ITK — 596 ClinVar variants
All ClinVar germline ITK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 222 flagged for review →
14 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 21 Conflicting · 42 Benign · 3 Benign/Likely benign · 238 Likely benign · 271 Uncertain significance
Full ITK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 222
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.
-
ITK p.Asp359His
Conflicting
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Lys119Arg
Conflicting
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Thr504Ser
Conflicting
Single submitter
lymphoproliferative syndrome 1
Predictors lean, ClinVar uncertain 128
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ITK p.Ala191Thr
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Ala345Val
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Arg246Gln
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Arg96His
Uncertain significance
Multiple submitters
ITK-related disorder
-
ITK p.Arg96Pro
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
ITK p.Gln428Lys
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Glu196Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITK p.His586Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITK p.Ile290Leu
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Ile571Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITK p.Ile590Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITK p.Leu136Pro
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Lys412Arg
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Met126Ile
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Thr348Arg
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Thr50Met
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Val282Ile
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Val357Met
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Val498Leu
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
- ITK p.Ala140Thr Uncertain significance Single submitter
-
ITK p.Ala261Asp
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ala261Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ala281Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Ala345Ser
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ala39Ser
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ala407Ser
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ala455Pro
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ala604Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Ala616Ser
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg111Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Arg165Ser
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg29Cys
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg448Pro
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg581Gln
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg581Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg59Gln
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg602Gln
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg602Leu
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg602Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Arg610His
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg96Cys
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg96Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg96Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Arg99Trp
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asn114His
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asn164Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Asn164Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asn232Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Asn286Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Asn286Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asp147Asn
Uncertain significance
Single submitter
autoinflammatory syndrome
-
ITK p.Asp163His
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asp247Glu
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asp255Glu
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
- ITK p.Asp266His Uncertain significance Single submitter
-
ITK p.Asp359Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asp445Glu
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asp465Ala
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asp465Asn
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asp510Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asp540Asn
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Cys339Ser
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Gln145Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Gln428Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Glu137Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Glu457Asp
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Glu617Ala
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Glu9Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Gly219Ala
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Gly350Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Gly354Glu
Uncertain significance
Single submitter
ITK-related disorder
-
ITK p.Gly375Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Gly441Ser
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Gly452Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Gly517Asp
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Gly574Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.His45Leu
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ile177Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ile290Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ile316Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Ile404Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ile55Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ile590Leu
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Leu226Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Leu253Pro
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Leu483Met
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Lys129Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Lys150Asn
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Lys242Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Lys291Asn
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Lys417Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Lys47Asn
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Lys579Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Met410Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Met438Leu
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Met470Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Met548Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Phe31Leu
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Phe454Ser
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Phe4Leu
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Pro167Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Pro167Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Pro187Ser
Uncertain significance
Single submitter
autoinflammatory syndrome
-
ITK p.Pro521Leu
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Pro558Leu
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Pro580Ser
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Pro603Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ser115Asn
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ser243Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Ser515Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Ser526Pro
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ser526Tyr
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ser54Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ser71Asn
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ser71Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Tyr225Cys
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Tyr446Phe
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Tyr578Cys
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Tyr578His
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Tyr76His
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Val282Leu
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Val347Ile
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Val388Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Val419Met
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Val522Ala
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Val551Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ITK p.Leu577Trp Uncertain significance No assertion criteria
-
ITK p.Tyr240Cys
Uncertain significance
No assertion criteria
lymphoproliferative syndrome 1
Predictors split 91
The independent predictors disagree with each other — read with care.
-
ITK p.Ala261Thr
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Ala308Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITK p.Ala471Thr
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Ala525Thr
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Ala583Val
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Arg304Gln
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Arg448His
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Arg451Trp
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Arg534His
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Asp314His
Uncertain significance
Multiple submitters
ITK-related disorder
-
ITK p.Gly354Arg
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.His378Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITK p.Leu612Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITK p.Lys385Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITK p.Phe530Val
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
ITK p.Ser223Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITK p.Ser361Leu
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Ser572Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITK p.Thr256Ile
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Thr348Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITK p.Thr364Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ITK p.Tyr180Cys
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Tyr588His
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Val103Met
Uncertain significance
Multiple submitters
lymphoproliferative syndrome 1
-
ITK p.Ala471Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg101His
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg166Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Arg166Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg193Trp
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg194Cys
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg194His
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg214Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg335Gln
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg394Gln
Conflicting
Single submitter
lymphoproliferative syndrome 1
- ITK p.Arg394Trp Uncertain significance Single submitter
-
ITK p.Arg448Cys
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg448Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg44Cys
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg44His
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg49Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Arg49His
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg562Gln
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg581Trp
Conflicting
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Arg99Gln
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asn195His
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asn287Asp
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asp147His
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asp255Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asp314Asn
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Asp570Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Cys432Ser
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Gln17Lys
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Glu108Gly
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Glu196Lys
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Glu218Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Glu238Ala
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Glu569Lys
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Gly46Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.His325Tyr
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
- ITK p.Ile177Thr Uncertain significance Single submitter
