HMBS — 712 ClinVar variants
All ClinVar germline HMBS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 226 flagged for review →
119 Pathogenic · 17 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 23 Conflicting · 23 Benign · 9 Benign/Likely benign · 229 Likely benign · 260 Uncertain significance
Full HMBS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 226
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
- HMBS p.Gly236Ser Likely pathogenic Single submitter
-
HMBS p.His256Asn
Pathogenic
No assertion criteria
acute intermittent porphyria
Predictors agree, ClinVar conflicts 14
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- HMBS p.Ala219Pro Conflicting Single submitter
- HMBS p.Ala219Thr Conflicting Single submitter
-
HMBS p.Ala9Glu
Conflicting
Single submitter
acute intermittent porphyria
-
HMBS p.Arg116Gln
Conflicting
Single submitter
acute intermittent porphyria
-
HMBS p.Arg201Trp
Conflicting
Single submitter
encephalopathy, porphyria-related
-
HMBS p.Arg22Cys
Conflicting
Single submitter
acute intermittent porphyria
- HMBS p.Arg246Cys Conflicting Single submitter
-
HMBS p.Arg321His
Conflicting
Single submitter
acute intermittent porphyria
-
HMBS p.Asp178Asn
Conflicting
Single submitter
acute intermittent porphyria
-
HMBS p.Glu223Lys
Conflicting
Single submitter
acute intermittent porphyria
-
HMBS p.Gly216Asp
Conflicting
Single submitter
HMBS-related disorders
- HMBS p.Gly280Glu Conflicting Single submitter
-
HMBS p.Pro309Ser
Conflicting
Single submitter
acute intermittent porphyria
- HMBS p.Thr10Met Conflicting Single submitter
Predicted LoF vs a conflicting call 3
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
HMBS c.499-1G>A
Conflicting
Single submitter
acute intermittent porphyria
-
HMBS p.Met1Val
Conflicting
Single submitter
acute intermittent porphyria
-
HMBS p.Ter362AsnextTer?
Conflicting
Single submitter
HMBS-related disorders
Predictors lean, ClinVar uncertain 139
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HMBS p.Ala185Thr Uncertain significance Multiple submitters
-
HMBS p.Ala297Ser
Uncertain significance
Multiple submitters
acute intermittent porphyria
-
HMBS p.Ala55Ser
Uncertain significance
Multiple submitters
acute intermittent porphyria
-
HMBS p.Arg195His
Uncertain significance
Multiple submitters
acute intermittent porphyria
-
HMBS p.Arg201Gln
Uncertain significance
Multiple submitters
HMBS-related disorder
-
HMBS p.Arg225Gln
Uncertain significance
Multiple submitters
acute intermittent porphyria
- HMBS p.Arg321Pro Uncertain significance Multiple submitters
-
HMBS p.Arg325Gln
Uncertain significance
Multiple submitters
acute intermittent porphyria
-
HMBS p.Arg355Trp
Uncertain significance
Multiple submitters
acute intermittent porphyria
- HMBS p.Asp240Asn Uncertain significance Multiple submitters
- HMBS p.Glu12Ala Uncertain significance Multiple submitters
-
HMBS p.Gly221Ser
Uncertain significance
Multiple submitters
acute intermittent porphyria
- HMBS p.Gly72Arg Uncertain significance Multiple submitters
-
HMBS p.Ile205Met
Uncertain significance
Multiple submitters
acute intermittent porphyria
- HMBS p.Ile231Thr Uncertain significance Multiple submitters
-
HMBS p.Ile248Val
Uncertain significance
Multiple submitters
acute intermittent porphyria
-
HMBS p.Ile54Leu
Uncertain significance
Multiple submitters
acute intermittent porphyria
- HMBS p.Leu285Arg Uncertain significance Multiple submitters
-
HMBS p.Thr190Ile
Uncertain significance
Multiple submitters
HMBS-related disorder
-
HMBS p.Trp198Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HMBS p.Val143Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HMBS p.Val202Leu
Uncertain significance
Multiple submitters
acute intermittent porphyria
- HMBS p.Val23Met Uncertain significance Multiple submitters
- HMBS p.Ala11Val Uncertain significance Single submitter
- HMBS p.Ala191Pro Uncertain significance Single submitter
- HMBS p.Ala191Val Uncertain significance Single submitter
- HMBS p.Ala226Thr Uncertain significance Single submitter
- HMBS p.Ala266Gly Uncertain significance Single submitter
- HMBS p.Ala270Pro Uncertain significance Single submitter
- HMBS p.Ala303Asp Uncertain significance Single submitter
- HMBS p.Ala303Val Uncertain significance Single submitter
- HMBS p.Ala347Asp Uncertain significance Single submitter
- HMBS p.Ala347Pro Uncertain significance Single submitter
- HMBS p.Ala40Thr Uncertain significance Single submitter
- HMBS p.Ala55Gly Uncertain significance Single submitter
- HMBS p.Ala7Val Uncertain significance Single submitter
- HMBS p.Ala84Val Uncertain significance Single submitter
-
HMBS p.Ala8Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- HMBS p.Ala8Val Uncertain significance Single submitter
- HMBS p.Ala9Thr Uncertain significance Single submitter
- HMBS p.Arg149Gly Uncertain significance Single submitter
- HMBS p.Arg156Lys Uncertain significance Single submitter
- HMBS p.Arg164Gly Uncertain significance Single submitter
- HMBS p.Arg167Gly Uncertain significance Single submitter
- HMBS p.Arg175Gln Uncertain significance Single submitter
- HMBS p.Arg251Ser Uncertain significance Single submitter
- HMBS p.Arg255Lys Uncertain significance Single submitter
- HMBS p.Arg321Cys Uncertain significance Single submitter
- HMBS p.Asn200Lys Uncertain significance Single submitter
-
HMBS p.Asn322Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- HMBS p.Asp121Val Uncertain significance Single submitter
- HMBS p.Asp228Gly Uncertain significance Single submitter
-
HMBS p.Asp273Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- HMBS p.Asp307Asn Uncertain significance Single submitter
- HMBS p.Asp352Asn Uncertain significance Single submitter
- HMBS p.Asp359Glu Uncertain significance Single submitter
- HMBS p.Asp65His Uncertain significance Single submitter
- HMBS p.Cys114Arg Uncertain significance Single submitter
- HMBS p.Cys247Trp Uncertain significance Single submitter
-
HMBS p.Gln180Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- HMBS p.Gln181Arg Uncertain significance Single submitter
- HMBS p.Gln328Arg Uncertain significance Single submitter
- HMBS p.Gln50Arg Uncertain significance Single submitter
- HMBS p.Glu117Lys Uncertain significance Single submitter
- HMBS p.Glu117Val Uncertain significance Single submitter
- HMBS p.Glu135Gly Uncertain significance Single submitter
- HMBS p.Glu13Gly Uncertain significance Single submitter
- HMBS p.Glu223Gly Uncertain significance Single submitter
- HMBS p.Glu258Ala Uncertain significance Single submitter
- HMBS p.Glu310Gln Uncertain significance Single submitter
- HMBS p.Glu82Asp Uncertain significance Single submitter
- HMBS p.Gly216Ala Uncertain significance Single submitter
- HMBS p.Gly216Ser Uncertain significance Single submitter
- HMBS p.Gly221Arg Uncertain significance Single submitter
- HMBS p.Gly221Asp Uncertain significance Single submitter
- HMBS p.Gly24Val Uncertain significance Single submitter
- HMBS p.Gly287Ser Uncertain significance Single submitter
-
HMBS p.Gly308Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- HMBS p.Gly326Glu Uncertain significance Single submitter
- HMBS p.Gly335Val Uncertain significance Single submitter
-
HMBS p.Gly5Ser
Uncertain significance
Single submitter
acute intermittent porphyria
- HMBS p.His120Asn Uncertain significance Single submitter
- HMBS p.His120Tyr Uncertain significance Single submitter
- HMBS p.His199Arg Uncertain significance Single submitter
- HMBS p.His199Gln Uncertain significance Single submitter
- HMBS p.His256Arg Uncertain significance Single submitter
- HMBS p.His256Gln Uncertain significance Single submitter
- HMBS p.His83Arg Uncertain significance Single submitter
- HMBS p.Ile231Val Uncertain significance Single submitter
- HMBS p.Ile291Thr Uncertain significance Single submitter
- HMBS p.Ile54Phe Uncertain significance Single submitter
- HMBS p.Leu134Pro Uncertain significance Single submitter
- HMBS p.Leu148Arg Uncertain significance Single submitter
- HMBS p.Leu154Pro Uncertain significance Single submitter
- HMBS p.Leu170His Uncertain significance Single submitter
- HMBS p.Leu170Pro Uncertain significance Single submitter
- HMBS p.Leu174Phe Uncertain significance Single submitter
- HMBS p.Leu315Ser Uncertain significance Single submitter
- HMBS p.Leu81Phe Uncertain significance Single submitter
- HMBS p.Lys132Asn Uncertain significance Single submitter
- HMBS p.Lys140Arg Uncertain significance Single submitter
- HMBS p.Lys227Glu Uncertain significance Single submitter
- HMBS p.Lys348Arg Uncertain significance Single submitter
- HMBS p.Lys62Glu Uncertain significance Single submitter
- HMBS p.Met196Ile Uncertain significance Single submitter
- HMBS p.Met196Val Uncertain significance Single submitter
- HMBS p.Met271Leu Uncertain significance Single submitter
- HMBS p.Met295Val Uncertain significance Single submitter
- HMBS p.Met56Thr Uncertain significance Single submitter
- HMBS p.Phe163Leu Uncertain significance Single submitter
- HMBS p.Phe51Leu Uncertain significance Single submitter
- HMBS p.Pro105Ser Uncertain significance Single submitter
- HMBS p.Pro159Leu Uncertain significance Single submitter
- HMBS p.Pro327Leu Uncertain significance Single submitter
- HMBS p.Ser141Arg Uncertain significance Single submitter
- HMBS p.Ser141Asn Uncertain significance Single submitter
- HMBS p.Ser262Arg Uncertain significance Single submitter
- HMBS p.Ser2Pro Uncertain significance Single submitter
- HMBS p.Ser337Thr Uncertain significance Single submitter
- HMBS p.Ser344Asn Uncertain significance Single submitter
- HMBS p.Ser37Asn Uncertain significance Single submitter
-
HMBS p.Ser57Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- HMBS p.Ser75Asn Uncertain significance Single submitter
- HMBS p.Ser96Tyr Uncertain significance Single submitter
-
HMBS p.Thr145Ser
Uncertain significance
Single submitter
acute intermittent porphyria
- HMBS p.Thr172Pro Uncertain significance Single submitter
- HMBS p.Thr25Ile Uncertain significance Single submitter
- HMBS p.Thr269Ile Uncertain significance Single submitter
- HMBS p.Thr59Ile Uncertain significance Single submitter
-
HMBS p.Thr78Ser
Uncertain significance
Single submitter
acute intermittent porphyria
- HMBS p.Trp283Cys Uncertain significance Single submitter
- HMBS p.Val123Ile Uncertain significance Single submitter
- HMBS p.Val215Leu Uncertain significance Single submitter
- HMBS p.Val222Met Uncertain significance Single submitter
- HMBS p.Val23Leu Uncertain significance Single submitter
- HMBS p.Val265Ala Uncertain significance Single submitter
- HMBS p.Val282Leu Uncertain significance Single submitter
- HMBS p.Val301Ile Uncertain significance Single submitter
- HMBS p.Val353Ile Uncertain significance Single submitter
Predictors split 68
The independent predictors disagree with each other — read with care.
