| 405261546 | CV3204875 | single nucleotide variant | NM_018942.3(HMX1):c.*2C>T | HMX1-related disorder [RCV003944537] | likely benign | 4 | 8867691 | 8867691 | Human | | name , trait , alternate_id |
| 150411774 | CV1197257 | single nucleotide variant | NM_018942.3(HMX1):c.*72G>C | not provided [RCV001574132] | likely benign | 4 | 8867621 | 8867621 | Human | | name |
| 150442140 | CV1204658 | single nucleotide variant | NM_018942.3(HMX1):c.-22G>A | not provided [RCV001583765] | likely benign | 4 | 8871636 | 8871636 | Human | | name |
| 150471420 | CV1259111 | single nucleotide variant | NM_018942.3(HMX1):c.*54G>A | not provided [RCV001684356] | benign | 4 | 8867639 | 8867639 | Human | | name |
| 150501420 | CV1213353 | single nucleotide variant | NM_018942.3(HMX1):c.-130T>G | not provided [RCV001594765] | benign | 4 | 8871744 | 8871744 | Human | | name |
| 150455229 | CV1220430 | single nucleotide variant | NM_018942.3(HMX1):c.-110G>C | not provided [RCV001612523] | benign | 4 | 8871724 | 8871724 | Human | | name |
| 150439175 | CV1266737 | single nucleotide variant | NM_018942.3(HMX1):c.*146C>T | not provided [RCV001690172] | benign | 4 | 8867547 | 8867547 | Human | | name |
| 150451507 | CV1276605 | single nucleotide variant | NM_018942.3(HMX1):c.*162T>C | not provided [RCV001708394] | benign | 4 | 8867531 | 8867531 | Human | | name |
| 127250402 | CV1093563 | single nucleotide variant | NM_018942.3(HMX1):c.395-8C>G | not provided [RCV001436329] | likely benign | 4 | 8868353 | 8868353 | Human | | name |
| 151773094 | CV1401290 | single nucleotide variant | NM_018942.3(HMX1):c.395-3C>T | not provided [RCV002025551] | uncertain significance | 4 | 8868348 | 8868348 | Human | | name |
| 152150451 | CV1531394 | single nucleotide variant | NM_018942.3(HMX1):c.395-17C>A | not provided [RCV002201881] | likely benign | 4 | 8868362 | 8868362 | Human | | name |
| 152174917 | CV1536187 | single nucleotide variant | NM_018942.3(HMX1):c.394+13G>C | not provided [RCV002163313] | likely benign | 4 | 8871208 | 8871208 | Human | | name |
| 152149854 | CV1603926 | single nucleotide variant | NM_018942.3(HMX1):c.395-16C>T | not provided [RCV002220634] | likely benign | 4 | 8868361 | 8868361 | Human | | name |
| 156109504 | CV1961343 | single nucleotide variant | NM_018942.3(HMX1):c.395-12T>G | not provided [RCV002592719] | likely benign | 4 | 8868357 | 8868357 | Human | | name |
| 156221422 | CV2080884 | single nucleotide variant | NM_018942.3(HMX1):c.395-13C>T | not provided [RCV002853226] | likely benign | 4 | 8868358 | 8868358 | Human | | name |
| 597895282 | CV3781868 | single nucleotide variant | NM_018942.3(HMX1):c.395-15C>G | not provided [RCV005126296] | likely benign | 4 | 8868360 | 8868360 | Human | | name |
| 150494420 | CV1224896 | single nucleotide variant | NM_018942.3(HMX1):c.394+135T>G | not provided [RCV001619374] | benign | 4 | 8871086 | 8871086 | Human | | name |
| 156334204 | CV1966734 | microsatellite | NM_018942.3(HMX1):c.395-14TC[2] | not provided [RCV002600949] | likely benign | 4 | 8868354 | 8868355 | Human | | name |
| 152057226 | CV1647396 | single nucleotide variant | NM_018942.3(HMX1):c.13C>T (p.Leu5=) | not provided [RCV002208240] | likely benign | 4 | 8871602 | 8871602 | Human | | name |
| 156447514 | CV1945474 | single nucleotide variant | NM_018942.3(HMX1):c.18G>A (p.Thr6=) | not provided [RCV003119043] | likely benign | 4 | 8871597 | 8871597 | Human | | name |
| 156233720 | CV2076001 | single nucleotide variant | NM_018942.3(HMX1):c.12G>A (p.Glu4=) | not provided [RCV002830148] | likely benign | 4 | 8871603 | 8871603 | Human | | name |
| 405192819 | CV2872196 | single nucleotide variant | NM_018942.3(HMX1):c.24C>T (p.Pro8=) | not provided [RCV003550564] | likely benign | 4 | 8871591 | 8871591 | Human | | name |
