POLR1C — 264 ClinVar variants
All ClinVar germline POLR1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 119 flagged for review →
21 Pathogenic · 12 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 27 Conflicting · 8 Benign · 1 Benign/Likely benign · 64 Likely benign · 116 Uncertain significance
Full POLR1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 119
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 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
POLR1C p.Arg301Trp
Conflicting
Single submitter
Treacher Collins syndrome 3
-
POLR1C p.Asn74Ser
Conflicting
Single submitter
leukodystrophy, hypomyelinating, 11
-
POLR1C p.Asp69Tyr
Conflicting
Single submitter
leukodystrophy, hypomyelinating, 11
-
POLR1C p.Gly132Asp
Conflicting
Single submitter
Inborn genetic diseases
-
POLR1C p.His108Tyr
Conflicting
Single submitter
leukodystrophy, hypomyelinating, 11
-
POLR1C p.Ile199Phe
Conflicting
Single submitter
leukodystrophy, hypomyelinating, 11
-
POLR1C p.Leu184Val
Conflicting
Single submitter
Inborn genetic diseases
-
POLR1C p.Met65Val
Conflicting
Single submitter
Treacher Collins syndrome 3
-
POLR1C p.Val245Met
Conflicting
Single submitter
leukodystrophy, hypomyelinating, 11
Predictors lean, ClinVar uncertain 77
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
POLR1C p.Ala200Thr
Uncertain significance
Multiple submitters
Treacher Collins syndrome 3
-
POLR1C p.Ala342Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POLR1C p.Ala39Val
Uncertain significance
Multiple submitters
Treacher Collins syndrome 3
-
POLR1C p.Arg120Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POLR1C p.Arg148Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POLR1C p.Arg203Gln
Uncertain significance
Multiple submitters
hearing loss disorder
- POLR1C p.Arg203Trp Uncertain significance Multiple submitters
-
POLR1C p.Arg22His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- POLR1C p.Asn59Lys Uncertain significance Multiple submitters
-
POLR1C p.Ile68Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POLR1C p.Met56Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POLR1C p.Phe288Ser
Uncertain significance
Multiple submitters
leukodystrophy, hypomyelinating, 11
-
POLR1C p.Pro30Ala
Uncertain significance
Multiple submitters
leukodystrophy, hypomyelinating, 11
- POLR1C p.Thr98Ile Uncertain significance Multiple submitters
-
POLR1C p.Tyr33Cys
Uncertain significance
Multiple submitters
leukodystrophy, hypomyelinating, 11
-
POLR1C p.Val164Met
Uncertain significance
Multiple submitters
Treacher Collins syndrome 3
-
POLR1C p.Ala39Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Arg109Ser
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 11
-
POLR1C p.Arg289Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Arg289Trp
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 11
-
POLR1C p.Arg301Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- POLR1C p.Arg334Gln Uncertain significance Single submitter
- POLR1C p.Arg78Gln Uncertain significance Single submitter
-
POLR1C p.Asn160Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- POLR1C p.Asn277Ser Uncertain significance Single submitter
- POLR1C p.Asn96Ser Uncertain significance Single submitter
- POLR1C p.Asp183Glu Uncertain significance Single submitter
- POLR1C p.Asp196Gly Uncertain significance Single submitter
- POLR1C p.Asp221Tyr Uncertain significance Single submitter
- POLR1C p.Asp238His Uncertain significance Single submitter
- POLR1C p.Asp304Gly Uncertain significance Single submitter
- POLR1C p.Asp338Asn Uncertain significance Single submitter
-