-
ITK p.Ile358Met
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ile393Val
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ile404Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Ile65Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Leu351Arg
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Lys303Asn
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Lys355Glu
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Lys48Met
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Lys48Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Met263Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Met411Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Phe124Leu
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Phe506Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Pro122Thr
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Pro171Leu
Conflicting
Single submitter
Inborn genetic diseases
-
ITK p.Pro599Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Ser371Asn
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Ser553Asn
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Thr110Met
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Thr160Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ITK p.Tyr220Cys
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Tyr472His
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Val176Ile
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Val211Ile
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Val211Leu
Conflicting
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Val264Ile
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Val275Met
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Val28Phe
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Val312Ala
Uncertain significance
Single submitter
lymphoproliferative syndrome 1
-
ITK p.Val357Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ITK p.Phe520Leu Uncertain significance No assertion criteria
All ITK variants
Pathogenic 14
- p.Arg59Ter Single submitter lymphoproliferative syndrome 1
- p.Asp127fs Single submitter lymphoproliferative syndrome 1
- p.Gln17Ter Single submitter lymphoproliferative syndrome 1
- p.Glu309Ter Single submitter lymphoproliferative syndrome 1
- p.Glu401Ter Single submitter lymphoproliferative syndrome 1
- p.Gly555fs Single submitter lymphoproliferative syndrome 1
- p.Lys248Ter Single submitter lymphoproliferative syndrome 1
- p.Lys291Ter Single submitter lymphoproliferative syndrome 1
- p.Lys310fs Single submitter
- p.Trp130Ter Single submitter lymphoproliferative syndrome 1
- p.Tyr273Ter Single submitter lymphoproliferative syndrome 1
- p.Tyr305fs Single submitter Inborn genetic diseases
- p.Tyr76Ter Single submitter lymphoproliferative syndrome 1
- p.Tyr588Ter No assertion criteria lymphoproliferative syndrome 1
Pathogenic/Likely pathogenic 1
- p.Arg562Ter Multiple submitters
Likely pathogenic 6
- c.1233-1G>A Single submitter lymphoproliferative syndrome 1
- c.139-2A>G Single submitter lymphoproliferative syndrome 1
- c.455-1G>C Single submitter lymphoproliferative syndrome 1
- p.Arg29His Single submitter lymphoproliferative syndrome 1
- p.Arg335Trp Single submitter lymphoproliferative syndrome 1
- p.Arg44fs Single submitter lymphoproliferative syndrome 1
Conflicting classifications of pathogenicity 21
- c.1060+12A>C Single submitter lymphoproliferative syndrome 1
- c.138+13T>C Single submitter lymphoproliferative syndrome 1
- c.139-6C>T Single submitter autoinflammatory syndrome
- c.1792-4C>T Single submitter lymphoproliferative syndrome 1
- c.495+12C>T Single submitter lymphoproliferative syndrome 1
- c.496-4C>G Single submitter lymphoproliferative syndrome 1
- p.Ala270= Single submitter autoinflammatory syndrome
- p.Ala485= Single submitter lymphoproliferative syndrome 1
- p.Arg394Gln Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg581Trp Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asp359His Single submitter lymphoproliferative syndrome 1 ⚠
- p.Cys132= Single submitter lymphoproliferative syndrome 1
- p.Gln373= Single submitter lymphoproliferative syndrome 1
- p.Leu11= Single submitter lymphoproliferative syndrome 1
- p.Leu426= Single submitter autoinflammatory syndrome
- p.Lys119Arg Single submitter lymphoproliferative syndrome 1 ⚠
- p.Pro171Leu Single submitter Inborn genetic diseases ⚠
- p.Pro521= Single submitter lymphoproliferative syndrome 1
- p.Pro79= Single submitter lymphoproliferative syndrome 1
- p.Thr504Ser Single submitter lymphoproliferative syndrome 1 ⚠
- p.Val211Leu Single submitter lymphoproliferative syndrome 1 ⚠
Benign 42
- c.1232+112C>T Multiple submitters
- c.1232+19G>A Multiple submitters lymphoproliferative syndrome 1
- c.1450-17G>A Multiple submitters lymphoproliferative syndrome 1
- c.1792-41T>C Multiple submitters
- c.495+22G>A Multiple submitters
- c.647+28C>T Multiple submitters
- c.769-10A>T Multiple submitters autoinflammatory syndrome
- c.769-13C>T Multiple submitters lymphoproliferative syndrome 1
- c.985+75G>A Multiple submitters
- c.1061-19CT[8] Single submitter lymphoproliferative syndrome 1
- c.1232+196C>T Single submitter
- c.138+158T>A Single submitter
- c.139-5dup Single submitter lymphoproliferative syndrome 1
- c.1633+216T>C Single submitter
- c.1634-16T>C Single submitter lymphoproliferative syndrome 1
- c.1792-194G>A Single submitter
- c.243+316C>T Single submitter
- c.326-157G>A Single submitter
- c.326-630dup Single submitter
- c.455-229G>A Single submitter
- c.455-254C>T Single submitter
- c.648-291G>T Single submitter
- c.768+202AGGG[2] Single submitter
- c.769-141C>T Single submitter
- c.769-164C>T Single submitter
- c.769-220G>T Single submitter
- c.769-297T>C Single submitter
- c.852-273T>G Single submitter
- c.985+241C>A Single submitter
- c.986-188T>C Single submitter
- c.-32C>A Single submitter lymphoproliferative syndrome 1
- c.*1188A>G Single submitter lymphoproliferative syndrome 1
- c.*1208G>T Single submitter lymphoproliferative syndrome 1
- c.*1350G>A Single submitter lymphoproliferative syndrome 1
- c.*1361G>A Single submitter lymphoproliferative syndrome 1
- c.*153A>C Single submitter lymphoproliferative syndrome 1
- c.*1866C>T Single submitter lymphoproliferative syndrome 1
