SLC18A3 — 290 ClinVar variants

All ClinVar germline SLC18A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 179 flagged for review →

4 Likely pathogenic · 5 Conflicting · 11 Benign · 1 Benign/Likely benign · 87 Likely benign · 182 Uncertain significance

Full SLC18A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 179

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 3

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

SLC18A3 p.Ala14Val Conflicting Single submitter
congenital myasthenic syndrome 21
SLC18A3 p.Ile200Asn Conflicting Single submitter
congenital myasthenic syndrome 21
SLC18A3 p.Leu344Val Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 114

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

SLC18A3 p.Ala263Val Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Ala321Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Ala376Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Arg148Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Arg212Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Arg30Trp Uncertain significance Multiple submitters
congenital myasthenic syndrome 21
SLC18A3 p.Arg482His Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Arg531His Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Asp59Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Gly368Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Gly509Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Ile61Met Uncertain significance Multiple submitters
congenital myasthenic syndrome 21
SLC18A3 p.Lys16Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Pro208Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Pro511Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Thr311Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Thr319Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Val216Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 21
SLC18A3 p.Val484Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Val504Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Ala172Val Uncertain significance Single submitter
SLC18A3 p.Ala219Asp Uncertain significance Single submitter
SLC18A3 p.Ala228Ser Uncertain significance Single submitter
SLC18A3 p.Ala349Glu Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Ala350Val Uncertain significance Single submitter
SLC18A3 p.Ala365Pro Uncertain significance Single submitter
congenital myasthenic syndrome 21
SLC18A3 p.Ala365Val Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Ala4Gly Uncertain significance Single submitter
SLC18A3 p.Ala90Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Ala99Ser Uncertain significance Single submitter
congenital myasthenic syndrome 21
SLC18A3 p.Arg11Leu Uncertain significance Single submitter
SLC18A3 p.Arg148Leu Uncertain significance Single submitter
SLC18A3 p.Arg242Leu Uncertain significance Single submitter
SLC18A3 p.Arg30Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Arg378Ser Uncertain significance Single submitter
SLC18A3 p.Arg412His Uncertain significance Single submitter
SLC18A3 p.Arg412Ser Uncertain significance Single submitter
congenital myasthenic syndrome 21
SLC18A3 p.Arg470Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Arg479Gly Uncertain significance Single submitter
SLC18A3 p.Arg479His Uncertain significance Single submitter
SLC18A3 p.Arg502Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Arg531Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Arg65Gly Uncertain significance Single submitter
SLC18A3 p.Asp152Glu Uncertain significance Single submitter
SLC18A3 p.Asp152Tyr Uncertain significance Single submitter
SLC18A3 p.Asp193Tyr Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Asp202Gly Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Asp202Tyr Uncertain significance Single submitter
SLC18A3 p.Asp288Glu Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Asp46Gly Uncertain significance Single submitter
SLC18A3 p.Asp508Glu Uncertain significance Single submitter
SLC18A3 p.Asp508Gly Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Asp508Tyr Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Cys388Tyr Uncertain significance Single submitter
SLC18A3 p.Gln491His Uncertain significance Single submitter
SLC18A3 p.Gly108Ala Uncertain significance Single submitter
SLC18A3 p.Gly143Ala Uncertain significance Single submitter
SLC18A3 p.Gly186Ala Uncertain significance Single submitter
congenital myasthenic syndrome 21
SLC18A3 p.Gly22Ser Uncertain significance Single submitter
SLC18A3 p.Gly240Arg Uncertain significance Single submitter
SLC18A3 p.Gly473Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Gly492Asp Uncertain significance Single submitter
SLC18A3 p.Gly506Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Gly8Asp Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.His283Arg Uncertain significance Single submitter
SLC18A3 p.His413Gln Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Ile197Met Uncertain significance Single submitter
SLC18A3 p.Ile303Val Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Ile38Phe Uncertain significance Single submitter
SLC18A3 p.Leu235His Uncertain significance Single submitter
SLC18A3 p.Leu253Pro Uncertain significance Single submitter
SLC18A3 p.Leu285Pro Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Leu362Val Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Leu401Pro Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Leu460Pro Uncertain significance Single submitter
SLC18A3 p.Lys131Arg Uncertain significance Single submitter
SLC18A3 p.Lys317Gln Uncertain significance Single submitter
SLC18A3 p.Met199Leu Uncertain significance Single submitter
SLC18A3 p.Met199Lys Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Met329Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Met51Ile Uncertain significance Single submitter
congenital myasthenic syndrome 21
SLC18A3 p.Met51Val Uncertain significance Single submitter
congenital myasthenic syndrome 21
SLC18A3 p.Phe169Ile Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Phe169Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Phe448Leu Uncertain significance Single submitter
SLC18A3 p.Pro116Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Pro140Ser Uncertain significance Single submitter
SLC18A3 p.Pro154Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Pro265His Uncertain significance Single submitter
SLC18A3 p.Pro289His Uncertain significance Single submitter
SLC18A3 p.Pro436Arg Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Pro514Arg Uncertain significance Single submitter
SLC18A3 p.Pro80Ser Uncertain significance Single submitter
SLC18A3 p.Ser225Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Ser252Leu Uncertain significance Single submitter
SLC18A3 p.Ser370Ile Uncertain significance Single submitter
SLC18A3 p.Ser532Asn Uncertain significance Single submitter
SLC18A3 p.Thr117Met Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Thr177Met Uncertain significance Single submitter
SLC18A3 p.Thr345Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Thr345Ile Uncertain significance Single submitter
SLC18A3 p.Thr404Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Trp78Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Tyr175Cys Uncertain significance Single submitter
SLC18A3 p.Tyr236Cys Uncertain significance Single submitter
SLC18A3 p.Tyr359Phe Uncertain significance Single submitter
SLC18A3 p.Tyr529His Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Val243Leu Uncertain significance Single submitter
SLC18A3 p.Val251Met Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Val37Ala Uncertain significance Single submitter
SLC18A3 p.Val411Ala Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Val414Ile Uncertain significance Single submitter
SLC18A3 p.Val472Leu Uncertain significance Single submitter
SLC18A3 p.Pro281Leu Uncertain significance No assertion criteria
SLC18A3-related disorder

