PROP1 — 316 ClinVar variants
All ClinVar germline PROP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
20 Pathogenic · 15 Pathogenic/Likely pathogenic · 52 Likely pathogenic · 15 Conflicting · 13 Benign · 2 Benign/Likely benign · 118 Likely benign · 81 Uncertain significance
Full PROP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 25
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PROP1 p.Ala152Thr
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Arg129His
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Asp193Glu
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Gln190Lys
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Gly204Arg
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Gly89Val
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.His199Arg
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Leu131Gln
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Leu132Ile
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Leu198Met
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Met214Ile
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Phe167Ile
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Pro134His
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Pro161Leu
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Pro200Thr
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Pro202His
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Pro207Arg
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Pro209Arg
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Ser139Thr
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Ser145Thr
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Ser150Cys
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Ser177Thr
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Ser180Thr
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Thr151Ala
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Tyr155Asp
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PROP1 p.Ala142Val
Conflicting
Single submitter
pituitary hormone deficiency, combined, 2
-
PROP1 p.Arg120His
Conflicting
Single submitter
Inborn genetic diseases
-
PROP1 p.Gly18Ser
Conflicting
Single submitter
pituitary hormone deficiency, combined, 2
-
PROP1 p.Gly51Val
Conflicting
Single submitter
pituitary hormone deficiency, combined, 2
Predictors lean, ClinVar uncertain 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PROP1 p.Ala184Pro Uncertain significance Multiple submitters
-
PROP1 p.Ala186Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PROP1 p.Arg112Gln
Uncertain significance
Multiple submitters
pituitary hormone deficiency, combined, 2
-
PROP1 p.Arg16Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PROP1 p.Arg70His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PROP1 p.Arg7Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PROP1 p.Gly51Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PROP1 p.Pro27Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PROP1 p.Ser224Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PROP1 p.Ala158Thr
Uncertain significance
Single submitter
pituitary hormone deficiency, combined, 2
- PROP1 p.Ala184Asp Uncertain significance Single submitter
- PROP1 p.Ala184Thr Uncertain significance Single submitter
-
PROP1 p.Ala184Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Ala98Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Arg16Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- PROP1 p.Arg65Cys Uncertain significance Single submitter
-
PROP1 p.Arg69Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Asp193Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Asp37Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Gln114Lys
Uncertain significance
Single submitter
pituitary hormone deficiency, combined, 2
-
PROP1 p.Gln127Lys
Uncertain significance
Single submitter
pituitary hormone deficiency, combined, 2
-
PROP1 p.Gln80His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Gln92Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Glu10Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Glu82Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Gly15Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Gly18Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- PROP1 p.Gly51Arg Uncertain significance Single submitter
-
PROP1 p.His67Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- PROP1 p.Ile113Met Uncertain significance Single submitter
-
PROP1 p.Leu135Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Leu219Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Lys11Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Pro196Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PROP1 p.Pro210Leu Uncertain significance Single submitter
-
PROP1 p.Pro212Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- PROP1 p.Pro27Ser Uncertain significance Single submitter
-
PROP1 p.Pro42Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PROP1 p.Pro47Leu Uncertain significance Single submitter
-
PROP1 p.Pro66Leu
Uncertain significance
Single submitter
pituitary hormone deficiency, combined, 2
- PROP1 p.Pro78Ser Uncertain significance Single submitter
-
PROP1 p.Ser109Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Ser145Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- PROP1 p.Ser19Arg Uncertain significance Single submitter
-
PROP1 p.Ser38Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Ser86Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PROP1 p.Thr106Ser Uncertain significance Single submitter
-
PROP1 p.Thr165Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PROP1 p.Thr74Ser Uncertain significance Single submitter
- PROP1 p.Tyr155Cys Uncertain significance Single submitter
-
PROP1 p.Ala158Ser
Uncertain significance
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Arg44Lys
Uncertain significance
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Gly107Ser
Uncertain significance
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Gly60Ala
Uncertain significance
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Leu81Phe
Uncertain significance
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Pro211His
Uncertain significance
No assertion criteria
PROP1-related disorder
-
PROP1 p.Ser101Ile
Uncertain significance
No assertion criteria
disorder of sexual differentiation
-
PROP1 p.Thr74Ile
Uncertain significance
No assertion criteria
pituitary hormone deficiency, combined, 2
Predictors split 5
The independent predictors disagree with each other — read with care.
