Sugi Variant

Sugi Variant/LCK

LCK — 334 ClinVar variants

All ClinVar germline LCK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →

9 Pathogenic · 9 Likely pathogenic · 2 Conflicting · 4 Benign · 5 Benign/Likely benign · 194 Likely benign · 111 Uncertain significance

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

⚑ Evidence disagreements 105

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 2

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

Predictors lean, ClinVar uncertain 75

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

Predictors split 28

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

All LCK variants

Pathogenic 9

  • p.Ala160fs Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Arg139fs Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Arg39Ter Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Lys401Ter Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Thr375_Leu376insTer Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.188-2A>G No assertion criteria severe combined immunodeficiency due to LCK deficiency
  • p.Cys465Arg No assertion criteria severe combined immunodeficiency due to LCK deficiency
  • p.Leu341Pro No assertion criteria severe combined immunodeficiency due to LCK deficiency
  • p.Pro440Ser No assertion criteria severe combined immunodeficiency due to LCK deficiency

Likely pathogenic 9

  • c.1042-1G>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.481+1G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.481+2T>G Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.482-1G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.785-1G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Arg196fs Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Gln93Ter Single submitter severe combined immunodeficiency
  • p.Ser377fs Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Tyr505Ter Single submitter severe combined immunodeficiency due to LCK deficiency

Conflicting classifications of pathogenicity 2

  • p.Ala58Val Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Gly201Ser Single submitter severe combined immunodeficiency due to LCK deficiency ⚠

Benign 4

  • c.1327+114T>C Multiple submitters
  • c.378-11G>T Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • c.*193A>G Multiple submitters
  • p.Gln296= Multiple submitters severe combined immunodeficiency due to LCK deficiency

Benign/Likely benign 5

  • c.1328-7C>T Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • p.Arg45Gln Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • p.Glu176= Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • p.Pro57= Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • p.Ser54Cys Multiple submitters severe combined immunodeficiency due to LCK deficiency

Likely benign 194

  • c.1195+4C>T Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • p.Asp483= Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • p.Gln504= Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • p.Glu204= Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • p.Glu448= Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • p.Leu430= Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • p.Pro200= Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • p.Pro47= Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • p.Ser94Asn Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • p.Thr499= Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • c.1041+14G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1041+17G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1041+18G>C Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1041+9A>G Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1042-15G>C Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1042-18T>C Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1042-8G>A Single submitter
  • c.105+10G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.105+11A>G Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.105+19G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.105+8G>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.106-14C>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.106-14C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1195+14T>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1195+16A>C Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1196-11C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1196-7T>C Single submitter
  • c.1196-8C>G Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1196-9C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1327+10A>C Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1327+12G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1327+18G>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1327+7G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1328-10C>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1328-14C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1328-16_1328-15delinsGA Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1328-16dup Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1328-19_1328-17del Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.1328-4G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.187+80T>C Single submitter
  • c.188-17G>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.188-4A>G Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.188-8del Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.188-9T>C Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.279-13C>G Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.279-16C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.279-4G>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.279-8T>C Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.377+13C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.377+18G>C Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.377+18G>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.377+20G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.377+20G>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.378-10C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.378-12C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.378-17G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.378-17G>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.378-18C>G Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.378-18C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.378-7T>C Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.378-9C>T Single submitter
  • c.481+11G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.481+13C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.481+14G>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.481+20G>C Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.481+7G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.482-16C>G Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.482-6A>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.482-7C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.482-8T>C Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.631+19C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.631+8C>G Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.631+8C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.631+9G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.632-13C>G Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.632-14C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.632-20C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.632-5C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.784+10G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.784+18G>C Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.784+18G>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.784+7_784+8insGGAGTTTCCCAGGGAGACGCTGAAGCTGGTGGAGCGGCTGGGGGCTGGACAGTTCGGGGAGGTGTGGATGGGTGAGTG Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.785-20C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.785-5C>T Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.785-7G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.964+11C>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.964+13C>G Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.964+16G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.964+17T>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.965-15del Single submitter severe combined immunodeficiency due to LCK deficiency
  • c.965-47C>T Single submitter
  • c.965-9T>C Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ala117= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ala119= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ala137= Single submitter
  • p.Ala271= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ala349= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ala381= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ala408= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Arg168= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Arg299= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Arg358= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Arg387= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Arg461= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Arg461Cys Single submitter
  • p.Arg480= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Arg484= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Asn120= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Asn188= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Asn265= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Asn392= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Asn452= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Asn64= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Asp136= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Asp283= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Asp343= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Asp382= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Asp488= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Cys378= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Cys5= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Gln225= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Gln255= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Gln451= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Gln508_Ter510= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Glu393= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Glu454= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Glu495= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Glu73= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Gly106= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Gly215= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Gly257= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Gly262= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Gly278= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Gly415= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Gly85= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Gly95= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.His148= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.His203= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.His208= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.His362= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.His436= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ile111= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ile314= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ile355= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ile380= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Leu141= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Leu251= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Leu295= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Leu30= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Leu300= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Leu328= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Leu371= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Leu376= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Leu385= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Leu388= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Leu453= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Leu65= Single submitter
  • p.Lys135= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Lys246= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Lys33= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Lys99= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Phe170= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Pro232= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Pro282= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Pro311= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Pro447= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Pro466= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Pro56= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Pro74= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ser102= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ser158= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ser162= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ser221= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ser274= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ser281= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ser492= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Thr104= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Thr105= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Thr218= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Thr268= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Thr431= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Thr486= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Tyr304= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Tyr360= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Tyr414= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Tyr51= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Val116= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Val270= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Val28= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Val306= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Val423= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Val434= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Val449= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Val460= Single submitter severe combined immunodeficiency due to LCK deficiency

