| Acute intermittent porphyria (due to HMBS) |
rs118204095 |
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) |
| Acute intermittent porphyria (due to HMBS) |
rs118204095 |
NM_000190.4(HMBS):c.500G>T (p.Arg167Leu) |
| Acute intermittent porphyria (due to HMBS) |
rs118204101 |
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp) |
| Acute intermittent porphyria (due to HMBS) |
rs118204109 |
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) |
| Acute intermittent porphyria (due to HMBS) |
rs118204120 |
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter) |
| Agenesis of the corpus callosum (due to SLC12A21) |
rs121908427 |
NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter) |
| 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 SLC12A39) |
rs515726215 |
NM_001365088.1(SLC12A6):c.2436+1del |
| Agenesis of the corpus callosum (due to MED12) |
rs80338758 |
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) |
| Agenesis of the corpus callosum (due to ADNP) |
rs886041116 |
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) |
| Agenesis of the corpus callosum with peripheral neuropathy (due to SLC12A6) |
rs515726215 |
NM_001365088.1(SLC12A6):c.2436+1del |
| Autosomal recessive axonal neuropathy with neuromyotonia (due to HINT1) |
rs149782619 |
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro) |
| 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) |
rs375088539 |
NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter) |
| Brown-Vialetto-Van Laere syndrome 2 (due to SLC52A2) |
rs397514657 |
NM_001363118.2(SLC52A2):c.155C>T (p.Ser52Phe) |
| Brown-Vialetto-Van Laere syndrome 2 (due to SLC52A2) |
rs398124641 |
NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg) |
| Brown-Vialetto-Van Laere syndrome 2 (due to SLC52A2) |
rs754320812 |
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro) |
| Charcot-Marie-Tooth disease (due to ELP1) |
rs111033171 |
NM_003640.5(ELP1):c.2204+6T>C |
| Charcot-Marie-Tooth disease (due to SPTLC1) |
rs119482083 |
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) |
| Charcot-Marie-Tooth disease (due to TTR) |
rs121918070 |
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) |
| Charcot-Marie-Tooth disease (due to RETREG1) |
rs137852739 |
NM_019000.4(RETREG1):c.503C>G (p.Ser168Ter) |
| Charcot-Marie-Tooth disease (due to ELP1) |
rs137853022 |
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro) |
| Charcot-Marie-Tooth disease (due to TTR) |
rs28933979 |
NM_000371.4(TTR):c.148G>A (p.Val50Met) |
| Charcot-Marie-Tooth disease (due to ELP1) |
rs28939712 |
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu) |
| Charcot-Marie-Tooth disease (due to TTR) |
rs76992529 |
NM_000371.4(TTR):c.424G>A (p.Val142Ile) |
| Charcot-Marie-Tooth disease axonal type 2C (due to TRPV4) |
rs121912633 |
NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) |
| Charcot-Marie-Tooth disease axonal type 2C (due to TRPV4) |
rs267607143 |
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) |
| Charcot-Marie-Tooth disease axonal type 2C (due to TRPV4) |
rs267607144 |
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) |
| Charcot-Marie-Tooth disease axonal type 2C (due to TRPV4) |
rs267607145 |
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) |
| Charcot-Marie-Tooth disease axonal type 2C (due to TRPV4) |
rs387906904 |
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) |
| Charcot-Marie-Tooth disease axonal type 2C (due to TRPV4) |
rs397514494 |
NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln) |
| Charcot-Marie-Tooth disease axonal type 2F (due to HSPB1) |
rs863225022 |
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) |
| Charcot-Marie-Tooth disease type 2E (due to NEFL) |
rs28928910 |
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) |
| Charcot-Marie-Tooth disease type 2E (due to NEFL) |
rs58982919 |
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) |
| Charcot-Marie-Tooth disease type 2E (due to NEFL) |
rs59443585 |
NM_006158.4(NEFL):c.995A>C (p.Gln332Pro) |
| Charcot-Marie-Tooth disease type 2E (due to NEFL) |
rs62636503 |
NM_006158.4(NEFL):c.1186G>A (p.Glu396Lys) |
| Charcot-Marie-Tooth disease type 4 (due to PRX) |
rs104894707 |
NM_020956.2(PRX):c.*2350T>A |
| Charcot-Marie-Tooth disease type 4 (due to PRX) |
rs104894708 |
NM_020956.2(PRX):c.*3413C>T |
| Charcot-Marie-Tooth disease type 4 (due to PRX) |
rs104894714 |
NM_181882.3(PRX):c.2857C>T (p.Arg953Ter) |
| Charcot-Marie-Tooth disease type 4 (due to NDRG1) |
rs119483085 |
NM_001135242.2(NDRG1):c.442C>T (p.Arg148Ter) |
| Charcot-Marie-Tooth disease type 4 (due to FIG4) |
rs121908288 |
NM_014845.5(FIG4):c.547C>T (p.Arg183Ter) |
| Charcot-Marie-Tooth disease type 4 (due to FIG4) |
rs377357931 |
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter) |
| Charcot-Marie-Tooth disease type 4 (due to PRX) |
rs754521978 |
NM_181882.3(PRX):c.2787del (p.Lys930fs) |
| Charcot-Marie-Tooth disease type 4 (due to FIG4) |
rs786200937 |
NM_014845.5(FIG4):c.831_838del (p.Lys278fs) |
| Charcot-Marie-Tooth disease type 4 (due to PRX) |
rs797045102 |
NM_181882.3(PRX):c.2289del (p.Asp765fs) |
| Charcot-Marie-Tooth disease type 4 (due to MTMR2) |
rs863224516 |
NM_016156.5(MTMR2):c.1034del (p.Asn345fs) |
| Charcot-Marie-Tooth disease, axonal type 2V (due to NAGLU) |
rs104894590 |
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) |
| Charcot-Marie-Tooth disease, axonal type 2V (due to NAGLU) |
rs104894591 |
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) |
| Charcot-Marie-Tooth disease, axonal type 2V (due to NAGLU) |
rs104894592 |
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) |
| Charcot-Marie-Tooth disease, axonal type 2V (due to NAGLU) |
rs104894595 |
