| Acute intermittent porphyria (due to HMBS) |
rs34413634 |
NM_000190.4(HMBS):c.583C>T (p.Arg195Cys) |
| Agenesis of the corpus callosum (due to DCC) |
rs199651452 |
NM_005215.4(DCC):c.2227A>T (p.Met743Leu) |
| Agenesis of the corpus callosum (due to DCC) |
rs775565634 |
NM_005215.4(DCC):c.2260G>A (p.Val754Met) |
| Agenesis of the corpus callosum (due to SLC12A24) |
rs121908429 |
NM_001365088.1(SLC12A6):c.619C>T (p.Arg207Cys) |
| Agenesis of the corpus callosum (due to SLC12A37) |
rs199747285 |
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter) |
| Agenesis of the corpus callosum (due to SLC12A46) |
rs606231229 |
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) |
| Agenesis of the corpus callosum (due to SLC12A47) |
rs606231229 |
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) |
| Agenesis of the corpus callosum (due to SLC12A48) |
rs762730861 |
NM_001365088.1(SLC12A6):c.1118+1G>A |
| Agenesis of the corpus callosum (due to SLC12A49) |
rs768514327 |
NM_001365088.1(SLC12A6):c.3337C>T (p.Arg1113Ter) |
| Agenesis of the corpus callosum (due to TMLHE) |
rs782785654 |
NM_018196.4(TMLHE):c.277C>T (p.Arg93Cys) |
| Agenesis of the corpus callosum with peripheral neuropathy (due to SLC12A6) |
rs1057516262 |
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) |
| Agenesis of the corpus callosum with peripheral neuropathy (due to SLC12A6) |
rs606231229 |
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) |
| Agenesis of the corpus callosum with peripheral neuropathy (due to SLC12A6) |
rs762730861 |
NM_001365088.1(SLC12A6):c.1118+1G>A |
| Autosomal recessive axonal neuropathy with neuromyotonia (due to HINT1) |
rs373849532 |
NM_005340.7(HINT1):c.334C>A (p.His112Asn) |
| Autosomal recessive axonal neuropathy with neuromyotonia (due to HINT1) |
rs397514489 |
NM_005340.7(HINT1):c.250T>C (p.Cys84Arg) |
| Brown-Vialetto-Van Laere syndrome 2 (due to SLC52A2) |
rs148234606 |
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro) |
| Brown-Vialetto-Van Laere syndrome 2 (due to SLC52A2) |
rs398123068 |
NM_001363118.2(SLC52A2):c.914A>G (p.Tyr305Cys) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs779696968 |
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) |
| Charcot-Marie-Tooth disease (due to ELP1) |
rs111033171 |
NM_003640.5(ELP1):c.2204+6T>C |
| Charcot-Marie-Tooth disease (due to NTRK1) |
rs756981419 |
NM_001007792.1(NTRK1):c.2195C>T (p.Pro732Leu) |
| Charcot-Marie-Tooth disease type 12 (due to SBF2) |
rs752649372 |
NM_030962.3(SBF2):c.1297-2A>G |
| Charcot-Marie-Tooth disease type 2P (due to LRSAM1) |
rs138226428 |
NM_138361.5(LRSAM1):c.1279C>T (p.Arg427Ter) |
| Charcot-Marie-Tooth disease type 4 (due to FIG4) |
rs587777714 |
NM_014845.5(FIG4):c.904G>A (p.Glu302Lys) |
| Charcot-Marie-Tooth disease type 4 (due to FIG4) |
rs747768373 |
NM_014845.5(FIG4):c.2459+1G>A |
| Charcot-Marie-Tooth disease type 4 (due to FIG4) |
rs774799167 |
NM_014845.5(FIG4):c.2212C>T (p.Gln738Ter) |
| Charcot-Marie-Tooth disease type 4 (due to NDRG1) |
rs119483085 |
NM_001135242.2(NDRG1):c.442C>T (p.Arg148Ter) |
| Charcot-Marie-Tooth disease type 6 (due to SBF2) |
rs120074138 |
NM_030962.3(SBF2):c.3586C>T (p.Arg1196Ter) |
| Charcot-Marie-Tooth disease type 7 (due to SBF2) |
rs774667470 |
NM_030962.3(SBF2):c.3526C>T (p.Arg1176Ter) |
| Charcot-Marie-Tooth disease, axonal type 2V (due to NAGLU) |
rs753520553 |
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) |
| Charcot-Marie-Tooth disease, axonal type 2V (due to NAGLU) |
rs768814260 |
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) |
| Charcot-Marie-Tooth disease, axonal type 2X (due to SPG11) |
rs140385286 |
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) |
