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Common Variable Immunodeficiency (D017074)
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IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)

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..expandIMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY (OMIM:614700)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6294
Name:IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
Definition:
Alternative IDs:DO:DOID:12177
ParentIDs:MESH:D017074
TreeNumbers:C20.673.330/614700
Synonyms:CVID8
Slim Mappings:Immune system disease
Reference: MedGen: 614700
MeSH: 614700
OMIM: 614700;
MSeqDR LSDB:  
Genes: LRBA;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001890Autoimmune hemolytic anemia
3 HP:0001369Arthritis
4 HP:0002099Asthma
5 HP:0002110Bronchiectasis
6 HP:0002028Chronic diarrhea
7 HP:0006528Chronic lung disease
8 HP:0100759Clubbing of fingers
9 HP:0002583Colitis
10 HP:0000509Conjunctivitis
11 HP:0001508Failure to thrive
12 HP:0005263Gastritis
13 HP:0001510Growth delay
NAMDC:  Growth delay
14 HP:0000821Hypothyroidism
NAMDC:  Hypothyroidism
15 HP:0002720IgA deficiency
16 HP:0002850IgM deficiency
17 HP:0002721Immunodeficiency
18 HP:0002716Lymphadenopathy
19 HP:0001875NeutropeniaHP:0040283
20 HP:0001876PancytopeniaHP:0040283
21 HP:0002090Pneumonia
22 HP:0003676Progressive
23 HP:0000403Recurrent otitis media
24 HP:0011108Recurrent sinusitis
25 HP:0001873Thrombocytopenia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001364905.1(LRBA):c.8552G>A (p.Arg2851His)987LRBAUncertain significancers112101490RCV001301837; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151186881151186881CT151186881-
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys)987LRBAConflicting interpretations of pathogenicityrs145709687RCV000291873|RCV000788151|RCV001085157; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151186882151186882GA4:g.151186882G>AClinGen:CA3101305
NM_001364905.1(LRBA):c.8531G>A (p.Trp2844Ter)987LRBAUncertain significancers1323561325RCV000650417|RCV000788567; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151186902151186902CT4:g.151186902C>TClinGen:CA358436657
NM_001364905.1(LRBA):c.8529G>T (p.Arg2843=)987LRBALikely benign-1RCV001454479; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151186904151186904CA151186904-
NM_001364905.1(LRBA):c.8528G>A (p.Arg2843Gln)987LRBAUncertain significancers200336029RCV001063255; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151186905151186905CT4:g.151186905C>T-
NM_001364905.1(LRBA):c.8527C>T (p.Arg2843Trp)987LRBAUncertain significancers140571055RCV001244185; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151186906151186906GA4:g.151186906G>A-
NM_001364905.1(LRBA):c.8517C>T (p.Asn2839=)987LRBALikely benignrs145690847RCV000898243; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151186916151186916GA4:g.151186916G>A-
NM_001364905.1(LRBA):c.8515A>G (p.Asn2839Asp)987LRBAUncertain significancers529665764RCV001037652; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151186918151186918TC4:g.151186918T>C-
NM_001364905.1(LRBA):c.8513A>C (p.Tyr2838Ser)987LRBAUncertain significancers372010196RCV000807676; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151186920151186920TG4:g.151186920T>G-
NM_001364905.1(LRBA):c.8508_8510dup (p.Leu2836dup)987LRBAUncertain significancers758817236RCV001208796; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151186922151186923AAAAT4:g.151186922_151186923insAAT-
NM_001364905.1(LRBA):c.8481T>C (p.Ser2827=)987LRBALikely benign-1RCV001412801; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151186952151186952AG151186952-
NM_001364905.1(LRBA):c.8469-1G>C987LRBAUncertain significancers1163127164RCV001235943; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151186965151186965CG4:g.151186965C>G-
NM_001364905.1(LRBA):c.8468+10del987LRBALikely benign-1RCV001413764; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151198995151198995TCT151198994-
NM_001364905.1(LRBA):c.8468+10G>T987LRBALikely benign-1RCV001448649; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151198995151198995CA151198995-
NM_001364905.1(LRBA):c.8468+5C>T987LRBAUncertain significance-1RCV001369440; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199000151199000GA151199000-
NM_001364905.1(LRBA):c.8461G>A (p.Asp2821Asn)987LRBAUncertain significancers191145485RCV000650426|RCV000788516; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151199012151199012CT4:g.151199012C>TClinGen:CA3101340
NM_001364905.1(LRBA):c.8460C>T (p.Tyr2820=)987LRBABenignrs76608264RCV000886954; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199013151199013GA4:g.151199013G>A-
NM_001364905.1(LRBA):c.8458T>C (p.Tyr2820His)987LRBAUncertain significancers1580874816RCV000799693; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199015151199015AG4:g.151199015A>G-
NM_001364905.1(LRBA):c.8451G>A (p.Ala2817=)987LRBALikely benign-1RCV001444487; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199022151199022CT151199022-
NM_001364905.1(LRBA):c.8450C>T (p.Ala2817Val)987LRBAUncertain significancers142943481RCV000998300|RCV001043258; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199023151199023GA4:g.151199023G>A-
NM_001364905.1(LRBA):c.8446A>G (p.Met2816Val)987LRBAUncertain significancers1276578449RCV001226770; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199027151199027TC4:g.151199027T>C-
NM_001364905.1(LRBA):c.8441G>A (p.Arg2814Gln)987LRBAUncertain significancers746707676RCV000804307; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199032151199032CT4:g.151199032C>T-
NM_001364905.1(LRBA):c.8440C>T (p.Arg2814Trp)987LRBAUncertain significancers143351602RCV000688841; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199033151199033GA4:g.151199033G>A-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.8431G>A (p.Ala2811Thr)987LRBAUncertain significancers781586380RCV001245273; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199042151199042CT4:g.151199042C>T-
NM_001364905.1(LRBA):c.8430C>T (p.Asp2810=)987LRBALikely benign-1RCV001394011; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199043151199043GA151199043-
NM_001364905.1(LRBA):c.8421A>G (p.Pro2807=)987LRBALikely benign-1RCV001478959; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199052151199052TC151199052-
NM_001364905.1(LRBA):c.8403G>C (p.Lys2801Asn)987LRBABenignrs200809013RCV000885308; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199070151199070CG4:g.151199070C>G-
NM_001364905.1(LRBA):c.8393C>T (p.Ser2798Leu)987LRBABenignrs2290846RCV000455932|RCV001513626|RCV001653798; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151199080151199080GA4:g.151199080G>AClinGen:CA3101355CN169374 not specified;
NM_001364905.1(LRBA):c.8384G>A (p.Arg2795Gln)987LRBAUncertain significancers765055573RCV001236371; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199089151199089CT4:g.151199089C>T-
NM_001364905.1(LRBA):c.8377G>A (p.Val2793Met)987LRBAUncertain significancers750339318RCV001318811; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199096151199096CT151199096-
NM_001364905.1(LRBA):c.8365A>G (p.Arg2789Gly)987LRBAUncertain significancers141577859RCV001342666; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199108151199108TC151199108-
NM_001364905.1(LRBA):c.8333G>A (p.Arg2778Gln)987LRBAUncertain significancers749223887RCV001213408; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199140151199140CT4:g.151199140C>T-
NM_001364905.1(LRBA):c.8332C>T (p.Arg2778Ter)987LRBAPathogenicrs1580875488RCV000803776; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199141151199141GA4:g.151199141G>A-
NM_001364905.1(LRBA):c.8328G>A (p.Leu2776=)987LRBABenignrs116828023RCV000650444; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199145151199145CT4:g.151199145C>TClinGen:CA3101368C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.8318C>T (p.Ala2773Val)987LRBAUncertain significancers140288109RCV001338535; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199155151199155GA151199155-
NM_001364905.1(LRBA):c.8317G>A (p.Ala2773Thr)987LRBAUncertain significancers1015318367RCV000692144; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199156151199156CT4:g.151199156C>T-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.8317-9G>A987LRBALikely benign-1RCV001486683; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199165151199165CT151199165-
NM_001364905.1(LRBA):c.8317-341T>C987LRBABenignrs2290847RCV000960458|RCV001522190; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151199497151199497AG4:g.151199497A>G-
NM_001364905.1(LRBA):c.8299A>G (p.Thr2767Ala)987LRBAUncertain significancers1747664379RCV001061783; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151203619151203619TC4:g.151203619T>C-
NM_001364905.1(LRBA):c.8295G>A (p.Met2765Ile)987LRBAUncertain significancers142722799RCV001238143; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151203623151203623CT4:g.151203623C>T-
NM_001364905.1(LRBA):c.8292G>A (p.Thr2764=)987LRBALikely benign-1RCV001436991; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151203626151203626CT151203626-
NM_001364905.1(LRBA):c.8269G>A (p.Val2757Met)987LRBAUncertain significancers757644967RCV001055697; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151203649151203649CT4:g.151203649C>T-
NM_001364905.1(LRBA):c.8256C>A (p.Phe2752Leu)987LRBAUncertain significancers773001726RCV000801042; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151203662151203662GT4:g.151203662G>T-
NM_001364905.1(LRBA):c.8256C>T (p.Phe2752=)987LRBALikely benign-1RCV001401921; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151203662151203662GA151203662-
NM_001364905.1(LRBA):c.8248G>A (p.Gly2750Ser)987LRBAUncertain significancers746434010RCV000685427; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151203670151203670CT4:g.151203670C>T-
NM_001364905.1(LRBA):c.8247C>T (p.Asn2749=)987LRBALikely benign-1RCV001428960; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151203671151203671GA151203671-
NM_001364905.1(LRBA):c.8200C>T (p.Leu2734Phe)987LRBALikely benignrs372949000RCV000928479; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151203718151203718GA4:g.151203718G>A-
NM_001364905.1(LRBA):c.8142_8145dup (p.Asn2716fs)987LRBAPathogenic/Likely pathogenicrs1264504989RCV000991429|RCV001200458; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151203772151203773TTCATG4:g.151203772_151203773insCATG-
NM_001364905.1(LRBA):c.8133C>T (p.Leu2711=)987LRBALikely benignrs780738868RCV000919664; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151203785151203785GA4:g.151203785G>A-
NM_001364905.1(LRBA):c.8120-9T>C987LRBALikely benign-1RCV001490420; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151203807151203807AG151203807-
NM_001364905.1(LRBA):c.8116C>G (p.Gln2706Glu)987LRBAUncertain significancers1274254064RCV001326836; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151207088151207088GC151207088-
NM_001364905.1(LRBA):c.8106G>C (p.Leu2702Phe)987LRBABenignrs34662958RCV000559344; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151207098151207098CG4:g.151207098C>GClinGen:CA3101439
NM_001364905.1(LRBA):c.8101_8103del (p.Val2701del)987LRBAUncertain significancers1560963643RCV000688549; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151207101151207103ACACA4:g.151207101_151207103del-
NM_001364905.1(LRBA):c.8088G>A (p.Ala2696=)987LRBABenignrs78563281RCV000543298; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151207116151207116CT4:g.151207116C>TClinGen:CA3101441C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.8078C>T (p.Ala2693Val)987LRBAUncertain significancers562981599RCV000797986; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151207126151207126GA4:g.151207126G>A-
NM_001364905.1(LRBA):c.8077G>A (p.Ala2693Thr)987LRBABenignrs3749574RCV000454677|RCV001513627|RCV001537494; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151207127151207127CT4:g.151207127C>TClinGen:CA3101446
NM_001364905.1(LRBA):c.8071T>G (p.Cys2691Gly)987LRBAUncertain significancers1560963757RCV000690780; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151207133151207133AC4:g.151207133A>C-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.8061T>C (p.Tyr2687=)987LRBALikely benignrs146768056RCV000960525; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151207143151207143AG4:g.151207143A>G-
NM_001364905.1(LRBA):c.8049C>T (p.Thr2683=)987LRBALikely benignrs144225937RCV000650448; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151207155151207155GA4:g.151207155G>AClinGen:CA3101455C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.8036G>A (p.Arg2679Gln)987LRBAUncertain significancers367712597RCV000794079; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151207168151207168CT4:g.151207168C>T-
NM_001364905.1(LRBA):c.8024C>T (p.Thr2675Ile)987LRBAUncertain significancers202244838RCV000591776|RCV000650420; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151207180151207180GA4:g.151207180G>AClinGen:CA3101460C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.8018-13dup987LRBABenign-1RCV001516735; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151207193151207194GGA151207193-
NM_001364905.1(LRBA):c.8017+5475_8017+5480del987LRBABenign-1RCV001515422; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151218297151218302CATATTTC151218296-
NM_001364905.1(LRBA):c.8017+4A>T987LRBAUncertain significance-1RCV001366337; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223773151223773TA151223773-
NM_001364905.1(LRBA):c.8013A>C (p.Pro2671=)987LRBALikely benignrs1553994424RCV000650450; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223781151223781TG4:g.151223781T>GClinGen:CA441866557C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.8010C>A (p.Asn2670Lys)987LRBAUncertain significancers1164607984RCV001034820; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223784151223784GT4:g.151223784G>T-
NM_001364905.1(LRBA):c.7993A>G (p.Ser2665Gly)987LRBAUncertain significancers754762630RCV001244856; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223801151223801TC4:g.151223801T>C-
NM_001364905.1(LRBA):c.7970T>G (p.Leu2657Arg)987LRBAUncertain significancers748993188RCV001061891; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223824151223824AC4:g.151223824A>C-
NM_001364905.1(LRBA):c.7937T>G (p.Ile2646Ser)987LRBAPathogenicrs199469663RCV000029134; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223857151223857AC4:g.151223857A>CClinGen:CA129909,UniProtKB:P50851#VAR_068690,OMIM:606453.0001C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.7934A>T (p.Tyr2645Phe)987LRBAUncertain significancers775871299RCV000824503; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223860151223860TA4:g.151223860T>A-
NM_001364905.1(LRBA):c.7918A>G (p.Ile2640Val)987LRBAUncertain significancers1729832911RCV001228499; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223876151223876TC4:g.151223876T>C-
NM_001364905.1(LRBA):c.7911G>A (p.Glu2637=)987LRBALikely benign-1RCV001436651; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223883151223883CT151223883-
NM_001364905.1(LRBA):c.7903C>A (p.Arg2635Ser)987LRBAUncertain significancers781028480RCV001203384; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223891151223891GT4:g.151223891G>T-
NM_001364905.1(LRBA):c.7903C>T (p.Arg2635Cys)987LRBAUncertain significancers781028480RCV001226964; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223891151223891GA4:g.151223891G>A-
NM_001364905.1(LRBA):c.7888G>A (p.Val2630Ile)987LRBAUncertain significancers564067785RCV001234453; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223906151223906CT4:g.151223906C>T-
NM_001364905.1(LRBA):c.7887C>T (p.Val2629=)987LRBALikely benignrs138897796RCV000927782; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223907151223907GA4:g.151223907G>A-
NM_001364905.1(LRBA):c.7887C>G (p.Val2629=)987LRBALikely benign-1RCV001445048; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223907151223907GC151223907-
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg)987LRBAConflicting interpretations of pathogenicityrs200295901RCV000987477; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223915151223915AG4:g.151223915A>G-
NM_001364905.1(LRBA):c.7878T>C (p.His2626=)987LRBALikely benignrs946590569RCV000650440; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223916151223916AG4:g.151223916A>GClinGen:CA108318834C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.7865T>C (p.Val2622Ala)987LRBAUncertain significancers541116943RCV000756315|RCV000808878; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223929151223929AG4:g.151223929A>G-
NM_001364905.1(LRBA):c.7859T>G (p.Ile2620Ser)987LRBAUncertain significancers777084152RCV000797107|RCV001766646; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151223935151223935AC4:g.151223935A>C-
NM_001364905.1(LRBA):c.7854A>G (p.Arg2618=)987LRBAUncertain significancers1429454160RCV001053662; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223940151223940TC4:g.151223940T>C-
NM_001364905.1(LRBA):c.7850-1G>A987LRBALikely pathogenicrs1729842757RCV001283807; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151223945151223945CT151223945-
NC_000004.12:g.(?_150310209)_(150350179_?)del987LRBAPathogenic-1RCV000708245; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151231361151271331nana-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.7849+10A>G987LRBABenignrs1813134RCV000455348|RCV001515470|RCV001613274; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151231371151231371TC4:g.151231371T>CClinGen:CA3101512CN169374 not specified;
NM_001364905.1(LRBA):c.7849+9_7849+10inv987LRBALikely benign-1RCV001410046; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151231371151231372TGCA151231371-
NM_001364905.1(LRBA):c.7840A>G (p.Thr2614Ala)987LRBAUncertain significancers148991943RCV000650407; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151231390151231390TC4:g.151231390T>CClinGen:CA3101517
NM_001364905.1(LRBA):c.7836_7840del (p.Ser2613fs)987LRBALikely pathogenicrs1580974401RCV000991430; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151231390151231394GTAGAAG4:g.151231390_151231394del-
NM_001364905.1(LRBA):c.7801G>A (p.Val2601Ile)987LRBAUncertain significancers565132015RCV000688428; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151231429151231429CT4:g.151231429C>T-
NM_001364905.1(LRBA):c.7800C>T (p.Leu2600=)987LRBALikely benign-1RCV001491611; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151231430151231430GA151231430-
NM_001364905.1(LRBA):c.7795A>G (p.Ile2599Val)987LRBAUncertain significancers1288341022RCV000788419|RCV001371500; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151231435151231435TC4:g.151231435T>C-