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) |
| Charcot-Marie-Tooth disease, axonal type 2V (due to NAGLU) |
rs104894598 |
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) |
| Charcot-Marie-Tooth disease, axonal type 2V (due to PMP22) |
rs104894621 |
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu) |
| Charcot-Marie-Tooth disease, axonal type 2V (due to NAGLU) |
rs796052122 |
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) |
| Charcot-Marie-Tooth disease, axonal type 2V (due to PMP22) |
rs863225027 |
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) |
| Charcot-Marie-Tooth disease, axonal type 2V (due to PMP22) |
rs863225029 |
NM_000304.4(PMP22):c.434del (p.Leu145fs) |
| Charcot-Marie-Tooth disease, axonal type 2X (due to SPG11) |
rs118203963 |
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) |
| Charcot-Marie-Tooth disease, axonal type 2X (due to SPG11) |
rs312262719 |
NM_025137.4(SPG11):c.704_705del (p.His235fs) |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B (due to MFN2) |
rs387906990 |
NM_014874.3(MFN2):c.647T>C (p.Phe216Ser) |
| Charcot-Marie-Tooth disease, axonal, type 2EE (due to MPV17) |
rs267607258 |
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) |
| Charcot-Marie-Tooth disease, axonal, type 2O (due to DYNC1H1) |
rs587780564 |
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) |
| Charcot-Marie-Tooth disease, axonal, type 2R (due to TRIM2) |
rs879253863 |
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala) |
| Charcot-Marie-Tooth disease, axonal, type 2S (due to IGHMBP2) |
rs137852665 |
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys) |
| Charcot-Marie-Tooth disease, axonal, type 2S (due to IGHMBP2) |
rs137852667 |
NM_002180.3(IGHMBP2):c.1738G>A |
| Charcot-Marie-Tooth disease, axonal, type 2S (due to IGHMBP2) |
rs145226920 |
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) |
| Charcot-Marie-Tooth disease, axonal, type 2S (due to IGHMBP2) |
rs200089714 |
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) |
| Charcot-Marie-Tooth disease, axonal, type 2S (due to IGHMBP2) |
rs372000714 |
NM_002180.3(IGHMBP2):c.138T>A |
| Charcot-Marie-Tooth disease, axonal, type 2S (due to IGHMBP2) |
rs724159994 |
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) |
| Charcot-Marie-Tooth disease, axonal, type 2S (due to IGHMBP2) |
rs780594709 |
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) |
| Charcot-Marie-Tooth disease, axonal, type 2S (due to IGHMBP2) |
rs797044802 |
NM_002180.3(IGHMBP2):c.449+1G>T |
| Charcot-Marie-Tooth disease, axonal, type 2T (due to DNAJB2) |
rs730882140 |
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) |
| Charcot-Marie-Tooth disease, axonal, type 2T (due to DNAJB2) |
rs797045039 |
NM_006736.6(DNAJB2):c.343G>T (p.Glu115Ter) |
| Charcot-Marie-Tooth disease, axonal, type 2u (due to MARS1) |
rs143592405 |
NM_004990.3(MARS1):c.[1031A>G];[1177G>A[1700C>T] |
| Charcot-Marie-Tooth disease, dominant intermediate B (due to DNM2) |
rs121909089 |
NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln) |
| Charcot-Marie-Tooth disease, dominant intermediate B (due to DNM2) |
rs121909090 |
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) |
| Charcot-Marie-Tooth disease, dominant intermediate B (due to DNM2) |
rs121909091 |
NM_001005360.3(DNM2):c.1393C>T |
| Charcot-Marie-Tooth disease, dominant intermediate B (due to DNM2) |
rs121909092 |
NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys) |
| Charcot-Marie-Tooth disease, dominant intermediate B (due to DNM2) |
rs121909095 |
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) |
| Charcot-Marie-Tooth disease, dominant intermediate B (due to DNM2) |
rs267606772 |
NM_001190716.2(DNM2):c.1072G>A (p.Gly358Arg) |
| Charcot-Marie-Tooth disease, dominant intermediate B (due to DNM2) |
rs587783595 |
NM_001005360.2(DNM2):c.1565G>A (p.Arg522His) |
| Charcot-Marie-Tooth disease, dominant intermediate E (due to INF2) |
rs387907037 |
NM_022489.4(INF2):c.383T>C (p.Leu128Pro) |
| Charcot-Marie-Tooth disease, recessive intermediate B (due to KARS1) |
rs267607194 |
NM_005548.2(KARS1):c.314T>A (p.Leu105His) |
| Charcot-Marie-Tooth disease, type 1C (due to LITAF) |
rs104894519 |
NM_001136473.1(LITAF):c.334G>A (p.Gly112Ser) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs1060502214 |
NM_170707.4(LMNA):c.1118T>G (p.Ile373Ser) |
| Charcot-Marie-Tooth disease, type 2 (due to MFN2) |
rs119103265 |
NM_014874.3(MFN2):c.1090C>T (p.Arg364Trp) |
| Charcot-Marie-Tooth disease, type 2 (due to MFN2) |
rs119103267 |
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs121912496 |
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) |
| 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 BSCL2) |
rs137852972 |
NM_032667.6(BSCL2):c.263A>G (p.Asn88Ser) |
| Charcot-Marie-Tooth disease, type 2 (due to BSCL2) |
rs137852973 |
NM_032667.6(BSCL2):c.269C>T (p.Ser90Leu) |
| Charcot-Marie-Tooth disease, type 2 (due to BSCL2) |
rs137852975 |
NM_032667.6(BSCL2):c.565G>T (p.Glu189Ter) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs267607552 |
NM_170707.4(LMNA):c.1380+1G>A |
| 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) |
rs267607570 |
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs267607571 |
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) |
| 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) |
rs267607577 |
NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs267607578 |
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs267607581 |
NM_170707.4(LMNA):c.1609-3C>G |
| 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) |
rs267607599 |
NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs267607609 |
