BLS2
MCID: BRL012
MIFTS: 61

Bare Lymphocyte Syndrome, Type Ii (BLS2)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Bare Lymphocyte Syndrome, Type Ii

MalaCards integrated aliases for Bare Lymphocyte Syndrome, Type Ii:

Name: Bare Lymphocyte Syndrome, Type Ii 58
Bare Lymphocyte Syndrome 2 77 54 76 30 6 74
Bare Lymphocyte Syndrome 58 77 54 56 74
Mhc Class Ii Deficiency 12 26 6 15
Bare Lymphocyte Syndrome, Type Ii, Complementation Group C 58 30 6
Bare Lymphocyte Syndrome, Type Ii, Complementation Group D 58 30 6
Severe Combined Immunodeficiency, Hla Class Ii-Negative 58 54 26
Major Histocompatibility Complex Class Ii Deficiency 26 76 74
Bare Lymphocyte Syndrome Type Ii 12 26 76
Bare Lymphocyte Syndrome Type 2 54 26 60
Bare Lymphocyte Syndrome, Type Ii, Complementation Group a 58 13
Bare Lymphocyte Syndrome, Type Ii, Complementation Group B 30 6
Bare Lymphocyte Syndrome Type 2, Complementation Group a 30 6
Bare Lymphocyte Syndrome Type 2, Complementation Group E 30 6
Scid Due to Absent Class Ii Hla Antigens 12 41
Severe Combined Immunodeficiency 45 74
Scid, Hla Class Ii-Negative 58 26
Scid, Hla Class 2-Negative 54 26
Hla Class 1 Deficiency 54 74
Bls Type Ii 26 76
Severe Combined Immunodeficiency Due to Absent Class Ii Human Leukocyte Antigens 26
Major Histocompatibility Complex Class Ii Expression Deficiency 60
Bare Lymphocyte Syndrome, Type Ii, Complementation Group E 58
Bare Lymphocyte Syndrome Type Ii Complementation Group a 76
Bare Lymphocyte Syndrome Type Ii Complementation Group B 76
Bare Lymphocyte Syndrome Type Ii Complementation Group C 76
Bare Lymphocyte Syndrome Type Ii Complementation Group D 76
Bare Lymphocyte Syndrome Type Ii Complementation Group E 76
Immunodeficiency by Defective Expression of Hla Class 2 60
Severe Combined Immunodeficiency Hla Class Ii-Negative 76
Hla Class 2-Negative Severe Combined Immunodeficiency 60
Mhc Class Ii Deficiency, Complementation Group B 58
Hla Class Ii Deficient Combined Immunodeficiency 76
Scid Due to Absence of Class Ii Hla Antigens 26
Mhc Class Ii Expression Deficiency 60
Hereditary Mhc Class Ii Deficiency 76
Bare Lymphocyte Syndrome; Bls 58
Scid Hla Class Ii-Negative 76
Hla Class 2-Negative Scid 60
Mhc-Ii Deficiency 76
Bls, Type Ii 58
Bls Type 1 54
Bls Ii 76
Blsii 12
Bls 2 54
Bls2 76
Bls 58

Characteristics:

Orphanet epidemiological data:

60
immunodeficiency by defective expression of hla class 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
majority of children die between 6 months and 5 yrs


HPO:

33
bare lymphocyte syndrome, type ii:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Bare Lymphocyte Syndrome, Type Ii

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 572Disease definitionImmunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.Visit the Orphanet disease page for more resources.

MalaCards based summary : Bare Lymphocyte Syndrome, Type Ii, also known as bare lymphocyte syndrome 2, is related to bare lymphocyte syndrome, type i and immunodeficiency 17. An important gene associated with Bare Lymphocyte Syndrome, Type Ii is RFXANK (Regulatory Factor X Associated Ankyrin Containing Protein), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Hydroxyurea and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and prostate, and related phenotypes are failure to thrive and neutropenia

Genetics Home Reference : 26 Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). People with BLS II lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.

UniProtKB/Swiss-Prot : 76 Bare lymphocyte syndrome 2: A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon- gamma induced MHC II expression, absence of cellular and humoral T- cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.

Wikipedia : 77 Bare lymphocyte syndrome type II (BLS II) is a rare recessive genetic condition in which a group of... more...

Description from OMIM: 209920

Related Diseases for Bare Lymphocyte Syndrome, Type Ii

Diseases in the Bare Lymphocyte Syndrome, Type Ii family:

Bare Lymphocyte Syndrome, Type I

Diseases related to Bare Lymphocyte Syndrome, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 337, show less)
# Related Disease Score Top Affiliating Genes
1 bare lymphocyte syndrome, type i 34.0 RFX5 RFXANK RFXAP TAP2
2 immunodeficiency 17 32.0 CARD9 DOCK8
3 severe combined immunodeficiency 29.9 CIITA RFX5 RFXANK RFXAP
4 combined t cell and b cell immunodeficiency 29.8 CIITA DOCK8 RFX5 RFXAP
5 rubella 29.4 HLA-A TRIM22
6 severe combined immunodeficiency, x-linked 13.0
7 severe combined immunodeficiency with sensitivity to ionizing radiation 13.0
8 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 13.0
9 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 12.9
10 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 12.8
11 severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 12.7
12 short-limb skeletal dysplasia with severe combined immunodeficiency 12.7
13 jak3-deficient severe combined immunodeficiency 12.6
14 zap70-related severe combined immunodeficiency 12.6
15 severe combined immunodeficiency, atypical 12.5
16 t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta 12.4
17 severe combined immunodeficiency due to ikk2 deficiency 12.4
18 reticular dysgenesis 12.4
19 adenosine deaminase deficiency 12.3
20 burkitt lymphoma 12.3
21 severe combined immunodeficiency due to cd70 deficiency 12.3
22 immunodeficiency 18 12.2
23 omenn syndrome 12.1
24 immunodeficiency 19 12.1
25 immunodeficiency 49 12.0
26 immunodeficiency 52 12.0
27 immunodeficiency 26 with or without neurologic abnormalities 12.0
28 immunodeficiency by defective expression of hla class 1 11.9
29 immunodeficiency 8 11.9
30 immunodeficiency 11 11.8
31 immunodeficiency 22 11.8
32 immunodeficiency 24 11.6
33 lig4 syndrome 11.6
34 zap-70 deficiency 11.6
35 immunodeficiency 9 11.6
36 janus kinase-3 deficiency 11.5
37 t-cell immunodeficiency, congenital alopecia, and nail dystrophy 11.5
38 bloom syndrome 11.4
39 coronin-1a deficiency 11.3
40 blind loop syndrome 11.3
41 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 11.1
42 gastrointestinal defects and immunodeficiency syndrome 11.0
43 immunoskeletal dysplasia with neurodevelopmental abnormalities 11.0
44 cd3zeta deficiency 11.0
45 recombinase activating gene 1 deficiency 11.0
46 recombinase activating gene 2 deficiency 11.0
47 cd45 deficiency 11.0
48 interleukin-7 receptor alpha deficiency 11.0
49 lymphoma 10.6
50 combined cellular and humoral immune defects with granulomas 10.4
51 hyper-ige recurrent infection syndrome 2, autosomal recessive 10.4
52 immunodeficiency 41 with lymphoproliferation and autoimmunity 10.4
53 hematopoietic stem cell transplantation 10.4
54 acrocallosal syndrome 10.3
55 graft-versus-host disease 10.3
56 lymphosarcoma 10.3
57 spindle cell hemangioma 10.3
58 cytomegalovirus infection 10.2
59 lymphopenia 10.2
60 lung cancer 10.2
61 lymphocytic choriomeningitis 10.1
62 autoimmune disease 10.1
63 diffuse large b-cell lymphoma 10.1
64 leukemia 10.1
65 endophthalmitis 10.1
66 myeloma, multiple 10.1
67 herpes simplex 10.1
68 prostate cancer 10.0
69 digeorge syndrome 10.0
70 hepatitis 10.0
71 cryptosporidiosis 10.0
72 rheumatoid arthritis 10.0
73 human immunodeficiency virus type 1 10.0
74 nevus comedonicus 10.0
75 arthritis 10.0
76 familial adenomatous polyposis 10.0
77 lepromatous leprosy 10.0
78 spondyloenchondrodysplasia 10.0
79 ovarian cancer 10.0
80 small cell cancer of the lung 10.0
81 myasthenia gravis 10.0
82 prostate cancer, hereditary, 8 10.0
83 prostate cancer, hereditary, 6 10.0
84 chlamydia 10.0
85 graves' disease 10.0
86 melanoma 10.0
87 agammaglobulinemia 10.0
88 adenocarcinoma 10.0
89 t-cell leukemia 10.0
90 thyroiditis 10.0
91 myocarditis 10.0
92 acute graft versus host disease 10.0
93 myasthenia gravis congenital 10.0
94 spondylocarpotarsal synostosis syndrome 9.9
95 hypoglycemia 9.9
96 agammaglobulinemia, x-linked 9.9
97 aplastic anemia 9.9
98 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 9.9
99 neutropenia 9.9
100 colitis 9.9
101 lymphoproliferative syndrome 9.9
102 pneumocystosis 9.9
103 listeriosis 9.9
104 lyme disease 9.9
105 candidiasis 9.9
106 retinitis 9.9
107 myeloid leukemia 9.9
108 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9
109 panbronchiolitis, diffuse 9.9
110 squamous cell carcinoma 9.9
111 pneumonia 9.9
112 histoplasmosis 9.9 HLA-A HLA-DQA1
113 keshan disease 9.9 HLA-DQA1 HLA-DRA
114 dermatitis herpetiformis 9.9 HLA-A HLA-DQA1
115 hepatocellular carcinoma 9.8
116 cardiac conduction defect 9.8
117 popliteal pterygium syndrome 9.8
118 multiple sclerosis 9.8
119 lichen sclerosus et atrophicus 9.8
120 osteoporosis 9.8
121 premature chromatid separation trait 9.8
122 retinoblastoma 9.8
123 tetralogy of fallot 9.8
124 salla disease 9.8
125 welander distal myopathy 9.8
126 tropical calcific pancreatitis 9.8
127 leukemia, acute lymphoblastic 9.8
128 membranous nephropathy 9.8
129 congestive heart failure 9.8
130 glomerulonephritis 9.8
131 lymphoid leukemia 9.8
132 spinal stenosis 9.8
133 thrombocytopenia 9.8
134 cardiac arrest 9.8
135 post-cardiac arrest syndrome 9.8
136 borderline leprosy 9.8
137 lymphocytic leukemia 9.8
138 japanese encephalitis 9.8
139 functional diarrhea 9.8
140 epidural abscess 9.8
141 bronchial disease 9.8
142 diarrhea 9.8
143 epicondylitis 9.8
144 dermatomycosis 9.8
145 secondary syphilis 9.8
146 syphilis 9.8
147 bronchitis 9.8
148 hepatoblastoma 9.8
149 extrinsic allergic alveolitis 9.8
150 amyloidosis 9.8
151 fasciitis 9.8
152 plantar fasciitis 9.8
153 eosinophilia-myalgia syndrome 9.8
154 rere-related disorders 9.8
155 chromosomal triplication 9.8
156 heparin-induced thrombocytopenia 9.8
157 breast cancer 9.8
158 hashimoto thyroiditis 9.8
159 systemic lupus erythematosus 9.8
160 anemia, autoimmune hemolytic 9.8
161 leukemia, acute myeloid 9.8
162 ovarian cancer 1 9.8
163 purine nucleoside phosphorylase deficiency 9.8
164 gastric cancer 9.8
165 acute leukemia 9.8
166 acute lymphocytic leukemia 9.8
167 adult t-cell leukemia 9.8
168 b-cell lymphomas 9.8
169 chronic granulomatous disease 9.8
170 hemolytic anemia 9.8
171 hemophagocytic lymphohistiocytosis 9.8
172 pancreatic ductal adenocarcinoma 9.8
173 autoimmune cardiomyopathy 9.8
174 inflammatory bowel disease 9.8
175 osteomyelitis 9.8
176 mumps 9.8
177 cryptococcosis 9.8
178 pancytopenia 9.8
179 endometriosis 9.8
180 plasmacytoma 9.8
181 mouth disease 9.8
182 leiomyomatosis 9.8
183 human immunodeficiency virus infectious disease 9.8
184 acute t cell leukemia 9.8
185 intravenous leiomyomatosis 9.8
186 hypersplenism 9.8
187 influenza 9.8
188 meningitis 9.8
189 irritable bowel syndrome 9.8
190 encephalopathy 9.8
191 vogt-koyanagi-harada disease 9.8 HLA-A HLA-DQA1
192 chromoblastomycosis 9.8 CARD9 HLA-A
193 idiopathic bronchiectasis 9.7 HLA-A HLA-DQA1 TAP2
194 aplasia cutis congenita, nonsyndromic 9.7
195 gastroesophageal reflux 9.7
196 leukemia, chronic lymphocytic 2 9.7
197 biliary cirrhosis, primary, 1 9.7
198 diabetes insipidus, nephrogenic, autosomal 9.7
199 attention deficit-hyperactivity disorder 9.7
200 renal cell carcinoma, nonpapillary 9.7
201 leiomyoma, uterine 9.7
202 leukemia, acute monocytic 9.7
203 leukemia, chronic lymphocytic 9.7
204 medulloblastoma 9.7
205 otofaciocervical syndrome 1 9.7
206 pemphigus vulgaris, familial 9.7
207 pulmonary fibrosis, idiopathic 9.7
208 down syndrome 9.7
209 kyphomelic dysplasia 9.7
210 charge syndrome 9.7
211 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.7
212 immunoerythromyeloid hypoplasia 9.7
213 lymphokine deficiency 9.7
214 cartilage-hair hypoplasia 9.7
215 biotinidase deficiency 9.7
216 myelofibrosis 9.7
217 pancreatic cancer 9.7
218 wiskott-aldrich syndrome 9.7
219 dyskeratosis congenita, x-linked 9.7
220 immunodeficiency with hyper-igm, type 1 9.7
221 prostatic hyperplasia, benign 9.7
222 asthma 9.7
223 wilms tumor 5 9.7
224 alpha-thalassemia 9.7
225 langerhans cell histiocytosis 9.7
226 juvenile myelomonocytic leukemia 9.7
227 dermatofibrosarcoma protuberans 9.7
228 leukemia, chronic myeloid 9.7
229 ichthyosis prematurity syndrome 9.7
230 malaria 9.7
231 lung cancer susceptibility 3 9.7
232 myelodysplastic syndrome 9.7
233 wilms tumor 6 9.7
234 west syndrome 9.7
235 peyronie's disease 9.7
236 pulmonary hypertension 9.7
237 acute lymphoblastic leukemia, childhood 9.7
238 adult acute lymphocytic leukemia 9.7
239 alopecia 9.7
240 anaplastic large cell lymphoma 9.7
241 brain injury 9.7
242 common variable immunodeficiency 9.7
243 diabetes mellitus 9.7
244 dilated cardiomyopathy 9.7
245 follicular lymphoma 9.7
246 hepatitis b 9.7
247 mantle cell lymphoma 9.7
248 pemphigus vulgaris 9.7
249 pol iii-related leukodystrophies 9.7
250 primary biliary cirrhosis 9.7
251 pulmonary fibrosis 9.7
252 spinal muscular atrophy 9.7
253 thalassemia 9.7
254 paralytic poliomyelitis 9.7
255 oral squamous cell carcinoma 9.7
256 thrombosis 9.7
257 childhood acute myeloid leukemia 9.7
258 bone disease 9.7
259 cytomegalovirus retinitis 9.7
260 cysticercosis 9.7
261 thymus lymphoma 9.7
262 legionnaires' disease 9.7
263 intestinal atresia 9.7
264 meningoencephalitis 9.7
265 rickets 9.7
266 fanconi syndrome 9.7
267 q fever 9.7
268 sarcoma 9.7
269 t cell deficiency 9.7
270 tetanus 9.7
271 allergic hypersensitivity disease 9.7
272 optic neuritis 9.7
273 alveolar echinococcosis 9.7
274 leiomyoma 9.7
275 central nervous system leukemia 9.7
276 pure red-cell aplasia 9.7
277 hypothyroidism 9.7
278 echinococcosis 9.7
279 keratosis 9.7
280 pneumothorax 9.7
281 thyroid cancer 9.7
282 neuritis 9.7
283 dyskeratosis congenita 9.7
284 bilirubin metabolic disorder 9.7
285 prostatic adenoma 9.7
286 cystadenocarcinoma 9.7
287 vaccinia 9.7
288 teratocarcinoma 9.7
289 embryonal carcinoma 9.7
290 central nervous system disease 9.7
291 fibrosarcoma 9.7
292 histiocytosis 9.7
293 ovarian cystadenocarcinoma 9.7
294 pyoderma 9.7
295 microsporidiosis 9.7
296 poliomyelitis 9.7
297 urinary tract obstruction 9.7
298 cerebral lymphoma 9.7
299 progressive multifocal leukoencephalopathy 9.7
300 subacute thyroiditis 9.7
301 muscular atrophy 9.7
302 childhood leukemia 9.7
303 hyperthyroidism 9.7
304 lung disease 9.7
305 monocytic leukemia 9.7
306 pyoderma gangrenosum 9.7
307 nervous system disease 9.7
308 chickenpox 9.7
309 lupus erythematosus 9.7
310 actinic keratosis 9.7
311 chorioretinitis 9.7
312 psoriasis 9.7
313 dermatophytosis 9.7
314 pemphigus 9.7
315 diabetes insipidus 9.7
316 encephalitis 9.7
317 noma 9.7
318 miliary tuberculosis 9.7
319 toxoplasmosis 9.7
320 hypereosinophilic syndrome 9.7
321 microcephaly 9.7
322 acute monoblastic leukemia 9.7
323 autoimmune myocarditis 9.7
324 bowenoid papulosis 9.7
325 cerebellar degeneration 9.7
326 congenital cytomegalovirus 9.7
327 glioma 9.7
328 leukemia, b-cell, chronic 9.7
329 lymphoma aids related 9.7
330 lymphomatous thyroiditis 9.7
331 malakoplakia 9.7
332 mycobacterium marinum 9.7
333 paraneoplastic cerebellar degeneration 9.7
334 plasmablastic lymphoma 9.7
335 primary biliary cholangitis 9.7
336 primary effusion lymphoma 9.7
337 takayasu arteritis 9.7 HLA-A HLA-DQA1