| Charcot-Marie-Tooth disease, axonal type 2X (due to SPG11) |
rs267607084 |
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) |
| Charcot-Marie-Tooth disease, axonal type 2X (due to SPG11) |
rs312262748 |
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly) |
| Charcot-Marie-Tooth disease, axonal type 2X (due to SPG11) |
rs765061840 |
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter) |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B (due to MFN2) |
rs757937208 |
NM_014874.4(MFN2):c.334G>A |
| Charcot-Marie-Tooth disease, axonal, type 2O (due to DYNC1H1) |
rs587781253 |
NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His) |
| Charcot-Marie-Tooth disease, axonal, type 2Q (due to DHTKD1) |
rs760386662 |
NM_018706.7(DHTKD1):c.1897-1G>A |
| Charcot-Marie-Tooth disease, axonal, type 2S (due to IGHMBP2) |
rs1057518588 |
NM_002180.2(IGHMBP2):c.547+1G>A |
| Charcot-Marie-Tooth disease, axonal, type 2S (due to IGHMBP2) |
rs886043773 |
NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser) |
| Charcot-Marie-Tooth disease, axonal, type 2u (due to MARS1) |
rs781249411 |
NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr) |
| Charcot-Marie-Tooth disease, dominant intermediate B (due to DNM2) |
rs199927590 |
NM_001005361.2(DNM2):c.1241A>G (p.Lys414Arg) |
| Charcot-Marie-Tooth disease, dominant intermediate F (due to GNB4) |
rs199615251 |
NM_021629.4(GNB4):c.659A>G (p.Gln220Arg) |
| Charcot-Marie-Tooth disease, type 2 (due to GARS1) |
rs137852643 |
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) |
| Charcot-Marie-Tooth disease, type 2 (due to GARS1) |
rs768987322 |
NM_002047.4(GARS1):c.647A>G (p.His216Arg) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs1553265606 |
NM_170707.4(LMNA):c.937-1G>A |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs1572332164 |
NM_170707.4(LMNA):c.121C>A (p.Arg41Ser) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs1572359505 |
NM_170707.4(LMNA):c.640-2A>G |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs267607542 |
NM_170707.4(LMNA):c.513G>A (p.Lys171=) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs267607554 |
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs267607555 |
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs267607573 |
NM_170707.4(LMNA):c.700C>T (p.Gln234Ter) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs267607575 |
NM_170707.4(LMNA):c.1114del (p.Glu372fs) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs267607592 |
NM_170707.4(LMNA):c.1608+1G>A |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs267607618 |
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs267607637 |
NM_170707.4(LMNA):c.1346G>A (p.Gly449Asp) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs267607646 |
NM_170707.4(LMNA):c.348dup (p.Lys117fs) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs28933093 |
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs397517889 |
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs57207746 |
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs57920071 |
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs58100028 |
NM_170707.4(LMNA):c.1397del (p.Asn466fs) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs58932704 |
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs59026483 |
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs61195471 |
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs61295588 |
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs61661343 |
NM_170707.4(LMNA):c.427T>C (p.Ser143Pro) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs794728589 |
NM_170707.4(LMNA):c.356+1G>A |
| Charcot-Marie-Tooth disease, type 4A (due to GDAP1) |