-
HMBS p.Ala219Ser
Uncertain significance
Multiple submitters
acute intermittent porphyria
- HMBS p.Ala249Thr Uncertain significance Multiple submitters
-
HMBS p.Ala252Thr
Uncertain significance
Multiple submitters
acute intermittent porphyria
-
HMBS p.Ala331Val
Pathogenic/Likely pathogenic
Multiple submitters
acute intermittent porphyria
-
HMBS p.Arg22His
Uncertain significance
Multiple submitters
acute intermittent porphyria
-
HMBS p.Arg246His
Uncertain significance
Multiple submitters
acute intermittent porphyria
- HMBS p.Arg32Cys Uncertain significance Multiple submitters
-
HMBS p.Asp359Asn
Benign/Likely benign
Multiple submitters
acute intermittent porphyria
- HMBS p.Glu179Lys Uncertain significance Multiple submitters
- HMBS p.Glu209Lys Uncertain significance Multiple submitters
-
HMBS p.Glu242Lys
Uncertain significance
Multiple submitters
acute intermittent porphyria
-
HMBS p.Glu258Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- HMBS p.Ile299Thr Uncertain significance Multiple submitters
-
HMBS p.Met295Ile
Uncertain significance
Multiple submitters
acute intermittent porphyria
- HMBS p.Met56Val Uncertain significance Multiple submitters
- HMBS p.Pro127Ala Uncertain significance Multiple submitters
-
HMBS p.Pro127Gln
Likely benign
Multiple submitters
Inborn genetic diseases
- HMBS p.Val267Met Pathogenic/Likely pathogenic Multiple submitters
- HMBS p.Ala112Gly Uncertain significance Single submitter
- HMBS p.Ala226Val Uncertain significance Single submitter
- HMBS p.Ala320Val Uncertain significance Single submitter
- HMBS p.Arg175Trp Uncertain significance Single submitter
- HMBS p.Arg19Thr Uncertain significance Single submitter
- HMBS p.Arg32His Uncertain significance Single submitter
- HMBS p.Arg32Leu Uncertain significance Single submitter
- HMBS p.Arg355Gln Uncertain significance Single submitter
- HMBS p.Asn171Ser Uncertain significance Single submitter
- HMBS p.Asn200Tyr Uncertain significance Single submitter
-
HMBS p.Asp228Ala
Uncertain significance
Single submitter
encephalopathy, porphyria-related
- HMBS p.Asp230Gly Uncertain significance Single submitter
- HMBS p.Asp230Tyr Uncertain significance Single submitter
- HMBS p.Asp289Ala Uncertain significance Single submitter
- HMBS p.Cys211Ser Uncertain significance Single submitter
- HMBS p.Gln29Arg Uncertain significance Single submitter
- HMBS p.Gln304His Uncertain significance Single submitter
-
HMBS p.Gln50Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- HMBS p.Glu162Gly Uncertain significance Single submitter
- HMBS p.Glu209Ala Uncertain significance Single submitter
- HMBS p.Glu258Gly Uncertain significance Single submitter
-
HMBS p.Glu86Val
Conflicting
Single submitter
acute intermittent porphyria
- HMBS p.His239Tyr Uncertain significance Single submitter
-
HMBS p.His268Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- HMBS p.Ile110Val Uncertain significance Single submitter
- HMBS p.Ile186Met Uncertain significance Single submitter
- HMBS p.Ile21Phe Uncertain significance Single submitter
-
HMBS p.Ile323Thr
Uncertain significance
Single submitter
hereditary ataxia
- HMBS p.Leu232Val Uncertain significance Single submitter
- HMBS p.Leu42Met Uncertain significance Single submitter
- HMBS p.Lys227Thr Uncertain significance Single submitter
-
HMBS p.Lys272Thr
Uncertain significance
Single submitter
acute intermittent porphyria
- HMBS p.Lys70Arg Uncertain significance Single submitter
- HMBS p.Met212Ile Uncertain significance Single submitter
- HMBS p.Met295Thr Uncertain significance Single submitter
- HMBS p.Pro138Ser Uncertain significance Single submitter
- HMBS p.Pro138Thr Uncertain significance Single submitter
- HMBS p.Pro309Arg Uncertain significance Single submitter
- HMBS p.Ser184Asn Uncertain significance Single submitter
- HMBS p.Ser284Asn Uncertain significance Single submitter
- HMBS p.Ser337Cys Uncertain significance Single submitter
-
HMBS p.Thr243Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- HMBS p.Thr78Ala Uncertain significance Single submitter
- HMBS p.Tyr277His Uncertain significance Single submitter
-
HMBS p.Val224Ala
Uncertain significance
Single submitter
anxiety
- HMBS p.Val235Met Uncertain significance Single submitter
- HMBS p.Val263Ala Uncertain significance Single submitter
- HMBS p.Val263Leu Uncertain significance Single submitter
- HMBS p.Val316Ala Uncertain significance Single submitter
- HMBS p.Val90Ala Uncertain significance Single submitter
All HMBS variants
Pathogenic 119
- c.345-1G>A Multiple submitters acute intermittent porphyria
- c.613-1G>A Multiple submitters HMBS-related disorders
- c.912+2T>C Multiple submitters HMBS-related disorders
- c.913-1G>A Multiple submitters acute intermittent porphyria
- c.913-2A>G Multiple submitters HMBS-related disorders
- p.Arg149Ter Multiple submitters HMBS-related disorders
- p.Arg167Trp Multiple submitters HMBS-related disorders
- p.Arg173Gln Multiple submitters HMBS-related disorders
- p.Arg225Ter Multiple submitters acute intermittent porphyria
- p.Arg26His Multiple submitters HMBS-related disorders
- p.Arg325Ter Multiple submitters acute intermittent porphyria
- p.Gln204His Multiple submitters acute intermittent porphyria
- p.Gln50Ter Multiple submitters
- p.Trp283Ter Multiple submitters acute intermittent porphyria
- c.160_160+1del Single submitter acute intermittent porphyria