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs267607617 |
NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter) |
| 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) |
rs267607632 |
NM_170707.4(LMNA):c.810+1G>A |
| 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) |
rs28933091 |
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) |
| 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 MFN2) |
rs28940292 |
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs386134243 |
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) |
| Charcot-Marie-Tooth disease, type 2 (due to MFN2) |
rs387906991 |
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) |
| 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) |
rs397517915 |
NM_170707.4(LMNA):c.958del (p.Leu320fs) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs56793579 |
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs56816490 |
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs56984562 |
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) |
| 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) |
rs57508089 |
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs57629361 |
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs57629361 |
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) |
| 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) |
rs57983345 |
NM_170707.4(LMNA):c.116A>G (p.Asn39Ser) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs58013325 |
NM_005572.3(LMNA):c.1526dupC (p.Thr510Tyrfs) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs58327533 |
NM_170707.4(LMNA):c.73C>G (p.Arg25Gly) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs58596362 |
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) |
| Charcot-Marie-Tooth disease, type 2 (due to MFN2) |
rs587777875 |
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) |
| 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) |
rs58978449 |
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) |
| 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) |
rs59040894 |
NM_170707.4(LMNA):c.266G>T (p.Arg89Leu) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs59270054 |
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs59332535 |
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs59564495 |
NM_170707.4(LMNA):c.857_859del (p.Gly286del) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs59684335 |
NM_170707.4(LMNA):c.908_909del (p.Ser303fs) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs59914820 |
NM_170707.4(LMNA):c.82C>T (p.Arg28Trp) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs60458016 |
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs60682848 |
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs60872029 |
NM_170707.4(LMNA):c.94_96del (p.Lys32del) |
| 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) |
rs61444459 |
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) |
| 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) |
rs61672878 |
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs794728611 |
NM_170707.4(LMNA):c.1276_1277del (p.Ser426fs) |
| Charcot-Marie-Tooth disease, type 2 (due to MFN2) |
rs794729198 |
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs797044758 |
NM_170707.4(LMNA):c.886_887insA (p.Arg296fs) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs80356807 |
NM_170707.4(LMNA):c.640-10A>G |
| Charcot-Marie-Tooth disease, type 2 (due to MFN2) |
rs863224069 |
NM_014874.3(MFN2):c.314C>T (p.Thr105Met) |
| Charcot-Marie-Tooth disease, type 2 (due to GARS1) |
rs863224873 |
NM_002047.4(GARS1):c.998A>T (p.Glu333Val) |
| Charcot-Marie-Tooth disease, type 2 (due to MFN2) |
rs863224967 |
NM_014874.3(MFN2):c.1126A>G (p.Met376Val) |
| Charcot-Marie-Tooth disease, type 2 (due to MFN2) |
rs863224968 |
NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs863225024 |
NM_170707.3(LMNA):c.1961dupG (p.Thr655Asnfs) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs864309525 |
NM_170707.4(LMNA):c.91_93del (p.Glu31del) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs878855234 |
NM_170707.4(LMNA):c.928C>T (p.Gln310Ter) |
| Charcot-Marie-Tooth disease, type 2 (due to LMNA) |
rs879253932 |
NM_170707.4(LMNA):c.162_163del (p.Asn56fs) |
| Charcot-Marie-Tooth disease, type 2 (due to MFN2) |
rs879254011 |
NM_014874.3(MFN2):c.1091G>A (p.Arg364Gln) |
| Charcot-Marie-Tooth disease, type 2A2A (due to MFN2) |
rs119103263 |
NM_014874.3(MFN2):c.280C>T (p.Arg94Trp) |
| Charcot-Marie-Tooth disease, type 2A2A (due to MFN2) |
rs119103268 |
NM_014874.3(MFN2):c.310C>T (p.Arg104Trp) |
| Charcot-Marie-Tooth disease, type 2A2A (due to MFN2) |
rs28940291 |
NM_014874.3(MFN2):c.281G>A (p.Arg94Gln) |
| Charcot-Marie-Tooth disease, type 2A2A (due to MFN2) |
rs28940293 |
NM_014874.3(MFN2):c.227T>C (p.Leu76Pro) |
| Charcot-Marie-Tooth disease, type 2A2A (due to MFN2) |
rs28940294 |
NM_014874.4(MFN2):c.839G>A |
| Charcot-Marie-Tooth disease, type 2A2A (due to MFN2) |
rs863224969 |
NM_014874.3(MFN2):c.436C>T (p.Leu146Phe) |
| Charcot-Marie-Tooth disease, type 2A2A (due to MFN2) |
rs863224970 |
NM_014874.3(MFN2):c.494A>G (p.His165Arg) |
| Charcot-Marie-Tooth disease, type 2N (due to AARS1) |
rs267606621 |
NM_001605.3(AARS1):c.986G>A (p.Arg329His) |
| Charcot-Marie-Tooth disease, type 4A (due to GDAP1) |
rs104894075 |
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) |
| Charcot-Marie-Tooth disease, type 4A (due to GDAP1) |
rs104894078 |
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) |
| Charcot-Marie-Tooth disease, type 4A (due to GDAP1) |
rs104894080 |
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) |
| Charcot-Marie-Tooth disease, type 4A (due to GDAP1) |
rs121908114 |
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) |