| 597915926 | CV3737324 | single nucleotide variant | NM_018942.3(HMX1):c.18G>C (p.Thr6=) | not provided [RCV005074113] | likely benign | 4 | 8871597 | 8871597 | Human | | name |
| 127233111 | CV1071964 | single nucleotide variant | NM_018942.3(HMX1):c.57C>T (p.Phe19=) | not provided [RCV001413751] | likely benign | 4 | 8871558 | 8871558 | Human | | name |
| 152159028 | CV1522543 | microsatellite | NM_018942.3(HMX1):c.394+14_394+15del | not provided [RCV002140597] | likely benign | 4 | 8871206 | 8871207 | Human | | name |
| 243052988 | CV2407744 | single nucleotide variant | NM_018942.3(HMX1):c.3G>T (p.Met1Ile) | Oculoauricular syndrome [RCV003131142] | uncertain significance | 4 | 8871612 | 8871612 | Human | 1 | name |
| 597880717 | CV3810309 | single nucleotide variant | NM_018942.3(HMX1):c.84G>A (p.Glu28=) | not provided [RCV005149770] | likely benign | 4 | 8871531 | 8871531 | Human | | name |
| 597918820 | CV3842516 | single nucleotide variant | NM_018942.3(HMX1):c.36G>T (p.Thr12=) | not provided [RCV005184001] | likely benign | 4 | 8871579 | 8871579 | Human | | name |
| 126770087 | CV1005499 | single nucleotide variant | NM_018942.3(HMX1):c.276G>A (p.Leu92=) | not provided [RCV001322359] | likely benign|uncertain significance | 4 | 8871339 | 8871339 | Human | | name |
| 127259364 | CV1093564 | single nucleotide variant | NM_018942.3(HMX1):c.282C>T (p.Leu94=) | not provided [RCV001438342] | likely benign | 4 | 8871333 | 8871333 | Human | | name |
| 127245691 | CV1093565 | single nucleotide variant | NM_018942.3(HMX1):c.156C>T (p.Pro52=) | not provided [RCV001435257] | likely benign | 4 | 8871459 | 8871459 | Human | | name |
| 127249668 | CV1093566 | single nucleotide variant | NM_018942.3(HMX1):c.105G>A (p.Ala35=) | not provided [RCV001436139] | likely benign | 4 | 8871510 | 8871510 | Human | | name |
| 150517433 | CV1226883 | insertion | NM_018942.3(HMX1):c.*290_*291insTGGGC | not provided [RCV001639978] | benign | 4 | 8867402 | 8867403 | Human | | name |
| 151826062 | CV1507242 | single nucleotide variant | NM_018942.3(HMX1):c.22C>T (p.Pro8Ser) | not provided [RCV001955224] | uncertain significance | 4 | 8871593 | 8871593 | Human | | name |
| 152111952 | CV1539155 | single nucleotide variant | NM_018942.3(HMX1):c.261C>T (p.Leu87=) | not provided [RCV002080373] | likely benign | 4 | 8871354 | 8871354 | Human | | name |
| 152071280 | CV1577971 | single nucleotide variant | NM_018942.3(HMX1):c.153C>T (p.Asp51=) | not provided [RCV002111480] | likely benign | 4 | 8871462 | 8871462 | Human | | name |
| 152033879 | CV1634624 | single nucleotide variant | NM_018942.3(HMX1):c.129G>A (p.Glu43=) | not provided [RCV002086877] | likely benign | 4 | 8871486 | 8871486 | Human | | name |
| 152066330 | CV1662341 | single nucleotide variant | NM_018942.3(HMX1):c.195A>G (p.Leu65=) | not provided [RCV002090970] | likely benign | 4 | 8871420 | 8871420 | Human | | name |
| 156335462 | CV1966833 | single nucleotide variant | NM_018942.3(HMX1):c.10G>A (p.Glu4Lys) | not provided [RCV002601006] | uncertain significance | 4 | 8871605 | 8871605 | Human | | name |
| 156140224 | CV1973568 | single nucleotide variant | NM_018942.3(HMX1):c.216C>T (p.Leu72=) | not provided [RCV002593806] | likely benign | 4 | 8871399 | 8871399 | Human | | name |
| 156044397 | CV1977972 | single nucleotide variant | NM_018942.3(HMX1):c.25G>A (p.Gly9Arg) | not provided [RCV002590446] | uncertain significance | 4 | 8871590 | 8871590 | Human | | name |
| 156342614 | CV1985030 | single nucleotide variant | NM_018942.3(HMX1):c.216C>G (p.Leu72=) | not provided [RCV002631504] | likely benign | 4 | 8871399 | 8871399 | Human | | name |