- c.160+1G>T Single submitter
- c.161-1G>C Single submitter
- c.210+1G>C Single submitter acute intermittent porphyria
- c.211-1G>T Single submitter acute intermittent porphyria
- c.266+1G>A Single submitter
- c.33+1G>A Single submitter porphyria, acute intermittent, nonerythroid variant
- c.33+1G>C Single submitter acute intermittent porphyria
- c.33+1G>T Single submitter porphyria, acute intermittent, nonerythroid variant
- c.33+2T>A Single submitter
- c.33+2T>G Single submitter
- c.344+2T>C Single submitter
- c.423-1G>A Single submitter
- c.498+1G>A Single submitter
- c.499-2A>T Single submitter
- c.612+1G>A Single submitter
- c.613-1G>T Single submitter
- c.651+244del Single submitter
- c.651+2T>C Single submitter
- c.652-1G>A Single submitter
- c.652-1G>C Single submitter
- c.652-2del Single submitter
- c.771+2T>C Single submitter
- c.772-2A>G Single submitter acute intermittent porphyria
- c.825+1G>A Single submitter
- c.826-1G>A Single submitter
- c.826-1G>T Single submitter
- c.87+1G>A Single submitter
- c.87+2T>G Single submitter
- c.88-1G>A Single submitter
- c.88-2A>G Single submitter
- c.9_33+11del Single submitter acute intermittent porphyria
- c.912+1G>A Single submitter
- c.912+1G>T Single submitter
- p.Ala189fs Single submitter
- p.Ala297fs Single submitter
- p.Ala360fs Single submitter acute intermittent porphyria
- p.Arg164delinsSerTer Single submitter
- p.Arg173Pro Single submitter acute intermittent porphyria
- p.Arg195Cys Single submitter acute intermittent porphyria
- p.Arg19fs Single submitter
- p.Arg201fs Single submitter
- p.Arg26Leu Single submitter
- p.Asn118fs Single submitter
- p.Asn171fs Single submitter
- p.Asn322Ter Single submitter
- p.Asp240fs Single submitter
- p.Asp240Gly Single submitter
- p.Gln153Ter Single submitter
- p.Gln180Ter Single submitter
- p.Gln314Ter Single submitter
- p.Gln328fs Single submitter
- p.Glu182fs Single submitter
- p.Glu223_Leu232del Single submitter acute intermittent porphyria
- p.Glu242fs Single submitter
- p.Glu250fs Single submitter
- p.Glu258fs Single submitter
- p.Glu82fs Single submitter
- p.Gly216Val Single submitter
- p.Gly218Glu Single submitter
- p.Gly24fs Single submitter
- p.Gly48fs Single submitter
- p.His239fs Single submitter
- p.His95fs Single submitter
- p.Leu177Arg Single submitter acute intermittent porphyria
- p.Leu188fs Single submitter
- p.Leu238Pro Single submitter
- p.Leu244fs Single submitter acute intermittent porphyria
- p.Leu341fs Single submitter
- p.Leu42Ser Single submitter
- p.Lys128Ter Single submitter
- p.Met212fs Single submitter
- p.Met56fs Single submitter
- p.Phe108fs Single submitter
- p.Phe253_Leu254insTer Single submitter acute intermittent porphyria
- p.Pro106fs Single submitter
- p.Pro208fs Single submitter
- p.Ser290delinsArgTer Single submitter
- p.Ser75fs Single submitter acute intermittent porphyria
- p.Thr133_Leu134insTer Single submitter Fever
- p.Thr25_Arg26del Single submitter
- p.Thr294fs Single submitter
- c.211-1G>A No assertion criteria acute intermittent porphyria
- c.266+1G>C No assertion criteria acute intermittent porphyria
- c.771+1G>C No assertion criteria acute intermittent porphyria
- c.912+1G>C No assertion criteria acute intermittent porphyria
- p.Ala252Val No assertion criteria acute intermittent porphyria
- p.Ala31Thr No assertion criteria acute intermittent porphyria
- p.Ala84Asp No assertion criteria leukoencephalopathy, porphyria-related
- p.Arg149Gln No assertion criteria acute intermittent porphyria
- p.Arg167Leu No assertion criteria acute intermittent porphyria
- p.Asn14fs No assertion criteria porphyria, acute intermittent, nonerythroid variant
- p.Asp61fs No assertion criteria acute intermittent porphyria
- p.Gln155Ter No assertion criteria acute intermittent porphyria
- p.Gln34Lys No assertion criteria acute intermittent porphyria
- p.Glu179fs No assertion criteria Abnormal circulating porphyrin concentration
- p.Glu250Lys No assertion criteria acute intermittent porphyria
- p.His256Asn No assertion criteria acute intermittent porphyria ⚠
- p.His300fs No assertion criteria acute intermittent porphyria
- p.Ile248fs No assertion criteria acute intermittent porphyria
- p.Leu245Arg No assertion criteria acute intermittent porphyria
- p.Leu81Pro No assertion criteria encephalopathy, porphyria-related
- p.Thr59fs No assertion criteria acute intermittent porphyria
- p.Trp198Ter No assertion criteria acute intermittent porphyria
- p.Trp283fs No assertion criteria acute intermittent porphyria
Pathogenic/Likely pathogenic 17
- c.160+5G>C Multiple submitters acute intermittent porphyria
- c.826-2A>T Multiple submitters acute intermittent porphyria
- c.913-1G>C Multiple submitters
- p.Ala331Val Multiple submitters acute intermittent porphyria ⚠
- p.Arg116Trp Multiple submitters acute intermittent porphyria
- p.Arg167Gln Multiple submitters encephalopathy, porphyria-related
- p.Arg167Pro Multiple submitters acute intermittent porphyria
- p.Arg173Trp Multiple submitters acute intermittent porphyria
- p.Arg26Cys Multiple submitters acute intermittent porphyria
- p.Asp289fs Multiple submitters
- p.Cys247Arg Multiple submitters HMBS-related disorders
- p.Gln292Ter Multiple submitters acute intermittent porphyria
- p.Gln314fs Multiple submitters acute intermittent porphyria