NM_001364905.1(LRBA):c.7790G>A (p.Arg2597His)987LRBAUncertain significancers753881814RCV001302935; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151231440151231440CT151231440-
NM_001364905.1(LRBA):c.7789C>T (p.Arg2597Cys)987LRBAUncertain significancers200700287RCV001044990; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151231441151231441GA4:g.151231441G>A-
NM_001364905.1(LRBA):c.7700A>G (p.Asn2567Ser)987LRBAUncertain significancers138569653RCV001345763; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151231530151231530TC151231530-
NM_001364905.1(LRBA):c.7694-6T>C987LRBALikely benign-1RCV001472579; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151231542151231542AG151231542-
NM_001364905.1(LRBA):c.7693+20C>T987LRBALikely benign-1RCV001398004; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151236693151236693GA151236693-
NM_001364905.1(LRBA):c.7690A>G (p.Ile2564Val)987LRBAUncertain significancers200047974RCV001053684; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151236716151236716TC4:g.151236716T>C-
NM_001364905.1(LRBA):c.7687C>T (p.Leu2563Phe)987LRBAUncertain significancers202014892RCV000660646; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151236719151236719GA4:g.151236719G>A-
NM_001364905.1(LRBA):c.7642G>T (p.Ala2548Ser)987LRBAUncertain significancers780327383RCV000650406; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151236764151236764CA4:g.151236764C>AClinGen:CA3101581C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.7637A>G (p.Gln2546Arg)987LRBAUncertain significancers769697590RCV000650412; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151236769151236769TC4:g.151236769T>CClinGen:CA3101582C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.7630+10G>C987LRBABenignrs57901153RCV000532946; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151242333151242333CG4:g.151242333C>GClinGen:CA3101595C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.7630+5G>A987LRBAUncertain significancers1732463939RCV001246175; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151242338151242338CT4:g.151242338C>T-
NM_001364905.1(LRBA):c.7605G>A (p.Ala2535=)987LRBALikely benignrs186768838RCV000893565; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151242368151242368CT4:g.151242368C>T-
NM_001364905.1(LRBA):c.7604C>T (p.Ala2535Val)987LRBAUncertain significancers377257515RCV001351603; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151242369151242369GA151242369-
NM_001364905.1(LRBA):c.7592A>G (p.Asn2531Ser)987LRBAUncertain significancers1581005435RCV001342966; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151242381151242381TC151242381-
NM_001364905.1(LRBA):c.7570G>A (p.Ala2524Thr)987LRBAUncertain significancers541209804RCV001052333; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151242403151242403CT4:g.151242403C>T-
NM_001364905.1(LRBA):c.7569C>T (p.Pro2523=)987LRBALikely benignrs1372828165RCV000554507; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151242404151242404GA4:g.151242404G>AClinGen:CA3101606
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro)987LRBAConflicting interpretations of pathogenicityrs62346982RCV000508516|RCV000544231|RCV000659001; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151242409151242409TG4:g.151242409T>GClinGen:CA3101609C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.7505A>G (p.Lys2502Arg)987LRBAUncertain significancers766530838RCV001034838; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151242468151242468TC4:g.151242468T>C-
NM_001364905.1(LRBA):c.7492A>G (p.Ile2498Val)987LRBAUncertain significancers781277906RCV001202530; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151242481151242481TC4:g.151242481T>C-
NM_001364905.1(LRBA):c.7464G>A (p.Met2488Ile)987LRBAUncertain significancers757105953RCV000702619; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151242509151242509CT4:g.151242509C>T-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.7404T>C (p.Ser2468=)987LRBABenignrs150550923RCV000650436; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151247009151247009AG4:g.151247009A>GClinGen:CA3101656
NM_001364905.1(LRBA):c.7403C>T (p.Ser2468Phe)987LRBAUncertain significancers760079780RCV000820966; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151247010151247010GA4:g.151247010G>A-
NM_001364905.1(LRBA):c.7364C>G (p.Ala2455Gly)987LRBAUncertain significancers542791563RCV000650424; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151247049151247049GC4:g.151247049G>CClinGen:CA3101661
NM_001364905.1(LRBA):c.7363-9C>G987LRBAUncertain significancers1733190248RCV001298673; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151247059151247059GC151247059-
NM_001364905.1(LRBA):c.7358G>A (p.Arg2453Lys)987LRBAUncertain significancers377302910RCV000791603; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151271148151271148CT4:g.151271148C>T-
NM_001364905.1(LRBA):c.7339A>G (p.Ile2447Val)987LRBAUncertain significancers754778401RCV001235819; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151271167151271167TC4:g.151271167T>C-
NM_001364905.1(LRBA):c.7321G>T (p.Ala2441Ser)987LRBAUncertain significancers965620037RCV001305295; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151271185151271185CA151271185-
NM_001364905.1(LRBA):c.7308G>A (p.Leu2436=)987LRBALikely benign-1RCV001436750; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151271198151271198CT151271198-
NM_001364905.1(LRBA):c.7292A>G (p.Asn2431Ser)987LRBAUncertain significancers972740124RCV000813546; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151271214151271214TC4:g.151271214T>C-
NM_001364905.1(LRBA):c.7283G>A (p.Arg2428Gln)987LRBAUncertain significancers139563734RCV001232245; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151271223151271223CT4:g.151271223C>T-
NM_001364905.1(LRBA):c.7266A>G (p.Gln2422=)987LRBAUncertain significancers1429158694RCV001230103; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151271240151271240TC4:g.151271240T>C-
NM_001364905.1(LRBA):c.7258A>G (p.Lys2420Glu)987LRBAUncertain significancers747502143RCV000797286; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151271248151271248TC4:g.151271248T>C-
NM_001364905.1(LRBA):c.7256A>C (p.Tyr2419Ser)987LRBAUncertain significancers376374926RCV000650421; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151271250151271250TG4:g.151271250T>GClinGen:CA3101695
NM_001364905.1(LRBA):c.7228C>T (p.His2410Tyr)987LRBAUncertain significancers761748510RCV001316053; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151271278151271278GA151271278-
NC_000004.12:g.(?_150415418)_(150817277_?)del987LRBAPathogenic-1RCV001033096; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151336570151738429nana-1-
NC_000004.11:g.(?_151336570)_(151604889_?)del987LRBAUncertain significance-1RCV001344477; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151336570151604889nana-1-
NC_000004.11:g.(?_151336570)_(151520303_?)del987LRBAPathogenic-1RCV001387903; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151336570151520303nana-1-
NM_001364905.1(LRBA):c.7187A>G (p.Asn2396Ser)987LRBAUncertain significancers149731019RCV000650409; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151336597151336597TC4:g.151336597T>CClinGen:CA3101717C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.7181A>G (p.His2394Arg)987LRBAUncertain significancers767456373RCV001229374; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151336603151336603TC4:g.151336603T>C-
NM_001364905.1(LRBA):c.7177G>A (p.Val2393Ile)987LRBAUncertain significancers202243949RCV001295246; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151336607151336607CT151336607-
NM_001364905.1(LRBA):c.7141G>A (p.Glu2381Lys)987LRBAUncertain significancers372702422RCV001349530; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151336643151336643CT151336643-
NM_001364905.1(LRBA):c.7115A>G (p.Asp2372Gly)987LRBAUncertain significancers565708911RCV000810712; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151336669151336669TC4:g.151336669T>C-
NM_001364905.1(LRBA):c.7098T>C (p.Tyr2366=)987LRBALikely benignrs751952359RCV000529309; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151336686151336686AG4:g.151336686A>GClinGen:CA3101730
NM_001364905.1(LRBA):c.7077G>A (p.Met2359Ile)987LRBAUncertain significancers146268782RCV000650402; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151336707151336707CT4:g.151336707C>TClinGen:CA3101736
NM_001364905.1(LRBA):c.7050C>A (p.Ile2350=)987LRBALikely benign-1RCV001402093; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151336734151336734GT151336734-
NM_001364905.1(LRBA):c.7022G>A (p.Arg2341His)987LRBAUncertain significancers371873204RCV001206505; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151356760151356760CT4:g.151356760C>T-
NM_001364905.1(LRBA):c.7021C>T (p.Arg2341Cys)987LRBAUncertain significancers139428686RCV000815106; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151356761151356761GA4:g.151356761G>A-
NM_001364905.1(LRBA):c.7016G>T (p.Ser2339Ile)987LRBABenignrs183574413RCV000966442; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151356766151356766CA4:g.151356766C>A-
NM_001364905.1(LRBA):c.7007G>A (p.Trp2336Ter)987LRBAPathogenicrs1581303476RCV000821001; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151356775151356775CT4:g.151356775C>T-
NM_001364905.1(LRBA):c.6999C>T (p.Ser2333=)987LRBALikely benign-1RCV001495994; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151356783151356783GA151356783-
NM_001364905.1(LRBA):c.6979C>A (p.Arg2327=)987LRBALikely benignrs773780828RCV000944153; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151356803151356803GT4:g.151356803G>T-
NM_001364905.1(LRBA):c.6978T>C (p.Asp2326=)987LRBALikely benignrs1172980980RCV000555425; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151356804151356804AG4:g.151356804A>GClinGen:CA441867122
NM_001364905.1(LRBA):c.6973G>T (p.Ala2325Ser)987LRBAUncertain significancers61742065RCV000796679; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151356809151356809CA4:g.151356809C>A-
NM_001364905.1(LRBA):c.6968A>G (p.Asp2323Gly)987LRBAUncertain significancers751277202RCV000795699; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151356814151356814TC4:g.151356814T>C-
NM_001364905.1(LRBA):c.6944T>A (p.Leu2315Gln)987LRBAUncertain significancers1751017555RCV001211972; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151356838151356838AT4:g.151356838A>T-
NM_001364905.1(LRBA):c.6941T>A (p.Phe2314Tyr)987LRBAUncertain significancers753022785RCV001305411; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151356841151356841AT151356841-
NM_001364905.1(LRBA):c.6921A>G (p.Ile2307Met)987LRBAUncertain significancers201643144RCV000805022|RCV001766673; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151357876151357876TC4:g.151357876T>C-
NM_001364905.1(LRBA):c.6915A>G (p.Leu2305=)987LRBALikely benign-1RCV001392372; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151357882151357882TC151357882-
NM_001364905.1(LRBA):c.6909G>A (p.Trp2303Ter)987LRBAPathogenic-1RCV001385408; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151357888151357888CT151357888-
NM_001364905.1(LRBA):c.6906A>G (p.Ala2302=)987LRBALikely benignrs142336513RCV000890051; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151357891151357891TC4:g.151357891T>C-
NM_001364905.1(LRBA):c.6895T>C (p.Phe2299Leu)987LRBAUncertain significancers760964920RCV001345847; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151357902151357902AG151357902-
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn)987LRBAConflicting interpretations of pathogenicityrs151286835RCV000178607|RCV001079177; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151357910151357910GT4:g.151357910G>TClinGen:CA245781CN169374 not specified;
NM_001364905.1(LRBA):c.6859A>G (p.Lys2287Glu)987LRBAUncertain significancers950337550RCV001214121; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151357938151357938TC4:g.151357938T>C-
NM_001364905.1(LRBA):c.6852A>C (p.Gln2284His)987LRBAUncertain significancers140538555RCV000688213; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151357945151357945TG4:g.151357945T>G-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.6850C>G (p.Gln2284Glu)987LRBAUncertain significancers755968022RCV001235419; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151357947151357947GC4:g.151357947G>C-
NM_001364905.1(LRBA):c.6848A>T (p.Asp2283Val)987LRBAUncertain significancers147096866RCV001221646; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151357949151357949TA4:g.151357949T>A-
NM_001364905.1(LRBA):c.6847G>A (p.Asp2283Asn)987LRBAUncertain significancers939898061RCV001267770; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151357950151357950CT4:g.151357950C>T-
NM_001364905.1(LRBA):c.6846T>A (p.Asp2282Glu)987LRBAUncertain significance-1RCV001358924; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151357951151357951AT151357951-
NM_001364905.1(LRBA):c.6830A>G (p.Tyr2277Cys)987LRBAUncertain significancers1751169644RCV001294357; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151357967151357967TC151357967-
NM_001364905.1(LRBA):c.6827G>A (p.Arg2276His)987LRBAUncertain significancers200802435RCV001038575|RCV001092646; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151357970151357970CT4:g.151357970C>T-
NM_001364905.1(LRBA):c.6826C>T (p.Arg2276Cys)987LRBAUncertain significancers373106840RCV001232271; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151357971151357971GA4:g.151357971G>A-
NM_001364905.1(LRBA):c.6819C>T (p.Phe2273=)987LRBALikely benign-1RCV001498277; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151357978151357978GA151357978-
NM_001364905.1(LRBA):c.6781-3C>T987LRBABenignrs58873298RCV000540561|RCV001644657; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151358019151358019GA4:g.151358019G>AClinGen:CA3101811
NM_001364905.1(LRBA):c.6780+8C>T987LRBALikely benignrs183029096RCV000956260; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151388817151388817GA4:g.151388817G>A-
NM_001364905.1(LRBA):c.6780+4A>T987LRBAUncertain significancers1755607891RCV001348116; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151388821151388821TA151388821-
NM_001364905.1(LRBA):c.6766A>G (p.Arg2256Gly)987LRBAUncertain significancers1561218846RCV000762141|RCV001368124; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151388839151388839TC4:g.151388839T>C-
NM_001364905.1(LRBA):c.6736G>A (p.Glu2246Lys)987LRBAUncertain significancers1581401791RCV000805392; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151388869151388869CT4:g.151388869C>T-
NM_001364905.1(LRBA):c.6718A>G (p.Thr2240Ala)987LRBAUncertain significancers202061746RCV000820843; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151388887151388887TC4:g.151388887T>C-
NM_001364905.1(LRBA):c.6712G>T (p.Val2238Phe)987LRBAUncertain significancers1554034100RCV000650418; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151388893151388893CA4:g.151388893C>AClinGen:CA358605776C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.6709del (p.Trp2237fs)987LRBAPathogenicrs1581401865RCV000987478; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151388896151388896CAC4:g.151388896_151388896del-
NM_001364905.1(LRBA):c.6670C>T (p.Arg2224Trp)987LRBAUncertain significancers763175357RCV001056462; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151388935151388935GA4:g.151388935G>A-
NM_001364905.1(LRBA):c.6668-5A>G987LRBALikely benignrs771495278RCV000940725|RCV001446629; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151388942151388942TC4:g.151388942T>C-
NM_001364905.1(LRBA):c.6667+5C>A987LRBAUncertain significancers751485504RCV001214427; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151392771151392771GT4:g.151392771G>T-
NM_001364905.1(LRBA):c.6662T>C (p.Ile2221Thr)987LRBAConflicting interpretations of pathogenicityrs116526975RCV000687803|RCV001508511; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151392781151392781AG4:g.151392781A>G-
NM_001364905.1(LRBA):c.6631A>G (p.Asn2211Asp)987LRBAUncertain significancers1756144820RCV001069309; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151392812151392812TC4:g.151392812T>C-
NM_001364905.1(LRBA):c.6624_6625del (p.Glu2208fs)987LRBAPathogenicrs727503779RCV000150103; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151392818151392819ATCA4:g.151392818_151392819delClinGen:CA175133,OMIM:606453.0005C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.6608G>A (p.Arg2203Gln)987LRBAUncertain significancers771140734RCV000818045; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151392835151392835CT4:g.151392835C>T-
NM_001364905.1(LRBA):c.6607C>T (p.Arg2203Ter)987LRBAPathogenic/Likely pathogenicrs1206185362RCV000998301|RCV001041360; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151392836151392836GA4:g.151392836G>A-
NM_001364905.1(LRBA):c.6575G>A (p.Arg2192His)987LRBAUncertain significancers372513836RCV000690789; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151392868151392868CT4:g.151392868C>T-
NM_001364905.1(LRBA):c.6574C>T (p.Arg2192Cys)987LRBAUncertain significancers200164280RCV000806097; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151392869151392869GA4:g.151392869G>A-
NM_001364905.1(LRBA):c.6554G>A (p.Arg2185His)987LRBAUncertain significancers760622773RCV001223073; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151392889151392889CT4:g.151392889C>T-
NM_001364905.1(LRBA):c.6519C>T (p.Gly2173=)987LRBALikely benign-1RCV001491067; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151408916151408916GA151408916-
NM_001364905.1(LRBA):c.6512G>A (p.Arg2171His)987LRBAUncertain significancers572317255RCV001244640; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151408923151408923CT4:g.151408923C>T-
NM_001364905.1(LRBA):c.6511C>T (p.Arg2171Cys)987LRBAUncertain significancers541771508RCV001062447; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151408924151408924GA4:g.151408924G>A-
NM_001364905.1(LRBA):c.6504T>C (p.Tyr2168=)987LRBALikely benign-1RCV001406682; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151408931151408931AG151408931-
NM_001364905.1(LRBA):c.6502T>C (p.Tyr2168His)987LRBAUncertain significancers768820309RCV001055696; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151408933151408933AG4:g.151408933A>G-
NM_001364905.1(LRBA):c.6472G>A (p.Asp2158Asn)987LRBAUncertain significancers145663124RCV001218968; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151408963151408963CT4:g.151408963C>T-
NM_001364905.1(LRBA):c.6448+17A>G987LRBAConflicting interpretations of pathogenicityrs183652080RCV001284819; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151412053151412053TC151412053-
NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149fs)987LRBALikely pathogenicrs1561254290RCV000768379; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151412070151412071CCTC4:g.151412070_151412071del-
