Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003721.4(RFXANK):c.271+1G>C	SNV Germline	Chr19:19197047	Pathogenic/Likely pathogenic	MHC class II deficiency MHC CLASS II DEFICIENCY 2 MHC CLASS II DEFICIENCY 3	Criteria Provided Multiple Submitters No Conflicts		rs_759667201	4 SubmittersRCV001261596 RCV004576879 RCV004018579
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val)	SNV Germline	Chr19:19197545	Pathogenic/Likely pathogenic	Condition: not provided MHC class II deficiency MHC CLASS II DEFICIENCY 2	Criteria Provided Multiple Submitters No Conflicts	CA118365	rs_104894709	7 SubmittersRCV000788451 RCV000985115 RCV004576880
NM_001025603.2(RFX5):c.116+5G>A	SNV Germline	Chr1:151346200	Pathogenic	MHC CLASS II DEFICIENCY 3	No Assertion Criteria Provided		rs_556806561	1 SubmittersRCV004562199
NM_001025603.2(RFX5):c.234-1G>A	SNV Germline	Chr1:151344848	Pathogenic	Condition: not provided MHC CLASS II DEFICIENCY 3	Criteria Provided Single Submitter		rs_748270285	2 SubmittersRCV000788189 RCV004562201
NM_001025603.2(RFX5):c.151-1G>A	SNV Germline	Chr1:151345189	Pathogenic	MHC CLASS II DEFICIENCY 3	No Assertion Criteria Provided		rs_2102068023	1 SubmittersRCV000008086
NM_000538.4(RFXAP):c.163C>T (p.Gln55Ter)	SNV Germline	Chr13:36819520	Pathogenic	MHC CLASS II DEFICIENCY 4	No Assertion Criteria Provided	CA118954	rs_137853098	1 SubmittersRCV004576887
NM_000246.4(CIITA):c.1141G>T (p.Glu381Ter)	SNV Germline	Chr16:10906633	Pathogenic	MHC class II deficiency 1	No Assertion Criteria Provided	CA120530	rs_137852602	1 SubmittersRCV004566712
NM_000246.4(CIITA):c.3317+1G>A	SNV Germline	Chr16:10922491	Pathogenic	MHC class II deficiency 1	No Assertion Criteria Provided	CA212922	rs_771073292	1 SubmittersRCV004566713
NM_000246.4(CIITA):c.2063G>A (p.Trp688Ter)	SNV Germline	Chr16:10907555	Pathogenic	MHC class II deficiency MHC class II deficiency 1	Criteria Provided Single Submitter	CA278871	rs_863223293	2 SubmittersRCV003522919 RCV004566714
NM_000538.4(RFXAP):c.323T>A (p.Leu108Ter)	SNV Germline	Chr13:36819680	Pathogenic	MHC class II deficiency	No Assertion Criteria Provided	CA204374	rs_754240018	1 SubmittersRCV000190356
NM_001025603.2(RFX5):c.1236A>G (p.Thr412=)	SNV Germline	Chr1:151342801	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA1089637	rs_771403545	2 SubmittersRCV000360375
NM_001025603.2(RFX5):c.858+13G>A	SNV Germline	Chr1:151343329	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA1089733	rs_778371620	2 SubmittersRCV000319991
NM_000538.4(RFXAP):c.15T>C (p.Gly5=)	SNV Germline	Chr13:36819372	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA6950166	rs_772887500	2 SubmittersRCV000393909
NM_000538.4(RFXAP):c.312C>T (p.Ser104=)	SNV Germline	Chr13:36819669	Conflicting classifications of pathogenicity	MHC class II deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA6950195	rs_373233313	3 SubmittersRCV000404296 RCV003391118
NM_000538.4(RFXAP):c.666A>G (p.Ala222=)	SNV Germline	Chr13:36825493	Conflicting classifications of pathogenicity	MHC class II deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA6950258	rs_139675642	5 SubmittersRCV000369780 RCV001729522
NM_000246.4(CIITA):c.384C>T (p.Ile128=)	SNV Germline	Chr16:10898950	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA7899696	rs_140106499	3 SubmittersRCV000285263
NM_000246.4(CIITA):c.456G>A (p.Pro152=)	SNV Germline	Chr16:10901533	Conflicting classifications of pathogenicity	MHC class II deficiency CIITA-related disorder	Criteria Provided Conflicting Classifications	CA7899733	rs_151317882	4 SubmittersRCV000340276 RCV003922332
NM_000246.4(CIITA):c.492C>G (p.Pro164=)	SNV Germline	Chr16:10902048	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA7899785	rs_142478532	2 SubmittersRCV000309745
NM_000246.4(CIITA):c.772+8C>T	SNV Germline	Chr16:10902809	Conflicting classifications of pathogenicity	MHC class II deficiency CIITA-related disorder	Criteria Provided Conflicting Classifications	CA7899884	rs_557455283	4 SubmittersRCV000406701 RCV003950081
NM_000246.4(CIITA):c.1518G>A (p.Ala506=)	SNV Germline	Chr16:10907010	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA7900156	rs_201215476	3 SubmittersRCV000283889
NM_000246.4(CIITA):c.1542G>A (p.Thr514=)	SNV Germline	Chr16:10907034	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA7900161	rs_2228239	3 SubmittersRCV000348120
NM_000246.4(CIITA):c.2651G>A (p.Arg884His)	SNV Germline	Chr16:10908143	Conflicting classifications of pathogenicity	MHC class II deficiency MHC class II deficiency Rheumatoid arthritis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7900429	rs_374443915	6 SubmittersRCV000352360 RCV002487397 RCV004021643
NM_000246.4(CIITA):c.2709G>A (p.Gly903=)	SNV Germline	Chr16:10909080	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA7900477	rs_755515727	2 SubmittersRCV000338335
NM_000246.4(CIITA):c.3123G>C (p.Ser1041=)	SNV Germline	Chr16:10918500	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA7900672	rs_138925894	2 SubmittersRCV000391583
NM_003721.4(RFXANK):c.187+13C>T	SNV Germline	Chr19:19194146	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA9322612	rs_201778172	2 SubmittersRCV000351131
NM_003721.4(RFXANK):c.213C>T (p.Thr71=)	SNV Germline	Chr19:19196988	Conflicting classifications of pathogenicity	MHC class II deficiency not specified	Criteria Provided Conflicting Classifications	CA9322637	rs_72997200	3 SubmittersRCV000394702 RCV000454492
NM_003721.4(RFXANK):c.240C>T (p.Asn80=)	SNV Germline	Chr19:19197015	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA9322644	rs_754519730	2 SubmittersRCV000311507
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=)	SNV Germline	Chr16:10907223	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA7900206	rs_142848848	3 SubmittersRCV000289526
NM_000538.4(RFXAP):c.77C>G (p.Pro26Arg)	SNV Germline	Chr13:36819434	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA6950170	rs_763162669	2 SubmittersRCV000308335
NM_000246.4(CIITA):c.1006+12G>A	SNV Germline	Chr16:10904824	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA7899999	rs_368964652	2 SubmittersRCV000275429
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=)	SNV Germline	Chr16:10906539	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA7900042	rs_144735718	3 SubmittersRCV000330475
NM_000246.4(CIITA):c.*103T>C	SNV Germline	Chr16:10923958	Conflicting classifications of pathogenicity	MHC class II deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10646923	rs_45617532	2 SubmittersRCV000364465 RCV003409494
NM_000246.4(CIITA):c.1635C>G (p.Leu545=)	SNV Germline	Chr16:10907127	Conflicting classifications of pathogenicity	MHC class II deficiency CIITA-related disorder	Criteria Provided Conflicting Classifications	CA7900188	rs_748330320	3 SubmittersRCV000384054 RCV003892127
NM_000246.4(CIITA):c.1926C>T (p.Val642=)	SNV Germline	Chr16:10907418	Conflicting classifications of pathogenicity	MHC class II deficiency CIITA-related disorder	Criteria Provided Conflicting Classifications	CA7900247	rs_138376967	4 SubmittersRCV000344460 RCV003910203
NM_000246.4(CIITA):c.2148C>T (p.Phe716=)	SNV Germline	Chr16:10907640	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA7900305	rs_762483007	2 SubmittersRCV000355229