Predictors split 62

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

SLC18A3 p.Ala129Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Ala14Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Ala239Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Ala261Pro Uncertain significance Multiple submitters
congenital myasthenic syndrome 21
SLC18A3 p.Ala268Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Arg112Trp Uncertain significance Multiple submitters
SLC18A3 p.Arg212Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Phe307Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Pro101Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Pro281Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Ser100Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Val227Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SLC18A3 p.Val227Gly Uncertain significance Multiple submitters
congenital myasthenic syndrome 21
SLC18A3 p.Ala110Asp Uncertain significance Single submitter
SLC18A3 p.Ala12Thr Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Ala13Pro Benign Single submitter
SLC18A3 p.Ala176Asp Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Ala180Gly Uncertain significance Single submitter
congenital myasthenic syndrome 21
SLC18A3 p.Ala239Val Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Ala23Thr Uncertain significance Single submitter
SLC18A3 p.Ala256Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Ala261Thr Uncertain significance Single submitter
SLC18A3 p.Ala268Val Uncertain significance Single submitter
SLC18A3 p.Ala274Thr Uncertain significance Single submitter
SLC18A3 p.Ala306Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Ala330Ser Uncertain significance Single submitter
SLC18A3 p.Ala433Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Ala463Gly Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Ala99Gly Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Arg11Gln Likely benign Single submitter
SLC18A3 p.Arg212Gly Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Arg284His Uncertain significance Single submitter
SLC18A3 p.Arg29Trp Conflicting Single submitter
congenital myasthenic syndrome 21
SLC18A3 p.Arg347Leu Uncertain significance Single submitter
SLC18A3 p.Arg479Leu Uncertain significance Single submitter
SLC18A3 p.Arg502Gly Uncertain significance Single submitter
SLC18A3 p.Arg531Cys Likely benign Single submitter
SLC18A3 p.Asp59Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Glu522Lys Uncertain significance Single submitter
SLC18A3 p.Gly196Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Gly360Cys Uncertain significance Single submitter
SLC18A3 p.Ile234Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Ile367Met Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Ile423Met Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Leu246Phe Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Leu258Trp Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Leu260Met Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Leu355Val Uncertain significance Single submitter
SLC18A3 p.Lys16Asn Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Met162Ile Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Met199Val Uncertain significance Single submitter
SLC18A3 p.Met286Val Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Pro106Leu Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Pro144Ser Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Pro80Leu Uncertain significance Single submitter
SLC18A3 p.Ser370Thr Uncertain significance Single submitter
SLC18A3 p.Thr314Lys Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Thr81Ile Uncertain significance Single submitter
congenital myasthenic syndrome 21
SLC18A3 p.Tyr290Cys Uncertain significance Single submitter
Inborn genetic diseases
SLC18A3 p.Val385Ile Uncertain significance Single submitter
SLC18A3 p.Val504Met Uncertain significance Single submitter
SLC18A3 p.Val77Met Uncertain significance Single submitter
congenital myasthenic syndrome 21