NM_001364905.1(LRBA):c.6443A>G (p.Asn2148Ser)987LRBAUncertain significancers143949228RCV000414432|RCV000801747; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151412075151412075TC4:g.151412075T>CClinGen:CA3101942
NM_001364905.1(LRBA):c.6438G>C (p.Met2146Ile)987LRBAUncertain significancers199542511RCV000691620; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151412080151412080CG4:g.151412080C>G-
NM_001364905.1(LRBA):c.6424C>T (p.Leu2142=)987LRBALikely benignrs1438925105RCV000756316|RCV001478684; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151412094151412094GA4:g.151412094G>A-
NM_001364905.1(LRBA):c.6415A>G (p.Asn2139Asp)987LRBAUncertain significancers369815651RCV000819720; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151412103151412103TC4:g.151412103T>C-
NM_001364905.1(LRBA):c.6406C>G (p.Leu2136Val)987LRBAUncertain significancers1758858183RCV001216054; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151412112151412112GC4:g.151412112G>C-
NM_001364905.1(LRBA):c.6403T>C (p.Tyr2135His)987LRBAUncertain significancers749572803RCV000803167; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151412115151412115AG4:g.151412115A>G-
NM_001364905.1(LRBA):c.6396T>C (p.Ser2132=)987LRBALikely benignrs148229728RCV000884246; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151412122151412122AG4:g.151412122A>G-
NM_001364905.1(LRBA):c.6391T>C (p.Phe2131Leu)987LRBAUncertain significancers1277136491RCV001342002; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151412127151412127AG151412127-
NM_001364905.1(LRBA):c.6388A>G (p.Ile2130Val)987LRBAUncertain significancers373680922RCV000816034; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151412130151412130TC4:g.151412130T>C-
NM_001364905.1(LRBA):c.6387A>C (p.Ser2129=)987LRBABenignrs144748889RCV000650434; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151412131151412131TG4:g.151412131T>GClinGen:CA3101951
NM_001364905.1(LRBA):c.6378G>T (p.Glu2126Asp)987LRBAUncertain significancers377051616RCV000650414; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151412140151412140CA4:g.151412140C>AClinGen:CA3101954
NM_001364905.1(LRBA):c.6375A>G (p.Thr2125=)987LRBALikely benignrs541432702RCV000916663; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151412143151412143TC4:g.151412143T>C-
NM_001364905.1(LRBA):c.6331-8C>G987LRBALikely benignrs1581473443RCV000944608; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151412195151412195GC4:g.151412195G>C-
NM_001364905.1(LRBA):c.6331-14021C>T987LRBAUncertain significance-1RCV001591712; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151426208151426208GA151426208-
GRCh37/hg19 4q31.3(chr4:151441408-151719830)987LRBAPathogenic-1RCV001195152; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151441408151719830nana-1-
NC_000004.12:g.(?_150588028)_(150735386_?)del987LRBAPathogenic-1RCV000526034; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151509180151656538nana-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.6330+7_6330+9del987LRBALikely benign-1RCV001445969; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151509191151509193ATCTA151509190-
NM_001364905.1(LRBA):c.6322G>A (p.Asp2108Asn)987LRBAConflicting interpretations of pathogenicityrs142598024RCV000724775|RCV001087670; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151509208151509208CT4:g.151509208C>TClinGen:CA245583C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.6322G>C (p.Asp2108His)987LRBAUncertain significancers142598024RCV001317991; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151509208151509208CG151509208-
NM_001364905.1(LRBA):c.6321C>T (p.Ile2107=)987LRBALikely benignrs199753191RCV000650435; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151509209151509209GA4:g.151509209G>AClinGen:CA3102155C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.6273C>T (p.Ser2091=)987LRBALikely benignrs146901365RCV000998302|RCV001417037; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151509257151509257GA4:g.151509257G>A-
NM_001364905.1(LRBA):c.6234_6238delinsTTTT (p.Ser2079fs)987LRBAPathogenicrs1772348297RCV001239515; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151509292151509296CAGAGAAAA4:g.151509293_151509296del-
NM_001364905.1(LRBA):c.6226G>A (p.Val2076Met)987LRBAUncertain significancers151337867RCV001051858; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151509304151509304CT4:g.151509304C>T-
NM_001364905.1(LRBA):c.6223C>T (p.Leu2075Phe)987LRBAUncertain significancers1772352730RCV001332814; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151509307151509307GA151509307-
NM_001364905.1(LRBA):c.6214C>T (p.Pro2072Ser)987LRBAUncertain significancers140681994RCV000692501; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151509316151509316GA4:g.151509316G>A-
NM_001364905.1(LRBA):c.6192C>T (p.Ala2064=)987LRBAUncertain significancers201176491RCV000792885; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151511866151511866GA4:g.151511866G>A-
NM_001364905.1(LRBA):c.6183G>A (p.Glu2061=)987LRBALikely benign-1RCV001427269; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151511875151511875CT151511875-
NM_001364905.1(LRBA):c.6179T>C (p.Leu2060Ser)987LRBAUncertain significancers772616092RCV000703335; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151511879151511879AG4:g.151511879A>G-
NM_001364905.1(LRBA):c.6163G>A (p.Val2055Met)987LRBALikely benignrs138428438RCV000530255|RCV000598334; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN1693744151511895151511895CT4:g.151511895C>TClinGen:CA3102199
NM_001364905.1(LRBA):c.6155T>C (p.Leu2052Pro)987LRBAUncertain significancers1013684276RCV001038249; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151511903151511903AG4:g.151511903A>G-
NM_001364905.1(LRBA):c.6154C>G (p.Leu2052Val)987LRBAUncertain significancers1424902216RCV001295039; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151511904151511904GC151511904-
NM_001364905.1(LRBA):c.6133C>T (p.Leu2045=)987LRBALikely benign-1RCV001495177; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151511925151511925GA151511925-
NM_001364905.1(LRBA):c.6129C>G (p.Ile2043Met)987LRBAUncertain significancers752490558RCV001338049; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151511929151511929GC151511929-
NM_001364905.1(LRBA):c.6078A>G (p.Lys2026=)987LRBALikely benign-1RCV001471248; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151511980151511980TC151511980-
NM_001364905.1(LRBA):c.6074G>A (p.Gly2025Glu)987LRBAUncertain significancers778545671RCV000592694|RCV000820810; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151511984151511984CT4:g.151511984C>TClinGen:CA3102210
NM_001364905.1(LRBA):c.6069T>C (p.Ala2023=)987LRBALikely benign-1RCV001414676; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151511989151511989AG151511989-
NM_001364905.1(LRBA):c.6053A>G (p.Asp2018Gly)987LRBAUncertain significancers891747847RCV001223841; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151512005151512005TC4:g.151512005T>C-
NM_001364905.1(LRBA):c.6049A>C (p.Thr2017Pro)987LRBAUncertain significancers371434395RCV000703827|RCV001508512; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151512009151512009TG4:g.151512009T>G-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.6047-19T>C987LRBALikely benign-1RCV001464418; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151512030151512030AG151512030-
NM_001364905.1(LRBA):c.6046+1919G>A987LRBAUncertain significancers753014789RCV000804651; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151518240151518240CT4:g.151518240C>T-
NM_001364905.1(LRBA):c.6046+1917C>A987LRBAUncertain significancers1561404167RCV001231802; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151518242151518242GT4:g.151518242G>T-
NM_001364905.1(LRBA):c.6046+1904A>G987LRBAUncertain significancers908422044RCV000650416; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151518255151518255TC4:g.151518255T>CClinGen:CA108379552C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.6046+1886T>C987LRBABenign/Likely benignrs72959815RCV000593414|RCV000910264; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151518273151518273AG4:g.151518273A>GClinGen:CA3102261CN169374 not specified;
NM_001364905.1(LRBA):c.6046+1883_6046+1884del987LRBALikely benign-1RCV001446901; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151518275151518276CATC151518274-
NM_001364905.1(LRBA):c.6046+7G>T987LRBAConflicting interpretations of pathogenicityrs376126419RCV000925009|RCV001281017; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520152151520152CA4:g.151520152C>A-
NM_001364905.1(LRBA):c.6046+6T>C987LRBAUncertain significancers368457090RCV001312326; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520153151520153AG151520153-
NM_001364905.1(LRBA):c.6036C>T (p.Ala2012=)987LRBAConflicting interpretations of pathogenicityrs145411537RCV000960528|RCV001200459; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151520169151520169GA4:g.151520169G>A-
NM_001364905.1(LRBA):c.6027A>G (p.Leu2009=)987LRBALikely benignrs1360033777RCV000944419|RCV001492708; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520178151520178TC4:g.151520178T>C-
NM_001364905.1(LRBA):c.6010C>T (p.His2004Tyr)987LRBAUncertain significancers774329680RCV000811547; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520195151520195GA4:g.151520195G>A-
NM_001364905.1(LRBA):c.6000A>G (p.Leu2000=)987LRBALikely benign-1RCV001409768; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520205151520205TC151520205-
NM_001364905.1(LRBA):c.5995C>G (p.Pro1999Ala)987LRBAUncertain significancers1773825064RCV001350443; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520210151520210GC151520210-
NM_001364905.1(LRBA):c.5989C>T (p.Arg1997Cys)987LRBABenign/Likely benignrs35879351RCV000454936|RCV000552960|RCV001724008; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151520216151520216GA4:g.151520216G>AClinGen:CA3102284C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.5982A>G (p.Arg1994=)987LRBAUncertain significancers1401577530RCV001036549; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520223151520223TC4:g.151520223T>C-
NM_001364905.1(LRBA):c.5980C>T (p.Arg1994Ter)987LRBAPathogenic-1RCV001383085; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520225151520225GA151520225-
NM_001364905.1(LRBA):c.5966T>C (p.Leu1989Ser)987LRBAUncertain significance-1RCV001369723; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520239151520239AG151520239-
NM_001364905.1(LRBA):c.5962G>A (p.Asp1988Asn)987LRBAUncertain significancers372448263RCV000792907; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520243151520243CT4:g.151520243C>T-
NM_001364905.1(LRBA):c.5946T>C (p.Leu1982=)987LRBALikely benign-1RCV001449211; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520259151520259AG151520259-
NM_001364905.1(LRBA):c.5942G>A (p.Arg1981His)987LRBAUncertain significancers780262611RCV000702736; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520263151520263CT4:g.151520263C>T-
NM_001364905.1(LRBA):c.5941C>T (p.Arg1981Cys)987LRBAUncertain significancers148699393RCV001202889; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520264151520264GA4:g.151520264G>A-
NM_001364905.1(LRBA):c.5924G>A (p.Arg1975His)987LRBAUncertain significancers749149796RCV001201609; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520281151520281CT4:g.151520281C>T-
NM_001364905.1(LRBA):c.5923C>T (p.Arg1975Cys)987LRBAUncertain significancers551089193RCV001229388; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520282151520282GA4:g.151520282G>A-
NM_001364905.1(LRBA):c.5922T>C (p.Ser1974=)987LRBAUncertain significancers778753560RCV001225482; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151520283151520283AG4:g.151520283A>G-
NC_000004.11:g.(?_151604683)_(151935814_?)dup987LRBAUncertain significance-1RCV000708051; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604683151935814nana-
NC_000004.12:g.(?_150683531)_(150735386_?)del987LRBAUncertain significance-1RCV000815925; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604683151656538nana-
NC_000004.12:g.(?_150683531)_(150761867_?)del987LRBAPathogenic-1RCV001032812; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604683151683019nana-1-
NC_000004.11:g.(?_151604683)_(151604889_?)del987LRBAPathogenic-1RCV001387902; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604683151604889nana-1-
NM_001364905.1(LRBA):c.5921+17A>G987LRBALikely benign-1RCV001479266; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604686151604686TC151604686-
NM_001364905.1(LRBA):c.5921+10T>C987LRBALikely benign-1RCV001497808; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604693151604693AG151604693-
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)987LRBAConflicting interpretations of pathogenicityrs745608560RCV000798682|RCV000998304; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151604718151604718CG4:g.151604718C>G-
NM_001364905.1(LRBA):c.5905G>C (p.Gly1969Arg)987LRBAUncertain significance-1RCV001361078; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604719151604719CG151604719-
NM_001364905.1(LRBA):c.5899G>A (p.Ala1967Thr)987LRBAUncertain significancers141395658RCV000813647; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604725151604725CT4:g.151604725C>T-
NM_001364905.1(LRBA):c.5885C>T (p.Thr1962Ile)987LRBAUncertain significancers1783242709RCV001037175; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604739151604739GA4:g.151604739G>A-
NM_001364905.1(LRBA):c.5883C>T (p.Leu1961=)987LRBALikely benign-1RCV001465663; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604741151604741GA151604741-
NM_001364905.1(LRBA):c.5877C>T (p.Asn1959=)987LRBALikely benignrs1582033640RCV000969360|RCV001405504; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604747151604747GA4:g.151604747G>A-
NM_001364905.1(LRBA):c.5876A>G (p.Asn1959Ser)987LRBAUncertain significancers369187914RCV001350024; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604748151604748TC151604748-
NM_001364905.1(LRBA):c.5857C>G (p.Leu1953Val)987LRBAUncertain significancers1385577128RCV000817196; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604767151604767GC4:g.151604767G>C-
NM_001364905.1(LRBA):c.5841C>T (p.His1947=)987LRBALikely benign-1RCV001433690; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604783151604783GA151604783-
NM_001364905.1(LRBA):c.5831A>G (p.Tyr1944Cys)987LRBAUncertain significancers150829802RCV000700652; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604793151604793TC4:g.151604793T>C-
NM_001364905.1(LRBA):c.5757A>G (p.Ser1919=)987LRBALikely benign-1RCV001493538; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604867151604867TC151604867-
NM_001364905.1(LRBA):c.5755-4C>G987LRBALikely benign-1RCV001483991; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604873151604873GC151604873-
NM_001364905.1(LRBA):c.5755-5C>A987LRBAUncertain significance-1RCV001362445; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604874151604874GT151604874-
NM_001364905.1(LRBA):c.5755-6T>G987LRBAUncertain significancers760614212RCV001300639; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151604875151604875AC151604875-
GRCh37/hg19 4q31.3(chr4:151622552-151657380)987LRBAPathogenic-1RCV001195153; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151622552151657380nana-1-
NC_000004.12:g.(?_150735238)_(150929085_?)del987LRBAUncertain significance-1RCV000805295; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151656390151850237nana-
NC_000004.12:g.(?_150735238)_(150735386_?)del987LRBAPathogenic-1RCV001032403; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151656390151656538nana-1-
NM_001364905.1(LRBA):c.5754+15T>C987LRBAUncertain significancers112952572RCV001335459; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151656395151656395AG151656395-
NM_001364905.1(LRBA):c.5754+8A>G987LRBALikely benign-1RCV001398075; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151656402151656402TC151656402-
NM_001364905.1(LRBA):c.5754+4G>A987LRBAUncertain significancers751363369RCV001215330; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151656406151656406CT4:g.151656406C>T-
NM_001364905.1(LRBA):c.5744C>T (p.Ala1915Val)987LRBAUncertain significancers201500267RCV000802234; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151656420151656420GA4:g.151656420G>A-
NM_001364905.1(LRBA):c.5718G>C (p.Gln1906His)987LRBAUncertain significancers1731041610RCV001343061; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151656446151656446CG151656446-
NM_001364905.1(LRBA):c.5689A>G (p.Asn1897Asp)987LRBAUncertain significancers747452859RCV001206067; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151656475151656475TC4:g.151656475T>C-
NC_000004.11:g.(?_151682915)_(151935814_?)dup987LRBAUncertain significance-1RCV000708457; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151682915151935814nana-
NC_000004.12:g.(?_150761763)_(150761867_?)del987LRBAPathogenic-1RCV001033784; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151682915151683019nana-1-
NM_001364905.1(LRBA):c.5645+2T>A987LRBALikely pathogenicrs1181595292RCV000818893; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151682933151682933AT4:g.151682933A>T-
NM_001364905.1(LRBA):c.5631T>C (p.Leu1877=)987LRBALikely benign-1RCV001425419; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151682949151682949AG151682949-
NM_001364905.1(LRBA):c.5581-14dup987LRBABenignrs760075270RCV000542598; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151683003151683004TTA4:g.151683003_151683004insAClinGen:CA3102424C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.5581-5T>C987LRBALikely benign-1RCV001407406; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151683004151683004AG151683004-
NM_001364905.1(LRBA):c.5581-5del987LRBABenign-1RCV001512216; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151683004151683004TAT151683003-
NM_001364905.1(LRBA):c.5581-12T>C987LRBABenign-1RCV001514523; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151683011151683011AG151683011-
NM_001364905.1(LRBA):c.5580+5G>A987LRBAUncertain significancers376347820RCV001203547; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151719228151719228CT4:g.151719228C>T-
NM_001364905.1(LRBA):c.5550T>C (p.Val1850=)987LRBABenignrs1129998RCV000456095|RCV001511565|RCV001692115; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151719263151719263AG4:g.151719263A>GClinGen:CA3102445
NM_001364905.1(LRBA):c.5548G>C (p.Val1850Leu)987LRBAUncertain significancers765993573RCV001059194; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151719265151719265CG4:g.151719265C>G-
NM_001364905.1(LRBA):c.5537C>T (p.Ser1846Leu)987LRBAUncertain significancers751188122RCV000650413; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151719276151719276GA4:g.151719276G>AClinGen:CA3102447C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.5525T>C (p.Val1842Ala)987LRBAUncertain significancers954969000RCV000697428; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151719288151719288AG4:g.151719288A>G-