NM_000246.4(CIITA):c.3063-12G>T	SNV Germline	Chr16:10918428	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA7900657	rs_559875711	2 SubmittersRCV000334618
NM_000246.4(CIITA):c.3149+11C>T	SNV Germline	Chr16:10918537	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA7900678	rs_371453398	2 SubmittersRCV000304278
NM_003721.4(RFXANK):c.765G>A (p.Val255=)	SNV Germline	Chr19:19201701	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA9322953	rs_113406972	2 SubmittersRCV000305379
NM_001025603.2(RFX5):c.892G>A (p.Gly298Ser)	SNV Germline	Chr1:151343145	Conflicting classifications of pathogenicity	MHC class II deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA1089713	rs_146341254	2 SubmittersRCV000552776 RCV003409807
NM_000246.4(CIITA):c.2892G>A (p.Leu964=)	SNV Germline	Chr16:10915573	Conflicting classifications of pathogenicity	MHC class II deficiency CIITA-related disorder	Criteria Provided Conflicting Classifications	CA7900575	rs_200599265	3 SubmittersRCV000540259 RCV003925607
NM_000246.4(CIITA):c.2888+1G>A	SNV Germline	Chr16:10910260	Conflicting classifications of pathogenicity	Condition: not provided MHC class II deficiency MHC class II deficiency 1	Criteria Provided Conflicting Classifications	CA7900531	rs_372826934	7 SubmittersRCV000594687 RCV000778455 RCV004568315
NM_000246.4(CIITA):c.170C>A (p.Ala57Asp)	SNV Germline	Chr16:10895399	Conflicting classifications of pathogenicity	MHC class II deficiency Rheumatoid arthritis	Criteria Provided Conflicting Classifications	CA394725903	rs_1555500356	3 SubmittersRCV000634008 RCV002248836
NM_000246.4(CIITA):c.629-9C>T	SNV Germline	Chr16:10902649	Conflicting classifications of pathogenicity	MHC class II deficiency CIITA-related disorder	Criteria Provided Conflicting Classifications	CA7899853	rs_372749477	2 SubmittersRCV000634021 RCV003953119
NM_000246.4(CIITA):c.1068G>A (p.Pro356=)	SNV Germline	Chr16:10906560	Conflicting classifications of pathogenicity	MHC class II deficiency Condition: not provided CIITA-related disorder	Criteria Provided Conflicting Classifications	CA7900050	rs_140486686	4 SubmittersRCV000634020 RCV003411505 RCV003980225
NM_000246.4(CIITA):c.2026C>T (p.Gln676Ter)	SNV Germline	Chr16:10907518	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter	CA394732235	rs_901844850	1 SubmittersRCV000634006
NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn)	SNV Germline	Chr19:19198113	Conflicting classifications of pathogenicity	MHC class II deficiency RFXANK-related disorder	Criteria Provided Conflicting Classifications	CA9322769	rs_115220304	4 SubmittersRCV000647953 RCV003945639
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val)	SNV Germline	Chr19:19194041	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications	CA9322594	rs_114064359	2 SubmittersRCV000647950
NM_001025603.2(RFX5):c.1639G>A (p.Gly547Ser)	SNV Germline	Chr1:151342398	Conflicting classifications of pathogenicity	Condition: not provided MHC class II deficiency not specified	Criteria Provided Conflicting Classifications		rs_147579805	3 SubmittersRCV000788161 RCV000699769 RCV004026485
NM_001025603.2(RFX5):c.1805G>A (p.Ser602Asn)	SNV Germline	Chr1:151342232	Conflicting classifications of pathogenicity	MHC class II deficiency RFX5-related disorder not specified	Criteria Provided Conflicting Classifications		rs_371115213	4 SubmittersRCV000695303 RCV003420234 RCV004025237
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter)	SNV Germline	Chr13:36819484	Pathogenic/Likely pathogenic	MHC class II deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1313207845	5 SubmittersRCV000686231 RCV002282326
NM_000246.4(CIITA):c.931A>G (p.Met311Val)	SNV Germline	Chr16:10903889	Conflicting classifications of pathogenicity	MHC class II deficiency Rheumatoid arthritis MHC class II deficiency CIITA-related disorder	Criteria Provided Conflicting Classifications		rs_140139362	4 SubmittersRCV000767937 RCV003224398 RCV003413555
NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter)	SNV Germline	Chr19:19197620	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_778357787	2 SubmittersRCV000779255
NM_003721.4(RFXANK):c.558T>A (p.Tyr186Ter)	SNV Germline	Chr19:19198226	Pathogenic/Likely pathogenic	Condition: not provided MHC class II deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1599784374	2 SubmittersRCV000788774 RCV001261595
NM_003721.4(RFXANK):c.338-13C>G	SNV Germline	Chr19:19197508	Conflicting classifications of pathogenicity	Condition: not provided MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_749579925	3 SubmittersRCV000788268 RCV001122153
NM_000246.4(CIITA):c.20G>A (p.Arg7His)	SNV Germline	Chr16:10877350	Conflicting classifications of pathogenicity	MHC class II deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_374703179	3 SubmittersRCV000819315 RCV002535500
NM_000246.4(CIITA):c.922C>T (p.Arg308Ter)	SNV Germline	Chr16:10903880	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_567218474	1 SubmittersRCV000822644
NM_000246.4(CIITA):c.3175G>A (p.Val1059Met)	SNV Germline	Chr16:10922192	Conflicting classifications of pathogenicity	MHC class II deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200742204	3 SubmittersRCV000802560 RCV002534715
NM_001025603.2(RFX5):c.556-2A>G	SNV Germline	Chr1:151343884	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_1571260171	1 SubmittersRCV000818355
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn)	SNV Germline	Chr16:10901537	Conflicting classifications of pathogenicity	MHC class II deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_76923280	4 SubmittersRCV000971865 RCV002292597
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met)	SNV Germline	Chr16:10906953	Conflicting classifications of pathogenicity	MHC class II deficiency CIITA-related disorder	Criteria Provided Conflicting Classifications		rs_141202424	4 SubmittersRCV000967160 RCV003962837
NM_001025603.2(RFX5):c.1830C>G (p.Asp610Glu)	SNV Germline	Chr1:151342207	Conflicting classifications of pathogenicity	MHC class II deficiency not specified	Criteria Provided Conflicting Classifications		rs_141889707	3 SubmittersRCV000887840 RCV004028368
NM_001025603.2(RFX5):c.233+4G>C	SNV Germline	Chr1:151345102	Conflicting classifications of pathogenicity	MHC class II deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_2233846	5 SubmittersRCV000880746 RCV003411875
NM_001025603.2(RFX5):c.477T>C (p.Tyr159=)	SNV Germline	Chr1:151344275	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_144353639	2 SubmittersRCV000897538
NM_000246.4(CIITA):c.3357C>T (p.His1119=)	SNV Germline	Chr16:10923267	Conflicting classifications of pathogenicity	MHC class II deficiency CIITA-related disorder	Criteria Provided Conflicting Classifications		rs_754706834	3 SubmittersRCV000912855 RCV003970380
NM_000246.4(CIITA):c.2442C>T (p.His814=)	SNV Germline	Chr16:10907934	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_746490057	2 SubmittersRCV000933328
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=)	SNV Germline	Chr16:10916400	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_143497260	3 SubmittersRCV000943673