rs104894075 |
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) |
| Charcot-Marie-Tooth disease, type 4C (due to SH3TC2) |
rs145670786 |
NM_024577.4(SH3TC2):c.386-2A>C |
| Charcot-Marie-Tooth disease, type 4C (due to SH3TC2) |
rs759785462 |
NM_024577.4(SH3TC2):c.3511C>T |
| Charcot-Marie-Tooth disease, type 4C (due to SH3TC2) |
rs773554464 |
NM_024577.3(SH3TC2):c.385+2T>C |
| Charcot-Marie-Tooth disease, type 4C (due to SH3TC2) |
rs80338931 |
NM_024577.3(SH3TC2):c.2710C>T (p.Arg904Ter) |
| Charcot-Marie-Tooth disease, type 4C (due to SH3TC2) |
rs80338932 |
NM_024577.3(SH3TC2):c.2829T>G (p.Tyr943Ter) |
| Charcot-Marie-Tooth disease, type 4C (due to SH3TC2) |
rs80338933 |
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) |
| Charcot-Marie-Tooth disease, type 4H (due to FGD4) |
rs118203973 |
NM_139241.3(FGD4):c.1756G>T (p.Gly586Ter) |
| Charcot-Marie-Tooth disease, type 4H (due to FGD4) |
rs118203974 |
NM_139241.3(FGD4):c.823C>T (p.Arg275Ter) |
| Charcot-Marie-Tooth disease, type 4H (due to FGD4) |
rs778377449 |
NM_139241.3(FGD4):c.1729C>T (p.Arg577Ter) |
| Charcot-Marie-Tooth disease, type 4k (due to SURF1) |
rs147816470 |
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter) |
| Charcot-Marie-Tooth disease, type 4k (due to SURF1) |
rs782726390 |
NM_003172.4(SURF1):c.107-2A>G |
| Distal spinal muscular atrophy (due to TDRKH) |
rs375454176 |
NM_001083965.2(TDRKH):c.986G>A (p.Arg329His) |
| Distal spinal muscular atrophy, autosomal recessive 2; Amyotrophic lateral sclerosis 8 (due to VAPB) |
rs74315431 |
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser) |
| Fabry disease (due to GLA) |
rs104894827 |
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp) |
| Fabry disease (due to GLA) |
rs104894830 |
NM_000169.2(GLA):c.886A>G (p.Met296Val) |
| Fabry disease (due to GLA) |
rs104894831 |
NM_000169.2(GLA):c.118C>T (p.Pro40Ser) |
| Fabry disease (due to GLA) |
rs104894834 |
NM_000169.2(GLA):c.334C>T (p.Arg112Cys) |
| Fabry disease (due to GLA) |
rs104894835 |
NM_000169.2(GLA):c.101A>G (p.Asn34Ser) |
| Fabry disease (due to GLA) |
rs104894840 |
NM_000169.2(GLA):c.680G>A (p.Arg227Gln) |
| Fabry disease (due to GLA) |
rs104894840 |
NM_000169.2(GLA):c.680G>C (p.Arg227Pro) |
| Fabry disease (due to GLA) |
rs104894841 |
NM_000169.2(GLA):c.679C>T (p.Arg227Ter) |
| Fabry disease (due to GLA) |
rs104894852 |
NM_000169.2(GLA):c.1228A>G (p.Thr410Ala) |
| Fabry disease (due to GLA) |
rs1057516429 |
NM_000169.2(GLA):c.244A>T (p.Lys82Ter) |
| Fabry disease (due to GLA) |
rs111422676 |
NM_000169.2(GLA):c.1088G>A (p.Arg363His) |
| Fabry disease (due to GLA) |
rs112341092 |
NM_000169.2(GLA):c.1244T>C (p.Leu415Pro) |
| Fabry disease (due to GLA) |
rs1555984869 |
NM_000169.2(GLA):c.1018T>C (p.Trp340Arg) |
| Fabry disease (due to GLA) |
rs1555985830 |
NM_000169.2(GLA):c.439G>A (p.Gly147Arg) |
| Fabry disease (due to GLA) |
rs1569303218 |
NM_000169.2(GLA):c.770C>T (p.Ala257Val) |
| Fabry disease (due to GLA) |
rs1569304190 |
NM_000169.2(GLA):c.444T>G (p.Ser148Arg) |
| Fabry disease (due to GLA) |
rs1569304221 |
NM_000169.2(GLA):c.404C>T (p.Ala135Val) |
| Fabry disease (due to GLA) |
rs1569304851 |
NM_000169.2(GLA):c.307G>T (p.Glu103Ter) |
| Fabry disease (due to GLA) |
rs1569304867 |
NM_000169.2(GLA):c.290C>T (p.Ala97Val) |
| Fabry disease (due to GLA) |
rs1569304886 |
NM_000169.2(GLA):c.266T>G (p.Leu89Arg) |
| Fabry disease (due to GLA) |
rs1603038103 |
NM_000169.2(GLA):c.999+1G>T |
| Fabry disease (due to GLA) |
rs28935196 |
NM_000169.2(GLA):c.484T>C (p.Trp162Arg) |
| Fabry disease (due to GLA) |
rs28935197 |
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) |
| Fabry disease (due to GLA) |
