| 405207187 | CV2874112 | duplication | NM_001099433.2(JAKMIP1):c.835-3dup | not provided [RCV003552092] | benign | 4 | 6084967 | 6084968 | Human | | name |
| 150479430 | CV1273466 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.625-15C>T | not provided [RCV001696670] | benign | 4 | 6085644 | 6085644 | Human | | name |
| 13210912 | CV424632 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1432-2A>G | Intellectual disability [RCV000496167] | uncertain significance | 4 | 6062442 | 6062442 | Human | 2 | name |
| 15163274 | CV743994 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1303-9G>A | not provided [RCV000903737] | likely benign | 4 | 6065017 | 6065017 | Human | | name |
| 405035730 | CV3016701 | duplication | NM_001099433.2(JAKMIP1):c.835-4_835-3dup | not provided [RCV003695927] | benign | 4 | 6084967 | 6084968 | Human | | name |
| 15202172 | CV777355 | duplication | NM_001099433.2(JAKMIP1):c.835-20_835-3dup | not provided [RCV000957838] | likely benign | 4 | 6084967 | 6084968 | Human | | name |
| 329373211 | CV2434145 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.5C>T (p.Ser2Leu) | not specified [RCV004250041] | uncertain significance | 4 | 6112846 | 6112846 | Human | | name |
| 155912858 | CV2341659 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.53C>T (p.Ala18Val) | not specified [RCV004182583] | uncertain significance | 4 | 6112798 | 6112798 | Human | | name |
| 401774316 | CV2691692 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.67A>C (p.Asn23His) | not specified [RCV004299154] | uncertain significance | 4 | 6112784 | 6112784 | Human | | name |
| 15153583 | CV709409 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.408G>A (p.Ala136=) | not provided [RCV000968573] | benign | 4 | 6105689 | 6105689 | Human | | name |
| 15100289 | CV764599 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.807G>A (p.Gly269=) | not provided [RCV000936612] | likely benign | 4 | 6085447 | 6085447 | Human | | name |
| 405795064 | CV3275314 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.161C>T (p.Ala54Val) | not specified [RCV004401088] | uncertain significance | 4 | 6105936 | 6105936 | Human | | name |
| 407511608 | CV3448069 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.287A>G (p.Glu96Gly) | not specified [RCV004626519] | uncertain significance | 4 | 6105810 | 6105810 | Human | | name |
| 407466742 | CV3448070 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.180G>T (p.Gln60His) | not specified [RCV004635716] | uncertain significance | 4 | 6105917 | 6105917 | Human | | name |
| 15174421 | CV709407 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1758C>T (p.Asp586=) | not provided [RCV000972713] | benign | 4 | 6054098 | 6054098 | Human | | name |
| 15133476 | CV709408 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1092C>T (p.Asn364=) | not provided [RCV000964957] | benign | 4 | 6081618 | 6081618 | Human | | name |
| 15184740 | CV721033 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.2226G>A (p.Pro742=) | not provided [RCV000886516] | benign | 4 | 6036057 | 6036057 | Human | | name |
| 15184949 | CV721034 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.2058C>T (p.Ala686=) | not provided [RCV000886565] | benign | 4 | 6042198 | 6042198 | Human | | name |
| 15166293 | CV721035 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1038G>C (p.Leu346=) | not provided [RCV000882601] | benign | 4 | 6081672 | 6081672 | Human | | name |
| 15203170 | CV749022 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.2436G>A (p.Leu812=) | not provided [RCV000913761] | likely benign | 4 | 6029725 | 6029725 | Human | | name |
| 15125136 | CV749023 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.2211G>A (p.Ala737=) | not provided [RCV000919101] | benign | 4 | 6036072 | 6036072 | Human | | name |
| 15163732 | CV749024 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1476C>G (p.Thr492=) | not provided [RCV000926202] | likely benign | 4 | 6062396 | 6062396 | Human | | name |
| 15101865 | CV749025 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1464C>T (p.Phe488=) | not provided [RCV000914865] | benign | 4 | 6062408 | 6062408 | Human | | name |
| 15188102 | CV764598 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1542C>T (p.Asp514=) | not provided [RCV000931852] | likely benign | 4 | 6062330 | 6062330 | Human | | name |
| 15099449 | CV782024 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1320A>G (p.Thr440=) | not provided [RCV000975259] | likely benign | 4 | 6064991 | 6064991 | Human | | name |
| 8631223 | CV86379 | single nucleotide variant | NM_001099433.1(JAKMIP1):c.1608C>T (p.Ile536=) | Malignant melanoma [RCV000066470] | not provided | 4 | 6060460 | 6060460 | Human | | name |
| 155918631 | CV2206005 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.553G>T (p.Ala185Ser) | not specified [RCV004078422] | uncertain significance | 4 | 6105544 | 6105544 | Human | | name |
| 155926545 | CV2345209 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.791T>A (p.Leu264His) | not specified [RCV004195948] | uncertain significance | 4 | 6085463 | 6085463 | Human | | name |
| 401750844 | CV2700089 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.478G>T (p.Ala160Ser) | not specified [RCV004310505] | uncertain significance | 4 | 6105619 | 6105619 | Human | | name |
| 401750847 | CV2700090 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.546C>G (p.Asp182Glu) | not specified [RCV004310506] | uncertain significance | 4 | 6105551 | 6105551 | Human | | name |
| 401721160 | CV2702290 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.391G>A (p.Ala131Thr) | not specified [RCV004314621] | uncertain significance | 4 | 6105706 | 6105706 | Human | | name |
| 401728998 | CV2729948 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.400A>G (p.Thr134Ala) | not specified [RCV004332946] | likely benign | 4 | 6105697 | 6105697 | Human | | name |
| 401729001 | CV2729949 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.414G>C (p.Glu138Asp) | not specified [RCV004332947] | uncertain significance | 4 | 6105683 | 6105683 | Human | | name |
| 401758103 | CV2731688 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.577G>C (p.Glu193Gln) | not specified [RCV004331791] | uncertain significance | 4 | 6105520 | 6105520 | Human | | name |
| 401872751 | CV2779990 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.842A>G (p.His281Arg) | not specified [RCV004353581] | uncertain significance | 4 | 6084958 | 6084958 | Human | | name |
| 405795067 | CV3275315 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.514T>A (p.Cys172Ser) | not specified [RCV004401089] | uncertain significance | 4 | 6105583 | 6105583 | Human | | name |
| 405795071 | CV3275317 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.799G>A (p.Gly267Arg) | not specified [RCV004401091] | uncertain significance | 4 | 6085455 | 6085455 | Human | | name |
| 405795074 | CV3275318 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.854G>A (p.Arg285Gln) | not specified [RCV004401092] | uncertain significance | 4 | 6084946 | 6084946 | Human | | name |
| 405795077 | CV3275319 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.985C>G (p.Leu329Val) | not specified [RCV004401093] | uncertain significance | 4 | 6081725 | 6081725 | Human | | name |
| 407466735 | CV3448067 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.892A>C (p.Asn298His) | not specified [RCV004635714] | uncertain significance | 4 | 6084908 | 6084908 | Human | | name |
| 407466745 | CV3448071 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.517A>C (p.Met173Leu) | not specified [RCV004635717] | uncertain significance | 4 | 6105580 | 6105580 | Human | | name |
| 597777198 | CV3684186 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.406G>A (p.Ala136Thr) | not specified [RCV004929810] | uncertain significance | 4 | 6105691 | 6105691 | Human | | name |
| 597777216 | CV3691190 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.857A>G (p.Asp286Gly) | not specified [RCV004929815] | uncertain significance | 4 | 6084943 | 6084943 | Human | | name |