NM_001364905.1(LRBA):c.5519-1G>A987LRBALikely pathogenicrs1302362911RCV001065753; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151719295151719295CT4:g.151719295C>T-
NM_001364905.1(LRBA):c.5519-7A>G987LRBALikely benignrs1578813761RCV000978896|RCV001410034; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151719301151719301TC4:g.151719301T>C-
NM_001364905.1(LRBA):c.5502G>A (p.Leu1834=)987LRBALikely benignrs1002015795RCV001310497|RCV001480721; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151727439151727439CT151727439-
NM_001364905.1(LRBA):c.5470C>T (p.Arg1824Trp)987LRBAUncertain significancers374719524RCV001332813; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151727471151727471GA151727471-
NM_001364905.1(LRBA):c.5460T>G (p.Pro1820=)987LRBALikely benignrs565770808RCV000650441; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151727481151727481AC4:g.151727481A>CClinGen:CA3102481C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.5442T>C (p.Ile1814=)987LRBALikely benign-1RCV001404332; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151727499151727499AG151727499-
NM_001364905.1(LRBA):c.5435G>C (p.Arg1812Pro)987LRBAUncertain significancers770711457RCV000814120; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151727506151727506CG4:g.151727506C>G-
NM_001364905.1(LRBA):c.5406C>T (p.His1802=)987LRBALikely benignrs764506241RCV000975368|RCV001486241; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151727535151727535GA4:g.151727535G>A-
NM_001364905.1(LRBA):c.5401G>A (p.Glu1801Lys)987LRBAUncertain significancers199596976RCV001204418; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151727540151727540CT4:g.151727540C>T-
NM_001364905.1(LRBA):c.5384+10C>A987LRBALikely benignrs372667151RCV000922035|RCV001496687; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151729462151729462GT4:g.151729462G>T-
NM_001364905.1(LRBA):c.5384+6T>G987LRBAUncertain significancers1578850415RCV000823098; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151729466151729466AC4:g.151729466A>C-
NM_001364905.1(LRBA):c.5370G>A (p.Pro1790=)987LRBALikely benign-1RCV001414412; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151729486151729486CT151729486-
NM_001364905.1(LRBA):c.5345C>G (p.Thr1782Arg)987LRBAUncertain significancers145849065RCV001067318; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151729511151729511GC4:g.151729511G>C-
NM_001364905.1(LRBA):c.5306-3T>C987LRBAUncertain significancers1743112710RCV001302335; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151729553151729553AG151729553-
NM_001364905.1(LRBA):c.5305+9G>A987LRBALikely benign-1RCV001445814; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151738267151738267CT151738267-
NM_001364905.1(LRBA):c.5305+3G>A987LRBAUncertain significancers1744714356RCV001215279; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151738273151738273CT4:g.151738273C>T-
NM_001364905.1(LRBA):c.5293G>A (p.Gly1765Arg)987LRBAUncertain significancers368450966RCV001206607; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151738288151738288CT4:g.151738288C>T-
NM_001364905.1(LRBA):c.5273C>T (p.Ala1758Val)987LRBAUncertain significancers1443158958RCV001321759; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151738308151738308GA151738308-
NM_001364905.1(LRBA):c.5272G>A (p.Ala1758Thr)987LRBAUncertain significancers757135525RCV001226280; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151738309151738309CT4:g.151738309C>T-
NM_001364905.1(LRBA):c.5267A>G (p.Asp1756Gly)987LRBAUncertain significancers867315755RCV001346048; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151738314151738314TC151738314-
NM_001364905.1(LRBA):c.5241T>C (p.Asn1747=)987LRBABenign/Likely benignrs72719631RCV000487914|RCV001081682; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151738340151738340AG4:g.151738340A>GClinGen:CA3102542C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.5240A>G (p.Asn1747Ser)987LRBAUncertain significancers1578877639RCV000816038; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151738341151738341TC4:g.151738341T>C-
NM_001364905.1(LRBA):c.5219T>G (p.Phe1740Cys)987LRBAUncertain significancers1314663542RCV000818603; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151738362151738362AC4:g.151738362A>C-
NM_001364905.1(LRBA):c.5207C>T (p.Ser1736Leu)987LRBAUncertain significancers754411956RCV001035745; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151738374151738374GA4:g.151738374G>A-
NM_001364905.1(LRBA):c.5190A>T (p.Ala1730=)987LRBALikely benign-1RCV001475384; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151738391151738391TA151738391-
NM_001364905.1(LRBA):c.5189C>G (p.Ala1730Gly)987LRBAUncertain significancers1744736366RCV001065157; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151738392151738392GC4:g.151738392G>C-
NM_001364905.1(LRBA):c.5180T>C (p.Ile1727Thr)987LRBAUncertain significancers371855769RCV000824543; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151738401151738401AG4:g.151738401A>G-
NM_001364905.1(LRBA):c.5171+20G>A987LRBABenign/Likely benignrs116225517RCV000514658|RCV001289810; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749312151749312CT4:g.151749312C>TClinGen:CA3102567CN517202 not provided;
NM_001364905.1(LRBA):c.5171+10A>G987LRBALikely benign-1RCV001452770; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749322151749322TC151749322-
NM_001364905.1(LRBA):c.5125_5152dup (p.Gln1718delinsArgTer)987LRBAPathogenic-1RCV001381549; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749350151749351TTGCACGGGTTGTTCCACAGATAGATCACC151749350-
NM_001364905.1(LRBA):c.5149G>A (p.Val1717Met)987LRBAUncertain significancers143003767RCV000650408; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749354151749354CT4:g.151749354C>TClinGen:CA3102571
NM_001364905.1(LRBA):c.5148C>T (p.Pro1716=)987LRBALikely benign-1RCV001473781; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749355151749355GA151749355-
NM_001364905.1(LRBA):c.5136T>C (p.Ser1712=)987LRBALikely benignrs1578911494RCV000932771|RCV001435903; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749367151749367AG4:g.151749367A>G-
NM_001364905.1(LRBA):c.5133A>G (p.Leu1711=)987LRBALikely benign-1RCV001454533; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749370151749370TC151749370-
NM_001364905.1(LRBA):c.5121C>T (p.Ala1707=)987LRBALikely benign-1RCV001423955; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749382151749382GA151749382-
NM_001364905.1(LRBA):c.5114T>G (p.Leu1705Arg)987LRBAUncertain significancers920037636RCV001041053; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749389151749389AC4:g.151749389A>C-
NM_001364905.1(LRBA):c.5104C>T (p.Pro1702Ser)987LRBAUncertain significancers1245779236RCV001326370; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749399151749399GA151749399-
NM_001364905.1(LRBA):c.5100G>T (p.Leu1700=)987LRBABenignrs61741557RCV000527722; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749403151749403CA4:g.151749403C>AClinGen:CA3102580C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.5084T>C (p.Val1695Ala)987LRBAUncertain significancers200935054RCV000549328; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749419151749419AG4:g.151749419A>GClinGen:CA3102582
NM_001364905.1(LRBA):c.5066C>T (p.Pro1689Leu)987LRBAUncertain significancers779150358RCV000796997; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749437151749437GA4:g.151749437G>A-
NM_001364905.1(LRBA):c.5062A>G (p.Ile1688Val)987LRBAUncertain significancers746205437RCV000695778; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749441151749441TC4:g.151749441T>C-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.5062A>C (p.Ile1688Leu)987LRBAUncertain significance-1RCV001363788; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749441151749441TG151749441-
NM_001364905.1(LRBA):c.5048G>A (p.Arg1683Gln)987LRBAUncertain significancers369969505RCV000801595; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749455151749455CT4:g.151749455C>T-
NM_001364905.1(LRBA):c.5047C>T (p.Arg1683Ter)987LRBAPathogenicrs199469662RCV000029135; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749456151749456GA4:g.151749456G>AClinGen:CA129910,OMIM:606453.0002C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.5046C>T (p.Leu1682=)987LRBALikely benign-1RCV001490263; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749457151749457GA151749457-
NM_001364905.1(LRBA):c.5031T>C (p.Asn1677=)987LRBABenignrs114738831RCV000960529; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749472151749472AG4:g.151749472A>G-
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser)987LRBAConflicting interpretations of pathogenicityrs17027133RCV000727921|RCV000757439|RCV001079811; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749473151749473TC4:g.151749473T>CClinGen:CA3102596
NM_001364905.1(LRBA):c.5026G>A (p.Val1676Ile)987LRBAUncertain significancers199597592RCV000650410; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749477151749477CT4:g.151749477C>TClinGen:CA3102597
NM_001364905.1(LRBA):c.5024A>C (p.Asn1675Thr)987LRBAUncertain significancers1578912127RCV000807851; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749479151749479TG4:g.151749479T>G-
NM_001364905.1(LRBA):c.5012C>T (p.Ser1671Leu)987LRBAUncertain significancers137952521RCV001339756; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749491151749491GA151749491-
NM_001364905.1(LRBA):c.5004G>A (p.Pro1668=)987LRBAConflicting interpretations of pathogenicityrs775567440RCV000268827|RCV000538957; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749499151749499CT4:g.151749499C>TClinGen:CA3102602C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.4996G>A (p.Ala1666Thr)987LRBAUncertain significancers757002725RCV001297186; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749507151749507CT151749507-
NM_001364905.1(LRBA):c.4976G>C (p.Gly1659Ala)987LRBAUncertain significancers142546017RCV001057502; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749527151749527CG4:g.151749527C>G-
NM_001364905.1(LRBA):c.4970A>T (p.Asp1657Val)987LRBAUncertain significancers1191459379RCV001209052; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749533151749533TA4:g.151749533T>A-
NM_001364905.1(LRBA):c.4963A>G (p.Lys1655Glu)987LRBAUncertain significancers755415978RCV001055945; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749540151749540TC4:g.151749540T>C-
NM_001364905.1(LRBA):c.4956G>A (p.Pro1652=)987LRBALikely benignrs150144210RCV000918311; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749547151749547CT4:g.151749547C>T-
NM_001364905.1(LRBA):c.4947T>A (p.Asn1649Lys)987LRBAUncertain significancers200578734RCV000793282; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749556151749556AT4:g.151749556A>T-
NM_001364905.1(LRBA):c.4946A>G (p.Asn1649Ser)987LRBAUncertain significancers373049835RCV000697647; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749557151749557TC4:g.151749557T>C-
NM_001364905.1(LRBA):c.4930C>G (p.Leu1644Val)987LRBAUncertain significancers149324157RCV000396523|RCV001368776; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749573151749573GC4:g.151749573G>CClinGen:CA3102622CN169374 not specified;
NM_001364905.1(LRBA):c.4918G>A (p.Val1640Met)987LRBAUncertain significance-1RCV001371526; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749585151749585CT151749585-
NM_001364905.1(LRBA):c.4911C>T (p.Ile1637=)987LRBABenign-1RCV001520117; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749592151749592GA151749592-
NM_001364905.1(LRBA):c.4901C>T (p.Pro1634Leu)987LRBAUncertain significancers138285961RCV000820988; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749602151749602GA4:g.151749602G>A-
NM_001364905.1(LRBA):c.4887T>C (p.Gly1629=)987LRBALikely benignrs1578912779RCV000928169|RCV001447087; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749616151749616AG4:g.151749616A>G-
NM_001364905.1(LRBA):c.4876_4877delinsTT (p.Ala1626Leu)987LRBAUncertain significancers1560877215RCV000704691; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749626151749627GCAANC_000004.11:g.151749626_151749627delinsAA-
NM_001364905.1(LRBA):c.4877C>T (p.Ala1626Val)987LRBAUncertain significancers377211427RCV001227747; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749626151749626GA4:g.151749626G>A-
NM_001364905.1(LRBA):c.4855G>T (p.Val1619Leu)987LRBAUncertain significancers143883830RCV000698540; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749648151749648CA4:g.151749648C>A-
NM_001364905.1(LRBA):c.4836C>T (p.Ala1612=)987LRBALikely benign-1RCV001433477; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749667151749667GA151749667-
NM_001364905.1(LRBA):c.4830A>G (p.Glu1610=)987LRBALikely benign-1RCV001448394; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749673151749673TC151749673-
NM_001364905.1(LRBA):c.4820T>C (p.Ile1607Thr)987LRBAUncertain significancers935267881RCV001302107; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749683151749683AG151749683-
NM_001364905.1(LRBA):c.4817G>T (p.Gly1606Val)987LRBAUncertain significancers749320751RCV000705640; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749686151749686CA4:g.151749686C>A-
NM_001364905.1(LRBA):c.4801C>T (p.Arg1601Ter)987LRBALikely pathogenicrs1484948342RCV000756318|RCV001594404; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749702151749702GA4:g.151749702G>A-
NM_001364905.1(LRBA):c.4764G>T (p.Thr1588=)987LRBALikely benignrs144797074RCV000944410|RCV001405137; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749739151749739CA4:g.151749739C>A-
NM_001364905.1(LRBA):c.4730-8T>C987LRBAUncertain significancers1298750234RCV001045989; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151749781151749781AG4:g.151749781A>G-
NM_001364905.1(LRBA):c.4723C>T (p.Leu1575Phe)987LRBAUncertain significancers1182264315RCV001237274|RCV001732086; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151752975151752975GA4:g.151752975G>A-
NM_001364905.1(LRBA):c.4714A>T (p.Asn1572Tyr)987LRBAUncertain significancers368533356RCV001229073; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151752984151752984TA4:g.151752984T>A-
NM_001364905.1(LRBA):c.4713G>A (p.Glu1571=)987LRBABenignrs75761402RCV000650443; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151752985151752985CT4:g.151752985C>TClinGen:CA3102678
NM_001364905.1(LRBA):c.4702A>T (p.Ser1568Cys)987LRBAUncertain significancers150060009RCV001046942; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151752996151752996TA4:g.151752996T>A-
NM_001364905.1(LRBA):c.4694A>G (p.Glu1565Gly)987LRBAUncertain significancers200641170RCV001348925; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151753004151753004TC151753004-
NM_001364905.1(LRBA):c.4688G>T (p.Cys1563Phe)987LRBAUncertain significancers745528043RCV001314860; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151753010151753010CA151753010-
NM_001364905.1(LRBA):c.4687T>G (p.Cys1563Gly)987LRBAUncertain significancers771673853RCV001342523; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151753011151753011AC151753011-
NM_001364905.1(LRBA):c.4674G>A (p.Arg1558=)987LRBALikely benign-1RCV001442416; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151753024151753024CT151753024-
NM_001364905.1(LRBA):c.4651A>G (p.Ile1551Val)987LRBAUncertain significancers200818717RCV001042601; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151753047151753047TC4:g.151753047T>C-
NM_001364905.1(LRBA):c.4633G>C (p.Val1545Leu)987LRBAUncertain significancers1747252328RCV001202816; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151753065151753065CG4:g.151753065C>G-
NM_001364905.1(LRBA):c.4618A>C (p.Ile1540Leu)987LRBAUncertain significancers550389924RCV001332812; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151753080151753080TG151753080-
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val)987LRBAConflicting interpretations of pathogenicityrs114610541RCV000659003|RCV000999910; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151753107151753107AC4:g.151753107A>CClinGen:CA3102698C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.4577G>A (p.Ser1526Asn)987LRBAUncertain significance-1RCV001369047; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151753121151753121CT151753121-
NM_001364905.1(LRBA):c.4570-13dup987LRBABenign-1RCV001518212; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151753133151753134GGA151753133-
NM_001364905.1(LRBA):c.4570-6del987LRBABenignrs145452262RCV000528648; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151753134151753134GAG4:g.151753134_151753134delClinGen:CA3102704
NM_001364905.1(LRBA):c.4570-6T>A987LRBAUncertain significancers199536668RCV000801018; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151753134151753134AT4:g.151753134A>T-
NM_001364905.1(LRBA):c.4569+9C>T987LRBABenignrs186080RCV000176879|RCV001519767; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765243151765243GA4:g.151765243G>AClinGen:CA202158CN169374 not specified;
NM_001364905.1(LRBA):c.4563A>T (p.Arg1521Ser)987LRBAUncertain significancers768287088RCV001043067; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765258151765258TA4:g.151765258T>A-
NM_001364905.1(LRBA):c.4542G>T (p.Arg1514=)987LRBALikely benignrs144008169RCV000981934|RCV001411837; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765279151765279CA4:g.151765279C>A-
NM_001364905.1(LRBA):c.4515G>A (p.Arg1505=)987LRBALikely benignrs774425640RCV000979434; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765306151765306CT4:g.151765306C>T-
NM_001364905.1(LRBA):c.4513A>G (p.Arg1505Gly)987LRBAUncertain significancers140925698RCV001201523; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765308151765308TC4:g.151765308T>C-
NM_001364905.1(LRBA):c.4491A>G (p.Ile1497Met)987LRBAUncertain significancers1188950363RCV001043068; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765330151765330TC4:g.151765330T>C-
NM_001364905.1(LRBA):c.4486G>A (p.Gly1496Ser)987LRBAUncertain significance-1RCV001373585; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765335151765335CT151765335-
NM_001364905.1(LRBA):c.4485C>T (p.Gly1495=)987LRBABenignrs11735845RCV000455631|RCV000550244; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765336151765336GA4:g.151765336G>AClinGen:CA3102742
NM_001364905.1(LRBA):c.4458G>A (p.Ala1486=)987LRBALikely benignrs191487039RCV000977145|RCV001480124; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765813151765813CT4:g.151765813C>T-
NM_001364905.1(LRBA):c.4457C>T (p.Ala1486Val)987LRBAUncertain significancers149639181RCV001208915; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765814151765814GA4:g.151765814G>A-