POLR1C p.Asp43Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Cys214Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- POLR1C p.Gln344Arg Uncertain significance Single submitter
- POLR1C p.Glu161Lys Uncertain significance Single submitter
- POLR1C p.Glu18Val Uncertain significance Single submitter
-
POLR1C p.Glu252Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Glu263Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- POLR1C p.Glu266Lys Uncertain significance Single submitter
- POLR1C p.Glu291Asp Uncertain significance Single submitter
- POLR1C p.Gly179Glu Uncertain significance Single submitter
-
POLR1C p.Gly314Val
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 11
- POLR1C p.His151Leu Uncertain significance Single submitter
-
POLR1C p.His305Asn
Uncertain significance
Single submitter
Treacher Collins syndrome 3
- POLR1C p.His55Arg Uncertain significance Single submitter
-
POLR1C p.Ile135Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Ile190Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Ile199Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- POLR1C p.Ile199Val Uncertain significance Single submitter
-
POLR1C p.Ile208Val
Uncertain significance
Single submitter
Inborn genetic diseases
- POLR1C p.Leu112Pro Uncertain significance Single submitter
-
POLR1C p.Leu241Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- POLR1C p.Lys220Glu Uncertain significance Single submitter
- POLR1C p.Lys271Arg Uncertain significance Single submitter
-
POLR1C p.Lys295Glu
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 11
- POLR1C p.Lys332Gln Uncertain significance Single submitter
-
POLR1C p.Phe288Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Pro177Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Pro192Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- POLR1C p.Pro244Ser Uncertain significance Single submitter
- POLR1C p.Ser157Cys Uncertain significance Single submitter
-
POLR1C p.Ser226Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- POLR1C p.Ser284Asn Uncertain significance Single submitter
- POLR1C p.Ser323Thr Uncertain significance Single submitter
-
POLR1C p.Ser60Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Thr189Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Thr230Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Tyr163Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Val193Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Val24Ile
Uncertain significance
Single submitter
Treacher Collins syndrome 3
-
POLR1C p.Val296Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Val310Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- POLR1C p.Val315Met Uncertain significance Single submitter
- POLR1C p.Val320Ala Uncertain significance Single submitter
- POLR1C p.Val66Glu Uncertain significance Single submitter
- POLR1C p.Val66Gly Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
-
POLR1C p.Arg125Gln
Uncertain significance
Multiple submitters
Treacher Collins syndrome 3
-
POLR1C p.Arg335His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POLR1C p.His213Gln
Uncertain significance
Multiple submitters
Treacher Collins syndrome 3
-
POLR1C p.Ile105Phe
Pathogenic/Likely pathogenic
Multiple submitters
leukodystrophy, hypomyelinating, 11
-
POLR1C p.Ile239Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- POLR1C p.Pro159Ala Uncertain significance Multiple submitters
-
POLR1C p.Thr26Ile
Pathogenic
Multiple submitters
leukodystrophy, hypomyelinating, 11
-
POLR1C p.Thr282Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POLR1C p.Val343Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
POLR1C p.Arg11Gln