Graphical network of the top 20 diseases related to Bare Lymphocyte Syndrome, Type Ii:



Diseases related to Bare Lymphocyte Syndrome, Type Ii

Symptoms & Phenotypes for Bare Lymphocyte Syndrome, Type Ii

Human phenotypes related to Bare Lymphocyte Syndrome, Type Ii:

60 33 (showing 50, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 Frequent (79-30%) HP:0001508
2 neutropenia 60 33 Occasional (29-5%) HP:0001875
3 recurrent bacterial infections 60 33 Frequent (79-30%) HP:0002718
4 chronic mucocutaneous candidiasis 60 33 Frequent (79-30%) HP:0002728
5 recurrent viral infections 60 33 Frequent (79-30%) HP:0004429
6 recurrent fungal infections 60 33 Frequent (79-30%) HP:0002841
7 panhypogammaglobulinemia 60 33 Occasional (29-5%) HP:0003139
8 protracted diarrhea 60 33 Frequent (79-30%) HP:0004385
9 recurrent protozoan infections 60 33 Frequent (79-30%) HP:0005386
10 dysarthria 60 Very rare (<4-1%)
11 encephalitis 33 HP:0002383
12 recurrent respiratory infections 60 Very frequent (99-80%)
13 abnormal facial shape 60 Very rare (<4-1%)
14 malabsorption 33 HP:0002024
15 pancytopenia 60 Occasional (29-5%)
16 sinusitis 60 Frequent (79-30%)
17 recurrent upper respiratory tract infections 33 HP:0002788
18 autoimmunity 60 Occasional (29-5%)
19 gait ataxia 60 Very rare (<4-1%)
20 decreased antibody level in blood 60 Frequent (79-30%)
21 diarrhea 60 Frequent (79-30%)
22 skin rash 60 Occasional (29-5%)
23 agammaglobulinemia 33 HP:0004432
24 recurrent urinary tract infections 33 HP:0000010
25 decreased proportion of cd4-positive t cells 60 Frequent (79-30%)
26 decreased lymphocyte proliferation in response to mitogen 60 Occasional (29-5%)
27 recurrent herpes 60 Frequent (79-30%)
28 decrease in t cell count 60 Occasional (29-5%)
29 recurrent infection of the gastrointestinal tract 60 Very frequent (99-80%)
30 rhinitis 60 Frequent (79-30%)
31 autoimmune hemolytic anemia 60 Occasional (29-5%)
32 autoimmune thrombocytopenia 60 Occasional (29-5%)
33 neutropenia in presence of anti-neutropil antibodies 60 Occasional (29-5%)
34 sclerosing cholangitis 60 Frequent (79-30%)
35 viral hepatitis 33 HP:0006562
36 villous atrophy 33 HP:0011473
37 colitis 33 HP:0002583
38 reduced mhc ii surface expression 60 Obligate (100%)
39 lack of t cell function 60 Very frequent (99-80%)
40 recurrent staphylococcus aureus infections 60 Frequent (79-30%)
41 abnormality of humoral immunity 60 Frequent (79-30%)
42 recurrent candida infections 60 Frequent (79-30%)
43 decreased circulating beta-2-microglobulin level 60 Frequent (79-30%)
44 chronic hepatitis due to cryptosporidium infection 60 Frequent (79-30%)
45 acute otitis media 60 Occasional (29-5%)
46 abnormal cd4:cd8 ratio 60 Occasional (29-5%)
47 cholangitis 33 HP:0030151
48 recurrent lower respiratory tract infections 33 HP:0002783
49 chronic lymphocytic meningitis 33 HP:0007041
50 cutaneous anergy 33 HP:0002965

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Hematology:
neutropenia
severe autoimmune cytopenia

Abdomen Liver:
viral hepatitis
progressive liver disease

Respiratory Airways:
upper respiratory tract infections
lower respiratory tract infections

Skin Nails Hair Skin:
mucocutaneous candidiasis

Laboratory Abnormalities:
normal number of t and b lymphocytes
reduced cd4+ count and proportionally increased cd8+ count
panhypogammaglobulinemia or agammaglobulinemia
absence of delayed hypersensitivity skin test

Abdomen Gastrointestinal:
malabsorption
protracted diarrhea
variable degree of villous atrophy
intraepithelial infiltration by lymphocytes, macrophages, plasma cells
severe colitis

Genitourinary:
recurrent urinary tract infections

Neurologic Central Nervous System:
chronic lymphocytic meningitis
meningoencephalitis
poliomyelitis

Abdomen Biliary Tract:
pseudosclerosing cholangitis
bacterial cholangitis

Immunology:
absence of humoral and cellular immune response to foreign antigens
frequent bacterial, viral, protozoan, and fungal infections
susceptible to vaccine-induced polio

Clinical features from OMIM:

209920

Drugs & Therapeutics for Bare Lymphocyte Syndrome, Type Ii

Drugs for Bare Lymphocyte Syndrome, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 21, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 2 127-07-1 3657
2
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
3
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
4
Fludarabine Approved Phase 2,Not Applicable 75607-67-9, 21679-14-1 30751
5
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
6 Immunosuppressive Agents Phase 2,Not Applicable
7 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
8 Antineoplastic Agents, Immunological Phase 2,Not Applicable
9 Nucleic Acid Synthesis Inhibitors Phase 2
10 Antimetabolites, Antineoplastic Phase 2,Not Applicable
11 Antimetabolites Phase 2,Not Applicable
12 Immunologic Factors Phase 2,Not Applicable
13 Alkylating Agents Phase 2,Not Applicable
14
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
15
Vidarabine Approved, Investigational Not Applicable 24356-66-9 21704 32326
16
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
17
Mesna Approved, Investigational Not Applicable 3375-50-6 598
18 Anti-Infective Agents Not Applicable
19 Protective Agents Not Applicable
20 Antirheumatic Agents Not Applicable
21 Antiviral Agents Not Applicable

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
2 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Not Applicable Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA

Search NIH Clinical Center for Bare Lymphocyte Syndrome, Type Ii

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: severe combined immunodeficiency

Genetic Tests for Bare Lymphocyte Syndrome, Type Ii

Genetic tests related to Bare Lymphocyte Syndrome, Type Ii:

# Genetic test Affiliating Genes
1 Bare Lymphocyte Syndrome 2 30 CIITA RFX5 RFXANK RFXAP
2 Bare Lymphocyte Syndrome Type 2, Complementation Group a 30
3 Bare Lymphocyte Syndrome, Type Ii, Complementation Group D 30
4 Bare Lymphocyte Syndrome, Type Ii, Complementation Group C 30
5 Bare Lymphocyte Syndrome Type 2, Complementation Group E 30
6 Bare Lymphocyte Syndrome, Type Ii, Complementation Group B 30

Anatomical Context for Bare Lymphocyte Syndrome, Type Ii

MalaCards organs/tissues related to Bare Lymphocyte Syndrome, Type Ii:

42
T Cells, B Cells, Prostate, Thyroid, Myeloid, Lung, Skin

Publications for Bare Lymphocyte Syndrome, Type Ii

Articles related to Bare Lymphocyte Syndrome, Type Ii:

(showing 81, show less)
# Title Authors Year
1
Tumor genomic alterations in severe-combined immunodeficiency bare-lymphocyte syndrome genes are associated with high mutational burden and disproportional neo-antigen rates. ( 31064401 )
2019
2
Type II bare lymphocyte syndrome: role of peripheral blood flow cytometry and utility of stem cell transplant in treatment. ( 25354255 )
2015
3
Disseminated Bacillus Calmette-Guérin (BCG) infection following allogeneic hematopoietic stem cell transplant in a patient with Bare Lymphocyte Syndrome type II. ( 24995715 )
2014
4
Newborn screening for severe combined immunodeficiency does not identify bare lymphocyte syndrome. ( 23453137 )
2013
5
Comments on type I bare lymphocyte syndrome. ( 22321372 )
2012
6
Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report. ( 22390233 )
2012
7
Bare lymphocyte syndrome: an opportunity to discover our immune system. ( 22027563 )
2012
8
A novel mutation in the TAP2 gene in bare lymphocyte syndrome: association with metastatic cutaneous squamous cell carcinoma. ( 20083708 )
2010
9
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). 1993. ( 17513710 )
2007
10
Conserved residues of the bare lymphocyte syndrome transcription factor RFXAP determine coordinate MHC class II expression. ( 16337482 )
2006
11
Evolutionary conservation and characterization of the bare lymphocyte syndrome transcription factor RFX-B and its paralogue ANKRA2. ( 15655668 )
2005
12
Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC II. ( 12618906 )
2003
13
Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency. ( 11862382 )
2002
14
A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination. ( 12149238 )
2002
15
Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome. ( 12368908 )
2002
16
Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin. ( 11587107 )
2001
17
The bare lymphocyte syndrome and the regulation of MHC expression. ( 11244040 )
2001
18
Bare lymphocyte syndrome: imaging findings in an adult. ( 11372614 )
2001
19
Effect of IFN-gamma on expression of HLA in bare-lymphocyte syndrome-like cell line HAJ. ( 11814240 )
2001
20
Uncoordinated HLA-D gene expression in a RFXANK-defective patient with MHC class II deficiency. ( 11313409 )
2001
21
Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome. ( 11463838 )
2001
22
MHC class II deficiency: a disease of gene regulation. ( 11704716 )
2001
23
Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B. ( 10803838 )
2000
24
Lessons from the bare lymphocyte syndrome: molecular mechanisms regulating MHC class II expression. ( 11213800 )
2000
25
Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells. ( 10725724 )
2000
26
Molecular genetics of the Bare lymphocyte syndrome. ( 11258423 )
2000
27
Mutations in the bare lymphocyte syndrome define critical steps in the assembly of the regulatory factor X complex. ( 10825209 )
2000
28
Associations and interactions between bare lymphocyte syndrome factors. ( 10938133 )
2000
29
T cell immune reconstitution after allogeneic bone marrow transplantation in bare lymphocyte syndrome. ( 11053633 )
2000
30
Immunodeficiency due to defective antigen processing: the molecular basis for type 1 bare lymphocyte syndrome. ( 10074475 )
1999
31
Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome. ( 10074494 )
1999
32
RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. ( 10072068 )
1999
33
Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene. ( 10079298 )
1999
34
A defect in the nuclear translocation of CIITA causes a form of type II bare lymphocyte syndrome. ( 10072069 )
1999
35
Incomplete T-cell immune reconstitution in two major histocompatibility complex class II-deficiency/bare lymphocyte syndrome patients after HLA-identical sibling bone marrow transplantation. ( 10381532 )
1999
36
The bare lymphocyte syndrome: molecular clues to the transcriptional regulation of major histocompatibility complex class II genes. ( 10417269 )
1999
37
Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP1-deficient patient (bare lymphocyte syndrome type I). ( 9952025 )
1999
38
A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients. ( 9806546 )
1998
39
Activity and phenotype of natural killer cells in peptide transporter (TAP)-deficient patients (type I bare lymphocyte syndrome). ( 9419217 )
1998
40
Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A. ( 9099848 )
1997
41
RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. ( 9118943 )
1997
42
Specific complex formation between the type II bare lymphocyte syndrome-associated transactivators CIITA and RFX5. ( 9177217 )
1997
43
Transactivation by CIITA, the type II bare lymphocyte syndrome-associated factor, requires participation of multiple regions of the TATA box binding protein. ( 9177216 )
1997
44
Correction of defective expression in MHC class II deficiency (bare lymphocyte syndrome) cells by retroviral transduction of CIITA. ( 9233601 )
1997
45
Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency. ( 9287230 )
1997
46
The case of the bare lymphocyte syndrome--tracking down faulty transcription factors. ( 9287236 )
1997
47
Regulatory factor X, a bare lymphocyte syndrome transcription factor, is a multimeric phosphoprotein complex. ( 9190936 )
1997
48
Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency. ( 9401005 )
1997
49
Type III bare lymphocyte syndrome: lack of HLA class II gene expression and reduction in HLA class I gene expression. ( 8952882 )
1996
50
Purified X2 binding protein (X2BP) cooperatively binds the class II MHC X box region in the presence of purified RFX, the X box factor deficient in the bare lymphocyte syndrome. ( 7594590 )
1995
51
Bare lymphocyte syndrome with lack of HLA class I and II antigens. Presentation of two cases. ( 7597764 )
1995
52
Deficient antigen-presenting cell function in multiple genetic complementation groups of type II bare lymphocyte syndrome. ( 7615790 )
1995
53
A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). ( 7744245 )
1995
54
Molecular defects in the bare lymphocyte syndrome and regulation of MHC class II genes. ( 7495492 )
1995
55
Two complementation groups account for most cases of inherited MHC class II deficiency. ( 7951244 )
1994
56
Coordinate defects in human histocompatibility leukocyte antigen class II expression and antigen presentation in bare lymphocyte syndrome. ( 8195723 )
1994
57
Analysis of MHC class II transcription in two type III bare lymphocyte syndrome patients of a single family. ( 8167718 )
1993
58
Lymphokine gene transcription in CD4+CD8- T cells of a type III bare lymphocyte syndrome patient. ( 8244777 )
1993
59
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). ( 8402893 )
1993
60
The bare lymphocyte syndrome. ( 1504670 )
1992
61
TCR V alpha- and V beta-gene segment use in T-cell subcultures derived from a type-III bare lymphocyte syndrome patient deficient in MHC class-II expression. ( 1320968 )
1992
62
Differential inducibility of HLA class I and II antigens by r-IFN gamma in type III bare lymphocyte syndrome. ( 1899309 )
1991
63
In vivo footprinting of MHC class II genes: bare promoters in the bare lymphocyte syndrome. ( 1902592 )
1991
64
Bare lymphocyte syndrome--combined immunodeficiency and neutrophil dysfunction. ( 2209663 )
1990
65
Activation of CD8+ T cells by allogeneic class II-deficient B-cell lines derived from patients with bare lymphocyte syndrome. ( 2142838 )
1990
66
Successful treatment with an unrelated-donor bone marrow transplant in an HLA-deficient patient with severe combined immune deficiency ("bare lymphocyte syndrome"). ( 2299498 )
1990
67
In-utero transplantation of stem cells in bare lymphocyte syndrome. ( 2567387 )
1989
68
Bare lymphocyte syndrome: altered HLA class II expression in B cell lines derived from two patients. ( 2785516 )
1989
69
Bare lymphocyte syndrome. Consequences of absent class II major histocompatibility antigen expression for B lymphocyte differentiation and function. ( 3257764 )
1988
70
Immunohistochemical studies of major histocompatibility antigens in a case of the bare lymphocyte syndrome without immunodeficiency. ( 3680679 )
1987
71
Multiple and persistent viral infections in a patient with bare lymphocyte syndrome. ( 2821129 )
1987
72
Hypertrophic osteoarthropathy in a young child with cytomegalovirus pneumonia and the bare lymphocyte syndrome. ( 3010222 )
1986
73
Progressive sinobronchiectasis associated with the "bare lymphocyte syndrome" in an adult. ( 3512189 )
1986
74
The thymus in "bare lymphocyte" syndrome. ( 2413736 )
1985
75
The thymus in "bare lymphocyte" syndrome: significance of expression of major histocompatibility complex antigens on thymic epithelial cells in intrathymic T-cell maturation. ( 3874194 )
1985
76
Molecular analysis of the bare lymphocyte syndrome. ( 3894422 )
1985
77
Placental diagnosis of the "bare lymphocyte" syndrome. ( 4033703 )
1985
78
The bare lymphocyte syndrome: immunodeficiency resulting from the lack of expression of HLA antigens. ( 6606451 )
1983
79
The bare-lymphocyte syndrome: report on the registry. ( 6162064 )
1981
80
Immunodeficiency diseases and expression of HLA antigens. ( 7021490 )
1981
81
Combined immunodeficiency disease associated with absence of cell-surface HLA-A and -B antigens. ( 650344 )
1978