- c.*386G>A Single submitter lymphoproliferative syndrome 1
- c.*486G>T Single submitter lymphoproliferative syndrome 1
- c.*941C>A Single submitter lymphoproliferative syndrome 1
- c.*997A>G Single submitter lymphoproliferative syndrome 1
- p.Tyr76= Single submitter lymphoproliferative syndrome 1
Benign/Likely benign 3
- c.244-8G>A Multiple submitters autoinflammatory syndrome
- p.Arg193Gln Multiple submitters autoinflammatory syndrome
- p.Val587Ile Multiple submitters autoinflammatory syndrome
Likely benign 238
- c.1449+7G>C Multiple submitters lymphoproliferative syndrome 1
- c.1515-10C>T Multiple submitters lymphoproliferative syndrome 1
- c.495+9G>C Multiple submitters lymphoproliferative syndrome 1
- c.*980C>T Multiple submitters lymphoproliferative syndrome 1
- p.Arg610Cys Multiple submitters lymphoproliferative syndrome 1
- p.Gly375= Multiple submitters lymphoproliferative syndrome 1
- p.Gly555= Multiple submitters lymphoproliferative syndrome 1
- p.Phe506= Multiple submitters lymphoproliferative syndrome 1
- p.Thr110= Multiple submitters lymphoproliferative syndrome 1
- p.Tyr225= Multiple submitters lymphoproliferative syndrome 1
- c.1060+11C>A Single submitter lymphoproliferative syndrome 1
- c.1061-17C>T Single submitter lymphoproliferative syndrome 1
- c.1061-20A>G Single submitter lymphoproliferative syndrome 1
- c.1061-7C>T Single submitter lymphoproliferative syndrome 1
- c.1232+15C>A Single submitter lymphoproliferative syndrome 1
- c.1232+19G>C Single submitter lymphoproliferative syndrome 1
- c.1233-15G>C Single submitter lymphoproliferative syndrome 1
- c.1233-16T>C Single submitter lymphoproliferative syndrome 1
- c.1233-6C>T Single submitter lymphoproliferative syndrome 1
- c.1233-8T>C Single submitter lymphoproliferative syndrome 1
- c.138+19_138+20dup Single submitter lymphoproliferative syndrome 1
- c.139-20A>T Single submitter lymphoproliferative syndrome 1
- c.139-4A>C Single submitter lymphoproliferative syndrome 1
- c.1449+10T>C Single submitter lymphoproliferative syndrome 1
- c.1449+16G>C Single submitter lymphoproliferative syndrome 1
- c.1449+7G>T Single submitter lymphoproliferative syndrome 1
- c.1450-10T>C Single submitter lymphoproliferative syndrome 1
- c.1450-13G>A Single submitter lymphoproliferative syndrome 1
- c.1450-16C>T Single submitter lymphoproliferative syndrome 1
- c.1450-20T>C Single submitter lymphoproliferative syndrome 1
- c.1450-4C>T Single submitter lymphoproliferative syndrome 1
- c.1450-8C>G Single submitter lymphoproliferative syndrome 1
- c.1450-9C>T Single submitter lymphoproliferative syndrome 1
- c.1514+11G>C Single submitter lymphoproliferative syndrome 1
- c.1514+13T>A Single submitter lymphoproliferative syndrome 1
- c.1514+17G>T Single submitter lymphoproliferative syndrome 1
- c.1515-11T>C Single submitter lymphoproliferative syndrome 1
- c.1515-18C>T Single submitter lymphoproliferative syndrome 1
- c.1515-8C>G Single submitter lymphoproliferative syndrome 1
- c.1633+14T>C Single submitter lymphoproliferative syndrome 1
- c.1633+17G>A Single submitter lymphoproliferative syndrome 1
- c.1634-17C>A Single submitter lymphoproliferative syndrome 1
- c.1634-17C>T Single submitter lymphoproliferative syndrome 1
- c.1634-20G>A Single submitter lymphoproliferative syndrome 1
- c.1634-5T>C Single submitter lymphoproliferative syndrome 1
- c.1634-7C>A Single submitter lymphoproliferative syndrome 1
- c.1791+11G>A Single submitter lymphoproliferative syndrome 1
- c.1791+14G>A Single submitter lymphoproliferative syndrome 1
- c.1791+18T>C Single submitter lymphoproliferative syndrome 1
- c.1791+9A>G Single submitter lymphoproliferative syndrome 1
- c.1792-17C>T Single submitter lymphoproliferative syndrome 1
- c.1792-6C>T Single submitter lymphoproliferative syndrome 1
- c.243+10T>C Single submitter lymphoproliferative syndrome 1
- c.243+14del Single submitter lymphoproliferative syndrome 1
- c.243+16G>T Single submitter lymphoproliferative syndrome 1
- c.243+20A>G Single submitter lymphoproliferative syndrome 1
- c.243+9A>C Single submitter lymphoproliferative syndrome 1
- c.243+9A>G Single submitter lymphoproliferative syndrome 1
- c.244-14G>A Single submitter lymphoproliferative syndrome 1
- c.244-17TG[4] Single submitter lymphoproliferative syndrome 1
- c.244-7T>C Single submitter lymphoproliferative syndrome 1
- c.244-8G>C Single submitter lymphoproliferative syndrome 1
- c.325+10C>T Single submitter lymphoproliferative syndrome 1
- c.326-17G>A Single submitter lymphoproliferative syndrome 1
- c.326-17G>T Single submitter lymphoproliferative syndrome 1
- c.326-9C>T Single submitter lymphoproliferative syndrome 1
- c.454+11G>A Single submitter lymphoproliferative syndrome 1
- c.454+19C>T Single submitter lymphoproliferative syndrome 1
- c.454+9C>G Single submitter lymphoproliferative syndrome 1
- c.455-14T>A Single submitter lymphoproliferative syndrome 1
- c.455-14T>C Single submitter lymphoproliferative syndrome 1
- c.455-16G>T Single submitter lymphoproliferative syndrome 1
- c.455-17T>C Single submitter lymphoproliferative syndrome 1
- c.455-9T>C Single submitter lymphoproliferative syndrome 1
- c.495+11G>C Single submitter lymphoproliferative syndrome 1
- c.495+13G>A Single submitter lymphoproliferative syndrome 1
- c.495+13G>T Single submitter lymphoproliferative syndrome 1
- c.495+16A>G Single submitter lymphoproliferative syndrome 1
- c.495+17G>A Single submitter lymphoproliferative syndrome 1
- c.495+17G>C Single submitter lymphoproliferative syndrome 1
- c.495+20C>T Single submitter lymphoproliferative syndrome 1
- c.496-16T>C Single submitter lymphoproliferative syndrome 1
- c.496-18G>C Single submitter lymphoproliferative syndrome 1
- c.647+10C>A Single submitter lymphoproliferative syndrome 1
- c.647+11T>G Single submitter lymphoproliferative syndrome 1
- c.647+15T>C Single submitter lymphoproliferative syndrome 1
- c.647+16G>A Single submitter lymphoproliferative syndrome 1
- c.647+18C>G Single submitter lymphoproliferative syndrome 1
- c.647+19T>G Single submitter lymphoproliferative syndrome 1
- c.647+20G>A Single submitter lymphoproliferative syndrome 1
- c.647+9T>C Single submitter lymphoproliferative syndrome 1
- c.648-8T>C Single submitter lymphoproliferative syndrome 1
- c.648-9T>C Single submitter lymphoproliferative syndrome 1
- c.713+16T>C Single submitter lymphoproliferative syndrome 1
- c.714-11C>T Single submitter lymphoproliferative syndrome 1
- c.714-12C>T Single submitter lymphoproliferative syndrome 1
- c.714-13T>C Single submitter lymphoproliferative syndrome 1
- c.714-5T>C Single submitter lymphoproliferative syndrome 1
- c.714-9T>C Single submitter lymphoproliferative syndrome 1
- c.768+17T>C Single submitter lymphoproliferative syndrome 1
- c.768+18G>A Single submitter lymphoproliferative syndrome 1
- c.769-19T>C Single submitter lymphoproliferative syndrome 1
- c.769-20A>G Single submitter lymphoproliferative syndrome 1
- c.851+14T>C Single submitter lymphoproliferative syndrome 1
- c.851+18C>T Single submitter lymphoproliferative syndrome 1
- c.851+20C>A Single submitter lymphoproliferative syndrome 1
- c.852-6T>C Single submitter lymphoproliferative syndrome 1
- c.852-7_852-4del Single submitter lymphoproliferative syndrome 1
- c.985+10A>G Single submitter lymphoproliferative syndrome 1
- c.985+19G>T Single submitter lymphoproliferative syndrome 1
- c.985+20T>C Single submitter lymphoproliferative syndrome 1
- c.986-4C>T Single submitter lymphoproliferative syndrome 1
- c.*1083A>G Single submitter lymphoproliferative syndrome 1
- c.*1943T>C Single submitter lymphoproliferative syndrome 1
- c.*492T>C Single submitter lymphoproliferative syndrome 1
- p.Ala105= Single submitter lymphoproliferative syndrome 1
- p.Ala178= Single submitter lymphoproliferative syndrome 1
- p.Ala476= Single submitter lymphoproliferative syndrome 1
- p.Ala604= Single submitter lymphoproliferative syndrome 1
- p.Ala613= Single submitter lymphoproliferative syndrome 1
- p.Ala93= Single submitter lymphoproliferative syndrome 1
- p.Arg101= Single submitter lymphoproliferative syndrome 1
- p.Arg193= Single submitter lymphoproliferative syndrome 1
- p.Arg210= Single submitter lymphoproliferative syndrome 1
- p.Arg29= Single submitter lymphoproliferative syndrome 1
- p.Arg304= Single submitter lymphoproliferative syndrome 1
- p.Arg333= Single submitter lymphoproliferative syndrome 1
- p.Arg342= Single submitter
- p.Arg451= Single submitter lymphoproliferative syndrome 1
- p.Arg481= Single submitter lymphoproliferative syndrome 1
- p.Arg562= Single submitter lymphoproliferative syndrome 1
- p.Arg581= Single submitter lymphoproliferative syndrome 1
- p.Arg602= Single submitter lymphoproliferative syndrome 1
- p.Arg610= Single submitter lymphoproliferative syndrome 1
- p.Asn113= Single submitter lymphoproliferative syndrome 1
- p.Asn195= Single submitter lymphoproliferative syndrome 1
- p.Asn2= Single submitter lymphoproliferative syndrome 1
- p.Asn233= Single submitter lymphoproliferative syndrome 1
- p.Asn286= Single submitter lymphoproliferative syndrome 1
- p.Asn326= Single submitter lymphoproliferative syndrome 1
- p.Asn384= Single submitter lymphoproliferative syndrome 1
- p.Asn493= Single submitter lymphoproliferative syndrome 1
- p.Asp482= Single submitter lymphoproliferative syndrome 1
- p.Asp510= Single submitter lymphoproliferative syndrome 1
- p.Asp570= Single submitter lymphoproliferative syndrome 1
- p.Asp601= Single submitter lymphoproliferative syndrome 1
- p.Asp85= Single submitter lymphoproliferative syndrome 1
- p.Cys133= Single submitter lymphoproliferative syndrome 1
- p.Cys463= Single submitter lymphoproliferative syndrome 1
- p.Gln183= Single submitter lymphoproliferative syndrome 1
- p.Gln511= Single submitter lymphoproliferative syndrome 1
- p.Glu172= Single submitter lymphoproliferative syndrome 1
- p.Glu309= Single submitter lymphoproliferative syndrome 1
- p.Glu427= Single submitter lymphoproliferative syndrome 1
- p.Glu439= Single submitter lymphoproliferative syndrome 1
- p.Glu468= Single submitter lymphoproliferative syndrome 1
- p.Glu56= Single submitter lymphoproliferative syndrome 1
- p.Glu8= Single submitter lymphoproliferative syndrome 1
- p.Gly219= Single submitter lymphoproliferative syndrome 1
- p.Gly260= Single submitter lymphoproliferative syndrome 1
- p.Gly329= Single submitter lymphoproliferative syndrome 1
- p.Gly354= Single submitter lymphoproliferative syndrome 1
- p.Gly396= Single submitter lymphoproliferative syndrome 1
- p.Gly53= Single submitter lymphoproliferative syndrome 1
- p.His217= Single submitter lymphoproliferative syndrome 1
- p.His440= Single submitter lymphoproliferative syndrome 1
- p.His586= Single submitter lymphoproliferative syndrome 1
- p.Ile358= Single submitter lymphoproliferative syndrome 1
- p.Ile479= Single submitter lymphoproliferative syndrome 1
- p.Ile5= Single submitter lymphoproliferative syndrome 1
- p.Ile55= Single submitter lymphoproliferative syndrome 1
- p.Ile557= Single submitter lymphoproliferative syndrome 1
- p.Ile571= Single submitter lymphoproliferative syndrome 1
- p.Leu136= Single submitter lymphoproliferative syndrome 1
- p.Leu179= Single submitter lymphoproliferative syndrome 1
- p.Leu190= Single submitter lymphoproliferative syndrome 1
- p.Leu201= Single submitter lymphoproliferative syndrome 1
- p.Leu226= Single submitter lymphoproliferative syndrome 1
- p.Leu253= Single submitter lymphoproliferative syndrome 1
- p.Leu33= Single submitter lymphoproliferative syndrome 1
- p.Leu351= Single submitter lymphoproliferative syndrome 1
- p.Leu363= Single submitter lymphoproliferative syndrome 1
- p.Leu379= Single submitter lymphoproliferative syndrome 1
- p.Leu38= Single submitter lymphoproliferative syndrome 1
- p.Leu383= Single submitter lymphoproliferative syndrome 1
- p.Leu421= Single submitter lymphoproliferative syndrome 1
- p.Leu460= Single submitter lymphoproliferative syndrome 1
- p.Leu473= Single submitter lymphoproliferative syndrome 1
- p.Leu508= Single submitter lymphoproliferative syndrome 1
- p.Leu57= Single submitter
- p.Leu577= Single submitter lymphoproliferative syndrome 1
- p.Leu89= Single submitter lymphoproliferative syndrome 1
- p.Lys138= Single submitter lymphoproliferative syndrome 1
- p.Lys280= Single submitter lymphoproliferative syndrome 1
- p.Lys291= Single submitter lymphoproliferative syndrome 1
- p.Lys355= Single submitter lymphoproliferative syndrome 1
- p.Phe340Ser Single submitter Inborn genetic diseases
- p.Phe530= Single submitter lymphoproliferative syndrome 1
