| SCID Due to ADA Deficiency, Early-Onset |
C1863236 |
ADA
|
Causal
Pathogenic evidence from ClinVar
|
1284479, 1346349, 1680289, 1974554, 2166947, 2758612, 2773932, 2783588, 3182793, 3475710, 3839802, 6208479, 7554472, 7599635, 8051429, 8178821, 8227344, 8258146, 8299233, 8401541, 8589684, 8614422, 8673127, 9108404, 9225964, 9361033, 9414266, 9758612, 9806422, 10200056, 11160213, 11313286, 14499267, 16276484, 16825284, 17185467, 18952502, 19179314, 19665771, 20544538, 21624848, 21664875, 22447032, 22764473, 22968453, 23260757, 25525159, 25875700, 25954555, 26255240, 26376800, 27095930, 27129325, 28266921 |
ClinVar |
| Severe Combined Immunodeficiency |
C0085110 |
ADA
|
Causal
Pathogenic evidence from ClinVar
|
9758612, 19179314, 21664875, 22447032, 26255240, 27604308 |
ClinVar |
|
AK2
|
Causal
Pathogenic evidence from ClinVar
|
19043416, 19043417 |
ClinVar |
|
BCL11B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CD247
|
Causal
Pathogenic evidence from ClinVar
|
25688246 |
ClinVar |
|
CORO1A
|
Causal
Pathogenic evidence from ClinVar
|
19097825 |
ClinVar |
|
DCLRE1C
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IL2RG
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IL7R
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
JAK3
|
Causal
Pathogenic evidence from ClinVar
|
15220007, 15661026, 18559588 |
ClinVar |
|
LIG4
|
Causal
Pathogenic evidence from ClinVar
|
27537055 |
ClinVar |
|
PGM3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Severe combined immunodeficiency due to adenosine deaminase deficiency |
277, C0392607 |
ADA
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Combined immunodeficiency |
C0494261 |
AK2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
BCL11B
|
Causal
Pathogenic evidence from ClinVar
|
27959755 |
ClinVar |
|
CARD11
|
Causal
Pathogenic evidence from ClinVar
|
25352053 |
ClinVar |
|
CARMIL2
|
Causal
Pathogenic evidence from ClinVar
|
28112205 |
ClinVar |
|
CD27
|
Causal
Pathogenic evidence from ClinVar
|
25843314 |
ClinVar |
|
CD3G
|
Causal
Pathogenic evidence from ClinVar
|
17277165 |
ClinVar |
|
CD70
|
Causal
Pathogenic evidence from ClinVar
|
29434583 |
ClinVar |
|
CORO1A
|
Causal
Pathogenic evidence from ClinVar
|
19097825 |
ClinVar |
|
DCLRE1C
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IKBKB
|
Causal
Pathogenic evidence from ClinVar
|
25216719 |
ClinVar |
|
IL2RG
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LCK
|
Causal
Pathogenic evidence from ClinVar
|
11351273 |
ClinVar |
|
LIG4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NHEJ1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ORAI1
|
Causal
Pathogenic evidence from ClinVar
|
20004786 |
ClinVar |
|
PGM3
|
Causal
Pathogenic evidence from ClinVar
|
24931394 |
ClinVar |
| Severe combined immunodeficiency due to CARD11 deficiency |
357237 |
CARD11
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Severe combined immunodeficiency due to CARMIL2 deficiency |
542301 |
CARMIL2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta |
169160 |
CD247
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Severe combined immunodeficiency due to CORO1A deficiency |
228003 |
CORO1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Severe combined immunodeficiency due to CTPS1 deficiency |
420573, C4706524 |
CTPS1
|
Causal
Pathogenic evidence from ClinVar
|
9536098 |
ClinVar |
| Athabaskan severe combined immunodeficiency |
C1865372 |
DCLRE1C
|
Causal
Pathogenic evidence from ClinVar
|
12055248 |
ClinVar |
| Severe combined immunodeficiency due to DCLRE1C deficiency |
275 |
DCLRE1C
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE |
C1865371 |
DCLRE1C
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| SEVERE COMBINED IMMUNODEFICIENCY, PARTIAL |
C1865373 |
DCLRE1C
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Severe combined immunodeficiency due to FOXN1 deficiency |
169095 |
FOXN1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Combined immunodeficiency due to GINS1 deficiency |
505227 |
GINS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Severe combined immunodeficiency due to IKK2 deficiency |
397787 |
IKBKB
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| T-B+ severe combined immunodeficiency due to gamma chain deficiency |
276 |
IL2RG
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive |
C1832322 |
JAK3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative |
C1833275 |
JAK3
|
Causal
Pathogenic evidence from ClinVar
|
7481768, 7659163, 9354668, 9753072, 10982185, 14615376 |
ClinVar |
| T-B+ severe combined immunodeficiency due to JAK3 deficiency |
35078 |
JAK3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Severe combined immunodeficiency due to LAT deficiency |
504523 |
LAT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Severe combined immunodeficiency due to LCK deficiency |
280142 |
LCK
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Combined immunodeficiency due to ORAI1 deficiency |
317428 |
ORAI1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