| 156376749 | CV2000367 | single nucleotide variant | NM_018942.3(HMX1):c.267G>C (p.Pro89=) | not provided [RCV002653354] | likely benign | 4 | 8871348 | 8871348 | Human | | name |
| 156037497 | CV2150302 | single nucleotide variant | NM_018942.3(HMX1):c.285T>C (p.Gly95=) | not provided [RCV003018928] | likely benign | 4 | 8871330 | 8871330 | Human | | name |
| 402482063 | CV2940706 | single nucleotide variant | NM_018942.3(HMX1):c.255G>T (p.Ala85=) | not provided [RCV003659656] | likely benign | 4 | 8871360 | 8871360 | Human | | name |
| 405200393 | CV3128913 | single nucleotide variant | NM_018942.3(HMX1):c.246G>C (p.Arg82=) | not provided [RCV003821956] | likely benign | 4 | 8871369 | 8871369 | Human | | name |
| 405175592 | CV3150520 | single nucleotide variant | NM_018942.3(HMX1):c.108C>G (p.Thr36=) | not provided [RCV003841794] | likely benign | 4 | 8871507 | 8871507 | Human | | name |
| 597857951 | CV3748215 | single nucleotide variant | NM_018942.3(HMX1):c.282C>A (p.Leu94=) | not provided [RCV005067037] | likely benign | 4 | 8871333 | 8871333 | Human | | name |
| 597875444 | CV3766287 | single nucleotide variant | NM_018942.3(HMX1):c.114C>A (p.Gly38=) | not provided [RCV005108419] | likely benign | 4 | 8871501 | 8871501 | Human | | name |
| 597962082 | CV3795360 | single nucleotide variant | NM_018942.3(HMX1):c.252T>A (p.Arg84=) | not provided [RCV005139052] | likely benign | 4 | 8871363 | 8871363 | Human | | name |
| 597960720 | CV3815530 | single nucleotide variant | NM_018942.3(HMX1):c.255G>A (p.Ala85=) | not provided [RCV005163463] | likely benign | 4 | 8871360 | 8871360 | Human | | name |
| 597861984 | CV3822588 | single nucleotide variant | NM_018942.3(HMX1):c.132C>T (p.Asp44=) | not provided [RCV005175118] | likely benign | 4 | 8871483 | 8871483 | Human | | name |
| 38495981 | CV944144 | single nucleotide variant | NM_018942.3(HMX1):c.267G>A (p.Pro89=) | not provided [RCV001226059] | likely benign|uncertain significance | 4 | 8871348 | 8871348 | Human | | name |
| 126918087 | CV1042973 | single nucleotide variant | NM_018942.3(HMX1):c.933C>A (p.Pro311=) | not provided [RCV001361529] | likely benign|uncertain significance | 4 | 8867807 | 8867807 | Human | | name |
| 127278500 | CV1071956 | single nucleotide variant | NM_018942.3(HMX1):c.999C>T (p.Ala333=) | not provided [RCV001408501] | likely benign | 4 | 8867741 | 8867741 | Human | | name |
| 127245018 | CV1071957 | single nucleotide variant | NM_018942.3(HMX1):c.981G>T (p.Pro327=) | HMX1-related disorder [RCV003973226]|not provided [RCV001393806] | likely benign | 4 | 8867759 | 8867759 | Human | 1 | name , trait , alternate_id |
| 127230238 | CV1071959 | single nucleotide variant | NM_018942.3(HMX1):c.819G>T (p.Pro273=) | not provided [RCV001412417] | likely benign | 4 | 8867921 | 8867921 | Human | | name |
| 127276394 | CV1071960 | single nucleotide variant | NM_018942.3(HMX1):c.618G>T (p.Thr206=) | not provided [RCV001407148] | likely benign | 4 | 8868122 | 8868122 | Human | | name |
| 127258999 | CV1071961 | single nucleotide variant | NM_018942.3(HMX1):c.483G>A (p.Gln161=) | not provided [RCV001419663] | likely benign | 4 | 8868257 | 8868257 | Human | | name |
| 127257894 | CV1071962 | single nucleotide variant | NM_018942.3(HMX1):c.456G>A (p.Pro152=) | not provided [RCV001419437] | likely benign | 4 | 8868284 | 8868284 | Human | | name |
| 127269953 | CV1071963 | single nucleotide variant | NM_018942.3(HMX1):c.403C>A (p.Arg135=) | not provided [RCV001404849] | likely benign | 4 | 8868337 | 8868337 | Human | | name |
| 127254356 | CV1093561 | single nucleotide variant | NM_018942.3(HMX1):c.915G>T (p.Pro305=) | not provided [RCV001426287] | likely benign | 4 | 8867825 | 8867825 | Human | | name |