-
PROP1 p.Arg104Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PROP1 p.Pro163Gln Uncertain significance Single submitter
-
PROP1 p.Ser144Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PROP1 p.Trp194Arg
Likely pathogenic
No assertion criteria
pituitary hormone deficiency, combined, 2
-
PROP1 p.Trp225Arg
Uncertain significance
No assertion criteria
pituitary hormone deficiency, combined, 2
All PROP1 variants
Pathogenic 20
- c.109+1G>A Multiple submitters pituitary hormone deficiency, combined, 2
- p.Arg125Trp Multiple submitters pituitary hormone deficiency, combined, 2
- p.Arg73Cys Multiple submitters pituitary hormone deficiency, combined, 2
- p.Arg73His Multiple submitters pituitary hormone deficiency, combined, 2
- p.Arg99Ter Multiple submitters PROP1-related disorder
- p.Leu22fs Multiple submitters pituitary hormone deficiency, combined, 2
- c.109+1G>C Single submitter
- c.343-2A>T Single submitter pituitary hormone deficiency, combined, 2
- p.Ala186fs Single submitter pituitary hormone deficiency, combined, 2
- p.Arg73fs Single submitter
- p.Cys43Ter Single submitter
- p.Gln114Ter Single submitter pituitary hormone deficiency, combined, 2
- p.Gln118Ter Single submitter
- p.Met1Val Single submitter
- p.Ser39fs Single submitter
- p.Thr31fs Single submitter
- p.Tyr155fs Single submitter
- p.Tyr195fs Single submitter
- p.Gly52fs No assertion criteria pituitary hormone deficiency, combined, 2
- p.Phe88Ser No assertion criteria pituitary hormone deficiency, combined, 2
Pathogenic/Likely pathogenic 15
- p.Arg104fs Multiple submitters pituitary hormone deficiency, combined, 2
- p.Arg112Ter Multiple submitters pituitary hormone deficiency, combined, 2
- p.Arg120Cys Multiple submitters pituitary hormone deficiency, combined, 2
- p.Arg16Ter Multiple submitters PROP1-related disorder
- p.Arg44fs Multiple submitters pituitary hormone deficiency, combined, 2
- p.Arg53fs Multiple submitters pituitary hormone deficiency, combined, 2
- p.Arg71Cys Multiple submitters pituitary hormone deficiency, combined, 2
- p.Arg99Gln Multiple submitters Inborn genetic diseases
- p.His26fs Multiple submitters pituitary hormone deficiency, combined, 2
- p.Leu102fs Multiple submitters Pituitary hormone deficiency
- p.Leu131fs Multiple submitters pituitary hormone deficiency, combined, 2
- p.Met1Thr Multiple submitters pituitary hormone deficiency, combined, 2
- p.Phe117Ile Multiple submitters Pituitary hormone deficiency
- p.Pro32fs Multiple submitters pituitary hormone deficiency, combined, 2
- p.Ser130fs Multiple submitters pituitary hormone deficiency, combined, 2
Likely pathogenic 52
- c.110-2A>G Multiple submitters pituitary hormone deficiency, combined, 2
- c.343-1G>A Multiple submitters pituitary hormone deficiency, combined, 2
- p.Arg125Gln Multiple submitters combined pituitary hormone deficiencies, genetic form
- p.Gly204fs Multiple submitters pituitary hormone deficiency, combined, 2
- p.Pro210fs Multiple submitters pituitary hormone deficiency, combined, 2
- p.Pro211fs Multiple submitters pituitary hormone deficiency, combined, 2
- c.109+1G>T Single submitter pituitary hormone deficiency, combined, 2
- c.342+1G>A Single submitter pituitary hormone deficiency, combined, 2
- c.343-11C>G Single submitter Pituitary hormone deficiency
- p.Arg71His Single submitter pituitary hormone deficiency, combined, 2
- p.Gln133Ter Single submitter pituitary hormone deficiency, combined, 2
- p.Gln190Ter Single submitter pituitary hormone deficiency, combined, 2
- p.Gly183fs Single submitter pituitary hormone deficiency, combined, 2
- p.Leu198fs Single submitter pituitary hormone deficiency, combined, 2
- p.Met1Ile Single submitter pituitary hormone deficiency, combined, 2
- p.Pro23_Glu24insTer Single submitter pituitary hormone deficiency, combined, 2
- p.Ser156fs Single submitter pituitary hormone deficiency, combined, 2
- p.Ser38fs Single submitter pituitary hormone deficiency, combined, 2
- p.Trp194Ter Single submitter
- p.Ala122Asp No assertion criteria pituitary hormone deficiency, combined, 2
- p.Ala152Thr No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Arg120Leu No assertion criteria pituitary hormone deficiency, combined, 2
- p.Arg129His No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Arg65fs No assertion criteria pituitary hormone deficiency, combined, 2
- p.Asp193Glu No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Gln190Lys No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Gln80Ter No assertion criteria pituitary hormone deficiency, combined, 2
- p.Gln92Ter No assertion criteria pituitary hormone deficiency, combined, 2
- p.Gly204Arg No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Gly89Val No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.His199Arg No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.His67fs No assertion criteria pituitary hormone deficiency, combined, 2
- p.Ile96fs No assertion criteria pituitary hormone deficiency, combined, 2
- p.Leu131Gln No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Leu132Ile No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Leu198Met No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Met214Ile No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Phe167Ile No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Pro134His No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Pro161Leu No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Pro200Thr No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Pro202His No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Pro207Arg No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Pro209Arg No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Ser139Thr No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Ser145Thr No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Ser150Cys No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Ser177Thr No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Ser180Thr No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Thr151Ala No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Trp194Arg No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Tyr155Asp No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
Conflicting classifications of pathogenicity 15
- c.109+13C>T Single submitter pituitary hormone deficiency, combined, 2
- c.-302G>A Single submitter pituitary hormone deficiency, combined, 2
- c.*52G>A Single submitter pituitary hormone deficiency, combined, 2
- p.Ala141= Single submitter
- p.Ala142Val Single submitter pituitary hormone deficiency, combined, 2 ⚠
- p.Ala152= Single submitter pituitary hormone deficiency, combined, 2
- p.Arg120His Single submitter Inborn genetic diseases ⚠
- p.Arg129Cys Single submitter Inborn genetic diseases
- p.Gln178= Single submitter pituitary hormone deficiency, combined, 2
- p.Gly18Ser Single submitter pituitary hormone deficiency, combined, 2 ⚠
- p.Gly51Val Single submitter pituitary hormone deficiency, combined, 2 ⚠
- p.Pro32= Single submitter pituitary hormone deficiency, combined, 2
- p.Pro78= Single submitter pituitary hormone deficiency, combined, 2
- p.Tyr157= Single submitter pituitary hormone deficiency, combined, 2
- p.Tyr157Ter Single submitter pituitary hormone deficiency, combined, 2
Benign 13
- c.109+3G>A Multiple submitters pituitary hormone deficiency, combined, 2
- c.-210A>C Multiple submitters pituitary hormone deficiency, combined, 2
- c.*123T>C Multiple submitters pituitary hormone deficiency, combined, 2
- p.Ala9= Multiple submitters pituitary hormone deficiency, combined, 2
- p.Asn20Ser Multiple submitters pituitary hormone deficiency, combined, 2
- p.Gly51Ala Multiple submitters pituitary hormone deficiency, combined, 2
- c.109+223T>C Single submitter
- c.109+290C>G Single submitter
- c.109+435G>A Single submitter pituitary hormone deficiency, combined, 2
- c.110-58G>C Single submitter
- c.342+142T>C Single submitter
- c.*354G>A Single submitter pituitary hormone deficiency, combined, 2
- c.*419C>T Single submitter pituitary hormone deficiency, combined, 2
Benign/Likely benign 2
- c.109+11G>A Multiple submitters
- p.Ala142Thr Multiple submitters pituitary hormone deficiency, combined, 2
Likely benign 118
- c.109+14C>T Multiple submitters
- c.109+16G>A Multiple submitters
- p.Pro94= Multiple submitters
