RAG1 — 922 ClinVar variants

Pathogenic 77

• p.Ala444Val Expert panel recombinase activating gene 1 deficiency
• p.Arg108Ter Expert panel recombinase activating gene 1 deficiency
• p.Arg142Ter Expert panel recombinase activating gene 1 deficiency
• p.Arg394Trp Expert panel recombinase activating gene 1 deficiency
• p.Arg396His Expert panel recombinase activating gene 1 deficiency
• p.Arg404Gln Expert panel recombinase activating gene 1 deficiency ⚠
• p.Arg561Cys Expert panel recombinase activating gene 1 deficiency ⚠
• p.Arg829_Lys830delinsSerTer Expert panel recombinase activating gene 1 deficiency
• p.Arg897Ter Expert panel recombinase activating gene 1 deficiency
• p.Lys86fs Expert panel recombinase activating gene 1 deficiency
• p.Met977fs Expert panel recombinase activating gene 1 deficiency
• p.Ser259fs Expert panel recombinase activating gene 1 deficiency
• p.Trp204Ter Expert panel recombinase activating gene 1 deficiency
• p.Trp959Ter Expert panel recombinase activating gene 1 deficiency
• p.Tyr333Ter Expert panel recombinase activating gene 1 deficiency
• p.Arg396Cys Multiple submitters RAG1-related disorder
• p.Arg474Cys Multiple submitters Autosomal recessive RAG1-related disorders
• p.Arg474His Multiple submitters combined immunodeficiency with skin granulomas
• p.Arg624Cys Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg778Gln Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg778Trp Multiple submitters combined immunodeficiency with skin granulomas
• p.Arg841Trp Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gln231Ter Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu174fs Multiple submitters RAG1-related disorder
• p.Ile538fs Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ile956Thr Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Lys992Glu Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Trp522Cys Multiple submitters RAG1-related disorder
• p.Ala622fs Single submitter combined immunodeficiency with skin granulomas
• p.Ala673fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ala804fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg559Ser Single submitter combined immunodeficiency with skin granulomas
• p.Arg559Trp Single submitter combined immunodeficiency with skin granulomas
• p.Arg751fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Asn968fs Single submitter combined immunodeficiency with skin granulomas
• p.Asp121fs Single submitter combined immunodeficiency with skin granulomas
• p.Asp587fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Cys313fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gln19fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gln78Ter Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gln812Ter Single submitter combined immunodeficiency with skin granulomas
• p.Glu366Ter Single submitter combined immunodeficiency with skin granulomas
• p.Glu510Ter Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu575Ter Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu600fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu689Ter Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu817Ter Single submitter combined immunodeficiency with skin granulomas
• p.Glu827fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu876fs Single submitter combined immunodeficiency with skin granulomas
• p.Gly135_Lys136insTer Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gly220fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gly854fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.His249fs Single submitter
• p.Ile102fs Single submitter combined immunodeficiency with skin granulomas
• p.Leu678fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu732_Cys733insTer Single submitter combined immunodeficiency with skin granulomas
• p.Leu872Ter Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Lys186fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Lys222fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Lys383fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Lys90fs Single submitter combined immunodeficiency with skin granulomas
• p.Met487Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Phe118fs Single submitter combined immunodeficiency with skin granulomas
• p.Pro337fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ser875fs Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Ser961fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Thr925delinsPhePhePhePhePhePheXaaXaaXaaXaaSerIleSerTer Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Tyr551Ter Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Tyr912_Ser913delinsTer Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Val323fs Single submitter
• p.Val350fs Single submitter
• p.Val433fs Single submitter combined immunodeficiency with skin granulomas
• p.Val643fs Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Asp429Gly No assertion criteria Omenn syndrome
• p.Gln981Pro No assertion criteria combined immunodeficiency due to partial RAG1 deficiency ⚠
• p.Leu541fs No assertion criteria combined immunodeficiency with skin granulomas
• p.Tyr912Cys No assertion criteria Omenn syndrome