| 127268650 | CV1093567 | single nucleotide variant | NM_018942.3(HMX1):c.94G>T (p.Ala32Ser) | HMX1-related disorder [RCV003908649]|not provided [RCV001440851] | likely benign | 4 | 8871521 | 8871521 | Human | 1 | name , trait , alternate_id |
| 127304973 | CV1115105 | single nucleotide variant | NM_018942.3(HMX1):c.636C>A (p.Arg212=) | not provided [RCV001455122] | likely benign | 4 | 8868104 | 8868104 | Human | | name |
| 127303881 | CV1115106 | single nucleotide variant | NM_018942.3(HMX1):c.465C>T (p.Pro155=) | not provided [RCV001462035] | likely benign | 4 | 8868275 | 8868275 | Human | | name |
| 127299202 | CV1115107 | single nucleotide variant | NM_018942.3(HMX1):c.375A>C (p.Gly125=) | not provided [RCV001460732] | likely benign | 4 | 8871240 | 8871240 | Human | | name |
| 127311160 | CV1136031 | single nucleotide variant | NM_018942.3(HMX1):c.960C>T (p.Phe320=) | not provided [RCV001501548] | likely benign | 4 | 8867780 | 8867780 | Human | | name |
| 127318502 | CV1136032 | single nucleotide variant | NM_018942.3(HMX1):c.765C>T (p.Arg255=) | HMX1-related disorder [RCV003948474]|not provided [RCV001503718] | likely benign | 4 | 8867975 | 8867975 | Human | 1 | name , trait , alternate_id |
| 127295794 | CV1136033 | single nucleotide variant | NM_018942.3(HMX1):c.738G>A (p.Gln246=) | not provided [RCV001497340] | likely benign | 4 | 8868002 | 8868002 | Human | | name |
| 127319210 | CV1136034 | single nucleotide variant | NM_018942.3(HMX1):c.693C>G (p.Ala231=) | not provided [RCV001483773] | likely benign | 4 | 8868047 | 8868047 | Human | | name |
| 127325084 | CV1136035 | single nucleotide variant | NM_018942.3(HMX1):c.606A>G (p.Arg202=) | not provided [RCV001505886] | likely benign | 4 | 8868134 | 8868134 | Human | | name |
| 127317991 | CV1136036 | single nucleotide variant | NM_018942.3(HMX1):c.561G>C (p.Ala187=) | HMX1-related disorder [RCV003908738]|not provided [RCV001483354] | likely benign | 4 | 8868179 | 8868179 | Human | 1 | name , trait , alternate_id |
| 127325774 | CV1136037 | single nucleotide variant | NM_018942.3(HMX1):c.441G>A (p.Ala147=) | not provided [RCV001485882] | likely benign | 4 | 8868299 | 8868299 | Human | | name |
| 127291140 | CV1154850 | single nucleotide variant | NM_018942.3(HMX1):c.784C>T (p.Leu262=) | not provided [RCV001510224] | benign | 4 | 8867956 | 8867956 | Human | | name |
| 127311603 | CV1154851 | single nucleotide variant | NM_018942.3(HMX1):c.714C>T (p.Ala238=) | not provided [RCV001518671] | benign|likely benign | 4 | 8868026 | 8868026 | Human | | name |
| 151730479 | CV1385141 | single nucleotide variant | NM_018942.3(HMX1):c.44G>A (p.Arg15His) | not provided [RCV001967057] | uncertain significance | 4 | 8871571 | 8871571 | Human | | name |
| 151837813 | CV1468155 | single nucleotide variant | NM_018942.3(HMX1):c.28C>T (p.Arg10Cys) | Inborn genetic diseases [RCV005343200]|not provided [RCV001956375] | likely benign|uncertain significance | 4 | 8871587 | 8871587 | Human | 1 | name |
| 151752576 | CV1479919 | single nucleotide variant | NM_018942.3(HMX1):c.519G>A (p.Ala173=) | not provided [RCV001927671] | likely benign|uncertain significance | 4 | 8868221 | 8868221 | Human | | name |
| 152042220 | CV1522106 | single nucleotide variant | NM_018942.3(HMX1):c.861C>T (p.His287=) | not provided [RCV002088110] | likely benign | 4 | 8867879 | 8867879 | Human | | name |
| 152076948 | CV1536290 | single nucleotide variant | NM_018942.3(HMX1):c.669C>T (p.Asp223=) | not provided [RCV002148811] | likely benign | 4 | 8868071 | 8868071 | Human | | name |
| 152050011 | CV1542901 | single nucleotide variant | NM_018942.3(HMX1):c.537G>A (p.Ala179=) | not provided [RCV002108838] | likely benign | 4 | 8868203 | 8868203 | Human | | name |