NM_001364905.1(LRBA):c.4454C>T (p.Ala1485Val)987LRBAUncertain significance-1RCV001371433; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765817151765817GA151765817-
NM_001364905.1(LRBA):c.4442T>C (p.Leu1481Ser)987LRBAUncertain significance-1RCV001362420; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765829151765829AG151765829-
NM_001364905.1(LRBA):c.4432C>G (p.Leu1478Val)987LRBAUncertain significancers1749597689RCV001324602; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765839151765839GC151765839-
NM_001364905.1(LRBA):c.4420C>T (p.Pro1474Ser)987LRBAUncertain significancers964321808RCV001215596; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765851151765851GA4:g.151765851G>A-
NM_001364905.1(LRBA):c.4416G>A (p.Leu1472=)987LRBALikely benignrs746401908RCV001000661; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765855151765855CT4:g.151765855C>T-
NM_001364905.1(LRBA):c.4408A>G (p.Lys1470Glu)987LRBAUncertain significancers1342875285RCV001350458; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765863151765863TC151765863-
NM_001364905.1(LRBA):c.4404A>C (p.Gly1468=)987LRBALikely benignrs747039424RCV000982076|RCV001402465; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765867151765867TG4:g.151765867T>G-
NM_001364905.1(LRBA):c.4389A>G (p.Gln1463=)987LRBALikely benign-1RCV001436986; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765882151765882TC151765882-
NM_001364905.1(LRBA):c.4377A>G (p.Gln1459=)987LRBALikely benignrs373062327RCV000899430; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765894151765894TC4:g.151765894T>C-
NM_001364905.1(LRBA):c.4371G>T (p.Glu1457Asp)987LRBAUncertain significancers759579204RCV000816565; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765900151765900CA4:g.151765900C>A-
NM_001364905.1(LRBA):c.4351G>A (p.Ala1451Thr)987LRBAUncertain significancers747397724RCV001341000; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765920151765920CT151765920-
NM_001364905.1(LRBA):c.4340-3C>A987LRBAUncertain significancers1749616792RCV001317151; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151765934151765934GT151765934-
NM_001364905.1(LRBA):c.4339+18G>A987LRBALikely benign-1RCV001431392; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151769952151769952CT151769952-
NM_001364905.1(LRBA):c.4339+8_4339+10del987LRBALikely benignrs747732978RCV000943608|RCV001489755; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151769960151769962TAGCT4:g.151769960_151769962del-
NM_001364905.1(LRBA):c.4338A>G (p.Leu1446=)987LRBAConflicting interpretations of pathogenicityrs201059532RCV000728253|RCV001088616; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151769971151769971TC4:g.151769971T>C-
NM_001364905.1(LRBA):c.4323G>A (p.Arg1441=)987LRBALikely benignrs145003932RCV000650442; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151769986151769986CT4:g.151769986C>TClinGen:CA3102835
NM_001364905.1(LRBA):c.4323G>T (p.Arg1441=)987LRBABenignrs145003932RCV000966443; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151769986151769986CA4:g.151769986C>A-
NM_001364905.1(LRBA):c.4321C>T (p.Arg1441Trp)987LRBAUncertain significancers1424674965RCV001050183; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151769988151769988GA4:g.151769988G>A-
NM_001364905.1(LRBA):c.4320G>A (p.Leu1440=)987LRBALikely benign-1RCV001422707; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151769989151769989CT151769989-
NM_001364905.1(LRBA):c.4305A>C (p.Ser1435=)987LRBALikely benign-1RCV001417672; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770004151770004TG151770004-
NM_001364905.1(LRBA):c.4295A>C (p.Lys1432Thr)987LRBAUncertain significancers1750225948RCV001226369; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770014151770014TG4:g.151770014T>G-
NM_001364905.1(LRBA):c.4263T>G (p.Ser1421Arg)987LRBAUncertain significancers779941155RCV000814096; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770046151770046AC4:g.151770046A>C-
NM_001364905.1(LRBA):c.4261A>G (p.Ser1421Gly)987LRBAPathogenic-1RCV001533553; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770048151770048TC151770048-
NM_001364905.1(LRBA):c.4251T>C (p.Leu1417=)987LRBALikely benign-1RCV001499430; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770058151770058AG151770058-
NM_001364905.1(LRBA):c.4240G>T (p.Val1414Leu)987LRBAUncertain significancers1750233907RCV001247935; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770069151770069CA4:g.151770069C>A-
NM_001364905.1(LRBA):c.4239del (p.Val1414fs)987LRBALikely pathogenic-1RCV001594439; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770070151770070CAC151770069-
NM_001364905.1(LRBA):c.4231A>T (p.Ile1411Phe)987LRBAUncertain significancers953278509RCV001205725; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770078151770078TA4:g.151770078T>A-
NM_001364905.1(LRBA):c.4223A>G (p.Gln1408Arg)987LRBAUncertain significancers1345556680RCV001235033; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770086151770086TC4:g.151770086T>C-
NM_001364905.1(LRBA):c.4200A>G (p.Ile1400Met)987LRBAUncertain significancers1560909790RCV000707601; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770109151770109TC4:g.151770109T>C-
NM_001364905.1(LRBA):c.4186C>G (p.Gln1396Glu)987LRBAUncertain significancers760112656RCV001210942; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770123151770123GC4:g.151770123G>C-
NM_001364905.1(LRBA):c.4183A>C (p.Thr1395Pro)987LRBAUncertain significance-1RCV001368097; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770126151770126TG151770126-
NM_001364905.1(LRBA):c.4179A>G (p.Glu1393=)987LRBALikely benign-1RCV001433035; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770130151770130TC151770130-
NM_001364905.1(LRBA):c.4171A>T (p.Asn1391Tyr)987LRBAUncertain significancers199910629RCV001232441; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770138151770138TA4:g.151770138T>A-
NM_001364905.1(LRBA):c.4164A>T (p.Glu1388Asp)987LRBAUncertain significancers1750244826RCV001316882; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770145151770145TA151770145-
NM_001364905.1(LRBA):c.4162G>A (p.Glu1388Lys)987LRBAUncertain significancers1750245138RCV001246792; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770147151770147CT4:g.151770147C>T-
NM_001364905.1(LRBA):c.4158+17T>C987LRBALikely benign-1RCV001449225; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770557151770557AG151770557-
NM_001364905.1(LRBA):c.4155T>A (p.Ala1385=)987LRBALikely benign-1RCV001436932; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770577151770577AT151770577-
NM_001364905.1(LRBA):c.4155T>C (p.Ala1385=)987LRBALikely benign-1RCV001463361; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770577151770577AG151770577-
NM_001364905.1(LRBA):c.4134G>A (p.Leu1378=)987LRBALikely benignrs943154636RCV000944909|RCV001432398; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770598151770598CT4:g.151770598C>T-
NM_001364905.1(LRBA):c.4118G>C (p.Gly1373Ala)987LRBAUncertain significancers772340784RCV001322828; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770614151770614CG151770614-
NM_001364905.1(LRBA):c.4111G>A (p.Ala1371Thr)987LRBAUncertain significance-1RCV001420609; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770621151770621CT151770621-
NM_001364905.1(LRBA):c.4100A>G (p.Asn1367Ser)987LRBALikely benignrs138220755RCV000918994; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770632151770632TC4:g.151770632T>C-
NM_001364905.1(LRBA):c.4090G>A (p.Val1364Met)987LRBAUncertain significancers1466167283RCV000798581; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770642151770642CT4:g.151770642C>T-
NM_001364905.1(LRBA):c.4062A>G (p.Val1354=)987LRBALikely benign-1RCV001474749; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770670151770670TC151770670-
NM_001364905.1(LRBA):c.4059T>G (p.Phe1353Leu)987LRBAUncertain significancers767220226RCV001240032; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770673151770673AC4:g.151770673A>C-
NM_001364905.1(LRBA):c.4005-10C>G987LRBALikely benign-1RCV001424583; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151770737151770737GC151770737-
NM_001364905.1(LRBA):c.4004+6T>A987LRBAUncertain significancers1750513846RCV001319653; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151771870151771870AT151771870-
NM_001364905.1(LRBA):c.4002A>G (p.Arg1334=)987LRBALikely benign-1RCV001426086; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151771878151771878TC151771878-
NM_001364905.1(LRBA):c.3995T>C (p.Met1332Thr)987LRBAUncertain significancers570345199RCV000535351; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151771885151771885AG4:g.151771885A>GClinGen:CA3102936
NM_001364905.1(LRBA):c.3970T>C (p.Phe1324Leu)987LRBAUncertain significancers1469170429RCV001046837; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151771910151771910AG4:g.151771910A>G-
NM_001364905.1(LRBA):c.3950G>A (p.Arg1317His)987LRBAUncertain significancers1047132889RCV000695422; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151771930151771930CT4:g.151771930C>T-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.3948A>G (p.Gln1316=)987LRBABenign/Likely benignrs35154927RCV000625063|RCV001310498; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151771932151771932TC4:g.151771932T>CClinGen:CA3102944
NM_001364905.1(LRBA):c.3942G>A (p.Met1314Ile)987LRBAUncertain significancers761765555RCV001034847; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151771938151771938CT4:g.151771938C>T-
NM_001364905.1(LRBA):c.3914G>A (p.Arg1305His)987LRBAUncertain significancers144754728RCV000756314|RCV000800976; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151771966151771966CT4:g.151771966C>T-
NM_001364905.1(LRBA):c.3914G>C (p.Arg1305Pro)987LRBAUncertain significancers144754728RCV000768011; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151771966151771966CG4:g.151771966C>G-
NM_001364905.1(LRBA):c.3909G>A (p.Val1303=)987LRBALikely benign-1RCV001430651; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151771971151771971CT151771971-
NM_001364905.1(LRBA):c.3905C>T (p.Thr1302Ile)987LRBAUncertain significancers756627280RCV000650415; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151771975151771975GA4:g.151771975G>AClinGen:CA3102956
NM_001364905.1(LRBA):c.3895T>C (p.Ser1299Pro)987LRBAUncertain significancers1553981489RCV000560346; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151771985151771985AG4:g.151771985A>GClinGen:CA358455688
NM_001364905.1(LRBA):c.3874G>A (p.Val1292Ile)987LRBABenignrs34678304RCV000550073; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151772006151772006CT4:g.151772006C>TClinGen:CA3102962
NM_001364905.1(LRBA):c.3859A>G (p.Ile1287Val)987LRBABenign/Likely benignrs118037378RCV000442014|RCV000944775; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151772021151772021TC4:g.151772021T>CClinGen:CA3102964CN169374 not specified;
NM_001364905.1(LRBA):c.3858A>G (p.Gly1286=)987LRBALikely benign-1RCV001410677; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151772022151772022TC151772022-
NM_001364905.1(LRBA):c.3830C>G (p.Ser1277Ter)987LRBAPathogenic-1RCV001385766; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151772050151772050GC151772050-
NM_001364905.1(LRBA):c.3829T>C (p.Ser1277Pro)987LRBAUncertain significancers765914410RCV001303958; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151772051151772051AG151772051-
NM_001364905.1(LRBA):c.3826-5A>G987LRBABenign/Likely benignrs114629781RCV000507641|RCV000948685; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151772059151772059TC4:g.151772059T>CClinGen:CA3102969
NM_001364905.1(LRBA):c.3826-13A>G987LRBAUncertain significancers1750538092RCV001332811; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151772067151772067TC151772067-
NM_001364905.1(LRBA):c.3825+15T>G987LRBABenign/Likely benignrs74366731RCV000514395|RCV001518819; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773022151773022AC4:g.151773022A>CClinGen:CA3102983CN517202 not provided;
NM_001364905.1(LRBA):c.3825+9A>G987LRBALikely benign-1RCV001432310; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773028151773028TC151773028-
NM_001364905.1(LRBA):c.3818T>G (p.Val1273Gly)987LRBAUncertain significancers368449672RCV001227537; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773044151773044AC4:g.151773044A>C-
NM_001364905.1(LRBA):c.3811C>T (p.Arg1271Ter)987LRBAPathogenicrs1560914625RCV000696141; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773051151773051GA4:g.151773051G>A-
NM_001364905.1(LRBA):c.3805C>G (p.Pro1269Ala)987LRBAConflicting interpretations of pathogenicityrs555169864RCV001306299; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773057151773057GC151773057-
NM_001364905.1(LRBA):c.3789C>T (p.Asn1263=)987LRBAConflicting interpretations of pathogenicityrs150689413RCV000592751|RCV001441908; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773073151773073GA4:g.151773073G>AClinGen:CA3102990CN169374 not specified;
NM_001364905.1(LRBA):c.3789C>A (p.Asn1263Lys)987LRBAUncertain significancers150689413RCV001344747; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773073151773073GT151773073-
NM_001364905.1(LRBA):c.3782G>C (p.Ser1261Thr)987LRBAUncertain significancers767343869RCV001297176; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773080151773080CG151773080-
NM_001364905.1(LRBA):c.3751A>G (p.Thr1251Ala)987LRBAUncertain significancers143973442RCV000756313|RCV000800125; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773111151773111TC4:g.151773111T>C-
NM_001364905.1(LRBA):c.3748G>C (p.Ala1250Pro)987LRBAUncertain significancers146423687RCV000689598; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773114151773114CG4:g.151773114C>G-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.3748G>T (p.Ala1250Ser)987LRBAUncertain significancers146423687RCV001238626; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773114151773114CA4:g.151773114C>A-
NM_001364905.1(LRBA):c.3743A>G (p.Asn1248Ser)987LRBAUncertain significancers140860135RCV000650401; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773119151773119TC4:g.151773119T>CClinGen:CA3103000C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.3726G>A (p.Ala1242=)987LRBALikely benignrs747256928RCV000907223; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773136151773136CT4:g.151773136C>T-
NM_001364905.1(LRBA):c.3721A>T (p.Ile1241Phe)987LRBAUncertain significancers149689496RCV000685924; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773141151773141TA4:g.151773141T>A-
NM_001364905.1(LRBA):c.3710C>T (p.Ser1237Phe)987LRBAUncertain significancers1750672537RCV001209589; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773152151773152GA4:g.151773152G>A-
NM_001364905.1(LRBA):c.3705T>G (p.Ala1235=)987LRBALikely benign-1RCV001436983; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773157151773157AC151773157-
NM_001364905.1(LRBA):c.3691A>G (p.Ser1231Gly)987LRBAUncertain significancers749012995RCV000705707; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773171151773171TC4:g.151773171T>C-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.3689G>A (p.Gly1230Asp)987LRBABenignrs34708681RCV000535176; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773173151773173CT4:g.151773173C>TClinGen:CA3103006
NM_001364905.1(LRBA):c.3684T>C (p.Cys1228=)987LRBABenignrs201219993RCV000885309; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773178151773178AG4:g.151773178A>G-
NM_001364905.1(LRBA):c.3679G>A (p.Asp1227Asn)987LRBAUncertain significancers771712478RCV001238720; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773183151773183CT4:g.151773183C>T-
NM_001364905.1(LRBA):c.3642A>G (p.Lys1214=)987LRBALikely benign-1RCV001499757; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773220151773220TC151773220-
NM_001364905.1(LRBA):c.3630G>A (p.Glu1210=)987LRBALikely benignrs1578997340RCV000932031|RCV001497196; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773232151773232CT4:g.151773232C>T-
NM_001364905.1(LRBA):c.3600T>C (p.Ala1200=)987LRBALikely benign-1RCV001442140; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773262151773262AG151773262-
NM_001364905.1(LRBA):c.3568A>G (p.Met1190Val)987LRBABenignrs138173151RCV000357187|RCV000556718; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773294151773294TC4:g.151773294T>CClinGen:CA3103023C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.3531T>C (p.Ser1177=)987LRBALikely benign-1RCV001500324; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773331151773331AG151773331-
NM_001364905.1(LRBA):c.3521C>G (p.Ser1174Cys)987LRBAUncertain significancers1578997714RCV000803778; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773341151773341GC4:g.151773341G>C-
NM_001364905.1(LRBA):c.3502G>C (p.Asp1168His)987LRBAUncertain significancers192884543RCV001058015; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773360151773360CG4:g.151773360C>G-
NM_001364905.1(LRBA):c.3501T>G (p.Thr1167=)987LRBALikely benign-1RCV001393779; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773361151773361AC151773361-
NM_001364905.1(LRBA):c.3499A>G (p.Thr1167Ala)987LRBAUncertain significancers146297781RCV000202792|RCV000814079; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773363151773363TC4:g.151773363T>CClinGen:CA248986
NM_001364905.1(LRBA):c.3497A>G (p.Gln1166Arg)987LRBAUncertain significance-1RCV001370160; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773365151773365TC151773365-
NM_001364905.1(LRBA):c.3495G>A (p.Lys1165=)987LRBALikely benignrs767837267RCV000982848|RCV001452567; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773367151773367CT4:g.151773367C>T-
NM_001364905.1(LRBA):c.3487_3488del (p.Val1162_Thr1163insTer)987LRBAPathogenicrs1750701604RCV001207875; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773374151773375AGTA4:g.151773374_151773375del-
NM_001364905.1(LRBA):c.3463A>G (p.Ile1155Val)987LRBAUncertain significancers1578998000RCV000798768; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773399151773399TC4:g.151773399T>C-
NM_001364905.1(LRBA):c.3437A>T (p.Asp1146Val)987LRBAUncertain significancers1578998055RCV000791979; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773425151773425TA4:g.151773425T>A-
NM_001364905.1(LRBA):c.3424G>T (p.Gly1142Cys)987LRBAUncertain significancers1377382315RCV001343548; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773438151773438CA151773438-
NM_001364905.1(LRBA):c.3423C>T (p.Ala1141=)987LRBABenignrs141442145RCV000884292; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773439151773439GA4:g.151773439G>A-
NM_001364905.1(LRBA):c.3414A>G (p.Ala1138=)987LRBALikely benign-1RCV001425616; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773448151773448TC151773448-