Pathogenic/Likely pathogenic 38

• p.Ala246fs Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ala456fs Multiple submitters combined immunodeficiency with skin granulomas
• p.Ala69fs Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg404Trp Multiple submitters severe combined immunodeficiency
• p.Arg410Gln Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg410Trp Multiple submitters severe combined immunodeficiency
• p.Arg561His Multiple submitters RAG1-related disorder ⚠
• p.Arg624His Multiple submitters combined immunodeficiency with skin granulomas
• p.Arg716Trp Multiple submitters combined immunodeficiency due to partial RAG1 deficiency
• p.Arg737Cys Multiple submitters combined immunodeficiency with skin granulomas
• p.Arg737His Multiple submitters Inherited Immunodeficiency Diseases
• p.Arg776Gln Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg776Trp Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg841Gln Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg973Cys Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg973His Multiple submitters severe combined immunodeficiency
• p.Arg975Gln Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg975Trp Multiple submitters RAG1-related disorder ⚠
• p.Asn743fs Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Cys328Tyr Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Cys730Phe Multiple submitters combined immunodeficiency with skin granulomas
• p.Cys733Ter Multiple submitters combined immunodeficiency with skin granulomas
• p.Gln501Ter Multiple submitters combined immunodeficiency with skin granulomas
• p.Glu669Lys Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu722Lys Multiple submitters RAG1-related disorder
• p.Glu774Ter Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu817fs Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ile113fs Multiple submitters RAG1-related disorder
• p.Ile950fs Multiple submitters combined immunodeficiency with skin granulomas
• p.Leu236fs Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Lys830Ter Multiple submitters RAG1-related disorder
• p.Met435Val Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Ser783Ter Multiple submitters combined immunodeficiency due to partial RAG1 deficiency
• p.Trp204fs Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Trp522Ter Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Tyr589Ter Multiple submitters combined immunodeficiency with skin granulomas
• p.Val433Met Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Val715fs Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

Likely pathogenic 52

• p.Arg394Gln Expert panel recombinase activating gene 1 deficiency
• p.Arg699Trp Expert panel recombinase activating gene 1 deficiency
• p.Arg716Gln Expert panel recombinase activating gene 1 deficiency
• p.Tyr938Ter Expert panel recombinase activating gene 1 deficiency
• p.Arg699Gln Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg759Cys Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.His379fs Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu454Gln Multiple submitters combined immunodeficiency with skin granulomas
• p.Trp180Ter Multiple submitters combined immunodeficiency with skin granulomas
• p.Val782Asp Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ala565fs Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Ala804Val Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Arg396fs Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Arg973Pro Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg973Ser Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Asn124fs Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Asn528fs Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Cys335Arg Single submitter RAG1-related disorder
• p.Cys358Tyr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Cys470fs Single submitter Omenn syndrome
• p.Gln407Ter Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Gln450Ter Single submitter combined immunodeficiency with skin granulomas
• p.Gln61Ter Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Gln833Ter Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Gln917Ter Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Glu362_Cys363insTer Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Glu54Ter Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Glu669Gly Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu755Ter Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Gly131fs Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Gly392Arg Single submitter Omenn syndrome
• p.Gly709Ser Single submitter combined immunodeficiency with skin granulomas
• p.His798Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ile473Asn Single submitter RAG1-related disorder ⚠
• p.Ile632fs Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Ile679_Arg682delinsSerAsnAlaTer Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Ile935fs Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Leu107fs Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Leu140fs Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Leu141fs Single submitter RAG1-related disorder
• p.Leu274fs Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Leu411Pro Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Lys47fs Single submitter RAG1-related disorder
• p.Lys86Ter Single submitter Omenn syndrome
• p.Met263fs Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Phe927Ser Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ser401Pro Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Thr925delinsPhePhePhePhePhePhePhePhePhePhePhePhePhePheLeuArgArgSerLeuAlaLeuSerProArgProAspCysGlyLeuGlnTrpArgAsnLeuGlySerLeuGlnAlaProLeuProGlyPheThrProPheSerCysLeuSerLeuProSerSerTrpAspTyrArgArgProProProArgProAlaAsnPheLeuTyrPheTer Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Trp896Ter Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Tyr728His Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Tyr985Cys Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Gln407Glu No assertion criteria severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

Conflicting classifications of pathogenicity 31

• p.Ala456Asp Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ala857= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg112Cys Single submitter Inherited Immunodeficiency Diseases ⚠
• p.Arg112His Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
• p.Arg126= Single submitter combined immunodeficiency with skin granulomas
• p.Arg198= Single submitter Omenn syndrome
• p.Arg247His Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Arg314Trp Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg332Ter Single submitter combined immunodeficiency with skin granulomas
• p.Arg507Gln Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg507Trp Single submitter combined immunodeficiency due to partial RAG1 deficiency ⚠
• p.Asn199= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Asn855Ser Single submitter ⚠
• p.Asp16Gly Single submitter Inborn genetic diseases ⚠
• p.Cys192Tyr Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Gly393Val Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Gly540Arg Single submitter cataract 3 multiple types ⚠
• p.Gly933= Single submitter Omenn syndrome
• p.His753Arg Single submitter combined immunodeficiency due to partial RAG1 deficiency ⚠
• p.His753Leu Single submitter combined immunodeficiency due to partial RAG1 deficiency ⚠
• p.His92= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.His994Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ile385Thr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Leu1025fs Single submitter combined immunodeficiency due to partial RAG1 deficiency
• p.Lys277= Single submitter Omenn syndrome
• p.Met1006Val Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Met661del Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Pro619Leu Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Ser169Leu Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Ser480Gly Single submitter RAG1-related disorder ⚠
• p.Thr403Ile Single submitter combined immunodeficiency with skin granulomas ⚠

