Sugi Variant

Sugi Variant/LRBA

LRBA — 2463 ClinVar variants

All ClinVar germline LRBA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 712 flagged for review →

106 Pathogenic · 15 Pathogenic/Likely pathogenic · 65 Likely pathogenic · 62 Conflicting · 88 Benign · 49 Benign/Likely benign · 876 Likely benign · 1202 Uncertain significance

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

⚑ Evidence disagreements 712

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 22

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

Predictors lean, ClinVar uncertain 628

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 628

Predictors split 62

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

All LRBA variants

Pathogenic 106

  • c.5646-2A>T Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg1445Ter Multiple submitters severe combined immunodeficiency due to CORO1A deficiency
  • p.Arg1683Ter Multiple submitters LRBA-related disorder
  • p.Arg182Ter Multiple submitters LRBA-related disorder
  • p.Arg2128Ter Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg2337Ter Multiple submitters LRBA-related disorder
  • p.Arg2428Ter Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gln1508Ter Multiple submitters Inherited Immunodeficiency Diseases
  • p.Glu945_Glu946insTer Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ile2646Ser Multiple submitters LRBA-related disorder
  • c.2067+1G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.217-1G>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2766+2T>C Single submitter
  • c.448+1G>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4569+1G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5580+1G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.6046+1892_6046+1910del Single submitter combined immunodeficiency due to LRBA deficiency
  • c.6551+1del Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ala116fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg1271Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg1929Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg1993Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg1994Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg2185fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg2327Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg2778Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg424fs Single submitter
  • p.Arg645fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg655Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg736fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Asn163fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Asn1675fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Asn1687fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Asn2643fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Asn6delinsSerTer Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Asn988fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Asp1053fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Asp179fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Asp1927fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Cys1843fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gln1026Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gln126fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gln1331fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gln1718delinsArgTer Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gln2182Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gln2469Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gln2483Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gln2495Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gln2736fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gln2762Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gln2802Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Glu1898Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Glu402fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Glu855Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Glu883Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Glu946Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gly2708Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gly908fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ile1225fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ile2107fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Leu1154fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Leu1835_Ile1836insTer Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Leu1977fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Leu2229Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Leu747Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Lys2347fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Lys280fs Single submitter
  • p.Lys298fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Lys566fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Met711fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Phe1096fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Phe207fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Phe2433fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Pro1745fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Pro226fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Pro816fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ser1277Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ser1584fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ser2090Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ser2703fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ser347fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ser853fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ser872fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Trp1333Ter Single submitter
  • p.Trp1862Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Trp1968Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Trp2237fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Trp2303Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Trp579Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Trp869Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Trp906Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Trp912Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Tyr1016Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Tyr2094Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Tyr2277fs Single submitter
  • p.Tyr554Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Tyr875Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Val1162_Thr1163insTer Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Val1752fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Val69_Phe70insTer Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Val69fs Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1494-2A>G No assertion criteria combined immunodeficiency due to LRBA deficiency
  • c.4729+1G>C No assertion criteria combined immunodeficiency due to LRBA deficiency
  • p.Gln678Ter No assertion criteria combined immunodeficiency due to LRBA deficiency
  • p.Glu59Ter No assertion criteria combined immunodeficiency due to LRBA deficiency
  • p.Phe333fs No assertion criteria combined immunodeficiency due to LRBA deficiency

Pathogenic/Likely pathogenic 15

  • c.216+1G>C Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg1601Ter Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg2203Ter Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg2461Ter Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg310Ter Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg317Ter Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg645Ter Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg827Ter Multiple submitters LRBA-related disorder
  • p.Asn2716fs Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asp1329fs Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gln1363Ter Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gln817Ter Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser2079fs Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser348Ter Multiple submitters LRBA-related disorder
  • p.Trp2336Ter Multiple submitters combined immunodeficiency due to LRBA deficiency