rs28935486 |
NM_000169.2(GLA):c.791A>T (p.Asp264Val) |
| Fabry disease (due to GLA) |
rs28935488 |
NM_000169.2(GLA):c.806T>C (p.Val269Ala) |
| Fabry disease (due to GLA) |
rs28935493 |
NM_000169.2(GLA):c.1025G>A (p.Arg342Gln) |
| Fabry disease (due to GLA) |
rs28935495 |
NM_000169.2(GLA):c.815A>G (p.Asn272Ser) |
| Fabry disease (due to GLA) |
rs397515873 |
NM_000169.2(GLA):c.724A>G (p.Ile242Val) |
| Fabry disease (due to GLA) |
rs398123198 |
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs) |
| Fabry disease (due to GLA) |
rs398123206 |
NM_000169.2(GLA):c.195-1G>T |
| Fabry disease (due to GLA) |
rs398123217 |
NM_000169.2(GLA):c.647A>G (p.Tyr216Cys) |
| Fabry disease (due to GLA) |
rs398123223 |
NM_000169.2(GLA):c.899T>C (p.Leu300Pro) |
| Fabry disease (due to GLA) |
rs398123228 |
NM_000169.2(GLA):c.974G>A (p.Gly325Asp) |
| Fabry disease (due to GLA) |
rs727503072 |
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) |
| Fabry disease (due to GLA) |
rs727503949 |
NM_000169.2(GLA):c.658C>T (p.Arg220Ter) |
| Fabry disease (due to GLA) |
rs727503950 |
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) |
| Fabry disease (due to GLA) |
rs727504348 |
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) |
| Fabry disease (due to GLA) |
rs727505292 |
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) |
| Fabry disease (due to GLA) |
rs730880450 |
NM_000169.2(GLA):c.713G>A (p.Ser238Asn) |
| Fabry disease (due to GLA) |
rs730880451 |
NM_000169.2(GLA):c.801G>A (p.Met267Ile) |
| Fabry disease (due to GLA) |
rs730880455 |
NM_000169.2(GLA):c.41T>C (p.Leu14Pro) |
| Fabry disease (due to GLA) |
rs781838005 |
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) |
| Fabry disease (due to GLA) |
rs797044669 |
NM_000169.2(GLA):c.369+1G>A |
| Fabry disease (due to GLA) |
rs797044702 |
NM_000169.2(GLA):c.469C>T (p.Gln157Ter) |
| Fabry disease (due to GLA) |
rs797044747 |
NM_000169.2(GLA):c.661C>T (p.Gln221Ter) |
| Fabry disease (due to GLA) |
rs797044748 |
NM_000169.2(GLA):c.801+3A>G |
| Fabry disease (due to GLA) |
rs797044775 |
NM_000169.2(GLA):c.1157A>C (p.Gln386Pro) |
| Fabry disease (due to GLA) |
rs797044776 |
NM_000169.2(GLA):c.1087C>T (p.Arg363Cys) |
| Fabry disease (due to GLA) |
rs869312134 |
NM_000169.2(GLA):c.59C>A (p.Ala20Asp) |
| Fabry disease (due to GLA) |
rs869312135 |
NM_000169.2(GLA):c.62T>C (p.Leu21Pro) |
| Fabry disease (due to GLA) |
rs869312136 |
NM_000169.2(GLA):c.98A>G (p.Asp33Gly) |
| Fabry disease (due to GLA) |
rs869312137 |
NM_000169.2(GLA):c.104G>A (p.Gly35Glu) |
| Fabry disease (due to GLA) |
rs869312138 |
NM_000169.2(GLA):c.107T>G (p.Leu36Trp) |
| Fabry disease (due to GLA) |
rs869312139 |
NM_000169.2(GLA):c.190A>T (p.Ile64Phe) |
| Fabry disease (due to GLA) |
rs869312140 |
NM_000169.2(GLA):c.256T>C (p.Tyr86His) |
| Fabry disease (due to GLA) |
rs869312145 |
NM_000169.2(GLA):c.540G>T (p.Leu180Phe) |
| Fabry disease (due to GLA) |
rs869312146 |
NM_000169.2(GLA):c.561G>A (p.Met187Ile) |
| Fabry disease (due to GLA) |
rs869312148 |
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) |
| Fabry disease (due to GLA) |
rs869312150 |
NM_000169.2(GLA):c.641C>T (p.Pro214Leu) |
| Fabry disease (due to GLA) |
rs869312151 |
NM_000169.2(GLA):c.657C>G (p.Ile219Met) |
| Fabry disease (due to GLA) |
rs869312153 |
NM_000169.2(GLA):c.761T>C (p.Val254Ala) |
| Fabry disease (due to GLA) |
rs869312154 |
NM_000169.2(GLA):c.784T>C (p.Trp262Arg) |
| Fabry disease (due to GLA) |
rs869312158 |
NM_000169.2(GLA):c.950T>G (p.Ile317Ser) |
| Fabry disease (due to GLA) |
rs869312163 |
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) |
| Fabry disease (due to GLA) |
rs869312163 |