NM_001364905.1(LRBA):c.3413C>T (p.Ala1138Val)987LRBAUncertain significancers1004655907RCV000650403; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773449151773449GA4:g.151773449G>AClinGen:CA107814179
NM_001364905.1(LRBA):c.3407C>T (p.Pro1136Leu)987LRBAUncertain significancers113022115RCV000340892|RCV000794544; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773455151773455GA4:g.151773455G>AClinGen:CA3103049
NM_001364905.1(LRBA):c.3394A>T (p.Asn1132Tyr)987LRBAUncertain significancers769386027RCV001046437|RCV001508514; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151773468151773468TA4:g.151773468T>A-
NM_001364905.1(LRBA):c.3392A>G (p.Asp1131Gly)987LRBALikely benign-1RCV001406899; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773470151773470TC151773470-
NM_001364905.1(LRBA):c.3376C>T (p.Pro1126Ser)987LRBAUncertain significancers1750712579RCV001065780; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773486151773486GA4:g.151773486G>A-
NM_001364905.1(LRBA):c.3373C>T (p.Leu1125=)987LRBALikely benignrs138238756RCV000546434; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773489151773489GA4:g.151773489G>AClinGen:CA3103053
NM_001364905.1(LRBA):c.3373C>G (p.Leu1125Val)987LRBAUncertain significancers138238756RCV000788448|RCV001046495; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773489151773489GC4:g.151773489G>C-
NM_001364905.1(LRBA):c.3370A>G (p.Asn1124Asp)987LRBAUncertain significancers149606117RCV000698632; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773492151773492TC4:g.151773492T>C-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.3350G>T (p.Gly1117Val)987LRBAConflicting interpretations of pathogenicityrs35977354RCV000508237|RCV000948686; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773512151773512CA4:g.151773512C>AClinGen:CA3103062
NM_001364905.1(LRBA):c.3331G>T (p.Val1111Leu)987LRBABenignrs35250375RCV000650452; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773531151773531CA4:g.151773531C>AClinGen:CA3103063C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.3324T>C (p.Asp1108=)987LRBALikely benign-1RCV001473278; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773538151773538AG151773538-
NM_001364905.1(LRBA):c.3302T>C (p.Ile1101Thr)987LRBAUncertain significancers879340662RCV001346829; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773560151773560AG151773560-
NM_001364905.1(LRBA):c.3286_3287del (p.Phe1096fs)987LRBAPathogenicrs1750723817RCV001203869; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773575151773576GAAG4:g.151773575_151773576del-
NM_001364905.1(LRBA):c.3280C>T (p.Pro1094Ser)987LRBAUncertain significancers1553982186RCV000650423; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773582151773582GA4:g.151773582G>AClinGen:CA358459044
NM_001364905.1(LRBA):c.3273A>G (p.Ser1091=)987LRBABenign-1RCV001520933; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773589151773589TC151773589-
NM_001364905.1(LRBA):c.3269C>G (p.Ala1090Gly)987LRBABenignrs1782360RCV000269824|RCV001515471|RCV001683154; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151773593151773593GC4:g.151773593G>CClinGen:CA3103073,UniProtKB:P50851#VAR_057605CN169374 not specified;
NM_001364905.1(LRBA):c.3266A>T (p.Asp1089Val)987LRBAUncertain significancers879878436RCV000804956; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773596151773596TA4:g.151773596T>A-
NM_001364905.1(LRBA):c.3265G>C (p.Asp1089His)987LRBAUncertain significancers1750727722RCV001221006; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773597151773597CG4:g.151773597C>G-
NM_001364905.1(LRBA):c.3263A>G (p.Glu1088Gly)987LRBAUncertain significancers1387505849RCV000815575; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773599151773599TC4:g.151773599T>C-
NM_001364905.1(LRBA):c.3262G>C (p.Glu1088Gln)987LRBAUncertain significancers142075710RCV000686265|RCV000756317; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151773600151773600CG4:g.151773600C>G-
NM_001364905.1(LRBA):c.3244A>G (p.Ile1082Val)987LRBAUncertain significancers553088346RCV001218697; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773618151773618TC4:g.151773618T>C-
NM_001364905.1(LRBA):c.3220A>G (p.Thr1074Ala)987LRBAUncertain significancers754130305RCV001322564; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773642151773642TC151773642-
NM_001364905.1(LRBA):c.3207C>A (p.Gly1069=)987LRBAConflicting interpretations of pathogenicityrs762031957RCV000598284|RCV001078620; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773655151773655GT4:g.151773655G>TClinGen:CA3103080CN169374 not specified;
NM_001364905.1(LRBA):c.3185C>T (p.Ser1062Phe)987LRBAUncertain significancers201272489RCV001043533; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773677151773677GA4:g.151773677G>A-
NM_001364905.1(LRBA):c.3178A>G (p.Ile1060Val)987LRBAUncertain significancers151165043RCV001067917; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773684151773684TC4:g.151773684T>C-
NM_001364905.1(LRBA):c.3128G>T (p.Arg1043Met)987LRBAUncertain significancers1750741299RCV001219119; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773734151773734CA4:g.151773734C>A-
NM_001364905.1(LRBA):c.3119A>G (p.Asn1040Ser)987LRBAUncertain significancers139100556RCV001206343; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773743151773743TC4:g.151773743T>C-
NM_001364905.1(LRBA):c.3112C>G (p.Leu1038Val)987LRBAUncertain significancers1750742855RCV001051808; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773750151773750GC4:g.151773750G>C-
NM_001364905.1(LRBA):c.3076C>T (p.Gln1026Ter)987LRBALikely pathogenicrs1578999313RCV001027974; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773786151773786GA4:g.151773786G>A-
NM_001364905.1(LRBA):c.3064G>A (p.Glu1022Lys)987LRBAUncertain significancers180892740RCV000822005; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773798151773798CT4:g.151773798C>T-
NM_001364905.1(LRBA):c.3032CTA[1] (p.Thr1012del)987LRBAUncertain significancers1750753342RCV001320617; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773825151773827TTAGT151773824-
NM_001364905.1(LRBA):c.3012A>G (p.Ala1004=)987LRBALikely benignrs371296941RCV000898810; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773850151773850TC4:g.151773850T>C-
NM_001364905.1(LRBA):c.3009T>A (p.Ser1003=)987LRBALikely benignrs149919062RCV000973775|RCV001702576; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151773853151773853AT4:g.151773853A>T-
NM_001364905.1(LRBA):c.2981G>C (p.Ser994Thr)987LRBAUncertain significance-1RCV001373299; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773881151773881CG151773881-
NM_001364905.1(LRBA):c.2980A>G (p.Ser994Gly)987LRBAUncertain significancers773468487RCV001056818; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773882151773882TC4:g.151773882T>C-
NM_001364905.1(LRBA):c.2963del (p.Asn988fs)987LRBAPathogenicrs1750760771RCV001071942; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773899151773899ATA4:g.151773899_151773899del-
NM_001364905.1(LRBA):c.2938C>A (p.Pro980Thr)987LRBAUncertain significancers1750764106RCV001070973; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773924151773924GT4:g.151773924G>T-
NM_001364905.1(LRBA):c.2932G>A (p.Asp978Asn)987LRBAUncertain significancers1750764386RCV001045364; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773930151773930CT4:g.151773930C>T-
NM_001364905.1(LRBA):c.2927C>T (p.Thr976Met)987LRBAUncertain significancers142209951RCV000815566; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773935151773935GA4:g.151773935G>A-
NM_001364905.1(LRBA):c.2917C>A (p.Gln973Lys)987LRBAUncertain significancers753358028RCV001203217; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773945151773945GT4:g.151773945G>T-
NM_001364905.1(LRBA):c.2913C>T (p.Ser971=)987LRBALikely benign-1RCV001429011; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773949151773949GA151773949-
NM_001364905.1(LRBA):c.2905G>T (p.Val969Leu)987LRBAUncertain significancers1054240846RCV000822454; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773957151773957CA4:g.151773957C>A-
NM_001364905.1(LRBA):c.2889G>A (p.Arg963=)987LRBALikely benign-1RCV001440257; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151773973151773973CT151773973-
NM_001364905.1(LRBA):c.2849G>T (p.Cys950Phe)987LRBAUncertain significancers751947187RCV001027829; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151774013151774013CA4:g.151774013C>A-
NM_001364905.1(LRBA):c.2844G>C (p.Gly948=)987LRBALikely benignrs147858409RCV000919681|RCV001501392; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151774018151774018CG4:g.151774018C>G-
NM_001364905.1(LRBA):c.2814A>G (p.Glu938=)987LRBALikely benignrs1288809857RCV000975312|RCV001468510; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151774048151774048TC4:g.151774048T>C-
NM_001364905.1(LRBA):c.2811G>A (p.Arg937=)987LRBALikely benignrs367738505RCV000502924|RCV000941041; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151774051151774051CT4:g.151774051C>TClinGen:CA3103133
NM_001364905.1(LRBA):c.2803A>G (p.Ile935Val)987LRBAUncertain significancers375585628RCV001306053; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151774059151774059TC151774059-
NM_001364905.1(LRBA):c.2758C>A (p.His920Asn)987LRBAUncertain significancers1752898645RCV001298893; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151788831151788831GT151788831-
NM_001364905.1(LRBA):c.2734T>C (p.Trp912Arg)987LRBAUncertain significancers1752902695RCV001298913; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151788855151788855AG151788855-
NM_001364905.1(LRBA):c.2712T>C (p.Tyr904=)987LRBALikely benign-1RCV001409308; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151788877151788877AG151788877-
NM_001364905.1(LRBA):c.2711A>G (p.Tyr904Cys)987LRBAUncertain significancers767955681RCV000813723; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151788878151788878TC4:g.151788878T>C-
NM_001364905.1(LRBA):c.2678T>G (p.Ile893Arg)987LRBAUncertain significancers376733273RCV001297022; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151788911151788911AC151788911-
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr)987LRBABenignrs151098394RCV000531545; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151788915151788915CT4:g.151788915C>TClinGen:CA3103170
NM_001364905.1(LRBA):c.2673C>T (p.Tyr891=)987LRBALikely benign-1RCV001413976; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151788916151788916GA151788916-
NM_001364905.1(LRBA):c.2672A>G (p.Tyr891Cys)987LRBAUncertain significancers368889016RCV001325998; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151788917151788917TC151788917-
NM_001364905.1(LRBA):c.2671T>C (p.Tyr891His)987LRBAUncertain significancers757344529RCV001332810; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151788918151788918AG151788918-
NM_001364905.1(LRBA):c.2662G>A (p.Glu888Lys)987LRBAUncertain significancers200640538RCV001241350; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151788927151788927CT4:g.151788927C>T-
NM_001364905.1(LRBA):c.2656A>G (p.Ile886Val)987LRBAUncertain significancers1040930207RCV001223523; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151788933151788933TC4:g.151788933T>C-
NM_001364905.1(LRBA):c.2637G>A (p.Lys879=)987LRBAConflicting interpretations of pathogenicityrs138956153RCV000729902|RCV001086646; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151788952151788952CT4:g.151788952C>T-
NM_001364905.1(LRBA):c.2634T>G (p.Pro878=)987LRBABenignrs17027154RCV001082936; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151788955151788955AC4:g.151788955A>CClinGen:CA3103181
NM_001364905.1(LRBA):c.2625T>C (p.Tyr875=)987LRBALikely benignrs1579044835RCV000945285|RCV001397606; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151788964151788964AG4:g.151788964A>G-
NM_001364905.1(LRBA):c.2619C>G (p.Leu873=)987LRBALikely benignrs185800710RCV000963838; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151788970151788970GC4:g.151788970G>C-
NM_001364905.1(LRBA):c.2588G>A (p.Cys863Tyr)987LRBAUncertain significancers1752922240RCV001210424; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789001151789001CT4:g.151789001C>T-
NM_001364905.1(LRBA):c.2573+7T>G987LRBALikely benign-1RCV001452566; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789327151789327AC151789327-
NM_001364905.1(LRBA):c.2570G>A (p.Arg857Lys)987LRBAUncertain significancers1752972838RCV001070446; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789337151789337CT4:g.151789337C>T-
NM_001364905.1(LRBA):c.2564A>G (p.Glu855Gly)987LRBAUncertain significancers1218661905RCV000692079; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789343151789343TC4:g.151789343T>C-
NM_001364905.1(LRBA):c.2563_2564delinsTG (p.Glu855Ter)987LRBAPathogenicrs1560938296RCV000692077; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789343151789344TCCANC_000004.11:g.151789343_151789344delinsCA-
NM_001364905.1(LRBA):c.2556C>T (p.Asn852=)987LRBALikely benign-1RCV001436839; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789351151789351GA151789351-
NM_001364905.1(LRBA):c.2550T>C (p.Phe850=)987LRBALikely benign-1RCV001399449; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789357151789357AG151789357-
NM_001364905.1(LRBA):c.2535C>G (p.Asp845Glu)987LRBAUncertain significancers1327756766RCV001036022; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789372151789372GC4:g.151789372G>C-
NM_001364905.1(LRBA):c.2529T>C (p.Leu843=)987LRBALikely benign-1RCV001482648; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789378151789378AG151789378-
NM_001364905.1(LRBA):c.2527C>T (p.Leu843Phe)987LRBAUncertain significancers1752978320RCV001205331; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789380151789380GA4:g.151789380G>A-
NM_001364905.1(LRBA):c.2526T>C (p.Phe842=)987LRBABenign/Likely benignrs139428189RCV000403991|RCV000557632|RCV001171743; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151789381151789381AG4:g.151789381A>GClinGen:CA3103217C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.2521G>A (p.Ala841Thr)987LRBALikely benignrs755188769RCV001267769; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789386151789386CT4:g.151789386C>T-
NM_001364905.1(LRBA):c.2508G>A (p.Met836Ile)987LRBAUncertain significancers966276627RCV001211668; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789399151789399CT4:g.151789399C>T-
NM_001364905.1(LRBA):c.2504G>A (p.Ser835Asn)987LRBAUncertain significancers866363880RCV001037463; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789403151789403CT4:g.151789403C>T-
NM_001364905.1(LRBA):c.2495G>T (p.Cys832Phe)987LRBAUncertain significancers370492712RCV001235439; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789412151789412CA4:g.151789412C>A-
NM_001364905.1(LRBA):c.2492A>G (p.Gln831Arg)987LRBAUncertain significancers745759999RCV001300770; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789415151789415TC151789415-
NM_001364905.1(LRBA):c.2480G>A (p.Arg827Gln)987LRBAUncertain significancers201878879RCV000821692; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789427151789427CT4:g.151789427C>T-
NM_001364905.1(LRBA):c.2476C>A (p.Leu826Ile)987LRBAUncertain significancers183837092RCV001347249; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789431151789431GT151789431-
NM_001364905.1(LRBA):c.2475A>C (p.Leu825=)987LRBALikely benign-1RCV001464078; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789432151789432TG151789432-
NM_001364905.1(LRBA):c.2472C>T (p.Thr824=)987LRBABenignrs149235577RCV000909019; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789435151789435GA4:g.151789435G>A-
NM_001364905.1(LRBA):c.2469G>A (p.Ala823=)987LRBABenignrs144453185RCV000650445; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789438151789438CT4:g.151789438C>TClinGen:CA3103228C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.2466T>G (p.Ile822Met)987LRBALikely benignrs530949155RCV000899420; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151789441151789441AC4:g.151789441A>C-
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)987LRBAConflicting interpretations of pathogenicityrs140666848RCV000202672|RCV000508598|RCV000659004|RCV001080665; NMedGen:CN169374|MONDO:MONDO:0007723,MedGen:C3888239,OMIM:142623, Orphanet:388|MedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151791682151791682TC4:g.151791682T>CClinGen:CA248871C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.2442A>G (p.Gln814=)987LRBALikely benign-1RCV001430138; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151791684151791684TC151791684-
NM_001364905.1(LRBA):c.2406A>G (p.Lys802=)987LRBALikely benignrs201780876RCV000963142; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151791720151791720TC4:g.151791720T>C-
NM_001364905.1(LRBA):c.2402A>G (p.His801Arg)987LRBAUncertain significance-1RCV001369463; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151791724151791724TC151791724-
NM_001364905.1(LRBA):c.2368-6C>A987LRBAUncertain significancers368300695RCV001202243; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151791764151791764GT4:g.151791764G>T-
NM_001364905.1(LRBA):c.2361G>C (p.Leu787=)987LRBALikely benign-1RCV001466396; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151792503151792503CG151792503-
NM_001364905.1(LRBA):c.2347A>T (p.Thr783Ser)987LRBAUncertain significancers371913685RCV001227549; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151792517151792517TA4:g.151792517T>A-
NM_001364905.1(LRBA):c.2345C>T (p.Thr782Ile)987LRBAUncertain significancers776922216RCV000650404; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151792519151792519GA4:g.151792519G>AClinGen:CA3103295
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=)987LRBAConflicting interpretations of pathogenicityrs79392371RCV000727201|RCV001086892; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151792524151792524TC4:g.151792524T>CClinGen:CA3103297C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.2319G>A (p.Met773Ile)987LRBAUncertain significancers143024610RCV001070159; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151792545151792545CT4:g.151792545C>T-
NM_001364905.1(LRBA):c.2316C>T (p.Leu772=)987LRBALikely benign-1RCV001394588; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151792548151792548GA151792548-
NM_001364905.1(LRBA):c.2313G>C (p.Arg771Ser)987LRBAUncertain significancers1753425532RCV001217028; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151792551151792551CG4:g.151792551C>G-
NM_001364905.1(LRBA):c.2279T>C (p.Leu760Pro)987LRBAUncertain significancers1579056570RCV000800463; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151792585151792585AG4:g.151792585A>G-
NM_001364905.1(LRBA):c.2275A>C (p.Met759Leu)987LRBABenignrs191118242RCV000920097; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151792589151792589TG4:g.151792589T>G-