- p.Phe532= Single submitter lymphoproliferative syndrome 1
- p.Phe92= Single submitter lymphoproliferative syndrome 1
- p.Pro156= Single submitter lymphoproliferative syndrome 1
- p.Pro158= Single submitter lymphoproliferative syndrome 1
- p.Pro167= Single submitter lymphoproliferative syndrome 1
- p.Pro558= Single submitter lymphoproliferative syndrome 1
- p.Pro73= Single submitter lymphoproliferative syndrome 1
- p.Pro94= Single submitter lymphoproliferative syndrome 1
- p.Ser134= Single submitter lymphoproliferative syndrome 1
- p.Ser203= Single submitter lymphoproliferative syndrome 1
- p.Ser24= Single submitter lymphoproliferative syndrome 1
- p.Ser276= Single submitter lymphoproliferative syndrome 1
- p.Ser444= Single submitter lymphoproliferative syndrome 1
- p.Ser539= Single submitter lymphoproliferative syndrome 1
- p.Ser565= Single submitter lymphoproliferative syndrome 1
- p.Ser572= Single submitter lymphoproliferative syndrome 1
- p.Ser58= Single submitter lymphoproliferative syndrome 1
- p.Ter621= Single submitter lymphoproliferative syndrome 1
- p.Thr141= Single submitter lymphoproliferative syndrome 1
- p.Thr269= Single submitter lymphoproliferative syndrome 1
- p.Thr274= Single submitter lymphoproliferative syndrome 1
- p.Thr348= Single submitter lymphoproliferative syndrome 1
- p.Thr50= Single submitter lymphoproliferative syndrome 1
- p.Thr516= Single submitter lymphoproliferative syndrome 1
- p.Thr518= Single submitter lymphoproliferative syndrome 1
- p.Thr573= Single submitter lymphoproliferative syndrome 1
- p.Tyr305= Single submitter lymphoproliferative syndrome 1
- p.Val175= Single submitter lymphoproliferative syndrome 1
- p.Val211= Single submitter lymphoproliferative syndrome 1
- p.Val227= Single submitter lymphoproliferative syndrome 1
- p.Val264= Single submitter lymphoproliferative syndrome 1
- p.Val331= Single submitter lymphoproliferative syndrome 1
- p.Val377= Single submitter lymphoproliferative syndrome 1
- p.Val434= Single submitter lymphoproliferative syndrome 1
- p.Val466= Single submitter lymphoproliferative syndrome 1
- p.Val568= Single submitter lymphoproliferative syndrome 1
- p.Val63= Single submitter lymphoproliferative syndrome 1
- p.Val66= Single submitter lymphoproliferative syndrome 1
- p.Val83= Single submitter lymphoproliferative syndrome 1
- c.1061-19CT[6] No assertion criteria ITK-related disorder
Uncertain significance 271
- c.768+3A>G Multiple submitters lymphoproliferative syndrome 1
- c.851+5G>A Multiple submitters lymphoproliferative syndrome 1
- p.Ala191Thr Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Ala261Thr Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Ala308Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala345Val Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Ala471Thr Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Ala525Thr Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Ala583Val Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Arg246Gln Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Arg304Gln Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Arg448His Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Arg451Trp Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Arg534His Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Arg96His Multiple submitters ITK-related disorder ⚠
- p.Arg96Pro Multiple submitters autoinflammatory syndrome ⚠
- p.Asp314His Multiple submitters ITK-related disorder ⚠
- p.Gln428Lys Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Glu196Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly354Arg Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.His378Arg Multiple submitters Inborn genetic diseases ⚠
- p.His586Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ile290Leu Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Ile571Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile590Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu136Pro Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Leu612Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys385Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys412Arg Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Met126Ile Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Phe530Val Multiple submitters autoinflammatory syndrome ⚠
- p.Ser223Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser361Leu Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Ser572Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr256Ile Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Thr348Arg Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Thr348Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr364Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr50Met Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Tyr180Cys Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Tyr588His Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Val103Met Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Val282Ile Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Val357Met Multiple submitters lymphoproliferative syndrome 1 ⚠
- p.Val498Leu Multiple submitters lymphoproliferative syndrome 1 ⚠
- c.1061-1G>A Single submitter ITK-related disorder
- c.138+4T>C Single submitter lymphoproliferative syndrome 1
- c.139-3C>T Single submitter lymphoproliferative syndrome 1
- c.1449+14G>A Single submitter lymphoproliferative syndrome 1
- c.1449+4T>C Single submitter autoimmune lymphoproliferative syndrome type 1
- c.1791+5G>A Single submitter lymphoproliferative syndrome 1
- c.1792-3C>T Single submitter lymphoproliferative syndrome 1
- c.243+5G>A Single submitter lymphoproliferative syndrome 1
- c.326-10C>G Single submitter lymphoproliferative syndrome 1
- c.326-18G>A Single submitter lymphoproliferative syndrome 1
- c.495+3G>A Single submitter lymphoproliferative syndrome 1
- c.713+6A>T Single submitter lymphoproliferative syndrome 1
- c.714-3C>T Single submitter lymphoproliferative syndrome 1
- c.986-10A>G Single submitter lymphoproliferative syndrome 1
- c.986-5_986-2del Single submitter lymphoproliferative syndrome 1
- c.-95A>G Single submitter lymphoproliferative syndrome 1
- c.*1132A>T Single submitter lymphoproliferative syndrome 1
- c.*1152G>T Single submitter lymphoproliferative syndrome 1
