| 405272574 | CV3210123 | single nucleotide variant | NM_024057.4(NUP37):c.156+7C>A | NUP37-related disorder [RCV003914372] | likely benign | 12 | 102118356 | 102118356 | Human | | name , trait , alternate_id |
| 405255743 | CV3210793 | single nucleotide variant | NM_024057.4(NUP37):c.723-7C>A | NUP37-related disorder [RCV003939306] | benign | 12 | 102076854 | 102076854 | Human | | name , trait , alternate_id |
| 405284432 | CV3213721 | single nucleotide variant | NM_024057.4(NUP37):c.156+9A>G | NUP37-related disorder [RCV003922279] | benign | 12 | 102118354 | 102118354 | Human | | name , trait , alternate_id |
| 598217606 | CV3891514 | single nucleotide variant | NM_024057.4(NUP37):c.354+1G>A | Microcephaly 24, primary, autosomal recessive [RCV005252356] | pathogenic | 12 | 102101031 | 102101031 | Human | 1 | name |
| 152983175 | CV1678007 | deletion | NM_024057.4(NUP37):c.153_156+3del | Microcephaly 24, primary, autosomal recessive [RCV002250162] | pathogenic | 12 | 102118360 | 102118366 | Human | 1 | name |
| 401932308 | CV2816782 | single nucleotide variant | NM_024057.4(NUP37):c.150G>A (p.Thr50=) | NUP37-related disorder [RCV003946526]|not provided [RCV003391960] | likely benign | 12 | 102118369 | 102118369 | Human | 1 | name , trait , alternate_id |
| 405275576 | CV3199381 | single nucleotide variant | NM_024057.4(NUP37):c.315A>G (p.Arg105=) | NUP37-related disorder [RCV003916794] | benign | 12 | 102101071 | 102101071 | Human | | name , trait , alternate_id |
| 598235259 | CV4004804 | single nucleotide variant | NM_024057.4(NUP37):c.88G>A (p.Gly30Arg) | not specified [RCV005381983] | uncertain significance | 12 | 102118431 | 102118431 | Human | | name |
| 155917512 | CV2278793 | single nucleotide variant | NM_024057.4(NUP37):c.212A>G (p.His71Arg) | not specified [RCV004134970] | uncertain significance | 12 | 102112177 | 102112177 | Human | | name |
| 155921006 | CV2350597 | single nucleotide variant | NM_024057.4(NUP37):c.128A>G (p.Tyr43Cys) | not specified [RCV004204943] | uncertain significance | 12 | 102118391 | 102118391 | Human | | name |
| 329360217 | CV2458624 | single nucleotide variant | NM_024057.4(NUP37):c.137T>C (p.Ile46Thr) | not specified [RCV004268297] | uncertain significance | 12 | 102118382 | 102118382 | Human | | name |
| 405680376 | CV3352428 | single nucleotide variant | NM_024057.4(NUP37):c.148A>G (p.Thr50Ala) | not specified [RCV004488561] | uncertain significance | 12 | 102118371 | 102118371 | Human | | name |
| 405680382 | CV3352429 | single nucleotide variant | NM_024057.4(NUP37):c.149C>T (p.Thr50Met) | not specified [RCV004488562] | uncertain significance | 12 | 102118370 | 102118370 | Human | | name |
| 407522451 | CV3458975 | single nucleotide variant | NM_024057.4(NUP37):c.251C>T (p.Thr84Ile) | not specified [RCV004652744] | uncertain significance | 12 | 102112138 | 102112138 | Human | | name |
| 597664457 | CV3570038 | single nucleotide variant | NM_024057.4(NUP37):c.172G>A (p.Val58Ile) | not specified [RCV004835451] | likely benign | 12 | 102112217 | 102112217 | Human | | name |
| 598235244 | CV4004802 | single nucleotide variant | NM_024057.4(NUP37):c.194C>T (p.Thr65Ile) | not specified [RCV005381981] | uncertain significance | 12 | 102112195 | 102112195 | Human | | name |
| 21075008 | CV798649 | duplication | NM_024057.4(NUP37):c.225dup (p.Asp76Ter) | Microcephaly 24, primary, autosomal recessive [RCV000995823] | pathogenic | 12 | 102112163 | 102112164 | Human | 1 | name |
| 126739910 | CV1017551 | single nucleotide variant | NM_024057.4(NUP37):c.436G>A (p.Asp146Asn) | Microcephaly 24, primary, autosomal recessive [RCV001329309] | uncertain significance | 12 | 102099119 | 102099119 | Human | 1 | name |
| 126911375 | CV1038116 | single nucleotide variant | NM_024057.4(NUP37):c.740G>T (p.Arg247Ile) | not provided [RCV001355278] | uncertain significance | 12 | 102076830 | 102076830 | Human | | name |
| 155987191 | CV2234073 | single nucleotide variant | NM_024057.4(NUP37):c.497C>G (p.Ser166Cys) | not specified [RCV004106179] | uncertain significance | 12 | 102085809 | 102085809 | Human | | name |