NM_003721.4(RFXANK):c.501C>A (p.Gly167=)	SNV Germline	Chr19:19198169	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_145457604	2 SubmittersRCV000944157
NM_003721.4(RFXANK):c.529C>G (p.Leu177Val)	SNV Germline	Chr19:19198197	Conflicting classifications of pathogenicity	MHC class II deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_151053440	3 SubmittersRCV000943941 RCV003169441
NM_000246.4(CIITA):c.2817-10T>C	SNV Germline	Chr16:10910178	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_75381106	3 SubmittersRCV000960531
NM_003721.4(RFXANK):c.584T>C (p.Leu195Pro)	SNV Germline	Chr19:19198676	Likely pathogenic	Inherited Immunodeficiency Diseases MHC CLASS II DEFICIENCY 2	Criteria Provided Single Submitter		rs_751386365	2 SubmittersRCV001027618 RCV004576980
NM_000246.4(CIITA):c.2817-8C>G	SNV Germline	Chr16:10910180	Conflicting classifications of pathogenicity	MHC class II deficiency Rheumatoid arthritis MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_775728920	2 SubmittersRCV001027817 RCV001496304
NM_000246.4(CIITA):c.2104G>A (p.Ala702Thr)	SNV Germline	Chr16:10907596	Conflicting classifications of pathogenicity	MHC class II deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_760410085	2 SubmittersRCV001063893 RCV004030515
NM_003721.4(RFXANK):c.232C>T (p.Arg78Ter)	SNV Germline	Chr19:19197007	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_779699696	2 SubmittersRCV001051631
NM_003721.4(RFXANK):c.438+5G>A	SNV Germline	Chr19:19197626	Conflicting classifications of pathogenicity	MHC class II deficiency MHC CLASS II DEFICIENCY 2	Criteria Provided Conflicting Classifications		rs_1196984337	4 SubmittersRCV001047583 RCV004576981
NM_000246.4(CIITA):c.2657+1G>A	SNV Germline	Chr16:10908150	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_2039309312	1 SubmittersRCV001049273
NM_001025603.2(RFX5):c.1797G>A (p.Val599=)	SNV Germline	Chr1:151342240	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_772352167	2 SubmittersRCV001099487
NM_001025603.2(RFX5):c.807T>G (p.Gly269=)	SNV Germline	Chr1:151343393	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_147137349	2 SubmittersRCV001096024
NM_001025603.2(RFX5):c.859-15C>T	SNV Germline	Chr1:151343193	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_377295214	2 SubmittersRCV001096023
NM_001025603.2(RFX5):c.117-13C>T	SNV Germline	Chr1:151345974	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_371670135	2 SubmittersRCV001097796
NM_000246.4(CIITA):c.-84C>T	SNV Germline	Chr16:10877247	Conflicting classifications of pathogenicity	MHC class II deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_45519531	2 SubmittersRCV001118586 RCV003405327
NM_000246.4(CIITA):c.366A>T (p.Ile122=)	SNV Germline	Chr16:10898932	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_535705691	2 SubmittersRCV001120410
NM_000246.4(CIITA):c.948G>A (p.Thr316=)	SNV Germline	Chr16:10904754	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_369971838	3 SubmittersRCV001116940
NM_000246.4(CIITA):c.1944A>T (p.Ala648=)	SNV Germline	Chr16:10907436	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_778678693	2 SubmittersRCV001115614
NM_000246.4(CIITA):c.2139G>A (p.Leu713=)	SNV Germline	Chr16:10907631	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_1319022837	2 SubmittersRCV001117041
NM_000246.4(CIITA):c.2409G>A (p.Ala803=)	SNV Germline	Chr16:10907901	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_755302593	2 SubmittersRCV001118673
NM_000246.4(CIITA):c.2832G>T (p.Ser944=)	SNV Germline	Chr16:10910203	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_766538754	2 SubmittersRCV001115704
NM_000246.4(CIITA):c.3012C>T (p.Val1004=)	SNV Germline	Chr16:10916409	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_751445508	2 SubmittersRCV001117130
NM_000246.4(CIITA):c.3234C>T (p.Asp1078=)	SNV Germline	Chr16:10922407	Conflicting classifications of pathogenicity	MHC class II deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_201907821	3 SubmittersRCV001118767 RCV004032212
NM_000246.4(CIITA):c.2816+14C>T	SNV Germline	Chr16:10909201	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_191941806	2 SubmittersRCV001115703
NM_000246.4(CIITA):c.3062+14G>A	SNV Germline	Chr16:10916473	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_370557976	2 SubmittersRCV001117132
NM_000246.4(CIITA):c.3318-8C>G	SNV Germline	Chr16:10923220	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_201115726	2 SubmittersRCV001118769
NM_003721.4(RFXANK):c.660C>T (p.Ala220=)	SNV Germline	Chr19:19199182	Conflicting classifications of pathogenicity	MHC class II deficiency	Criteria Provided Conflicting Classifications		rs_138423094	2 SubmittersRCV001125897
NM_000246.4(CIITA):c.3062+2T>C	SNV Germline	Chr16:10916461	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_2039957389	1 SubmittersRCV001204286
NM_000246.4(CIITA):c.1802G>A (p.Arg601Gln)	SNV Germline	Chr16:10907294	Conflicting classifications of pathogenicity	MHC class II deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_753947354	3 SubmittersRCV001246349 RCV004034861
NM_000246.4(CIITA):c.3197G>A (p.Arg1066His)	SNV Germline	Chr16:10922214	Conflicting classifications of pathogenicity	MHC class II deficiency MHC class II deficiency Rheumatoid arthritis Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_142072017	4 SubmittersRCV001247716 RCV002491842 RCV002570358
NM_003721.4(RFXANK):c.713-1G>A	SNV Germline	Chr19:19201648	Pathogenic/Likely pathogenic	MHC class II deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_2060720733	3 SubmittersRCV001283768
NM_001025603.2(RFX5):c.353+2T>G	SNV Germline	Chr1:151344726	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_1183832067	1 SubmittersRCV001376181
NM_000246.4(CIITA):c.359-2A>G	SNV Germline	Chr16:10898923	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_2144414230	2 SubmittersRCV001379544
NM_000246.4(CIITA):c.436+1G>A	SNV Germline	Chr16:10899003	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_373613022	2 SubmittersRCV001379491
NM_000246.4(CIITA):c.938-2A>G	SNV Germline	Chr16:10904742	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_2144645392	1 SubmittersRCV001379510
NM_001025603.2(RFX5):c.273T>G (p.Tyr91Ter)	SNV Germline	Chr1:151344808	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_1650858382	1 SubmittersRCV001385734
NM_000246.4(CIITA):c.36C>A (p.Tyr12Ter)	SNV Germline	Chr16:10877366	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_367628451	1 SubmittersRCV001390888
NM_000246.4(CIITA):c.1240C>T (p.Arg414Ter)	SNV Germline	Chr16:10906732	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_2144701260	1 SubmittersRCV001385360
NM_000246.4(CIITA):c.1717C>T (p.Gln573Ter)	SNV Germline	Chr16:10907209	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_2144718631	1 SubmittersRCV001385767
NM_000246.4(CIITA):c.2014C>T (p.Gln672Ter)	SNV Germline	Chr16:10907506	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_2144728494	1 SubmittersRCV001386216
NM_003721.4(RFXANK):c.634C>T (p.Arg212Ter)	SNV Germline	Chr19:19199156	Pathogenic	MHC class II deficiency MHC CLASS II DEFICIENCY 2	Criteria Provided Multiple Submitters No Conflicts		rs_747402973	4 SubmittersRCV001388116 RCV004576989