Uncertain significance 111

  • c.631+3G>A Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • p.Ala284Gly Multiple submitters severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Arg196Pro Multiple submitters severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Arg219Gln Multiple submitters severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Arg222His Multiple submitters severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Arg461His Multiple submitters severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Asn40Ser Multiple submitters severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Asp187Gly Multiple submitters severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Glu10Asp Multiple submitters severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Ile419Val Multiple submitters ⚠
  • p.Ile433Thr Multiple submitters ⚠
  • p.Ile90Met Multiple submitters severe combined immunodeficiency due to LCK deficiency
  • p.Leu132Arg Multiple submitters severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Leu453Val Multiple submitters severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Leu48Val Multiple submitters severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Phe115Leu Multiple submitters severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Ser54Ala Multiple submitters severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Thr431Met Multiple submitters severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Val434Phe Multiple submitters severe combined immunodeficiency due to LCK deficiency ⚠
  • c.1195+5G>A Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ala119Glu Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Ala119Ser Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Ala386Gly Single submitter ⚠
  • p.Arg184His Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Arg196Gln Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Arg219Gly Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Arg242Lys Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Arg242Thr Single submitter ⚠
  • p.Arg299Gln Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Arg299Trp Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Arg358Gln Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Arg397Thr Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Arg438His Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Arg458Leu Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Arg461Ser Single submitter
  • p.Arg480Cys Single submitter ⚠
  • p.Arg484Trp Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Arg89Gly Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Asn131Asp Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Asn146Ser Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Asn173Ser Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Asn211Ile Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Asn321= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Asn321Thr Single submitter ⚠
  • p.Asn339Ser Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Asn446Ser Single submitter ⚠
  • p.Asn452Asp Single submitter ⚠
  • p.Asn452Lys Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Asn464Ser Single submitter ⚠
  • p.Asp187Asn Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Asp214His Single submitter ⚠
  • p.Asp463Ala Single submitter ⚠
  • p.Asp63Asn Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Cys5Arg Single submitter ⚠
  • p.Cys5Trp Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Gln309Arg Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Gln504Lys Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Glu155Lys Single submitter ⚠
  • p.Glu237Lys Single submitter ⚠
  • p.Glu393Lys Single submitter ⚠
  • p.Glu467Ala Single submitter ⚠
  • p.Glu502Asp Single submitter LCK-related disorder ⚠
  • p.Glu52Gln Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Gly109Val Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Gly175Arg Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Gly262Ala Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Gly266Glu Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Gly278Ser Single submitter ⚠
  • p.Gly34Arg Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Gly78Glu Single submitter ⚠
  • p.Gly85Arg Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Gly95Arg Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Gly95Asp Single submitter ⚠
  • p.His148Gln Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Ile17Val Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Ile338Met Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Ile355Thr Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Ile38Val Single submitter ⚠
  • p.Leu245Gln Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Leu469Met Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Leu80Val Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Lys335Met Single submitter ⚠
  • p.Lys84Asn Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Met14Leu Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Phe285Leu Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Phe497Ser Single submitter ⚠
  • p.Phe82Leu Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Pro126Thr Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Pro223His Single submitter ⚠
  • p.Pro232_Trp233insGlnLysPro Single submitter
  • p.Pro232Leu Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Pro442= Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Pro509_Ter(510_? Single submitter severe combined immunodeficiency due to LCK deficiency
  • p.Ser71Gly Single submitter ⚠
  • p.Thr104Ile Single submitter ⚠
  • p.Thr147Ser Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Thr218Ile Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Thr244Lys Single submitter ⚠
  • p.Thr268Met Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Thr35Met Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Thr407Ala Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Thr416Lys Single submitter ⚠
  • p.Thr501Pro Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Trp424Arg Single submitter ⚠
  • p.Trp477Cys Single submitter ⚠
  • p.Trp98Cys Single submitter ⚠
  • p.Tyr263Phe Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Tyr414His Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Tyr505Cys Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Tyr72His Single submitter severe combined immunodeficiency due to LCK deficiency ⚠
  • p.Tyr72Ser Single submitter ⚠