All SLC18A3 variants

Likely pathogenic 4

p.Asp398His Single submitter congenital myasthenic syndrome 21
p.Met51fs Single submitter congenital myasthenic syndrome 21
p.Pro116fs Single submitter
p.Trp315Ter Single submitter

Conflicting classifications of pathogenicity 5

p.Ala14Val Single submitter congenital myasthenic syndrome 21 ⚠
p.Arg29Trp Single submitter congenital myasthenic syndrome 21 ⚠
p.Cys372Ter Single submitter congenital myasthenic syndrome 21
p.Ile200Asn Single submitter congenital myasthenic syndrome 21 ⚠
p.Leu344Val Single submitter Inborn genetic diseases ⚠

Benign 11

c.*39G>T Multiple submitters
p.Ala132= Multiple submitters
p.Arg212= Multiple submitters
p.Arg30= Multiple submitters
p.Tyr528= Multiple submitters
p.Ala13Pro Single submitter ⚠
p.Glu309= Single submitter
p.Ile426Val Single submitter
p.Pro205= Single submitter
p.Pro208Arg Single submitter
p.Pro375= Single submitter

Benign/Likely benign 1

p.Ala520Glu Multiple submitters congenital myasthenic syndrome 21

Likely benign 87

p.Ala12= Single submitter
p.Ala13= Single submitter
p.Ala170= Single submitter
p.Ala181= Single submitter
p.Ala190= Single submitter
p.Ala201= Single submitter
p.Ala217= Single submitter
p.Ala239= Single submitter
p.Ala256= Single submitter
p.Ala261Val Single submitter Inborn genetic diseases
p.Ala272= Single submitter
p.Ala361= Single submitter
p.Ala381= Single submitter
p.Ala395= Single submitter
p.Ala4= Single submitter
p.Ala400= Single submitter
p.Ala431= Single submitter
p.Ala433= Single submitter
p.Arg11Gln Single submitter ⚠
p.Arg271= Single submitter
p.Arg500= Single submitter
p.Arg531Cys Single submitter ⚠
p.Arg65= Single submitter
p.Asn275= Single submitter
p.Asn96= Single submitter
p.Asp255= Single submitter
p.Asp288= Single submitter
p.Asp410= Single submitter
p.Asp487= Single submitter
p.Cys388= Single submitter
p.Glu173= Single submitter
p.Glu324= Single submitter
p.Gly70Ser Single submitter
p.Ile200= Single submitter
p.Ile367= Single submitter
p.Ile38= Single submitter
p.Ile61= Single submitter
p.Leu127= Single submitter
p.Leu178= Single submitter
p.Leu214= Single submitter
p.Leu257= Single submitter
p.Leu285= Single submitter
p.Leu287= Single submitter
p.Leu305= Single submitter
p.Leu308= Single submitter
p.Leu348= Single submitter
p.Leu355= Single submitter
p.Leu36= Single submitter
p.Leu364= Single submitter
p.Leu402= Single submitter
p.Leu405= Single submitter
p.Leu434= Single submitter
p.Leu485= Single submitter
p.Leu493= Single submitter
p.Leu82= Single submitter
p.Lys131= Single submitter
p.Phe171= Single submitter
p.Phe223= Single submitter
p.Pro106= Single submitter
p.Pro229= Single submitter
p.Pro281= Single submitter
p.Pro289= Single submitter
p.Pro333= Single submitter
p.Pro436= Single submitter
p.Pro464= Single submitter
p.Pro514= Single submitter
p.Pro517= Single submitter
p.Pro75= Single submitter
p.Pro80= Single submitter
p.Pro83= Single submitter
p.Pro87= Single submitter
p.Ser3= Single submitter
p.Ser371= Single submitter
p.Thr117= Single submitter
p.Thr280= Single submitter
p.Thr319= Single submitter
p.Thr345= Single submitter
p.Thr404= Single submitter
p.Thr72= Single submitter
p.Tyr236= Single submitter
p.Tyr417= Single submitter
p.Tyr432= Single submitter
p.Val247= Single submitter
p.Val374= Single submitter
p.Val385= Single submitter
p.Val416= Single submitter
p.Val443= Single submitter