| 152120167 | CV1547342 | single nucleotide variant | NM_018942.3(HMX1):c.963C>G (p.Ser321=) | not provided [RCV002081443] | likely benign | 4 | 8867777 | 8867777 | Human | | name |
| 152120275 | CV1547360 | single nucleotide variant | NM_018942.3(HMX1):c.831G>A (p.Gln277=) | not provided [RCV002081457] | likely benign | 4 | 8867909 | 8867909 | Human | | name |
| 152084498 | CV1577060 | single nucleotide variant | NM_018942.3(HMX1):c.429G>A (p.Glu143=) | not provided [RCV002193452] | likely benign | 4 | 8868311 | 8868311 | Human | | name |
| 152110644 | CV1581638 | single nucleotide variant | NM_018942.3(HMX1):c.355C>A (p.Arg119=) | not provided [RCV002096801] | likely benign | 4 | 8871260 | 8871260 | Human | | name |
| 152161881 | CV1584619 | single nucleotide variant | NM_018942.3(HMX1):c.384C>T (p.Leu128=) | not provided [RCV002123350] | likely benign | 4 | 8871231 | 8871231 | Human | | name |
| 152068111 | CV1588974 | single nucleotide variant | NM_018942.3(HMX1):c.993C>T (p.Phe331=) | not provided [RCV002209620] | likely benign | 4 | 8867747 | 8867747 | Human | | name |
| 152086292 | CV1589746 | single nucleotide variant | NM_018942.3(HMX1):c.835C>T (p.Leu279=) | not provided [RCV002193680] | likely benign | 4 | 8867905 | 8867905 | Human | | name |
| 152087878 | CV1590145 | single nucleotide variant | NM_018942.3(HMX1):c.972C>T (p.Leu324=) | not provided [RCV002193884] | likely benign | 4 | 8867768 | 8867768 | Human | | name |
| 152123374 | CV1594291 | single nucleotide variant | NM_018942.3(HMX1):c.672G>A (p.Leu224=) | not provided [RCV002175876] | likely benign | 4 | 8868068 | 8868068 | Human | | name |
| 152036634 | CV1609873 | single nucleotide variant | NM_018942.3(HMX1):c.693C>T (p.Ala231=) | not provided [RCV002165053] | likely benign | 4 | 8868047 | 8868047 | Human | | name |
| 152169296 | CV1614175 | single nucleotide variant | NM_018942.3(HMX1):c.933C>T (p.Pro311=) | not provided [RCV002161394] | likely benign | 4 | 8867807 | 8867807 | Human | | name |
| 152149914 | CV1616946 | single nucleotide variant | NM_018942.3(HMX1):c.804G>A (p.Ala268=) | not provided [RCV002201806] | likely benign | 4 | 8867936 | 8867936 | Human | | name |
| 152114626 | CV1628089 | single nucleotide variant | NM_018942.3(HMX1):c.315C>T (p.Pro105=) | not provided [RCV002197235] | likely benign | 4 | 8871300 | 8871300 | Human | | name |
| 152140528 | CV1628787 | single nucleotide variant | NM_018942.3(HMX1):c.576A>C (p.Thr192=) | not provided [RCV002100712] | likely benign | 4 | 8868164 | 8868164 | Human | | name |
| 152091135 | CV1654974 | single nucleotide variant | NM_018942.3(HMX1):c.339A>T (p.Ala113=) | not provided [RCV002212741] | likely benign | 4 | 8871276 | 8871276 | Human | | name |
| 152066256 | CV1662319 | single nucleotide variant | NM_018942.3(HMX1):c.495G>A (p.Ala165=) | not provided [RCV002090962] | likely benign | 4 | 8868245 | 8868245 | Human | | name |
| 152030080 | CV1665021 | single nucleotide variant | NM_018942.3(HMX1):c.480G>A (p.Val160=) | not provided [RCV002105809] | likely benign | 4 | 8868260 | 8868260 | Human | | name |
| 156406628 | CV1891228 | single nucleotide variant | NM_018942.3(HMX1):c.59T>A (p.Leu20His) | not provided [RCV003070435] | uncertain significance | 4 | 8871556 | 8871556 | Human | | name |
| 156330523 | CV1954058 | single nucleotide variant | NM_018942.3(HMX1):c.41C>G (p.Ala14Gly) | not provided [RCV002579970] | uncertain significance | 4 | 8871574 | 8871574 | Human | | name |
| 156417301 | CV1970314 | single nucleotide variant | NM_018942.3(HMX1):c.849G>A (p.Pro283=) | not provided [RCV002590118] | likely benign | 4 | 8867891 | 8867891 | Human | | name |