Benign 23

• p.Ala101= Expert panel recombinase activating gene 1 deficiency
• p.Arg449Lys Expert panel recombinase activating gene 1 deficiency
• p.Asp302Glu Expert panel recombinase activating gene 1 deficiency ⚠
• p.Glu193Lys Expert panel recombinase activating gene 1 deficiency
• p.Glu880Lys Expert panel recombinase activating gene 1 deficiency
• p.His249Arg Expert panel recombinase activating gene 1 deficiency
• p.His84Arg Expert panel recombinase activating gene 1 deficiency
• p.Lys820Arg Expert panel recombinase activating gene 1 deficiency
• p.Pro525Ser Expert panel recombinase activating gene 1 deficiency
• c.-65A>G Multiple submitters Omenn syndrome
• c.*1083C>T Multiple submitters Omenn syndrome
• c.*2246T>C Multiple submitters Omenn syndrome
• c.*3184G>A Multiple submitters Omenn syndrome
• p.His249= Multiple submitters combined immunodeficiency with skin granulomas
• c.*1178G>A Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*1366A>G Single submitter Omenn syndrome
• c.*1978C>T Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*2530G>T Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*2599A>C Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*2654A>G Single submitter Omenn syndrome
• c.*398G>A Single submitter Omenn syndrome
• c.*589G>A Single submitter Omenn syndrome
• p.Thr936= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

Benign/Likely benign 4

• p.Ala960= Multiple submitters combined immunodeficiency with skin granulomas
• p.Glu817= Multiple submitters combined immunodeficiency with skin granulomas
• p.Leu526= Multiple submitters combined immunodeficiency with skin granulomas
• p.Tyr985= Multiple submitters combined immunodeficiency with skin granulomas

Likely benign 290

• p.Asp162Glu Expert panel recombinase activating gene 1 deficiency ⚠
• p.Asp887Asn Expert panel recombinase activating gene 1 deficiency
• p.Gln242Arg Expert panel recombinase activating gene 1 deficiency
• p.Gln917= Expert panel recombinase activating gene 1 deficiency
• p.Ala444= Multiple submitters combined immunodeficiency with skin granulomas
• p.Ala622= Multiple submitters combined immunodeficiency with skin granulomas
• p.Asp607= Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu174= Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu600= Multiple submitters combined immunodeficiency with skin granulomas
• p.Gly963= Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gly99Ser Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.His20= Multiple submitters combined immunodeficiency with skin granulomas
• p.His207= Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.His879= Multiple submitters combined immunodeficiency with skin granulomas
• p.Leu399= Multiple submitters combined immunodeficiency with skin granulomas
• p.Ser349= Multiple submitters combined immunodeficiency with skin granulomas
• p.Thr555= Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Thr925= Multiple submitters combined immunodeficiency with skin granulomas
• c.-15+12A>G Single submitter Omenn syndrome
• c.*1307C>T Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*3156A>G Single submitter Omenn syndrome
• p.Ala1011= Single submitter combined immunodeficiency with skin granulomas
• p.Ala1023= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ala105= Single submitter combined immunodeficiency with skin granulomas
• p.Ala156= Single submitter combined immunodeficiency with skin granulomas
• p.Ala165= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ala190= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ala246Val Single submitter
• p.Ala280= Single submitter combined immunodeficiency with skin granulomas
• p.Ala3= Single submitter combined immunodeficiency with skin granulomas
• p.Ala420= Single submitter combined immunodeficiency with skin granulomas
• p.Ala422= Single submitter combined immunodeficiency with skin granulomas
• p.Ala45= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ala451= Single submitter
• p.Ala472= Single submitter combined immunodeficiency with skin granulomas
• p.Ala635= Single submitter combined immunodeficiency with skin granulomas
• p.Ala663= Single submitter combined immunodeficiency with skin granulomas
• p.Ala805= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ala944= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ala958= Single submitter combined immunodeficiency with skin granulomas
• p.Ala97= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg108= Single submitter combined immunodeficiency with skin granulomas
• p.Arg125= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg142= Single submitter combined immunodeficiency with skin granulomas
• p.Arg223= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg247= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg251= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg252= Single submitter combined immunodeficiency with skin granulomas
• p.Arg332= Single submitter combined immunodeficiency with skin granulomas
• p.Arg34= Single submitter combined immunodeficiency with skin granulomas
• p.Arg36= Single submitter combined immunodeficiency with skin granulomas
• p.Arg396= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg405= Single submitter combined immunodeficiency with skin granulomas
• p.Arg412= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg443= Single submitter combined immunodeficiency with skin granulomas
• p.Arg445= Single submitter combined immunodeficiency with skin granulomas
• p.Arg507= Single submitter combined immunodeficiency with skin granulomas
• p.Arg559= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg582= Single submitter combined immunodeficiency with skin granulomas
• p.Arg706= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg776= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg778= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Arg851= Single submitter combined immunodeficiency with skin granulomas
• p.Arg975= Single submitter combined immunodeficiency with skin granulomas
• p.Asn1007Lys Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Asn1020= Single submitter combined immunodeficiency with skin granulomas
• p.Asn215= Single submitter combined immunodeficiency with skin granulomas
• p.Asn268= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Asn476= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Asn508= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Asn821= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Asn915= Single submitter combined immunodeficiency with skin granulomas
• p.Asn94= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Asn968= Single submitter combined immunodeficiency with skin granulomas
• p.Asp1027= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Asp162= Single submitter combined immunodeficiency with skin granulomas
• p.Asp166= Single submitter combined immunodeficiency with skin granulomas
• p.Asp302= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Asp534= Single submitter
• p.Asp603= Single submitter combined immunodeficiency with skin granulomas
• p.Asp711= Single submitter
• p.Asp734= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Asp887= Single submitter combined immunodeficiency with skin granulomas
• p.Asp989= Single submitter combined immunodeficiency with skin granulomas
• p.Cys211= Single submitter combined immunodeficiency with skin granulomas
• p.Cys296= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Cys308= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Cys331= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Cys470= Single submitter combined immunodeficiency with skin granulomas
• p.Cys900= Single submitter combined immunodeficiency with skin granulomas
• p.Cys905= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Cys910= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu1032= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu1042= Single submitter combined immunodeficiency with skin granulomas
• p.Glu193= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu39= Single submitter combined immunodeficiency with skin granulomas
• p.Glu413= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu43= Single submitter combined immunodeficiency with skin granulomas
• p.Glu54= Single submitter combined immunodeficiency with skin granulomas
• p.Glu758= Single submitter combined immunodeficiency with skin granulomas
• p.Glu806= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu827= Single submitter combined immunodeficiency with skin granulomas
• p.Glu884= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu921= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Glu932= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gly1016= Single submitter combined immunodeficiency with skin granulomas
• p.Gly1026= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gly220= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gly325Asp Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Gly460= Single submitter combined immunodeficiency with skin granulomas
• p.Gly462= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gly464= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gly496= Single submitter combined immunodeficiency with skin granulomas
• p.Gly536= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gly696= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gly71= Single submitter combined immunodeficiency with skin granulomas
• p.Gly720= Single submitter combined immunodeficiency with skin granulomas
• p.Gly781= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gly802= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gly816= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Gly99= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.His184Tyr Single submitter Inborn genetic diseases
• p.His205= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.His22= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.His273= Single submitter combined immunodeficiency with skin granulomas
• p.His409= Single submitter combined immunodeficiency with skin granulomas
• p.His518= Single submitter combined immunodeficiency with skin granulomas
• p.His612= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.His668= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.His769= Single submitter combined immunodeficiency with skin granulomas
• p.His84= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.His945= Single submitter combined immunodeficiency with skin granulomas
• p.Ile161= Single submitter combined immunodeficiency with skin granulomas
• p.Ile182= Single submitter combined immunodeficiency with skin granulomas
• p.Ile266= Single submitter combined immunodeficiency with skin granulomas
• p.Ile457= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ile629Val Single submitter Inborn genetic diseases
• p.Ile634= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ile704= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ile935= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu1035= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu107= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu138= Single submitter combined immunodeficiency with skin granulomas
• p.Leu140= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu154= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu221= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu230= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu278= Single submitter combined immunodeficiency with skin granulomas