- p.Gly111Arg Multiple submitters HMBS-related disorders
- p.Lys70Ter Multiple submitters
- p.Val215Met Multiple submitters acute intermittent porphyria
- p.Val267Met Multiple submitters ⚠
Likely pathogenic 32
- p.Ala252Pro Multiple submitters
- p.Gly24Asp Multiple submitters
- p.Lys272fs Multiple submitters acute intermittent porphyria
- p.Thr35Met Multiple submitters HMBS-related disorders
- c.161-3C>G Single submitter
- c.210_210+5delinsT Single submitter
- c.33+5G>A Single submitter HMBS-related disorders
- c.605_612+7del Single submitter
- c.651+1G>C Single submitter
- c.772-10_772-8del Single submitter
- c.826-2A>G Single submitter
- c.87+2_87+4del Single submitter
- p.Ala122Pro Single submitter acute intermittent porphyria
- p.Arg26Pro Single submitter
- p.Asp61Tyr Single submitter acute intermittent porphyria
- p.Asp99Asn Single submitter
- p.Gln181Ter Single submitter
- p.Gln204fs Single submitter acute intermittent porphyria
- p.Gln29fs Single submitter
- p.Glu80Gly Single submitter
- p.Gly216fs Single submitter
- p.Gly236Ser Single submitter ⚠
- p.Gly281del Single submitter
- p.Leu100Pro Single submitter
- p.Leu343Pro Single submitter
- p.Leu92Pro Single submitter acute intermittent porphyria
- p.Lys98Glu Single submitter
- p.Pro138Leu Single submitter acute intermittent porphyria
- p.Thr298fs Single submitter acute intermittent porphyria
- p.Val215Glu Single submitter
- p.Ala320fs No assertion criteria Elevated urinary delta-aminolevulinic acid
- p.Gln194Ter No assertion criteria acute intermittent porphyria
Conflicting classifications of pathogenicity 23
- c.266+4A>T Single submitter acute intermittent porphyria
- c.345-9C>T Single submitter acute intermittent porphyria
- c.499-1G>A Single submitter acute intermittent porphyria ⚠
- c.612+4G>A Single submitter acute intermittent porphyria
- c.-28A>C Single submitter acute intermittent porphyria
- p.Ala219Pro Single submitter ⚠
- p.Ala219Thr Single submitter ⚠
- p.Ala266= Single submitter acute intermittent porphyria
- p.Ala9Glu Single submitter acute intermittent porphyria ⚠
- p.Arg116Gln Single submitter acute intermittent porphyria ⚠
- p.Arg201Trp Single submitter encephalopathy, porphyria-related ⚠
- p.Arg22Cys Single submitter acute intermittent porphyria ⚠
- p.Arg246Cys Single submitter ⚠
- p.Arg321His Single submitter acute intermittent porphyria ⚠
- p.Asp178Asn Single submitter acute intermittent porphyria ⚠
- p.Glu223Lys Single submitter acute intermittent porphyria ⚠
- p.Glu86Val Single submitter acute intermittent porphyria ⚠
- p.Gly216Asp Single submitter HMBS-related disorders ⚠
- p.Gly280Glu Single submitter ⚠
- p.Met1Val Single submitter acute intermittent porphyria ⚠
- p.Pro309Ser Single submitter acute intermittent porphyria ⚠
- p.Ter362AsnextTer? Single submitter HMBS-related disorders ⚠
- p.Thr10Met Single submitter ⚠
Benign 23
- c.161-60C>T Multiple submitters
- c.34-96G>T Multiple submitters
- c.498+99T>C Multiple submitters
- c.613-19C>A Multiple submitters acute intermittent porphyria
- c.613-31A>G Multiple submitters
- c.771+58C>T Multiple submitters
- c.88-14G>A Multiple submitters acute intermittent porphyria
- c.88-65T>C Multiple submitters
- c.912+19G>A Multiple submitters
- c.-235T>A Multiple submitters
- c.-65C>T Multiple submitters acute intermittent porphyria
- p.Pro101= Multiple submitters acute intermittent porphyria
- c.211-15C>T Single submitter
- c.267-17C>T Single submitter
- c.267-56_267-49del Single submitter
- c.33+20C>G Single submitter
- c.498+256T>C Single submitter
- c.772-17A>G Single submitter
- c.825+12dup Single submitter
- c.826-3del Single submitter
- c.-103C>T Single submitter
- p.Ala44= Single submitter
- p.Arg22= Single submitter
Benign/Likely benign 9
- c.210+5C>A Multiple submitters acute intermittent porphyria
- p.Asn340= Multiple submitters acute intermittent porphyria
- p.Asp359Asn Multiple submitters acute intermittent porphyria ⚠
- p.His239= Multiple submitters acute intermittent porphyria
- p.Ile110= Multiple submitters
- p.Pro241= Multiple submitters acute intermittent porphyria
- p.Ser45= Multiple submitters acute intermittent porphyria
- p.Ser45Leu Multiple submitters acute intermittent porphyria
- p.Val202= Multiple submitters acute intermittent porphyria
Likely benign 229
- c.33+15G>A Multiple submitters
- c.33+18G>A Multiple submitters
- c.612+11C>T Multiple submitters
- c.825+17G>T Multiple submitters
- p.Asp178= Multiple submitters Inborn genetic diseases
- p.Gly203= Multiple submitters
- p.Leu342= Multiple submitters acute intermittent porphyria
- p.Pro127Gln Multiple submitters Inborn genetic diseases ⚠
- p.Pro159= Multiple submitters
- p.Pro309= Multiple submitters
- p.Thr25= Multiple submitters
- p.Thr294= Multiple submitters
- c.160+11T>C Single submitter
- c.160+16A>G Single submitter
- c.160+16del Single submitter
- c.160+17G>A Single submitter
- c.160+20G>C Single submitter
- c.161-14_161-11del Single submitter
- c.161-16_161-13del Single submitter
- c.161-20T>A Single submitter
- c.161-4T>G Single submitter
- c.161-6C>T Single submitter
- c.210+9A>T Single submitter
- c.211-19G>A Single submitter
- c.211-4del Single submitter
- c.211-6C>T Single submitter
- c.266+15G>A Single submitter
- c.266+17G>A Single submitter
- c.267-10A>G Single submitter
- c.267-11C>T Single submitter
