| 597675603 | CV3730792 | single nucleotide variant | NM_005866.4(SIGMAR1):c.*9G>C | not provided [RCV004997679] | uncertain significance | 9 | 34635623 | 34635623 | Human | | name |
| 151661672 | CV1329946 | single nucleotide variant | NM_005866.4(SIGMAR1):c.*27G>A | not provided [RCV001823356] | likely benign | 9 | 34635605 | 34635605 | Human | | name |
| 10398694 | CV204389 | single nucleotide variant | NM_005866.4(SIGMAR1):c.*31A>G | Amyotrophic lateral sclerosis type 16 [RCV000190342]|Autosomal recessive distal spinal muscular atrophy 2 [RCV001515374]|Autosomal recessive distal spinal muscular atrophy 2 [RCV001807120]|not provided [RCV001721241] | benign|uncertain significance | 9 | 34635601 | 34635601 | Human | 2 | name |
| 14721843 | CV638210 | single nucleotide variant | NM_005866.4(SIGMAR1):c.*51G>T | Autosomal recessive distal spinal muscular atrophy 2 [RCV000797276] | uncertain significance | 9 | 34635581 | 34635581 | Human | 1 | name |
| 127253446 | CV1055823 | single nucleotide variant | NM_005866.4(SIGMAR1):c.152-2A>T | Autosomal recessive distal spinal muscular atrophy 2 [RCV001378960] | likely pathogenic | 9 | 34637422 | 34637422 | Human | 1 | name |
| 127336563 | CV1119668 | single nucleotide variant | NM_005866.4(SIGMAR1):c.152-6C>T | Autosomal recessive distal spinal muscular atrophy 2 [RCV001475050] | likely benign | 9 | 34637426 | 34637426 | Human | 1 | name |
| 127285900 | CV1140489 | single nucleotide variant | NM_005866.4(SIGMAR1):c.152-4C>A | Autosomal recessive distal spinal muscular atrophy 2 [RCV001493815] | likely benign | 9 | 34637424 | 34637424 | Human | 1 | name |
| 155691487 | CV1827295 | single nucleotide variant | NM_005866.4(SIGMAR1):c.151+6C>T | Inborn genetic diseases [RCV002392191] | uncertain significance | 9 | 34637541 | 34637541 | Human | 1 | name |
| 156306593 | CV2013773 | single nucleotide variant | NM_005866.4(SIGMAR1):c.353-9G>C | Autosomal recessive distal spinal muscular atrophy 2 [RCV002716308] | likely benign | 9 | 34637098 | 34637098 | Human | 1 | name |
| 10398691 | CV204390 | single nucleotide variant | NM_005866.4(SIGMAR1):c.151+1G>T | Autosomal recessive distal spinal muscular atrophy 2 [RCV000190343] | pathogenic | 9 | 34637546 | 34637546 | Human | 1 | name |
| 156110797 | CV2092883 | single nucleotide variant | NM_005866.4(SIGMAR1):c.446-7C>G | Autosomal recessive distal spinal muscular atrophy 2 [RCV002913768] | likely benign | 9 | 34635865 | 34635865 | Human | 1 | name |
| 597867510 | CV3869303 | single nucleotide variant | NM_005866.4(SIGMAR1):c.445+1G>A | Autosomal recessive distal spinal muscular atrophy 2 [RCV005215233] | pathogenic | 9 | 34636996 | 34636996 | Human | 1 | name |
| 597856268 | CV3870740 | single nucleotide variant | NM_005866.4(SIGMAR1):c.152-7C>T | Autosomal recessive distal spinal muscular atrophy 2 [RCV005228941] | likely benign | 9 | 34637427 | 34637427 | Human | 1 | name |
| 597843491 | CV3878470 | single nucleotide variant | NM_005866.4(SIGMAR1):c.446-7C>T | Autosomal recessive distal spinal muscular atrophy 2 [RCV005226960] | likely benign | 9 | 34635865 | 34635865 | Human | 1 | name |
| 13808434 | CV565878 | single nucleotide variant | NM_005866.4(SIGMAR1):c.446-5C>G | Autosomal recessive distal spinal muscular atrophy 2 [RCV000701632] | likely benign|uncertain significance | 9 | 34635863 | 34635863 | Human | 1 | name |
| 15185793 | CV744472 | single nucleotide variant | NM_005866.4(SIGMAR1):c.445+7A>G | not provided [RCV000908627] | likely benign | 9 | 34636990 | 34636990 | Human | | name |
| 127334122 | CV1140487 | single nucleotide variant | NM_005866.4(SIGMAR1):c.446-10T>C | Autosomal recessive distal spinal muscular atrophy 2 [RCV001490651] | likely benign | 9 | 34635868 | 34635868 | Human | 1 | name |
| 150483334 | CV1245093 | single nucleotide variant | NM_005866.4(SIGMAR1):c.446-44C>G | not provided [RCV001653270] | benign | 9 | 34635902 | 34635902 | Human | | name |
| 152074345 | CV1520909 | single nucleotide variant | NM_005866.4(SIGMAR1):c.352+10A>G | Autosomal recessive distal spinal muscular atrophy 2 [RCV002075524] | likely benign | 9 | 34637210 | 34637210 | Human | 1 | name |
| 152035671 | CV1545795 | single nucleotide variant | NM_005866.4(SIGMAR1):c.353-13G>A | Autosomal recessive distal spinal muscular atrophy 2 [RCV002164897] | likely benign | 9 | 34637102 | 34637102 | Human | 1 | name |
| 152103582 | CV1571945 | single nucleotide variant | NM_005866.4(SIGMAR1):c.445+13G>A | Autosomal recessive distal spinal muscular atrophy 2 [RCV002173418] | likely benign | 9 | 34636984 | 34636984 | Human | 1 | name |
| 152086103 | CV1621186 | single nucleotide variant | NM_005866.4(SIGMAR1):c.446-19G>A | Autosomal recessive distal spinal muscular atrophy 2 [RCV002193658] | likely benign | 9 | 34635877 | 34635877 | Human | 1 | name |
| 152068103 | CV1660204 | single nucleotide variant | NM_005866.4(SIGMAR1):c.151+15G>A | Autosomal recessive distal spinal muscular atrophy 2 [RCV002147703] | benign | 9 | 34637532 | 34637532 | Human | 1 | name |
| 156202017 | CV1952497 | single nucleotide variant | NM_005866.4(SIGMAR1):c.352+16G>C | Autosomal recessive distal spinal muscular atrophy 2 [RCV002574812] | likely benign | 9 | 34637204 | 34637204 | Human | 1 | name |
| 156410959 | CV1966066 | single nucleotide variant | NM_005866.4(SIGMAR1):c.445+17T>A | Autosomal recessive distal spinal muscular atrophy 2 [RCV002587332] | likely benign | 9 | 34636980 | 34636980 | Human | 1 | name |
| 155980388 | CV2025073 | single nucleotide variant | NM_005866.4(SIGMAR1):c.445+14C>T | Autosomal recessive distal spinal muscular atrophy 2 [RCV002755299] | likely benign | 9 | 34636983 | 34636983 | Human | 1 | name |