• p.Leu318= Single submitter combined immunodeficiency with skin granulomas
• p.Leu321= Single submitter combined immunodeficiency with skin granulomas
• p.Leu340= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu348= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu354= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu402= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu411= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu416= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu437= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu439= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu440= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu442= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu465= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu471= Single submitter combined immunodeficiency with skin granulomas
• p.Leu514= Single submitter combined immunodeficiency with skin granulomas
• p.Leu541= Single submitter combined immunodeficiency with skin granulomas
• p.Leu544= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu566= Single submitter combined immunodeficiency with skin granulomas
• p.Leu570= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu578= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu59= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu590= Single submitter combined immunodeficiency with skin granulomas
• p.Leu658= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu66= Single submitter combined immunodeficiency with skin granulomas
• p.Leu660= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu671= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu692= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu694= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu721= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu732= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu757= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu775= Single submitter combined immunodeficiency with skin granulomas
• p.Leu797= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu80= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu81= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu813= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu836= Single submitter combined immunodeficiency with skin granulomas
• p.Leu840= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu860= Single submitter combined immunodeficiency with skin granulomas
• p.Leu882= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu890= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu9= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu970= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu996= Single submitter combined immunodeficiency with skin granulomas
• p.Lys1004= Single submitter combined immunodeficiency with skin granulomas
• p.Lys144= Single submitter combined immunodeficiency with skin granulomas
• p.Lys186= Single submitter combined immunodeficiency with skin granulomas
• p.Lys250= Single submitter combined immunodeficiency with skin granulomas
• p.Lys40= Single submitter combined immunodeficiency with skin granulomas
• p.Lys50= Single submitter combined immunodeficiency with skin granulomas
• p.Lys713= Single submitter combined immunodeficiency with skin granulomas
• p.Lys73= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Lys830= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Lys86= Single submitter combined immunodeficiency with skin granulomas
• p.Lys903= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Lys926= Single submitter combined immunodeficiency with skin granulomas
• p.Lys96= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Lys983= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Phe187= Single submitter combined immunodeficiency with skin granulomas
• p.Phe196= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Phe438= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Phe478= Single submitter combined immunodeficiency with skin granulomas
• p.Phe625= Single submitter combined immunodeficiency with skin granulomas
• p.Phe914= Single submitter combined immunodeficiency with skin granulomas
• p.Phe971= Single submitter combined immunodeficiency with skin granulomas
• p.Pro1028= Single submitter combined immunodeficiency with skin granulomas
• p.Pro152= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Pro197= Single submitter combined immunodeficiency with skin granulomas
• p.Pro206= Single submitter combined immunodeficiency with skin granulomas
• p.Pro209= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Pro21= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Pro303= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Pro343= Single submitter combined immunodeficiency with skin granulomas
• p.Pro42= Single submitter combined immunodeficiency with skin granulomas
• p.Pro552= Single submitter combined immunodeficiency with skin granulomas
• p.Pro63= Single submitter combined immunodeficiency with skin granulomas
• p.Pro76= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Pro79= Single submitter combined immunodeficiency with skin granulomas
• p.Pro792= Single submitter combined immunodeficiency with skin granulomas
• p.Ser1040= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ser13= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ser169= Single submitter combined immunodeficiency with skin granulomas
• p.Ser210= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ser259= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ser26= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ser275= Single submitter combined immunodeficiency with skin granulomas
• p.Ser290= Single submitter combined immunodeficiency with skin granulomas
• p.Ser292= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ser368= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ser401= Single submitter combined immunodeficiency with skin granulomas
• p.Ser432= Single submitter combined immunodeficiency with skin granulomas
• p.Ser480= Single submitter combined immunodeficiency with skin granulomas
• p.Ser52= Single submitter combined immunodeficiency with skin granulomas
• p.Ser546= Single submitter combined immunodeficiency with skin granulomas
• p.Ser564= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ser58= Single submitter combined immunodeficiency with skin granulomas
• p.Ser62= Single submitter combined immunodeficiency with skin granulomas
• p.Ser726= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ser752= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ser771= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ser875= Single submitter combined immunodeficiency with skin granulomas
• p.Ser88= Single submitter combined immunodeficiency with skin granulomas
• p.Ser982= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Thr1014= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Thr1018= Single submitter combined immunodeficiency with skin granulomas
• p.Thr173= Single submitter combined immunodeficiency with skin granulomas
• p.Thr208= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Thr216= Single submitter combined immunodeficiency with skin granulomas
• p.Thr306= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Thr338= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Thr403= Single submitter combined immunodeficiency with skin granulomas
• p.Thr490= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Thr495= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Thr628= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Thr670= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Thr708= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Thr750= Single submitter combined immunodeficiency with skin granulomas
• p.Thr865= Single submitter combined immunodeficiency with skin granulomas
• p.Thr998= Single submitter combined immunodeficiency with skin granulomas
• p.Tyr372= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Tyr484= Single submitter combined immunodeficiency with skin granulomas
• p.Tyr551= Single submitter combined immunodeficiency with skin granulomas
• p.Tyr589= Single submitter combined immunodeficiency with skin granulomas
• p.Tyr912= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Tyr997= Single submitter combined immunodeficiency with skin granulomas
• p.Val133= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Val158= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Val163= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Val281= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Val344= Single submitter combined immunodeficiency with skin granulomas
• p.Val35= Single submitter combined immunodeficiency with skin granulomas
• p.Val475= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Val597= Single submitter combined immunodeficiency with skin granulomas
• p.Val727= Single submitter combined immunodeficiency with skin granulomas
• p.Val745= Single submitter combined immunodeficiency with skin granulomas
• p.Val75= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Val762= Single submitter combined immunodeficiency with skin granulomas
• p.Val779= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Val866= Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Val869= Single submitter combined immunodeficiency with skin granulomas
• p.Val895= Single submitter combined immunodeficiency with skin granulomas
• p.Val990= Single submitter combined immunodeficiency with skin granulomas

