Fabry:Mapping point mutations/OMIM data
From Bioinformatikpedia
Allelic variants
<figtable id="tab:omim_all"> All allelic variants found in OMIM
| Number | Phenotype | Mutation | dbSNP |
| .0001 | FABRY DISEASE | GLA, ARG356TRP | rs104894827 |
| .0002 | FABRY DISEASE | GLA, EX3DEL | - |
| .0003 | FABRY DISEASE, CARDIAC VARIANT FABRY DISEASE, INCLUDED | GLA, ARG301GLN | rs104894828 |
| .0004 | FABRY DISEASE | GLA, TRP44TER | rs104894829 |
| .0005 | FABRY DISEASE, CARDIAC VARIANT | GLA, MET296VAL | rs104894830 |
| .0006 | FABRY DISEASE | GLA, EX4DEL | - |
| .0007 | FABRY DISEASE | GLA, IVS6DS, G-T, +1 | - |
| .0008 | FABRY DISEASE, CARDIAC VARIANT | GLA, GLN279GLU | rs28935485 |
| .0009 | FABRY DISEASE | GLA, PRO40SER | rs104894831 |
| .0010 | FABRY DISEASE | GLA, GLY328ARG | rs104894832 |
| .0011 | FABRY DISEASE | GLA, GLU66GLN | rs104894833 |
| .0011 | FABRY DISEASE | GLA, ARG112CYS | rs104894834 |
| .0012 | FABRY DISEASE | GLA, ASN34SER | rs104894835 |
| .0013 | FABRY DISEASE | GLA, CYS56GLY | rs104894836 |
| .0014 | FABRY DISEASE | GLA, PRO146SER | rs104894837 |
| .0015 | FABRY DISEASE | GLA, ALA156THR | rs28935195 |
| .0016 | FABRY DISEASE | GLA, TRP162ARG | rs28935196 |
| .0017 | FABRY DISEASE | GLA, CYS202TRP | rs104894838 |
| .0018 | FABRY DISEASE | GLA, ASN215SER | rs28935197 |
| .0019 | FABRY DISEASE | GLA, ARG227GLN | rs104894840 |
| .0020 | FABRY DISEASE | GLA, ARG227TER | rs104894841 |
| .0021 | FABRY DISEASE | GLA, ASP264VAL | rs28935486 |
| .0022 | FABRY DISEASE | GLA, ASP266VAL | rs28935487 |
| .0023 | FABRY DISEASE | GLA, VAL269ALA | rs28935488 |
| .0024 | FABRY DISEASE | GLA, TRP287TER | rs104894839 |
| .0025 | FABRY DISEASE | GLA, SER297PHE | rs28935489 |
| .0026 | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE | GLA, ASP313TYR | rs28935490 |
| .0027 | FABRY DISEASE | GLA, GLN327LYS | rs28935491 |
| .0028 | FABRY DISEASE | GLA, GLY328ALA | rs28935492 |
| .0029 | FABRY DISEASE | GLA, TRP340TER | rs104894842 |
| .0030 | FABRY DISEASE | GLA, ARG342GLN | rs28935493 |
| .0031 | FABRY DISEASE | GLA, ARG342TER | rs104894843 |
| .0032 | FABRY DISEASE | GLA, GLY361ARG | rs28935494 |
| .0033 | FABRY DISEASE | GLA, GLU398TER | rs104894844 |
| .0034 | FABRY DISEASE | GLA, IVSDS, GT-GG, +2 | - |
| .0035 | FABRY DISEASE | GLA, IVS5AS, DEL -2,-3 | - |
| .0036 | FABRY DISEASE | GLA, ALA143THR | rs104894845 |
| .0037 | FABRY DISEASE | GLA, 13-BP DEL, NT125 | - |
| .0038 | FABRY DISEASE | GLA, 1-BP DEL, NT716 | - |
| .0039 | FABRY DISEASE | GLA, 2-BP DEL, NT773 | - |
| .0040 | FABRY DISEASE | GLA, 5-BP INS, NT954 | - |
| .0041 | FABRY DISEASE | GLA, 11-BP DEL, NT1016 | - |
| .0042 | FABRY DISEASE | GLA, 1-BP INS, NT1040 | - |
| .0043 | FABRY DISEASE | GLA, 53-BP DEL, NT1123 | - |
| .0044 | FABRY DISEASE | GLA, 2-BP DEL, NT1176 | - |
| .0045 | FABRY DISEASE | GLA, 3-BP DEL, 1208AAG | - |
| .0046 | FABRY DISEASE | GLA, EX1-2DEL | - |
| .0047 | FABRY DISEASE | GLA, EX3-4DEL | - |
| .0048 | FABRY DISEASE | GLA, EX3-7DEL | - |
| .0049 | FABRY DISEASE | GLA, EX6-7DEL | - |