| 156162836 | CV2056477 | single nucleotide variant | NM_005866.4(SIGMAR1):c.446-16G>A | Autosomal recessive distal spinal muscular atrophy 2 [RCV002801696] | likely benign | 9 | 34635874 | 34635874 | Human | 1 | name |
| 156323117 | CV2067746 | single nucleotide variant | NM_005866.4(SIGMAR1):c.151+19G>A | Autosomal recessive distal spinal muscular atrophy 2 [RCV002834837] | likely benign | 9 | 34637528 | 34637528 | Human | 1 | name |
| 156309264 | CV2085896 | single nucleotide variant | NM_005866.4(SIGMAR1):c.152-16C>T | Autosomal recessive distal spinal muscular atrophy 2 [RCV002898618] | likely benign | 9 | 34637436 | 34637436 | Human | 1 | name |
| 156230916 | CV2140986 | single nucleotide variant | NM_005866.4(SIGMAR1):c.352+12C>T | Autosomal recessive distal spinal muscular atrophy 2 [RCV003007738] | likely benign | 9 | 34637208 | 34637208 | Human | 1 | name |
| 405033774 | CV3105843 | single nucleotide variant | NM_005866.4(SIGMAR1):c.151+16G>A | Autosomal recessive distal spinal muscular atrophy 2 [RCV003796693] | likely benign | 9 | 34637531 | 34637531 | Human | 1 | name |
| 405163279 | CV3110032 | single nucleotide variant | NM_005866.4(SIGMAR1):c.151+16G>C | Autosomal recessive distal spinal muscular atrophy 2 [RCV003802391] | likely benign | 9 | 34637531 | 34637531 | Human | 1 | name |
| 597876345 | CV3871433 | single nucleotide variant | NM_005866.4(SIGMAR1):c.152-15C>T | Autosomal recessive distal spinal muscular atrophy 2 [RCV005216649] | likely benign | 9 | 34637435 | 34637435 | Human | 1 | name |
| 150475413 | CV1237791 | single nucleotide variant | NM_005866.4(SIGMAR1):c.446-257G>A | not provided [RCV001651912] | benign | 9 | 34636115 | 34636115 | Human | | name |
| 150507766 | CV1257220 | single nucleotide variant | NM_005866.4(SIGMAR1):c.445+171C>G | not provided [RCV001678519] | benign | 9 | 34636826 | 34636826 | Human | | name |
| 13210799 | CV424599 | deletion | NM_005866.4(SIGMAR1):c.446-25_*40del | Amyotrophic lateral sclerosis type 16 [RCV000496131] | likely pathogenic | 9 | 34635592 | 34635883 | Human | 1 | name |
| 13471580 | CV459444 | single nucleotide variant | NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000546932]|Inborn genetic diseases [RCV002367851]|not provided [RCV001561644]|not specified [RCV001287959] | benign|likely benign | 9 | 34637692 | 34637692 | Human | 2 | name |
| 152043121 | CV1621805 | single nucleotide variant | NM_005866.4(SIGMAR1):c.18C>T (p.Gly6=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002108008] | likely benign | 9 | 34637680 | 34637680 | Human | 1 | name |
| 127250457 | CV1076426 | single nucleotide variant | NM_005866.4(SIGMAR1):c.30G>T (p.Ala10=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001417592] | likely benign | 9 | 34637668 | 34637668 | Human | 1 | name |
| 127256187 | CV1098096 | single nucleotide variant | NM_005866.4(SIGMAR1):c.39G>C (p.Ala13=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001426763] | likely benign | 9 | 34637659 | 34637659 | Human | 1 | name |
| 152171902 | CV1575656 | single nucleotide variant | NM_005866.4(SIGMAR1):c.45C>G (p.Leu15=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002183660] | likely benign | 9 | 34637653 | 34637653 | Human | 1 | name |
| 156039207 | CV2120323 | single nucleotide variant | NM_005866.4(SIGMAR1):c.48G>A (p.Leu16=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002949550] | likely benign | 9 | 34637650 | 34637650 | Human | 1 | name |
| 155961643 | CV2131899 | single nucleotide variant | NM_005866.4(SIGMAR1):c.84C>T (p.Leu28=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002995186] | likely benign | 9 | 34637614 | 34637614 | Human | 1 | name |
| 404986455 | CV3083612 | single nucleotide variant | NM_005866.4(SIGMAR1):c.63G>A (p.Val21=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003781963] | likely benign | 9 | 34637635 | 34637635 | Human | 1 | name |
| 597880688 | CV3872139 | single nucleotide variant | NM_005866.4(SIGMAR1):c.96G>A (p.Thr32=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV005217191] | likely benign | 9 | 34637602 | 34637602 | Human | 1 | name |
| 13813329 | CV565883 | deletion | NM_005866.4(SIGMAR1):c.13del (p.Val5fs) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000690078] | pathogenic|uncertain significance | 9 | 34637685 | 34637685 | Human | 1 | name |
| 13801448 | CV577120 | single nucleotide variant | NM_005866.4(SIGMAR1):c.5A>C (p.Gln2Pro) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000988175]|Autosomal recessive distal spinal muscular atrophy 2 [RCV001515376]|not provided [RCV000713286]|not specified [RCV001579900] | benign | 9 | 34637693 | 34637693 | Human | 1 | name |
| 14741162 | CV638215 | deletion | NM_005866.4(SIGMAR1):c.19del (p.Arg7fs) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000805664]|Inborn genetic diseases [RCV002422760] | pathogenic|likely pathogenic | 9 | 34637679 | 34637679 | Human | 2 | name |
| 127230648 | CV1076424 | single nucleotide variant | NM_005866.4(SIGMAR1):c.177T>G (p.Ser59=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001394791] | likely benign | 9 | 34637395 | 34637395 | Human | 1 | name |
| 127269697 | CV1076425 | single nucleotide variant | NM_005866.4(SIGMAR1):c.147C>T (p.Tyr49=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001404778] | likely benign | 9 | 34637551 | 34637551 | Human | 1 | name |
| 127306966 | CV1119667 | single nucleotide variant | NM_005866.4(SIGMAR1):c.237G>T (p.Leu79=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001462893] | likely benign | 9 | 34637335 | 34637335 | Human | 1 | name |
| 152082075 | CV1548385 | single nucleotide variant | NM_005866.4(SIGMAR1):c.202C>T (p.Leu68=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002076504] | likely benign | 9 | 34637370 | 34637370 | Human | 1 | name |