- c.267-15C>T Single submitter
- c.267-16del Single submitter
- c.267-17C>A Single submitter
- c.267-17C>G Single submitter
- c.267-18C>A Single submitter
- c.267-18C>T Single submitter
- c.267-8C>T Single submitter
- c.33+10G>C Single submitter
- c.33+123_33+135del Single submitter
- c.33+13C>A Single submitter
- c.33+665C>T Single submitter
- c.33+8C>G Single submitter
- c.33+9T>C Single submitter
- c.34-15G>T Single submitter
- c.34-16G>A Single submitter
- c.34-34A>G Single submitter
- c.344+11T>A Single submitter
- c.344+20G>C Single submitter
- c.344+33G>T Single submitter
- c.345-10C>T Single submitter
- c.345-11_345-8dup Single submitter
- c.345-11T>G Single submitter
- c.345-14C>T Single submitter
- c.345-16T>C Single submitter
- c.345-18C>T Single submitter
- c.345-5C>A Single submitter
- c.345-6C>A Single submitter
- c.345-6C>T Single submitter
- c.345-7C>G Single submitter
- c.422+13T>C Single submitter
- c.422+16A>G Single submitter
- c.422+8G>A Single submitter
- c.423-10C>T Single submitter
- c.423-14T>C Single submitter
- c.423-15C>A Single submitter
- c.423-18T>C Single submitter
- c.423-19G>T Single submitter
- c.423-20T>C Single submitter
- c.423-8C>T Single submitter
- c.498+15G>C Single submitter
- c.498+15G>T Single submitter
- c.498+22G>A Single submitter
- c.499-13C>T Single submitter
- c.499-8C>G Single submitter
- c.612+11C>G Single submitter
- c.612+13C>A Single submitter
- c.612+13C>T Single submitter
- c.612+14C>G Single submitter
- c.612+15del Single submitter
- c.612+15T>A Single submitter
- c.612+16A>G Single submitter
- c.612+19C>G Single submitter
- c.612+19C>T Single submitter
- c.612+8C>T Single submitter
- c.613-10G>A Single submitter
- c.613-10G>T Single submitter
- c.613-11C>T Single submitter
- c.613-13T>C Single submitter
- c.613-19C>T Single submitter
- c.613-31_613-30inv Single submitter
- c.613-6C>T Single submitter
- c.613-9C>T Single submitter
- c.651+10A>G Single submitter
- c.651+13A>G Single submitter
- c.651+15_651+22del Single submitter
- c.651+15G>T Single submitter
- c.651+16G>A Single submitter
- c.651+18A>G Single submitter
- c.651+19G>A Single submitter
- c.651+20C>T Single submitter
- c.651+9G>A Single submitter
- c.652-12T>C Single submitter
- c.652-13G>A Single submitter
- c.652-5A>G Single submitter
- c.771+13C>A Single submitter
- c.771+13C>T Single submitter
- c.771+14T>C Single submitter
- c.771+15C>T Single submitter
- c.772-12T>G Single submitter
- c.772-16del Single submitter
- c.772-4A>G Single submitter
- c.772-7G>C Single submitter
- c.825+11G>A Single submitter
- c.825+11G>T Single submitter
- c.825+12G>T Single submitter
- c.825+15del Single submitter
- c.825+18G>A Single submitter
- c.825+19G>A Single submitter
- c.825+20C>T Single submitter
- c.825+21G>A Single submitter
- c.825+7G>T Single submitter
- c.825+8G>A Single submitter
- c.826-14G>A Single submitter
- c.826-14G>C Single submitter
- c.826-18A>G Single submitter
- c.826-20G>A Single submitter
- c.826-20G>T Single submitter
- c.826-6C>T Single submitter
- c.87+10G>A Single submitter
- c.87+13G>T Single submitter
- c.87+14C>T Single submitter
- c.87+15C>T Single submitter
- c.87+16G>A Single submitter
- c.88-23C>T Single submitter
- c.88-4G>A Single submitter
- c.88-5C>T Single submitter
- c.88-7C>T Single submitter
- c.88-9T>C Single submitter
- c.912+12G>A Single submitter
- c.912+17G>A Single submitter
- c.912+18C>A Single submitter
- c.912+18C>T Single submitter
- c.912+7A>T Single submitter
- c.913-11C>T Single submitter
- c.913-16T>C Single submitter
- c.913-18C>T Single submitter
- c.913-8T>G Single submitter
- c.*7T>C Single submitter
- p.Ala11Thr Single submitter
- p.Ala191= Single submitter
- p.Ala226= Single submitter
- p.Ala331= Single submitter
- p.Ala347= Single submitter
- p.Ala354= Single submitter
- p.Ala67= Single submitter
- p.Ala7= Single submitter
- p.Ala9= Single submitter
- p.Arg116= Single submitter
- p.Arg164= Single submitter
- p.Arg175= Single submitter
- p.Asn14= Single submitter
- p.Asn358= Single submitter
- p.Asp230= Single submitter
- p.Asp240= Single submitter
- p.Asp286= Single submitter
- p.Asp312= Single submitter
- p.Asp36= Single submitter
- p.Asp65= Single submitter
- p.Glu162= Single submitter
- p.Glu242= Single submitter
- p.Glu82= Single submitter
- p.Glu86= Single submitter
- p.Gly218= Single submitter
- p.Gly221= Single submitter
- p.Gly24= Single submitter
- p.Gly308= Single submitter
- p.Gly317= Single submitter
- p.Gly326= Single submitter
- p.Gly335= Single submitter
- p.Gly60= Single submitter
- p.His160= Single submitter
- p.His305= Single submitter
- p.His361= Single submitter
- p.His95= Single submitter
- p.Ile187= Single submitter
- p.Ile205= Single submitter
- p.Ile248= Single submitter
- p.Ile323= Single submitter
- p.Leu104= Single submitter
- p.Leu137= Single submitter
- p.Leu148= Single submitter
- p.Leu154= Single submitter
- p.Leu161= Single submitter
- p.Leu177= Single submitter
- p.Leu193= Single submitter
- p.Leu206= Single submitter
- p.Leu220= Single submitter
- p.Leu254= Single submitter
- p.Leu315= Single submitter
- p.Leu338= Single submitter
- p.Leu351= Single submitter
- p.Leu42= Single submitter
- p.Leu49= Single submitter
- p.Leu76= Single submitter
- p.Leu85= Single submitter
- p.Leu97= Single submitter
