter
c.705-168T>C Single submitter
c.759+160A>G Single submitter
c.760-135T>C Single submitter
c.922+256del Single submitter
c.922+277T>C Single submitter
c.922+77C>G Single submitter
c.923-134G>T Single submitter
c.-224C>T Single submitter
c.-285C>T Single submitter
c.-97-408C>G Single submitter
c.*124A>T Single submitter
c.*155T>G Single submitter
c.*278_*279insTTTGTA Single submitter
c.*284T>C Single submitter

Benign/Likely benign 6

c.1023+28G>C Multiple submitters
c.349-16dup Multiple submitters isolated neonatal sclerosing cholangitis
p.Arg160= Multiple submitters isolated neonatal sclerosing cholangitis
p.Arg403His Multiple submitters isolated neonatal sclerosing cholangitis
p.Asp348= Multiple submitters autosomal recessive nonsyndromic hearing loss 66
p.Ser285= Multiple submitters autosomal recessive nonsyndromic hearing loss 66

Likely benign 103

c.293+79C>T Multiple submitters
c.349-15C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 66
c.425+33A>G Multiple submitters
c.558-50C>A Multiple submitters
c.558-6C>T Multiple submitters autosomal recessive nonsyndromic hearing loss 66
c.923-12T>G Multiple submitters autosomal recessive nonsyndromic hearing loss 66
c.923-145C>T Multiple submitters
c.923-18G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 66
c.923-319T>G Multiple submitters
c.-24C>T Multiple submitters
c.-97-502C>A Multiple submitters
p.Ala474= Multiple submitters isolated neonatal sclerosing cholangitis
p.Asp383His Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Thr408= Multiple submitters autosomal recessive nonsyndromic hearing loss 66
p.Val15= Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
c.1023+11T>C Single submitter autosomal recessive nonsyndromic hearing loss 66
c.1023+14C>A Single submitter autosomal recessive nonsyndromic hearing loss 66
c.1024-16C>T Single submitter isolated neonatal sclerosing cholangitis
c.1024-5A>G Single submitter autosomal recessive nonsyndromic hearing loss 66
c.1024-9A>G Single submitter autosomal recessive nonsyndromic hearing loss 66
c.1326+19C>T Single submitter isolated neonatal sclerosing cholangitis
c.1326+9A>G Single submitter autosomal recessive nonsyndromic hearing loss 66
c.1327-318G>C Single submitter
c.1327-9T>C Single submitter isolated neonatal sclerosing cholangitis
c.293+20C>T Single submitter isolated neonatal sclerosing cholangitis
c.294-11T>A Single submitter autosomal recessive nonsyndromic hearing loss 66
c.348+282G>T Single submitter
c.349-10G>T Single submitter
c.349-233T>C Single submitter
c.349-251_349-250insTTC Single submitter
c.349-251del Single submitter
c.349-8T>G Single submitter isolated neonatal sclerosing cholangitis
c.425+10A>T Single submitter autosomal recessive nonsyndromic hearing loss 66
c.425+11A>T Single submitter autosomal recessive nonsyndromic hearing loss 66
c.425+16T>G Single submitter isolated neonatal sclerosing cholangitis
c.557+14A>G Single submitter isolated neonatal sclerosing cholangitis
c.557+250C>A Single submitter
c.558-4A>G Single submitter autosomal recessive nonsyndromic hearing loss 66
c.558-5G>T Single submitter autosomal recessive nonsyndromic hearing loss 66
c.705-10G>T Single submitter isolated neonatal sclerosing cholangitis
c.705-11del Single submitter isolated neonatal sclerosing cholangitis
c.705-127A>G Single submitter
c.705-4A>C Single submitter autosomal recessive nonsyndromic hearing loss 66
c.759+13T>G Single submitter isolated neonatal sclerosing cholangitis
c.759+16T>G Single submitter autosomal recessive nonsyndromic hearing loss 66
c.759+17T>G Single submitter autosomal recessive nonsyndromic hearing loss 66
c.759+9C>G Single submitter isolated neonatal sclerosing cholangitis
c.760-12T>C Single submitter autosomal recessive nonsyndromic hearing loss 66
c.760-7C>T Single submitter autosomal recessive nonsyndromic hearing loss 66
c.922+17T>C Single submitter autosomal recessive nonsyndromic hearing loss 66
c.922+19T>C Single submitter autosomal recessive nonsyndromic hearing loss 66