| 156062620 | CV1975220 | single nucleotide variant | NM_018942.3(HMX1):c.987C>T (p.Ala329=) | not provided [RCV002591028] | likely benign | 4 | 8867753 | 8867753 | Human | | name |
| 156328741 | CV1990780 | single nucleotide variant | NM_018942.3(HMX1):c.549C>T (p.Ala183=) | not provided [RCV002630806] | likely benign | 4 | 8868191 | 8868191 | Human | | name |
| 156376393 | CV2000313 | single nucleotide variant | NM_018942.3(HMX1):c.705C>A (p.Gly235=) | not provided [RCV002653329] | likely benign | 4 | 8868035 | 8868035 | Human | | name |
| 156229107 | CV2002306 | single nucleotide variant | NM_018942.3(HMX1):c.80C>A (p.Ala27Asp) | not provided [RCV002667510] | uncertain significance | 4 | 8871535 | 8871535 | Human | | name |
| 156226018 | CV2009471 | single nucleotide variant | NM_018942.3(HMX1):c.540G>A (p.Ser180=) | not provided [RCV002701185] | likely benign | 4 | 8868200 | 8868200 | Human | | name |
| 156101589 | CV2011616 | single nucleotide variant | NM_018942.3(HMX1):c.471G>A (p.Pro157=) | not provided [RCV002695327] | likely benign | 4 | 8868269 | 8868269 | Human | | name |
| 156396192 | CV2012322 | single nucleotide variant | NM_018942.3(HMX1):c.92G>A (p.Gly31Asp) | not provided [RCV002725569] | uncertain significance | 4 | 8871523 | 8871523 | Human | | name |
| 156116226 | CV2015704 | single nucleotide variant | NM_018942.3(HMX1):c.414G>T (p.Pro138=) | not provided [RCV002695861] | likely benign | 4 | 8868326 | 8868326 | Human | | name |
| 155986251 | CV2030457 | single nucleotide variant | NM_018942.3(HMX1):c.699C>T (p.Arg233=) | not provided [RCV002755550] | likely benign | 4 | 8868041 | 8868041 | Human | | name |
| 156237624 | CV2031719 | single nucleotide variant | NM_018942.3(HMX1):c.513C>T (p.Gly171=) | not provided [RCV002745550] | likely benign | 4 | 8868227 | 8868227 | Human | | name |
| 156375668 | CV2049497 | single nucleotide variant | NM_018942.3(HMX1):c.516G>A (p.Pro172=) | not provided [RCV002814668] | likely benign | 4 | 8868224 | 8868224 | Human | | name |
| 156160095 | CV2074102 | single nucleotide variant | NM_018942.3(HMX1):c.507G>C (p.Ala169=) | not provided [RCV002851178] | likely benign | 4 | 8868233 | 8868233 | Human | | name |
| 156223100 | CV2080445 | single nucleotide variant | NM_018942.3(HMX1):c.735G>T (p.Thr245=) | not provided [RCV002875946] | likely benign | 4 | 8868005 | 8868005 | Human | | name |
| 156194861 | CV2083064 | single nucleotide variant | NM_018942.3(HMX1):c.477G>A (p.Ala159=) | not provided [RCV002852258] | likely benign | 4 | 8868263 | 8868263 | Human | | name |
| 156246381 | CV2086229 | single nucleotide variant | NM_018942.3(HMX1):c.564G>A (p.Ala188=) | not provided [RCV002876786] | likely benign | 4 | 8868176 | 8868176 | Human | | name |
| 155948834 | CV2087886 | single nucleotide variant | NM_018942.3(HMX1):c.525C>T (p.Gly175=) | not provided [RCV002880383] | likely benign | 4 | 8868215 | 8868215 | Human | | name |
| 156289280 | CV2115133 | single nucleotide variant | NM_018942.3(HMX1):c.64G>A (p.Glu22Lys) | not provided [RCV002922082] | uncertain significance | 4 | 8871551 | 8871551 | Human | | name |
| 155954734 | CV2123756 | single nucleotide variant | NM_018942.3(HMX1):c.981G>A (p.Pro327=) | not provided [RCV002972060] | likely benign | 4 | 8867759 | 8867759 | Human | | name |
| 156245192 | CV2126365 | single nucleotide variant | NM_018942.3(HMX1):c.609G>A (p.Lys203=) | not provided [RCV002959012] | likely benign | 4 | 8868131 | 8868131 | Human | | name |
| 156139568 | CV2137694 | single nucleotide variant | NM_018942.3(HMX1):c.528G>C (p.Thr176=) | not provided [RCV002982264] | likely benign | 4 | 8868212 | 8868212 | Human | | name |
