GLIS3 — 773 ClinVar variants

All ClinVar germline GLIS3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 288 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 48 Conflicting · 81 Benign · 15 Benign/Likely benign · 150 Likely benign · 461 Uncertain significance

Full GLIS3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 288

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 20

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

GLIS3 p.Ala477Val Conflicting Single submitter
GLIS3 p.Arg699Cys Conflicting Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Arg699His Conflicting Single submitter
monogenic diabetes
GLIS3 p.Asn239Ser Conflicting Single submitter
Inborn genetic diseases
GLIS3 p.Cys358Phe Conflicting Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Gln397His Conflicting Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Gly904Arg Conflicting Single submitter
aniridia
GLIS3 p.His400Arg Conflicting Single submitter
monogenic diabetes
GLIS3 p.His400Gln Conflicting Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.His775Tyr Conflicting Single submitter
Inborn genetic diseases
GLIS3 p.Leu373Val Conflicting Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Lys832Glu Conflicting Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Pro166Ala Conflicting Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Pro282Ala Conflicting Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Pro362Gln Conflicting Single submitter
monogenic diabetes
GLIS3 p.Pro437Leu Conflicting Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ser236Ala Conflicting Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ser687Phe Conflicting Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Val265Phe Conflicting Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Val697Met Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 229

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 229

GLIS3 p.Ala233Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Ala446Val Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ala691Val Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ala693Thr Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ala784Pro Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Arg637Cys Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Arg663Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Arg720Gln Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Arg780Gln Uncertain significance Multiple submitters
monogenic diabetes
GLIS3 p.Arg902Cys Uncertain significance Multiple submitters
monogenic diabetes
GLIS3 p.Arg902His Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Arg918His Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Asn176Ser Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Asn317Ser Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Asn409Lys Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Asp310Asn Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Gln404Lys Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Gln753Arg Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Glu393Lys Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Glu472Asp Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Glu667Ala Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Gly385Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Gly385Val Uncertain significance Multiple submitters
monogenic diabetes
GLIS3 p.Gly491Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Gly603Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Gly763Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Gly825Ala Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Gly898Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.His467Pro Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.His824Pro Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Ile844Thr Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Leu237Phe Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Leu757Pro Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Leu923Phe Uncertain significance Multiple submitters
GLIS3 p.Met186Val Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Phe436Val Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Pro255His Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Pro338Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Pro382Gln Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Pro405Leu Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Pro444Ser Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Pro447Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Pro703Ser Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Pro750Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Pro835Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Pro839Ala Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ser213Asn Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ser253Ile Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ser289Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Ser665Asn Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ser879Leu Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ser879Trp Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ser894Leu Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Thr570Met Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Thr812Ala Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Tyr808Cys Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Val158Phe Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Val848Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Val916Met Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ala296Thr Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ala336Ser Uncertain significance Single submitter
GLIS3 p.Ala375Asp Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ala375Val Uncertain significance Single submitter
GLIS3 p.Ala380Gly Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Ala425Thr Uncertain significance Single submitter
GLIS3 p.Ala425Val Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Ala509Val Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ala539Val Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Ala691Asp Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Ala768Thr Uncertain significance Single submitter
GLIS3 p.Ala768Val Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Arg204Cys Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Arg204His Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Arg232Lys Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Arg287Gln Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Arg394Cys Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Arg394His Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Arg543Gln Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Arg637Gly Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Arg637His Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Arg780Gly Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Arg780Trp Uncertain significance Single submitter
GLIS3 p.Arg843Lys Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Arg902Leu Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Arg918Cys Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Arg918Gly Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Asn549Asp Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Asn716His Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Asn749Ile Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Asn813Asp Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Asp421Glu Uncertain significance Single submitter
GLIS3 p.Asp488Glu Uncertain significance Single submitter
monogenic diabetes
GLIS3 p.Asp494Asn Uncertain significance Single submitter
GLIS3 p.Asp506Val Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Asp671Glu Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Asp675Gly Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Asp761Asn Uncertain significance Single submitter
GLIS3 p.Asp840Asn Uncertain significance Single submitter
GLIS3 p.Asp907Glu Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Cys860Tyr Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Gln170Glu Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Gln183Arg Uncertain significance Single submitter
GLIS3 p.Gln218Glu Uncertain significance Single submitter
GLIS3 p.Gln397Arg Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Gln479His Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Gln513Arg Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Gln793His Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Gln799Lys Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Gln829Lys Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Gln912His Uncertain significance Single submitter
GLIS3 p.Gln922Leu Uncertain significance Single submitter
monogenic diabetes
GLIS3 p.Glu277Ala Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Glu391Val Uncertain significance Single submitter
GLIS3 p.Glu434Lys Uncertain significance Single submitter
GLIS3 p.Glu564Asp Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Glu575Lys Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Glu694Lys Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Glu899Asp Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Glu906Lys Uncertain significance Single submitter
GLIS3 p.Glu929Asp Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Glu929Lys Uncertain significance Single submitter
GLIS3 p.Gly241Val Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Gly371Cys Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Gly402Ser Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Gly416Asp Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Gly426Cys Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Gly495Arg Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Gly495Ser Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Gly497Arg Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Gly498Val Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Gly531Arg Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Gly531Glu Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Gly633Glu Uncertain significance Single submitter
GLIS3 p.Gly704Arg Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Gly802Arg Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Gly820Val Uncertain significance Single submitter
GLIS3 p.His392Leu Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.His463Asp Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.His463Gln Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.His476Asp Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.His476Gln Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.His500Asp Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.His500Leu Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.His736Asn Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.His748Gln Uncertain significance Single submitter
GLIS3 p.His775Gln Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.His776Gln Uncertain significance Single submitter
GLIS3 p.Ile164Asn Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ile178Phe Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ile496Val Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism

Predictors split 39

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

GLIS3 p.Gly313Arg Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Pro453Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GLIS3 p.Pro456Gln Benign Multiple submitters
diabetes mellitus
GLIS3 p.Ser856Trp Uncertain significance Multiple submitters
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ala329Val Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ala658Glu Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Ala658Gly Conflicting Single submitter
monogenic diabetes
GLIS3 p.Arg355Ser Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Arg663Pro Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Asp197Val Uncertain significance Single submitter
monogenic diabetes
GLIS3 p.Asp506Glu Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Cys676Ser Uncertain significance Single submitter
GLIS3 p.Gln605Pro Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Gly333Arg Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ile202Thr Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Ile556Met Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Lys299Asn Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Lys429Asn Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Lys649Arg Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Phe857Leu Uncertain significance Single submitter
GLIS3 p.Phe874Ile Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Pro451Ser Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Pro454Arg Uncertain significance Single submitter
GLIS3 p.Pro454Leu Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Pro602Leu Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Pro632Ala Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Pro632Leu Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Ser200Cys Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ser206Cys Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Ser323Leu Uncertain significance Single submitter
permanent neonatal diabetes mellitus
GLIS3 p.Ser326Tyr Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Ser652Cys Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Ser665Arg Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Ser914Arg Uncertain significance Single submitter
GLIS3 p.Thr325Lys Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Thr535Ala Uncertain significance Single submitter
Inborn genetic diseases
GLIS3 p.Thr635Ile Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism
GLIS3 p.Tyr887His Uncertain significance Single submitter
GLIS3 p.Val560Ile Uncertain significance Single submitter
neonatal diabetes mellitus with congenital hypothyroidism

All GLIS3 variants

Pathogenic 7

p.Gln423Ter Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Gly162Ter Single submitter
p.Ser221Ter Single submitter
p.Arg780fs No assertion criteria neonatal diabetes mellitus with congenital hypothyroidism
p.Cys536Trp No assertion criteria neonatal diabetes mellitus with congenital hypothyroidism
p.Gly311fs No assertion criteria neonatal diabetes mellitus with congenital hypothyroidism
p.His561Tyr No assertion criteria neonatal diabetes mellitus with congenital hypothyroidism

Pathogenic/Likely pathogenic 1

p.Leu191_Asn192insTer Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism

Likely pathogenic 10

c.597-1G>T Single submitter
p.Ala189fs Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Asn244fs Single submitter
p.Gln102Ter Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Gln18Ter Single submitter
p.Gln479Ter Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Gln680Ter Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Gly3fs Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Ser41Ter Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Val413fs Single submitter neonatal diabetes mellitus with congenital hypothyroidism

Conflicting classifications of pathogenicity 48

c.1873-9C>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.2473+13C>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Ala477Val Single submitter ⚠
p.Ala658Gly Single submitter monogenic diabetes ⚠
p.Arg21Gly Single submitter Inborn genetic diseases
p.Arg32Ter Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Arg580= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Arg614= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Arg699Cys Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Arg699His Single submitter monogenic diabetes ⚠
p.Arg78Gly Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Asn239Ser Single submitter Inborn genetic diseases ⚠
p.Cys358Phe Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Gln397His Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Gln484= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Gly593= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Gly904Arg Single submitter aniridia ⚠
p.His400Arg Single submitter monogenic diabetes ⚠
p.His400Gln Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.His775Tyr Single submitter Inborn genetic diseases ⚠
p.Leu352= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Leu373Val Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Lys832Glu Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Met1Ile Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Pro166Ala Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Pro270= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Pro282Ala Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Pro362Gln Single submitter monogenic diabetes ⚠
p.Pro437Leu Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Pro456= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Pro596= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Pro846= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Pro96Leu Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Ser203= Single submitter
p.Ser236Ala Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ser253= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Ser323= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Ser35= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Ser357= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Ser41Leu Single submitter Inborn genetic diseases
p.Ser687Phe Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ser856= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Thr440= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Thr624= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Tyr348= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Val265Phe Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Val697Met Single submitter Inborn genetic diseases ⚠
p.Val74Met Single submitter Inborn genetic diseases

Benign 81

c.1710+55G>A Multiple submitters
c.1711-162T>C Multiple submitters
c.1711-66A>T Multiple submitters
c.1711-99C>T Multiple submitters
c.1873-51A>G Multiple submitters
c.1983+77G>C Multiple submitters
c.1984-152T>C Multiple submitters
c.2128+182T>A Multiple submitters
c.2128+255T>C Multiple submitters
c.2129-51C>T Multiple submitters
c.2129-98G>A Multiple submitters
c.2474-139G>A Multiple submitters
c.2656+122C>T Multiple submitters
c.2656+123G>A Multiple submitters
c.2656+98A>G Multiple submitters
c.388+52C>G Multiple submitters
c.597-168G>A Multiple submitters
c.-131G>A Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.-270C>A Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.-681C>T Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.-98-132T>G Multiple submitters
c.-98-80T>C Multiple submitters
c.*1152T>G Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*1197G>C Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*1232T>G Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*1562A>C Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*1602T>G Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*1832A>G Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*2191G>A Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*2460C>T Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*2732G>A Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*3012G>C Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*3257A>G Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*3336A>T Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*448G>A Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*711C>G Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*712C>T Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Asp512Glu Multiple submitters monogenic diabetes
p.His824Arg Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Leu896Phe Multiple submitters monogenic diabetes
p.Pro376Ser Multiple submitters monogenic diabetes
p.Pro456Gln Multiple submitters diabetes mellitus ⚠
p.Ser424Pro Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Tyr627= Multiple submitters transient neonatal diabetes mellitus
c.1710+166G>A Single submitter
c.1872+292T>G Single submitter
c.1983+203_1983+226del Single submitter
c.1984-61C>A Single submitter
c.2129-1410G>C Single submitter
c.2129-196C>T Single submitter
c.2129-223G>A Single submitter
c.2298-135A>G Single submitter
c.2473+44dup Single submitter
c.2474-301G>C Single submitter
c.2656+103C>T Single submitter
c.2656+180T>C Single submitter
c.2657-201T>C Single submitter
c.2657-288T>C Single submitter
c.2657-306T>C Single submitter
c.389-248C>T Single submitter
c.596+79AC[12] Single submitter
c.596+79AC[13] Single submitter
c.596+79AC[14] Single submitter
c.596+79AC[9] Single submitter
c.597-243G>A Single submitter
c.-524C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-636C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-98-149G>A Single submitter
c.-98-293T>C Single submitter
c.*1760T>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1827T>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2326C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2806G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2813C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2856A>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2891G>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2944T>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3218A>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3409G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3692A>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Pro364= Single submitter transient neonatal diabetes mellitus

Benign/Likely benign 15

c.2297+11_2297+12del Multiple submitters
p.Ala908Val Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Arg503= Multiple submitters
p.Arg589= Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Asn57= Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Gly313Ala Multiple submitters monogenic diabetes
p.Gly406Cys Multiple submitters transient neonatal diabetes mellitus
p.Ile505= Multiple submitters
p.Leu248= Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Leu443= Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Pro364Ser Multiple submitters monogenic diabetes
p.Pro420= Multiple submitters transient neonatal diabetes mellitus
p.Ser298Tyr Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Thr318= Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Thr440Ala Multiple submitters transient neonatal diabetes mellitus

Likely benign 150

c.1710+16G>A Multiple submitters
c.1984-16C>T Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.2297+16T>C Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.2473+13C>T Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.2473+200T>C Multiple submitters
c.2657-17C>T Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Ala185= Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Ala30Val Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Asp421= Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Asp442= Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Glu515Asp Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.His465= Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Pro307= Multiple submitters Inborn genetic diseases
p.Pro703= Multiple submitters
p.Ser562= Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Ser807= Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Thr215= Multiple submitters
c.1710+10C>T Single submitter
c.1710+16G>T Single submitter
c.1711-19_1711-18dup Single submitter
c.1872+174T>C Single submitter
c.1873-11T>C Single submitter
c.1873-23TTCT[3] Single submitter
c.1873-23TTCT[5] Single submitter
c.1983+19C>T Single submitter
c.1984-15G>A Single submitter
c.1984-17C>T Single submitter
c.2128+11C>A Single submitter
c.2128+19G>C Single submitter
c.2129-18G>A Single submitter
c.2129-196C>A Single submitter
c.2297+11C>G Single submitter
c.2297+17C>G Single submitter
c.2297+9A>G Single submitter
c.2298-108dup Single submitter
c.2473+12G>A Single submitter
c.2473+19G>T Single submitter
c.2474-8C>T Single submitter
c.2656+16G>C Single submitter
c.2656+20C>T Single submitter
c.2657-19T>C Single submitter
c.2657-4C>G Single submitter
c.2657-8T>C Single submitter
c.388+21C>A Single submitter
c.388+292G>A Single submitter
c.596+14T>G Single submitter
c.596+9T>A Single submitter
c.597-13G>A Single submitter
c.-523C>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-98-177A>T Single submitter