- p.Lys272= Single submitter
- p.Lys79= Single submitter
- p.Phe158= Single submitter
- p.Pro119= Single submitter
- p.Pro138= Single submitter
- p.Pro208= Single submitter
- p.Pro324= Single submitter
- p.Ser28= Single submitter
- p.Ser284= Single submitter
- p.Ser288= Single submitter
- p.Ser69= Single submitter
- p.Ter362= Single submitter
- p.Thr10= Single submitter
- p.Thr145= Single submitter
- p.Thr190= Single submitter
- p.Thr298= Single submitter
- p.Thr41= Single submitter
- p.Tyr277= Single submitter
- p.Val130= Single submitter
- p.Val143= Single submitter
- p.Val20= Single submitter
- p.Val90= Single submitter
- c.34-25T>C No assertion criteria HMBS-related disorder
Uncertain significance 260
- c.211-5G>A Multiple submitters
- c.267-3_267-2del Multiple submitters
- c.499-17T>G Multiple submitters Inborn genetic diseases
- c.825+3_825+6del Multiple submitters
- p.Ala185Thr Multiple submitters ⚠
- p.Ala219Ser Multiple submitters acute intermittent porphyria ⚠
- p.Ala249Thr Multiple submitters ⚠
- p.Ala252Thr Multiple submitters acute intermittent porphyria ⚠
- p.Ala297Ser Multiple submitters acute intermittent porphyria ⚠
- p.Ala55Ser Multiple submitters acute intermittent porphyria ⚠
- p.Arg164Ser Multiple submitters
- p.Arg195His Multiple submitters acute intermittent porphyria ⚠
- p.Arg201Gln Multiple submitters HMBS-related disorder ⚠
- p.Arg225Gln Multiple submitters acute intermittent porphyria ⚠
- p.Arg22His Multiple submitters acute intermittent porphyria ⚠
- p.Arg246His Multiple submitters acute intermittent porphyria ⚠
- p.Arg321Pro Multiple submitters ⚠
- p.Arg325Gln Multiple submitters acute intermittent porphyria ⚠
- p.Arg32Cys Multiple submitters ⚠
- p.Arg355Trp Multiple submitters acute intermittent porphyria ⚠
- p.Asp240Asn Multiple submitters ⚠
- p.Glu12Ala Multiple submitters ⚠
- p.Glu179Lys Multiple submitters ⚠
- p.Glu209Lys Multiple submitters ⚠
- p.Glu242Lys Multiple submitters acute intermittent porphyria ⚠
- p.Glu258Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly221Ser Multiple submitters acute intermittent porphyria ⚠
- p.Gly72Arg Multiple submitters ⚠
- p.Ile205Met Multiple submitters acute intermittent porphyria ⚠
- p.Ile231Thr Multiple submitters ⚠
- p.Ile248Val Multiple submitters acute intermittent porphyria ⚠
- p.Ile299Thr Multiple submitters ⚠
- p.Ile54Leu Multiple submitters acute intermittent porphyria ⚠
- p.Leu285Arg Multiple submitters ⚠
- p.Lys62Asn Multiple submitters acute intermittent porphyria
- p.Met295Ile Multiple submitters acute intermittent porphyria ⚠
- p.Met56Val Multiple submitters ⚠
- p.Pro127Ala Multiple submitters ⚠
- p.Thr190Ile Multiple submitters HMBS-related disorder ⚠
- p.Trp198Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val143Met Multiple submitters Inborn genetic diseases ⚠
- p.Val202Leu Multiple submitters acute intermittent porphyria ⚠
- p.Val23Met Multiple submitters ⚠
- c.160+3G>A Single submitter
- c.160+3G>T Single submitter
- c.161-10C>G Single submitter
- c.266+11A>G Single submitter
- c.267-9T>G Single submitter
- c.33+669A>G Single submitter
- c.34-3C>T Single submitter
- c.34-9T>A Single submitter
- c.344+4A>G Single submitter
- c.344+5G>A Single submitter
- c.345-3C>T Single submitter
- c.422+4A>G Single submitter
- c.422+5G>C Single submitter
- c.423-14_423-13del Single submitter
- c.423-17_423-16insGGACCGCAGCCGCCGCCGCCCGACCGCCGGGAGGATGGAGTTCAGCGGGCAGCGGAGCTGTCTCAGTCTTTGCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAATCTCATTGTA Single submitter
- c.423-3C>T Single submitter
- c.499-10C>G Single submitter
- c.499-15A>C Single submitter
- c.613-32_613-31inv Single submitter
- c.613-6C>G Single submitter
- c.651+16G>T Single submitter
- c.651+3A>G Single submitter
- c.651+6C>G Single submitter
- c.771+7C>T Single submitter
- c.825+3A>G Single submitter
- c.87+4G>A Single submitter
- c.88-14_88-13delinsAA Single submitter
- c.88-27_88-12del Single submitter acute intermittent porphyria
- c.88-3C>T Single submitter
- c.912+3A>G Single submitter
- c.912+4C>G Single submitter
- c.912+5C>T Single submitter
- c.912+6A>G Single submitter
- c.913-3_913-2del Single submitter
- c.*101G>A Single submitter acute intermittent porphyria
- c.*153G>A Single submitter acute intermittent porphyria
- c.*194A>G Single submitter acute intermittent porphyria
- c.*94T>C Single submitter acute intermittent porphyria
- p.Ala11= Single submitter
- p.Ala112Gly Single submitter ⚠
- p.Ala11Val Single submitter ⚠
- p.Ala191Pro Single submitter ⚠
- p.Ala191Val Single submitter ⚠
- p.Ala226Thr Single submitter ⚠
- p.Ala226Val Single submitter ⚠
- p.Ala266Gly Single submitter ⚠
- p.Ala270Pro Single submitter ⚠
- p.Ala303Asp Single submitter ⚠
- p.Ala303Val Single submitter ⚠
- p.Ala320Val Single submitter ⚠
- p.Ala347Asp Single submitter ⚠
- p.Ala347Pro Single submitter ⚠
- p.Ala40Thr Single submitter ⚠
- p.Ala55Gly Single submitter ⚠
- p.Ala7Val Single submitter ⚠
- p.Ala84Val Single submitter ⚠
- p.Ala8Thr Single submitter Inborn genetic diseases ⚠
- p.Ala8Val Single submitter ⚠
- p.Ala9Thr Single submitter ⚠
- p.Arg149Gly Single submitter ⚠
- p.Arg156Lys Single submitter ⚠
- p.Arg164del Single submitter
- p.Arg164Gly Single submitter ⚠
- p.Arg167Gly Single submitter ⚠
- p.Arg175Gln Single submitter ⚠
- p.Arg175Trp Single submitter ⚠
- p.Arg19Thr Single submitter ⚠