Likely pathogenic 65

  • c.1923_1924+11del Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.2259-2A>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.2767-2A>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.4159-1G>T Multiple submitters LRBA-related disorder
  • c.5518+2T>C Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.5519-1G>A Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Thr1587fs Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.1602+2T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1924+2T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2166-1G>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2258+2T>G Single submitter LRBA-related disorder
  • c.2449+1G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4158+1G>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4720_4729+3del Single submitter LRBA-related disorder
  • c.4730-2A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.476_549+580del Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5645+1G>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5645+2T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5755-1G>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5921+1G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.6046+1890A>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.6194-2A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.6331-2A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.6551+1G>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.7194+1G>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.7363-1G>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.7849+2T>C Single submitter
  • c.7850-1G>A Single submitter LRBA-related disorder
  • p.Ala1808_Pro1809insTer Single submitter
  • p.Ala1873fs Single submitter
  • p.Ala514fs Single submitter LRBA-related disorder
  • p.Arg2149fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg840fs Single submitter LRBA-related disorder
  • p.Asp154fs Single submitter
  • p.Gln2027Ter Single submitter
  • p.Gln2588Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gln2621fs Single submitter Syndromic Monogenic Diabetes
  • p.Gln717Ter Single submitter LRBA-related disorder
  • p.Glu2208fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Glu733Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gly2464fs Single submitter
  • p.Gly2808Ter Single submitter Inherited Immunodeficiency Diseases
  • p.His1937fs Single submitter LRBA-related disorder
  • p.His288fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ile1060fs Single submitter LRBA-related disorder
  • p.Leu2471fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Leu564fs Single submitter
  • p.Leu916fs Single submitter LRBA deficiency
  • p.Lys1650Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Pro1489fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Pro440fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ser1380Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ser1433fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ser1671fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ser2613fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Thr2631fs Single submitter LRBA deficiency
  • p.Trp2539Ter Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Tyr227Ter Single submitter
  • p.Val1414fs Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Val1878fs Single submitter combined immunodeficiency due to LRBA deficiency
  • c.217-1G>A No assertion criteria combined immunodeficiency due to LRBA deficiency
  • p.Gln1363fs No assertion criteria combined immunodeficiency due to LRBA deficiency
  • p.Met1434fs No assertion criteria combined immunodeficiency due to LRBA deficiency
  • p.Thr1222fs No assertion criteria combined immunodeficiency due to LRBA deficiency
  • p.Val2497fs No assertion criteria combined immunodeficiency due to LRBA deficiency

Conflicting classifications of pathogenicity 62

  • c.1161+4G>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4569+11A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4570-6T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.549+6A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5754+15T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.6046+1889T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.6046+7G>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.6448+17A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.6551+4C>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.6552-13C>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.6667+18A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.6667+5C>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.8468+10del Single submitter combined immunodeficiency due to LRBA deficiency
  • c.*9G>T Single submitter
  • p.Ala2012= Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ala892Thr Single submitter combined immunodeficiency due to LRBA deficiency ⚠
  • p.Arg1300Ile Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg1334= Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg1445Gln Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg2795Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg2851Cys Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg317Gln Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Arg633Ter Single submitter Inherited Immunodeficiency Diseases
  • p.Asn1248Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn1263= Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Asn1367Ser Single submitter combined immunodeficiency due to LRBA deficiency ⚠
  • p.Asn1677Ser Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Asn815Ser Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Asp1131Gly Single submitter combined immunodeficiency due to LRBA deficiency ⚠
  • p.Asp2108Asn Single submitter Inborn genetic diseases ⚠
  • p.Cys1563Phe Single submitter Inborn genetic diseases ⚠
  • p.Gly1069= Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gly1117Val Single submitter combined immunodeficiency due to LRBA deficiency ⚠
  • p.Gly1969Ala Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Gly524Ser Single submitter combined immunodeficiency due to LRBA deficiency
  • p.His571= Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ile2221Thr Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ile2745Thr Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ile65Thr Single submitter combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile822Met Single submitter combined immunodeficiency due to LRBA deficiency ⚠
  • p.Leu263Val Single submitter combined immunodeficiency due to LRBA deficiency ⚠
  • p.Leu2734Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu684= Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Leu80= Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Lys879= Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Met467Val Single submitter combined immunodeficiency due to LRBA deficiency ⚠
  • p.Met759Leu Single submitter combined immunodeficiency due to LRBA deficiency ⚠
  • p.Phe1531Val Single submitter combined immunodeficiency due to LRBA deficiency ⚠
  • p.Pro1269Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro1668= Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Ser2339Ile Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Thr1039Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr1167Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr2296Asn Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Thr2522Pro Single submitter combined immunodeficiency due to LRBA deficiency ⚠
  • p.Thr336= Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Thr780= Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Trp2627Arg Single submitter combined immunodeficiency due to LRBA deficiency
  • p.Val1264Met Single submitter combined immunodeficiency due to LRBA deficiency ⚠
  • p.Val2055Met Single submitter Inborn genetic diseases ⚠
  • p.Val2601Ile Single submitter Inborn genetic diseases ⚠
  • p.Val737Ile Single submitter combined immunodeficiency due to LRBA deficiency ⚠

Benign 88

Benign/Likely benign 49

  • c.1015-10del Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.1015-10dup Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.2067+11A>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.2068-19dup Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.217-10del Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.217-11_217-10dup Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.3825+15T>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.3826-5A>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.4569+9C>T Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.5171+20G>A Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.5581-12T>C Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.5581-5del Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.5581-5dup Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.5755-10dup Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.5755-18T>C Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.6046+1886T>C Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.7041+15del Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.8018-8dup Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.895-11dup Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala1090Gly Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala1141= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala2693Thr Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala823= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg1997Cys Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asn1677= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asn1747= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Cys1228= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gln1316= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gln2284= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Glu1571= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gly1495= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gly18Arg Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ile1287Val Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ile505Val Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ile724Val Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu2702Phe Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu2776= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Met1190Val Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Phe842= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser2129= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser2468= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser2798Leu Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Thr1625= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Thr68= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Thr824= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Tyr2820= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Val1111Leu Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Val1292Ile Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Val1850= Multiple submitters combined immunodeficiency due to LRBA deficiency

Likely benign 876

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

  • c.1015-12T>C Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.1493+8C>T Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.1494-13T>A Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.1494-20G>A Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.1755+10A>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.1755+8A>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.1756-15A>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.2166-18A>T Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.217-20T>C Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.217-20T>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.2368-16T>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.2766+9C>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.3825+9A>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.3826-20T>C Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.4005-17C>A Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.4158+17T>C Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.4339+18G>A Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.4462-12A>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.449-19C>T Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.5306-15A>T Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.5755-16T>A Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.6047-19T>C Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.6330+8G>A Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.6449-18A>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.6780+8C>T Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.7452+17del Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.8018-14G>C Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.8317-9G>A Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.8468+10G>T Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala1004= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala1200= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala1260= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala1471Gly Multiple submitters Inborn genetic diseases
  • p.Ala2023= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala2302= Multiple submitters Inborn genetic diseases
  • p.Ala2535= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala2693= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala2817= Multiple submitters Inborn genetic diseases
  • p.Ala933= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg937= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asn1774= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asn2041= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asn2839= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asn354= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asp103= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asp1108= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asp204= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asp2810= Multiple submitters Inborn genetic diseases
  • p.Gln1459= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gln814= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gln862= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gln940= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Glu1088= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gly1468= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gly1608= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gly2173= Multiple submitters Inborn genetic diseases
  • p.His1802= Multiple submitters Inborn genetic diseases
  • p.Ile463= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ile896= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu1125= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu125= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu1322= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu1472= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu1682= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu1834= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu2009= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu2045= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu2657= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu2711= Multiple submitters Inborn genetic diseases
  • p.Lys1165= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Lys1214= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Lys36= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Lys802= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Phe2273= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Phe2392= Multiple submitters Inborn genetic diseases
  • p.Phe357= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Pro1716= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Pro1790= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Pro2233= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Pro2553= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser1003= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser1197= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser1919= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser2091= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser2132= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser2798= Multiple submitters Inborn genetic diseases
  • p.Ser462= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser917= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Thr115= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Thr1588= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Thr2089= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Thr2125= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Thr235= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Thr2683= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Thr28= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Tyr2687= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Val1678= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Val2097= Multiple submitters Inborn genetic diseases
  • p.Val2380= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Val2629= Multiple submitters Inborn genetic diseases
  • p.Val890= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.1014+12C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1014+7A>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1015-15T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1015-15T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1015-5del Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1015-8T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1161+14T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1162-18T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1162-7T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1162-9_1162-6del Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1359+10G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1359+11_1359+12del Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1360-8C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1493+11T>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1493+17_1493+20del Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1493+7G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1494-11A>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1494-20G>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1494-9A>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1602+17T>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1602+19T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1602+20A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1602+20A>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1602+20del Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1602+9T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1603-13A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1755+12C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1755+18A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1755+19T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1755+8A>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1756-19C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1756-4G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1756-5T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1924+14G>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1924+16C>T Single submitter
  • c.1924+17T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1924+20A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1925-14T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1925-15A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.1925-18T>C Single submitter
  • c.1925-6T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2004+10C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2004+11G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2004+15C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2004+20T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2004+8del Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2005-12A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2005-15A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2005-20C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2067+10G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2067+17A>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2067+19A>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2067+20T>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2067+7T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2068-13A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2068-13A>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2068-18T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2068-18T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2068-19del Single submitter
  • c.2068-8G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2068-8G>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.216+13A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.216+16T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2165+12T>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2165+14A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2165+18A>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2166-10A>G Single submitter
  • c.2166-10A>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2166-12T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2166-16A>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2166-6A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2166-7C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.217-12T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.217-14T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.217-17T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.217-5G>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.217-5G>T Single submitter
  • c.217-8dup Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2258+12G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2258+13A>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2258+16T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2259-14T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2259-17T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2259-18_2259-17del Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2259-7dup Single submitter
  • c.2367+17dup Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2367+7A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2368-11T>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2368-6C>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2449+14A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2450-17dup Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2450-19T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2573+7T>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2573+8G>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2574-11A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2574-12C>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2574-13_2574-12del Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2574-14C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2574-17C>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2574-9_2574-8del Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2766+18A>G Single submitter
  • c.2766+18del Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2766+19G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2766+20C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2767-17G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.2767-19T>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.3825+11A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.3825+18C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.3825+20T>C Single submitter
  • c.3826-14A>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4004+13G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4004+16dup Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4004+9A>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4005-10C>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4005-17C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4005-19A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4005-5G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4158+18A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4158+19T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4159-17A>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4159-7T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4339+17C>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4339+17C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4339+8_4339+10del Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4340-10T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4340-6T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4340-7A>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4461+13A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4461+18T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4461+7A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4462-13dup Single submitter
  • c.4462-13T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4462-13T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4462-16T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4462-19_4462-18insG Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4462-19T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4462-8T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.448+15A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.448+7T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.449-13C>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.449-18G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.449-18G>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.449-5T>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4569+15G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4569+18T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4570-19C>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4570-20C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4570-8T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4729+14T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4729+18A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4729+19T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4729+9G>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.4730-8T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5171+10A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5171+11T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5171+12A>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5171+19C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5171+9A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5172-10T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5172-11C>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5305+9G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5305+9G>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5305+9G>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5306-13T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5306-14T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5306-16T>C Single submitter
  • c.5306-20T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5306-20T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5384+10C>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5384+16A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5385-11C>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5385-15A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5385-6C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.549+11T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.549+19T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.549+8A>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5518+14C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5518+8G>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5518+8G>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5518+9T>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5519-10T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5519-11C>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5519-11C>T Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5519-19A>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5519-20T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5519-7A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5580+13A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5580+7G>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5581-16G>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5581-4dup Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5581-5T>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5581-5T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5645+13A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5645+14_5645+18del Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5645+14T>C Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5646-15A>G Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5646-16_5646-15insT Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5646-16C>A Single submitter combined immunodeficiency due to LRBA deficiency
  • c.5646-6T>A Single submitter combined immunodeficiency due to LRBA deficiency