| Charcot-Marie-Tooth disease, type 4A (due to GDAP1) |
rs28937906 |
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys) |
| Charcot-Marie-Tooth disease, type 4A (due to GDAP1) |
rs397515442 |
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) |
| Charcot-Marie-Tooth disease, type 4A (due to GDAP1) |
rs745663149 |
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) |
| Charcot-Marie-Tooth disease, type 4C (due to SH3TC2) |
rs776221160 |
NM_024577.3(SH3TC2):c.279G>A (p.Lys93=) |
| Charcot-Marie-Tooth disease, type 4C (due to SH3TC2) |
rs80338925 |
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) |
| Charcot-Marie-Tooth disease, type 4C (due to SH3TC2) |
rs80338926 |
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) |
| 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) |
rs80338933 |
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) |
| Charcot-Marie-Tooth disease, type 4C (due to SH3TC2) |
rs80338934 |
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) |
| Charcot-Marie-Tooth disease, type 4C (due to SH3TC2) |
rs863224520 |
NM_024577.3(SH3TC2):c.1662del (p.Ile555fs) |
| Charcot-Marie-Tooth disease, type 4C (due to SH3TC2) |
rs864309709 |
NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) |
| Charcot-Marie-Tooth disease, type 4k (due to SURF1) |
rs782190413 |
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs121913584 |
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs121913585 |
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs121913586 |
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs121913587 |
NM_000530.8(MPZ):c.404T>C (p.Ile135Thr) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs121913588 |
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs121913589 |
NM_000530.8(MPZ):c.293G>A (p.Arg98His) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs121913589 |
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs121913590 |
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs121913594 |
NM_000530.8(MPZ):c.242A>G (p.His81Arg) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs121913601 |
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs121913603 |
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs281865128 |
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs371856018 |
NM_000530.8(MPZ):c.116A>C (p.His39Pro) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs770546306 |
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs786204119 |
NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs863224449 |
NM_000530.8(MPZ):c.419C>G (p.Ser140Cys) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs863225025 |
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) |
| Charcot-Marie-Tooth disease, type I (due to MPZ) |
rs863225026 |
NM_000530.8(MPZ):c.646-10_650del |
| Charcot-Marie-Tooth disease, X-linked recessive, type 5 (due to PRPS1) |
rs587781262 |
NM_002764.3(PRPS1):c.343A>G (p.Met115Val) |
| Charcot-Marie-Tooth disease, X-linked recessive, type 5 (due to PRPS1) |
rs587781263 |
NM_002764.3(PRPS1):c.925G>T (p.Val309Phe) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs104894810 |
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs104894814 |
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs104894821 |
NM_000166.6(GJB1):c.283G>A (p.Val95Met) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs104894824 |
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs116840815 |
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs116840818 |
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs116840819 |
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs116840822 |
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs756928158 |
NM_000166.6(GJB1):c.271G>A (p.Val91Met) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs779696968 |
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs786204095 |
NM_000166.6(GJB1):c.116C>T (p.Ala39Val) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs863224471 |
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs863224472 |
NM_000166.6(GJB1):c.9G>A (p.Trp3Ter) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs863224971 |
NM_000166.6(GJB1):c.-103C>T |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs863224972 |
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs863224973 |
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs863224974 |
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs864622215 |
NM_000166.6(GJB1):c.644G>C (p.Arg215Pro) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs876661269 |
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs878853697 |
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) |
| Charcot-Marie-Tooth Neuropathy X (due to GJB1) |
rs879254097 |
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) |
| Charcot-Marie-Tooth Neuropathy X Type 1 (due to GJB1) |
rs104894820 |
NM_000166.6(GJB1):c.37G>T (p.Val13Leu) |
| Charcot-Marie-Tooth Neuropathy X Type 1 (due to GJB1) |
rs139643362 |
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) |
| Clubfoot (due to DARS2) |
rs142433332 |
NM_018122.5(DARS2):c.492+2T>C |
| Congenital hypomyelinating neuropathy 1, autosomal recessive (due to EGR2) |
rs104894161 |
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) |
| Congenital hypomyelinating neuropathy 1, autosomal recessive (due to EGR2) |
rs864622273 |
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln) |
| Distal spinal muscular atrophy (due to IGHMBP2) |
rs200089714 |
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) |
| Distal spinal muscular atrophy, autosomal recessive 2; Amyotrophic lateral sclerosis 16, juvenile (due to SIGMAR1) |
rs780136067 |
NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs) |