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 11
-
POLR1C p.Arg141Cys
Conflicting
Single submitter
leukodystrophy, hypomyelinating, 11
-
POLR1C p.Arg148Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Arg191Gln
Conflicting
Single submitter
leukodystrophy, hypomyelinating, 11
- POLR1C p.Arg334Trp Uncertain significance Single submitter
-
POLR1C p.Arg335Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- POLR1C p.Arg50Cys Uncertain significance Single submitter
- POLR1C p.Arg50Leu Uncertain significance Single submitter
- POLR1C p.Asp195His Conflicting Single submitter
- POLR1C p.Asp238Val Uncertain significance Single submitter
-
POLR1C p.Asp37Gly
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 11
-
POLR1C p.Glu207Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- POLR1C p.Gly31Ser Uncertain significance Single submitter
-
POLR1C p.His213Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.His25Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- POLR1C p.Lys216Arg Uncertain significance Single submitter
-
POLR1C p.Lys270Ile
Uncertain significance
Single submitter
Treacher Collins syndrome 3
-
POLR1C p.Pro318Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- POLR1C p.Ser309Ala Uncertain significance Single submitter
-
POLR1C p.Thr133Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
POLR1C p.Thr27Ala
Conflicting
Single submitter
leukodystrophy, hypomyelinating, 11
-
POLR1C p.Thr313Met
Conflicting
Single submitter
leukodystrophy, hypomyelinating, 11
-
POLR1C p.Tyr169Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- POLR1C p.Lys294Asn Uncertain significance No assertion criteria
All POLR1C variants
Pathogenic 21
- p.Arg77Ter Multiple submitters
- p.Gln206fs Multiple submitters leukodystrophy, hypomyelinating, 11
- p.Thr26Ile Multiple submitters leukodystrophy, hypomyelinating, 11 ⚠
- p.Tyr233Ter Multiple submitters leukodystrophy, hypomyelinating, 11
- c.69+1G>A Single submitter leukodystrophy, hypomyelinating, 11
- p.Ala117Pro Single submitter leukodystrophy, hypomyelinating, 11
- p.Arg191Ter Single submitter
- p.Arg303Ter Single submitter
- p.Asn32Ile Single submitter leukodystrophy, hypomyelinating, 11
- p.Cys146Arg Single submitter leukodystrophy, hypomyelinating, 11
- p.Gln139fs Single submitter
- p.Glu134Ter Single submitter
- p.Glu324Lys Single submitter leukodystrophy, hypomyelinating, 11
- p.Leu198fs Single submitter
- p.Lys154fs Single submitter leukodystrophy, hypomyelinating, 11
- p.Lys327Ter Single submitter Treacher Collins syndrome 3
- p.Val168Met Single submitter leukodystrophy, hypomyelinating, 11
- p.Val94Ala Single submitter leukodystrophy, hypomyelinating, 11
- c.922+3_922+6del No assertion criteria Treacher Collins syndrome 3
- p.Gly205fs No assertion criteria leukodystrophy, hypomyelinating, 11
- p.Gly31fs No assertion criteria Treacher Collins syndrome 3
Pathogenic/Likely pathogenic 12
- c.70-1G>A Multiple submitters leukodystrophy, hypomyelinating, 11
- p.Ala70fs Multiple submitters leukodystrophy, hypomyelinating, 11
- p.Arg109Cys Multiple submitters leukodystrophy, hypomyelinating, 11
- p.Arg109His Multiple submitters POLR1C-related disorder
- p.Arg279Gln Multiple submitters leukodystrophy, hypomyelinating, 11
- p.Arg279Trp Multiple submitters Treacher Collins syndrome 3
- p.Arg78Ter Multiple submitters Treacher Collins syndrome 3
- p.Ile105Phe Multiple submitters leukodystrophy, hypomyelinating, 11 ⚠
- p.Ile262Thr Multiple submitters leukodystrophy, hypomyelinating, 11
- p.Pro30Ser Multiple submitters POLR1C-related disorder
- p.Thr174_Trp175insTer Multiple submitters Treacher Collins syndrome 3