Uncertain significance 182

p.Ala129Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala14Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala239Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala261Pro Multiple submitters congenital myasthenic syndrome 21 ⚠
p.Ala263Val Multiple submitters Inborn genetic diseases ⚠
p.Ala268Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala321Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala376Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg112Trp Multiple submitters ⚠
p.Arg148Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg212Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg212Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg30Trp Multiple submitters congenital myasthenic syndrome 21 ⚠
p.Arg482His Multiple submitters Inborn genetic diseases ⚠
p.Arg531His Multiple submitters Inborn genetic diseases ⚠
p.Asp59Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly368Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly509Ala Multiple submitters Inborn genetic diseases ⚠
p.Ile61Met Multiple submitters congenital myasthenic syndrome 21 ⚠
p.Lys16Glu Multiple submitters Inborn genetic diseases ⚠
p.Phe307Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro101Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro208Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro281Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro511Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser100Tyr Multiple submitters Inborn genetic diseases ⚠
p.Thr311Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr319Arg Multiple submitters Inborn genetic diseases ⚠
p.Val216Leu Multiple submitters congenital myasthenic syndrome 21 ⚠
p.Val227Ala Multiple submitters Inborn genetic diseases ⚠
p.Val227Gly Multiple submitters congenital myasthenic syndrome 21 ⚠
p.Val484Ala Multiple submitters Inborn genetic diseases ⚠
p.Val504Leu Multiple submitters Inborn genetic diseases ⚠
p.Ala110Asp Single submitter ⚠
p.Ala12Arg Single submitter
p.Ala12Thr Single submitter Inborn genetic diseases ⚠
p.Ala172Val Single submitter ⚠
p.Ala176Asp Single submitter Inborn genetic diseases ⚠
p.Ala180Gly Single submitter congenital myasthenic syndrome 21 ⚠
p.Ala219Asp Single submitter ⚠
p.Ala228Ser Single submitter ⚠
p.Ala239Val Single submitter Inborn genetic diseases ⚠
p.Ala23Thr Single submitter ⚠
p.Ala256Ser Single submitter Inborn genetic diseases ⚠
p.Ala261Thr Single submitter ⚠
p.Ala268Val Single submitter ⚠
p.Ala274Thr Single submitter ⚠
p.Ala306Ser Single submitter Inborn genetic diseases ⚠
p.Ala330Ser Single submitter ⚠
p.Ala349Glu Single submitter Inborn genetic diseases ⚠
p.Ala350Val Single submitter ⚠
p.Ala365Pro Single submitter congenital myasthenic syndrome 21 ⚠