c.*1116G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1166G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1636G>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2034T>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2404A>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2707T>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2787G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2850C>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2890C>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3189C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3601C>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*557A>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*673T>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Ala296= Single submitter
p.Ala383= Single submitter
p.Ala389Val Single submitter Inborn genetic diseases
p.Ala425= Single submitter
p.Ala481= Single submitter
p.Ala539= Single submitter
p.Ala727= Single submitter
p.Arg335= Single submitter
p.Arg363Cys Single submitter Inborn genetic diseases
p.Arg529= Single submitter
p.Arg544= Single submitter
p.Arg551= Single submitter
p.Arg559= Single submitter
p.Arg780= Single submitter
p.Asn263= Single submitter
p.Asn332= Single submitter
p.Asn610= Single submitter
p.Asn72Ser Single submitter Inborn genetic diseases
p.Asp387= Single submitter
p.Asp761= Single submitter
p.Cys507= Single submitter
p.Gly257= Single submitter
p.Gly3= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Gly333= Single submitter
p.Gly356= Single submitter
p.Gly388= Single submitter
p.Gly419= Single submitter
p.Gly457= Single submitter
p.Gly531= Single submitter
p.Gly828= Single submitter
p.His240= Single submitter
p.His500= Single submitter
p.His520= Single submitter
p.His736= Single submitter
p.Ile141Thr Single submitter
p.Ile331= Single submitter
p.Ile521= Single submitter
p.Leu403= Single submitter
p.Leu443Val Single submitter transient neonatal diabetes mellitus
p.Leu482= Single submitter
p.Leu510= Single submitter
p.Leu555= Single submitter
p.Leu789= Single submitter
p.Leu896= Single submitter
p.Leu901= Single submitter
p.Leu91= Single submitter
p.Lys530= Single submitter
p.Met51Ile Single submitter Inborn genetic diseases
p.Phe274= Single submitter
p.Phe351= Single submitter
p.Phe874= Single submitter
p.Pro235= Single submitter
p.Pro345= Single submitter
p.Pro445= Single submitter
p.Pro453= Single submitter
p.Pro461= Single submitter
p.Pro475= Single submitter
p.Pro602= Single submitter
p.Pro670= Single submitter
p.Pro729= Single submitter
p.Pro730= Single submitter
p.Pro835= Single submitter
p.Pro839= Single submitter
p.Pro846Leu Single submitter
p.Pro890= Single submitter
p.Ser219= Single submitter
p.Ser326= Single submitter
p.Ser342= Single submitter
p.Ser424= Single submitter
p.Ser870Gly Single submitter Inborn genetic diseases
p.Ser879= Single submitter
p.Ser882= Single submitter
p.Ser894= Single submitter
p.Ser903= Single submitter
p.Thr210= Single submitter
p.Thr430= Single submitter
p.Thr678= Single submitter
p.Thr686= Single submitter
p.Thr797= Single submitter
p.Thr928= Single submitter
p.Tyr231= Single submitter
p.Tyr272= Single submitter
p.Val441Leu Single submitter Inborn genetic diseases
c.2656+8G>C No assertion criteria
c.*5T>C No assertion criteria GLIS3-related disorder
p.Pro418= No assertion criteria GLIS3-related disorder
p.Ser337= No assertion criteria GLIS3-related disorder