Variations for Bare Lymphocyte Syndrome, Type Ii

UniProtKB/Swiss-Prot genetic disease variations for Bare Lymphocyte Syndrome, Type Ii:

76 (showing 4, show less)
# Symbol AA change Variation ID SNP ID
1 CIITA p.Leu469Pro VAR_015551
2 CIITA p.Phe962Ser VAR_015553
3 RFX5 p.Arg149Gln VAR_015550 rs137853099
4 RFXANK p.Leu195Pro VAR_009941 rs751386365

ClinVar genetic disease variations for Bare Lymphocyte Syndrome, Type Ii:

6 (showing 540, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 RFXANK RFXANK, 26-BP DEL, NT752 deletion Pathogenic
2 RFXANK RFXANK, 58-BP DEL deletion Pathogenic
3 RFXANK RFXANK, IVS4DS, G-C, +1 single nucleotide variant Pathogenic
4 RFXANK NM_003721.3(RFXANK): c.362A> T (p.Asp121Val) single nucleotide variant Pathogenic rs104894709 GRCh37 Chromosome 19, 19308354: 19308354
5 RFXANK NM_003721.3(RFXANK): c.362A> T (p.Asp121Val) single nucleotide variant Pathogenic rs104894709 GRCh38 Chromosome 19, 19197545: 19197545
6 RFX5 RFX5, IVS2DS, G-A, +5 single nucleotide variant Pathogenic
7 RFX5 NM_000449.3(RFX5): c.1032C> T (p.Ile344=) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 151343005: 151343005
8 RFX5 NM_000449.3(RFX5): c.1032C> T (p.Ile344=) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 151315481: 151315481
9 RFX5 NM_000449.3(RFX5): c.234-1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 1, 151317324: 151317324
10 RFX5 NM_000449.3(RFX5): c.234-1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 1, 151344848: 151344848
11 RFX5 RFX5, 4-BP DEL, IVS-AS, G-A, -1 deletion Pathogenic
12 RFX5 NM_000449.3(RFX5): c.446G> A (p.Arg149Gln) single nucleotide variant Uncertain significance rs137853099 GRCh37 Chromosome 1, 151316920: 151316920
13 RFX5 NM_000449.3(RFX5): c.446G> A (p.Arg149Gln) single nucleotide variant Uncertain significance rs137853099 GRCh38 Chromosome 1, 151344444: 151344444
14 RFXAP RFXAP, 1-BP INS, 413G insertion Pathogenic
15 RFXAP RFXAP, 1-BP INS, 505G insertion Pathogenic
16 RFXAP RFXAP, 1-BP DEL, 484G deletion Pathogenic
17 RFXAP NM_000538.3(RFXAP): c.163C> T (p.Gln55Ter) single nucleotide variant Pathogenic rs137853098 GRCh37 Chromosome 13, 37393657: 37393657
18 RFXAP NM_000538.3(RFXAP): c.163C> T (p.Gln55Ter) single nucleotide variant Pathogenic rs137853098 GRCh38 Chromosome 13, 36819520: 36819520
19 CIITA MHC2TA, IVS13DS, G-A, +1 deletion Pathogenic
20 CIITA NM_000246.3(CIITA): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs137852602 GRCh37 Chromosome 16, 11000490: 11000490
21 CIITA NM_000246.3(CIITA): c.1141G> T (p.Glu381Ter) single nucleotide variant Pathogenic rs137852602 GRCh38 Chromosome 16, 10906633: 10906633
22 CIITA NM_000246.3(CIITA): c.3234_3317del84 single nucleotide variant Pathogenic rs771073292 GRCh38 Chromosome 16, 10922491: 10922491
23 CIITA NM_000246.3(CIITA): c.3234_3317del84 single nucleotide variant Pathogenic rs771073292 GRCh37 Chromosome 16, 11016348: 11016348
24 CIITA NM_000246.3(CIITA): c.2063G> A (p.Trp688Ter) single nucleotide variant Pathogenic rs863223293 GRCh38 Chromosome 16, 10907555: 10907555
25 CIITA NM_000246.3(CIITA): c.2063G> A (p.Trp688Ter) single nucleotide variant Pathogenic rs863223293 GRCh37 Chromosome 16, 11001412: 11001412
26 CIITA NM_000246.3(CIITA): c.2889_2969del81 (p.Gly965_Leu991del) deletion Pathogenic rs1555507411 GRCh37 Chromosome 16, 11009427: 11009507
27 CIITA NM_000246.3(CIITA): c.2889_2969del81 (p.Gly965_Leu991del) deletion Pathogenic rs1555507411 GRCh38 Chromosome 16, 10915570: 10915650
28 CIITA MHC2TA, 3-BP DEL, 3193CAT deletion Pathogenic
29 RFXANK NM_003721.3(RFXANK): c.706C> T (p.Arg236Trp) single nucleotide variant Uncertain significance rs143964319 GRCh37 Chromosome 19, 19310037: 19310037
30 RFXANK NM_003721.3(RFXANK): c.706C> T (p.Arg236Trp) single nucleotide variant Uncertain significance rs143964319 GRCh38 Chromosome 19, 19199228: 19199228
31 RFXANK NM_003721.3(RFXANK): c.706C> T (p.Arg236Trp) single nucleotide variant Uncertain significance rs143964319 NCBI36 Chromosome 19, 19171037: 19171037
32 CIITA NM_000246.3(CIITA): c.1230G> A (p.Pro410=) single nucleotide variant Uncertain significance rs199476069 GRCh37 Chromosome 16, 11000579: 11000579
33 CIITA NM_000246.3(CIITA): c.1230G> A (p.Pro410=) single nucleotide variant Uncertain significance rs199476069 GRCh38 Chromosome 16, 10906722: 10906722
34 CIITA NM_000246.3(CIITA): c.1684G> A (p.Ala562Thr) single nucleotide variant Uncertain significance rs199476070 GRCh37 Chromosome 16, 11001033: 11001033
35 CIITA NM_000246.3(CIITA): c.1684G> A (p.Ala562Thr) single nucleotide variant Uncertain significance rs199476070 GRCh38 Chromosome 16, 10907176: 10907176
36 CIITA NM_000246.3(CIITA): c.2356C> A (p.Gln786Lys) single nucleotide variant Uncertain significance rs199476072 GRCh37 Chromosome 16, 11001705: 11001705
37 CIITA NM_000246.3(CIITA): c.2356C> A (p.Gln786Lys) single nucleotide variant Uncertain significance rs199476072 GRCh38 Chromosome 16, 10907848: 10907848
38 RFXAP NM_000538.3(RFXAP): c.323T> A (p.Leu108Ter) single nucleotide variant Pathogenic rs754240018 GRCh38 Chromosome 13, 36819680: 36819680
39 RFXAP NM_000538.3(RFXAP): c.323T> A (p.Leu108Ter) single nucleotide variant Pathogenic rs754240018 GRCh37 Chromosome 13, 37393817: 37393817
40 RFXANK NM_003721.3(RFXANK): c.337+4C> T single nucleotide variant Benign/Likely benign rs187331767 GRCh38 Chromosome 19, 19197255: 19197255
41 RFXANK NM_003721.3(RFXANK): c.337+4C> T single nucleotide variant Benign/Likely benign rs187331767 GRCh37 Chromosome 19, 19308064: 19308064
42 RFX5 NM_000449.3(RFX5): c.*1520_*1521insATT insertion Uncertain significance rs529662057 GRCh37 Chromosome 1, 151313141: 151313142
43 RFX5 NM_000449.3(RFX5): c.*1520_*1521insATT insertion Uncertain significance rs529662057 GRCh38 Chromosome 1, 151340665: 151340666
44 RFX5 NM_000449.3(RFX5): c.*1084A> C single nucleotide variant Uncertain significance rs116826799 GRCh37 Chromosome 1, 151313578: 151313578
45 RFX5 NM_000449.3(RFX5): c.*1084A> C single nucleotide variant Uncertain significance rs116826799 GRCh38 Chromosome 1, 151341102: 151341102
46 RFX5 NM_000449.3(RFX5): c.*283A> G single nucleotide variant Benign rs1752387 GRCh38 Chromosome 1, 151341903: 151341903
47 RFX5 NM_000449.3(RFX5): c.*283A> G single nucleotide variant Benign rs1752387 GRCh37 Chromosome 1, 151314379: 151314379
48 RFX5 NM_000449.3(RFX5): c.*244A> G single nucleotide variant Likely benign rs2233857 GRCh38 Chromosome 1, 151341942: 151341942
49 RFX5 NM_000449.3(RFX5): c.*244A> G single nucleotide variant Likely benign rs2233857 GRCh37 Chromosome 1, 151314418: 151314418
50 RFX5 NM_000449.3(RFX5): c.1495C> T (p.Pro499Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2233855 GRCh38 Chromosome 1, 151342542: 151342542
51 RFX5 NM_000449.3(RFX5): c.1495C> T (p.Pro499Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs2233855 GRCh37 Chromosome 1, 151315018: 151315018
52 RFX5 NM_000449.3(RFX5): c.1236A> G (p.Thr412=) single nucleotide variant Uncertain significance rs771403545 GRCh38 Chromosome 1, 151342801: 151342801
53 RFX5 NM_000449.3(RFX5): c.1236A> G (p.Thr412=) single nucleotide variant Uncertain significance rs771403545 GRCh37 Chromosome 1, 151315277: 151315277
54 RFX5 NM_000449.3(RFX5): c.984G> A (p.Arg328=) single nucleotide variant Conflicting interpretations of pathogenicity rs374283593 GRCh38 Chromosome 1, 151343053: 151343053
55 RFX5 NM_000449.3(RFX5): c.984G> A (p.Arg328=) single nucleotide variant Conflicting interpretations of pathogenicity rs374283593 GRCh37 Chromosome 1, 151315529: 151315529
56 RFX5 NM_000449.3(RFX5): c.938C> T (p.Ser313Leu) single nucleotide variant Uncertain significance rs140885618 GRCh38 Chromosome 1, 151343099: 151343099
57 RFX5 NM_000449.3(RFX5): c.938C> T (p.Ser313Leu) single nucleotide variant Uncertain significance rs140885618 GRCh37 Chromosome 1, 151315575: 151315575
58 RFX5 NM_000449.3(RFX5): c.-74T> G single nucleotide variant Uncertain significance rs138110902 GRCh38 Chromosome 1, 151346542: 151346542
59 RFX5 NM_000449.3(RFX5): c.-74T> G single nucleotide variant Uncertain significance rs138110902 GRCh37 Chromosome 1, 151319018: 151319018
60 RFX5 NM_000449.3(RFX5): c.*694delG deletion Uncertain significance rs570133232 GRCh38 Chromosome 1, 151341492: 151341492
61 RFX5 NM_000449.3(RFX5): c.*694delG deletion Uncertain significance rs570133232 GRCh37 Chromosome 1, 151313968: 151313968
62 RFX5 NM_000449.3(RFX5): c.*985delT deletion Uncertain significance rs886045279 GRCh37 Chromosome 1, 151313677: 151313677
63 RFX5 NM_000449.3(RFX5): c.*985delT deletion Uncertain significance rs886045279 GRCh38 Chromosome 1, 151341201: 151341201
64 RFX5 NM_000449.3(RFX5): c.*888T> C single nucleotide variant Benign rs7552906 GRCh38 Chromosome 1, 151341298: 151341298
65 RFX5 NM_000449.3(RFX5): c.*888T> C single nucleotide variant Benign rs7552906 GRCh37 Chromosome 1, 151313774: 151313774
66 RFX5 NM_000449.3(RFX5): c.1746G> C (p.Lys582Asn) single nucleotide variant Uncertain significance rs750907232 GRCh38 Chromosome 1, 151342291: 151342291
67 RFX5 NM_000449.3(RFX5): c.1746G> C (p.Lys582Asn) single nucleotide variant Uncertain significance rs750907232 GRCh37 Chromosome 1, 151314767: 151314767
68 RFX5 NM_000449.3(RFX5): c.64G> A (p.Ala22Thr) single nucleotide variant Benign/Likely benign rs2233843 GRCh37 Chromosome 1, 151318733: 151318733
69 RFX5 NM_000449.3(RFX5): c.64G> A (p.Ala22Thr) single nucleotide variant Benign/Likely benign rs2233843 GRCh38 Chromosome 1, 151346257: 151346257
70 RFX5 NM_000449.3(RFX5): c.*1330C> T single nucleotide variant Uncertain significance rs886045276 GRCh37 Chromosome 1, 151313332: 151313332
71 RFX5 NM_000449.3(RFX5): c.*1330C> T single nucleotide variant Uncertain significance rs886045276 GRCh38 Chromosome 1, 151340856: 151340856
72 RFX5 NM_000449.3(RFX5): c.*1252C> G single nucleotide variant Uncertain significance rs886045277 GRCh37 Chromosome 1, 151313410: 151313410
73 RFX5 NM_000449.3(RFX5): c.*1252C> G single nucleotide variant Uncertain significance rs886045277 GRCh38 Chromosome 1, 151340934: 151340934
74 RFX5 NM_000449.3(RFX5): c.*1177C> T single nucleotide variant Uncertain significance rs567453441 GRCh37 Chromosome 1, 151313485: 151313485
75 RFX5 NM_000449.3(RFX5): c.*1177C> T single nucleotide variant Uncertain significance rs567453441 GRCh38 Chromosome 1, 151341009: 151341009
76 RFX5 NM_000449.3(RFX5): c.*1078C> T single nucleotide variant Uncertain significance rs886045278 GRCh37 Chromosome 1, 151313584: 151313584
77 RFX5 NM_000449.3(RFX5): c.*1078C> T single nucleotide variant Uncertain significance rs886045278 GRCh38 Chromosome 1, 151341108: 151341108
78 RFX5 NM_000449.3(RFX5): c.*373G> T single nucleotide variant Uncertain significance rs886045280 GRCh38 Chromosome 1, 151341813: 151341813
79 RFX5 NM_000449.3(RFX5): c.*373G> T single nucleotide variant Uncertain significance rs886045280 GRCh37 Chromosome 1, 151314289: 151314289
80 RFX5 NM_000449.3(RFX5): c.4G> A (p.Ala2Thr) single nucleotide variant Uncertain significance rs886045283 GRCh38 Chromosome 1, 151346317: 151346317
81 RFX5 NM_000449.3(RFX5): c.4G> A (p.Ala2Thr) single nucleotide variant Uncertain significance rs886045283 GRCh37 Chromosome 1, 151318793: 151318793
82 RFX5 NM_000449.3(RFX5): c.-98G> A single nucleotide variant Uncertain significance rs555635380 GRCh38 Chromosome 1, 151346566: 151346566
83 RFX5 NM_000449.3(RFX5): c.-98G> A single nucleotide variant Uncertain significance rs555635380 GRCh37 Chromosome 1, 151319042: 151319042
84 RFX5 NM_000449.3(RFX5): c.-138-8C> A single nucleotide variant Uncertain significance rs886045284 GRCh38 Chromosome 1, 151346614: 151346614
85 RFX5 NM_000449.3(RFX5): c.-138-8C> A single nucleotide variant Uncertain significance rs886045284 GRCh37 Chromosome 1, 151319090: 151319090
86 RFX5 NM_000449.3(RFX5): c.*1118A> G single nucleotide variant Uncertain significance rs755296550 GRCh37 Chromosome 1, 151313544: 151313544
87 RFX5 NM_000449.3(RFX5): c.*1118A> G single nucleotide variant Uncertain significance rs755296550 GRCh38 Chromosome 1, 151341068: 151341068
88 RFX5 NM_000449.3(RFX5): c.*838A> G single nucleotide variant Uncertain significance rs552790524 GRCh38 Chromosome 1, 151341348: 151341348
89 RFX5 NM_000449.3(RFX5): c.*838A> G single nucleotide variant Uncertain significance rs552790524 GRCh37 Chromosome 1, 151313824: 151313824
90 RFX5 NM_000449.3(RFX5): c.*364A> C single nucleotide variant Uncertain significance rs769251514 GRCh38 Chromosome 1, 151341822: 151341822
91 RFX5 NM_000449.3(RFX5): c.*364A> C single nucleotide variant Uncertain significance rs769251514 GRCh37 Chromosome 1, 151314298: 151314298
92 RFX5 NM_000449.3(RFX5): c.*224T> C single nucleotide variant Uncertain significance rs886045281 GRCh38 Chromosome 1, 151341962: 151341962
93 RFX5 NM_000449.3(RFX5): c.*224T> C single nucleotide variant Uncertain significance rs886045281 GRCh37 Chromosome 1, 151314438: 151314438
94 RFX5 NM_000449.3(RFX5): c.1661_1663delCAG (p.Ala554del) deletion Uncertain significance rs886045282 GRCh38 Chromosome 1, 151342374: 151342376
95 RFX5 NM_000449.3(RFX5): c.1661_1663delCAG (p.Ala554del) deletion Uncertain significance rs886045282 GRCh37 Chromosome 1, 151314850: 151314852
96 RFX5 NM_000449.3(RFX5): c.1226C> G (p.Pro409Arg) single nucleotide variant Benign/Likely benign rs2233854 GRCh38 Chromosome 1, 151342811: 151342811
97 RFX5 NM_000449.3(RFX5): c.1226C> G (p.Pro409Arg) single nucleotide variant Benign/Likely benign rs2233854 GRCh37 Chromosome 1, 151315287: 151315287
98 RFX5 NM_000449.3(RFX5): c.40G> A (p.Gly14Arg) single nucleotide variant Uncertain significance rs143245407 GRCh37 Chromosome 1, 151318757: 151318757
99 RFX5 NM_000449.3(RFX5): c.982C> A (p.Arg328=) single nucleotide variant Conflicting interpretations of pathogenicity rs78854744 GRCh38 Chromosome 1, 151343055: 151343055
100 RFX5 NM_000449.3(RFX5): c.982C> A (p.Arg328=) single nucleotide variant Conflicting interpretations of pathogenicity rs78854744 GRCh37 Chromosome 1, 151315531: 151315531
101 RFX5 NM_000449.3(RFX5): c.858+13G> A single nucleotide variant Uncertain significance rs778371620 GRCh38 Chromosome 1, 151343329: 151343329
102 RFX5 NM_000449.3(RFX5): c.858+13G> A single nucleotide variant Uncertain significance rs778371620 GRCh37 Chromosome 1, 151315805: 151315805
103 RFX5 NM_000449.3(RFX5): c.590G> A (p.Arg197Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs2233851 GRCh38 Chromosome 1, 151343848: 151343848
104 RFX5 NM_000449.3(RFX5): c.590G> A (p.Arg197Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs2233851 GRCh37 Chromosome 1, 151316324: 151316324
105 RFX5 NM_000449.3(RFX5): c.40G> A (p.Gly14Arg) single nucleotide variant Uncertain significance rs143245407 GRCh38 Chromosome 1, 151346281: 151346281
106 RFXAP NM_000538.3(RFXAP): c.-144G> A single nucleotide variant Uncertain significance rs886050140 GRCh38 Chromosome 13, 36819214: 36819214
107 RFXAP NM_000538.3(RFXAP): c.-144G> A single nucleotide variant Uncertain significance rs886050140 GRCh37 Chromosome 13, 37393351: 37393351
108 RFXAP NM_000538.3(RFXAP): c.15T> C (p.Gly5=) single nucleotide variant Uncertain significance rs772887500 GRCh38 Chromosome 13, 36819372: 36819372
109 RFXAP NM_000538.3(RFXAP): c.15T> C (p.Gly5=) single nucleotide variant Uncertain significance rs772887500 GRCh37 Chromosome 13, 37393509: 37393509
110 RFXAP NM_000538.3(RFXAP): c.312C> T (p.Ser104=) single nucleotide variant Uncertain significance rs373233313 GRCh38 Chromosome 13, 36819669: 36819669