| 156312558 | CV2151349 | single nucleotide variant | NM_018942.3(HMX1):c.420G>C (p.Thr140=) | not provided [RCV003028667] | likely benign | 4 | 8868320 | 8868320 | Human | | name |
| 156362034 | CV2158933 | single nucleotide variant | NM_018942.3(HMX1):c.73C>A (p.Leu25Met) | not provided [RCV003031634] | uncertain significance | 4 | 8871542 | 8871542 | Human | | name |
| 156294483 | CV2162524 | single nucleotide variant | NM_018942.3(HMX1):c.706C>T (p.Leu236=) | not provided [RCV003045276] | likely benign | 4 | 8868034 | 8868034 | Human | | name |
| 155979170 | CV2166917 | single nucleotide variant | NM_018942.3(HMX1):c.867C>T (p.Ser289=) | not provided [RCV003033798] | likely benign | 4 | 8867873 | 8867873 | Human | | name |
| 156116319 | CV2173990 | single nucleotide variant | NM_018942.3(HMX1):c.28C>G (p.Arg10Gly) | Inborn genetic diseases [RCV003055289]|not provided [RCV003055288] | uncertain significance | 4 | 8871587 | 8871587 | Human | 1 | name |
| 156254838 | CV2185203 | single nucleotide variant | NM_018942.3(HMX1):c.405G>T (p.Arg135=) | not provided [RCV003043919] | likely benign | 4 | 8868335 | 8868335 | Human | | name |
| 405082567 | CV2864752 | single nucleotide variant | NM_018942.3(HMX1):c.954C>G (p.Leu318=) | not provided [RCV003549231] | likely benign | 4 | 8867786 | 8867786 | Human | | name |
| 405205358 | CV2916216 | single nucleotide variant | NM_018942.3(HMX1):c.591C>A (p.Gly197=) | not provided [RCV003566430] | likely benign | 4 | 8868149 | 8868149 | Human | | name |
| 405092057 | CV2947007 | single nucleotide variant | NM_018942.3(HMX1):c.459A>G (p.Arg153=) | not provided [RCV003665352] | likely benign | 4 | 8868281 | 8868281 | Human | | name |
| 405160105 | CV2955090 | single nucleotide variant | NM_018942.3(HMX1):c.981G>C (p.Pro327=) | not provided [RCV003670666] | likely benign | 4 | 8867759 | 8867759 | Human | | name |
| 405214787 | CV2967710 | single nucleotide variant | NM_018942.3(HMX1):c.678C>G (p.Arg226=) | not provided [RCV003679876] | likely benign | 4 | 8868062 | 8868062 | Human | | name |
| 405244023 | CV2971842 | single nucleotide variant | NM_018942.3(HMX1):c.597C>T (p.Gly199=) | not provided [RCV003684737] | likely benign | 4 | 8868143 | 8868143 | Human | | name |
| 405196809 | CV2976139 | single nucleotide variant | NM_018942.3(HMX1):c.822G>C (p.Pro274=) | not provided [RCV003677749] | likely benign | 4 | 8867918 | 8867918 | Human | | name |
| 405233817 | CV2981902 | single nucleotide variant | NM_018942.3(HMX1):c.690C>T (p.Ser230=) | not provided [RCV003711958] | likely benign | 4 | 8868050 | 8868050 | Human | | name |
| 405181044 | CV3147436 | single nucleotide variant | NM_018942.3(HMX1):c.807C>G (p.Ala269=) | not provided [RCV003842338] | likely benign | 4 | 8867933 | 8867933 | Human | | name |
| 597691625 | CV3679380 | single nucleotide variant | NM_018942.3(HMX1):c.38C>T (p.Pro13Leu) | Inborn genetic diseases [RCV004985864] | uncertain significance | 4 | 8871577 | 8871577 | Human | 1 | name |
| 597955207 | CV3796152 | single nucleotide variant | NM_018942.3(HMX1):c.870C>G (p.Pro290=) | not provided [RCV005136969] | likely benign | 4 | 8867870 | 8867870 | Human | | name |
| 597937848 | CV3807936 | single nucleotide variant | NM_018942.3(HMX1):c.687C>T (p.Ser229=) | not provided [RCV005158315] | likely benign | 4 | 8868053 | 8868053 | Human | | name |
| 597939189 | CV3808403 | single nucleotide variant | NM_018942.3(HMX1):c.855C>G (p.Leu285=) | not provided [RCV005158591] | likely benign | 4 | 8867885 | 8867885 | Human | | name |
| 597864046 | CV3814123 | single nucleotide variant | NM_018942.3(HMX1):c.771G>A (p.Lys257=) | not provided [RCV005147192] | likely benign | 4 | 8867969 | 8867969 | Human | | name |