| 155931394 | CV1909139 | single nucleotide variant | NM_005866.4(SIGMAR1):c.153G>T (p.Gly51=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002615011] | likely benign|uncertain significance | 9 | 34637419 | 34637419 | Human | 1 | name |
| 156302513 | CV1916184 | single nucleotide variant | NM_005866.4(SIGMAR1):c.297G>T (p.Ser99=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002599241] | likely benign | 9 | 34637275 | 34637275 | Human | 1 | name |
| 156001862 | CV1987860 | single nucleotide variant | NM_005866.4(SIGMAR1):c.198G>C (p.Arg66=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002618487] | likely benign | 9 | 34637374 | 34637374 | Human | 1 | name |
| 156012727 | CV2008941 | single nucleotide variant | NM_005866.4(SIGMAR1):c.291C>T (p.His97=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002690603] | likely benign | 9 | 34637281 | 34637281 | Human | 1 | name |
| 404996686 | CV3085511 | single nucleotide variant | NM_005866.4(SIGMAR1):c.207C>T (p.His69=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003783042] | likely benign | 9 | 34637365 | 34637365 | Human | 1 | name |
| 402501435 | CV3089729 | single nucleotide variant | NM_005866.4(SIGMAR1):c.171C>T (p.Ala57=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003788652] | likely benign | 9 | 34637401 | 34637401 | Human | 1 | name |
| 405018381 | CV3094384 | single nucleotide variant | NM_005866.4(SIGMAR1):c.261T>A (p.Gly87=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003785074] | likely benign | 9 | 34637311 | 34637311 | Human | 1 | name |
| 405018392 | CV3094385 | single nucleotide variant | NM_005866.4(SIGMAR1):c.255T>C (p.Asn85=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003785075] | likely benign | 9 | 34637317 | 34637317 | Human | 1 | name |
| 597840180 | CV3867843 | single nucleotide variant | NM_005866.4(SIGMAR1):c.195G>T (p.Leu65=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV005211039] | likely benign | 9 | 34637377 | 34637377 | Human | 1 | name |
| 597889774 | CV3871236 | single nucleotide variant | NM_005866.4(SIGMAR1):c.288G>T (p.Leu96=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV005218568] | likely benign | 9 | 34637284 | 34637284 | Human | 1 | name |
| 597875665 | CV3871364 | single nucleotide variant | NM_005866.4(SIGMAR1):c.216C>T (p.His72=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV005216578] | likely benign | 9 | 34637356 | 34637356 | Human | 1 | name |
| 13489577 | CV459443 | single nucleotide variant | NM_005866.4(SIGMAR1):c.240G>A (p.Gln80=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000532987]|not provided [RCV001675921]|not specified [RCV001796106] | benign | 9 | 34637332 | 34637332 | Human | 1 | name |
| 13487354 | CV459535 | single nucleotide variant | NM_005866.4(SIGMAR1):c.153G>A (p.Gly51=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000554240]|not provided [RCV001579690]|not specified [RCV001701036] | benign|likely benign | 9 | 34637419 | 34637419 | Human | 1 | name |
| 13611196 | CV524527 | single nucleotide variant | NM_005866.4(SIGMAR1):c.11C>T (p.Ala4Val) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000641752]|Inborn genetic diseases [RCV002343278]|not provided [RCV000992981] | uncertain significance | 9 | 34637687 | 34637687 | Human | 2 | name |
| 15128356 | CV692663 | single nucleotide variant | NM_005866.4(SIGMAR1):c.195G>A (p.Leu65=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000875476] | likely benign | 9 | 34637377 | 34637377 | Human | 1 | name |
| 15101389 | CV767384 | single nucleotide variant | NM_005866.4(SIGMAR1):c.294C>T (p.Ala98=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001406032] | likely benign | 9 | 34637278 | 34637278 | Human | 1 | name |
| 126742506 | CV1008630 | single nucleotide variant | NM_005866.4(SIGMAR1):c.89T>C (p.Leu30Pro) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001325492] | uncertain significance | 9 | 34637609 | 34637609 | Human | 1 | name |
| 127235128 | CV1076422 | single nucleotide variant | NM_005866.4(SIGMAR1):c.456A>G (p.Val152=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001414364]|SIGMAR1-related disorder [RCV003963311] | likely benign | 9 | 34635848 | 34635848 | Human | 2 | name , trait , alternate_id |
| 127235534 | CV1076423 | single nucleotide variant | NM_005866.4(SIGMAR1):c.331T>C (p.Leu111=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001396702] | likely benign | 9 | 34637241 | 34637241 | Human | 1 | name |
| 127271432 | CV1098095 | single nucleotide variant | NM_005866.4(SIGMAR1):c.528C>T (p.Gly176=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001430959] | likely benign | 9 | 34635776 | 34635776 | Human | 1 | name |
| 127319372 | CV1119666 | single nucleotide variant | NM_005866.4(SIGMAR1):c.519C>T (p.Tyr173=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001466524] | likely benign | 9 | 34635785 | 34635785 | Human | 1 | name |
| 127300165 | CV1140486 | single nucleotide variant | NM_005866.4(SIGMAR1):c.543C>T (p.Thr181=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001498534] | likely benign | 9 | 34635761 | 34635761 | Human | 1 | name |
| 127326329 | CV1140488 | single nucleotide variant | NM_005866.4(SIGMAR1):c.300G>A (p.Leu100=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001506259] | likely benign | 9 | 34637272 | 34637272 | Human | 1 | name |
| 151886138 | CV1441379 | single nucleotide variant | NM_005866.4(SIGMAR1):c.86G>A (p.Trp29Ter) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001942103] | pathogenic | 9 | 34637612 | 34637612 | Human | 1 | name |
| 152104810 | CV1536567 | single nucleotide variant | NM_005866.4(SIGMAR1):c.369G>A (p.Glu123=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002173570] | likely benign | 9 | 34637073 | 34637073 | Human | 1 | name |
| 152073257 | CV1556580 | single nucleotide variant | NM_005866.4(SIGMAR1):c.375G>T (p.Ser125=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002111750] | likely benign | 9 | 34637067 | 34637067 | Human | 1 | name |
| 152049996 | CV1615232 | single nucleotide variant | NM_005866.4(SIGMAR1):c.372C>T (p.Ile124=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002089032] | likely benign | 9 | 34637070 | 34637070 | Human | 1 | name |
| 152125821 | CV1630305 | single nucleotide variant | NM_005866.4(SIGMAR1):c.639G>A (p.Glu213=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002154857]|not provided [RCV003426298] | likely benign | 9 | 34635665 | 34635665 | Human | 1 | name |
| 152118263 | CV1659005 | single nucleotide variant | NM_005866.4(SIGMAR1):c.348C>T (p.His116=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002175223] | likely benign | 9 | 34637224 | 34637224 | Human | 1 | name |
| 155698040 | CV1816827 | single nucleotide variant | NM_005866.4(SIGMAR1):c.81G>T (p.Trp27Cys) | Inborn genetic diseases [RCV002427924] | uncertain significance | 9 | 34637617 | 34637617 | Human | 1 | name |
| 155945882 | CV1875512 | single nucleotide variant | NM_005866.4(SIGMAR1):c.462C>T (p.His154=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003073843] | likely benign | 9 | 34635842 | 34635842 | Human | 1 | name |
| 156065513 | CV1878147 | single nucleotide variant | NM_005866.4(SIGMAR1):c.567T>C (p.Thr189=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003037405] | likely benign | 9 | 34635737 | 34635737 | Human | 1 | name |
| 156360176 | CV1910865 | single nucleotide variant | NM_005866.4(SIGMAR1):c.351G>T (p.Ser117=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002632621] | uncertain significance | 9 | 34637221 | 34637221 | Human | 1 | name |
| 10408168 | CV205762 | duplication | NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs) | Amyotrophic lateral sclerosis type 16 [RCV000191128]|Autosomal recessive distal spinal muscular atrophy 2 [RCV000819808]|not provided [RCV004721288] | pathogenic | 9 | 34637288 | 34637289 | Human | 2 | name |
| 155977569 | CV2073172 | single nucleotide variant | NM_005866.4(SIGMAR1):c.56C>T (p.Ala19Val) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002842363] | uncertain significance | 9 | 34637642 | 34637642 | Human | 1 | name |
| 156166258 | CV2091851 | single nucleotide variant | NM_005866.4(SIGMAR1):c.660C>T (p.Gly220=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002891182] | likely benign | 9 | 34635644 | 34635644 | Human | 1 | name |
| 155947177 | CV2262578 | single nucleotide variant | NM_005866.4(SIGMAR1):c.82C>G (p.Leu28Val) | Inborn genetic diseases [RCV002839960] | uncertain significance | 9 | 34637616 | 34637616 | Human | 1 | name |
| 404991416 | CV3091300 | single nucleotide variant | NM_005866.4(SIGMAR1):c.600C>T (p.Phe200=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003792773] | likely benign | 9 | 34635704 | 34635704 | Human | 1 | name |
| 402483380 | CV3093576 | single nucleotide variant | NM_005866.4(SIGMAR1):c.309T>C (p.Tyr103=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003786774] | likely benign | 9 | 34637263 | 34637263 | Human | 1 | name |
| 405068740 | CV3103552 | single nucleotide variant | NM_005866.4(SIGMAR1):c.618T>C (p.Tyr206=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003799382] | likely benign | 9 | 34635686 | 34635686 | Human | 1 | name |
| 405156078 | CV3109288 | single nucleotide variant | NM_005866.4(SIGMAR1):c.546G>A (p.Leu182=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003801811] | likely benign | 9 | 34635758 | 34635758 | Human | 1 | name |
| 405750131 | CV3311545 | single nucleotide variant | NM_005866.4(SIGMAR1):c.97C>G (p.Gln33Glu) | Inborn genetic diseases [RCV004453657] | uncertain significance | 9 | 34637601 | 34637601 | Human | 1 | name |
| 596932414 | CV3539034 | single nucleotide variant | NM_005866.4(SIGMAR1):c.88C>G (p.Leu30Val) | not provided [RCV004793160] | uncertain significance | 9 | 34637610 | 34637610 | Human | | name |
| 597926264 | CV3873960 | single nucleotide variant | NM_005866.4(SIGMAR1):c.561C>T (p.Ala187=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV005224231] | likely benign | 9 | 34635743 | 34635743 | Human | 1 | name |
| 597926316 | CV3873967 | single nucleotide variant | NM_005866.4(SIGMAR1):c.339C>A (p.Ser113=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV005224238] | likely benign | 9 | 34637233 | 34637233 | Human | 1 | name |
| 597929300 | CV3879165 | single nucleotide variant | NM_005866.4(SIGMAR1):c.523C>A (p.Arg175=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV005224662] | likely benign | 9 | 34635781 | 34635781 | Human | 1 | name |
| 13493006 | CV460001 | single nucleotide variant | NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000557866]|not provided [RCV001579848]|not specified [RCV001700205] | benign|likely benign | 9 | 34635752 | 34635752 | Human | 1 | name |
| 13611202 | CV524830 | single nucleotide variant | NM_005866.4(SIGMAR1):c.453G>A (p.Thr151=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000641754] | likely benign | 9 | 34635851 | 34635851 | Human | 1 | name |
| 13611208 | CV524937 | single nucleotide variant | NM_005866.4(SIGMAR1):c.339C>T (p.Ser113=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000641756]|Inborn genetic diseases [RCV002458060] | likely benign | 9 | 34637233 | 34637233 | Human | 2 | name |
| 13611193 | CV524939 | single nucleotide variant | NM_005866.4(SIGMAR1):c.92G>A (p.Gly31Asp) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000641751]|Inborn genetic diseases [RCV002369686]|not provided [RCV003225105] | uncertain significance | 9 | 34637606 | 34637606 | Human | 2 | name |
| 13611205 | CV525090 | single nucleotide variant | NM_005866.4(SIGMAR1):c.303C>T (p.Ser101=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000641755] | likely benign | 9 | 34637269 | 34637269 | Human | 1 | name |
| 13803533 | CV563216 | single nucleotide variant | NM_005866.4(SIGMAR1):c.79T>A (p.Trp27Arg) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000684955] | uncertain significance | 9 | 34637619 | 34637619 | Human | 1 | name |
| 13810286 | CV563941 | single nucleotide variant | NM_005866.4(SIGMAR1):c.61G>C (p.Val21Leu) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000688166] | uncertain significance | 9 | 34637637 | 34637637 | Human | 1 | name |
| 15153381 | CV700985 | single nucleotide variant | NM_005866.4(SIGMAR1):c.366T>C (p.Ala122=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000946070] | likely benign | 9 | 34637076 | 34637076 | Human | 1 | name |
| 15166919 | CV737113 | single nucleotide variant | NM_005866.4(SIGMAR1):c.627C>A (p.Gly209=) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001497545] | likely benign | 9 | 34635677 | 34635677 | Human | 1 | name |
| 38481098 | CV925566 | single nucleotide variant | NM_005866.4(SIGMAR1):c.98A>C (p.Gln33Pro) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001217852] | uncertain significance | 9 | 34637600 | 34637600 | Human | 1 | name |
| 38492807 | CV925567 | single nucleotide variant | NM_005866.4(SIGMAR1):c.59C>A (p.Ala20Glu) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001223812]|Inborn genetic diseases [RCV002563649] | uncertain significance | 9 | 34637639 | 34637639 | Human | 2 | name |
| 126748066 | CV993438 | single nucleotide variant | NM_005866.4(SIGMAR1):c.72G>C (p.Gln24His) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001296855] | uncertain significance | 9 | 34637626 | 34637626 | Human | 1 | name |
| 126750844 | CV993439 | single nucleotide variant | NM_005866.4(SIGMAR1):c.61G>A (p.Val21Met) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001297404]|Inborn genetic diseases [RCV002357088] | uncertain significance | 9 | 34637637 | 34637637 | Human | 2 | name |
| 126908369 | CV1046160 | single nucleotide variant | NM_005866.4(SIGMAR1):c.118G>A (p.Glu40Lys) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001367784] | uncertain significance | 9 | 34637580 | 34637580 | Human | 1 | name |
| 151857310 | CV1363785 | single nucleotide variant | NM_005866.4(SIGMAR1):c.209C>G (p.Pro70Arg) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001904844]|Inborn genetic diseases [RCV002547995] | uncertain significance | 9 | 34637363 | 34637363 | Human | 2 | name |
| 151735714 | CV1440756 | single nucleotide variant | NM_005866.4(SIGMAR1):c.124A>G (p.Ile42Val) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001911374] | uncertain significance | 9 | 34637574 | 34637574 | Human | 1 | name |
| 151740349 | CV1451732 | single nucleotide variant | NM_005866.4(SIGMAR1):c.106G>C (p.Val36Leu) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002022265] | uncertain significance | 9 | 34637592 | 34637592 | Human | 1 | name |
| 151806328 | CV1462543 | single nucleotide variant | NM_005866.4(SIGMAR1):c.152G>A (p.Gly51Glu) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001991408] | uncertain significance | 9 | 34637420 | 34637420 | Human | 1 | name |
| 155727507 | CV1848284 | single nucleotide variant | NM_005866.4(SIGMAR1):c.244G>A (p.Val82Met) | Inborn genetic diseases [RCV002450502] | uncertain significance | 9 | 34637328 | 34637328 | Human | 1 | name |
| 155797985 | CV1860569 | single nucleotide variant | NM_005866.4(SIGMAR1):c.200G>A (p.Arg67Gln) | not provided [RCV002467211] | uncertain significance | 9 | 34637372 | 34637372 | Human | | name |
| 156185821 | CV1867216 | single nucleotide variant | NM_005866.4(SIGMAR1):c.270G>A (p.Met90Ile) | not provided [RCV002508862] | uncertain significance | 9 | 34637302 | 34637302 | Human | | name |
| 156411789 | CV1893973 | single nucleotide variant | NM_005866.4(SIGMAR1):c.218T>C (p.Val73Ala) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003072628] | uncertain significance | 9 | 34637354 | 34637354 | Human | 1 | name |
| 155959144 | CV2062863 | single nucleotide variant | NM_005866.4(SIGMAR1):c.130C>G (p.Gln44Glu) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002816681] | uncertain significance | 9 | 34637568 | 34637568 | Human | 1 | name |
| 156037024 | CV2089446 | single nucleotide variant | NM_005866.4(SIGMAR1):c.212G>C (p.Gly71Ala) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002867288] | uncertain significance | 9 | 34637360 | 34637360 | Human | 1 | name |
| 156092034 | CV2106195 | single nucleotide variant | NM_005866.4(SIGMAR1):c.292G>T (p.Ala98Ser) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002952396] | uncertain significance | 9 | 34637280 | 34637280 | Human | 1 | name |
| 596932413 | CV3539033 | single nucleotide variant | NM_005866.4(SIGMAR1):c.196C>T (p.Arg66Trp) | not provided [RCV004793159] | uncertain significance | 9 | 34637376 | 34637376 | Human | | name |
| 597709059 | CV3599224 | single nucleotide variant | NM_005866.4(SIGMAR1):c.281G>A (p.Cys94Tyr) | Inborn genetic diseases [RCV004957779] | uncertain significance | 9 | 34637291 | 34637291 | Human | 1 | name |
| 13801394 | CV563214 | single nucleotide variant | NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln) | Amyotrophic lateral sclerosis type 16 [RCV002272335]|Autosomal recessive distal spinal muscular atrophy 2 [RCV000697805] | pathogenic|likely pathogenic|uncertain significance | 9 | 34637378 | 34637378 | Human | 2 | name |