NM_000169.2(GLA):c.1067G>C (p.Arg356Pro) |
| Fabry disease (due to GLA) |
rs869312164 |
NM_000169.2(GLA):c.1124G>C (p.Gly375Ala) |
| Fabry disease (due to GLA) |
rs869312203 |
NM_000169.2(GLA):c.1000-10G>A |
| Fabry disease (due to GLA) |
rs869312227 |
NM_000169.2(GLA):c.1118G>A (p.Gly373Asp) |
| Fabry disease (due to GLA) |
rs869312270 |
NM_000169.2(GLA):c.277G>A (p.Asp93Asn) |
| Fabry disease (due to GLA) |
rs869312272 |
NM_000169.2(GLA):c.298A>T (p.Arg100Ter) |
| Fabry disease (due to GLA) |
rs869312316 |
NM_000169.3(GLA):c.50_54del (p.Arg17fs) |
| Fabry disease (due to GLA) |
rs869312324 |
NM_000169.2(GLA):c.547G>A (p.Gly183Ser) |
| Fabry disease (due to GLA) |
rs869312396 |
NM_000169.2(GLA):c.749A>C (p.Gln250Pro) |
| Fabry disease (due to GLA) |
rs869312398 |
NM_000169.3(GLA):c.774_775del (p.Pro259fs) |
| Fabry disease (due to GLA) |
rs869312430 |
NM_000169.2(GLA):c.818T>C (p.Phe273Ser) |
| Fabry disease (due to GLA) |
rs869312432 |
NM_000169.2(GLA):c.826A>G (p.Ser276Gly) |
| Fabry disease (due to GLA) |
rs879254022 |
NM_000169.2(GLA):c.707G>A (p.Trp236Ter) |
| Fabry disease (due to GLA) |
rs886044766 |
NM_000169.2(GLA):c.830G>A (p.Trp277Ter) |
| Fabry disease (due to GLA) |
rs886044843 |
NM_000169.2(GLA):c.422C>T (p.Thr141Ile) |
| Fabry disease (due to GLA) |
rs886044879 |
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894829 |
NM_001199973.2(RPL36A-HNRNPH2):c.301-4163C>T |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894836 |
NM_001199973.2(RPL36A-HNRNPH2):c.301-4198A>C |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894837 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+6286G>A |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894838 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+5242A>C |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894848 |
NM_001199973.2(RPL36A-HNRNPH2):c.301-4226C>G |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894851 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+3463G>T |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs1555987215 |
NM_001199973.2(RPL36A-HNRNPH2):c.301-4058del |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs1569303213 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+3352del |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs28935195 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+6256C>T |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs28935492 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2929C>G |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs879253955 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2454del |
| Hereditary motor and sensory neuropathy (due to PDXK) |
rs757480516 |
NM_003681.5(PDXK):c.682G>A (p.Ala228Thr) |
| Hereditary motor and sensory neuropathy (due to PDXK) |
rs759333796 |
NM_003681.5(PDXK):c.659G>A (p.Arg220Gln) |
| Hereditary motor and sensory neuropathy, Okinawa type (due to TFG) |
rs207482230 |
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) |
| Hereditary motor and sensory neuropathy, Okinawa type (due to TFG) |
rs587777175 |
NM_006070.6(TFG):c.316C>T (p.Arg106Cys) |
| Hereditary sensory and autonomic neuropathy type IC (due to SPTLC2) |
rs775437084 |
NM_004863.3(SPTLC2):c.547C>T (p.Arg183Trp) |
| Hereditary sensory and autonomic neuropathy type IIA (due to WNK1) |
rs111033590 |
NM_018979.4(WNK1):c.2140-2493C>T |
| Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 (due to SCN9A) |
rs1057518162 |
NM_001365536.1(SCN9A):c.2141G>A (p.Trp714Ter) |
| Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 (due to SCN9A) |
rs1057518900 |
NM_001365536.1(SCN9A):c.1642C>T (p.Arg548Ter) |
| Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 (due to SCN9A) |