- p.Arg251Ser Single submitter ⚠
- p.Arg255Lys Single submitter ⚠
- p.Arg321Cys Single submitter ⚠
- p.Arg32His Single submitter ⚠
- p.Arg32Leu Single submitter ⚠
- p.Arg355Gln Single submitter ⚠
- p.Asn171Ser Single submitter ⚠
- p.Asn200Lys Single submitter ⚠
- p.Asn200Tyr Single submitter ⚠
- p.Asn322Asp Single submitter Inborn genetic diseases ⚠
- p.Asp121Val Single submitter ⚠
- p.Asp228Ala Single submitter encephalopathy, porphyria-related ⚠
- p.Asp228Gly Single submitter ⚠
- p.Asp230Gly Single submitter ⚠
- p.Asp230Tyr Single submitter ⚠
- p.Asp273Asn Single submitter Inborn genetic diseases ⚠
- p.Asp289Ala Single submitter ⚠
- p.Asp307Asn Single submitter ⚠
- p.Asp352Asn Single submitter ⚠
- p.Asp359Glu Single submitter ⚠
- p.Asp65His Single submitter ⚠
- p.Cys114= Single submitter
- p.Cys114Arg Single submitter ⚠
- p.Cys211Ser Single submitter ⚠
- p.Cys247Trp Single submitter ⚠
- p.Gln180Glu Single submitter Inborn genetic diseases ⚠
- p.Gln181Arg Single submitter ⚠
- p.Gln29Arg Single submitter ⚠
- p.Gln304= Single submitter
- p.Gln304His Single submitter ⚠
- p.Gln328Arg Single submitter ⚠
- p.Gln50Arg Single submitter ⚠
- p.Gln50Pro Single submitter Inborn genetic diseases ⚠
- p.Glu117Lys Single submitter ⚠
- p.Glu117Val Single submitter ⚠
- p.Glu135Gly Single submitter ⚠
- p.Glu13Gly Single submitter ⚠
- p.Glu162Gly Single submitter ⚠
- p.Glu182del Single submitter
- p.Glu209Ala Single submitter ⚠
- p.Glu223Gly Single submitter ⚠
- p.Glu258Ala Single submitter ⚠
- p.Glu258Gly Single submitter ⚠
- p.Glu310Gln Single submitter ⚠
- p.Glu82Asp Single submitter ⚠
- p.Gly168Lys Single submitter
- p.Gly216= Single submitter
- p.Gly216Ala Single submitter ⚠
- p.Gly216Ser Single submitter ⚠
- p.Gly221Arg Single submitter ⚠
- p.Gly221Asp Single submitter ⚠
- p.Gly24Val Single submitter ⚠
- p.Gly287Ser Single submitter ⚠
- p.Gly308Ser Single submitter Inborn genetic diseases ⚠
- p.Gly326Glu Single submitter ⚠
- p.Gly335Val Single submitter ⚠
- p.Gly5Ser Single submitter acute intermittent porphyria ⚠
- p.His120Asn Single submitter ⚠
- p.His120Tyr Single submitter ⚠
- p.His199Arg Single submitter ⚠
- p.His199Gln Single submitter ⚠
- p.His239Tyr Single submitter ⚠
- p.His256Arg Single submitter ⚠
- p.His256Gln Single submitter ⚠
- p.His268Arg Single submitter Inborn genetic diseases ⚠
- p.His361fs Single submitter
- p.His83Arg Single submitter ⚠
- p.Ile110Val Single submitter ⚠
- p.Ile113= Single submitter
- p.Ile166= Single submitter
- p.Ile186Met Single submitter ⚠
- p.Ile21Phe Single submitter ⚠
- p.Ile231Val Single submitter ⚠
- p.Ile291Thr Single submitter ⚠
- p.Ile323Thr Single submitter hereditary ataxia ⚠
- p.Ile54Phe Single submitter ⚠
- p.Leu134Pro Single submitter ⚠
- p.Leu148Arg Single submitter ⚠
- p.Leu154Pro Single submitter ⚠
- p.Leu170His Single submitter ⚠
- p.Leu170Pro Single submitter ⚠
- p.Leu174Phe Single submitter ⚠
- p.Leu232Val Single submitter ⚠
- p.Leu257= Single submitter acute intermittent porphyria
- p.Leu315Ser Single submitter ⚠
- p.Leu42Met Single submitter ⚠
- p.Leu81Phe Single submitter ⚠
- p.Lys132Asn Single submitter ⚠
- p.Lys140Arg Single submitter ⚠
- p.Lys227Glu Single submitter ⚠
- p.Lys227Thr Single submitter ⚠
- p.Lys272Thr Single submitter acute intermittent porphyria ⚠
- p.Lys348Arg Single submitter ⚠
- p.Lys62Glu Single submitter ⚠
- p.Lys70Arg Single submitter ⚠
- p.Met196Ile Single submitter ⚠
- p.Met196Val Single submitter ⚠
- p.Met212Ile Single submitter ⚠
- p.Met271Leu Single submitter ⚠
- p.Met295Thr Single submitter ⚠
- p.Met295Val Single submitter ⚠
- p.Met56Thr Single submitter ⚠
- p.Phe163Leu Single submitter ⚠
- p.Phe51Leu Single submitter ⚠
- p.Pro105Ser Single submitter ⚠
- p.Pro138Ser Single submitter ⚠
- p.Pro138Thr Single submitter ⚠
- p.Pro159Leu Single submitter ⚠
- p.Pro309Arg Single submitter ⚠
- p.Pro327Leu Single submitter ⚠
- p.Ser141Arg Single submitter ⚠
- p.Ser141Asn Single submitter ⚠
- p.Ser184Asn Single submitter ⚠
- p.Ser262Arg Single submitter ⚠
- p.Ser284Asn Single submitter ⚠
- p.Ser2Pro Single submitter ⚠
- p.Ser337Cys Single submitter ⚠
- p.Ser337Thr Single submitter ⚠
- p.Ser344Asn Single submitter ⚠
- p.Ser37Asn Single submitter ⚠
- p.Ser57Phe Single submitter Inborn genetic diseases ⚠
- p.Ser75Asn Single submitter ⚠
- p.Ser96Tyr Single submitter ⚠
- p.Ter362Glu Single submitter
- p.Thr145Ser Single submitter acute intermittent porphyria ⚠
- p.Thr172Pro Single submitter ⚠
- p.Thr243Ala Single submitter Inborn genetic diseases ⚠
- p.Thr25Ile Single submitter ⚠
- p.Thr269Ile Single submitter ⚠
- p.Thr35= Single submitter
- p.Thr59Ile Single submitter ⚠
- p.Thr78Ala Single submitter ⚠
- p.Thr78Ser Single submitter acute intermittent porphyria ⚠
- p.Trp283Cys Single submitter ⚠
- p.Tyr277His Single submitter ⚠
- p.Val123Ile Single submitter ⚠
- p.Val215Leu Single submitter ⚠
- p.Val222Met Single submitter ⚠
- p.Val224Ala Single submitter anxiety ⚠
- p.Val235Met Single submitter ⚠
- p.Val23Leu Single submitter ⚠
- p.Val263Ala Single submitter ⚠
- p.Val263Leu Single submitter ⚠
- p.Val265Ala Single submitter ⚠
- p.Val282Leu Single submitter ⚠
- p.Val301Ile Single submitter ⚠
- p.Val316Ala Single submitter ⚠
- p.Val353Ile Single submitter ⚠
- p.Val90Ala Single submitter ⚠
- p.Val93_Leu97del Single submitter acute intermittent porphyria