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln)	SNV Germline	Chr16:10907876	Conflicting classifications of pathogenicity	MHC class II deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_553503699	4 SubmittersRCV001511754 RCV002568017
NM_000246.4(CIITA):c.1389T>G (p.Tyr463Ter)	SNV Germline	Chr16:10906881	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_1306793050	1 SubmittersRCV001919931
NM_000246.4(CIITA):c.3361C>T (p.Gln1121Ter)	SNV Germline	Chr16:10923271	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_2145173097	1 SubmittersRCV001943314
NM_001025603.2(RFX5):c.1016C>G (p.Ser339Ter)	SNV Germline	Chr1:151343021	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_992795118	1 SubmittersRCV001991699
NM_000246.4(CIITA):c.2479C>T (p.Gln827Ter)	SNV Germline	Chr16:10907971	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_2144743127	1 SubmittersRCV001960612
NM_000246.4(CIITA):c.2740A>T (p.Lys914Ter)	SNV Germline	Chr16:10909111	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_2144769768	1 SubmittersRCV001921092
NM_000246.4(CIITA):c.199+1G>A	SNV Germline	Chr16:10895429	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_777089127	1 SubmittersRCV002019262
NM_003721.4(RFXANK):c.532G>T (p.Glu178Ter)	SNV Germline	Chr19:19198200	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_2146493181	1 SubmittersRCV001944477
NM_001025603.2(RFX5):c.880C>T (p.Arg294Ter)	SNV Germline	Chr1:151343157	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_1196551559	1 SubmittersRCV001959732
NM_001025603.2(RFX5):c.474-2A>G	SNV Germline	Chr1:151344280	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_2102065180	1 SubmittersRCV002045058
NM_003721.4(RFXANK):c.82G>A (p.Gly28Arg)	SNV Germline	Chr19:19194028	Conflicting classifications of pathogenicity	MHC class II deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_559367724	2 SubmittersRCV001921746 RCV004044235
NM_000246.4(CIITA):c.682C>T (p.Gln228Ter)	SNV Germline	Chr16:10902711	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_2144582937	1 SubmittersRCV001956226
NM_001025603.2(RFX5):c.445C>T (p.Arg149Ter)	SNV Germline	Chr1:151344445	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_1489967497	1 SubmittersRCV001930685
NM_000246.4(CIITA):c.2889-1G>T	SNV Germline	Chr16:10915569	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_748505119	1 SubmittersRCV001992300
NM_001025603.2(RFX5):c.555+1G>C	SNV Germline	Chr1:151344196	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter		rs_367771361	1 SubmittersRCV002238570
NM_001025603.2(RFX5):c.859-2A>G	SNV Germline	Chr1:151343180	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002308617
NM_001025603.2(RFX5):c.715C>T (p.Arg239Ter)	SNV Germline	Chr1:151343723	Pathogenic	MHC class II deficiency MHC CLASS II DEFICIENCY 3	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003074905 RCV004565683
NM_000246.4(CIITA):c.1423C>T (p.Gln475Ter)	SNV Germline	Chr16:10906915	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002615300
NM_000246.4(CIITA):c.376G>T (p.Glu126Ter)	SNV Germline	Chr16:10898942	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002593156
NM_000246.4(CIITA):c.772+1G>T	SNV Germline	Chr16:10902802	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002740213
NM_000246.4(CIITA):c.1099C>T (p.Gln367Ter)	SNV Germline	Chr16:10906591	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002810229
NM_000246.4(CIITA):c.1615C>T (p.Arg539Ter)	SNV Germline	Chr16:10907107	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002842596
NM_000246.4(CIITA):c.481+1G>A	SNV Germline	Chr16:10901559	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002858358
NM_001025603.2(RFX5):c.151-1G>T	SNV Germline	Chr1:151345189	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002881149
NM_000246.4(CIITA):c.937+2T>C	SNV Germline	Chr16:10903897	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002908989
NM_000246.4(CIITA):c.532G>A (p.Asp178Asn)	SNV Germline	Chr16:10902088	Conflicting classifications of pathogenicity	MHC class II deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002927467 RCV004066313
NM_001025603.2(RFX5):c.757+1G>A	SNV Germline	Chr1:151343680	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003031560
NM_000246.4(CIITA):c.2466G>A (p.Trp822Ter)	SNV Germline	Chr16:10907958	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003019424
NM_001025603.2(RFX5):c.233+1G>T	SNV Germline	Chr1:151345105	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003155824
NM_003721.4(RFXANK):c.564+2T>C	SNV Germline	Chr19:19198234	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003226887
NM_001025603.2(RFX5):c.117-1G>T	SNV Germline	Chr1:151345962	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003479550
NM_000246.4(CIITA):c.2698C>T (p.Gln900Ter)	SNV Germline	Chr16:10909069	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003486310
NM_000246.4(CIITA):c.482-1G>C	SNV Germline	Chr16:10902037	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003524086
NM_001025603.2(RFX5):c.809T>G (p.Leu270Ter)	SNV Germline	Chr1:151343391	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003524116
NM_000246.4(CIITA):c.436+1G>C	SNV Germline	Chr16:10899003	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003524161
NM_000538.4(RFXAP):c.429C>G (p.Tyr143Ter)	SNV Germline	Chr13:36819786	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003524233
NM_000246.4(CIITA):c.2250G>A (p.Trp750Ter)	SNV Germline	Chr16:10907742	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003524235
NM_001025603.2(RFX5):c.961C>T (p.Gln321Ter)	SNV Germline	Chr1:151343076	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003525261
NM_000246.4(CIITA):c.2064G>A (p.Trp688Ter)	SNV Germline	Chr16:10907556	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003524549
NM_000246.4(CIITA):c.2163G>A (p.Trp721Ter)	SNV Germline	Chr16:10907655	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003524785
NM_000246.4(CIITA):c.436+2T>C	SNV Germline	Chr16:10899004	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003522731
NM_001025603.2(RFX5):c.473+2T>C	SNV Germline	Chr1:151344415	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003636152
NM_000246.4(CIITA):c.2203C>T (p.Gln735Ter)	SNV Germline	Chr16:10907695	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003635626
NM_000246.4(CIITA):c.2436C>A (p.Cys812Ter)	SNV Germline	Chr16:10907928	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003636832
NM_000246.4(CIITA):c.200-1G>C	SNV Germline	Chr16:10895668	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003637621
NM_001025603.2(RFX5):c.1408C>T (p.Arg470Ter)	SNV Germline	Chr1:151342629	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003840150
NM_001025603.2(RFX5):c.1499G>A (p.Trp500Ter)	SNV Germline	Chr1:151342538	Pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003853665
NM_000538.4(RFXAP):c.287C>A (p.Ser96Ter)	SNV Germline	Chr13:36819644	Likely pathogenic	MHC class II deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003990853
NM_000538.4(RFXAP):c.219C>G (p.Tyr73Ter)	SNV Germline	Chr13:36819576	Pathogenic	MHC CLASS II DEFICIENCY 4	No Assertion Criteria Provided			1 SubmittersRCV004577051

NM_003721.4(RFXANK):c.271+1G>C

SNV
Germline

Chr19:19197047

Pathogenic/Likely pathogenic

MHC class II deficiency
MHC CLASS II DEFICIENCY 2
MHC CLASS II DEFICIENCY 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_759667201

4 SubmittersRCV001261596 RCV004576879 RCV004018579

NM_003721.4(RFXANK):c.362A>T (p.Asp121Val)

SNV
Germline

Chr19:19197545

Pathogenic/Likely pathogenic

Condition: not provided
MHC class II deficiency
MHC CLASS II DEFICIENCY 2

Criteria Provided
Multiple Submitters
No Conflicts

CA118365

rs_104894709

7 SubmittersRCV000788451 RCV000985115 RCV004576880

NM_001025603.2(RFX5):c.116+5G>A

SNV
Germline

Chr1:151346200

Pathogenic

MHC CLASS II DEFICIENCY 3

No Assertion Criteria Provided

rs_556806561

1 SubmittersRCV004562199

NM_001025603.2(RFX5):c.234-1G>A

SNV
Germline

Chr1:151344848

Pathogenic

Condition: not provided
MHC CLASS II DEFICIENCY 3

Criteria Provided
Single Submitter

rs_748270285

2 SubmittersRCV000788189 RCV004562201

NM_001025603.2(RFX5):c.151-1G>A

SNV
Germline

Chr1:151345189

Pathogenic

MHC CLASS II DEFICIENCY 3

No Assertion Criteria Provided

rs_2102068023

1 SubmittersRCV000008086

NM_000538.4(RFXAP):c.163C>T (p.Gln55Ter)

SNV
Germline

Chr13:36819520

Pathogenic

MHC CLASS II DEFICIENCY 4

No Assertion Criteria Provided

CA118954

rs_137853098

1 SubmittersRCV004576887

NM_000246.4(CIITA):c.1141G>T (p.Glu381Ter)

SNV
Germline

Chr16:10906633

Pathogenic

MHC class II deficiency 1

No Assertion Criteria Provided

CA120530

rs_137852602

1 SubmittersRCV004566712

NM_000246.4(CIITA):c.3317+1G>A

SNV
Germline

Chr16:10922491

Pathogenic

MHC class II deficiency 1

No Assertion Criteria Provided

CA212922

rs_771073292

1 SubmittersRCV004566713

NM_000246.4(CIITA):c.2063G>A (p.Trp688Ter)

SNV
Germline

Chr16:10907555

Pathogenic

MHC class II deficiency
MHC class II deficiency 1

Criteria Provided
Single Submitter

CA278871

rs_863223293

2 SubmittersRCV003522919 RCV004566714

NM_000538.4(RFXAP):c.323T>A (p.Leu108Ter)

SNV
Germline

Chr13:36819680

Pathogenic

MHC class II deficiency

No Assertion Criteria Provided

CA204374

rs_754240018

1 SubmittersRCV000190356

NM_001025603.2(RFX5):c.1236A>G (p.Thr412=)

SNV
Germline

Chr1:151342801

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA1089637

rs_771403545

2 SubmittersRCV000360375

NM_001025603.2(RFX5):c.858+13G>A

SNV
Germline

Chr1:151343329

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA1089733

rs_778371620

2 SubmittersRCV000319991

NM_000538.4(RFXAP):c.15T>C (p.Gly5=)

SNV
Germline

Chr13:36819372

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA6950166

rs_772887500

2 SubmittersRCV000393909

NM_000538.4(RFXAP):c.312C>T (p.Ser104=)

SNV
Germline

Chr13:36819669

Conflicting classifications of pathogenicity

MHC class II deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6950195

rs_373233313

3 SubmittersRCV000404296 RCV003391118

NM_000538.4(RFXAP):c.666A>G (p.Ala222=)

SNV
Germline

Chr13:36825493

Conflicting classifications of pathogenicity

MHC class II deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6950258

rs_139675642

5 SubmittersRCV000369780 RCV001729522

NM_000246.4(CIITA):c.384C>T (p.Ile128=)

SNV
Germline

Chr16:10898950

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA7899696

rs_140106499

3 SubmittersRCV000285263

NM_000246.4(CIITA):c.456G>A (p.Pro152=)

SNV
Germline

Chr16:10901533

Conflicting classifications of pathogenicity

MHC class II deficiency
CIITA-related disorder

Criteria Provided
Conflicting Classifications

CA7899733

rs_151317882

4 SubmittersRCV000340276 RCV003922332

NM_000246.4(CIITA):c.492C>G (p.Pro164=)

SNV
Germline

Chr16:10902048

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA7899785

rs_142478532

2 SubmittersRCV000309745

NM_000246.4(CIITA):c.772+8C>T

SNV
Germline

Chr16:10902809

Conflicting classifications of pathogenicity

MHC class II deficiency
CIITA-related disorder

Criteria Provided
Conflicting Classifications

CA7899884

rs_557455283

4 SubmittersRCV000406701 RCV003950081

NM_000246.4(CIITA):c.1518G>A (p.Ala506=)

SNV
Germline

Chr16:10907010

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA7900156

rs_201215476

3 SubmittersRCV000283889

NM_000246.4(CIITA):c.1542G>A (p.Thr514=)

SNV
Germline

Chr16:10907034

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA7900161

rs_2228239

3 SubmittersRCV000348120

NM_000246.4(CIITA):c.2651G>A (p.Arg884His)

SNV
Germline

Chr16:10908143

Conflicting classifications of pathogenicity

MHC class II deficiency
MHC class II deficiency
Rheumatoid arthritis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7900429

rs_374443915

6 SubmittersRCV000352360 RCV002487397 RCV004021643

NM_000246.4(CIITA):c.2709G>A (p.Gly903=)

SNV
Germline

Chr16:10909080

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA7900477

rs_755515727

2 SubmittersRCV000338335

NM_000246.4(CIITA):c.3123G>C (p.Ser1041=)

SNV
Germline

Chr16:10918500

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA7900672

rs_138925894

2 SubmittersRCV000391583

NM_003721.4(RFXANK):c.187+13C>T

SNV
Germline

Chr19:19194146

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA9322612

rs_201778172

2 SubmittersRCV000351131

NM_003721.4(RFXANK):c.213C>T (p.Thr71=)

SNV
Germline

Chr19:19196988

Conflicting classifications of pathogenicity

MHC class II deficiency
not specified

Criteria Provided
Conflicting Classifications

CA9322637

rs_72997200

3 SubmittersRCV000394702 RCV000454492

NM_003721.4(RFXANK):c.240C>T (p.Asn80=)

SNV
Germline

Chr19:19197015

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA9322644

rs_754519730

2 SubmittersRCV000311507

NM_000246.4(CIITA):c.1731C>T (p.Tyr577=)

SNV
Germline

Chr16:10907223

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA7900206

rs_142848848

3 SubmittersRCV000289526

NM_000538.4(RFXAP):c.77C>G (p.Pro26Arg)

SNV
Germline

Chr13:36819434

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA6950170

rs_763162669

2 SubmittersRCV000308335

NM_000246.4(CIITA):c.1006+12G>A

SNV
Germline

Chr16:10904824

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA7899999

rs_368964652

2 SubmittersRCV000275429

NM_000246.4(CIITA):c.1047T>C (p.Tyr349=)

SNV
Germline

Chr16:10906539

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA7900042

rs_144735718

3 SubmittersRCV000330475

NM_000246.4(CIITA):c.*103T>C

SNV
Germline

Chr16:10923958

Conflicting classifications of pathogenicity

MHC class II deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10646923

rs_45617532

2 SubmittersRCV000364465 RCV003409494

NM_000246.4(CIITA):c.1635C>G (p.Leu545=)

SNV
Germline

Chr16:10907127

Conflicting classifications of pathogenicity

MHC class II deficiency
CIITA-related disorder

Criteria Provided
Conflicting Classifications

CA7900188

rs_748330320

3 SubmittersRCV000384054 RCV003892127

NM_000246.4(CIITA):c.1926C>T (p.Val642=)