| Distal spinal muscular atrophy, congenital nonprogressive (due to TRPV4) |
rs267607143 |
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) |
| Distal spinal muscular atrophy, congenital nonprogressive (due to TRPV4) |
rs267607144 |
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) |
| Distal spinal muscular atrophy, congenital nonprogressive (due to TRPV4) |
rs387906904 |
NM_021625.4(TRPV4):c.694C>T (p.Arg232Cys) |
| Distal spinal muscular atrophy, congenital nonprogressive (due to TRPV4) |
rs397514494 |
NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln) |
| Distal spinal muscular atrophy, X-linked 3 (due to ATP7A) |
rs151340633 |
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter) |
| Distal spinal muscular atrophy, X-linked 3 (due to ATP7A) |
rs72554640 |
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) |
| Distal spinal muscular atrophy, X-linked 3 (due to ATP7A) |
rs72554645 |
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter) |
| Distal spinal muscular atrophy, X-linked 3 (due to ATP7A) |
rs797045332 |
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter) |
| Distal spinal muscular atrophy, X-linked 3 (due to ATP7A) |
rs797045347 |
NM_000052.7(ATP7A):c.2172+5G>C |
| Distal spinal muscular atrophy, X-linked 3 (due to ATP7A) |
rs797045397 |
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs) |
| Fabry disease (due to GLA) |
rs104894827 |
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp) |
| Fabry disease (due to GLA) |
rs104894828 |
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894829 |
NM_001199973.2(RPL36A-HNRNPH2):c.301-4163C>T |
| 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 RPL36A-HNRNPH2) |
rs104894832 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2930C>T |
| 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 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 GLA) |
rs104894839 |
NM_000169.2(GLA):c.861G>A (p.Trp287Ter) |
| Fabry disease (due to GLA) |
rs104894840 |
NM_000169.2(GLA):c.680G>A (p.Arg227Gln) |
| Fabry disease (due to GLA) |
rs104894841 |
NM_000169.2(GLA):c.679C>T (p.Arg227Ter) |
| Fabry disease (due to GLA) |
rs104894842 |
NM_000169.2(GLA):c.1020G>A (p.Trp340Ter) |
| Fabry disease (due to GLA) |
rs104894843 |
NM_000169.2(GLA):c.1024C>T (p.Arg342Ter) |
| Fabry disease (due to GLA) |
rs104894844 |
NM_000169.2(GLA):c.1192G>T (p.Glu398Ter) |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894848 |
NM_001199973.2(RPL36A-HNRNPH2):c.301-4226C>G |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894849 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2547A>T |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs104894851 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+3463G>T |
| 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 RPL36A-HNRNPH2) |
rs1057519609 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2494_300+2496del |
| 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) |
rs148158093 |
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) |
| Fabry disease (due to GLA) |
rs199473684 |
NM_000169.3(GLA):c.640-801G>A |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs28935195 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+6256C>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) |
rs28935487 |
NM_000169.2(GLA):c.797A>T (p.Asp266Val) |
| Fabry disease (due to GLA) |
rs28935488 |
NM_000169.2(GLA):c.806T>C (p.Val269Ala) |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs28935489 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+3022G>A |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs28935491 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2933G>T |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs28935492 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2929C>G |
| 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) |
rs372966991 |
NM_000169.2(GLA):c.335G>A (p.Arg112His) |
| Fabry disease (due to GLA) |
rs397515870 |
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) |
| Fabry disease (due to GLA) |
rs398123198 |
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs) |
| Fabry disease (due to GLA) |
rs398123201 |
NM_000169.2(GLA):c.125T>C (p.Met42Thr) |
| Fabry disease (due to GLA) |
rs398123217 |
NM_000169.2(GLA):c.647A>G (p.Tyr216Cys) |
| Fabry disease (due to GLA) |
rs398123220 |
NM_000169.2(GLA):c.734G>A (p.Trp245Ter) |
| Fabry disease (due to GLA) |
rs398123221 |
NM_000169.2(GLA):c.748C>T (p.Gln250Ter) |
| Fabry disease (due to GLA) |
rs398123223 |
NM_000169.2(GLA):c.899T>C (p.Leu300Pro) |
| Fabry disease (due to GLA) |
rs398123224 |
NM_000169.2(GLA):c.901C>T (p.Arg301Ter) |
| Fabry disease (due to GLA) |
rs398123224 |
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) |
| Fabry disease (due to GLA) |
rs398123225 |
NM_000169.3(GLA):c.959_962del (p.Asn320fs) |
| Fabry disease (due to GLA) |
rs398123228 |
NM_000169.2(GLA):c.974G>A (p.Gly325Asp) |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs398123229 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2915_300+2918del |
| 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) |
rs730880453 |
NM_000169.2(GLA):c.1072_1074del (p.Glu358del) |
| 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) |
rs782449839 |
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) |
| Fabry disease (due to GLA) |
rs797044500 |
NM_000169.2(GLA):c.128del (p.Gly43fs) |
| Fabry disease (due to GLA) |
rs797044613 |
NM_000169.2(GLA):c.124A>C (p.Met42Leu) |
| 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) |
rs797044774 |
NM_000169.2(GLA):c.1072G>A (p.Glu358Lys) |
| 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) |
rs869312141 |
NM_000169.2(GLA):c.272T>A (p.Ile91Asn) |