Uncertain significance 407

Showing the top 300 by review status; the full set is in the sitemap.

• p.Ala14Thr Expert panel recombinase activating gene 1 deficiency ⚠
• p.Ala868Val Expert panel recombinase activating gene 1 deficiency ⚠
• p.Arg764His Expert panel recombinase activating gene 1 deficiency ⚠
• p.Arg897Gln Expert panel recombinase activating gene 1 deficiency ⚠
• p.Asn968Lys Expert panel recombinase activating gene 1 deficiency ⚠
• p.Cys176Phe Expert panel recombinase activating gene 1 deficiency ⚠
• p.Cys363Tyr Expert panel recombinase activating gene 1 deficiency ⚠
• p.Glu814Asp Expert panel recombinase activating gene 1 deficiency ⚠
• p.Gly10Val Expert panel recombinase activating gene 1 deficiency ⚠
• p.Lys29Arg Expert panel recombinase activating gene 1 deficiency ⚠
• p.Met1Val Expert panel recombinase activating gene 1 deficiency
• p.Met355Thr Expert panel recombinase activating gene 1 deficiency ⚠
• p.Phe5Leu Expert panel recombinase activating gene 1 deficiency ⚠
• p.Pro6Leu Expert panel recombinase activating gene 1 deficiency ⚠
• p.Ser13Ala Expert panel recombinase activating gene 1 deficiency ⚠
• p.Ser26Pro Expert panel recombinase activating gene 1 deficiency ⚠
• p.Trp28Arg Expert panel recombinase activating gene 1 deficiency ⚠
• p.Ala217Asp Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ala267Thr Multiple submitters Omenn syndrome ⚠
• p.Ala422Ser Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Ala622Thr Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Ala69Gly Multiple submitters combined immunodeficiency due to partial RAG1 deficiency ⚠
• p.Ala735Val Multiple submitters Inborn genetic diseases ⚠
• p.Arg218His Multiple submitters Omenn syndrome ⚠
• p.Arg247Cys Multiple submitters Omenn syndrome ⚠
• p.Arg332Gly Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg34Gln Multiple submitters combined immunodeficiency due to partial RAG1 deficiency ⚠
• p.Arg489Ser Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg918His Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Asn268Ser Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Asn373Asp Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Asn823Thr Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Asp51Val Multiple submitters Omenn syndrome ⚠
• p.Asp554Val Multiple submitters Inborn genetic diseases ⚠
• p.Gln227Leu Multiple submitters Inborn genetic diseases ⚠
• p.Gln78Glu Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Gln911Arg Multiple submitters Inborn genetic diseases ⚠
• p.Glu876Lys Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Glu95Gly Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Glu95Lys Multiple submitters Inborn genetic diseases ⚠
• p.Gly139Val Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.His375Asp Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.His636Arg Multiple submitters Inborn genetic diseases ⚠
• p.His769Arg Multiple submitters Inborn genetic diseases ⚠
• p.His839Tyr Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.His92Gln Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Ile494Val Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Ile749Val Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Ile810Val Multiple submitters Omenn syndrome ⚠
• p.Ile815Met Multiple submitters Inborn genetic diseases ⚠
• p.Leu354Met Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Leu544Ile Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Leu721Val Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Lys144Asn Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Lys157Arg Multiple submitters Inborn genetic diseases ⚠
• p.Lys157Asn Multiple submitters combined immunodeficiency with skin granulomas
• p.Lys265del Multiple submitters combined immunodeficiency with skin granulomas
• p.Lys419Arg Multiple submitters Inborn genetic diseases ⚠
• p.Lys558Asn Multiple submitters Omenn syndrome ⚠
• p.Lys809Arg Multiple submitters Omenn syndrome ⚠
• p.Met183Ile Multiple submitters Inborn genetic diseases ⚠
• p.Met581Thr Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Met852Leu Multiple submitters Inborn genetic diseases ⚠
• p.Phe520Tyr Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Phe625Leu Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Pro1028Gln Multiple submitters Inborn genetic diseases ⚠
• p.Pro132Ser Multiple submitters combined immunodeficiency with skin granulomas
• p.Pro152Leu Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Pro284Ser Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Pro677Ala Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Ser275Asn Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Ser401Leu Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Ser982Tyr Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Thr306Ile Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Thr403Ser Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Thr942Ile Multiple submitters Omenn syndrome ⚠
• p.Tyr327Cys Multiple submitters Inborn genetic diseases ⚠
• p.Tyr333His Multiple submitters Inborn genetic diseases
• p.Val163Leu Multiple submitters Inborn genetic diseases ⚠
• p.Val200Met Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Val350Ile Multiple submitters combined immunodeficiency due to partial RAG1 deficiency ⚠
• p.Val387Ala Multiple submitters combined immunodeficiency with skin granulomas ⚠
• p.Val65Phe Multiple submitters severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• c.-10C>T Single submitter Omenn syndrome
• c.-114G>A Single submitter Omenn syndrome
• c.-14-2A>G Single submitter Omenn syndrome
• c.*1074G>A Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*1101G>A Single submitter Omenn syndrome
• c.*1111G>C Single submitter Omenn syndrome
• c.*1124C>T Single submitter Omenn syndrome
• c.*1130A>G Single submitter Omenn syndrome