SNV
Germline

Chr16:10907418

Conflicting classifications of pathogenicity

MHC class II deficiency
CIITA-related disorder

Criteria Provided
Conflicting Classifications

CA7900247

rs_138376967

4 SubmittersRCV000344460 RCV003910203

NM_000246.4(CIITA):c.2148C>T (p.Phe716=)

SNV
Germline

Chr16:10907640

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA7900305

rs_762483007

2 SubmittersRCV000355229

NM_000246.4(CIITA):c.3063-12G>T

SNV
Germline

Chr16:10918428

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA7900657

rs_559875711

2 SubmittersRCV000334618

NM_000246.4(CIITA):c.3149+11C>T

SNV
Germline

Chr16:10918537

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA7900678

rs_371453398

2 SubmittersRCV000304278

NM_003721.4(RFXANK):c.765G>A (p.Val255=)

SNV
Germline

Chr19:19201701

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA9322953

rs_113406972

2 SubmittersRCV000305379

NM_001025603.2(RFX5):c.892G>A (p.Gly298Ser)

SNV
Germline

Chr1:151343145

Conflicting classifications of pathogenicity

MHC class II deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1089713

rs_146341254

2 SubmittersRCV000552776 RCV003409807

NM_000246.4(CIITA):c.2892G>A (p.Leu964=)

SNV
Germline

Chr16:10915573

Conflicting classifications of pathogenicity

MHC class II deficiency
CIITA-related disorder

Criteria Provided
Conflicting Classifications

CA7900575

rs_200599265

3 SubmittersRCV000540259 RCV003925607

NM_000246.4(CIITA):c.2888+1G>A

SNV
Germline

Chr16:10910260

Conflicting classifications of pathogenicity

Condition: not provided
MHC class II deficiency
MHC class II deficiency 1

Criteria Provided
Conflicting Classifications

CA7900531

rs_372826934

7 SubmittersRCV000594687 RCV000778455 RCV004568315

NM_000246.4(CIITA):c.170C>A (p.Ala57Asp)

SNV
Germline

Chr16:10895399

Conflicting classifications of pathogenicity

MHC class II deficiency
Rheumatoid arthritis

Criteria Provided
Conflicting Classifications

CA394725903

rs_1555500356

3 SubmittersRCV000634008 RCV002248836

NM_000246.4(CIITA):c.629-9C>T

SNV
Germline

Chr16:10902649

Conflicting classifications of pathogenicity

MHC class II deficiency
CIITA-related disorder

Criteria Provided
Conflicting Classifications

CA7899853

rs_372749477

2 SubmittersRCV000634021 RCV003953119

NM_000246.4(CIITA):c.1068G>A (p.Pro356=)

SNV
Germline

Chr16:10906560

Conflicting classifications of pathogenicity

MHC class II deficiency
Condition: not provided
CIITA-related disorder

Criteria Provided
Conflicting Classifications

CA7900050

rs_140486686

4 SubmittersRCV000634020 RCV003411505 RCV003980225

NM_000246.4(CIITA):c.2026C>T (p.Gln676Ter)

SNV
Germline

Chr16:10907518

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

CA394732235

rs_901844850

1 SubmittersRCV000634006

NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn)

SNV
Germline

Chr19:19198113

Conflicting classifications of pathogenicity

MHC class II deficiency
RFXANK-related disorder

Criteria Provided
Conflicting Classifications

CA9322769

rs_115220304

4 SubmittersRCV000647953 RCV003945639

NM_003721.4(RFXANK):c.95C>T (p.Ala32Val)

SNV
Germline

Chr19:19194041

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

CA9322594

rs_114064359

2 SubmittersRCV000647950

NM_001025603.2(RFX5):c.1639G>A (p.Gly547Ser)

SNV
Germline

Chr1:151342398

Conflicting classifications of pathogenicity

Condition: not provided
MHC class II deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_147579805

3 SubmittersRCV000788161 RCV000699769 RCV004026485

NM_001025603.2(RFX5):c.1805G>A (p.Ser602Asn)

SNV
Germline

Chr1:151342232

Conflicting classifications of pathogenicity

MHC class II deficiency
RFX5-related disorder
not specified

Criteria Provided
Conflicting Classifications

rs_371115213

4 SubmittersRCV000695303 RCV003420234 RCV004025237

NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter)

SNV
Germline

Chr13:36819484

Pathogenic/Likely pathogenic

MHC class II deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1313207845

5 SubmittersRCV000686231 RCV002282326

NM_000246.4(CIITA):c.931A>G (p.Met311Val)

SNV
Germline

Chr16:10903889

Conflicting classifications of pathogenicity

MHC class II deficiency
Rheumatoid arthritis
MHC class II deficiency
CIITA-related disorder

Criteria Provided
Conflicting Classifications

rs_140139362

4 SubmittersRCV000767937 RCV003224398 RCV003413555

NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter)

SNV
Germline

Chr19:19197620

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_778357787

2 SubmittersRCV000779255

NM_003721.4(RFXANK):c.558T>A (p.Tyr186Ter)

SNV
Germline

Chr19:19198226

Pathogenic/Likely pathogenic

Condition: not provided
MHC class II deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1599784374

2 SubmittersRCV000788774 RCV001261595

NM_003721.4(RFXANK):c.338-13C>G

SNV
Germline

Chr19:19197508

Conflicting classifications of pathogenicity

Condition: not provided
MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_749579925

3 SubmittersRCV000788268 RCV001122153

NM_000246.4(CIITA):c.20G>A (p.Arg7His)

SNV
Germline

Chr16:10877350

Conflicting classifications of pathogenicity

MHC class II deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_374703179

3 SubmittersRCV000819315 RCV002535500

NM_000246.4(CIITA):c.922C>T (p.Arg308Ter)

SNV
Germline

Chr16:10903880

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_567218474

1 SubmittersRCV000822644

NM_000246.4(CIITA):c.3175G>A (p.Val1059Met)

SNV
Germline

Chr16:10922192

Conflicting classifications of pathogenicity

MHC class II deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200742204

3 SubmittersRCV000802560 RCV002534715

NM_001025603.2(RFX5):c.556-2A>G

SNV
Germline

Chr1:151343884

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_1571260171

1 SubmittersRCV000818355

NM_000246.4(CIITA):c.460G>A (p.Asp154Asn)

SNV
Germline

Chr16:10901537

Conflicting classifications of pathogenicity

MHC class II deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_76923280

4 SubmittersRCV000971865 RCV002292597

NM_000246.4(CIITA):c.1461C>G (p.Ile487Met)

SNV
Germline

Chr16:10906953

Conflicting classifications of pathogenicity

MHC class II deficiency
CIITA-related disorder

Criteria Provided
Conflicting Classifications

rs_141202424

4 SubmittersRCV000967160 RCV003962837

NM_001025603.2(RFX5):c.1830C>G (p.Asp610Glu)

SNV
Germline

Chr1:151342207

Conflicting classifications of pathogenicity

MHC class II deficiency
not specified

Criteria Provided
Conflicting Classifications

rs_141889707

3 SubmittersRCV000887840 RCV004028368

NM_001025603.2(RFX5):c.233+4G>C

SNV
Germline

Chr1:151345102

Conflicting classifications of pathogenicity

MHC class II deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2233846

5 SubmittersRCV000880746 RCV003411875

NM_001025603.2(RFX5):c.477T>C (p.Tyr159=)

SNV
Germline

Chr1:151344275

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_144353639

2 SubmittersRCV000897538

NM_000246.4(CIITA):c.3357C>T (p.His1119=)

SNV
Germline

Chr16:10923267

Conflicting classifications of pathogenicity

MHC class II deficiency
CIITA-related disorder

Criteria Provided
Conflicting Classifications

rs_754706834

3 SubmittersRCV000912855 RCV003970380

NM_000246.4(CIITA):c.2442C>T (p.His814=)

SNV
Germline

Chr16:10907934

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_746490057

2 SubmittersRCV000933328

NM_000246.4(CIITA):c.3003C>T (p.Asp1001=)

SNV
Germline

Chr16:10916400

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_143497260

3 SubmittersRCV000943673

NM_003721.4(RFXANK):c.501C>A (p.Gly167=)

SNV
Germline

Chr19:19198169

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_145457604

2 SubmittersRCV000944157

NM_003721.4(RFXANK):c.529C>G (p.Leu177Val)

SNV
Germline

Chr19:19198197

Conflicting classifications of pathogenicity

MHC class II deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_151053440

3 SubmittersRCV000943941 RCV003169441

NM_000246.4(CIITA):c.2817-10T>C

SNV
Germline

Chr16:10910178

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_75381106

3 SubmittersRCV000960531

NM_003721.4(RFXANK):c.584T>C (p.Leu195Pro)

SNV
Germline

Chr19:19198676

Likely pathogenic

Inherited Immunodeficiency Diseases
MHC CLASS II DEFICIENCY 2

Criteria Provided
Single Submitter

rs_751386365

2 SubmittersRCV001027618 RCV004576980

NM_000246.4(CIITA):c.2817-8C>G

SNV
Germline

Chr16:10910180

Conflicting classifications of pathogenicity

MHC class II deficiency
Rheumatoid arthritis
MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_775728920

2 SubmittersRCV001027817 RCV001496304

NM_000246.4(CIITA):c.2104G>A (p.Ala702Thr)

SNV
Germline

Chr16:10907596

Conflicting classifications of pathogenicity

MHC class II deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_760410085

2 SubmittersRCV001063893 RCV004030515

NM_003721.4(RFXANK):c.232C>T (p.Arg78Ter)

SNV
Germline

Chr19:19197007

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_779699696

2 SubmittersRCV001051631

NM_003721.4(RFXANK):c.438+5G>A

SNV
Germline

Chr19:19197626

Conflicting classifications of pathogenicity

MHC class II deficiency
MHC CLASS II DEFICIENCY 2

Criteria Provided
Conflicting Classifications

rs_1196984337

4 SubmittersRCV001047583 RCV004576981

NM_000246.4(CIITA):c.2657+1G>A

SNV
Germline

Chr16:10908150

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_2039309312

1 SubmittersRCV001049273

NM_001025603.2(RFX5):c.1797G>A (p.Val599=)

SNV
Germline

Chr1:151342240

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_772352167

2 SubmittersRCV001099487

NM_001025603.2(RFX5):c.807T>G (p.Gly269=)

SNV
Germline

Chr1:151343393

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_147137349

2 SubmittersRCV001096024

NM_001025603.2(RFX5):c.859-15C>T

SNV
Germline

Chr1:151343193

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_377295214

2 SubmittersRCV001096023

NM_001025603.2(RFX5):c.117-13C>T

SNV
Germline

Chr1:151345974

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_371670135

2 SubmittersRCV001097796

NM_000246.4(CIITA):c.-84C>T

SNV
Germline

Chr16:10877247

Conflicting classifications of pathogenicity

MHC class II deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_45519531

2 SubmittersRCV001118586 RCV003405327

NM_000246.4(CIITA):c.366A>T (p.Ile122=)

SNV
Germline

Chr16:10898932

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_535705691

2 SubmittersRCV001120410

NM_000246.4(CIITA):c.948G>A (p.Thr316=)

SNV
Germline

Chr16:10904754

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_369971838

3 SubmittersRCV001116940

NM_000246.4(CIITA):c.1944A>T (p.Ala648=)

SNV
Germline

Chr16:10907436

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_778678693

2 SubmittersRCV001115614

NM_000246.4(CIITA):c.2139G>A (p.Leu713=)

SNV
Germline

Chr16:10907631

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_1319022837

2 SubmittersRCV001117041

NM_000246.4(CIITA):c.2409G>A (p.Ala803=)

SNV
Germline

Chr16:10907901

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_755302593

2 SubmittersRCV001118673

NM_000246.4(CIITA):c.2832G>T (p.Ser944=)

SNV
Germline

Chr16:10910203

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_766538754

2 SubmittersRCV001115704

NM_000246.4(CIITA):c.3012C>T (p.Val1004=)

SNV
Germline

Chr16:10916409

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_751445508

2 SubmittersRCV001117130

NM_000246.4(CIITA):c.3234C>T (p.Asp1078=)

SNV
Germline

Chr16:10922407

Conflicting classifications of pathogenicity

MHC class II deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_201907821

3 SubmittersRCV001118767 RCV004032212

NM_000246.4(CIITA):c.2816+14C>T

SNV
Germline

Chr16:10909201

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_191941806

2 SubmittersRCV001115703

NM_000246.4(CIITA):c.3062+14G>A

SNV
Germline

Chr16:10916473

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_370557976

2 SubmittersRCV001117132

NM_000246.4(CIITA):c.3318-8C>G

SNV
Germline

Chr16:10923220

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_201115726

2 SubmittersRCV001118769

NM_003721.4(RFXANK):c.660C>T (p.Ala220=)

SNV
Germline

Chr19:19199182

Conflicting classifications of pathogenicity

MHC class II deficiency

Criteria Provided
Conflicting Classifications

rs_138423094

2 SubmittersRCV001125897

NM_000246.4(CIITA):c.3062+2T>C

SNV
Germline

Chr16:10916461

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_2039957389

1 SubmittersRCV001204286

NM_000246.4(CIITA):c.1802G>A (p.Arg601Gln)

SNV
Germline

Chr16:10907294

Conflicting classifications of pathogenicity

MHC class II deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_753947354

3 SubmittersRCV001246349 RCV004034861

NM_000246.4(CIITA):c.3197G>A (p.Arg1066His)

SNV
Germline

Chr16:10922214

Conflicting classifications of pathogenicity

MHC class II deficiency
MHC class II deficiency
Rheumatoid arthritis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_142072017

4 SubmittersRCV001247716 RCV002491842 RCV002570358

NM_003721.4(RFXANK):c.713-1G>A

SNV
Germline

Chr19:19201648

Pathogenic/Likely pathogenic

MHC class II deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_2060720733

3 SubmittersRCV001283768

NM_001025603.2(RFX5):c.353+2T>G

SNV
Germline

Chr1:151344726

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_1183832067

1 SubmittersRCV001376181

NM_000246.4(CIITA):c.359-2A>G

SNV
Germline

Chr16:10898923

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_2144414230

2 SubmittersRCV001379544

NM_000246.4(CIITA):c.436+1G>A

SNV
Germline

Chr16:10899003

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_373613022

2 SubmittersRCV001379491

NM_000246.4(CIITA):c.938-2A>G

SNV
Germline

Chr16:10904742

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_2144645392

1 SubmittersRCV001379510

NM_001025603.2(RFX5):c.273T>G (p.Tyr91Ter)

SNV
Germline

Chr1:151344808

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_1650858382

1 SubmittersRCV001385734

NM_000246.4(CIITA):c.36C>A (p.Tyr12Ter)

SNV
Germline

Chr16:10877366

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_367628451

1 SubmittersRCV001390888

NM_000246.4(CIITA):c.1240C>T (p.Arg414Ter)

SNV
Germline

Chr16:10906732

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_2144701260

1 SubmittersRCV001385360

NM_000246.4(CIITA):c.1717C>T (p.Gln573Ter)