rs121908918 |
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr) |
| Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 (due to SCN9A) |
rs200070962 |
NM_001365536.1(SCN9A):c.4733G>A (p.Trp1578Ter) |
| Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 (due to SCN9A) |
rs755067851 |
NM_001365536.1(SCN9A):c.258+1G>A |
| Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 (due to SCN9A) |
rs780673293 |
NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter) |
| Hereditary sensory and autonomic neuropathy type IIA; Pseudohypoaldosteronism type 2C (due to WNK1) |
rs111033591 |
NM_018979.4(WNK1):c.2140-2568C>T |
| Hereditary sensory and autonomic neuropathy type IIC (due to KIF1A) |
rs387906799 |
NM_004321.7(KIF1A):c.296C>T (p.Thr99Met) |
| Hereditary sensory and autonomic neuropathy type IIC (due to KIF1A) |
rs748477031 |
NM_004321.7(KIF1A):c.1927C>T (p.Gln643Ter) |
| Hereditary spastic paraplegia 5A (due to CYP7B1) |
rs121908610 |
NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe) |
| Hereditary spastic paraplegia 5A (due to CYP7B1) |
rs587777222 |
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala) |
| Hereditary spastic paraplegia 5A (due to CYP7B1) |
rs72554620 |
NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter) |
| Hereditary spastic paraplegia 5A (due to CYP7B1) |
rs751713917 |
NM_004820.5(CYP7B1):c.259+2T>C |
| Peripheral neuropathy (due to SPTLC3) |
rs755919784 |
NM_018327.4(SPTLC3):c.448T>C (p.Trp150Arg) |
| Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (due to MCM3AP) |
rs373674344 |
NM_003906.5(MCM3AP):c.2633G>A (p.Arg878His) |
| Pontocerebellar hypoplasia type 1A (due to VRK1) |
rs772263867 |
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter) |
| Pontocerebellar hypoplasia type 2D (due to SEPSECS) |
rs267607035 |
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) |
| Pontocerebellar hypoplasia type 6 (due to RARS13) |
rs764875815 |
NM_020320.5(RARS2):c.1282G>A (p.Gly428Arg) |
| Pontocerebellar hypoplasia type 6 (due to RARS14) |
rs765088174 |
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) |
| Pontocerebellar hypoplasia type 6 (due to RARS7) |
rs147391618 |
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) |
| Pontocerebellar hypoplasia type 6 (due to RARS8) |
rs772887102 |
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) |
| Pontocerebellar hypoplasia, type 10 (due to CLP1) |
rs587777616 |
NM_006831.3(CLP1):c.419G>A (p.Arg140His) |
| Pontocerebellar hypoplasia, type 1c (due to EXOSC8) |
rs36027220 |
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) |
| Pontocerebellar hypoplasia, type 1d (due to EXOSC9) |
rs139632595 |
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) |
| Pontocerebellar hypoplasia, type 7 (due to TOE1) |
rs148067486 |
NM_025077.4(TOE1):c.443T>A (p.Phe148Tyr) |
| Pontocerebellar hypoplasia, type 7 (due to TOE1) |
rs368182654 |
NM_025077.4(TOE1):c.757C>T (p.Arg253Trp) |
| Pontocerebellar hypoplasia, type 7 (due to TOE1) |
rs371848318 |
NM_025077.4(TOE1):c.307G>A (p.Ala103Thr) |
| Pontocerebellar hypoplasia, type 7 (due to TOE1) |
rs774056037 |
NM_025077.4(TOE1):c.219G>C (p.Arg73Ser) |
| Pontocerebellar hypoplasia, type 7 (due to TOE1) |
rs778263701 |
NM_025077.4(TOE1):c.716T>C (p.Phe239Ser) |
| Pontocerebellar hypoplasia, type 8 (due to CHMP1A) |
rs397515426 |
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) |
| Pontocerebellar hypoplasia, type 9 (due to AMPD2) |
rs587777393 |
NM_001368809.2(AMPD2):c.885C>A (p.Tyr295Ter) |
| Pontocerebellar hypoplasia, type 9 (due to AMPD2) |
rs760433806 |
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter) |