Uncertain significance 461

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

c.596+6A>C Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*3330G>A Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*3344T>A Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*3920G>A Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
c.*69T>C Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Ala233Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala446Val Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ala615Ser Multiple submitters congenital hypothyroidism
p.Ala691Val Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ala693Thr Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ala784Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg32Pro Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Arg637Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg663Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg720Gln Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Arg780Gln Multiple submitters monogenic diabetes ⚠
p.Arg902Cys Multiple submitters monogenic diabetes ⚠
p.Arg902His Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Arg918His Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Asn176Ser Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Asn317Ser Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Asn409Lys Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Asp310Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys676Phe Multiple submitters Inborn genetic diseases
p.Gln404Lys Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Gln753Arg Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Glu393Lys Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Glu472Asp Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Glu667Ala Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Gly130Arg Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Gly313Arg Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Gly36Arg Multiple submitters monogenic diabetes
p.Gly385Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly385Val Multiple submitters monogenic diabetes ⚠
p.Gly491Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly603Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly603Asp Multiple submitters Inborn genetic diseases
p.Gly763Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly825Ala Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Gly898= Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Gly898Arg Multiple submitters Inborn genetic diseases ⚠
p.His11Tyr Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.His467Pro Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.His824Pro Multiple submitters Inborn genetic diseases ⚠
p.Ile28Val Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Ile521Val Multiple submitters Inborn genetic diseases
p.Ile844Thr Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Leu237Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu757Pro Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Leu84Phe Multiple submitters Inborn genetic diseases
p.Leu923Phe Multiple submitters ⚠
p.Met186Val Multiple submitters Inborn genetic diseases ⚠
p.Met8Ile Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Phe436Val Multiple submitters Inborn genetic diseases ⚠
p.Pro127Leu Multiple submitters Inborn genetic diseases
p.Pro17Ala Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Pro255His Multiple submitters Inborn genetic diseases ⚠
p.Pro338Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro382Gln Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Pro405Leu Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Pro40Leu Multiple submitters Inborn genetic diseases
p.Pro42Leu Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Pro444Ser Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Pro447Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro453Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro63Ser Multiple submitters Inborn genetic diseases
p.Pro703Ser Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Pro750Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro835Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro839Ala Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ser14Trp Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Ser213Asn Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ser253Ile Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ser289Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser665Asn Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ser856Trp Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ser879Leu Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ser879Trp Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ser894Leu Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Thr111Ala Multiple submitters Inborn genetic diseases
p.Thr570Met Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Thr812Ala Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Thr92Ile Multiple submitters Inborn genetic diseases
p.Tyr808Cys Multiple submitters Inborn genetic diseases ⚠
p.Val158Phe Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Val848Leu Multiple submitters Inborn genetic diseases ⚠
p.Val916_Cys919delinsArg Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism
p.Val916Met Multiple submitters neonatal diabetes mellitus with congenital hypothyroidism ⚠
c.1710+59006G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.1710+80188T>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.1711-9T>G Single submitter
c.1983+3A>T Single submitter
c.1983+6T>G Single submitter
c.1983+9_1983+10insGGAAAAAGGTAATTTTATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGTCAGGGGCGCGCTTACGCGGGGAGGCTCCTGTGCTCTCCGGCTGCTGGGGCGACGGGTTTGGGGGGGGGGGGGTTAGCTGGGAGGGGAGAATCCAACAATC Single submitter
c.2474-1G>C Single submitter
c.2656+3G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.389-58616G>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.389-7364T>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.596+8G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-110C>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-115G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-132C>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-154C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-165C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-204C>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-205C>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-223C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-344C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-345C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-379C>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-419T>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-510T>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-514G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-542C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-588C>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-588C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-619C>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-641C>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-79G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.-98-4A>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1002T>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1120C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1145G>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1208C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1209G>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1276G>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1286G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1416G>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1458G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1487A>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1507T>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1566T>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1673A>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1686T>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*172G>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1744A>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1765G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1901G>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*1942G>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2052C>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2113G>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*216A>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2185G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2203A>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