| 156276633 | CV2287757 | single nucleotide variant | NM_024057.4(NUP37):c.944G>A (p.Gly315Glu) | not specified [RCV004143212] | uncertain significance | 12 | 102074391 | 102074391 | Human | | name |
| 156192662 | CV2301908 | single nucleotide variant | NM_024057.4(NUP37):c.503G>T (p.Gly168Val) | not specified [RCV004156691] | uncertain significance | 12 | 102085803 | 102085803 | Human | | name |
| 155925593 | CV2365606 | single nucleotide variant | NM_024057.4(NUP37):c.948C>A (p.Asp316Glu) | not specified [RCV004212124] | uncertain significance | 12 | 102074387 | 102074387 | Human | | name |
| 329377876 | CV2460796 | single nucleotide variant | NM_024057.4(NUP37):c.920C>T (p.Thr307Ile) | not specified [RCV004271115] | uncertain significance | 12 | 102074415 | 102074415 | Human | | name |
| 401769245 | CV2693544 | single nucleotide variant | NM_024057.4(NUP37):c.601A>G (p.Ile201Val) | not specified [RCV004297524] | uncertain significance | 12 | 102077443 | 102077443 | Human | | name |
| 405280923 | CV3190698 | single nucleotide variant | NM_024057.4(NUP37):c.679G>A (p.Val227Ile) | Microcephaly 24, primary, autosomal recessive [RCV005392734]|NUP37-related disorder [RCV003907134] | benign|likely benign | 12 | 102077365 | 102077365 | Human | 1 | name , trait , alternate_id |
| 405680387 | CV3352430 | single nucleotide variant | NM_024057.4(NUP37):c.917G>A (p.Arg306Gln) | not specified [RCV004488563] | uncertain significance | 12 | 102074418 | 102074418 | Human | | name |
| 407522457 | CV3458971 | single nucleotide variant | NM_024057.4(NUP37):c.868C>A (p.Pro290Thr) | not specified [RCV004652742] | uncertain significance | 12 | 102074467 | 102074467 | Human | | name |
| 407522454 | CV3458972 | single nucleotide variant | NM_024057.4(NUP37):c.335A>G (p.Gln112Arg) | not specified [RCV004652743] | uncertain significance | 12 | 102101051 | 102101051 | Human | | name |
| 407477944 | CV3458973 | single nucleotide variant | NM_024057.4(NUP37):c.878T>C (p.Met293Thr) | not specified [RCV004638898] | likely benign | 12 | 102074457 | 102074457 | Human | | name |
| 407522447 | CV3458976 | single nucleotide variant | NM_024057.4(NUP37):c.938T>C (p.Ile313Thr) | not specified [RCV004652745] | uncertain significance | 12 | 102074397 | 102074397 | Human | | name |
| 597644005 | CV3570036 | single nucleotide variant | NM_024057.4(NUP37):c.715C>T (p.Arg239Trp) | not specified [RCV004832724] | uncertain significance | 12 | 102077329 | 102077329 | Human | | name |
| 597664449 | CV3570037 | single nucleotide variant | NM_024057.4(NUP37):c.764G>A (p.Cys255Tyr) | not specified [RCV004835450] | uncertain significance | 12 | 102076806 | 102076806 | Human | | name |
| 597645265 | CV3570042 | single nucleotide variant | NM_024057.4(NUP37):c.953A>G (p.Lys318Arg) | not specified [RCV004832725] | uncertain significance | 12 | 102074382 | 102074382 | Human | | name |
| 597664489 | CV3570043 | single nucleotide variant | NM_024057.4(NUP37):c.732A>C (p.Gln244His) | not specified [RCV004835455] | uncertain significance | 12 | 102076838 | 102076838 | Human | | name |
| 597644018 | CV3570044 | single nucleotide variant | NM_024057.4(NUP37):c.901G>C (p.Gly301Arg) | not specified [RCV004832726] | uncertain significance | 12 | 102074434 | 102074434 | Human | | name |
| 597664496 | CV3570045 | single nucleotide variant | NM_024057.4(NUP37):c.535T>G (p.Phe179Val) | not specified [RCV004835456] | uncertain significance | 12 | 102085771 | 102085771 | Human | | name |
| 598235251 | CV4004803 | single nucleotide variant | NM_024057.4(NUP37):c.976G>C (p.Val326Leu) | not specified [RCV005381982] | uncertain significance | 12 | 102074359 | 102074359 | Human | | name |
| 13827784 | CV581268 | single nucleotide variant | NM_024057.4(NUP37):c.916C>T (p.Arg306Ter) | Microcephaly 24, primary, autosomal recessive [RCV000721168] | pathogenic|likely pathogenic | 12 | 102074419 | 102074419 | Human | 1 | name |
| 8634458 | CV89678 | single nucleotide variant | NM_024057.2(NUP37):c.847C>T (p.His283Tyr) | Malignant melanoma [RCV000069775] | not provided | 12 | 102075021 | 102075021 | Human | | name |