| 598211952 | CV3969322 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.647A>G (p.Asp216Gly) | not specified [RCV005358760] | uncertain significance | 4 | 6085607 | 6085607 | Human | | name |
| 598258634 | CV3969323 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.965C>T (p.Ser322Leu) | not specified [RCV005347244] | uncertain significance | 4 | 6081745 | 6081745 | Human | | name |
| 126914496 | CV1037501 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1391C>T (p.Thr464Ile) | not provided [RCV001358305]|not specified [RCV004034498] | uncertain significance | 4 | 6064920 | 6064920 | Human | | name |
| 151352141 | CV1322294 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1471C>A (p.Leu491Met) | not provided [RCV001806917] | uncertain significance | 4 | 6062401 | 6062401 | Human | | name |
| 156278147 | CV2252059 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1117G>A (p.Ala373Thr) | not specified [RCV004122091] | uncertain significance | 4 | 6080297 | 6080297 | Human | | name |
| 156268395 | CV2275619 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1678A>G (p.Ile560Val) | not specified [RCV004137249] | uncertain significance | 4 | 6056726 | 6056726 | Human | | name |
| 155924780 | CV2277183 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1564C>T (p.Arg522Trp) | not specified [RCV004142823] | uncertain significance | 4 | 6060504 | 6060504 | Human | | name |
| 156205740 | CV2311450 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1295C>T (p.Pro432Leu) | not specified [RCV004168294] | uncertain significance | 4 | 6078946 | 6078946 | Human | | name |
| 329370509 | CV2461744 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1013G>A (p.Arg338Gln) | not specified [RCV004269892] | uncertain significance | 4 | 6081697 | 6081697 | Human | | name |
| 12912408 | CV248721 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1756G>C (p.Asp586His) | Smith-Magenis Syndrome-like [RCV000491606] | pathogenic | 4 | 6054100 | 6054100 | Human | 1 | name |
| 401870915 | CV2755892 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1231G>A (p.Asp411Asn) | not specified [RCV004335985] | uncertain significance | 4 | 6080183 | 6080183 | Human | | name |
| 405795059 | CV3275312 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1262G>A (p.Arg421His) | not specified [RCV004401086] | uncertain significance | 4 | 6078979 | 6078979 | Human | | name |
| 407466738 | CV3448068 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1253G>A (p.Arg418Gln) | not specified [RCV004635715] | uncertain significance | 4 | 6078988 | 6078988 | Human | | name |
| 597777182 | CV3684182 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1222G>A (p.Val408Ile) | not specified [RCV004929806] | uncertain significance | 4 | 6080192 | 6080192 | Human | | name |
| 597777186 | CV3684183 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1093G>A (p.Val365Met) | not specified [RCV004929807] | uncertain significance | 4 | 6081617 | 6081617 | Human | | name |
| 597777190 | CV3684184 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1559G>A (p.Arg520Gln) | not specified [RCV004929808] | uncertain significance | 4 | 6062313 | 6062313 | Human | | name |
| 597777201 | CV3691186 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1712A>G (p.Tyr571Cys) | not specified [RCV004929811] | uncertain significance | 4 | 6054144 | 6054144 | Human | | name |
| 597777205 | CV3691187 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1210G>C (p.Glu404Gln) | not specified [RCV004929812] | uncertain significance | 4 | 6080204 | 6080204 | Human | | name |
| 597777209 | CV3691188 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1432G>A (p.Ala478Thr) | not specified [RCV004929813] | likely benign | 4 | 6062440 | 6062440 | Human | | name |
| 597777213 | CV3691189 | single nucleotide variant | NM_001099433.2(JAKMIP1):c.1580C>T (p.Ala527Val) | not specified [RCV004929814] | uncertain significance | 4 | 6060488 | 6060488 | Human | | name |
| 8625819 | CV80943 | single nucleotide variant | NM_001099433.1(JAKMIP1):c.1478G>T (p.Arg493Leu) | Malignant melanoma [RCV000061020] | not provided | 4 | 6062394 | 6062394 | Human | | name |