- p.Tyr306fs Multiple submitters leukodystrophy, hypomyelinating, 11
Likely pathogenic 15
- c.70-2A>G Multiple submitters leukodystrophy, hypomyelinating, 11
- p.Gln265Ter Multiple submitters Treacher Collins syndrome 3
- c.250-8_253delinsA Single submitter leukodystrophy, hypomyelinating, 11
- c.383-2A>G Single submitter leukodystrophy, hypomyelinating, 11
- p.Ala82fs Single submitter leukodystrophy, hypomyelinating, 11
- p.Arg141fs Single submitter leukodystrophy, hypomyelinating, 11
- p.Arg255fs Single submitter leukodystrophy, hypomyelinating, 11
- p.Glu266fs Single submitter leukodystrophy, hypomyelinating, 11
- p.Glu83Ter Single submitter leukodystrophy, hypomyelinating, 11
- p.Phe122Ile Single submitter Treacher Collins syndrome 3
- p.Ser232fs Single submitter leukodystrophy, hypomyelinating, 11
- p.Ser312Pro Single submitter leukodystrophy, hypomyelinating, 11
- p.Val315fs Single submitter leukodystrophy, hypomyelinating, 11
- p.Ala229fs No assertion criteria POLR1C-related disorder
- p.Cys146Ter No assertion criteria POLR1C-related disorder
Conflicting classifications of pathogenicity 27
- c.922+1G>C Single submitter leukodystrophy, hypomyelinating, 11
- c.922+2T>C Single submitter POLR1C-related disorder
- c.923-5C>T Single submitter Inborn genetic diseases
- c.-4G>A Single submitter Treacher Collins syndrome 3
- c.*30T>C Single submitter Treacher Collins syndrome 3
- p.Arg141Cys Single submitter leukodystrophy, hypomyelinating, 11 ⚠
- p.Arg191Gln Single submitter leukodystrophy, hypomyelinating, 11 ⚠
- p.Arg301Trp Single submitter Treacher Collins syndrome 3 ⚠
- p.Arg303Gln Single submitter leukodystrophy, hypomyelinating, 11
- p.Asn160= Single submitter Treacher Collins syndrome 3
- p.Asn74Ser Single submitter leukodystrophy, hypomyelinating, 11 ⚠
- p.Asp195= Single submitter Treacher Collins syndrome 3
- p.Asp195His Single submitter ⚠
- p.Asp69Tyr Single submitter leukodystrophy, hypomyelinating, 11 ⚠
- p.Glu187= Single submitter Treacher Collins syndrome 3
- p.Gly132Asp Single submitter Inborn genetic diseases ⚠
- p.His108Tyr Single submitter leukodystrophy, hypomyelinating, 11 ⚠
- p.Ile199Phe Single submitter leukodystrophy, hypomyelinating, 11 ⚠
- p.Leu178= Single submitter
- p.Leu184Val Single submitter Inborn genetic diseases ⚠
- p.Lys295del Single submitter Treacher Collins syndrome 3
- p.Met65Val Single submitter Treacher Collins syndrome 3 ⚠
- p.Phe257= Single submitter Treacher Collins syndrome 3
- p.Thr27Ala Single submitter leukodystrophy, hypomyelinating, 11 ⚠
- p.Thr313Met Single submitter leukodystrophy, hypomyelinating, 11 ⚠
- p.Tyr163= Single submitter Treacher Collins syndrome 3
- p.Val245Met Single submitter leukodystrophy, hypomyelinating, 11 ⚠
Benign 8
- c.656-9C>T Multiple submitters Treacher Collins syndrome 3
- p.Met212Val Multiple submitters Treacher Collins syndrome 3
- c.141+168C>T Single submitter
- c.250-81A>C Single submitter
- c.805+25del Single submitter
- p.Ala315Val No assertion criteria POLR1C-related disorder
- p.Gly342fs No assertion criteria POLR1C-related disorder
- p.Gly342Val No assertion criteria POLR1C-related disorder
Benign/Likely benign 1
- c.922+16T>C Multiple submitters
Likely benign 64
- c.142-13C>T Multiple submitters
- c.656-19G>A Multiple submitters
- c.656-20C>T Multiple submitters
- c.922+50C>T Multiple submitters
- c.923-26G>T Multiple submitters
- p.Arg234= Multiple submitters
- p.Ile190= Multiple submitters
- p.Ile68= Multiple submitters
- p.Thr170= Multiple submitters
- p.Val84= Multiple submitters
- c.250-9C>T Single submitter
- c.382+100T>C Single submitter