111 RFXAP NM_000538.3(RFXAP): c.312C> T (p.Ser104=) single nucleotide variant Uncertain significance rs373233313 GRCh37 Chromosome 13, 37393806: 37393806
112 RFXAP NM_000538.3(RFXAP): c.666A> G (p.Ala222=) single nucleotide variant Uncertain significance rs139675642 GRCh38 Chromosome 13, 36825493: 36825493
113 RFXAP NM_000538.3(RFXAP): c.666A> G (p.Ala222=) single nucleotide variant Uncertain significance rs139675642 GRCh37 Chromosome 13, 37399630: 37399630
114 RFXAP NM_000538.3(RFXAP): c.801T> C (p.Phe267=) single nucleotide variant Uncertain significance rs536976297 GRCh38 Chromosome 13, 36827735: 36827735
115 RFXAP NM_000538.3(RFXAP): c.801T> C (p.Phe267=) single nucleotide variant Uncertain significance rs536976297 GRCh37 Chromosome 13, 37401872: 37401872
116 RFXAP NM_000538.3(RFXAP): c.*33delT deletion Benign rs398022347 GRCh38 Chromosome 13, 36827786: 36827786
117 RFXAP NM_000538.3(RFXAP): c.*33delT deletion Benign rs398022347 GRCh37 Chromosome 13, 37401923: 37401923
118 RFXAP NM_000538.3(RFXAP): c.*55A> G single nucleotide variant Likely benign rs7321405 GRCh38 Chromosome 13, 36827808: 36827808
119 RFXAP NM_000538.3(RFXAP): c.*55A> G single nucleotide variant Likely benign rs7321405 GRCh37 Chromosome 13, 37401945: 37401945
120 RFXAP NM_000538.3(RFXAP): c.*818A> G single nucleotide variant Uncertain significance rs545155315 GRCh38 Chromosome 13, 36828571: 36828571
121 RFXAP NM_000538.3(RFXAP): c.*818A> G single nucleotide variant Uncertain significance rs545155315 GRCh37 Chromosome 13, 37402708: 37402708
122 RFXAP NM_000538.3(RFXAP): c.*1240G> T single nucleotide variant Uncertain significance rs886050144 GRCh37 Chromosome 13, 37403130: 37403130
123 RFXAP NM_000538.3(RFXAP): c.*1240G> T single nucleotide variant Uncertain significance rs886050144 GRCh38 Chromosome 13, 36828993: 36828993
124 RFXAP NM_000538.3(RFXAP): c.*1387T> C single nucleotide variant Uncertain significance rs886050145 GRCh37 Chromosome 13, 37403277: 37403277
125 RFXAP NM_000538.3(RFXAP): c.*1387T> C single nucleotide variant Uncertain significance rs886050145 GRCh38 Chromosome 13, 36829140: 36829140
126 RFXAP NM_000538.3(RFXAP): c.*1826delT deletion Uncertain significance rs142735439 GRCh37 Chromosome 13, 37403716: 37403716
127 RFXAP NM_000538.3(RFXAP): c.*1826delT deletion Uncertain significance rs142735439 GRCh38 Chromosome 13, 36829579: 36829579
128 CIITA NM_000246.3(CIITA): c.-82G> A single nucleotide variant Uncertain significance rs886051635 GRCh38 Chromosome 16, 10877249: 10877249
129 CIITA NM_000246.3(CIITA): c.-82G> A single nucleotide variant Uncertain significance rs886051635 GRCh37 Chromosome 16, 10971106: 10971106
130 CIITA NM_000246.3(CIITA): c.-46G> A single nucleotide variant Likely benign rs115659359 GRCh38 Chromosome 16, 10877285: 10877285
131 CIITA NM_000246.3(CIITA): c.-46G> A single nucleotide variant Likely benign rs115659359 GRCh37 Chromosome 16, 10971142: 10971142
132 CIITA NM_000246.3(CIITA): c.147C> T (p.His49=) single nucleotide variant Uncertain significance rs886051636 GRCh38 Chromosome 16, 10895376: 10895376
133 CIITA NM_000246.3(CIITA): c.147C> T (p.His49=) single nucleotide variant Uncertain significance rs886051636 GRCh37 Chromosome 16, 10989233: 10989233
134 CIITA NM_000246.3(CIITA): c.384C> T (p.Ile128=) single nucleotide variant Uncertain significance rs140106499 GRCh38 Chromosome 16, 10898950: 10898950
135 CIITA NM_000246.3(CIITA): c.384C> T (p.Ile128=) single nucleotide variant Uncertain significance rs140106499 GRCh37 Chromosome 16, 10992807: 10992807
136 CIITA NM_000246.3(CIITA): c.456G> A (p.Pro152=) single nucleotide variant Conflicting interpretations of pathogenicity rs151317882 GRCh38 Chromosome 16, 10901533: 10901533
137 CIITA NM_000246.3(CIITA): c.456G> A (p.Pro152=) single nucleotide variant Conflicting interpretations of pathogenicity rs151317882 GRCh37 Chromosome 16, 10995390: 10995390
138 CIITA NM_000246.3(CIITA): c.492C> G (p.Pro164=) single nucleotide variant Uncertain significance rs142478532 GRCh38 Chromosome 16, 10902048: 10902048
139 CIITA NM_000246.3(CIITA): c.492C> G (p.Pro164=) single nucleotide variant Uncertain significance rs142478532 GRCh37 Chromosome 16, 10995905: 10995905
140 CIITA NM_000246.3(CIITA): c.772+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs557455283 GRCh38 Chromosome 16, 10902809: 10902809
141 CIITA NM_000246.3(CIITA): c.772+8C> T single nucleotide variant Conflicting interpretations of pathogenicity rs557455283 GRCh37 Chromosome 16, 10996666: 10996666
142 CIITA NM_000246.3(CIITA): c.1215G> T (p.Lys405Asn) single nucleotide variant Uncertain significance rs886051638 GRCh38 Chromosome 16, 10906707: 10906707
143 CIITA NM_000246.3(CIITA): c.1215G> T (p.Lys405Asn) single nucleotide variant Uncertain significance rs886051638 GRCh37 Chromosome 16, 11000564: 11000564
144 CIITA NM_000246.3(CIITA): c.1241G> A (p.Arg414Gln) single nucleotide variant Uncertain significance rs572327540 GRCh38 Chromosome 16, 10906733: 10906733
145 CIITA NM_000246.3(CIITA): c.1241G> A (p.Arg414Gln) single nucleotide variant Uncertain significance rs572327540 GRCh37 Chromosome 16, 11000590: 11000590
146 CIITA NM_000246.3(CIITA): c.1376C> T (p.Pro459Leu) single nucleotide variant Uncertain significance rs774567918 GRCh38 Chromosome 16, 10906868: 10906868
147 CIITA NM_000246.3(CIITA): c.1376C> T (p.Pro459Leu) single nucleotide variant Uncertain significance rs774567918 GRCh37 Chromosome 16, 11000725: 11000725
148 CIITA NM_000246.3(CIITA): c.1518G> A (p.Ala506=) single nucleotide variant Uncertain significance rs201215476 GRCh38 Chromosome 16, 10907010: 10907010
149 CIITA NM_000246.3(CIITA): c.1518G> A (p.Ala506=) single nucleotide variant Uncertain significance rs201215476 GRCh37 Chromosome 16, 11000867: 11000867
150 CIITA NM_000246.3(CIITA): c.1542G> A (p.Thr514=) single nucleotide variant Uncertain significance rs2228239 GRCh38 Chromosome 16, 10907034: 10907034
151 CIITA NM_000246.3(CIITA): c.1542G> A (p.Thr514=) single nucleotide variant Uncertain significance rs2228239 GRCh37 Chromosome 16, 11000891: 11000891
152 CIITA NM_000246.3(CIITA): c.1971G> T (p.Leu657=) single nucleotide variant Uncertain significance rs886051641 GRCh38 Chromosome 16, 10907463: 10907463
153 CIITA NM_000246.3(CIITA): c.1971G> T (p.Leu657=) single nucleotide variant Uncertain significance rs886051641 GRCh37 Chromosome 16, 11001320: 11001320
154 CIITA NM_000246.3(CIITA): c.1973C> G (p.Ala658Gly) single nucleotide variant Benign/Likely benign rs2229319 GRCh38 Chromosome 16, 10907465: 10907465
155 CIITA NM_000246.3(CIITA): c.1973C> G (p.Ala658Gly) single nucleotide variant Benign/Likely benign rs2229319 GRCh37 Chromosome 16, 11001322: 11001322
156 CIITA NM_000246.3(CIITA): c.2472C> T (p.His824=) single nucleotide variant Benign/Likely benign rs45621432 GRCh38 Chromosome 16, 10907964: 10907964
157 CIITA NM_000246.3(CIITA): c.2472C> T (p.His824=) single nucleotide variant Benign/Likely benign rs45621432 GRCh37 Chromosome 16, 11001821: 11001821
158 CIITA NM_000246.3(CIITA): c.2620G> T (p.Gly874Trp) single nucleotide variant Uncertain significance rs113889330 GRCh38 Chromosome 16, 10908112: 10908112
159 CIITA NM_000246.3(CIITA): c.2620G> T (p.Gly874Trp) single nucleotide variant Uncertain significance rs113889330 GRCh37 Chromosome 16, 11001969: 11001969
160 CIITA NM_000246.3(CIITA): c.2651G> A (p.Arg884His) single nucleotide variant Uncertain significance rs374443915 GRCh38 Chromosome 16, 10908143: 10908143
161 CIITA NM_000246.3(CIITA): c.2651G> A (p.Arg884His) single nucleotide variant Uncertain significance rs374443915 GRCh37 Chromosome 16, 11002000: 11002000
162 CIITA NM_000246.3(CIITA): c.2676G> A (p.Thr892=) single nucleotide variant Benign rs2228238 GRCh38 Chromosome 16, 10909047: 10909047
163 CIITA NM_000246.3(CIITA): c.2676G> A (p.Thr892=) single nucleotide variant Benign rs2228238 GRCh37 Chromosome 16, 11002904: 11002904
164 CIITA NM_000246.3(CIITA): c.2699A> G (p.Gln900Arg) single nucleotide variant Benign rs7197779 GRCh38 Chromosome 16, 10909070: 10909070
165 CIITA NM_000246.3(CIITA): c.2699A> G (p.Gln900Arg) single nucleotide variant Benign rs7197779 GRCh37 Chromosome 16, 11002927: 11002927
166 CIITA NM_000246.3(CIITA): c.2709G> A (p.Gly903=) single nucleotide variant Uncertain significance rs755515727 GRCh38 Chromosome 16, 10909080: 10909080
167 CIITA NM_000246.3(CIITA): c.2709G> A (p.Gly903=) single nucleotide variant Uncertain significance rs755515727 GRCh37 Chromosome 16, 11002937: 11002937
168 CIITA NM_000246.3(CIITA): c.2924A> G (p.Lys975Arg) single nucleotide variant Benign/Likely benign rs140103491 GRCh38 Chromosome 16, 10915605: 10915605
169 CIITA NM_000246.3(CIITA): c.2924A> G (p.Lys975Arg) single nucleotide variant Benign/Likely benign rs140103491 GRCh37 Chromosome 16, 11009462: 11009462
170 CIITA NM_000246.3(CIITA): c.3123G> C (p.Ser1041=) single nucleotide variant Uncertain significance rs138925894 GRCh38 Chromosome 16, 10918500: 10918500
171 CIITA NM_000246.3(CIITA): c.3123G> C (p.Ser1041=) single nucleotide variant Uncertain significance rs138925894 GRCh37 Chromosome 16, 11012357: 11012357
172 CIITA NM_000246.3(CIITA): c.3171C> T (p.Cys1057=) single nucleotide variant Likely benign rs2229322 GRCh38 Chromosome 16, 10922188: 10922188
173 CIITA NM_000246.3(CIITA): c.3171C> T (p.Cys1057=) single nucleotide variant Likely benign rs2229322 GRCh37 Chromosome 16, 11016045: 11016045
174 CIITA NM_000246.3(CIITA): c.*125C> T single nucleotide variant Uncertain significance rs548867769 GRCh38 Chromosome 16, 10923980: 10923980
175 CIITA NM_000246.3(CIITA): c.*125C> T single nucleotide variant Uncertain significance rs548867769 GRCh37 Chromosome 16, 11017837: 11017837
176 CIITA NM_000246.3(CIITA): c.*157C> T single nucleotide variant Uncertain significance rs45526038 GRCh38 Chromosome 16, 10924012: 10924012
177 CIITA NM_000246.3(CIITA): c.*157C> T single nucleotide variant Uncertain significance rs45526038 GRCh37 Chromosome 16, 11017869: 11017869
178 CIITA NM_000246.3(CIITA): c.*307G> A single nucleotide variant Uncertain significance rs112026375 GRCh38 Chromosome 16, 10924162: 10924162
179 CIITA NM_000246.3(CIITA): c.*307G> A single nucleotide variant Uncertain significance rs112026375 GRCh37 Chromosome 16, 11018019: 11018019
180 CIITA NM_000246.3(CIITA): c.*465G> A single nucleotide variant Uncertain significance rs190253856 GRCh38 Chromosome 16, 10924320: 10924320
181 CIITA NM_000246.3(CIITA): c.*465G> A single nucleotide variant Uncertain significance rs190253856 GRCh37 Chromosome 16, 11018177: 11018177
182 CIITA NM_000246.3(CIITA): c.*493T> C single nucleotide variant Uncertain significance rs886051643 GRCh38 Chromosome 16, 10924348: 10924348
183 CIITA NM_000246.3(CIITA): c.*493T> C single nucleotide variant Uncertain significance rs886051643 GRCh37 Chromosome 16, 11018205: 11018205
184 CIITA NM_000246.3(CIITA): c.*1092C> T single nucleotide variant Uncertain significance rs886051646 GRCh38 Chromosome 16, 10924947: 10924947
185 CIITA NM_000246.3(CIITA): c.*1092C> T single nucleotide variant Uncertain significance rs886051646 GRCh37 Chromosome 16, 11018804: 11018804
186 RFXAP NM_000538.3(RFXAP): c.410T> C (p.Met137Thr) single nucleotide variant Benign/Likely benign rs193240312 GRCh38 Chromosome 13, 36819767: 36819767
187 RFXAP NM_000538.3(RFXAP): c.410T> C (p.Met137Thr) single nucleotide variant Benign/Likely benign rs193240312 GRCh37 Chromosome 13, 37393904: 37393904
188 RFXAP NM_000538.3(RFXAP): c.430G> A (p.Glu144Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201754085 GRCh38 Chromosome 13, 36819787: 36819787
189 RFXAP NM_000538.3(RFXAP): c.430G> A (p.Glu144Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201754085 GRCh37 Chromosome 13, 37393924: 37393924
190 RFXAP NM_000538.3(RFXAP): c.*472C> T single nucleotide variant Likely benign rs150569371 GRCh38 Chromosome 13, 36828225: 36828225
191 RFXAP NM_000538.3(RFXAP): c.*472C> T single nucleotide variant Likely benign rs150569371 GRCh37 Chromosome 13, 37402362: 37402362
192 RFXAP NM_000538.3(RFXAP): c.*1253G> A single nucleotide variant Likely benign rs10976 GRCh37 Chromosome 13, 37403143: 37403143
193 RFXAP NM_000538.3(RFXAP): c.*1253G> A single nucleotide variant Likely benign rs10976 GRCh38 Chromosome 13, 36829006: 36829006
194 RFXAP NM_000538.3(RFXAP): c.*1431_*1432delGT deletion Uncertain significance rs886050146 GRCh37 Chromosome 13, 37403321: 37403322
195 RFXAP NM_000538.3(RFXAP): c.*1431_*1432delGT deletion Uncertain significance rs886050146 GRCh38 Chromosome 13, 36829184: 36829185
196 RFXAP NM_000538.3(RFXAP): c.*1663G> A single nucleotide variant Uncertain significance rs886050147 GRCh37 Chromosome 13, 37403553: 37403553
197 RFXAP NM_000538.3(RFXAP): c.*1663G> A single nucleotide variant Uncertain significance rs886050147 GRCh38 Chromosome 13, 36829416: 36829416
198 RFXANK NM_003721.3(RFXANK): c.-328G> A single nucleotide variant Likely benign rs62135502 GRCh38 Chromosome 19, 19192376: 19192376
199 RFXANK NM_003721.3(RFXANK): c.-328G> A single nucleotide variant Likely benign rs62135502 GRCh37 Chromosome 19, 19303185: 19303185
200 RFXANK NM_003721.3(RFXANK): c.-116T> C single nucleotide variant Likely benign rs1050483 GRCh38 Chromosome 19, 19192993: 19192993
201 RFXANK NM_003721.3(RFXANK): c.-116T> C single nucleotide variant Likely benign rs1050483 GRCh37 Chromosome 19, 19303802: 19303802
202 RFXANK NM_003721.3(RFXANK): c.187+13C> T single nucleotide variant Uncertain significance rs201778172 GRCh38 Chromosome 19, 19194146: 19194146
203 RFXANK NM_003721.3(RFXANK): c.187+13C> T single nucleotide variant Uncertain significance rs201778172 GRCh37 Chromosome 19, 19304955: 19304955
204 RFXANK NM_003721.3(RFXANK): c.213C> T (p.Thr71=) single nucleotide variant Conflicting interpretations of pathogenicity rs72997200 GRCh38 Chromosome 19, 19196988: 19196988
205 RFXANK NM_003721.3(RFXANK): c.213C> T (p.Thr71=) single nucleotide variant Conflicting interpretations of pathogenicity rs72997200 GRCh37 Chromosome 19, 19307797: 19307797
206 RFXANK NM_003721.3(RFXANK): c.240C> T (p.Asn80=) single nucleotide variant Uncertain significance rs754519730 GRCh38 Chromosome 19, 19197015: 19197015
207 RFXANK NM_003721.3(RFXANK): c.240C> T (p.Asn80=) single nucleotide variant Uncertain significance rs754519730 GRCh37 Chromosome 19, 19307824: 19307824
208 RFXANK NM_003721.3(RFXANK): c.421C> T (p.Arg141Cys) single nucleotide variant Uncertain significance rs779039407 GRCh38 Chromosome 19, 19197604: 19197604
209 RFXANK NM_003721.3(RFXANK): c.421C> T (p.Arg141Cys) single nucleotide variant Uncertain significance rs779039407 GRCh37 Chromosome 19, 19308413: 19308413
210 CIITA NM_000246.3(CIITA): c.200-10T> C single nucleotide variant Conflicting interpretations of pathogenicity rs45474796 GRCh38 Chromosome 16, 10895659: 10895659
211 CIITA NM_000246.3(CIITA): c.200-10T> C single nucleotide variant Conflicting interpretations of pathogenicity rs45474796 GRCh37 Chromosome 16, 10989516: 10989516
212 CIITA NM_000246.3(CIITA): c.225C> T (p.Cys75=) single nucleotide variant Benign/Likely benign rs2229318 GRCh38 Chromosome 16, 10895694: 10895694
213 CIITA NM_000246.3(CIITA): c.225C> T (p.Cys75=) single nucleotide variant Benign/Likely benign rs2229318 GRCh37 Chromosome 16, 10989551: 10989551