| Fabry disease (due to GLA) |
rs869312142 |
NM_000169.2(GLA):c.337T>A (p.Phe113Ile) |
| 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) |
rs869312149 |
NM_000169.2(GLA):c.638A>G (p.Lys213Arg) |
| 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) |
rs869312160 |
NM_000169.2(GLA):c.980A>T (p.Gln327Leu) |
| 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) |
rs869312214 |
NM_000169.2(GLA):c.1021G>A (p.Glu341Lys) |
| Fabry disease (due to GLA) |
rs869312227 |
NM_000169.2(GLA):c.1118G>A (p.Gly373Asp) |
| 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) |
rs869312344 |
NM_000169.2(GLA):c.605G>A (p.Cys202Tyr) |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs869312389 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+3411_300+3412del |
| Fabry disease (due to GLA) |
rs869312396 |
NM_000169.2(GLA):c.749A>C (p.Gln250Pro) |
| Fabry disease (due to GLA) |
rs869312399 |
NM_000169.2(GLA):c.776C>G (p.Pro259Arg) |
| Fabry disease (due to GLA) |
rs869312427 |
NM_000169.2(GLA):c.805G>A (p.Val269Met) |
| Fabry disease (due to GLA) |
rs869312432 |
NM_000169.2(GLA):c.826A>G (p.Ser276Gly) |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs876661347 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2502_300+2517del |
| Fabry disease (due to GLA) |
rs878853698 |
NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs879253955 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2454del |
| Fabry disease (due to GLA) |
rs879254022 |
NM_000169.2(GLA):c.707G>A (p.Trp236Ter) |
| Fabry disease (due to GLA) |
rs886041315 |
NM_000169.2(GLA):c.274G>T (p.Asp92Tyr) |
| Fabry disease (due to GLA) |
rs886044766 |
NM_000169.2(GLA):c.830G>A (p.Trp277Ter) |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs886044829 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2585_300+2586del |
| Fabry disease (due to GLA) |
rs886044843 |
NM_000169.2(GLA):c.422C>T (p.Thr141Ile) |
| Fabry disease (due to GLA) |
rs886044860 |
NM_000169.2(GLA):c.999+2T>C |
| Fabry disease (due to GLA) |
rs886044879 |
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) |
| Fabry disease (due to RPL36A-HNRNPH2) |
rs886044909 |
NM_001199973.2(RPL36A-HNRNPH2):c.300+2620del |
| Familial thoracic aortic aneurysm (due to SMAD3) |
rs757106110 |
NM_005902.4(SMAD3):c.1102C>T (p.Arg368Ter) |
| Hereditary motor and sensory neuropathy, Okinawa type (due to TFG) |
rs207482230 |
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) |
| Hereditary sensory and autonomic neuropathy type 1 (due to SPTLC1) |
rs119482083 |
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) |
| Hereditary sensory and autonomic neuropathy type 1 (due to SPTLC1) |
rs797045071 |
NM_006415.4(SPTLC1):c.1072G>C (p.Glu358Gln) |
| Hereditary sensory and autonomic neuropathy type IIA (due to WNK1) |
rs111033591 |
NM_018979.4(WNK1):c.2140-2568C>T |
| Hereditary sensory and autonomic neuropathy type IIA (due to KIF1A) |
rs672601370 |
NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) |
| 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 IIB (due to RETREG1) |
rs137852739 |
NM_019000.4(RETREG1):c.503C>G (p.Ser168Ter) |
| 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) |
rs672601370 |
NM_004321.7(KIF1A):c.946C>T (p.Arg316Trp) |
| Hereditary sensory and autonomic neuropathy type IIC (due to KIF1A) |
rs797045050 |
NM_004321.7(KIF1A):c.38G>A (p.Arg13His) |
| Hereditary sensory and autonomic neuropathy type IIC (due to KIF1A) |
rs797045164 |
NM_004321.7(KIF1A):c.646C>T (p.Arg216Cys) |
| Hereditary sensory and autonomic neuropathy type IIC (due to KIF1A) |
rs797045655 |
NM_004321.7(KIF1A):c.821C>T (p.Ser274Leu) |
| Hereditary sensory neuropathy type 1D (due to ATL1) |
rs119476046 |
NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) |
| Hereditary sensory neuropathy type 1D (due to ATL1) |
rs200314808 |
NM_001127713.1(ATL1):c.196G>C (p.Glu66Gln) |
| Hereditary sensory neuropathy type IE (due to DNMT1) |
rs199473690 |
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) |
| Hereditary spastic paraplegia 5A (due to CYP7B1) |
rs116171274 |
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) |
| Hereditary spastic paraplegia 5A (due to CYP7B1) |
rs121908611 |
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His) |
| Hereditary spastic paraplegia 5A (due to CYP7B1) |
rs121908613 |
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter) |
| Hereditary spastic paraplegia 5A (due to CYP7B1) |
rs587777222 |
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala) |
| Olivopontocerebellar hypoplasia (due to TSEN54) |
rs113994152 |
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) |
| Olivopontocerebellar hypoplasia (due to TSEN54) |
rs587784475 |
NM_207346.3(TSEN54):c.1138G>T (p.Glu380Ter) |
| Olivopontocerebellar hypoplasia (due to TSEN54) |
rs587784476 |
NM_207346.3(TSEN54):c.1335del (p.Leu446fs) |
| Olivopontocerebellar hypoplasia (due to TSEN54) |
rs587784477 |
NM_207346.3(TSEN54):c.1511T>C (p.Leu504Pro) |
| Olivopontocerebellar hypoplasia (due to TSEN54) |
rs587784478 |
NM_207346.3(TSEN54):c.1A>C (p.Met1Leu) |
| Peripheral neuropathy (due to ABCA4) |
rs76157638 |
NM_000350.2(ABCA4):c.[2588G>C;5153T>G] |
| Pontocerebellar hypoplasia type 1 (due to VRK1) |
rs137853063 |
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) |
| Pontocerebellar hypoplasia type 1 (due to VRK1) |
rs371295780 |
NM_003384.3(VRK1):c.356A>G (p.His119Arg) |
| Pontocerebellar hypoplasia type 1 (due to VRK1) |
rs772731615 |
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) |
| Pontocerebellar hypoplasia type 1 (due to VRK1) |
rs773138218 |
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) |
| Pontocerebellar hypoplasia type 1A (due to VRK1) |