• c.*1146C>T Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*1277G>A Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*1287T>C Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*1293G>C Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*1478C>T Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*1515T>C Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*1539G>A Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*1562A>G Single submitter Omenn syndrome
• c.*1611G>A Single submitter Omenn syndrome
• c.*1701T>C Single submitter Omenn syndrome
• c.*1705A>G Single submitter Omenn syndrome
• c.*1732C>T Single submitter Omenn syndrome
• c.*1767A>C Single submitter Omenn syndrome
• c.*200C>T Single submitter Omenn syndrome
• c.*2012T>C Single submitter Omenn syndrome
• c.*2211C>T Single submitter Omenn syndrome
• c.*2289T>G Single submitter Omenn syndrome
• c.*2308G>A Single submitter Omenn syndrome
• c.*238G>A Single submitter Omenn syndrome
• c.*2442G>A Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*273G>C Single submitter Omenn syndrome
• c.*2828G>A Single submitter Omenn syndrome
• c.*3058A>G Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*3191T>C Single submitter Omenn syndrome
• c.*344G>A Single submitter Omenn syndrome
• c.*362T>C Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*363T>C Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*370G>T Single submitter Omenn syndrome
• c.*420T>C Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*47T>C Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*627A>G Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*709A>G Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• c.*739C>T Single submitter Omenn syndrome
• c.*766A>G Single submitter Omenn syndrome
• p.Ala1008Thr Single submitter Inborn genetic diseases ⚠
• p.Ala105Val Single submitter ⚠
• p.Ala156Thr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ala156Val Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ala190Asp Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Ala190Thr Single submitter Inborn genetic diseases ⚠
• p.Ala217Thr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ala267Gly Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Ala441Ser Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ala468Val Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Ala557Gly Single submitter Inborn genetic diseases ⚠
• p.Ala635Asp Single submitter Inborn genetic diseases ⚠
• p.Ala635Ser Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Ala635Val Single submitter Inborn genetic diseases ⚠
• p.Ala64Val Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ala663Glu Single submitter ⚠
• p.Ala740Gly Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ala834Ser Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ala83Val Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Ala857Val Single submitter ⚠
• p.Ala960Ser Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Ala960Val Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg108Gln Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Arg112Leu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg119Gly Single submitter ⚠
• p.Arg125Gly Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg142Gln Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg147Thr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg160Trp Single submitter ⚠
• p.Arg218Cys Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg219Gln Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg219Leu Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Arg219Trp Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Arg247Gly Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg247Leu Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Arg314Gln Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg332Gln Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg34Trp Single submitter ⚠
• p.Arg405Gly Single submitter ⚠
• p.Arg412Gly Single submitter Inborn genetic diseases ⚠
• p.Arg489Gly Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Arg759His Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Arg829Ser Single submitter Omenn syndrome ⚠
• p.Arg831Met Single submitter Inborn genetic diseases ⚠
• p.Arg878Ser Single submitter Inborn genetic diseases ⚠
• p.Arg918Cys Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Arg930Met Single submitter Inborn genetic diseases ⚠
• p.Asn1007Asp Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Asn1007Ser Single submitter Inborn genetic diseases ⚠
• p.Asn106Lys Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Asn178Lys Single submitter Inborn genetic diseases ⚠
• p.Asn215Lys Single submitter Inborn genetic diseases ⚠
• p.Asn268Thr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Asn307Ser Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Asn446Tyr Single submitter ⚠
• p.Asn650Lys Single submitter ⚠
• p.Asn823Ser Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Asn853Ser Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Asn937Ser Single submitter ⚠
• p.Asp1033Gly Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Asp121Ala Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Asp153Glu Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Asp162Asn Single submitter Inborn genetic diseases ⚠
• p.Asp429Val Single submitter ⚠
• p.Asp51His Single submitter Inborn genetic diseases ⚠
• p.Asp549Gly Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Asp554Gly Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Asp576Val Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Asp585Asn Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Asp587Glu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Asp664Glu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Asp837Tyr Single submitter Inborn genetic diseases ⚠
• p.Asp867Ala Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Asp93Asn Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Asp989Gly Single submitter ⚠