214 CIITA NM_000246.3(CIITA): c.294C> T (p.Ile98=) single nucleotide variant Uncertain significance rs200299817 GRCh38 Chromosome 16, 10895763: 10895763
215 CIITA NM_000246.3(CIITA): c.294C> T (p.Ile98=) single nucleotide variant Uncertain significance rs200299817 GRCh37 Chromosome 16, 10989620: 10989620
216 CIITA NM_000246.3(CIITA): c.781C> T (p.Pro261Ser) single nucleotide variant Uncertain significance rs757943329 GRCh38 Chromosome 16, 10903739: 10903739
217 CIITA NM_000246.3(CIITA): c.781C> T (p.Pro261Ser) single nucleotide variant Uncertain significance rs757943329 GRCh37 Chromosome 16, 10997596: 10997596
218 CIITA NM_000246.3(CIITA): c.1296A> T (p.Ala432=) single nucleotide variant Uncertain significance rs886051639 GRCh38 Chromosome 16, 10906788: 10906788
219 CIITA NM_000246.3(CIITA): c.1296A> T (p.Ala432=) single nucleotide variant Uncertain significance rs886051639 GRCh37 Chromosome 16, 11000645: 11000645
220 CIITA NM_000246.3(CIITA): c.1499G> C (p.Gly500Ala) single nucleotide variant Benign rs4774 GRCh37 Chromosome 16, 11000848: 11000848
221 CIITA NM_000246.3(CIITA): c.1499G> C (p.Gly500Ala) single nucleotide variant Benign rs4774 GRCh38 Chromosome 16, 10906991: 10906991
222 CIITA NM_000246.3(CIITA): c.1731C> T (p.Tyr577=) single nucleotide variant Uncertain significance rs142848848 GRCh37 Chromosome 16, 11001080: 11001080
223 CIITA NM_000246.3(CIITA): c.1731C> T (p.Tyr577=) single nucleotide variant Uncertain significance rs142848848 GRCh38 Chromosome 16, 10907223: 10907223
224 CIITA NM_000246.3(CIITA): c.2286C> A (p.Ile762=) single nucleotide variant Benign/Likely benign rs35976871 GRCh38 Chromosome 16, 10907778: 10907778
225 CIITA NM_000246.3(CIITA): c.2286C> A (p.Ile762=) single nucleotide variant Benign/Likely benign rs35976871 GRCh37 Chromosome 16, 11001635: 11001635
226 CIITA NM_000246.3(CIITA): c.2394G> A (p.Pro798=) single nucleotide variant Benign rs2229320 GRCh38 Chromosome 16, 10907886: 10907886
227 CIITA NM_000246.3(CIITA): c.2394G> A (p.Pro798=) single nucleotide variant Benign rs2229320 GRCh37 Chromosome 16, 11001743: 11001743
228 CIITA NM_000246.3(CIITA): c.2834A> C (p.Glu945Ala) single nucleotide variant Uncertain significance rs747917501 GRCh38 Chromosome 16, 10910205: 10910205
229 CIITA NM_000246.3(CIITA): c.2834A> C (p.Glu945Ala) single nucleotide variant Uncertain significance rs747917501 GRCh37 Chromosome 16, 11004062: 11004062
230 CIITA NM_000246.3(CIITA): c.*236G> A single nucleotide variant Uncertain significance rs558642278 GRCh38 Chromosome 16, 10924091: 10924091
231 CIITA NM_000246.3(CIITA): c.*236G> A single nucleotide variant Uncertain significance rs558642278 GRCh37 Chromosome 16, 11017948: 11017948
232 CIITA NM_000246.3(CIITA): c.*314C> A single nucleotide variant Uncertain significance rs185592699 GRCh38 Chromosome 16, 10924169: 10924169
233 CIITA NM_000246.3(CIITA): c.*314C> A single nucleotide variant Uncertain significance rs185592699 GRCh37 Chromosome 16, 11018026: 11018026
234 CIITA NM_000246.3(CIITA): c.*570G> A single nucleotide variant Uncertain significance rs886051645 GRCh38 Chromosome 16, 10924425: 10924425
235 CIITA NM_000246.3(CIITA): c.*570G> A single nucleotide variant Uncertain significance rs886051645 GRCh37 Chromosome 16, 11018282: 11018282
236 CIITA NM_000246.3(CIITA): c.*735G> A single nucleotide variant Likely benign rs34538398 GRCh38 Chromosome 16, 10924590: 10924590
237 CIITA NM_000246.3(CIITA): c.*735G> A single nucleotide variant Likely benign rs34538398 GRCh37 Chromosome 16, 11018447: 11018447
238 RFXAP NM_000538.3(RFXAP): c.-105C> A single nucleotide variant Uncertain significance rs527311083 GRCh38 Chromosome 13, 36819253: 36819253
239 RFXAP NM_000538.3(RFXAP): c.-105C> A single nucleotide variant Uncertain significance rs527311083 GRCh37 Chromosome 13, 37393390: 37393390
240 RFXAP NM_000538.3(RFXAP): c.77C> G (p.Pro26Arg) single nucleotide variant Uncertain significance rs763162669 GRCh38 Chromosome 13, 36819434: 36819434
241 RFXAP NM_000538.3(RFXAP): c.77C> G (p.Pro26Arg) single nucleotide variant Uncertain significance rs763162669 GRCh37 Chromosome 13, 37393571: 37393571
242 RFXAP NM_000538.3(RFXAP): c.*81G> A single nucleotide variant Uncertain significance rs886050143 GRCh38 Chromosome 13, 36827834: 36827834
243 RFXAP NM_000538.3(RFXAP): c.*81G> A single nucleotide variant Uncertain significance rs886050143 GRCh37 Chromosome 13, 37401971: 37401971
244 RFXAP NM_000538.3(RFXAP): c.*1092A> G single nucleotide variant Likely benign rs17054519 GRCh37 Chromosome 13, 37402982: 37402982
245 RFXAP NM_000538.3(RFXAP): c.*1092A> G single nucleotide variant Likely benign rs17054519 GRCh38 Chromosome 13, 36828845: 36828845
246 RFXAP NM_000538.3(RFXAP): c.*1194A> G single nucleotide variant Uncertain significance rs11539183 GRCh37 Chromosome 13, 37403084: 37403084
247 RFXAP NM_000538.3(RFXAP): c.*1194A> G single nucleotide variant Uncertain significance rs11539183 GRCh38 Chromosome 13, 36828947: 36828947
248 RFXAP NM_000538.3(RFXAP): c.-116C> G single nucleotide variant Uncertain significance rs886050141 GRCh38 Chromosome 13, 36819242: 36819242
249 RFXAP NM_000538.3(RFXAP): c.-116C> G single nucleotide variant Uncertain significance rs886050141 GRCh37 Chromosome 13, 37393379: 37393379
250 RFXAP NM_000538.3(RFXAP): c.-101T> G single nucleotide variant Uncertain significance rs566055344 GRCh38 Chromosome 13, 36819257: 36819257
251 RFXAP NM_000538.3(RFXAP): c.-101T> G single nucleotide variant Uncertain significance rs566055344 GRCh37 Chromosome 13, 37393394: 37393394
252 RFXAP NM_000538.3(RFXAP): c.192C> G (p.Ser64Arg) single nucleotide variant Uncertain significance rs758076793 GRCh38 Chromosome 13, 36819549: 36819549
253 RFXAP NM_000538.3(RFXAP): c.192C> G (p.Ser64Arg) single nucleotide variant Uncertain significance rs758076793 GRCh37 Chromosome 13, 37393686: 37393686
254 RFXAP NM_000538.3(RFXAP): c.354G> C (p.Ser118=) single nucleotide variant Conflicting interpretations of pathogenicity rs113555392 GRCh38 Chromosome 13, 36819711: 36819711
255 RFXAP NM_000538.3(RFXAP): c.354G> C (p.Ser118=) single nucleotide variant Conflicting interpretations of pathogenicity rs113555392 GRCh37 Chromosome 13, 37393848: 37393848
256 RFXAP NM_000538.3(RFXAP): c.601-4C> T single nucleotide variant Uncertain significance rs886050142 GRCh38 Chromosome 13, 36825424: 36825424
257 RFXAP NM_000538.3(RFXAP): c.601-4C> T single nucleotide variant Uncertain significance rs886050142 GRCh37 Chromosome 13, 37399561: 37399561
258 RFXAP NM_000538.3(RFXAP): c.756A> G (p.Gln252=) single nucleotide variant Likely benign rs141918438 GRCh38 Chromosome 13, 36827690: 36827690
259 RFXAP NM_000538.3(RFXAP): c.756A> G (p.Gln252=) single nucleotide variant Likely benign rs141918438 GRCh37 Chromosome 13, 37401827: 37401827
260 RFXAP NM_000538.3(RFXAP): c.*550T> C single nucleotide variant Benign rs9547679 GRCh38 Chromosome 13, 36828303: 36828303
261 RFXAP NM_000538.3(RFXAP): c.*550T> C single nucleotide variant Benign rs9547679 GRCh37 Chromosome 13, 37402440: 37402440
262 CIITA NM_000246.3(CIITA): c.-115T> G single nucleotide variant Uncertain significance rs189636033 GRCh38 Chromosome 16, 10877216: 10877216
263 CIITA NM_000246.3(CIITA): c.-115T> G single nucleotide variant Uncertain significance rs189636033 GRCh37 Chromosome 16, 10971073: 10971073
264 CIITA NM_000246.3(CIITA): c.133C> G (p.Leu45Val) single nucleotide variant Benign rs2229317 GRCh38 Chromosome 16, 10895362: 10895362
265 CIITA NM_000246.3(CIITA): c.133C> G (p.Leu45Val) single nucleotide variant Benign rs2229317 GRCh37 Chromosome 16, 10989219: 10989219
266 CIITA NM_000246.3(CIITA): c.616G> A (p.Asp206Asn) single nucleotide variant Uncertain significance rs771338224 GRCh38 Chromosome 16, 10902172: 10902172
267 CIITA NM_000246.3(CIITA): c.616G> A (p.Asp206Asn) single nucleotide variant Uncertain significance rs771338224 GRCh37 Chromosome 16, 10996029: 10996029
268 CIITA NM_000246.3(CIITA): c.773-11C> T single nucleotide variant Uncertain significance rs767721211 GRCh38 Chromosome 16, 10903720: 10903720
269 CIITA NM_000246.3(CIITA): c.773-11C> T single nucleotide variant Uncertain significance rs767721211 GRCh37 Chromosome 16, 10997577: 10997577
270 CIITA NM_000246.3(CIITA): c.1006+12G> A single nucleotide variant Uncertain significance rs368964652 GRCh38 Chromosome 16, 10904824: 10904824
271 CIITA NM_000246.3(CIITA): c.1006+12G> A single nucleotide variant Uncertain significance rs368964652 GRCh37 Chromosome 16, 10998681: 10998681
272 CIITA NM_000246.3(CIITA): c.1047T> C (p.Tyr349=) single nucleotide variant Uncertain significance rs144735718 GRCh38 Chromosome 16, 10906539: 10906539
273 CIITA NM_000246.3(CIITA): c.1047T> C (p.Tyr349=) single nucleotide variant Uncertain significance rs144735718 GRCh37 Chromosome 16, 11000396: 11000396
274 CIITA NM_000246.3(CIITA): c.2087A> G (p.Gln696Arg) single nucleotide variant Uncertain significance rs886051642 GRCh38 Chromosome 16, 10907579: 10907579
275 CIITA NM_000246.3(CIITA): c.2087A> G (p.Gln696Arg) single nucleotide variant Uncertain significance rs886051642 GRCh37 Chromosome 16, 11001436: 11001436
276 CIITA NM_000246.3(CIITA): c.2096C> T (p.Pro699Leu) single nucleotide variant Uncertain significance rs369787912 GRCh38 Chromosome 16, 10907588: 10907588
277 CIITA NM_000246.3(CIITA): c.2096C> T (p.Pro699Leu) single nucleotide variant Uncertain significance rs369787912 GRCh37 Chromosome 16, 11001445: 11001445
278 CIITA NM_000246.3(CIITA): c.2331G> T (p.Ser777=) single nucleotide variant Likely benign rs34685848 GRCh38 Chromosome 16, 10907823: 10907823
279 CIITA NM_000246.3(CIITA): c.2331G> T (p.Ser777=) single nucleotide variant Likely benign rs34685848 GRCh37 Chromosome 16, 11001680: 11001680
280 CIITA NM_000246.3(CIITA): c.2342C> T (p.Ser781Leu) single nucleotide variant Benign/Likely benign rs13330686 GRCh38 Chromosome 16, 10907834: 10907834
281 CIITA NM_000246.3(CIITA): c.2342C> T (p.Ser781Leu) single nucleotide variant Benign/Likely benign rs13330686 GRCh37 Chromosome 16, 11001691: 11001691
282 CIITA NM_000246.3(CIITA): c.2345T> C (p.Val782Ala) single nucleotide variant Benign/Likely benign rs13336804 GRCh38 Chromosome 16, 10907837: 10907837
283 CIITA NM_000246.3(CIITA): c.2345T> C (p.Val782Ala) single nucleotide variant Benign/Likely benign rs13336804 GRCh37 Chromosome 16, 11001694: 11001694
284 CIITA NM_000246.3(CIITA): c.2421G> T (p.Leu807=) single nucleotide variant Benign rs34654419 GRCh38 Chromosome 16, 10907913: 10907913
285 CIITA NM_000246.3(CIITA): c.2421G> T (p.Leu807=) single nucleotide variant Benign rs34654419 GRCh37 Chromosome 16, 11001770: 11001770
286 CIITA NM_000246.3(CIITA): c.3255G> A (p.Thr1085=) single nucleotide variant Conflicting interpretations of pathogenicity rs75521576 GRCh38 Chromosome 16, 10922428: 10922428
287 CIITA NM_000246.3(CIITA): c.3255G> A (p.Thr1085=) single nucleotide variant Conflicting interpretations of pathogenicity rs75521576 GRCh37 Chromosome 16, 11016285: 11016285
288 CIITA NM_000246.3(CIITA): c.*103T> C single nucleotide variant Uncertain significance rs45617532 GRCh38 Chromosome 16, 10923958: 10923958
289 CIITA NM_000246.3(CIITA): c.*103T> C single nucleotide variant Uncertain significance rs45617532 GRCh37 Chromosome 16, 11017815: 11017815
290 CIITA NM_000246.3(CIITA): c.*158G> A single nucleotide variant Likely benign rs45451491 GRCh38 Chromosome 16, 10924013: 10924013
291 CIITA NM_000246.3(CIITA): c.*158G> A single nucleotide variant Likely benign rs45451491 GRCh37 Chromosome 16, 11017870: 11017870
292 CIITA NM_000246.3(CIITA): c.*261C> T single nucleotide variant Uncertain significance rs45447897 GRCh38 Chromosome 16, 10924116: 10924116
293 CIITA NM_000246.3(CIITA): c.*261C> T single nucleotide variant Uncertain significance rs45447897 GRCh37 Chromosome 16, 11017973: 11017973
294 CIITA NM_000246.3(CIITA): c.*414T> C single nucleotide variant Uncertain significance rs141707720 GRCh38 Chromosome 16, 10924269: 10924269
295 CIITA NM_000246.3(CIITA): c.*414T> C single nucleotide variant Uncertain significance rs141707720 GRCh37 Chromosome 16, 11018126: 11018126
296 CIITA NM_000246.3(CIITA): c.*524A> G single nucleotide variant Uncertain significance rs886051644 GRCh38 Chromosome 16, 10924379: 10924379
297 CIITA NM_000246.3(CIITA): c.*524A> G single nucleotide variant Uncertain significance rs886051644 GRCh37 Chromosome 16, 11018236: 11018236
298 CIITA NM_000246.3(CIITA): c.*587A> G single nucleotide variant Uncertain significance rs374276437 GRCh37 Chromosome 16, 11018299: 11018299
299 CIITA NM_000246.3(CIITA): c.*587A> G single nucleotide variant Uncertain significance rs374276437 GRCh38 Chromosome 16, 10924442: 10924442
300 CIITA NM_000246.3(CIITA): c.*644C> G single nucleotide variant Uncertain significance rs139802594 GRCh37 Chromosome 16, 11018356: 11018356
301 CIITA NM_000246.3(CIITA): c.*644C> G single nucleotide variant Uncertain significance rs139802594 GRCh38 Chromosome 16, 10924499: 10924499
302 CIITA NM_000246.3(CIITA): c.*690C> T single nucleotide variant Likely benign rs11074940 GRCh37 Chromosome 16, 11018402: 11018402
303 CIITA NM_000246.3(CIITA): c.*690C> T single nucleotide variant Likely benign rs11074940 GRCh38 Chromosome 16, 10924545: 10924545
304 CIITA NM_000246.3(CIITA): c.*709G> T single nucleotide variant Uncertain significance rs551164286 GRCh38 Chromosome 16, 10924564: 10924564
305 CIITA NM_000246.3(CIITA): c.*709G> T single nucleotide variant Uncertain significance rs551164286 GRCh37 Chromosome 16, 11018421: 11018421
306 CIITA NM_000246.3(CIITA): c.491C> G (p.Pro164Arg) single nucleotide variant Uncertain significance rs886051637 GRCh38 Chromosome 16, 10902047: 10902047
307 CIITA NM_000246.3(CIITA): c.491C> G (p.Pro164Arg) single nucleotide variant Uncertain significance rs886051637 GRCh37 Chromosome 16, 10995904: 10995904
308 CIITA NM_000246.3(CIITA): c.1493T> C (p.Leu498Pro) single nucleotide variant Uncertain significance rs886051640 GRCh38 Chromosome 16, 10906985: 10906985
309 CIITA NM_000246.3(CIITA): c.1493T> C (p.Leu498Pro) single nucleotide variant Uncertain significance rs886051640 GRCh37 Chromosome 16, 11000842: 11000842
310 CIITA NM_000246.3(CIITA): c.1635C> G (p.Leu545=) single nucleotide variant Uncertain significance rs748330320 GRCh38 Chromosome 16, 10907127: 10907127
311 CIITA NM_000246.3(CIITA): c.1635C> G (p.Leu545=) single nucleotide variant Uncertain significance rs748330320 GRCh37 Chromosome 16, 11000984: 11000984
312 CIITA NM_000246.3(CIITA): c.1926C> T (p.Val642=) single nucleotide variant Uncertain significance rs138376967 GRCh37 Chromosome 16, 11001275: 11001275
313 CIITA NM_000246.3(CIITA): c.1926C> T (p.Val642=) single nucleotide variant Uncertain significance rs138376967 GRCh38 Chromosome 16, 10907418: 10907418
314 CIITA NM_000246.3(CIITA): c.2072C> A (p.Ala691Asp) single nucleotide variant Benign/Likely benign rs78108426 GRCh38 Chromosome 16, 10907564: 10907564
315 CIITA NM_000246.3(CIITA): c.2072C> A (p.Ala691Asp) single nucleotide variant Benign/Likely benign rs78108426 GRCh37 Chromosome 16, 11001421: 11001421
316 CIITA NM_000246.3(CIITA): c.2148C> T (p.Phe716=) single nucleotide variant Uncertain significance rs762483007 GRCh38 Chromosome 16, 10907640: 10907640
317 CIITA NM_000246.3(CIITA): c.2148C> T (p.Phe716=) single nucleotide variant Uncertain significance rs762483007 GRCh37 Chromosome 16, 11001497: 11001497