rs137853063 |
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) |
| Pontocerebellar hypoplasia type 1A (due to VRK1) |
rs371295780 |
NM_003384.3(VRK1):c.356A>G (p.His119Arg) |
| Pontocerebellar hypoplasia type 1A (due to VRK1) |
rs387906830 |
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys) |
| Pontocerebellar hypoplasia type 1A (due to VRK1) |
rs772731615 |
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) |
| Pontocerebellar hypoplasia type 1A (due to VRK1) |
rs773138218 |
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) |
| Pontocerebellar hypoplasia type 2A (due to TSEN54) |
rs113994152 |
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) |
| Pontocerebellar hypoplasia type 2A (due to TSEN54) |
rs797046055 |
NM_207346.3(TSEN54):c.1397dup (p.Gly467fs) |
| Pontocerebellar hypoplasia type 2B (due to TSEN2) |
rs113994149 |
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) |
| Pontocerebellar hypoplasia type 2B (due to TSEN2) |
rs797046051 |
NM_025265.4(TSEN2):c.1337A>G (p.Gln446Arg) |
| Pontocerebellar hypoplasia type 2B (due to TSEN2) |
rs797046052 |
NM_025265.4(TSEN2):c.138CAA[1] (p.Asn48del) |
| Pontocerebellar hypoplasia type 2D (due to SEPSECS) |
rs267607035 |
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) |
| Pontocerebellar hypoplasia type 4 (due to TSEN54) |
rs113994152 |
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) |
| Pontocerebellar hypoplasia type 4; Pontocerebellar hypoplasia type 2A (due to TSEN54) |
rs113994152 |
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) |
| Pontocerebellar hypoplasia type 5 (due to TSEN54) |
rs113994152 |
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) |
| Pontocerebellar hypoplasia type 6 (due to RARS10) |
rs199835443 |
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) |
| Pontocerebellar hypoplasia type 6 (due to RARS20) |
rs199835443 |
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) |
| Pontocerebellar hypoplasia type 6 (due to RARS9) |
rs757743894 |
NM_020320.5(RARS2):c.472_474del (p.Lys158del) |
| Pontocerebellar hypoplasia type 6 (due to RARS8) |
rs772887102 |
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) |
| Pontocerebellar hypoplasia, type 10 (due to CLP 1) |
rs587777616 |
NM_006831.3(CLP1):c.419G>A (p.Arg140His) |
| Pontocerebellar hypoplasia, type 1b (due to EXOSC3) |
rs141138948 |
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) |
| Pontocerebellar hypoplasia, type 1b (due to EXOSC3) |
rs374550999 |
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) |
| Pontocerebellar hypoplasia, type 1b (due to EXOSC3) |
rs387907196 |
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) |
| Pontocerebellar hypoplasia, type 1b (due to EXOSC3) |
rs587780333 |
NM_016042.4(EXOSC3):c.112del (p.Glu38fs) |
| Pontocerebellar hypoplasia, type 1c (due to EXOSC8) |
rs36027220 |
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) |
| Pontocerebellar hypoplasia, type 8 (due to CHMP1A) |
rs397515426 |
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) |
| Progressive spinal muscular atrophy; Absent muscle fiber calpain-3 (due to CAPN3) |
rs80338800 |
NM_000070.3(CAPN3):c.550del (p.Thr184fs) |
| Scapuloperoneal spinal muscular atrophy (due to TRPV4) |
rs267607143 |
NM_021625.4(TRPV4):c.943C>T (p.Arg315Trp) |
| Scapuloperoneal spinal muscular atrophy (due to TRPV4) |
rs267607145 |
NM_021625.4(TRPV4):c.946C>T (p.Arg316Cys) |
| Sensorimotor neuropathy (due to COL6A1) |
rs398123631 |
NM_001848.3(COL6A1):c.1056+1G>A |
| Spastic ataxia; Sensorimotor neuropathy (due to SPG7) |
rs61755320 |
NM_003119.2(SPG7):c.1529C>T |
| Spastic paraplegia (due to NIPA1) |
rs104894490 |
NM_144599.5(NIPA1):c.316G>A (p.Gly106Arg) |
| Spastic paraplegia (due to CYP7B1) |
rs116171274 |
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) |
| Spastic paraplegia (due to ZFYVE26) |
rs118204049 |
NM_015346.4(ZFYVE26):c.4312C>T (p.Arg1438Ter) |
| Spastic paraplegia (due to ATL1) |
rs119476046 |
NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) |
| Spastic paraplegia (due to CYP7B1) |
rs121908611 |
NM_004820.5(CYP7B1):c.1250G>A (p.Arg417His) |
| Spastic paraplegia (due to CYP7B1) |
rs121908613 |
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter) |
| Spastic paraplegia (due to REEP1) |
rs121918262 |
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu) |
| Spastic paraplegia (due to L1CAM) |
rs137852520 |
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) |
| Spastic paraplegia (due to L1CAM) |
rs137852524 |
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) |
| Spastic paraplegia (due to AP4S1) |
rs200440467 |
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) |
| Spastic paraplegia (due to SACS) |
rs202199411 |
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter) |
| Spastic paraplegia (due to SACS) |
rs281865117 |
NM_014363.6(SACS):c.8844del (p.Ile2949fs) |
| Spastic paraplegia (due to SACS) |
rs281865120 |
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) |
| Spastic paraplegia (due to ZFYVE26) |
rs370828455 |
NM_015346.4(ZFYVE26):c.4181G>A (p.Trp1394Ter) |
| Spastic paraplegia (due to KIF5A) |
rs387907285 |
NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys) |
| Spastic paraplegia (due to KIF5A) |
rs387907287 |
NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln) |
| Spastic paraplegia (due to CYP2U1) |
rs397514513 |
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) |
| Spastic paraplegia (due to CYP7B1) |
rs587777222 |
NM_004820.5(CYP7B1):c.889A>G (p.Thr297Ala) |
| Spastic paraplegia (due to MTM1) |
rs587783772 |
NM_000252.2(MTM1):c.1262G>A (p.Arg421Gln) |
| Spastic paraplegia (due to SLC16A2) |
rs587784383 |
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) |