• p.Cys114Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Cys179Tyr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Cys296Ser Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Cys316Ser Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Cys481Gly Single submitter ⚠
• p.Cys799Tyr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Gln1003His Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Gln104Glu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Gln254Glu Single submitter ⚠
• p.Gln294His Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Gln450Glu Single submitter Inborn genetic diseases ⚠
• p.Gln498His Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Gln72Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Gln833Glu Single submitter Inborn genetic diseases ⚠
• p.Gln911His Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Glu1032Gln Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Glu1036Gln Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Glu122Val Single submitter Omenn syndrome ⚠
• p.Glu17Asp Single submitter Inborn genetic diseases ⚠
• p.Glu341Gly Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Glu44Lys Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Glu453Asp Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Glu579Gly Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Glu652Lys Single submitter Inborn genetic diseases ⚠
• p.Glu665Lys Single submitter ⚠
• p.Glu689Lys Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Glu770Asp Single submitter Inborn genetic diseases ⚠
• p.Glu876Gly Single submitter ⚠
• p.Glu948Asp Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Glu95Ala Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Glu965Gln Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Gly1016Glu Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Gly1030Val Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Gly427Asp Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Gly428Arg Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Gly464Asp Single submitter ⚠
• p.Gly613Ala Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Gly696Asp Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Gly709Ala Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Gly802Ser Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Gly816Glu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Gly816Trp Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Gly854Asp Single submitter ⚠
• p.Gly954Val Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Gly99Asp Single submitter Omenn syndrome ⚠
• p.His1009Tyr Single submitter combined immunodeficiency with skin granulomas
• p.His103Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.His103Tyr Single submitter ⚠
• p.His375Leu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.His398Arg Single submitter Inborn genetic diseases ⚠
• p.His518Gln Single submitter combined immunodeficiency with skin granulomas ⚠
• p.His519Gln Single submitter combined immunodeficiency with skin granulomas ⚠
• p.His612Arg Single submitter combined immunodeficiency with skin granulomas ⚠
• p.His636Tyr Single submitter Inborn genetic diseases ⚠
• p.His668Gln Single submitter combined immunodeficiency with skin granulomas ⚠
• p.His747Pro Single submitter ⚠
• p.His753Asn Single submitter ⚠
• p.His839Leu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.His945Arg Single submitter combined immunodeficiency with skin granulomas ⚠
• p.His993Arg Single submitter Inborn genetic diseases ⚠
• p.His993Gln Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ile113Val Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Ile155Val Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Ile257Val Single submitter Inborn genetic diseases ⚠
• p.Ile376Thr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ile457Val Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ile538Thr Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Ile556Thr Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ile674Val Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Ile679Val Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Ile697Thr Single submitter Inborn genetic diseases ⚠
• p.Ile704Val Single submitter Omenn syndrome ⚠
• p.Ile729Leu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ile729Met Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ile729Val Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Ile788Met Single submitter Inborn genetic diseases ⚠
• p.Ile810Phe Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Ile815Thr Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Ile849Val Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Leu1002Phe Single submitter ⚠
• p.Leu107Phe Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Leu107Val Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Leu154Pro Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Leu32Val Single submitter combined immunodeficiency with skin granulomas
• p.Leu400del Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
• p.Leu566Phe Single submitter ⚠
• p.Leu653Pro Single submitter Omenn syndrome ⚠
• p.Leu675Val Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Leu714Phe Single submitter combined immunodeficiency with skin granulomas
• p.Leu836Met Single submitter Inborn genetic diseases ⚠
• p.Leu909Pro Single submitter Inborn genetic diseases ⚠
• p.Leu991Val Single submitter ⚠
• p.Leu996Phe Single submitter combined immunodeficiency due to partial RAG1 deficiency ⚠
• p.Lys164Arg Single submitter combined immunodeficiency with skin granulomas ⚠
• p.Lys277Arg Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Lys289Glu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Lys383Glu Single submitter severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ⚠
• p.Lys47Glu Single submitter Inborn genetic diseases ⚠
• p.Lys50del Single submitter
• p.Lys642Gln Single submitter combined immunodeficiency with skin granulomas ⚠