318 CIITA NM_000246.3(CIITA): c.2405G> A (p.Arg802Gln) single nucleotide variant Uncertain significance rs201182990 GRCh38 Chromosome 16, 10907897: 10907897
319 CIITA NM_000246.3(CIITA): c.2405G> A (p.Arg802Gln) single nucleotide variant Uncertain significance rs201182990 GRCh37 Chromosome 16, 11001754: 11001754
320 CIITA NM_000246.3(CIITA): c.2565G> A (p.Ala855=) single nucleotide variant Benign/Likely benign rs2229321 GRCh38 Chromosome 16, 10908057: 10908057
321 CIITA NM_000246.3(CIITA): c.2565G> A (p.Ala855=) single nucleotide variant Benign/Likely benign rs2229321 GRCh37 Chromosome 16, 11001914: 11001914
322 CIITA NM_000246.3(CIITA): c.3063-12G> T single nucleotide variant Uncertain significance rs559875711 GRCh38 Chromosome 16, 10918428: 10918428
323 CIITA NM_000246.3(CIITA): c.3063-12G> T single nucleotide variant Uncertain significance rs559875711 GRCh37 Chromosome 16, 11012285: 11012285
324 CIITA NM_000246.3(CIITA): c.3149+11C> T single nucleotide variant Uncertain significance rs371453398 GRCh38 Chromosome 16, 10918537: 10918537
325 CIITA NM_000246.3(CIITA): c.3149+11C> T single nucleotide variant Uncertain significance rs371453398 GRCh37 Chromosome 16, 11012394: 11012394
326 CIITA NM_000246.3(CIITA): c.*23-7G> C single nucleotide variant Likely benign rs4780336 GRCh38 Chromosome 16, 10923871: 10923871
327 CIITA NM_000246.3(CIITA): c.*23-7G> C single nucleotide variant Likely benign rs4780336 GRCh37 Chromosome 16, 11017728: 11017728
328 CIITA NM_000246.3(CIITA): c.*203C> T single nucleotide variant Uncertain significance rs527874709 GRCh38 Chromosome 16, 10924058: 10924058
329 CIITA NM_000246.3(CIITA): c.*203C> T single nucleotide variant Uncertain significance rs527874709 GRCh37 Chromosome 16, 11017915: 11017915
330 CIITA NM_000246.3(CIITA): c.*910T> C single nucleotide variant Benign rs1139564 GRCh38 Chromosome 16, 10924765: 10924765
331 CIITA NM_000246.3(CIITA): c.*910T> C single nucleotide variant Benign rs1139564 GRCh37 Chromosome 16, 11018622: 11018622
332 CIITA NM_000246.3(CIITA): c.*911G> A single nucleotide variant Likely benign rs45466393 GRCh38 Chromosome 16, 10924766: 10924766
333 CIITA NM_000246.3(CIITA): c.*911G> A single nucleotide variant Likely benign rs45466393 GRCh37 Chromosome 16, 11018623: 11018623
334 CIITA NM_000246.3(CIITA): c.*927G> A single nucleotide variant Uncertain significance rs45538933 GRCh38 Chromosome 16, 10924782: 10924782
335 CIITA NM_000246.3(CIITA): c.*927G> A single nucleotide variant Uncertain significance rs45538933 GRCh37 Chromosome 16, 11018639: 11018639
336 RFXANK NM_003721.3(RFXANK): c.-495C> G single nucleotide variant Uncertain significance rs886054308 GRCh38 Chromosome 19, 19192209: 19192209
337 RFXANK NM_003721.3(RFXANK): c.-495C> G single nucleotide variant Uncertain significance rs886054308 GRCh37 Chromosome 19, 19303018: 19303018
338 RFXANK NM_003721.3(RFXANK): c.-229C> T single nucleotide variant Likely benign rs79003009 GRCh38 Chromosome 19, 19192475: 19192475
339 RFXANK NM_003721.3(RFXANK): c.-229C> T single nucleotide variant Likely benign rs79003009 GRCh37 Chromosome 19, 19303284: 19303284
340 RFXANK NM_003721.3(RFXANK): c.144G> C (p.Glu48Asp) single nucleotide variant Benign/Likely benign rs34282046 GRCh38 Chromosome 19, 19194090: 19194090
341 RFXANK NM_003721.3(RFXANK): c.144G> C (p.Glu48Asp) single nucleotide variant Benign/Likely benign rs34282046 GRCh37 Chromosome 19, 19304899: 19304899
342 RFXANK NM_003721.3(RFXANK): c.635G> A (p.Arg212Gln) single nucleotide variant Uncertain significance rs757517948 GRCh38 Chromosome 19, 19199157: 19199157
343 RFXANK NM_003721.3(RFXANK): c.635G> A (p.Arg212Gln) single nucleotide variant Uncertain significance rs757517948 GRCh37 Chromosome 19, 19309966: 19309966
344 RFXANK NM_003721.3(RFXANK): c.-366C> A single nucleotide variant Likely benign rs116660619 GRCh38 Chromosome 19, 19192338: 19192338
345 RFXANK NM_003721.3(RFXANK): c.-366C> A single nucleotide variant Likely benign rs116660619 GRCh37 Chromosome 19, 19303147: 19303147
346 RFXANK NM_003721.3(RFXANK): c.-298C> T single nucleotide variant Uncertain significance rs573479798 GRCh38 Chromosome 19, 19192406: 19192406
347 RFXANK NM_003721.3(RFXANK): c.-298C> T single nucleotide variant Uncertain significance rs573479798 GRCh37 Chromosome 19, 19303215: 19303215
348 RFXANK NM_003721.3(RFXANK): c.-240A> T single nucleotide variant Likely benign rs73922821 GRCh38 Chromosome 19, 19192464: 19192464
349 RFXANK NM_003721.3(RFXANK): c.-240A> T single nucleotide variant Likely benign rs73922821 GRCh37 Chromosome 19, 19303273: 19303273
350 RFXANK NM_003721.3(RFXANK): c.514A> G (p.Ile172Val) single nucleotide variant Uncertain significance rs886054309 GRCh38 Chromosome 19, 19198182: 19198182
351 RFXANK NM_003721.3(RFXANK): c.514A> G (p.Ile172Val) single nucleotide variant Uncertain significance rs886054309 GRCh37 Chromosome 19, 19308991: 19308991
352 RFXANK NM_003721.3(RFXANK): c.712+4A> G single nucleotide variant Benign/Likely benign rs73922830 GRCh38 Chromosome 19, 19199238: 19199238
353 RFXANK NM_003721.3(RFXANK): c.712+4A> G single nucleotide variant Benign/Likely benign rs73922830 GRCh37 Chromosome 19, 19310047: 19310047
354 RFXANK NM_003721.3(RFXANK): c.*9T> C single nucleotide variant Likely benign rs73922832 GRCh38 Chromosome 19, 19201728: 19201728
355 RFXANK NM_003721.3(RFXANK): c.*9T> C single nucleotide variant Likely benign rs73922832 GRCh37 Chromosome 19, 19312537: 19312537
356 RFXANK NM_003721.3(RFXANK): c.751C> G (p.Gln251Glu) single nucleotide variant Benign/Likely benign rs1802498 GRCh38 Chromosome 19, 19201687: 19201687
357 RFXANK NM_003721.3(RFXANK): c.751C> G (p.Gln251Glu) single nucleotide variant Benign/Likely benign rs1802498 GRCh37 Chromosome 19, 19312496: 19312496
358 RFXANK NM_003721.3(RFXANK): c.765G> A (p.Val255=) single nucleotide variant Conflicting interpretations of pathogenicity rs113406972 GRCh38 Chromosome 19, 19201701: 19201701
359 RFXANK NM_003721.3(RFXANK): c.765G> A (p.Val255=) single nucleotide variant Conflicting interpretations of pathogenicity rs113406972 GRCh37 Chromosome 19, 19312510: 19312510
360 RFXANK NM_003721.3(RFXANK): c.*12C> T single nucleotide variant Uncertain significance rs10413280 GRCh38 Chromosome 19, 19201731: 19201731
361 RFXANK NM_003721.3(RFXANK): c.*12C> T single nucleotide variant Uncertain significance rs10413280 GRCh37 Chromosome 19, 19312540: 19312540
362 RFX5 NM_000449.3(RFX5): c.1185A> G (p.Gly395=) single nucleotide variant Likely benign rs372560621 GRCh37 Chromosome 1, 151315328: 151315328
363 RFX5 NM_000449.3(RFX5): c.1185A> G (p.Gly395=) single nucleotide variant Likely benign rs372560621 GRCh38 Chromosome 1, 151342852: 151342852
364 RFX5 NM_000449.3(RFX5): c.900C> T (p.Leu300=) single nucleotide variant Benign rs2233853 GRCh37 Chromosome 1, 151315613: 151315613
365 RFX5 NM_000449.3(RFX5): c.900C> T (p.Leu300=) single nucleotide variant Benign rs2233853 GRCh38 Chromosome 1, 151343137: 151343137
366 RFX5 NM_000449.3(RFX5): c.892G> A (p.Gly298Ser) single nucleotide variant Uncertain significance rs146341254 GRCh37 Chromosome 1, 151315621: 151315621
367 RFX5 NM_000449.3(RFX5): c.892G> A (p.Gly298Ser) single nucleotide variant Uncertain significance rs146341254 GRCh38 Chromosome 1, 151343145: 151343145
368 RFX5 NM_000449.3(RFX5): c.753T> C (p.Leu251=) single nucleotide variant Benign rs1752386 GRCh37 Chromosome 1, 151316161: 151316161
369 RFX5 NM_000449.3(RFX5): c.753T> C (p.Leu251=) single nucleotide variant Benign rs1752386 GRCh38 Chromosome 1, 151343685: 151343685
370 RFX5 NM_000449.3(RFX5): c.415A> G (p.Ile139Val) single nucleotide variant Uncertain significance rs1363432272 GRCh37 Chromosome 1, 151316951: 151316951
371 RFX5 NM_000449.3(RFX5): c.415A> G (p.Ile139Val) single nucleotide variant Uncertain significance rs1363432272 GRCh38 Chromosome 1, 151344475: 151344475
372 RFXAP NM_000538.3(RFXAP): c.222G> A (p.Leu74=) single nucleotide variant Likely benign rs1460528998 GRCh37 Chromosome 13, 37393716: 37393716
373 RFXAP NM_000538.3(RFXAP): c.222G> A (p.Leu74=) single nucleotide variant Likely benign rs1460528998 GRCh38 Chromosome 13, 36819579: 36819579
374 RFXAP NM_000538.3(RFXAP): c.672T> C (p.Pro224=) single nucleotide variant Likely benign rs866409620 GRCh37 Chromosome 13, 37399636: 37399636
375 RFXAP NM_000538.3(RFXAP): c.672T> C (p.Pro224=) single nucleotide variant Likely benign rs866409620 GRCh38 Chromosome 13, 36825499: 36825499
376 RFXAP NM_000538.3(RFXAP): c.24G> A (p.Glu8=) single nucleotide variant Benign rs540467033 GRCh37 Chromosome 13, 37393518: 37393518
377 RFXAP NM_000538.3(RFXAP): c.24G> A (p.Glu8=) single nucleotide variant Benign rs540467033 GRCh38 Chromosome 13, 36819381: 36819381
378 RFXAP NM_000538.3(RFXAP): c.58C> T (p.His20Tyr) single nucleotide variant Uncertain significance rs1555302467 GRCh38 Chromosome 13, 36819415: 36819415
379 RFXAP NM_000538.3(RFXAP): c.58C> T (p.His20Tyr) single nucleotide variant Uncertain significance rs1555302467 GRCh37 Chromosome 13, 37393552: 37393552
380 CIITA NM_000246.3(CIITA): c.2343G> A (p.Ser781=) single nucleotide variant Uncertain significance rs749019138 GRCh37 Chromosome 16, 11001692: 11001692
381 CIITA NM_000246.3(CIITA): c.2343G> A (p.Ser781=) single nucleotide variant Uncertain significance rs749019138 GRCh38 Chromosome 16, 10907835: 10907835
382 CIITA NM_000246.3(CIITA): c.2448C> T (p.Ala816=) single nucleotide variant Benign rs112250421 GRCh37 Chromosome 16, 11001797: 11001797
383 CIITA NM_000246.3(CIITA): c.2448C> T (p.Ala816=) single nucleotide variant Benign rs112250421 GRCh38 Chromosome 16, 10907940: 10907940
384 CIITA NM_000246.3(CIITA): c.2892G> A (p.Leu964=) single nucleotide variant Likely benign rs200599265 GRCh37 Chromosome 16, 11009430: 11009430
385 CIITA NM_000246.3(CIITA): c.2892G> A (p.Leu964=) single nucleotide variant Likely benign rs200599265 GRCh38 Chromosome 16, 10915573: 10915573
386 CIITA NM_000246.3(CIITA): c.520G> A (p.Gly174Arg) single nucleotide variant Benign rs8046121 GRCh38 Chromosome 16, 10902076: 10902076
387 CIITA NM_000246.3(CIITA): c.520G> A (p.Gly174Arg) single nucleotide variant Benign rs8046121 GRCh37 Chromosome 16, 10995933: 10995933
388 CIITA NM_000246.3(CIITA): c.826G> A (p.Gly276Ser) single nucleotide variant Uncertain significance rs142461515 GRCh37 Chromosome 16, 10997641: 10997641
389 CIITA NM_000246.3(CIITA): c.826G> A (p.Gly276Ser) single nucleotide variant Uncertain significance rs142461515 GRCh38 Chromosome 16, 10903784: 10903784
390 CIITA NM_000246.3(CIITA): c.494C> G (p.Thr165Ser) single nucleotide variant Benign rs34648899 GRCh38 Chromosome 16, 10902050: 10902050
391 CIITA NM_000246.3(CIITA): c.494C> G (p.Thr165Ser) single nucleotide variant Benign rs34648899 GRCh37 Chromosome 16, 10995907: 10995907
392 CIITA NM_000246.3(CIITA): c.1241G> T (p.Arg414Leu) single nucleotide variant Uncertain significance rs572327540 GRCh38 Chromosome 16, 10906733: 10906733
393 CIITA NM_000246.3(CIITA): c.1241G> T (p.Arg414Leu) single nucleotide variant Uncertain significance rs572327540 GRCh37 Chromosome 16, 11000590: 11000590
394 CIITA NM_000246.3(CIITA): c.1429C> A (p.Leu477Ile) single nucleotide variant Benign rs150205851 GRCh37 Chromosome 16, 11000778: 11000778
395 CIITA NM_000246.3(CIITA): c.1429C> A (p.Leu477Ile) single nucleotide variant Benign rs150205851 GRCh38 Chromosome 16, 10906921: 10906921
396 CIITA NM_000246.3(CIITA): c.1579G> C (p.Gly527Arg) single nucleotide variant Uncertain significance rs35451230 GRCh38 Chromosome 16, 10907071: 10907071
397 CIITA NM_000246.3(CIITA): c.1579G> C (p.Gly527Arg) single nucleotide variant Uncertain significance rs35451230 GRCh37 Chromosome 16, 11000928: 11000928
398 RFX5 NM_000449.3(RFX5): c.1039T> C (p.Ser347Pro) single nucleotide variant Uncertain significance rs199761884 GRCh37 Chromosome 1, 151315474: 151315474
399 RFX5 NM_000449.3(RFX5): c.1039T> C (p.Ser347Pro) single nucleotide variant Uncertain significance rs199761884 GRCh38 Chromosome 1, 151342998: 151342998
400 RFX5 NM_000449.3(RFX5): c.1323C> T (p.Ala441=) single nucleotide variant Likely benign rs1233467888 GRCh38 Chromosome 1, 151342714: 151342714
401 RFX5 NM_000449.3(RFX5): c.1323C> T (p.Ala441=) single nucleotide variant Likely benign rs1233467888 GRCh37 Chromosome 1, 151315190: 151315190
402 RFXAP NM_000538.3(RFXAP): c.120_125dup (p.Ser42_Gln43insAlaSer) duplication Uncertain significance rs763202512 GRCh37 Chromosome 13, 37393614: 37393619
403 RFXAP NM_000538.3(RFXAP): c.120_125dup (p.Ser42_Gln43insAlaSer) duplication Uncertain significance rs763202512 GRCh38 Chromosome 13, 36819477: 36819482
404 RFXAP NM_000538.3(RFXAP): c.297G> C (p.Pro99=) single nucleotide variant Likely benign rs183370317 GRCh37 Chromosome 13, 37393791: 37393791
405 RFXAP NM_000538.3(RFXAP): c.297G> C (p.Pro99=) single nucleotide variant Likely benign rs183370317 GRCh38 Chromosome 13, 36819654: 36819654
406 RFXAP NM_000538.3(RFXAP): c.699A> G (p.Gln233=) single nucleotide variant Likely benign rs202180471 GRCh37 Chromosome 13, 37399663: 37399663
407 RFXAP NM_000538.3(RFXAP): c.699A> G (p.Gln233=) single nucleotide variant Likely benign rs202180471 GRCh38 Chromosome 13, 36825526: 36825526
408 CIITA NM_000246.3(CIITA): c.170C> A (p.Ala57Asp) single nucleotide variant Uncertain significance rs1555500356 GRCh38 Chromosome 16, 10895399: 10895399
409 CIITA NM_000246.3(CIITA): c.170C> A (p.Ala57Asp) single nucleotide variant Uncertain significance rs1555500356 GRCh37 Chromosome 16, 10989256: 10989256
410 CIITA NM_000246.3(CIITA): c.629-9C> T single nucleotide variant Likely benign rs372749477 GRCh38 Chromosome 16, 10902649: 10902649
411 CIITA NM_000246.3(CIITA): c.629-9C> T single nucleotide variant Likely benign rs372749477 GRCh37 Chromosome 16, 10996506: 10996506
412 CIITA NM_000246.3(CIITA): c.691C> T (p.Pro231Ser) single nucleotide variant Benign rs147472574 GRCh38 Chromosome 16, 10902720: 10902720
413 CIITA NM_000246.3(CIITA): c.691C> T (p.Pro231Ser) single nucleotide variant Benign rs147472574 GRCh37 Chromosome 16, 10996577: 10996577
414 CIITA NM_000246.3(CIITA): c.2889-5C> T single nucleotide variant Likely benign rs1555507408 GRCh38 Chromosome 16, 10915565: 10915565
415 CIITA NM_000246.3(CIITA): c.2889-5C> T single nucleotide variant Likely benign rs1555507408 GRCh37 Chromosome 16, 11009422: 11009422
416 CIITA NM_000246.3(CIITA): c.370C> A (p.Pro124Thr) single nucleotide variant Benign rs77169590 GRCh37 Chromosome 16, 10992793: 10992793
417 CIITA NM_000246.3(CIITA): c.370C> A (p.Pro124Thr) single nucleotide variant Benign rs77169590 GRCh38 Chromosome 16, 10898936: 10898936
418 CIITA NM_000246.3(CIITA): c.1590C> T (p.Ala530=) single nucleotide variant Likely benign rs765568149 GRCh38 Chromosome 16, 10907082: 10907082
419 CIITA NM_000246.3(CIITA): c.592G> A (p.Gly198Ser) single nucleotide variant Likely benign rs148279688 GRCh37 Chromosome 16, 10996005: 10996005
420 CIITA NM_000246.3(CIITA): c.592G> A (p.Gly198Ser) single nucleotide variant Likely benign rs148279688 GRCh38 Chromosome 16, 10902148: 10902148
421 CIITA NM_000246.3(CIITA): c.1491C> T (p.Ile497=) single nucleotide variant Benign rs138250353 GRCh38 Chromosome 16, 10906983: 10906983
422 CIITA NM_000246.3(CIITA): c.1491C> T (p.Ile497=) single nucleotide variant Benign rs138250353 GRCh37 Chromosome 16, 11000840: 11000840
423 CIITA NM_000246.3(CIITA): c.1590C> T (p.Ala530=) single nucleotide variant Likely benign rs765568149 GRCh37 Chromosome 16, 11000939: 11000939