- c.382+11G>T Single submitter
- c.383-18C>T Single submitter
- c.383-20A>C Single submitter
- c.383-37G>A Single submitter
- c.502+17T>C Single submitter
- c.503-15A>C Single submitter
- c.503-7C>T Single submitter
- c.655+13del Single submitter
- c.655+14G>A Single submitter
- c.656-11T>C Single submitter
- c.70-12C>T Single submitter
- c.70-4C>G Single submitter
- c.70-4C>T Single submitter
- c.70-6C>T Single submitter POLR1C-related disorder
- c.70-9T>C Single submitter
- c.805+11T>A Single submitter
- c.805+20G>A Single submitter
- c.806-8C>T Single submitter
- c.923-8G>T Single submitter
- p.Ala152= Single submitter
- p.Ala182= Single submitter
- p.Ala300= Single submitter
- p.Ala342= Single submitter
- p.Ala71= Single submitter
- p.Ala73= Single submitter
- p.Arg13= Single submitter
- p.Arg335= Single submitter
- p.Asn277= Single submitter
- p.Asp129= Single submitter
- p.Asp238= Single submitter
- p.Asp28= Single submitter
- p.Cys333= Single submitter
- p.Glu251= Single submitter
- p.Glu311= Single submitter
- p.Gly314= Single submitter
- p.His116= Single submitter
- p.Ile199= Single submitter POLR1C-related disorder
- p.Ile239= Single submitter
- p.Leu316= Single submitter
- p.Lys224= Single submitter
- p.Pro114= Single submitter
- p.Pro244= Single submitter
- p.Pro30= Single submitter
- p.Ser254= Single submitter POLR1C-related disorder
- p.Ser60= Single submitter
- p.Ser99= Single submitter
- p.Thr174= Single submitter
- p.Thr282= Single submitter
- p.Thr313= Single submitter
- p.Tyr233= Single submitter
- p.Val267= Single submitter
- p.Arg301= No assertion criteria POLR1C-related disorder
Uncertain significance 116
- c.249+3A>G Multiple submitters Inborn genetic diseases
- p.Ala200Thr Multiple submitters Treacher Collins syndrome 3 ⚠
- p.Ala342Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala39Val Multiple submitters Treacher Collins syndrome 3 ⚠
- p.Arg120Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg125Gln Multiple submitters Treacher Collins syndrome 3 ⚠
- p.Arg148Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg203Gln Multiple submitters hearing loss disorder ⚠
- p.Arg203Trp Multiple submitters ⚠
- p.Arg22His Multiple submitters Inborn genetic diseases ⚠
- p.Arg335His Multiple submitters Inborn genetic diseases ⚠
- p.Asn59Lys Multiple submitters ⚠
- p.His213Gln Multiple submitters Treacher Collins syndrome 3 ⚠
- p.Ile239Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile68Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met56Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe288Ser Multiple submitters leukodystrophy, hypomyelinating, 11 ⚠
- p.Pro159Ala Multiple submitters ⚠
- p.Pro30Ala Multiple submitters leukodystrophy, hypomyelinating, 11 ⚠
- p.Thr282Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr98Ile Multiple submitters ⚠
- p.Tyr33Cys Multiple submitters leukodystrophy, hypomyelinating, 11 ⚠
- p.Val164Met Multiple submitters Treacher Collins syndrome 3 ⚠
- p.Val343Asp Multiple submitters Inborn genetic diseases ⚠
- c.70-7G>C Single submitter Treacher Collins syndrome 3
- c.806-3T>G Single submitter
- c.-8G>A Single submitter Treacher Collins syndrome 3
- c.*105G>C Single submitter Treacher Collins syndrome 3
- c.*166C>T Single submitter Treacher Collins syndrome 3
- p.Ala153del Single submitter
- p.Ala39Thr Single submitter Inborn genetic diseases ⚠
- p.Arg109Ser Single submitter leukodystrophy, hypomyelinating, 11 ⚠
- p.Arg11Gln Single submitter leukodystrophy, hypomyelinating, 11 ⚠
- p.Arg11Leu Single submitter
- p.Arg148Trp Single submitter Inborn genetic diseases ⚠