| 13810886 | CV565882 | single nucleotide variant | NM_005866.4(SIGMAR1):c.247T>C (p.Phe83Leu) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000702807] | uncertain significance | 9 | 34637325 | 34637325 | Human | 1 | name |
| 14396625 | CV612285 | single nucleotide variant | NM_005866.4(SIGMAR1):c.238C>T (p.Gln80Ter) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000761539] | pathogenic | 9 | 34637334 | 34637334 | Human | 1 | name |
| 14719447 | CV638213 | single nucleotide variant | NM_005866.4(SIGMAR1):c.259G>A (p.Gly87Ser) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000796209] | uncertain significance | 9 | 34637313 | 34637313 | Human | 1 | name |
| 14710187 | CV638214 | single nucleotide variant | NM_005866.4(SIGMAR1):c.140G>C (p.Arg47Pro) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000809537] | uncertain significance | 9 | 34637558 | 34637558 | Human | 1 | name |
| 26902109 | CV836074 | single nucleotide variant | NM_005866.4(SIGMAR1):c.279G>A (p.Met93Ile) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001071784] | uncertain significance | 9 | 34637293 | 34637293 | Human | 1 | name |
| 26898803 | CV836075 | single nucleotide variant | NM_005866.4(SIGMAR1):c.254A>G (p.Asn85Ser) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001049022]|Inborn genetic diseases [RCV002429630] | uncertain significance | 9 | 34637318 | 34637318 | Human | 2 | name |
| 38467066 | CV934743 | single nucleotide variant | NM_005866.4(SIGMAR1):c.259G>C (p.Gly87Arg) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001201955]|not specified [RCV005236677] | uncertain significance | 9 | 34637313 | 34637313 | Human | 1 | name |
| 38481117 | CV934744 | single nucleotide variant | NM_005866.4(SIGMAR1):c.250G>C (p.Val84Leu) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001206695] | uncertain significance | 9 | 34637322 | 34637322 | Human | 1 | name |
| 38470704 | CV934745 | single nucleotide variant | NM_005866.4(SIGMAR1):c.208C>T (p.Pro70Ser) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001213359] | uncertain significance | 9 | 34637364 | 34637364 | Human | 1 | name |
| 38498603 | CV946598 | single nucleotide variant | NM_005866.4(SIGMAR1):c.170C>G (p.Ala57Gly) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001227855] | uncertain significance | 9 | 34637402 | 34637402 | Human | 1 | name |
| 40887047 | CV973717 | microsatellite | NM_005866.4(SIGMAR1):c.14_20dup (p.Arg8fs) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001880117]|Inborn genetic diseases [RCV001266435] | pathogenic | 9 | 34637677 | 34637678 | Human | | name |
| 126751837 | CV1008629 | single nucleotide variant | NM_005866.4(SIGMAR1):c.553G>C (p.Ala185Pro) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001316192]|Autosomal recessive distal spinal muscular atrophy 2 [RCV005409799] | uncertain significance | 9 | 34635751 | 34635751 | Human | 1 | name |
| 126769092 | CV1029184 | single nucleotide variant | NM_005866.4(SIGMAR1):c.511G>T (p.Val171Leu) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001343734] | uncertain significance | 9 | 34635793 | 34635793 | Human | 1 | name |
| 126921220 | CV1046159 | single nucleotide variant | NM_005866.4(SIGMAR1):c.631C>T (p.Arg211Trp) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001363350] | uncertain significance | 9 | 34635673 | 34635673 | Human | 1 | name |
| 127251443 | CV1055822 | single nucleotide variant | NM_005866.4(SIGMAR1):c.492G>A (p.Trp164Ter) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001378556] | pathogenic|likely pathogenic | 9 | 34635812 | 34635812 | Human | 1 | name |
| 151664388 | CV1332548 | single nucleotide variant | NM_005866.4(SIGMAR1):c.338C>G (p.Ser113Cys) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001829268] | uncertain significance | 9 | 34637234 | 34637234 | Human | 1 | name |
| 151770999 | CV1360556 | single nucleotide variant | NM_005866.4(SIGMAR1):c.575G>A (p.Ser192Asn) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001864070] | uncertain significance | 9 | 34635729 | 34635729 | Human | 1 | name |
| 151861514 | CV1374235 | single nucleotide variant | NM_005866.4(SIGMAR1):c.452C>T (p.Thr151Met) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001938604]|Inborn genetic diseases [RCV002334889] | uncertain significance | 9 | 34635852 | 34635852 | Human | 2 | name |
| 151741218 | CV1392399 | single nucleotide variant | NM_005866.4(SIGMAR1):c.554C>T (p.Ala185Val) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001871039]|Inborn genetic diseases [RCV002343949] | uncertain significance | 9 | 34635750 | 34635750 | Human | 2 | name |
| 151805423 | CV1440562 | single nucleotide variant | NM_005866.4(SIGMAR1):c.470G>C (p.Gly157Ala) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001932693] | uncertain significance | 9 | 34635834 | 34635834 | Human | 1 | name |
| 151745308 | CV1460906 | single nucleotide variant | NM_005866.4(SIGMAR1):c.523C>T (p.Arg175Trp) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001871446] | uncertain significance | 9 | 34635781 | 34635781 | Human | 1 | name |
| 151716183 | CV1470554 | single nucleotide variant | NM_005866.4(SIGMAR1):c.482C>A (p.Ala161Asp) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001909001] | uncertain significance | 9 | 34635822 | 34635822 | Human | 1 | name |
| 151783096 | CV1474075 | single nucleotide variant | NM_005866.4(SIGMAR1):c.510G>A (p.Met170Ile) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001875547] | uncertain significance | 9 | 34635794 | 34635794 | Human | 1 | name |
| 151756572 | CV1499023 | single nucleotide variant | NM_005866.4(SIGMAR1):c.496C>T (p.Pro166Ser) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002023903] | uncertain significance | 9 | 34635808 | 34635808 | Human | 1 | name |
| 153346501 | CV1691781 | single nucleotide variant | NM_005866.4(SIGMAR1):c.637G>A (p.Glu213Lys) | Amyotrophic lateral sclerosis type 16 [RCV002273264] | likely pathogenic | 9 | 34635667 | 34635667 | Human | 1 | name |
| 155738135 | CV1772928 | single nucleotide variant | NM_005866.4(SIGMAR1):c.623G>C (p.Arg208Pro) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002302127] | uncertain significance | 9 | 34635681 | 34635681 | Human | 1 | name |
| 155734765 | CV1799695 | single nucleotide variant | NM_005866.4(SIGMAR1):c.520G>A (p.Gly174Ser) | Autosomal recessive distal spinal muscular atrophy 2 [RCV005215826]|Inborn genetic diseases [RCV002340777] | uncertain significance | 9 | 34635784 | 34635784 | Human | 2 | name |
| 155681561 | CV1807716 | single nucleotide variant | NM_005866.4(SIGMAR1):c.617A>C (p.Tyr206Ser) | Inborn genetic diseases [RCV002353742] | uncertain significance | 9 | 34635687 | 34635687 | Human | 1 | name |
| 155797737 | CV1860458 | single nucleotide variant | NM_005866.4(SIGMAR1):c.605C>T (p.Thr202Ile) | not provided [RCV002467100] | uncertain significance | 9 | 34635699 | 34635699 | Human | | name |
| 156374640 | CV1871731 | single nucleotide variant | NM_005866.4(SIGMAR1):c.524G>A (p.Arg175Gln) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003066602] | uncertain significance | 9 | 34635780 | 34635780 | Human | 1 | name |
| 156165700 | CV1929962 | single nucleotide variant | NM_005866.4(SIGMAR1):c.356G>A (p.Arg119His) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002624541] | uncertain significance | 9 | 34637086 | 34637086 | Human | 1 | name |
| 156126344 | CV1930584 | single nucleotide variant | NM_005866.4(SIGMAR1):c.571T>C (p.Phe191Leu) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002640528] | uncertain significance | 9 | 34635733 | 34635733 | Human | 1 | name |
| 155955999 | CV2014304 | single nucleotide variant | NM_005866.4(SIGMAR1):c.311T>C (p.Val104Ala) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002686268] | uncertain significance | 9 | 34637261 | 34637261 | Human | 1 | name |
| 156309501 | CV2063301 | single nucleotide variant | NM_005866.4(SIGMAR1):c.530T>C (p.Val177Ala) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002834036] | uncertain significance | 9 | 34635774 | 34635774 | Human | 1 | name |
| 156238946 | CV2081994 | single nucleotide variant | NM_005866.4(SIGMAR1):c.562G>A (p.Asp188Asn) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002876524] | uncertain significance | 9 | 34635742 | 34635742 | Human | 1 | name |
| 156043461 | CV2188116 | single nucleotide variant | NM_005866.4(SIGMAR1):c.308A>G (p.Tyr103Cys) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003036659] | uncertain significance | 9 | 34637264 | 34637264 | Human | 1 | name |
| 156036528 | CV2303741 | single nucleotide variant | NM_005866.4(SIGMAR1):c.380C>T (p.Thr127Ile) | Inborn genetic diseases [RCV002910322] | uncertain significance | 9 | 34637062 | 34637062 | Human | 1 | name |
| 401855624 | CV2753042 | single nucleotide variant | NM_005866.4(SIGMAR1):c.446G>A (p.Gly149Glu) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003338097] | uncertain significance | 9 | 34635858 | 34635858 | Human | 1 | name |
| 401855703 | CV2753121 | single nucleotide variant | NM_005866.4(SIGMAR1):c.391G>A (p.Gly131Ser) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003338177] | uncertain significance | 9 | 34637051 | 34637051 | Human | 1 | name |
| 401961741 | CV2844063 | single nucleotide variant | NM_005866.4(SIGMAR1):c.626G>A (p.Gly209Asp) | not provided [RCV003481903] | uncertain significance | 9 | 34635678 | 34635678 | Human | | name |
| 405091209 | CV3105034 | single nucleotide variant | NM_005866.4(SIGMAR1):c.374C>A (p.Ser125Ter) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003800917] | pathogenic | 9 | 34637068 | 34637068 | Human | 1 | name |
| 597834917 | CV3864392 | single nucleotide variant | NM_005866.4(SIGMAR1):c.403C>T (p.Gln135Ter) | Autosomal recessive distal spinal muscular atrophy 2 [RCV005210028] | pathogenic | 9 | 34637039 | 34637039 | Human | 1 | name |
| 8602161 | CV39194 | single nucleotide variant | NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln) | Amyotrophic lateral sclerosis type 16 [RCV000023162]|Autosomal recessive distal spinal muscular atrophy 2 [RCV001852015]|Inborn genetic diseases [RCV002444439] | pathogenic | 9 | 34637268 | 34637268 | Human | 3 | name |
| 616933241 | CV4012863 | single nucleotide variant | NM_005866.4(SIGMAR1):c.521G>T (p.Gly174Val) | Amyotrophic lateral sclerosis type 16 [RCV005410327] | uncertain significance | 9 | 34635783 | 34635783 | Human | 1 | name |
| 13485174 | CV441330 | single nucleotide variant | NM_005866.4(SIGMAR1):c.545T>C (p.Leu182Pro) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000691741]|not specified [RCV000518663] | uncertain significance | 9 | 34635759 | 34635759 | Human | 1 | name |
| 13466281 | CV459438 | single nucleotide variant | NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000543324]|Inborn genetic diseases [RCV002330884]|not provided [RCV001662555] | likely benign|uncertain significance | 9 | 34635841 | 34635841 | Human | 2 | name |
| 13487415 | CV459999 | single nucleotide variant | NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000531796]|not provided [RCV001722482]|not specified [RCV001662556] | benign|likely benign | 9 | 34635682 | 34635682 | Human | 1 | name |