c.923-10G>T Single submitter autosomal recessive nonsyndromic hearing loss 66
c.923-12_923-9del Single submitter autosomal recessive nonsyndromic hearing loss 66
c.923-139A>C Single submitter
c.923-20C>T Single submitter isolated neonatal sclerosing cholangitis
c.923-5A>C Single submitter autosomal recessive nonsyndromic hearing loss 66
c.923-8C>T Single submitter autosomal recessive nonsyndromic hearing loss 66
c.-126T>C Single submitter
c.-192T>C Single submitter
c.-89C>A Single submitter
c.*3C>T Single submitter
p.Ala360= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Arg33= Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Arg342= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Arg379= Single submitter
p.Asn306= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Asp282= Single submitter isolated neonatal sclerosing cholangitis
p.Asp308= Single submitter
p.Asp444= Single submitter isolated neonatal sclerosing cholangitis
p.Gln424= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Gln448= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Glu411= Single submitter isolated neonatal sclerosing cholangitis
p.Gly378= Single submitter isolated neonatal sclerosing cholangitis
p.Gly407= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.His122= Single submitter isolated neonatal sclerosing cholangitis
p.His185= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Ile244= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Leu157= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Leu425= Single submitter isolated neonatal sclerosing cholangitis
p.Leu48= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Leu77= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Phe234= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Pro138= Single submitter isolated neonatal sclerosing cholangitis
p.Pro152= Single submitter isolated neonatal sclerosing cholangitis
p.Pro401= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Ser239= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Ser269= Single submitter isolated neonatal sclerosing cholangitis
p.Ser4= Single submitter isolated neonatal sclerosing cholangitis ⚠
p.Thr229= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Val169= Single submitter isolated neonatal sclerosing cholangitis
p.Val388= Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Val41= Single submitter isolated neonatal sclerosing cholangitis
p.Val426= Single submitter
c.1326+6T>G No assertion criteria DCDC2-related disorder
c.704+6T>C No assertion criteria DCDC2-related disorder
c.*10A>G No assertion criteria DCDC2-related disorder
p.Arg69Gln No assertion criteria DCDC2-related disorder
p.Gly54= No assertion criteria DCDC2-related disorder
p.Leu170= No assertion criteria DCDC2-related disorder
p.Phe206= No assertion criteria DCDC2-related disorder
p.Pro14= No assertion criteria DCDC2-related disorder
p.Tyr86= No assertion criteria DCDC2-related disorder
p.Val404= No assertion criteria DCDC2-related disorder

Uncertain significance 165

p.Ala153Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala356Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala384Gly Multiple submitters isolated neonatal sclerosing cholangitis ⚠
p.Ala93Asp Multiple submitters isolated neonatal sclerosing cholangitis ⚠
p.Arg130His Multiple submitters Inborn genetic diseases ⚠
p.Arg155Cys Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Arg257Cys Multiple submitters nephronophthisis 19 ⚠
p.Arg257His Multiple submitters isolated neonatal sclerosing cholangitis ⚠
p.Arg322Pro Multiple submitters isolated neonatal sclerosing cholangitis ⚠
p.Arg342Trp Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Arg379Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn268Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn357Lys Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Asn469Thr Multiple submitters isolated neonatal sclerosing cholangitis ⚠
p.Asp332Gly Multiple submitters isolated neonatal sclerosing cholangitis ⚠