- p.Arg289Gln Single submitter Inborn genetic diseases ⚠
- p.Arg289Trp Single submitter leukodystrophy, hypomyelinating, 11 ⚠
- p.Arg301Gly Single submitter Inborn genetic diseases ⚠
- p.Arg334Gln Single submitter ⚠
- p.Arg334Trp Single submitter ⚠
- p.Arg335Cys Single submitter Inborn genetic diseases ⚠
- p.Arg50Cys Single submitter ⚠
- p.Arg50Leu Single submitter ⚠
- p.Arg78Gln Single submitter ⚠
- p.Asn160Ser Single submitter Inborn genetic diseases ⚠
- p.Asn277Ser Single submitter ⚠
- p.Asn96Ser Single submitter ⚠
- p.Asp183Glu Single submitter ⚠
- p.Asp196Gly Single submitter ⚠
- p.Asp221Tyr Single submitter ⚠
- p.Asp238Gly Single submitter
- p.Asp238His Single submitter ⚠
- p.Asp238Val Single submitter ⚠
- p.Asp304Gly Single submitter ⚠
- p.Asp338Asn Single submitter ⚠
- p.Asp37Gly Single submitter leukodystrophy, hypomyelinating, 11 ⚠
- p.Asp43Asn Single submitter Inborn genetic diseases ⚠
- p.Cys214Phe Single submitter Inborn genetic diseases ⚠
- p.Gln344Arg Single submitter ⚠
- p.Glu131del Single submitter
- p.Glu161Lys Single submitter ⚠
- p.Glu18Val Single submitter ⚠
- p.Glu207Ala Single submitter Inborn genetic diseases ⚠
- p.Glu252Lys Single submitter Inborn genetic diseases ⚠
- p.Glu263Lys Single submitter Inborn genetic diseases ⚠
- p.Glu266Lys Single submitter ⚠
- p.Glu291Asp Single submitter ⚠
- p.Gly179Glu Single submitter ⚠
- p.Gly314Val Single submitter leukodystrophy, hypomyelinating, 11 ⚠
- p.Gly31Ser Single submitter ⚠
- p.His151Leu Single submitter ⚠
- p.His213Arg Single submitter Inborn genetic diseases ⚠
- p.His25Arg Single submitter Inborn genetic diseases ⚠
- p.His305Asn Single submitter Treacher Collins syndrome 3 ⚠
- p.His55Arg Single submitter ⚠
- p.Ile135Leu Single submitter Inborn genetic diseases ⚠
- p.Ile190Val Single submitter Inborn genetic diseases ⚠
- p.Ile197= Single submitter
- p.Ile199Leu Single submitter Inborn genetic diseases ⚠
- p.Ile199Val Single submitter ⚠
- p.Ile208Val Single submitter Inborn genetic diseases ⚠
- p.Leu112Pro Single submitter ⚠
- p.Leu241Gln Single submitter Inborn genetic diseases ⚠
- p.Lys216Arg Single submitter ⚠
- p.Lys220Glu Single submitter ⚠
- p.Lys270Ile Single submitter Treacher Collins syndrome 3 ⚠
- p.Lys271Arg Single submitter ⚠
- p.Lys295Glu Single submitter leukodystrophy, hypomyelinating, 11 ⚠
- p.Lys332Gln Single submitter ⚠
- p.Phe288Leu Single submitter Inborn genetic diseases ⚠
- p.Pro177Ser Single submitter Inborn genetic diseases ⚠
- p.Pro192Leu Single submitter Inborn genetic diseases ⚠
- p.Pro244Ser Single submitter ⚠
- p.Pro318Ser Single submitter Inborn genetic diseases ⚠
- p.Ser157Cys Single submitter ⚠
- p.Ser226Leu Single submitter Inborn genetic diseases ⚠
- p.Ser284Asn Single submitter ⚠
- p.Ser309Ala Single submitter ⚠
- p.Ser323Thr Single submitter ⚠
- p.Ser60Leu Single submitter Inborn genetic diseases ⚠
- p.Thr133Ala Single submitter Inborn genetic diseases ⚠
- p.Thr189Ser Single submitter Inborn genetic diseases ⚠
- p.Thr230Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr163Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr169Cys Single submitter Inborn genetic diseases ⚠
- p.Val193Ala Single submitter Inborn genetic diseases ⚠
- p.Val24Ile Single submitter Treacher Collins syndrome 3 ⚠
- p.Val296Ile Single submitter Inborn genetic diseases ⚠
- p.Val310Ile Single submitter Inborn genetic diseases ⚠
- p.Val315Met Single submitter ⚠
- p.Val320Ala Single submitter ⚠
- p.Val322Leu Single submitter
- p.Val66Glu Single submitter ⚠
- p.Val66Gly Single submitter ⚠
- p.Ala314Pro No assertion criteria POLR1C-related disorder
- p.Lys294Asn No assertion criteria ⚠