- c.*1154T>A Single submitter lymphoproliferative syndrome 1
- c.*1171G>C Single submitter lymphoproliferative syndrome 1
- c.*1177A>G Single submitter lymphoproliferative syndrome 1
- c.*1252A>G Single submitter lymphoproliferative syndrome 1
- c.*1255C>T Single submitter lymphoproliferative syndrome 1
- c.*1398G>A Single submitter lymphoproliferative syndrome 1
- c.*140C>T Single submitter lymphoproliferative syndrome 1
- c.*1490G>A Single submitter lymphoproliferative syndrome 1
- c.*1619G>A Single submitter lymphoproliferative syndrome 1
- c.*1755T>C Single submitter lymphoproliferative syndrome 1
- c.*1761T>A Single submitter lymphoproliferative syndrome 1
- c.*1767C>A Single submitter lymphoproliferative syndrome 1
- c.*1859C>T Single submitter lymphoproliferative syndrome 1
- c.*1928G>A Single submitter lymphoproliferative syndrome 1
- c.*1945T>C Single submitter lymphoproliferative syndrome 1
- c.*210G>A Single submitter lymphoproliferative syndrome 1
- c.*214A>C Single submitter lymphoproliferative syndrome 1
- c.*2191C>T Single submitter lymphoproliferative syndrome 1
- c.*232G>A Single submitter lymphoproliferative syndrome 1
- c.*553C>T Single submitter lymphoproliferative syndrome 1
- c.*554G>A Single submitter lymphoproliferative syndrome 1
- c.*664G>A Single submitter lymphoproliferative syndrome 1
- c.*672T>C Single submitter lymphoproliferative syndrome 1
- c.*706G>C Single submitter lymphoproliferative syndrome 1
- c.*72A>G Single submitter lymphoproliferative syndrome 1
- c.*85A>C Single submitter lymphoproliferative syndrome 1
- c.*873C>T Single submitter lymphoproliferative syndrome 1
- c.*941C>T Single submitter lymphoproliferative syndrome 1
- c.*944C>T Single submitter lymphoproliferative syndrome 1
- c.*9G>A Single submitter lymphoproliferative syndrome 1
- p.Ala140Thr Single submitter ⚠
- p.Ala261Asp Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ala261Gly Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ala281Ser Single submitter Inborn genetic diseases ⚠
- p.Ala345Ser Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ala39Ser Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ala407Ser Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ala455Pro Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ala471Val Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ala604Asp Single submitter Inborn genetic diseases ⚠
- p.Ala616Ser Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg101His Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg111Lys Single submitter Inborn genetic diseases ⚠
- p.Arg165Ser Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg166Gln Single submitter Inborn genetic diseases ⚠
- p.Arg166Gly Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg193Trp Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg194Cys Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg194His Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg214Gly Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg29Cys Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg335Gln Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg394Trp Single submitter ⚠
- p.Arg448Cys Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg448Gly Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg448Pro Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg44Cys Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg44His Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg49Cys Single submitter Inborn genetic diseases ⚠
- p.Arg49His Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg562Gln Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg581Gln Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg581Gly Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg59Gln Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg602Gln Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg602Leu Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg602Trp Single submitter Inborn genetic diseases ⚠
- p.Arg610His Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg96Cys Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg96Gly Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg96Ser Single submitter Inborn genetic diseases ⚠
- p.Arg99Gln Single submitter lymphoproliferative syndrome 1 ⚠
- p.Arg99Trp Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asn114His Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asn164Lys Single submitter Inborn genetic diseases ⚠
- p.Asn164Thr Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asn195His Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asn232Ser Single submitter Inborn genetic diseases ⚠
- p.Asn286Lys Single submitter Inborn genetic diseases ⚠
- p.Asn286Thr Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asn287Asp Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asp147Asn Single submitter autoinflammatory syndrome ⚠
- p.Asp147His Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asp163His Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asp247Glu Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asp255Glu Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asp255Val Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asp266His Single submitter ⚠
- p.Asp314Asn Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asp359Gly Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asp445Glu Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asp465Ala Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asp465Asn Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asp510Val Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asp540Asn Single submitter lymphoproliferative syndrome 1 ⚠
- p.Asp570Gly Single submitter lymphoproliferative syndrome 1 ⚠
- p.Cys339Ser Single submitter lymphoproliferative syndrome 1 ⚠
- p.Cys432Ser Single submitter lymphoproliferative syndrome 1 ⚠
- p.Gln145Arg Single submitter lymphoproliferative syndrome 1 ⚠
- p.Gln17Lys Single submitter lymphoproliferative syndrome 1 ⚠
- p.Gln428Arg Single submitter lymphoproliferative syndrome 1 ⚠
- p.Glu108Gly Single submitter lymphoproliferative syndrome 1 ⚠
- p.Glu137Val Single submitter lymphoproliferative syndrome 1 ⚠
- p.Glu196Lys Single submitter lymphoproliferative syndrome 1 ⚠
- p.Glu218Gly Single submitter Inborn genetic diseases ⚠