p.Asp340Asn Multiple submitters isolated neonatal sclerosing cholangitis ⚠
p.Asp352Glu Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Glu281del Multiple submitters isolated neonatal sclerosing cholangitis
p.Glu326Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu389Lys Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Glu414Ala Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Gly310Ala Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Gly323Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Gly406Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly407Arg Multiple submitters isolated neonatal sclerosing cholangitis ⚠
p.Gly407Val Multiple submitters Inborn genetic diseases ⚠
p.Gly413Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Ile304Val Multiple submitters Inborn genetic diseases ⚠
p.Leu149Phe Multiple submitters isolated neonatal sclerosing cholangitis ⚠
p.Leu156His Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Lys217Ile Multiple submitters nephronophthisis 19 ⚠
p.Pro109Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro119Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Pro134Leu Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Pro343Leu Multiple submitters nephronophthisis 19 ⚠
p.Pro385Leu Multiple submitters isolated neonatal sclerosing cholangitis ⚠
p.Ser18Arg Multiple submitters nephronophthisis 19 ⚠
p.Ser367Leu Multiple submitters Inborn genetic diseases ⚠
p.Thr229Ala Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Thr262Ile Multiple submitters autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Thr70Asn Multiple submitters Inborn genetic diseases ⚠
p.Val337Leu Multiple submitters isolated neonatal sclerosing cholangitis ⚠
p.Val455Ala Multiple submitters isolated neonatal sclerosing cholangitis ⚠
p.Val51Leu Multiple submitters isolated neonatal sclerosing cholangitis ⚠
c.1023+9C>T Single submitter
c.1326+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 66
c.1326+6T>C Single submitter nephronophthisis 19
c.349-1G>T Single submitter nephronophthisis 19
c.760-16dup Single submitter nephronophthisis 19
c.923-8C>G Single submitter
p.Ala30Thr Single submitter nephronophthisis 19 ⚠
p.Ala30Val Single submitter ⚠
p.Ala324Ser Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Ala436Thr Single submitter Inborn genetic diseases ⚠
p.Ala476Val Single submitter nephronophthisis 19 ⚠
p.Ala93Gly Single submitter isolated neonatal sclerosing cholangitis ⚠
p.Arg130Cys Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Arg232Ser Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Arg276Gly Single submitter Inborn genetic diseases ⚠
p.Arg322Trp Single submitter Inborn genetic diseases ⚠
p.Arg379Ser Single submitter nephronophthisis 19 ⚠
p.Arg400Ser Single submitter nephronophthisis 19 ⚠
p.Arg403Cys Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Arg452= Single submitter
p.Asn126Lys Single submitter Inborn genetic diseases ⚠
p.Asn24Thr Single submitter isolated neonatal sclerosing cholangitis ⚠
p.Asn268Asp Single submitter isolated neonatal sclerosing cholangitis ⚠
p.Asn370Asp Single submitter ⚠
p.Asn370Ser Single submitter nephronophthisis 19 ⚠
p.Asn405Asp Single submitter nephronophthisis 19 ⚠
p.Asn469His Single submitter Inborn genetic diseases ⚠
p.Asp167Tyr Single submitter Inborn genetic diseases ⚠
p.Asp256Asn Single submitter nephronophthisis 19 ⚠
p.Asp332His Single submitter Inborn genetic diseases ⚠
p.Asp359Val Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Asp393Tyr Single submitter Inborn genetic diseases ⚠
p.Asp409Asn Single submitter Inborn genetic diseases ⚠
p.Asp409Glu Single submitter nephronophthisis 19 ⚠
p.Asp428Val Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Asp471Val Single submitter Inborn genetic diseases ⚠
p.Asp78His Single submitter ⚠
p.Gln328Arg Single submitter Inborn genetic diseases ⚠
p.Gln341Glu Single submitter Inborn genetic diseases ⚠
p.Gln362Arg Single submitter Inborn genetic diseases ⚠
p.Gln440Ter Single submitter isolated neonatal sclerosing cholangitis