| Spastic paraplegia (due to SLC16A2) |
rs587784384 |
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) |
| Spastic paraplegia (due to SACS) |
rs780247476 |
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) |
| Spastic paraplegia (due to KIF1A) |
rs797045050 |
NM_004321.7(KIF1A):c.38G>A (p.Arg13His) |
| Spastic paraplegia (due to L1CAM) |
rs863224494 |
NM_001278116.2(L1CAM):c.1939A>T (p.Lys647Ter) |
| Spastic paraplegia (due to VAMP1) |
rs878854975 |
NM_014231.5(VAMP1):c.340+2T>G |
| Spastic paraplegia (due to ZFYVE26) |
rs878855011 |
NM_015346.4(ZFYVE26):c.3373del (p.His1125fs) |
| Spastic paraplegia (due to ZFYVE26) |
rs878855013 |
NM_015346.4(ZFYVE26):c.5485-1del |
| Spinal muscular atrophy (due to VRK1) |
rs137853063 |
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) |
| Spinal muscular atrophy (due to DYNC1H1) |
rs713993043 |
NM_001376.5(DYNC1H1):c.791G>T (p.Arg264Leu) |
| Spinal muscular atrophy with congenital bone fractures 2 (due to ASCC1) |
rs183415577 |
NM_001198800.3(ASCC1):c.382C>T (p.Arg128Ter) |
| Spinal muscular atrophy-progressive myoclonic epilepsy syndrome (due to ASAH1) |
rs145873635 |
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) |
| Spinal muscular atrophy, distal, autosomal recessive (due to IGHMBP2) |
rs137852665 |
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys) |
| Spinal muscular atrophy, distal, autosomal recessive (due to IGHMBP2) |
rs137852667 |
NM_002180.3(IGHMBP2):c.1738G>A |
| Spinal muscular atrophy, distal, autosomal recessive (due to IGHMBP2) |
rs145226920 |
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) |
| Spinal muscular atrophy, distal, autosomal recessive (due to IGHMBP2) |
rs372000714 |
NM_002180.3(IGHMBP2):c.138T>A |
| Spinal muscular atrophy, distal, autosomal recessive (due to IGHMBP2) |
rs724159994 |
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) |
| Spinal muscular atrophy, distal, autosomal recessive (due to IGHMBP2) |
rs780594709 |
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) |
| Spinal muscular atrophy, distal, autosomal recessive, 5 (due to DNAJB2) |
rs730882139 |
NM_006736.6(DNAJB2):c.229+1G>A |
| Spinal muscular atrophy, distal, autosomal recessive, 5 (due to DNAJB2) |
rs730882140 |
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) |
| Spinal muscular atrophy, infantile, James type (due to GARS1) |
rs797044855 |
NM_002047.4(GARS1):c.373G>A (p.Glu125Lys) |
| Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant (due to DYNC1H1) |
rs587780564 |
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) |
| 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) |
| Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant (due to BICD6) |
rs398123030 |
NM_001003800.2(BICD2):c.2321A>G (p.Glu774Gly) |
| Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant (due to BICD13) |
rs797045412 |
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) |
| Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant (due to BICD2) |
rs797045412 |
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) |
| 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) |
rs121907952 |
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) |
| Tay-Sachs disease (due to HEXA) |
rs121907953 |
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) |
| Tay-Sachs disease (due to HEXA) |
rs121907954 |
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) |
| Tay-Sachs disease (due to HEXA) |
rs121907955 |
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) |
| Tay-Sachs disease (due to HEXA) |
rs121907956 |
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) |
| Tay-Sachs disease (due to HEXA) |
rs121907957 |
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) |
| Tay-Sachs disease (due to HEXA) |
rs121907958 |
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) |
| Tay-Sachs disease (due to HEXA) |
rs121907960 |
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) |
| 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) |
rs121907977 |
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) |
| 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) |
rs185429231 |
NM_000520.6(HEXA):c.571-1G>T |
| Tay-Sachs disease (due to HEXA) |
rs28941770 |
NM_000520.6(HEXA):c.533G>A (p.Arg178His) |
| Tay-Sachs disease (due to HEXA) |
rs28941770 |
NM_000520.6(HEXA):c.533G>T (p.Arg178Leu) |
| Tay-Sachs disease (due to HEXA) |
rs28942071 |
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) |
| 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) |
rs387906949 |
NM_000520.6(HEXA):c.173G>A (p.Cys58Tyr) |
| Tay-Sachs disease (due to HEXA) |
rs587779406 |
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) |
| 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) |
rs762374961 |
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) |
| Tay-Sachs disease (due to HEXA) |
rs767041069 |
NM_000520.6(HEXA):c.1330+1G>A |
| Tay-Sachs disease (due to HEXA) |
rs770932296 |
NM_000520.6(HEXA):c.806-7G>A |
| Tay-Sachs disease (due to HEXA) |
rs772180415 |
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) |
| Tay-Sachs disease (due to HEXA) |
rs786204585 |
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) |
| Tay-Sachs disease (due to HEXA) |
rs786204721 |
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) |
| Tay-Sachs disease (due to HEXA) |
rs797044432 |
NM_000520.6(HEXA):c.346+1G>C |
United States (USD)
Singapore (SGD)
Australia (AUD)
Canada (USD)
European Country (EUR)
Hong Kong (HKD)
India (USD)
Indonesia (IDR)
Iran (USD)
Iraq (USD)
Japan (JPY)
Myanmar (USD)
Oman (USD)
Qatar (USD)
Saudi Arabia (USD)
South Korea (USD)
Switzerland (CHF)
Taiwan (USD)
Turkey (USD)
UAE (USD)
United Kingdom (GBP)
International (USD)