| .0050 | FABRY DISEASE | GLA, EX2-6DUP | - |
| .0051 | FABRY DISEASE, CARDIAC VARIANT | GLA, MET296ILE | rs104894846 |
| .0052 | FABRY DISEASE, CARDIAC VARIANT | GLA, ALA20PRO | rs104894847 |
| .0053 | FABRY DISEASE | GLA, 3-BP DEL, PHE383DEL | - |
| .0054 | FABRY DISEASE | GLA, SER65THR | rs104894848 |
| .0055 | FABRY DISEASE | GLA, TYR365TER | rs104894849 |
| .0056 | FABRY DISEASE, CARDIAC VARIANT | GLA, IVS4, G-A, -4 | - |
| .0057 | FABRY DISEASE | GLA, ALA143PRO | rs104894845 |
| .0058 | FABRY DISEASE | GLA, TYR222TER | rs104894851 |
| .0059 | FABRY DISEASE | GLA, THR410ALA | rs104894852 |
| .0060 | FABRY DISEASE | GLA, 2-BP DEL, 1277AA | - |
| .0061 | FABRY DISEASE | GLA, 4-BP DEL, 1284ACTT | - |
| .0062 | FABRY DISEASE | GLA, ASN272SER | rs28935495 |
</figtable>
SNPs
<figtable id="tab:omim_SNPS"> SNPs found in OMIM
| SNP | disease/non-disease | Disease | dbSNP_entry |
|---|---|---|---|
| A20P | disease | FABRY DISEASE, CARDIAC VARIANT | rs104894847 |
| N34S | disease | FABRY DISEASE | rs104894835 |
| P40S | disease | FABRY DISEASE | rs104894831 |
| W44X | disease | FABRY DISEASE | rs104894829 |
| C56G | disease | FABRY DISEASE | rs104894836 |
| S65T | disease | FABRY DISEASE | rs104894848 |
| E66Q | disease | FABRY DISEASE | rs104894833 |
| R112C | disease | FABRY DISEASE | rs104894834 |
| A143T | disease | FABRY DISEASE | rs104894845 |
| A143P | disease | FABRY DISEASE | rs104894845 |
| P146S | disease | FABRY DISEASE | rs104894837 |
| A156T | disease | FABRY DISEASE | rs28935195 |
| W162R | disease | FABRY DISEASE | rs28935196 |
| C202W | disease | FABRY DISEASE | rs104894838 |
| N215S | disease | FABRY DISEASE | rs28935197 |
| Y222X | disease | FABRY DISEASE | rs104894851 |
| R227Q | disease | FABRY DISEASE | rs104894840 |
| R227X | disease | FABRY DISEASE | rs104894841 |
| D264V | disease | FABRY DISEASE | rs28935486 |
| D266V | disease | FABRY DISEASE | rs28935487 |
| V269A | disease | FABRY DISEASE | rs28935488 |
| N272S | disease | FABRY DISEASE | rs28935495 |
| Q279E | disease | FABRY DISEASE, CARDIAC VARIANT | rs28935485 |
| W287X | disease | FABRY DISEASE | rs104894839 |
| M296V | disease | FABRY DISEASE, CARDIAC VARIANT | rs104894830 |
| M296I | disease | FABRY DISEASE, CARDIAC VARIANT | rs104894846 |
| S297F | disease | FABRY DISEASE | rs28935489 |
| R301Q | disease | FABRY DISEASE, CARDIAC VARIANT FABRY DISEASE, INCLUDED | rs104894828 |
| D313Y | disease | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE | rs28935490 |
| Q327K | disease | FABRY DISEASE | rs28935491 |
| G328R | disease | FABRY DISEASE | rs104894832 |
| G328A | disease | FABRY DISEASE | rs28935492 |
| W340X | disease | FABRY DISEASE | rs104894842 |
| R342Q | disease | FABRY DISEASE | rs28935493 |
| R342X | disease | FABRY DISEASE | rs104894843 |
| R356W | disease | FABRY DISEASE | rs104894827 |
| G361R | disease | FABRY DISEASE | rs28935494 |
| Y365X | disease | FABRY DISEASE | rs104894849 |
| E398X | disease | FABRY DISEASE | rs104894844 |
| T410A | disease | FABRY DISEASE | rs104894852 |
</figtable>