Uncertain significance 1202

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

  • c.1924+4_1924+7del Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.3826-13A>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.549+6A>C Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.6046+1895G>A Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • c.6667+5C>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.7194+4A>G Multiple submitters combined immunodeficiency due to LRBA deficiency
  • c.8469-1G>C Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala1138Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ala1288Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ala1451Thr Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala1626Leu Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala1636Gly Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala1666Thr Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ala1758Thr Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ala1775Gly Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ala1819Val Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala1915Val Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala1967Thr Multiple submitters LRBA-related disorder
  • p.Ala2007Val Multiple submitters Inborn genetic diseases
  • p.Ala2064= Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala2222Thr Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ala2455Gly Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala2524Gly Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala2548Ser Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ala2548Thr Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ala2693Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ala2773Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ala2811Ser Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ala2811Thr Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ala2817Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ala394Pro Multiple submitters Inborn genetic diseases
  • p.Ala514Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ala627Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala679Gly Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ala823Val Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg1305His Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Arg1305Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1441Trp Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Arg1505Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1514Trp Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Arg1558Ser Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Arg167Cys Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg167Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg1812Cys Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg1824Trp Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Arg182Gln Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Arg1929Gln Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg1981Cys Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg1981His Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg2128Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2133His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2134Cys Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Arg2134Ser Multiple submitters Inborn genetic diseases
  • p.Arg2171His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2171Leu Multiple submitters Inborn genetic diseases
  • p.Arg2185Cys Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg2185His Multiple submitters Inborn genetic diseases
  • p.Arg2192His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2203Gln Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Arg2256Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2276Cys Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Arg2276His Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Arg2327Gln Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Arg2337Gln Multiple submitters Inborn genetic diseases
  • p.Arg2341Cys Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Arg2341His Multiple submitters Inborn genetic diseases
  • p.Arg2428Pro Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Arg2453Lys Multiple submitters Inborn genetic diseases
  • p.Arg2597Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2679Trp Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg2789Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2795Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg2814Gln Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg2814Trp Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg2843Gln Multiple submitters Inborn genetic diseases
  • p.Arg2843Trp Multiple submitters Inborn genetic diseases
  • p.Arg2851His Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg424Trp Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg609Gln Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg645Gln Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Arg722Cys Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Arg827Gln Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Asn1040Ser Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Asn1132Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1248Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1263Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1391Tyr Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Asn1649Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asn1959Ser Multiple submitters Inborn genetic diseases
  • p.Asn2139Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn2148Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn2148Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn2396Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn2431Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn246Ser Multiple submitters Inborn genetic diseases
  • p.Asn2567Ser Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Asn439Ser Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Asn62Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn852Tyr Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asp1168His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp1931Val Multiple submitters Inborn genetic diseases
  • p.Asp1988Asn Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asp2018Gly Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Asp2050Glu Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asp2108His Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asp2158Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp2282Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp2283Asn Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asp2283Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Asp2769Glu Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Asp2810Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp2821Asn Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Asp397Asn Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Asp410Asn Multiple submitters Inborn genetic diseases
  • p.Asp64Gly Multiple submitters Inborn genetic diseases
  • p.Asp675Asn Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Cys289Arg Multiple submitters Inborn genetic diseases
  • p.Cys94Phe Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Cys950Phe Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Gln1166Arg Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Gln1396Glu Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Gln2284His Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gln2546Arg Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gln2581Glu Multiple submitters Inborn genetic diseases
  • p.Gln831Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1088Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1088Gly Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Glu1103Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1121Gly Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Glu1457Gln Multiple submitters Inborn genetic diseases
  • p.Glu1524Asp Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Glu1565Gly Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Glu1801Lys Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Glu2019Gly Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Glu2092Lys Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Glu2126Asp Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Glu2439Gly Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Glu2727Lys Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Glu888Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1142Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1397Ser Multiple submitters Inborn genetic diseases
  • p.Gly1496Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly1659Ala Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Gly1969Arg Multiple submitters Inborn genetic diseases
  • p.Gly2025Glu Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gly2065Ser Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Gly2603Ala Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Gly2684Ser Multiple submitters Inborn genetic diseases
  • p.Gly2699Ala Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gly2750Ser Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Gly30Ala Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Gly30Arg Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Gly58Ala Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Gly75Glu Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Gly76Glu Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Gly970Glu Multiple submitters Inborn genetic diseases ⚠
  • p.His1914Arg Multiple submitters Inborn genetic diseases
  • p.His2004Tyr Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.His2394Arg Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.His2410Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His2511Tyr Multiple submitters Inborn genetic diseases
  • p.His2742Tyr Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.His619Arg Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile1060Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile1082Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile117Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1241Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1375Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1400Met Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1400Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1411Phe Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile1540Leu Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ile1551Val Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ile1688Leu Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile1727Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1911Thr Multiple submitters Inborn genetic diseases
  • p.Ile2130Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile222Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile2307Met Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile2447Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile2564Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile2599Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile2620Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ile2640Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile279Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile307Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile470Thr Multiple submitters Inborn genetic diseases
  • p.Ile470Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile662Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile822Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ile935Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1125Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1318Val Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu1319Val Multiple submitters Inborn genetic diseases
  • p.Leu1575Phe Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Leu1644Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu1705Arg Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu1841Pro Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Leu2060Ser Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu2471Phe Multiple submitters Inborn genetic diseases
  • p.Leu2836_Phe2837insLeu Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Leu39Pro Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Leu406Phe Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Leu573Ile Multiple submitters Inborn genetic diseases
  • p.Leu861Pro Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Leu871Phe Multiple submitters Inborn genetic diseases
  • p.Leu873Phe Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Lys136Arg Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Lys1465Arg Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Lys1470Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys1650Arg Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Lys1655Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Lys2163Glu Multiple submitters ⚠
  • p.Lys2420Glu Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Lys261Arg Multiple submitters Inborn genetic diseases
  • p.Lys342Arg Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Lys437Asn Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Lys942Glu Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Met113Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Met1314Ile Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Met1332Thr Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Met1434Leu Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Met2146Ile Multiple submitters Inborn genetic diseases
  • p.Met2153Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met2216Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met2359Ile Multiple submitters Inborn genetic diseases
  • p.Met2765Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met704Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met711Val Multiple submitters Inborn genetic diseases
  • p.Met743Val Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Met773Ile Multiple submitters Inborn genetic diseases
  • p.Met781Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met95Val Multiple submitters Inborn genetic diseases ⚠
  • p.Phe1818Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Phe2299Leu Multiple submitters Inborn genetic diseases
  • p.Phe2314Tyr Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Pro1136Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1289Leu Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Pro1634Leu Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Pro1668Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro1689Leu Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Pro2072Ser Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Pro2109Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro2181Thr Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Pro2477Ser Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Pro2518Ser Multiple submitters Inborn genetic diseases
  • p.Pro478Leu Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Pro630Ser Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Pro644Leu Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser1231Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1277Pro Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ser1299Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1384Leu Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser1421Arg Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser1488Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1526Asn Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser1568Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1598Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1671Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1743Gly Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ser1779Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser2002Trp Multiple submitters Inborn genetic diseases
  • p.Ser213Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser414Pro Multiple submitters Inborn genetic diseases
  • p.Ser465Arg Multiple submitters Inborn genetic diseases
  • p.Ser535Phe Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser730Leu Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Ser732Asn Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ser835Asn Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Ser994Gly Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Thr1068Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1074Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr1251Ala Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Thr1302Ile Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Thr1587Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr2017Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Thr2176Ala Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Thr2240Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr2614Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr2675Ile Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Thr420Met Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Thr582Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr592Ala Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Thr596Met Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Thr620Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr976Met Multiple submitters Inborn genetic diseases ⚠
  • p.Trp2844Ter Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Trp626Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr1944Cys Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Tyr2135His Multiple submitters Inborn genetic diseases
  • p.Tyr2168His Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Tyr2290Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr2419Ser Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠
  • p.Tyr2598Cys Multiple submitters Inborn genetic diseases
  • p.Tyr2645Phe Multiple submitters Inborn genetic diseases
  • p.Tyr2747Cys Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Tyr2838Ser Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Tyr591His Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Tyr891His Multiple submitters combined immunodeficiency due to LRBA deficiency
  • p.Val1196Ile Multiple submitters combined immunodeficiency due to LRBA deficiency ⚠