2320G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2373C>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2411A>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2426T>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2454G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2499T>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*253G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2657T>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2697T>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2759A>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2764C>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2766G>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2828A>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2914G>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2927T>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2962G>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2968T>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*2992C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3011C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3028G>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*30G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3137C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3336del Single submitter
c.*3337T>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3338T>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3339T>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3340T>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3343T>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3394T>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3441T>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3576G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3611T>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3641A>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*372G>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3764G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*391C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3934A>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*3948G>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*4017T>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*513G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*515G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*564C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*593G>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*679C>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*701T>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*818C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*836A>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*863T>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*962G>A Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*963T>C Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*969C>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*969C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*975C>G Single submitter neonatal diabetes mellitus with congenital hypothyroidism
c.*99C>T Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Ala296Thr Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ala329Val Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ala336Ser Single submitter ⚠
p.Ala33Asp Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Ala375Asp Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ala375Val Single submitter ⚠
p.Ala380Gly Single submitter Inborn genetic diseases ⚠
p.Ala425Thr Single submitter ⚠
p.Ala425Val Single submitter Inborn genetic diseases ⚠
p.Ala509Val Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ala539Val Single submitter Inborn genetic diseases ⚠
p.Ala658Glu Single submitter Inborn genetic diseases ⚠
p.Ala691Asp Single submitter Inborn genetic diseases ⚠
p.Ala69Thr Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Ala768Thr Single submitter ⚠
p.Ala768Val Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Ala83= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Arg12Gln Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Arg12Trp Single submitter Inborn genetic diseases
p.Arg204Cys Single submitter Inborn genetic diseases ⚠
p.Arg204His Single submitter Inborn genetic diseases ⚠
p.Arg21Lys Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Arg232Lys Single submitter Inborn genetic diseases ⚠
p.Arg287Gln Single submitter Inborn genetic diseases ⚠
p.Arg32Gly Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Arg355Ser Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Arg394Cys Single submitter Inborn genetic diseases ⚠
p.Arg394His Single submitter Inborn genetic diseases ⚠
p.Arg503Cys Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Arg543Gln Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Arg637Gly Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Arg637His Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Arg663Pro Single submitter Inborn genetic diseases ⚠
p.Arg663Trp Single submitter Inborn genetic diseases
p.Arg780Gly Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Arg780Trp Single submitter ⚠
p.Arg843Lys Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Arg88Lys Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Arg902Leu Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Arg918Cys Single submitter Inborn genetic diseases ⚠
p.Arg918Gly Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Asn549Asp Single submitter Inborn genetic diseases ⚠
p.Asn56Asp Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Asn716His Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Asn72Ile Single submitter Inborn genetic diseases
p.Asn749Ile Single submitter Inborn genetic diseases ⚠
p.Asn813Asp Single submitter Inborn genetic diseases ⚠
p.Asn93Ile Single submitter Inborn genetic diseases
p.Asn93Ser Single submitter Inborn genetic diseases
p.Asp197Val Single submitter monogenic diabetes ⚠
p.Asp421Glu Single submitter ⚠
p.Asp488Glu Single submitter monogenic diabetes ⚠
p.Asp494Asn Single submitter ⚠
p.Asp506Glu Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Asp506Val Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Asp671Glu Single submitter Inborn genetic diseases ⚠
p.Asp675Gly Single submitter Inborn genetic diseases ⚠
p.Asp761Asn Single submitter ⚠
p.Asp840Asn Single submitter ⚠
p.Asp859Gly Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Asp907Glu Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Cys676Ser Single submitter ⚠
p.Cys860Tyr Single submitter Inborn genetic diseases ⚠
p.Gln170Glu Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Gln183Arg Single submitter ⚠
p.Gln218Glu Single submitter ⚠
p.Gln397Arg Single submitter Inborn genetic diseases ⚠
p.Gln479His Single submitter Inborn genetic diseases ⚠
p.Gln513Arg Single submitter Inborn genetic diseases ⚠
p.Gln605Pro Single submitter Inborn genetic diseases ⚠
p.Gln71Glu Single submitter Inborn genetic diseases
p.Gln793His Single submitter Inborn genetic diseases ⚠
p.Gln799Lys Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Gln829Lys Single submitter Inborn genetic diseases ⚠
p.Gln912His Single submitter ⚠
p.Gln922Leu Single submitter monogenic diabetes ⚠
p.Gln99Arg Single submitter Inborn genetic diseases
p.Glu277Ala Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Glu391Val Single submitter ⚠
p.Glu434Lys Single submitter ⚠
p.Glu564Asp Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Glu575Lys Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Glu694Lys Single submitter Inborn genetic diseases ⚠
p.Glu899Asp Single submitter Inborn genetic diseases ⚠
p.Glu906Lys Single submitter ⚠
p.Glu929Asp Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Glu929Lys Single submitter ⚠
p.Gly108Arg Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Gly108Val Single submitter Inborn genetic diseases
p.Gly133Ala Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Gly15Arg Single submitter Inborn genetic diseases
p.Gly230= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Gly241Val Single submitter Inborn genetic diseases ⚠
p.Gly333Arg Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Gly371Cys Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Gly401= Single submitter neonatal diabetes mellitus with congenital hypothyroidism
p.Gly402Ser Single submitter Inborn genetic diseases ⚠
p.Gly416Asp Single submitter Inborn genetic diseases ⚠
p.Gly426Cys Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Gly495Arg Single submitter Inborn genetic diseases ⚠
p.Gly495Ser Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠
p.Gly497Arg Single submitter neonatal diabetes mellitus with congenital hypothyroidism ⚠