p.Gln448Lys Single submitter DCDC2-related disorder ⚠
p.Glu202Asp Single submitter nephronophthisis 19 ⚠
p.Glu317Gln Single submitter nephronophthisis 19 ⚠
p.Glu331Val Single submitter isolated neonatal sclerosing cholangitis ⚠
p.Glu345Val Single submitter Inborn genetic diseases ⚠
p.Glu364Gly Single submitter Inborn genetic diseases ⚠
p.Glu430Lys Single submitter ⚠
p.Glu464Lys Single submitter ⚠
p.Gly246Val Single submitter Inborn genetic diseases ⚠
p.Gly252Ala Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Gly252Glu Single submitter Inborn genetic diseases ⚠
p.Gly368Arg Single submitter ⚠
p.Gly3Val Single submitter nephronophthisis 19 ⚠
p.Gly437Asp Single submitter Inborn genetic diseases ⚠
p.Gly54Arg Single submitter nephronophthisis 19 ⚠
p.Gly83Arg Single submitter ⚠
p.His72Arg Single submitter ⚠
p.Ile244Val Single submitter nephronophthisis 19 ⚠
p.Ile346Thr Single submitter nephronophthisis 19 ⚠
p.Ile80Thr Single submitter Inborn genetic diseases ⚠
p.Lys216Asn Single submitter ⚠
p.Lys227Met Single submitter isolated neonatal sclerosing cholangitis ⚠
p.Lys260Asn Single submitter nephronophthisis 19 ⚠
p.Lys279Ile Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Lys287Ile Single submitter ⚠
p.Lys296Glu Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Lys39= Single submitter
p.Lys40del Single submitter nephronophthisis 19
p.Lys49Gln Single submitter ⚠
p.Met230Ile Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Phe59Leu Single submitter Inborn genetic diseases ⚠
p.Pro119Leu Single submitter Inborn genetic diseases ⚠
p.Pro219Leu Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Pro219Ser Single submitter nephronophthisis 19 ⚠
p.Pro233Leu Single submitter nephronophthisis 19 ⚠
p.Pro243Arg Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Pro338Leu Single submitter nephronophthisis 19 ⚠
p.Pro385Arg Single submitter nephronophthisis 19 ⚠
p.Pro450Thr Single submitter ⚠
p.Pro460Ser Single submitter ⚠
p.Pro58Thr Single submitter Inborn genetic diseases ⚠
p.Ser154Cys Single submitter Inborn genetic diseases ⚠
p.Ser221Asn Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Ser221Gly Single submitter autosomal recessive nonsyndromic hearing loss 66
p.Ser253Cys Single submitter ⚠
p.Ser266Arg Single submitter Inborn genetic diseases ⚠
p.Ser270Thr Single submitter Inborn genetic diseases ⚠
p.Ser2Asn Single submitter Inborn genetic diseases ⚠
p.Ser300Leu Single submitter nephronophthisis 19 ⚠
p.Ser307= Single submitter nephronophthisis 19
p.Ser395Gly Single submitter Inborn genetic diseases ⚠
p.Ser42Phe Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Ser438= Single submitter
p.Ser438Ile Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Ser4Arg Single submitter Inborn genetic diseases ⚠
p.Ser4Asn Single submitter nephronophthisis 19 ⚠
p.Ser8Phe Single submitter isolated neonatal sclerosing cholangitis ⚠
p.Ser9Thr Single submitter nephronophthisis 19 ⚠
p.Thr229Arg Single submitter nephronophthisis 19 ⚠
p.Thr229Met Single submitter nephronophthisis 19 ⚠
p.Thr289Met Single submitter autosomal recessive nonsyndromic hearing loss 66 ⚠
p.Thr303Ser Single submitter nephronophthisis 19 ⚠
p.Thr408Ile Single submitter isolated neonatal sclerosing cholangitis ⚠
p.Trp166Cys Single submitter Inborn genetic diseases ⚠
p.Tyr29His Single submitter isolated neonatal sclerosing cholangitis ⚠
p.Tyr472fs Single submitter
p.Val15Ile Single submitter ⚠
p.Val16Leu Single submitter ⚠
p.Val173= Single submitter nephronophthisis 19
p.Val208Ala Single submitter nephronophthisis 19 ⚠
p.Val208Met Single submitter nephronophthisis 19 ⚠
p.Val263Ala Single submitter Inborn genetic diseases ⚠
p.Val283Met Single submitter nephronophthisis 19 ⚠
p.Val347Glu Single submitter ⚠
p.Val347Leu Single submitter ⚠
p.Val34Ile Single submitter nephronophthisis 19 ⚠
p.Val55Leu Single submitter Inborn genetic diseases ⚠
p.Gly368Glu No assertion criteria DCDC2-related disorder ⚠
p.His394fs No assertion criteria
p.Lys249Gln No assertion criteria DCDC2-related disorder ⚠