- p.Glu238Ala Single submitter lymphoproliferative syndrome 1 ⚠
- p.Glu457Asp Single submitter lymphoproliferative syndrome 1 ⚠
- p.Glu569Lys Single submitter lymphoproliferative syndrome 1 ⚠
- p.Glu617Ala Single submitter lymphoproliferative syndrome 1 ⚠
- p.Glu9Gly Single submitter lymphoproliferative syndrome 1 ⚠
- p.Gly219Ala Single submitter lymphoproliferative syndrome 1 ⚠
- p.Gly350Arg Single submitter lymphoproliferative syndrome 1 ⚠
- p.Gly354Glu Single submitter ITK-related disorder ⚠
- p.Gly375Val Single submitter lymphoproliferative syndrome 1 ⚠
- p.Gly441Ser Single submitter lymphoproliferative syndrome 1 ⚠
- p.Gly452Arg Single submitter lymphoproliferative syndrome 1 ⚠
- p.Gly46Glu Single submitter Inborn genetic diseases ⚠
- p.Gly517Asp Single submitter lymphoproliferative syndrome 1 ⚠
- p.Gly574Arg Single submitter Inborn genetic diseases ⚠
- p.His325Tyr Single submitter lymphoproliferative syndrome 1 ⚠
- p.His45Leu Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ile177Thr Single submitter ⚠
- p.Ile177Val Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ile290Val Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ile316Val Single submitter Inborn genetic diseases ⚠
- p.Ile358Met Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ile393Val Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ile404Thr Single submitter Inborn genetic diseases ⚠
- p.Ile404Val Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ile55Thr Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ile590Leu Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ile65Thr Single submitter lymphoproliferative syndrome 1 ⚠
- p.Leu226Val Single submitter lymphoproliferative syndrome 1 ⚠
- p.Leu234= Single submitter lymphoproliferative syndrome 1
- p.Leu253Pro Single submitter lymphoproliferative syndrome 1 ⚠
- p.Leu351Arg Single submitter lymphoproliferative syndrome 1 ⚠
- p.Leu483Met Single submitter lymphoproliferative syndrome 1 ⚠
- p.Lys129Arg Single submitter lymphoproliferative syndrome 1 ⚠
- p.Lys150Asn Single submitter lymphoproliferative syndrome 1 ⚠
- p.Lys242Arg Single submitter lymphoproliferative syndrome 1 ⚠
- p.Lys291Asn Single submitter lymphoproliferative syndrome 1 ⚠
- p.Lys303Asn Single submitter lymphoproliferative syndrome 1 ⚠
- p.Lys355Glu Single submitter lymphoproliferative syndrome 1 ⚠
- p.Lys417Thr Single submitter lymphoproliferative syndrome 1 ⚠
- p.Lys47Asn Single submitter lymphoproliferative syndrome 1 ⚠
- p.Lys48Met Single submitter lymphoproliferative syndrome 1 ⚠
- p.Lys48Thr Single submitter lymphoproliferative syndrome 1 ⚠
- p.Lys579Arg Single submitter lymphoproliferative syndrome 1 ⚠
- p.Met1Thr Single submitter lymphoproliferative syndrome 1
- p.Met263Ile Single submitter Inborn genetic diseases ⚠
- p.Met410Thr Single submitter lymphoproliferative syndrome 1 ⚠
- p.Met411Thr Single submitter lymphoproliferative syndrome 1 ⚠
- p.Met438Leu Single submitter lymphoproliferative syndrome 1 ⚠
- p.Met470Val Single submitter lymphoproliferative syndrome 1 ⚠
- p.Met548Thr Single submitter lymphoproliferative syndrome 1 ⚠
- p.Phe124Leu Single submitter lymphoproliferative syndrome 1 ⚠
- p.Phe31Leu Single submitter lymphoproliferative syndrome 1 ⚠
- p.Phe454Ser Single submitter lymphoproliferative syndrome 1 ⚠
- p.Phe4Leu Single submitter lymphoproliferative syndrome 1 ⚠
- p.Phe506Leu Single submitter Inborn genetic diseases ⚠
- p.Pro122Thr Single submitter lymphoproliferative syndrome 1 ⚠
- p.Pro167Leu Single submitter Inborn genetic diseases ⚠
- p.Pro167Thr Single submitter lymphoproliferative syndrome 1 ⚠
- p.Pro187Ser Single submitter autoinflammatory syndrome ⚠
- p.Pro521Leu Single submitter lymphoproliferative syndrome 1 ⚠
- p.Pro521Ser Single submitter
- p.Pro558Leu Single submitter lymphoproliferative syndrome 1 ⚠
- p.Pro580Ser Single submitter lymphoproliferative syndrome 1 ⚠
- p.Pro599Ser Single submitter Inborn genetic diseases ⚠
- p.Pro603Arg Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ser115Asn Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ser243Cys Single submitter Inborn genetic diseases ⚠
- p.Ser371Asn Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ser515Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser526Pro Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ser526Tyr Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ser54Thr Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ser553Asn Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ser71Asn Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ser71Thr Single submitter lymphoproliferative syndrome 1 ⚠
- p.Ter621Gln Single submitter lymphoproliferative syndrome 1
- p.Thr110Met Single submitter lymphoproliferative syndrome 1 ⚠
- p.Thr160Ser Single submitter Inborn genetic diseases ⚠
- p.Trp209del Single submitter lymphoproliferative syndrome 1
- p.Tyr220Cys Single submitter lymphoproliferative syndrome 1 ⚠
- p.Tyr225Cys Single submitter lymphoproliferative syndrome 1 ⚠
- p.Tyr353= Single submitter lymphoproliferative syndrome 1
- p.Tyr446Phe Single submitter lymphoproliferative syndrome 1 ⚠
- p.Tyr472His Single submitter lymphoproliferative syndrome 1 ⚠
- p.Tyr578Cys Single submitter lymphoproliferative syndrome 1 ⚠
- p.Tyr578His Single submitter lymphoproliferative syndrome 1 ⚠
- p.Tyr76His Single submitter lymphoproliferative syndrome 1 ⚠
- p.Val176Ile Single submitter lymphoproliferative syndrome 1 ⚠
- p.Val211Ile Single submitter lymphoproliferative syndrome 1 ⚠
- p.Val264Ile Single submitter lymphoproliferative syndrome 1 ⚠
- p.Val275Met Single submitter lymphoproliferative syndrome 1 ⚠
- p.Val282Leu Single submitter lymphoproliferative syndrome 1 ⚠
- p.Val28Phe Single submitter lymphoproliferative syndrome 1 ⚠
- p.Val312Ala Single submitter lymphoproliferative syndrome 1 ⚠
- p.Val347Ile Single submitter lymphoproliferative syndrome 1 ⚠
- p.Val357Gly Single submitter Inborn genetic diseases ⚠
- p.Val388Met Single submitter Inborn genetic diseases ⚠
- p.Val419Met Single submitter lymphoproliferative syndrome 1 ⚠
- p.Val522Ala Single submitter lymphoproliferative syndrome 1 ⚠
- p.Val551Leu Single submitter Inborn genetic diseases ⚠
- p.Leu577Trp No assertion criteria ⚠
- p.Phe520Leu No assertion criteria ⚠
- p.Tyr240Cys No assertion criteria lymphoproliferative syndrome 1 ⚠