- p.Ser180= Multiple submitters
- p.Tyr171= Multiple submitters Inborn genetic diseases
- c.109+10C>T Single submitter
- c.109+15C>T Single submitter
- c.109+16G>C Single submitter
- c.109+17G>A Single submitter
- c.109+20T>C Single submitter
- c.109+8A>C Single submitter
- c.109+8A>G Single submitter
- c.109+9C>T Single submitter
- c.110-107T>C Single submitter
- c.110-16T>C Single submitter
- c.110-20del Single submitter
- c.110-20T>C Single submitter
- c.110-8G>A Single submitter pituitary hormone deficiency, combined, 2
- c.110-8G>T Single submitter
- c.110-9C>T Single submitter
- c.342+7C>T Single submitter
- c.343-10C>G Single submitter
- c.343-11C>T Single submitter
- c.343-18G>C Single submitter
- c.343-18G>T Single submitter
- c.343-268T>C Single submitter
- c.343-5C>A Single submitter
- c.343-5C>T Single submitter
- c.343-8C>A Single submitter
- c.343-9C>A Single submitter
- c.*120C>T Single submitter
- p.Ala103= Single submitter
- p.Ala136= Single submitter
- p.Ala142= Single submitter
- p.Ala158= Single submitter
- p.Ala159= Single submitter
- p.Ala174= Single submitter
- p.Ala203= Single submitter
- p.Ala3= Single submitter
- p.Ala49= Single submitter
- p.Arg104= Single submitter
- p.Arg104Gln Single submitter pituitary hormone deficiency, combined, 2
- p.Arg112= Single submitter
- p.Arg16= Single submitter
- p.Arg44= Single submitter
- p.Arg45= Single submitter
- p.Arg65= Single submitter
- p.Arg69= Single submitter
- p.Asn119= Single submitter
- p.Asp37= Single submitter
- p.Asp95= Single submitter
- p.Cys153= Single submitter
- p.Cys208= Single submitter pituitary hormone deficiency, combined, 2
- p.Gln118= Single submitter
- p.Gln80= Single submitter
- p.Gln83= Single submitter pituitary hormone deficiency, combined, 2
- p.Gln92= Single submitter
- p.Glu10= Single submitter
- p.Glu128= Single submitter
- p.Glu149= Single submitter
- p.Glu2= Single submitter
- p.Gly15= Single submitter
- p.Gly18= Single submitter
- p.Gly183= Single submitter
- p.Gly30= Single submitter
- p.Gly50= Single submitter
- p.Gly51= Single submitter pituitary hormone deficiency, combined, 2
- p.Gly52= Single submitter
- p.Gly60Glu Single submitter
- p.Gly61= Single submitter
- p.Gly64= Single submitter
- p.His137= Single submitter
- p.His26= Single submitter
- p.His67= Single submitter
- p.Leu102= Single submitter
- p.Leu108= Single submitter
- p.Leu131= Single submitter
- p.Leu132= Single submitter
- p.Leu138= Single submitter
- p.Leu198= Single submitter
- p.Leu206= Single submitter
- p.Leu21= Single submitter
- p.Leu215= Single submitter
- p.Leu22= Single submitter
- p.Lys13= Single submitter
- p.Phe167= Single submitter
- p.Phe76= Single submitter
- p.Pro154= Single submitter
- p.Pro200= Single submitter pituitary hormone deficiency, combined, 2
- p.Pro209= Single submitter
- p.Pro210= Single submitter
- p.Pro211= Single submitter
- p.Pro212= Single submitter
- p.Pro27= Single submitter
- p.Pro32Leu Single submitter Inborn genetic diseases
- p.Pro42= Single submitter
- p.Pro47= Single submitter
- p.Pro58= Single submitter
- p.Pro66= Single submitter
- p.Ser101= Single submitter pituitary hormone deficiency, combined, 2
- p.Ser109= Single submitter
- p.Ser130= Single submitter
- p.Ser172= Single submitter
- p.Ser191= Single submitter
- p.Ser38= Single submitter
- p.Ser39= Single submitter
- p.Ser57= Single submitter
- p.Ser68= Single submitter
- p.Thr106= Single submitter
- p.Thr165= Single submitter
- p.Thr197= Single submitter
- p.Thr29= Single submitter
- p.Thr31= Single submitter
- p.Thr33= Single submitter
- p.Thr74= Single submitter
- p.Tyr93= Single submitter pituitary hormone deficiency, combined, 2
- p.Val17= Single submitter
- p.Ala28= No assertion criteria pituitary hormone deficiency, combined, 2
Uncertain significance 81
- p.Ala184Pro Multiple submitters ⚠
- p.Ala186Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg104Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg112Gln Multiple submitters pituitary hormone deficiency, combined, 2 ⚠
- p.Arg16Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg70His Multiple submitters Inborn genetic diseases ⚠