NM_001364905.1(LRBA):c.2262G>A (p.Arg754=)987LRBALikely benign-1RCV001441703; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151792602151792602CT151792602-
NM_001364905.1(LRBA):c.2259-3C>T987LRBAUncertain significancers748427487RCV000802328; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151792608151792608GA4:g.151792608G>A-
NM_001364905.1(LRBA):c.2259-7A>G987LRBAUncertain significancers1753433346RCV001035485; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151792612151792612TC4:g.151792612T>C-
NM_001364905.1(LRBA):c.2227A>G (p.Met743Val)987LRBAUncertain significancers369606805RCV001318885; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151793846151793846TC151793846-
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile)987LRBAConflicting interpretations of pathogenicityrs151213445RCV000373985|RCV000765754; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151793864151793864CT4:g.151793864C>TClinGen:CA3103329CN169374 not specified;
NM_001364905.1(LRBA):c.2195G>A (p.Ser732Asn)987LRBAUncertain significancers866092082RCV000809742; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151793878151793878CT4:g.151793878C>T-
NM_001364905.1(LRBA):c.2190G>A (p.Ser730=)987LRBALikely benign-1RCV001417304; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151793883151793883CT151793883-
NM_001364905.1(LRBA):c.2181T>C (p.Leu727=)987LRBALikely benign-1RCV001394751; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151793892151793892AG151793892-
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val)987LRBABenignrs72719663RCV000540308|RCV001700218|RCV001724057; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN517202|MedGen:CN1693744151793903151793903TC4:g.151793903T>CClinGen:CA3103335C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.2166-1G>C987LRBALikely pathogenic-1RCV001377647; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151793908151793908CG151793908-
NC_000004.12:g.(?_150893032)_(150897838_?)del987LRBAPathogenic-1RCV001032811; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151814184151818990nana-1-
NC_000004.11:g.(?_151814184)_(151935814_?)dup987LRBAUncertain significance-1RCV001300697; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151814184151935814nana-1-
NM_001364905.1(LRBA):c.2165G>A (p.Arg722His)987LRBAUncertain significance-1RCV001371258; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151814204151814204CT151814204-
NM_001364905.1(LRBA):c.2164C>T (p.Arg722Cys)987LRBAUncertain significancers529536481RCV001044469; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151814205151814205GA4:g.151814205G>A-
NM_001364905.1(LRBA):c.2161T>C (p.Leu721=)987LRBALikely benign-1RCV001446268; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151814208151814208AG151814208-
NM_001364905.1(LRBA):c.2131A>G (p.Met711Val)987LRBAUncertain significancers530157333RCV001309260; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151814238151814238TC151814238-
NM_001364905.1(LRBA):c.2126A>G (p.Asn709Ser)987LRBAUncertain significancers1011931648RCV000700701; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151814243151814243TC4:g.151814243T>C-
NM_001364905.1(LRBA):c.2112G>A (p.Met704Ile)987LRBAUncertain significancers114786941RCV001040187; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151814257151814257CT4:g.151814257C>T-
NM_001364905.1(LRBA):c.2068-18T>A987LRBALikely benign-1RCV001416715; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151814319151814319AT151814319-
NM_001364905.1(LRBA):c.2067+20T>G987LRBAUncertain significancers1284557147RCV001338514; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151817526151817526AC151817526-
NM_001364905.1(LRBA):c.2064T>C (p.His688=)987LRBALikely benignrs145198687RCV000650446; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151817549151817549AG4:g.151817549A>GClinGen:CA3103375
NM_001364905.1(LRBA):c.2050C>T (p.Leu684=)987LRBAConflicting interpretations of pathogenicityrs149148368RCV000728250|RCV001463074; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151817563151817563GA4:g.151817563G>A-
NM_001364905.1(LRBA):c.2036C>G (p.Ala679Gly)987LRBAUncertain significancers769836776RCV000804458; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151817577151817577GC4:g.151817577G>C-
NM_001364905.1(LRBA):c.2032C>T (p.Gln678Ter)987LRBAPathogenicrs727503780RCV000150104; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151817581151817581GA4:g.151817581G>AClinGen:CA175134,OMIM:606453.0006C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.2025T>C (p.Asp675=)987LRBALikely benignrs1579127982RCV000930374|RCV001494855; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151817588151817588AG4:g.151817588A>G-
NM_001364905.1(LRBA):c.2023G>A (p.Asp675Asn)987LRBAUncertain significance-1RCV001363504; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151817590151817590CT151817590-
NM_001364905.1(LRBA):c.2014G>A (p.Val672Ile)987LRBAUncertain significancers1730095086RCV001207146; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151817599151817599CT4:g.151817599C>T-
NM_001364905.1(LRBA):c.1984A>G (p.Ile662Val)987LRBAUncertain significancers1730257048RCV001060071; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151818911151818911TC4:g.151818911T>C-
NM_001364905.1(LRBA):c.1963C>T (p.Arg655Ter)987LRBAPathogenicrs199750191RCV001267768; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151818932151818932GA4:g.151818932G>A-
NM_001364905.1(LRBA):c.1937C>G (p.Pro646Arg)987LRBAUncertain significancers755987682RCV001335457; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151818958151818958GC151818958-
NM_001364905.1(LRBA):c.1931dup (p.Arg645fs)987LRBAPathogenicrs745453685RCV001070004; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151818963151818964CCG4:g.151818963_151818964insG-
NM_001364905.1(LRBA):c.1931C>T (p.Pro644Leu)987LRBAUncertain significancers371718439RCV001048841|RCV001200461; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151818964151818964GA4:g.151818964G>A-
NM_001364905.1(LRBA):c.1930C>T (p.Pro644Ser)987LRBAUncertain significancers1730263409RCV001267771; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151818965151818965GA4:g.151818965G>A-
NM_001364905.1(LRBA):c.1925-6T>C987LRBALikely benign-1RCV001506892; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151818976151818976AG151818976-
NM_001364905.1(LRBA):c.1925-15A>G987LRBALikely benign-1RCV001406445; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151818985151818985TC151818985-
NM_001364905.1(LRBA):c.1923_1924+11del987LRBALikely pathogenicrs755373718RCV001244180; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151821190151821202GAAATTATATACCTG4:g.151821190_151821202del-
NM_001364905.1(LRBA):c.1924+4_1924+7del987LRBAUncertain significancers1355259232RCV000687984|RCV001092650; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151821194151821197TTATAT4:g.151821194_151821197del-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.1924+2T>A987LRBALikely pathogenicrs1730552437RCV001035308; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151821199151821199AT4:g.151821199A>T-
NM_001364905.1(LRBA):c.1906A>G (p.Ile636Val)987LRBAUncertain significancers371719942RCV001207524; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151821219151821219TC4:g.151821219T>C-
NM_001364905.1(LRBA):c.1898G>A (p.Arg633Gln)987LRBAUncertain significancers892315382RCV001341730; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151821227151821227CT151821227-
NM_001364905.1(LRBA):c.1893G>A (p.Gln631=)987LRBALikely benign-1RCV001491665; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151821232151821232CT151821232-
NM_001364905.1(LRBA):c.1879G>A (p.Ala627Thr)987LRBAUncertain significancers550423754RCV001217425; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151821246151821246CT4:g.151821246C>T-
NM_001364905.1(LRBA):c.1871A>G (p.Tyr624Cys)987LRBAUncertain significancers1021695325RCV001294899; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151821254151821254TC151821254-
NM_001364905.1(LRBA):c.1859C>T (p.Thr620Met)987LRBAUncertain significancers1367929161RCV001057864; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151821266151821266GA4:g.151821266G>A-
NM_001364905.1(LRBA):c.1854G>A (p.Met618Ile)987LRBAUncertain significancers369788958RCV001052859; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151821271151821271CT4:g.151821271C>T-
NM_001364905.1(LRBA):c.1832T>A (p.Val611Asp)987LRBAUncertain significancers372038367RCV000802682; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151821293151821293AT4:g.151821293A>T-
NM_001364905.1(LRBA):c.1829_1831del (p.Arg610_Val611delinsIle)987LRBAUncertain significancers1730564285RCV001299545; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151821294151821296ACTCA151821293-
NM_001364905.1(LRBA):c.1823T>C (p.Ile608Thr)987LRBAUncertain significancers1579140481RCV000795147; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151821302151821302AG4:g.151821302A>G-
NM_001364905.1(LRBA):c.1787C>T (p.Thr596Met)987LRBAUncertain significancers779175495RCV001219104; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151821338151821338GA4:g.151821338G>A-
NM_001364905.1(LRBA):c.1772A>C (p.Tyr591Ser)987LRBAUncertain significancers1321650166RCV001340574; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151821353151821353TG151821353-
NM_001364905.1(LRBA):c.1771T>C (p.Tyr591His)987LRBAUncertain significancers138890467RCV000788175|RCV000808184; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151821354151821354AG4:g.151821354A>G-
NM_001364905.1(LRBA):c.1755+10A>G987LRBALikely benignrs200196406RCV000890404; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151826980151826980TC4:g.151826980T>C-
NM_001364905.1(LRBA):c.1732A>G (p.Ile578Val)987LRBAUncertain significancers140655974RCV000811209; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827013151827013TC4:g.151827013T>C-
NM_001364905.1(LRBA):c.1717C>A (p.Leu573Ile)987LRBAUncertain significancers1234177181RCV001316979; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827028151827028GT151827028-
NM_001364905.1(LRBA):c.1713C>T (p.His571=)987LRBAConflicting interpretations of pathogenicityrs145812385RCV000360665|RCV001084550; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827032151827032GA4:g.151827032G>AClinGen:CA3103501C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.1695C>T (p.Leu565=)987LRBALikely benignrs1579159105RCV000911863; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827050151827050GA4:g.151827050G>A-
NM_001364905.1(LRBA):c.1689C>A (p.Pro563=)987LRBABenignrs115894255RCV000650432; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827056151827056GT4:g.151827056G>TClinGen:CA3103504C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.1659A>G (p.Lys553=)987LRBAUncertain significancers747052936RCV000650419; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827086151827086TC4:g.151827086T>CClinGen:CA3103510
NM_001364905.1(LRBA):c.1610A>G (p.Lys537Arg)987LRBAUncertain significancers369645073RCV001237423; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827135151827135TC4:g.151827135T>C-
NM_001364905.1(LRBA):c.1604C>T (p.Ser535Phe)987LRBAUncertain significancers750781811RCV001345012; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827141151827141GA151827141-
NM_001364905.1(LRBA):c.1603-4G>T987LRBABenignrs143754610RCV000556090; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827146151827146CA4:g.151827146C>AClinGen:CA3103526C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.1602+20A>T987LRBALikely benign-1RCV001471309; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827429151827429TA151827429-
NM_001364905.1(LRBA):c.1565G>A (p.Cys522Tyr)987LRBAUncertain significance-1RCV001363403; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827486151827486CT151827486-
NM_001364905.1(LRBA):c.1551A>G (p.Glu517=)987LRBALikely benignrs752041704RCV000897825; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827500151827500TC4:g.151827500T>C-
NM_001364905.1(LRBA):c.1541C>T (p.Ala514Val)987LRBAUncertain significancers187493744RCV000541234; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827510151827510GA4:g.151827510G>AClinGen:CA3103546
NM_001364905.1(LRBA):c.1536A>G (p.Ser512=)987LRBALikely benign-1RCV001491603; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827515151827515TC151827515-
NM_001364905.1(LRBA):c.1532A>G (p.Asn511Ser)987LRBAUncertain significancers1731341051RCV001050951; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827519151827519TC4:g.151827519T>C-
NM_001364905.1(LRBA):c.1513A>G (p.Ile505Val)987LRBABenignrs35612775RCV000650428; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827538151827538TC4:g.151827538T>CClinGen:CA3103550
NM_001364905.1(LRBA):c.1509C>G (p.Ala503=)987LRBALikely benignrs535844333RCV000893223|RCV001399714; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151827542151827542GC4:g.151827542G>C-
NM_001364905.1(LRBA):c.1493+8C>T987LRBALikely benign-1RCV001415322; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829478151829478GA151829478-
NM_001364905.1(LRBA):c.1485G>C (p.Leu495Phe)987LRBAUncertain significancers781285430RCV000795339; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829494151829494CG4:g.151829494C>G-
NM_001364905.1(LRBA):c.1477A>G (p.Ile493Val)987LRBAUncertain significancers1731575422RCV001319924; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829502151829502TC151829502-
NM_001364905.1(LRBA):c.1461A>G (p.Gln487=)987LRBALikely benign-1RCV001501817; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829518151829518TC151829518-
NM_001364905.1(LRBA):c.1433C>T (p.Pro478Leu)987LRBAUncertain significancers896257229RCV000594396|RCV001044156; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829546151829546GA4:g.151829546G>AClinGen:CA107820441CN169374 not specified;
NM_001364905.1(LRBA):c.1408A>G (p.Ile470Val)987LRBAUncertain significancers562880170RCV001306253; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829571151829571TC151829571-
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)987LRBAConflicting interpretations of pathogenicityrs116355217RCV000275233|RCV000650433|RCV000755561; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151829580151829580TC4:g.151829580T>CClinGen:CA3103588C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.1395T>G (p.Ser465Arg)987LRBAUncertain significancers1731584014RCV001299408; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829584151829584AC151829584-
NM_001364905.1(LRBA):c.1372G>A (p.Val458Ile)987LRBAUncertain significancers765483951RCV000729903|RCV000798035; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829607151829607CT4:g.151829607C>T-
NM_001364905.1(LRBA):c.1359+10G>A987LRBALikely benign-1RCV001419579; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829802151829802CT151829802-
NM_001364905.1(LRBA):c.1347A>G (p.Ala449=)987LRBABenign-1RCV001515472|RCV001676004; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151829824151829824TC151829824-
NM_001364905.1(LRBA):c.1344T>G (p.His448Gln)987LRBAUncertain significancers1731613312RCV001056068; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829827151829827AC4:g.151829827A>C-
NM_001364905.1(LRBA):c.1316A>G (p.Asn439Ser)987LRBAUncertain significancers572309256RCV000508588|RCV000650425|RCV001569300; NMedGen:CN169374|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151829855151829855TC4:g.151829855T>CClinGen:CA3103621
NM_001364905.1(LRBA):c.1311G>C (p.Lys437Asn)987LRBAUncertain significancers1731616766RCV001326657; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829860151829860CG151829860-
NM_001364905.1(LRBA):c.1307C>T (p.Pro436Leu)987LRBAUncertain significancers1731617598RCV001035003; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829864151829864GA4:g.151829864G>A-
NM_001364905.1(LRBA):c.1296T>C (p.Leu432=)987LRBALikely benignrs111753976RCV000526369|RCV001413065; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829875151829875AG4:g.151829875A>GClinGen:CA107820673C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.1291T>C (p.Cys431Arg)987LRBAUncertain significancers778235929RCV000987479; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829880151829880AG4:g.151829880A>G-
NM_001364905.1(LRBA):c.1271G>A (p.Arg424Gln)987LRBAUncertain significancers758011413RCV001215595; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829900151829900CT4:g.151829900C>T-
NM_001364905.1(LRBA):c.1270C>T (p.Arg424Trp)987LRBAUncertain significancers945099173RCV000694052; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829901151829901GA4:g.151829901G>A-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.1260G>A (p.Thr420=)987LRBALikely benign-1RCV001396079; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829911151829911CT151829911-
NM_001364905.1(LRBA):c.1259C>T (p.Thr420Met)987LRBAUncertain significancers1042175189RCV000799854; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829912151829912GA4:g.151829912G>A-
NM_001364905.1(LRBA):c.1253C>T (p.Ala418Val)987LRBAUncertain significancers1731624368RCV001313964; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829918151829918GA151829918-
NM_001364905.1(LRBA):c.1239C>T (p.Leu413=)987LRBALikely benign-1RCV001456173; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829932151829932GA151829932-
NM_001364905.1(LRBA):c.1230T>C (p.Asp410=)987LRBALikely benign-1RCV001433363; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829941151829941AG151829941-
NM_001364905.1(LRBA):c.1222T>C (p.Leu408=)987LRBALikely benign-1RCV001434115; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829949151829949AG151829949-
NM_001364905.1(LRBA):c.1219T>C (p.Leu407=)987LRBALikely benignrs190586278RCV000933376; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829952151829952AG4:g.151829952A>G-
NM_001364905.1(LRBA):c.1216C>T (p.Leu406Phe)987LRBAUncertain significancers144550751RCV001043105; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829955151829955GA4:g.151829955G>A-
NM_001364905.1(LRBA):c.1189G>A (p.Asp397Asn)987LRBAUncertain significancers558200018RCV000817997; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151829982151829982CT4:g.151829982C>T-
NM_001364905.1(LRBA):c.1162-7T>C987LRBALikely benign-1RCV001479830; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151830016151830016AG151830016-
NM_001364905.1(LRBA):c.1161+4G>T987LRBAUncertain significancers374666604RCV000788860|RCV001298099; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151835343151835343CA4:g.151835343C>A-
NM_001364905.1(LRBA):c.1144T>C (p.Leu382=)987LRBABenignrs62344598RCV000547944|RCV001535088; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151835364151835364AG4:g.151835364A>GClinGen:CA3103665C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.1144T>A (p.Leu382Met)987LRBAUncertain significancers62344598RCV000697323; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151835364151835364AT4:g.151835364A>T-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.1135A>G (p.Ile379Val)987LRBAUncertain significancers753000515RCV001312455; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151835373151835373TC151835373-