| 13527868 | CV513300 | single nucleotide variant | NM_005866.4(SIGMAR1):c.416G>T (p.Gly139Val) | not specified [RCV000625790] | likely pathogenic|uncertain significance | 9 | 34637026 | 34637026 | Human | | name |
| 13611199 | CV525087 | single nucleotide variant | NM_005866.4(SIGMAR1):c.344G>T (p.Gly115Val) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000641753] | uncertain significance | 9 | 34637228 | 34637228 | Human | 1 | name |
| 13820011 | CV563927 | single nucleotide variant | NM_005866.4(SIGMAR1):c.632G>A (p.Arg211Gln) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000694694]|Inborn genetic diseases [RCV004025212] | likely benign|uncertain significance | 9 | 34635672 | 34635672 | Human | 2 | name |
| 13812679 | CV569005 | single nucleotide variant | NM_005866.4(SIGMAR1):c.623G>A (p.Arg208Gln) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000689613] | uncertain significance | 9 | 34635681 | 34635681 | Human | 1 | name |
| 13812235 | CV569006 | single nucleotide variant | NM_005866.4(SIGMAR1):c.298C>G (p.Leu100Val) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000689312]|Inborn genetic diseases [RCV002440439] | uncertain significance | 9 | 34637274 | 34637274 | Human | 2 | name |
| 14715362 | CV638211 | single nucleotide variant | NM_005866.4(SIGMAR1):c.595C>T (p.Leu199Phe) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000811197]|Inborn genetic diseases [RCV002352411] | uncertain significance | 9 | 34635709 | 34635709 | Human | 2 | name |
| 14729355 | CV638212 | single nucleotide variant | NM_005866.4(SIGMAR1):c.529G>A (p.Val177Ile) | Autosomal recessive distal spinal muscular atrophy 2 [RCV000816920]|Inborn genetic diseases [RCV002537410] | uncertain significance | 9 | 34635775 | 34635775 | Human | 2 | name |
| 26907762 | CV836071 | single nucleotide variant | NM_005866.4(SIGMAR1):c.553G>A (p.Ala185Thr) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001038111] | uncertain significance | 9 | 34635751 | 34635751 | Human | 1 | name |
| 26915374 | CV836072 | single nucleotide variant | NM_005866.4(SIGMAR1):c.476C>T (p.Ala159Val) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001055669] | uncertain significance | 9 | 34635828 | 34635828 | Human | 1 | name |
| 26890112 | CV836073 | single nucleotide variant | NM_005866.4(SIGMAR1):c.463G>T (p.Gly155Trp) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001045880]|Inborn genetic diseases [RCV002327291]|not provided [RCV004822293] | uncertain significance | 9 | 34635841 | 34635841 | Human | 2 | name |
| 28876861 | CV861360 | single nucleotide variant | NM_005866.4(SIGMAR1):c.451A>G (p.Thr151Ala) | Amyotrophic lateral sclerosis type 16 [RCV001095535] | likely pathogenic | 9 | 34635853 | 34635853 | Human | 1 | name |
| 28876855 | CV861361 | single nucleotide variant | NM_005866.4(SIGMAR1):c.448G>A (p.Glu150Lys) | Amyotrophic lateral sclerosis type 16 [RCV001095534]|Autosomal recessive distal spinal muscular atrophy 2 [RCV001856288] | likely pathogenic | 9 | 34635856 | 34635856 | Human | 2 | name |
| 38480541 | CV934741 | single nucleotide variant | NM_005866.4(SIGMAR1):c.652C>T (p.Leu218Phe) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001206435] | uncertain significance | 9 | 34635652 | 34635652 | Human | 1 | name |
| 38486879 | CV934742 | single nucleotide variant | NM_005866.4(SIGMAR1):c.614C>T (p.Ser205Phe) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001209084] | uncertain significance | 9 | 34635690 | 34635690 | Human | 1 | name |
| 38496849 | CV946597 | single nucleotide variant | NM_005866.4(SIGMAR1):c.359A>G (p.Tyr120Cys) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001226670] | uncertain significance | 9 | 34637083 | 34637083 | Human | 1 | name |
| 616933146 | CV1275220 | deletion | NM_005866.4(SIGMAR1):c.109_110del (p.Phe37fs) | Autosomal recessive distal spinal muscular atrophy 2 [RCV005409833] | likely pathogenic | 9 | 34637588 | 34637589 | Human | 1 | name |
| 156111106 | CV2140161 | deletion | NM_005866.4(SIGMAR1):c.125_126del (p.Ile42fs) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003002598] | pathogenic | 9 | 34637572 | 34637573 | Human | 1 | name |
| 597840569 | CV3864502 | deletion | NM_005866.4(SIGMAR1):c.217_220del (p.Val73fs) | Autosomal recessive distal spinal muscular atrophy 2 [RCV005211113] | pathogenic | 9 | 34637352 | 34637355 | Human | 1 | name |
| 151847235 | CV1514949 | deletion | NM_005866.4(SIGMAR1):c.656_657del (p.Phe219fs) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001978447] | uncertain significance | 9 | 34635647 | 34635648 | Human | 1 | name |
| 156137357 | CV1962986 | deletion | NM_005866.4(SIGMAR1):c.173_175del (p.Phe58del) | Autosomal recessive distal spinal muscular atrophy 2 [RCV002572445] | uncertain significance | 9 | 34637397 | 34637399 | Human | 1 | name |
| 405065786 | CV3103359 | deletion | NM_005866.4(SIGMAR1):c.456_471del (p.Val153fs) | Autosomal recessive distal spinal muscular atrophy 2 [RCV003799189] | pathogenic | 9 | 34635833 | 34635848 | Human | 1 | name |
| 13210915 | CV424598 | deletion | NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs) | Amyotrophic lateral sclerosis type 16 [RCV000496171]|Autosomal recessive distal spinal muscular atrophy 2 [RCV002527125] | likely pathogenic|uncertain significance | 9 | 34635728 | 34635743 | Human | 2 | name |
| 151843287 | CV1418423 | deletion | NM_005866.4(SIGMAR1):c.550_561del (p.Phe184_Ala187del) | Autosomal recessive distal spinal muscular atrophy 2 [RCV001903113] | uncertain significance | 9 | 34635743 | 34635754 | Human | 1 | name |
| 401773851 | CV2691429 | duplication | NM_005866.4(SIGMAR1):c.47_70dup (p.Thr23_Gln24insLeuAlaValAlaAlaValLeuThr) | Inborn genetic diseases [RCV003285544] | uncertain significance | 9 | 34637627 | 34637628 | Human | 1 | name |