424 CIITA NM_000246.3(CIITA): c.2099G> A (p.Arg700Gln) single nucleotide variant Uncertain significance rs749350138 GRCh38 Chromosome 16, 10907591: 10907591
425 CIITA NM_000246.3(CIITA): c.2099G> A (p.Arg700Gln) single nucleotide variant Uncertain significance rs749350138 GRCh37 Chromosome 16, 11001448: 11001448
426 CIITA NM_000246.3(CIITA): c.3352G> A (p.Glu1118Lys) single nucleotide variant Uncertain significance rs1555509348 GRCh38 Chromosome 16, 10923262: 10923262
427 CIITA NM_000246.3(CIITA): c.3352G> A (p.Glu1118Lys) single nucleotide variant Uncertain significance rs1555509348 GRCh37 Chromosome 16, 11017119: 11017119
428 CIITA NM_000246.3(CIITA): c.286G> A (p.Ala96Thr) single nucleotide variant Uncertain significance rs149253747 GRCh37 Chromosome 16, 10989612: 10989612
429 CIITA NM_000246.3(CIITA): c.286G> A (p.Ala96Thr) single nucleotide variant Uncertain significance rs149253747 GRCh38 Chromosome 16, 10895755: 10895755
430 CIITA NM_000246.3(CIITA): c.2478A> G (p.Val826=) single nucleotide variant Likely benign rs376456953 GRCh38 Chromosome 16, 10907970: 10907970
431 CIITA NM_000246.3(CIITA): c.2478A> G (p.Val826=) single nucleotide variant Likely benign rs376456953 GRCh37 Chromosome 16, 11001827: 11001827
432 CIITA NM_000246.3(CIITA): c.1068G> A (p.Pro356=) single nucleotide variant Benign rs140486686 GRCh37 Chromosome 16, 11000417: 11000417
433 CIITA NM_000246.3(CIITA): c.1068G> A (p.Pro356=) single nucleotide variant Benign rs140486686 GRCh38 Chromosome 16, 10906560: 10906560
434 CIITA NM_000246.3(CIITA): c.1559C> T (p.Ala520Val) single nucleotide variant Uncertain significance rs561841137 GRCh37 Chromosome 16, 11000908: 11000908
435 CIITA NM_000246.3(CIITA): c.1559C> T (p.Ala520Val) single nucleotide variant Uncertain significance rs561841137 GRCh38 Chromosome 16, 10907051: 10907051
436 CIITA NM_000246.3(CIITA): c.1572C> T (p.Ser524=) single nucleotide variant Likely benign rs745753805 GRCh37 Chromosome 16, 11000921: 11000921
437 CIITA NM_000246.3(CIITA): c.1572C> T (p.Ser524=) single nucleotide variant Likely benign rs745753805 GRCh38 Chromosome 16, 10907064: 10907064
438 CIITA NM_000246.3(CIITA): c.2026C> T (p.Gln676Ter) single nucleotide variant Pathogenic rs901844850 GRCh37 Chromosome 16, 11001375: 11001375
439 CIITA NM_000246.3(CIITA): c.2026C> T (p.Gln676Ter) single nucleotide variant Pathogenic rs901844850 GRCh38 Chromosome 16, 10907518: 10907518
440 CIITA NM_000246.3(CIITA): c.2178C> T (p.Gly726=) single nucleotide variant Likely benign rs150014874 GRCh37 Chromosome 16, 11001527: 11001527
441 CIITA NM_000246.3(CIITA): c.2178C> T (p.Gly726=) single nucleotide variant Likely benign rs150014874 GRCh38 Chromosome 16, 10907670: 10907670
442 CIITA NM_000246.3(CIITA): c.3326C> G (p.Thr1109Arg) single nucleotide variant Uncertain significance rs1013962316 GRCh37 Chromosome 16, 11017093: 11017093
443 CIITA NM_000246.3(CIITA): c.3326C> G (p.Thr1109Arg) single nucleotide variant Uncertain significance rs1013962316 GRCh38 Chromosome 16, 10923236: 10923236
444 RFXANK NM_003721.3(RFXANK): c.623C> T (p.Ala208Val) single nucleotide variant Uncertain significance rs140748502 GRCh38 Chromosome 19, 19198715: 19198715
445 RFXANK NM_003721.3(RFXANK): c.623C> T (p.Ala208Val) single nucleotide variant Uncertain significance rs140748502 GRCh37 Chromosome 19, 19309524: 19309524
446 RFXANK NM_003721.3(RFXANK): c.726C> G (p.Ile242Met) single nucleotide variant Uncertain significance rs200043123 GRCh38 Chromosome 19, 19201662: 19201662
447 RFXANK NM_003721.3(RFXANK): c.726C> G (p.Ile242Met) single nucleotide variant Uncertain significance rs200043123 GRCh37 Chromosome 19, 19312471: 19312471
448 RFXANK NM_003721.3(RFXANK): c.445G> A (p.Asp149Asn) single nucleotide variant Likely benign rs115220304 GRCh37 Chromosome 19, 19308922: 19308922
449 RFXANK NM_003721.3(RFXANK): c.445G> A (p.Asp149Asn) single nucleotide variant Likely benign rs115220304 GRCh38 Chromosome 19, 19198113: 19198113
450 RFXANK NM_003721.3(RFXANK): c.95C> T (p.Ala32Val) single nucleotide variant Conflicting interpretations of pathogenicity rs114064359 GRCh38 Chromosome 19, 19194041: 19194041
451 RFXANK NM_003721.3(RFXANK): c.95C> T (p.Ala32Val) single nucleotide variant Conflicting interpretations of pathogenicity rs114064359 GRCh37 Chromosome 19, 19304850: 19304850
452 RFXANK NM_003721.3(RFXANK): c.332G> A (p.Arg111Gln) single nucleotide variant Uncertain significance rs752109217 GRCh37 Chromosome 19, 19308055: 19308055
453 RFXANK NM_003721.3(RFXANK): c.332G> A (p.Arg111Gln) single nucleotide variant Uncertain significance rs752109217 GRCh38 Chromosome 19, 19197246: 19197246
454 RFXANK NM_003721.3(RFXANK): c.654C> T (p.Thr218=) single nucleotide variant Likely benign rs8862 GRCh37 Chromosome 19, 19309985: 19309985
455 RFXANK NM_003721.3(RFXANK): c.654C> T (p.Thr218=) single nucleotide variant Likely benign rs8862 GRCh38 Chromosome 19, 19199176: 19199176
456 RFXANK NM_003721.3(RFXANK): c.708G> T (p.Arg236=) single nucleotide variant Likely benign rs781614267 GRCh37 Chromosome 19, 19310039: 19310039
457 RFXANK NM_003721.3(RFXANK): c.708G> T (p.Arg236=) single nucleotide variant Likely benign rs781614267 GRCh38 Chromosome 19, 19199230: 19199230
458 RFXANK RFXANK, LEU195PRO undetermined variant Pathogenic
459 RFX5 NM_000449.3(RFX5): c.547T> C (p.Ser183Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 151316681: 151316681
460 RFX5 NM_000449.3(RFX5): c.547T> C (p.Ser183Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 151344205: 151344205
461 RFX5 NM_000449.3(RFX5): c.1688C> T (p.Ser563Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 151314825: 151314825
462 RFX5 NM_000449.3(RFX5): c.1688C> T (p.Ser563Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 151342349: 151342349
463 RFX5 NM_000449.3(RFX5): c.1639G> A (p.Gly547Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 151314874: 151314874
464 RFX5 NM_000449.3(RFX5): c.1639G> A (p.Gly547Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 151342398: 151342398
465 RFX5 NM_000449.3(RFX5): c.1415A> T (p.Lys472Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 151315098: 151315098
466 RFX5 NM_000449.3(RFX5): c.1415A> T (p.Lys472Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 151342622: 151342622
467 RFX5 NM_000449.3(RFX5): c.1409G> A (p.Arg470Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 151315104: 151315104
468 RFX5 NM_000449.3(RFX5): c.1409G> A (p.Arg470Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 151342628: 151342628
469 RFX5 NM_000449.3(RFX5): c.1838delC (p.Ala613Glufs) deletion Uncertain significance GRCh37 Chromosome 1, 151314675: 151314675
470 RFX5 NM_000449.3(RFX5): c.1838delC (p.Ala613Glufs) deletion Uncertain significance GRCh38 Chromosome 1, 151342199: 151342199
471 RFX5 NM_000449.3(RFX5): c.1805G> A (p.Ser602Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 151342232: 151342232
472 RFX5 NM_000449.3(RFX5): c.1805G> A (p.Ser602Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 151314708: 151314708
473 RFXAP NM_000538.3(RFXAP): c.302G> C (p.Gly101Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 36819659: 36819659
474 RFXAP NM_000538.3(RFXAP): c.302G> C (p.Gly101Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 37393796: 37393796
475 CIITA NM_000246.3(CIITA): c.1304G> A (p.Arg435Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 11000653: 11000653
476 CIITA NM_000246.3(CIITA): c.1304G> A (p.Arg435Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10906796: 10906796
477 CIITA NM_000246.3(CIITA): c.1856A> G (p.Gln619Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 11001205: 11001205
478 CIITA NM_000246.3(CIITA): c.1856A> G (p.Gln619Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10907348: 10907348
479 RFXAP NM_000538.3(RFXAP): c.788G> A (p.Arg263Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 37401859: 37401859
480 RFXAP NM_000538.3(RFXAP): c.788G> A (p.Arg263Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 36827722: 36827722
481 RFXAP NM_000538.3(RFXAP): c.265G> C (p.Glu89Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 37393759: 37393759
482 RFXAP NM_000538.3(RFXAP): c.127C> T (p.Gln43Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 13, 37393621: 37393621
483 RFXAP NM_000538.3(RFXAP): c.127C> T (p.Gln43Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 13, 36819484: 36819484
484 RFXAP NM_000538.3(RFXAP): c.265G> C (p.Glu89Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 36819622: 36819622
485 RFXAP NM_000538.3(RFXAP): c.456G> C (p.Gln152His) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 37393950: 37393950
486 RFXAP NM_000538.3(RFXAP): c.456G> C (p.Gln152His) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 36819813: 36819813
487 RFXAP NM_000538.3(RFXAP): c.467A> G (p.Gln156Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 37393961: 37393961
488 RFXAP NM_000538.3(RFXAP): c.467A> G (p.Gln156Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 36819824: 36819824
489 RFXAP NM_000538.3(RFXAP): c.709-7_709-4delTTCT deletion Uncertain significance GRCh38 Chromosome 13, 36827636: 36827639
490 RFXAP NM_000538.3(RFXAP): c.709-7_709-4delTTCT deletion Uncertain significance GRCh37 Chromosome 13, 37401773: 37401776
491 CIITA NM_000246.3(CIITA): c.307C> A (p.Gln103Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 10992538: 10992538
492 CIITA NM_000246.3(CIITA): c.307C> A (p.Gln103Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10898681: 10898681
493 CIITA NM_000246.3(CIITA): c.413T> C (p.Val138Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 10992836: 10992836
494 CIITA NM_000246.3(CIITA): c.413T> C (p.Val138Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10898979: 10898979
495 CIITA NM_000246.3(CIITA): c.566C> T (p.Ala189Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 10995979: 10995979
496 CIITA NM_000246.3(CIITA): c.566C> T (p.Ala189Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10902122: 10902122
497 CIITA NM_000246.3(CIITA): c.1444G> A (p.Glu482Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 11000793: 11000793
498 CIITA NM_000246.3(CIITA): c.1444G> A (p.Glu482Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10906936: 10906936
499 CIITA NM_000246.3(CIITA): c.2059A> G (p.Thr687Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10907551: 10907551
500 CIITA NM_000246.3(CIITA): c.2059A> G (p.Thr687Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 11001408: 11001408
501 CIITA NM_000246.3(CIITA): c.565G> A (p.Ala189Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10902121: 10902121
502 CIITA NM_000246.3(CIITA): c.565G> A (p.Ala189Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 10995978: 10995978
503 CIITA NM_000246.3(CIITA): c.773-9C> G single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 10997579: 10997579
504 CIITA NM_000246.3(CIITA): c.773-9C> G single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10903722: 10903722
505 CIITA NM_000246.3(CIITA): c.1556C> T (p.Pro519Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 11000905: 11000905
506 CIITA NM_000246.3(CIITA): c.1556C> T (p.Pro519Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10907048: 10907048
507 CIITA NM_000246.3(CIITA): c.1702G> A (p.Gly568Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 11001051: 11001051
508 CIITA NM_000246.3(CIITA): c.1702G> A (p.Gly568Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10907194: 10907194
509 CIITA NM_000246.3(CIITA): c.3311C> T (p.Thr1104Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 11016341: 11016341
510 CIITA NM_000246.3(CIITA): c.3311C> T (p.Thr1104Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10922484: 10922484
511 RFXANK NM_003721.3(RFXANK): c.187G> A (p.Ala63Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 19304942: 19304942
512 RFXANK NM_003721.3(RFXANK): c.187G> A (p.Ala63Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 19194133: 19194133
513 RFXANK NM_003721.3(RFXANK): c.331C> T (p.Arg111Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 19308054: 19308054
514 RFXANK NM_003721.3(RFXANK): c.331C> T (p.Arg111Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 19197245: 19197245
515 RFXAP NM_000538.3(RFXAP): c.573T> A (p.Thr191=) single nucleotide variant Uncertain significance GRCh37 Chromosome 13, 37394067: 37394067
516 RFXAP NM_000538.3(RFXAP): c.573T> A (p.Thr191=) single nucleotide variant Uncertain significance GRCh38 Chromosome 13, 36819930: 36819930
517 RFXANK NM_003721.3(RFXANK): c.337+5G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 19308065: 19308065
518 RFXANK NM_003721.3(RFXANK): c.337+5G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 19197256: 19197256
519 CIITA NM_000246.3(CIITA): c.44A> G (p.Glu15Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10877374: 10877374
520 CIITA NM_000246.3(CIITA): c.44A> G (p.Glu15Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 10971231: 10971231
521 CIITA NM_000246.3(CIITA): c.1183G> A (p.Gly395Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10906675: 10906675
522 CIITA NM_000246.3(CIITA): c.1183G> A (p.Gly395Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 11000532: 11000532
523 CIITA NM_000246.3(CIITA): c.1643G> T (p.Arg548Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 11000992: 11000992
524 CIITA NM_000246.3(CIITA): c.1643G> T (p.Arg548Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10907135: 10907135
525 CIITA NM_000246.3(CIITA): c.2544G> A (p.Leu848=) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10908036: 10908036
526 CIITA NM_000246.3(CIITA): c.2544G> A (p.Leu848=) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 11001893: 11001893
527 CIITA NM_000246.3(CIITA): c.2942C> T (p.Thr981Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10915623: 10915623
528 CIITA NM_000246.3(CIITA): c.2942C> T (p.Thr981Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 11009480: 11009480
529 CIITA NM_000246.3(CIITA): c.3217T> A (p.Ser1073Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 11016091: 11016091
530 CIITA NM_000246.3(CIITA): c.3217T> A (p.Ser1073Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10922234: 10922234
531 RFXANK NM_003721.3(RFXANK): c.266_268delTAG (p.Leu89_Asp90delinsHis) deletion Uncertain significance GRCh37 Chromosome 19, 19307850: 19307852
532 RFXANK NM_003721.3(RFXANK): c.266_268delTAG (p.Leu89_Asp90delinsHis) deletion Uncertain significance GRCh38 Chromosome 19, 19197041: 19197043
533 RFXANK NM_003721.3(RFXANK): c.271_271+1insCTGCC insertion Pathogenic GRCh37 Chromosome 19, 19307855: 19307856
534 RFXANK NM_003721.3(RFXANK): c.271_271+1insCTGCC insertion Pathogenic GRCh38 Chromosome 19, 19197046: 19197047
535 RFXANK NM_003721.3(RFXANK): c.612A> G (p.Lys204=) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 19309513: 19309513
536 RFXANK NM_003721.3(RFXANK): c.612A> G (p.Lys204=) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 19198704: 19198704
537 CIITA NM_000246.3(CIITA): c.929A> T (p.Asn310Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 10997744: 10997744
538 CIITA NM_000246.3(CIITA): c.929A> T (p.Asn310Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10903887: 10903887
539 CIITA NM_000246.3(CIITA): c.931A> G (p.Met311Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 10997746: 10997746
540 CIITA NM_000246.3(CIITA): c.931A> G (p.Met311Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 10903889: 10903889

Expression for Bare Lymphocyte Syndrome, Type Ii

Search GEO for disease gene expression data for Bare Lymphocyte Syndrome, Type Ii.

Pathways for Bare Lymphocyte Syndrome, Type Ii

Pathways related to Bare Lymphocyte Syndrome, Type Ii according to GeneCards Suite gene sharing:

(showing 13, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 CARD9 CIITA HLA-A HLA-DQA1 HLA-DRA TAP2
2
Show member pathways
12.96 CIITA HLA-A HLA-DQA1 HLA-DRA TRIM22
3
Show member pathways
12.5 CIITA HLA-A HLA-DQA1 HLA-DRA RFX5 RFXANK
4 12.2 CARD9 CIITA TAP2
5
Show member pathways
12.15 CIITA HLA-A HLA-DQA1 HLA-DRA TRIM22
6 11.99 HLA-A HLA-DQA1 HLA-DRA
7
Show member pathways
11.88 CIITA HLA-DQA1 HLA-DRA
8 11.8 HLA-A HLA-DQA1 HLA-DRA TAP2
9 11.71 HLA-A HLA-DQA1 HLA-DRA
10 11.42 CARD9 CIITA HLA-DQA1 HLA-DRA RFX5 RFXANK
11 11.33 HLA-DQA1 HLA-DRA
12 10.92 CIITA RFX5 RFXANK RFXAP TAP2
13 10.8 HLA-A TAP2

GO Terms for Bare Lymphocyte Syndrome, Type Ii

Cellular components related to Bare Lymphocyte Syndrome, Type Ii according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 endocytic vesicle membrane GO:0030666 9.37 HLA-DQA1 HLA-DRA
2 transport vesicle membrane GO:0030658 9.32 HLA-DQA1 HLA-DRA
3 clathrin-coated endocytic vesicle membrane GO:0030669 9.26 HLA-DQA1 HLA-DRA
4 MHC class II protein complex GO:0042613 9.16 HLA-DQA1 HLA-DRA
5 ER to Golgi transport vesicle membrane GO:0012507 9.13 HLA-A HLA-DQA1 HLA-DRA
6 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.8 HLA-A HLA-DQA1 HLA-DRA

Biological processes related to Bare Lymphocyte Syndrome, Type Ii according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.65 CARD9 HLA-A HLA-DQA1 HLA-DRA TAP2
2 immune response GO:0006955 9.55 CIITA HLA-A HLA-DQA1 HLA-DRA TRIM22
3 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.4 HLA-A TAP2
4 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.37 HLA-A TAP2
5 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.32 HLA-DQA1 HLA-DRA
6 antigen processing and presentation GO:0019882 9.13 HLA-A HLA-DQA1 HLA-DRA
7 interferon-gamma-mediated signaling pathway GO:0060333 9.02 CIITA HLA-A HLA-DQA1 HLA-DRA TRIM22

Molecular functions related to Bare Lymphocyte Syndrome, Type Ii according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 MHC class II receptor activity GO:0032395 8.96 HLA-DQA1 HLA-DRA
2 peptide antigen binding GO:0042605 8.8 HLA-A HLA-DQA1 HLA-DRA

Sources for Bare Lymphocyte Syndrome, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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