NM_001364905.1(LRBA):c.1111C>T (p.Leu371=)987LRBALikely benignrs1318726073RCV000979932|RCV001428366; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151835397151835397GA4:g.151835397G>A-
NM_001364905.1(LRBA):c.1109C>G (p.Ala370Gly)987LRBAUncertain significancers1391144269RCV000650411; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151835399151835399GC4:g.151835399G>CClinGen:CA358435549
NM_001364905.1(LRBA):c.1083G>T (p.Met361Ile)987LRBAUncertain significancers1560998754RCV001306115; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151835425151835425CA151835425-
NM_001364905.1(LRBA):c.1071C>T (p.Phe357=)987LRBALikely benignrs749749471RCV000936060; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151835437151835437GA4:g.151835437G>A-
NM_001364905.1(LRBA):c.1062T>C (p.Asn354=)987LRBALikely benign-1RCV001406585; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151835446151835446AG151835446-
NM_001364905.1(LRBA):c.1025A>G (p.Lys342Arg)987LRBAUncertain significancers201545103RCV001295984; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151835483151835483TC151835483-
NM_001364905.1(LRBA):c.1015-8T>C987LRBALikely benignrs762827813RCV000650439|RCV001477733; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151835501151835501AG4:g.151835501A>GClinGen:CA3103682
NM_001364905.1(LRBA):c.1015-20dup987LRBABenignrs753223643RCV000540888|RCV001701045|RCV001727754; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN517202|MedGen:CN1693744151835502151835503GGA4:g.151835502_151835503insAClinGen:CA3103684C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.1015-9C>T987LRBABenignrs765923836RCV000949277; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151835502151835502GA4:g.151835502G>A-
NM_001364905.1(LRBA):c.1015-10del987LRBABenignrs753223643RCV000625064; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151835503151835503GAG4:g.151835503_151835503delClinGen:CA3103683C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.1014+7A>C987LRBALikely benignrs375965457RCV000650449; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151836753151836753TG4:g.151836753T>GClinGen:CA3103699
NM_001364905.1(LRBA):c.1014T>C (p.Asp338=)987LRBALikely benignrs758442634RCV000931153|RCV001500137; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151836760151836760AG4:g.151836760A>G-
NM_001364905.1(LRBA):c.972G>C (p.Leu324=)987LRBALikely benign-1RCV001443856; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151836802151836802CG151836802-
NM_001364905.1(LRBA):c.957T>C (p.Tyr319=)987LRBALikely benign-1RCV001411145; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151836817151836817AG151836817-
NM_001364905.1(LRBA):c.950G>A (p.Arg317Gln)987LRBALikely benignrs151021623RCV000650451; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151836824151836824CT4:g.151836824C>TClinGen:CA3103710
NM_001364905.1(LRBA):c.913G>A (p.Val305Ile)987LRBAUncertain significancers141193241RCV000702322; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151836861151836861CT4:g.151836861C>T-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.910A>G (p.Ile304Val)987LRBAUncertain significancers758438007RCV001062058; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151836864151836864TC4:g.151836864T>C-
NM_001364905.1(LRBA):c.908C>G (p.Thr303Ser)987LRBAUncertain significancers751825912RCV001347282; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151836866151836866GC151836866-
NM_001364905.1(LRBA):c.894+6T>C987LRBAUncertain significancers375883751RCV000822574; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151837547151837547AG4:g.151837547A>G-
NM_001364905.1(LRBA):c.865T>C (p.Cys289Arg)987LRBAUncertain significance-1RCV001361179; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151837582151837582AG151837582-
NM_001364905.1(LRBA):c.851A>G (p.Lys284Arg)987LRBAUncertain significancers372046063RCV001303306; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151837596151837596TC151837596-
NM_001364905.1(LRBA):c.835A>G (p.Ile279Val)987LRBAUncertain significancers773593225RCV001338261; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151837612151837612TC151837612-
NM_001364905.1(LRBA):c.814G>T (p.Gly272Cys)987LRBAUncertain significancers1364049271RCV001298817; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151837633151837633CA151837633-
NM_001364905.1(LRBA):c.802C>T (p.His268Tyr)987LRBAUncertain significancers916401126RCV000791563; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151837645151837645GA4:g.151837645G>A-
NM_001364905.1(LRBA):c.794A>G (p.Tyr265Cys)987LRBAUncertain significancers1732602932RCV001043428; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151837653151837653TC4:g.151837653T>C-
NM_001364905.1(LRBA):c.787C>G (p.Leu263Val)987LRBAConflicting interpretations of pathogenicityrs143625481RCV000724776|RCV001087671; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151837660151837660GC4:g.151837660G>CClinGen:CA247255C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.737A>G (p.Asn246Ser)987LRBAUncertain significancers753938783RCV000698585; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151837799151837799TC4:g.151837799T>C-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.717G>T (p.Met239Ile)987LRBAUncertain significance-1RCV001369918; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151837819151837819CA151837819-
NM_001364905.1(LRBA):c.705A>G (p.Thr235=)987LRBALikely benign-1RCV001449224; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151837831151837831TC151837831-
NM_001364905.1(LRBA):c.664A>G (p.Ile222Val)987LRBAUncertain significancers777489371RCV001233797; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151837872151837872TC4:g.151837872T>C-
NC_000004.12:g.(?_150921178)_(150921313_?)del987LRBAUncertain significance-1RCV000817285; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151842330151842465nana-
NM_001364905.1(LRBA):c.637A>G (p.Ser213Gly)987LRBAUncertain significancers538370042RCV001234191; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151842358151842358TC4:g.151842358T>C-
NM_001364905.1(LRBA):c.627T>G (p.Phe209Leu)987LRBAUncertain significancers1439493221RCV001342387; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151842368151842368AC151842368-
NM_001364905.1(LRBA):c.623A>T (p.Asn208Ile)987LRBAUncertain significancers367554815RCV001326160; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151842372151842372TA151842372-
NM_001364905.1(LRBA):c.612T>C (p.Asp204=)987LRBALikely benign-1RCV001470163; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151842383151842383AG151842383-
NM_001364905.1(LRBA):c.558T>A (p.His186Gln)987LRBAUncertain significancers768826674RCV001326025; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151842437151842437AT151842437-
NM_001364905.1(LRBA):c.549+6A>C987LRBAUncertain significancers199594598RCV000178281|RCV000650427; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151849662151849662TG4:g.151849662T>GClinGen:CA245329C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.545G>A (p.Arg182Gln)987LRBAUncertain significancers769037604RCV000650422; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151849672151849672CT4:g.151849672C>TClinGen:CA3103839C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.530A>C (p.Gln177Pro)987LRBAUncertain significancers1579231637RCV000794375; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151849687151849687TG4:g.151849687T>G-
NM_001364905.1(LRBA):c.501C>T (p.Arg167=)987LRBAUncertain significancers763929621RCV000794864; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151849716151849716GA4:g.151849716G>A-
NM_001364905.1(LRBA):c.499C>A (p.Arg167Ser)987LRBAUncertain significancers371936024RCV000707726; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151849718151849718GT4:g.151849718G>T-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.499C>T (p.Arg167Cys)987LRBAUncertain significancers371936024RCV001203756; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151849718151849718GA4:g.151849718G>A-
NM_001364905.1(LRBA):c.495A>T (p.Thr165=)987LRBALikely benign-1RCV001474908; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151849722151849722TA151849722-
NM_001364905.1(LRBA):c.448+7T>C987LRBALikely benign-1RCV001449073; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151849979151849979AG151849979-
NM_001364905.1(LRBA):c.448+6A>T987LRBAUncertain significancers746049932RCV001063973; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151849980151849980TA4:g.151849980T>A-
NM_001364905.1(LRBA):c.408A>G (p.Lys136=)987LRBALikely benignrs1579232773RCV000937311|RCV001451196; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850026151850026TC4:g.151850026T>C-
NM_001364905.1(LRBA):c.407A>G (p.Lys136Arg)987LRBAUncertain significance-1RCV001373771; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850027151850027TC151850027-
NM_001364905.1(LRBA):c.396C>T (p.Gly132=)987LRBALikely benign-1RCV001451630; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850038151850038GA151850038-
NM_001364905.1(LRBA):c.392T>C (p.Val131Ala)987LRBAUncertain significancers770434240RCV001338484; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850042151850042AG151850042-
NM_001364905.1(LRBA):c.375T>A (p.Leu125=)987LRBALikely benignrs202090159RCV000963839; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850059151850059AT4:g.151850059A>T-
NM_001364905.1(LRBA):c.361A>G (p.Ser121Gly)987LRBAUncertain significancers1329598341RCV001247042; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850073151850073TC4:g.151850073T>C-
NM_001364905.1(LRBA):c.349A>G (p.Ile117Val)987LRBAUncertain significancers138267366RCV000690119; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850085151850085TC4:g.151850085T>C-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.337A>G (p.Met113Val)987LRBAUncertain significancers369275377RCV001051147; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850097151850097TC4:g.151850097T>C-
NM_001364905.1(LRBA):c.322G>A (p.Ala108Thr)987LRBAUncertain significancers1579233186RCV000805371; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850112151850112CT4:g.151850112C>T-
NM_001364905.1(LRBA):c.319C>A (p.Gln107Lys)987LRBAUncertain significancers373476644RCV000811212; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850115151850115GT4:g.151850115G>T-
NM_001364905.1(LRBA):c.315G>A (p.Thr105=)987LRBABenign-1RCV001511503; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850119151850119CT151850119-
NM_001364905.1(LRBA):c.281G>T (p.Cys94Phe)987LRBAUncertain significancers771839194RCV000702343|RCV001766541; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN5172024151850153151850153CA4:g.151850153C>A-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.240G>A (p.Leu80=)987LRBAConflicting interpretations of pathogenicityrs765297527RCV001310499|RCV001437502; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850194151850194CT151850194-
NM_001364905.1(LRBA):c.224G>C (p.Gly75Ala)987LRBAUncertain significancers370110788RCV000822390; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850210151850210CG4:g.151850210C>G-
NM_001364905.1(LRBA):c.224G>A (p.Gly75Glu)987LRBAUncertain significancers370110788RCV001050160; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850210151850210CT4:g.151850210C>T-
NM_001364905.1(LRBA):c.217-9C>T987LRBABenignrs1163872504RCV000555180; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850226151850226GA4:g.151850226G>AClinGen:CA555562556
NM_001364905.1(LRBA):c.217-21_217-20dup987LRBABenignrs766044503RCV000884711; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850226151850227GGAA4:g.151850226_151850227insAA-
NM_001364905.1(LRBA):c.217-21dup987LRBABenign-1RCV001515473|RCV001655751|RCV001699796; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:445018|MedGen:CN517202|MedGen:CN1693744151850226151850227GGA151850226-
NM_001364905.1(LRBA):c.217-10del987LRBABenign-1RCV001512217; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151850227151850227GAG151850226-
NC_000004.10:g.152111739_152222852del987LRBAPathogenic-1RCV000029137; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151892289152003402nanaOMIM:606453.0004C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NC_000004.11:g.(?_151935559)_(151935794_?)dup987LRBAUncertain significance-1RCV001372385; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935559151935794nana-1-
NM_001364905.1(LRBA):c.205_206del (p.Val69fs)987LRBAPathogenicrs1745202896RCV001229147; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935589151935590GACG4:g.151935589_151935590del-
NM_001364905.1(LRBA):c.204T>C (p.Thr68=)987LRBABenignrs143383047RCV000530002; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935591151935591AG4:g.151935591A>GClinGen:CA3103944C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr)987LRBAConflicting interpretations of pathogenicityrs148385798RCV000768012; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935601151935601AG4:g.151935601A>G-
NM_001364905.1(LRBA):c.192T>G (p.Asp64Glu)987LRBAUncertain significancers1222697259RCV000703844; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935603151935603AC4:g.151935603A>C-
NM_001364905.1(LRBA):c.191A>G (p.Asp64Gly)987LRBAUncertain significancers1579508366RCV000805668; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935604151935604TC4:g.151935604T>C-
NM_001364905.1(LRBA):c.188G>C (p.Arg63Thr)987LRBAUncertain significancers756946124RCV000689343; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935607151935607CG4:g.151935607C>G-C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.185A>G (p.Asn62Ser)987LRBAUncertain significancers143386737RCV001052860; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935610151935610TC4:g.151935610T>C-
NM_001364905.1(LRBA):c.184A>G (p.Asn62Asp)987LRBAUncertain significancers368681065RCV001209007; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935611151935611TC4:g.151935611T>C-
NM_001364905.1(LRBA):c.175G>T (p.Glu59Ter)987LRBAPathogenicrs199469664RCV000029136; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935620151935620CA4:g.151935620C>AClinGen:CA129912,OMIM:606453.0003C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.169G>A (p.Val57Ile)987LRBAUncertain significancers748548283RCV000815887; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935626151935626CT4:g.151935626C>T-
NM_001364905.1(LRBA):c.149T>C (p.Val50Ala)987LRBAUncertain significancers1313934523RCV000810326; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935646151935646AG4:g.151935646A>G-
NM_001364905.1(LRBA):c.134G>A (p.Arg45Lys)987LRBAUncertain significancers1745213497RCV001314844; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935661151935661CT151935661-
NM_001364905.1(LRBA):c.130A>G (p.Ile44Val)987LRBAUncertain significancers199922826RCV000805033; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935665151935665TC4:g.151935665T>C-
NM_001364905.1(LRBA):c.116T>C (p.Leu39Pro)987LRBAUncertain significancers1345711760RCV000822925; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935679151935679AG4:g.151935679A>G-
NM_001364905.1(LRBA):c.114G>T (p.Gly38=)987LRBABenign/Likely benignrs72721739RCV000488203|RCV001081681; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935681151935681CA4:g.151935681C>AClinGen:CA3103965C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.114G>A (p.Gly38=)987LRBALikely benign-1RCV001467246; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935681151935681CT151935681-
NM_001364905.1(LRBA):c.113G>T (p.Gly38Val)987LRBAUncertain significancers757110699RCV001064948; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935682151935682CA4:g.151935682C>A-
NM_001364905.1(LRBA):c.109C>T (p.Pro37Ser)987LRBAUncertain significancers374519451RCV001313670; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935686151935686GA151935686-
NM_001364905.1(LRBA):c.103C>T (p.Leu35=)987LRBALikely benignrs142755995RCV000935745; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935692151935692GA4:g.151935692G>A-
NM_001364905.1(LRBA):c.89G>C (p.Gly30Ala)987LRBAUncertain significancers754377116RCV000805654; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935706151935706CG4:g.151935706C>G-
NM_001364905.1(LRBA):c.88G>A (p.Gly30Arg)987LRBAUncertain significancers780927941RCV001312850; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935707151935707CT151935707-
NM_001364905.1(LRBA):c.79C>G (p.Pro27Ala)987LRBAUncertain significancers1745221619RCV001325746; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935716151935716GC151935716-
NM_001364905.1(LRBA):c.69A>G (p.Arg23=)987LRBALikely benignrs1579509027RCV000933990|RCV001444902; NMedGen:CN517202|MONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935726151935726TC4:g.151935726T>C-
NM_001364905.1(LRBA):c.62G>C (p.Gly21Ala)987LRBAUncertain significancers1745222833RCV001294898; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935733151935733CG151935733-
NM_001364905.1(LRBA):c.53G>T (p.Gly18Val)987LRBAUncertain significancers749860824RCV000691707; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935742151935742CA4:g.151935742C>A-
NM_001364905.1(LRBA):c.52G>A (p.Gly18Arg)987LRBABenignrs150755521RCV000892059; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935743151935743CT4:g.151935743C>T-
NM_001364905.1(LRBA):c.40A>G (p.Thr14Ala)987LRBAUncertain significancers1200143430RCV001226769; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935755151935755TC4:g.151935755T>C-
NM_001364905.1(LRBA):c.31C>G (p.Pro11Ala)987LRBAUncertain significancers1745228616RCV001037584; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935764151935764GC4:g.151935764G>C-
NM_001364905.1(LRBA):c.25C>T (p.Pro9Ser)987LRBAUncertain significancers1465852898RCV001207943; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935770151935770GA4:g.151935770G>A-
NM_001364905.1(LRBA):c.19C>T (p.Arg7Cys)987LRBAUncertain significancers1163553946RCV001046974; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935776151935776GA4:g.151935776G>A-
NM_001364905.1(LRBA):c.4_16dup (p.Asn6delinsSerTer)987LRBAPathogenicrs1554020278RCV000650400; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935778151935779TTTGTCTTCGCTAGC4:g.151935778_151935779insTGTCTTCGCTAGCClinGen:CA658796473C3553512 614700 Common variable immunodeficiency 8, with autoimmunity;
NM_001364905.1(LRBA):c.1A>G (p.Met1Val)987LRBAUncertain significancers752404257RCV001060712; NMONDO:MONDO:0013863,MedGen:C3553512,OMIM:614700, Orphanet:4450184151935794151935794TC4:g.151935794T>C-
MSeqDR Portal