p.Ala365Val Single submitter Inborn genetic diseases ⚠
p.Ala433Ser Single submitter Inborn genetic diseases ⚠
p.Ala463Gly Single submitter Inborn genetic diseases ⚠
p.Ala4Gly Single submitter ⚠
p.Ala90Thr Single submitter Inborn genetic diseases ⚠
p.Ala99Gly Single submitter Inborn genetic diseases ⚠
p.Ala99Ser Single submitter congenital myasthenic syndrome 21 ⚠
p.Arg11Leu Single submitter ⚠
p.Arg148Leu Single submitter ⚠
p.Arg212Gly Single submitter Inborn genetic diseases ⚠
p.Arg242Leu Single submitter ⚠
p.Arg273= Single submitter
p.Arg284His Single submitter ⚠
p.Arg30Leu Single submitter Inborn genetic diseases ⚠
p.Arg347Leu Single submitter ⚠
p.Arg378Ser Single submitter ⚠
p.Arg412His Single submitter ⚠
p.Arg412Ser Single submitter congenital myasthenic syndrome 21 ⚠
p.Arg470Leu Single submitter Inborn genetic diseases ⚠
p.Arg479Gly Single submitter ⚠
p.Arg479His Single submitter ⚠
p.Arg479Leu Single submitter ⚠
p.Arg502Gly Single submitter ⚠
p.Arg502Ser Single submitter Inborn genetic diseases ⚠
p.Arg531Ser Single submitter Inborn genetic diseases ⚠
p.Arg65Gly Single submitter ⚠
p.Asp152Glu Single submitter ⚠
p.Asp152Tyr Single submitter ⚠
p.Asp193Tyr Single submitter Inborn genetic diseases ⚠
p.Asp202Gly Single submitter Inborn genetic diseases ⚠
p.Asp202Tyr Single submitter ⚠
p.Asp288Glu Single submitter Inborn genetic diseases ⚠
p.Asp46Gly Single submitter ⚠
p.Asp508Glu Single submitter ⚠
p.Asp508Gly Single submitter Inborn genetic diseases ⚠
p.Asp508Tyr Single submitter Inborn genetic diseases ⚠
p.Asp59Asn Single submitter Inborn genetic diseases ⚠
p.Cys388Tyr Single submitter ⚠
p.Gln491His Single submitter ⚠
p.Glu522Lys Single submitter ⚠
p.Gly108Ala Single submitter ⚠
p.Gly143Ala Single submitter ⚠
p.Gly160Val Single submitter
p.Gly186= Single submitter
p.Gly186Ala Single submitter congenital myasthenic syndrome 21 ⚠
p.Gly196Ser Single submitter Inborn genetic diseases ⚠
p.Gly22Ser Single submitter ⚠
p.Gly240Arg Single submitter ⚠
p.Gly360Cys Single submitter ⚠
p.Gly473Ser Single submitter Inborn genetic diseases ⚠
p.Gly492Asp Single submitter ⚠
p.Gly506Ser Single submitter Inborn genetic diseases ⚠
p.Gly8Asp Single submitter Inborn genetic diseases ⚠
p.His283= Single submitter
p.His283Arg Single submitter ⚠
p.His413Gln Single submitter Inborn genetic diseases ⚠
p.Ile197Met Single submitter ⚠
p.Ile234Ser Single submitter Inborn genetic diseases ⚠
p.Ile303Val Single submitter Inborn genetic diseases ⚠
p.Ile367Met Single submitter Inborn genetic diseases ⚠
p.Ile38Phe Single submitter ⚠
p.Ile423Met Single submitter Inborn genetic diseases ⚠
p.Leu136= Single submitter
p.Leu235His Single submitter ⚠
p.Leu246Phe Single submitter Inborn genetic diseases ⚠
p.Leu253= Single submitter
p.Leu253Pro Single submitter ⚠