- p.Arg7Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gln92His Multiple submitters Inborn genetic diseases
- p.Gly51Trp Multiple submitters Inborn genetic diseases ⚠
- p.Pro27Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser224Cys Multiple submitters Inborn genetic diseases ⚠
- c.110-41G>A Single submitter
- c.110-659G>T Single submitter
- c.-160C>T Single submitter pituitary hormone deficiency, combined, 2
- c.-260A>T Single submitter pituitary hormone deficiency, combined, 2
- c.-6C>A Single submitter
- c.*37C>T Single submitter pituitary hormone deficiency, combined, 2
- c.*434T>A Single submitter pituitary hormone deficiency, combined, 2
- c.*468C>T Single submitter pituitary hormone deficiency, combined, 2
- p.Ala158Thr Single submitter pituitary hormone deficiency, combined, 2 ⚠
- p.Ala159_Pro160insAla Single submitter Inborn genetic diseases
- p.Ala184Asp Single submitter ⚠
- p.Ala184Thr Single submitter ⚠
- p.Ala184Val Single submitter Inborn genetic diseases ⚠
- p.Ala98Thr Single submitter Inborn genetic diseases ⚠
- p.Arg16Gln Single submitter Inborn genetic diseases ⚠
- p.Arg65Cys Single submitter ⚠
- p.Arg69Gln Single submitter Inborn genetic diseases ⚠
- p.Asn20= Single submitter
- p.Asp193Gly Single submitter Inborn genetic diseases ⚠
- p.Asp37Ala Single submitter Inborn genetic diseases ⚠
- p.Gln114Lys Single submitter pituitary hormone deficiency, combined, 2 ⚠
- p.Gln127Lys Single submitter pituitary hormone deficiency, combined, 2 ⚠
- p.Gln80His Single submitter Inborn genetic diseases ⚠
- p.Gln92Arg Single submitter Inborn genetic diseases ⚠
- p.Glu10Lys Single submitter Inborn genetic diseases ⚠
- p.Glu82Gln Single submitter Inborn genetic diseases ⚠
- p.Gly15Trp Single submitter Inborn genetic diseases ⚠
- p.Gly18Cys Single submitter Inborn genetic diseases ⚠
- p.Gly51Arg Single submitter ⚠
- p.His67Gln Single submitter Inborn genetic diseases ⚠
- p.Ile113Met Single submitter ⚠
- p.Leu135Val Single submitter Inborn genetic diseases ⚠
- p.Leu219Phe Single submitter Inborn genetic diseases ⚠
- p.Lys11Arg Single submitter Inborn genetic diseases ⚠
- p.Pro163Gln Single submitter ⚠
- p.Pro196Leu Single submitter Inborn genetic diseases ⚠
- p.Pro210Leu Single submitter ⚠
- p.Pro212Ala Single submitter Inborn genetic diseases ⚠
- p.Pro27Ser Single submitter ⚠
- p.Pro42Leu Single submitter Inborn genetic diseases ⚠
- p.Pro47Leu Single submitter ⚠
- p.Pro66Leu Single submitter pituitary hormone deficiency, combined, 2 ⚠
- p.Pro78Ser Single submitter ⚠
- p.Ser109Thr Single submitter Inborn genetic diseases ⚠
- p.Ser144Phe Single submitter Inborn genetic diseases ⚠
- p.Ser145Gly Single submitter Inborn genetic diseases ⚠
- p.Ser19Arg Single submitter ⚠
- p.Ser38Leu Single submitter Inborn genetic diseases ⚠
- p.Ser86Thr Single submitter Inborn genetic diseases ⚠
- p.Thr106Ser Single submitter ⚠
- p.Thr165Ser Single submitter Inborn genetic diseases ⚠
- p.Thr74Ser Single submitter ⚠
- p.Thr75Ile Single submitter Inborn genetic diseases
- p.Tyr155Cys Single submitter ⚠
- c.-7G>A No assertion criteria pituitary hormone deficiency, combined, 2
- p.Ala158Ser No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Arg44Lys No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Arg7dup No assertion criteria pituitary hormone deficiency, combined, 2
- p.Gly107Cys No assertion criteria pituitary hormone deficiency, combined, 2
- p.Gly107Ser No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Gly60Ala No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Leu81Phe No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Lys14del No assertion criteria pituitary hormone deficiency, combined, 2
- p.Pro162= No assertion criteria pituitary hormone deficiency, combined, 2
- p.Pro211His No assertion criteria PROP1-related disorder ⚠
- p.Ser101Ile No assertion criteria disorder of sexual differentiation ⚠
- p.Ser218fs No assertion criteria pituitary hormone deficiency, combined, 2
- p.Thr74Ile No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Trp225Arg No assertion criteria pituitary hormone deficiency, combined, 2 ⚠
- p.Val164= No assertion criteria pituitary hormone deficiency, combined, 2