| Spastic ataxia; Sensorimotor neuropathy (due to SPG7) |
rs61755320 |
NM_003119.2(SPG7):c.1529C>T |
| Spastic paraplegia (due to AP4S1) |
rs185246578 |
NM_001128126.3(AP4S1):c.295-3C>A |
| Spastic paraplegia (due to CYP7B1) |
rs200737038 |
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) |
| Spastic paraplegia (due to KIF5A) |
rs387907285 |
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys) |
| Spastic paraplegia (due to SACS) |
rs202199411 |
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) |
| Spastic paraplegia (due to SACS) |
rs371019314 |
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) |
| Spastic paraplegia (due to ZFYVE26) |
rs140354725 |
NM_015346.4(ZFYVE26):c.231G>A (p.Trp77Ter) |
| Spastic paraplegia (due to ZFYVE26) |
rs767164213 |
NM_015346.4(ZFYVE26):c.3139+2T>G |
| Spinal muscular atrophy with congenital bone fractures 1 (due to TRIP4) |
rs761865592 |
NM_016213.5(TRIP4):c.832C>T (p.Arg278Ter) |
| Spinal muscular atrophy with congenital bone fractures 2 (due to ASCC1) |
rs183415577 |
NM_001198800.3(ASCC1):c.382C>T (p.Arg128Ter) |
| Spinal muscular atrophy with congenital bone fractures 2 (due to ASCC1) |
rs866050664 |
NM_001198800.3(ASCC1):c.328C>T (p.Arg110Ter) |
| Spinal muscular atrophy, distal, autosomal recessive (due to IGHMBP2) |
rs1057518588 |
NM_002180.2(IGHMBP2):c.547+1G>A |
| Spinal muscular atrophy, distal, autosomal recessive (due to IGHMBP2) |
rs137852669 |
NM_002180.2(IGHMBP2):c.707T>G (p.Leu236Ter) |
| Spinal muscular atrophy, distal, autosomal recessive (due to IGHMBP2) |
rs879253887 |
NM_002180.2(IGHMBP2):c.1616C>T (p.Ser539Leu) |
| Spinal muscular atrophy, distal, autosomal recessive, 5 (due to DNAJB2) |
rs562669797 |
NM_006736.6(DNAJB2):c.175+2T>A |
| Spinal muscular atrophy, distal, autosomal recessive, 5 (due to DNAJB2) |
rs756614404 |
NM_006736.6(DNAJB2):c.352+1G>A |
| Spinal muscular atrophy, distal, autosomal recessive, 5 (due to DNAJB2) |
rs758322672 |
NM_006736.6(DNAJB2):c.446-2A>G |
| Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant (due to BICD15) |
rs371707778 |
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) |
| Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant (due to BICD4) |
rs371707778 |
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (due to SETX) |
rs267607044 |
NM_015046.5(SETX):c.[3880C>T;822G>H] |
| Tay-Sachs disease (due to HEXA) |
rs1057516850 |
NM_000520.6(HEXA):c.465del (p.Phe155fs) |
| Tay-Sachs disease (due to HEXA) |
rs1057517174 |
NM_000520.6(HEXA):c.436del (p.Val146fs) |
| Tay-Sachs disease (due to HEXA) |
rs121907966 |
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) |
| Tay-Sachs disease (due to HEXA) |
rs121907972 |
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) |
| Tay-Sachs disease (due to HEXA) |
rs121907980 |
NM_000520.6(HEXA):c.805+1G>A |
| Tay-Sachs disease (due to HEXA) |
rs147324677 |
NM_000520.6(HEXA):c.1421+1G>C |
| Tay-Sachs disease (due to HEXA) |
rs150675340 |
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) |
| Tay-Sachs disease (due to HEXA) |
rs200926928 |
NM_000520.6(HEXA):c.986+3A>G |
| Tay-Sachs disease (due to HEXA) |
rs387906309 |
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) |
| Tay-Sachs disease (due to HEXA) |
rs387906311 |
NM_000520.6(HEXA):c.672+1G>A |
| Tay-Sachs disease (due to HEXA) |
rs76173977 |
NM_000520.6(HEXA):c.1073+1G>A |
| Tay-Sachs disease (due to HEXA) |
rs762060470 |
NM_000520.6(HEXA):c.459+5G>A |
| Tay-Sachs disease (due to HEXA) |
rs767041069 |
NM_000520.6(HEXA):c.1330+1G>A |
| Tay-Sachs disease (due to HEXA) |
rs773446161 |
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) |
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