Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_002229 | Disease | p.ALA179ASP | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002215 | Disease | p.ALA83ASP | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002233 | Disease | p.ALA215THR | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002240 | Disease | p.ALA329VAL | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002226 | Disease | p.ARG156CYS | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002231 | Disease | p.ARG211CYS | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002218 | Disease | p.ARG101GLN | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002222 | Polymorphism | p.ARG142GLN | N/A |
Swiss-Prot | VAR_002223 | Disease | p.ARG149GLN | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002227 | Disease | p.ARG156HIS | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002232 | Disease | p.ARG211HIS | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002216 | Disease | p.ARG101LEU | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002217 | Disease | p.ARG101TRP | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002224 | Disease | p.ARG149TRP | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002213 | Disease | p.ARG76TRP | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002209 | Polymorphism | p.ASP8ASN | N/A |
Swiss-Prot | VAR_002230 | Disease | p.GLN199PRO | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002211 | Disease | p.GLY20ARG | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002234 | Disease | p.GLY216ARG | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002212 | Disease | p.GLY74CYS | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002221 | Disease | p.GLY140GLU | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002210 | Disease | p.HIS15ASP | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002239 | Disease | p.LEU304ARG | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002225 | Polymorphism | p.LEU152MET | N/A |
Swiss-Prot | VAR_002219 | Disease | p.LEU107PRO | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
dbSNP | rs11555566 | Polymorphism | p.LYS80ARG | N/A |
Swiss-Prot | VAR_002238 | Disease | p.PRO297GLN | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002236 | Disease | p.PRO274LEU | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002237 | Disease | p.SER291LEU | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002235 | Polymorphism | p.THR233ILE | N/A |
Swiss-Prot | VAR_002220 | Disease | p.VAL129MET | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
Swiss-Prot | VAR_002228 | Disease | p.VAL177MET | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine d |
OMIM | 608958.0015 | Disease | p.ALA215THR | ADENOSINE DEAMINASE DEFICIENCY, PARTIAL |
OMIM | 608958.0006 | Disease | p.ALA329VAL | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO |
OMIM | 608958.0018 | Disease | p.ARG156CYS | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO |
OMIM | 608958.0014 | Disease | p.ARG211CYS | ADENOSINE DEAMINASE DEFICIENCY, PARTIAL |
OMIM | 608958.0003 | Disease | p.ARG101GLN | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO |
OMIM | 608958.0011 | Disease | p.ARG149GLN | ADENOSINE DEAMINASE DEFICIENCY, PARTIAL |
OMIM | 608958.0032 | Disease | p.ARG156HIS | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO |
OMIM | 608958.0004 | Disease | p.ARG211HIS | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO |
OMIM | 608958.0002 | Disease | p.ARG101TRP | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO |
OMIM | 608958.0010 | Disease | p.ARG76TRP | ADENOSINE DEAMINASE DEFICIENCY, PARTIAL |
OMIM | 608958.0021 | Disease | p.ASP8ASN | ADENOSINE DEAMINASE 2 ALLOZYME |
OMIM | 608958.0016 | Disease | p.GLY216ARG | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO |
OMIM | 608958.0025 | Disease | p.GLY74VAL | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO |
OMIM | 608958.0005 | Disease | p.LEU304ARG | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO |
OMIM | 608958.0027 | Disease | p.LEU152MET | ADENOSINE DEAMINASE DEFICIENCY, PARTIAL |
OMIM | 608958.0013 | Disease | p.LEU107PRO | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO |
OMIM | 608958.0029 | Disease | p.LEU106VAL | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO |
OMIM | 608958.0001 | Disease | p.LYS80ARG | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE |
OMIM | 608958.0009 | Disease | p.PRO297GLN | ADENOSINE DEAMINASE DEFICIENCY, PARTIAL |
OMIM | 608958.0012 | Disease | p.PRO274LEU | ADENOSINE DEAMINASE DEFICIENCY, PARTIAL |
OMIM | 608958.0019 | Disease | p.SER291LEU | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO |
OMIM | 608958.0028 | Disease | p.THR233ILE | ADENOSINE DEAMINASE DEFICIENCY, PARTIAL |
OMIM | 608958.0029 | Disease | p.TYR97CYS | SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,||B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENO |