| 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 |
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