p.Leu258Trp Single submitter Inborn genetic diseases ⚠
p.Leu260Met Single submitter Inborn genetic diseases ⚠
p.Leu285Pro Single submitter Inborn genetic diseases ⚠
p.Leu355Val Single submitter ⚠
p.Leu362Val Single submitter Inborn genetic diseases ⚠
p.Leu401Pro Single submitter Inborn genetic diseases ⚠
p.Leu460Pro Single submitter ⚠
p.Lys131Arg Single submitter ⚠
p.Lys16Asn Single submitter Inborn genetic diseases ⚠
p.Lys317Gln Single submitter ⚠
p.Met162Ile Single submitter Inborn genetic diseases ⚠
p.Met199Leu Single submitter ⚠
p.Met199Lys Single submitter Inborn genetic diseases ⚠
p.Met199Val Single submitter ⚠
p.Met286Val Single submitter Inborn genetic diseases ⚠
p.Met329Leu Single submitter Inborn genetic diseases ⚠
p.Met51Ile Single submitter congenital myasthenic syndrome 21 ⚠
p.Met51Val Single submitter congenital myasthenic syndrome 21 ⚠
p.Phe169Ile Single submitter Inborn genetic diseases ⚠
p.Phe169Leu Single submitter Inborn genetic diseases ⚠
p.Phe254fs Single submitter
p.Phe448Leu Single submitter ⚠
p.Pro106Leu Single submitter Inborn genetic diseases ⚠
p.Pro116Leu Single submitter Inborn genetic diseases ⚠
p.Pro140Ser Single submitter ⚠
p.Pro144Ser Single submitter Inborn genetic diseases ⚠
p.Pro154Ser Single submitter Inborn genetic diseases ⚠
p.Pro265His Single submitter ⚠
p.Pro289His Single submitter ⚠
p.Pro436Arg Single submitter Inborn genetic diseases ⚠
p.Pro514Arg Single submitter ⚠
p.Pro80Leu Single submitter ⚠
p.Pro80Ser Single submitter ⚠
p.Ser225Asn Single submitter Inborn genetic diseases ⚠
p.Ser252Leu Single submitter ⚠
p.Ser370Ile Single submitter ⚠
p.Ser370Thr Single submitter ⚠
p.Ser532Asn Single submitter ⚠
p.Thr117Met Single submitter Inborn genetic diseases ⚠
p.Thr177Met Single submitter ⚠
p.Thr314Lys Single submitter Inborn genetic diseases ⚠
p.Thr345Ala Single submitter Inborn genetic diseases ⚠
p.Thr345Ile Single submitter ⚠
p.Thr404Ala Single submitter Inborn genetic diseases ⚠
p.Thr81Ile Single submitter congenital myasthenic syndrome 21 ⚠
p.Trp78Leu Single submitter Inborn genetic diseases ⚠
p.Tyr175Cys Single submitter ⚠
p.Tyr236Cys Single submitter ⚠
p.Tyr290Cys Single submitter Inborn genetic diseases ⚠
p.Tyr359Phe Single submitter ⚠
p.Tyr529His Single submitter Inborn genetic diseases ⚠
p.Tyr93= Single submitter
p.Val243Leu Single submitter ⚠
p.Val251Met Single submitter Inborn genetic diseases ⚠
p.Val294fs Single submitter
p.Val37Ala Single submitter ⚠
p.Val385Ile Single submitter ⚠
p.Val411Ala Single submitter Inborn genetic diseases ⚠
p.Val414Ile Single submitter ⚠
p.Val472Leu Single submitter ⚠
p.Val504Met Single submitter ⚠
p.Val77Met Single submitter congenital myasthenic syndrome 21 ⚠
p.Pro281Leu No assertion criteria SLC18A3-related disorder ⚠