SNV
Germline

Chr16:10907209

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_2144718631

1 SubmittersRCV001385767

NM_000246.4(CIITA):c.2014C>T (p.Gln672Ter)

SNV
Germline

Chr16:10907506

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_2144728494

1 SubmittersRCV001386216

NM_003721.4(RFXANK):c.634C>T (p.Arg212Ter)

SNV
Germline

Chr19:19199156

Pathogenic

MHC class II deficiency
MHC CLASS II DEFICIENCY 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_747402973

4 SubmittersRCV001388116 RCV004576989

NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln)

SNV
Germline

Chr16:10907876

Conflicting classifications of pathogenicity

MHC class II deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_553503699

4 SubmittersRCV001511754 RCV002568017

NM_000246.4(CIITA):c.1389T>G (p.Tyr463Ter)

SNV
Germline

Chr16:10906881

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_1306793050

1 SubmittersRCV001919931

NM_000246.4(CIITA):c.3361C>T (p.Gln1121Ter)

SNV
Germline

Chr16:10923271

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_2145173097

1 SubmittersRCV001943314

NM_001025603.2(RFX5):c.1016C>G (p.Ser339Ter)

SNV
Germline

Chr1:151343021

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_992795118

1 SubmittersRCV001991699

NM_000246.4(CIITA):c.2479C>T (p.Gln827Ter)

SNV
Germline

Chr16:10907971

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_2144743127

1 SubmittersRCV001960612

NM_000246.4(CIITA):c.2740A>T (p.Lys914Ter)

SNV
Germline

Chr16:10909111

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_2144769768

1 SubmittersRCV001921092

NM_000246.4(CIITA):c.199+1G>A

SNV
Germline

Chr16:10895429

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_777089127

1 SubmittersRCV002019262

NM_003721.4(RFXANK):c.532G>T (p.Glu178Ter)

SNV
Germline

Chr19:19198200

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_2146493181

1 SubmittersRCV001944477

NM_001025603.2(RFX5):c.880C>T (p.Arg294Ter)

SNV
Germline

Chr1:151343157

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_1196551559

1 SubmittersRCV001959732

NM_001025603.2(RFX5):c.474-2A>G

SNV
Germline

Chr1:151344280

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_2102065180

1 SubmittersRCV002045058

NM_003721.4(RFXANK):c.82G>A (p.Gly28Arg)

SNV
Germline

Chr19:19194028

Conflicting classifications of pathogenicity

MHC class II deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_559367724

2 SubmittersRCV001921746 RCV004044235

NM_000246.4(CIITA):c.682C>T (p.Gln228Ter)

SNV
Germline

Chr16:10902711

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_2144582937

1 SubmittersRCV001956226

NM_001025603.2(RFX5):c.445C>T (p.Arg149Ter)

SNV
Germline

Chr1:151344445

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_1489967497

1 SubmittersRCV001930685

NM_000246.4(CIITA):c.2889-1G>T

SNV
Germline

Chr16:10915569

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_748505119

1 SubmittersRCV001992300

NM_001025603.2(RFX5):c.555+1G>C

SNV
Germline

Chr1:151344196

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

rs_367771361

1 SubmittersRCV002238570

NM_001025603.2(RFX5):c.859-2A>G

SNV
Germline

Chr1:151343180

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002308617

NM_001025603.2(RFX5):c.715C>T (p.Arg239Ter)

SNV
Germline

Chr1:151343723

Pathogenic

MHC class II deficiency
MHC CLASS II DEFICIENCY 3

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003074905 RCV004565683

NM_000246.4(CIITA):c.1423C>T (p.Gln475Ter)

SNV
Germline

Chr16:10906915

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002615300

NM_000246.4(CIITA):c.376G>T (p.Glu126Ter)

SNV
Germline

Chr16:10898942

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002593156

NM_000246.4(CIITA):c.772+1G>T

SNV
Germline

Chr16:10902802

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002740213

NM_000246.4(CIITA):c.1099C>T (p.Gln367Ter)

SNV
Germline

Chr16:10906591

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002810229

NM_000246.4(CIITA):c.1615C>T (p.Arg539Ter)

SNV
Germline

Chr16:10907107

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002842596

NM_000246.4(CIITA):c.481+1G>A

SNV
Germline

Chr16:10901559

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002858358

NM_001025603.2(RFX5):c.151-1G>T

SNV
Germline

Chr1:151345189

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002881149

NM_000246.4(CIITA):c.937+2T>C

SNV
Germline

Chr16:10903897

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002908989

NM_000246.4(CIITA):c.532G>A (p.Asp178Asn)

SNV
Germline

Chr16:10902088

Conflicting classifications of pathogenicity

MHC class II deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002927467 RCV004066313

NM_001025603.2(RFX5):c.757+1G>A

SNV
Germline

Chr1:151343680

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003031560

NM_000246.4(CIITA):c.2466G>A (p.Trp822Ter)

SNV
Germline

Chr16:10907958

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003019424

NM_001025603.2(RFX5):c.233+1G>T

SNV
Germline

Chr1:151345105

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003155824

NM_003721.4(RFXANK):c.564+2T>C

SNV
Germline

Chr19:19198234

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003226887

NM_001025603.2(RFX5):c.117-1G>T

SNV
Germline

Chr1:151345962

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003479550

NM_000246.4(CIITA):c.2698C>T (p.Gln900Ter)

SNV
Germline

Chr16:10909069

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003486310

NM_000246.4(CIITA):c.482-1G>C

SNV
Germline

Chr16:10902037

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003524086

NM_001025603.2(RFX5):c.809T>G (p.Leu270Ter)

SNV
Germline

Chr1:151343391

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003524116

NM_000246.4(CIITA):c.436+1G>C

SNV
Germline

Chr16:10899003

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003524161

NM_000538.4(RFXAP):c.429C>G (p.Tyr143Ter)

SNV
Germline

Chr13:36819786

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003524233

NM_000246.4(CIITA):c.2250G>A (p.Trp750Ter)

SNV
Germline

Chr16:10907742

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003524235

NM_001025603.2(RFX5):c.961C>T (p.Gln321Ter)

SNV
Germline

Chr1:151343076

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003525261

NM_000246.4(CIITA):c.2064G>A (p.Trp688Ter)

SNV
Germline

Chr16:10907556

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003524549

NM_000246.4(CIITA):c.2163G>A (p.Trp721Ter)

SNV
Germline

Chr16:10907655

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003524785

NM_000246.4(CIITA):c.436+2T>C

SNV
Germline

Chr16:10899004

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003522731

NM_001025603.2(RFX5):c.473+2T>C

SNV
Germline

Chr1:151344415

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003636152

NM_000246.4(CIITA):c.2203C>T (p.Gln735Ter)

SNV
Germline

Chr16:10907695

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003635626

NM_000246.4(CIITA):c.2436C>A (p.Cys812Ter)

SNV
Germline

Chr16:10907928

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003636832

NM_000246.4(CIITA):c.200-1G>C

SNV
Germline

Chr16:10895668

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003637621

NM_001025603.2(RFX5):c.1408C>T (p.Arg470Ter)

SNV
Germline

Chr1:151342629

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003840150

NM_001025603.2(RFX5):c.1499G>A (p.Trp500Ter)

SNV
Germline

Chr1:151342538

Pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003853665

NM_000538.4(RFXAP):c.287C>A (p.Ser96Ter)

SNV
Germline

Chr13:36819644

Likely pathogenic

MHC class II deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003990853

NM_000538.4(RFXAP):c.219C>G (p.Tyr73Ter)

SNV
Germline

Chr13:36819576

Pathogenic

MHC CLASS II DEFICIENCY 4

No Assertion Criteria Provided

1 SubmittersRCV004577051