| 597947869 | CV3818182 | single nucleotide variant | NM_018942.3(HMX1):c.684G>C (p.Leu228=) | not provided [RCV005160443] | likely benign | 4 | 8868056 | 8868056 | Human | | name |
| 597879359 | CV3856951 | single nucleotide variant | NM_018942.3(HMX1):c.729C>A (p.Thr243=) | not provided [RCV005198751] | likely benign | 4 | 8868011 | 8868011 | Human | | name |
| 14712986 | CV655616 | single nucleotide variant | NM_018942.3(HMX1):c.879A>G (p.Ala293=) | Oculoauricular syndrome [RCV001702839]|not provided [RCV000828589] | benign | 4 | 8867861 | 8867861 | Human | 1 | name |
| 38479137 | CV944147 | single nucleotide variant | NM_018942.3(HMX1):c.58C>T (p.Leu20Phe) | Inborn genetic diseases [RCV003263867]|not provided [RCV001234211] | uncertain significance | 4 | 8871557 | 8871557 | Human | 1 | name |
| 126746765 | CV1005500 | single nucleotide variant | NM_018942.3(HMX1):c.259C>A (p.Leu87Ile) | not provided [RCV001315244] | uncertain significance | 4 | 8871356 | 8871356 | Human | | name |
| 126766954 | CV1005501 | single nucleotide variant | NM_018942.3(HMX1):c.254C>T (p.Ala85Val) | not provided [RCV001320655] | uncertain significance | 4 | 8871361 | 8871361 | Human | | name |
| 126741979 | CV1005502 | single nucleotide variant | NM_018942.3(HMX1):c.127G>A (p.Glu43Lys) | not provided [RCV001314598] | uncertain significance | 4 | 8871488 | 8871488 | Human | | name |
| 126753386 | CV1005503 | single nucleotide variant | NM_018942.3(HMX1):c.117C>A (p.Asp39Glu) | not provided [RCV001327273] | uncertain significance | 4 | 8871498 | 8871498 | Human | | name |
| 126763503 | CV1026039 | single nucleotide variant | NM_018942.3(HMX1):c.266C>T (p.Pro89Leu) | not provided [RCV001341297] | uncertain significance | 4 | 8871349 | 8871349 | Human | | name |
| 126915963 | CV1042977 | single nucleotide variant | NM_018942.3(HMX1):c.296C>T (p.Pro99Leu) | not provided [RCV001360292] | uncertain significance | 4 | 8871319 | 8871319 | Human | | name |
| 126914393 | CV1042978 | single nucleotide variant | NM_018942.3(HMX1):c.284G>A (p.Gly95Asp) | not provided [RCV001359524] | uncertain significance | 4 | 8871331 | 8871331 | Human | | name |
| 126923963 | CV1042979 | single nucleotide variant | NM_018942.3(HMX1):c.283G>C (p.Gly95Arg) | not provided [RCV001366463] | uncertain significance | 4 | 8871332 | 8871332 | Human | | name |
| 126924653 | CV1042980 | single nucleotide variant | NM_018942.3(HMX1):c.182G>A (p.Arg61Gln) | not provided [RCV001367275] | uncertain significance | 4 | 8871433 | 8871433 | Human | | name |
| 126912690 | CV1042981 | single nucleotide variant | NM_018942.3(HMX1):c.136G>A (p.Glu46Lys) | not provided [RCV001358908] | uncertain significance | 4 | 8871479 | 8871479 | Human | | name |
| 126917133 | CV1042982 | single nucleotide variant | NM_018942.3(HMX1):c.130G>A (p.Asp44Asn) | Inborn genetic diseases [RCV005340857]|not provided [RCV001371903] | uncertain significance | 4 | 8871485 | 8871485 | Human | 1 | name |
| 127329369 | CV1136030 | single nucleotide variant | NM_018942.3(HMX1):c.1014C>T (p.Pro338=) | not provided [RCV001487374] | likely benign | 4 | 8867726 | 8867726 | Human | | name |
| 150490603 | CV1279844 | insertion | NM_018942.3(HMX1):c.394+148_394+149insC | not provided [RCV001716502] | benign | 4 | 8871072 | 8871073 | Human | | name |
| 151768342 | CV1345484 | single nucleotide variant | NM_018942.3(HMX1):c.217G>A (p.Ala73Thr) | not provided [RCV001863835] | uncertain significance | 4 | 8871398 | 8871398 | Human | | name |
| 151751264 | CV1406987 | deletion | NM_018942.3(HMX1):c.872del (p.Pro291fs) | not provided [RCV002023402] | uncertain significance | 4 | 8867868 | 8867868 | Human | | name |
| 151781570 | CV1419026 | single nucleotide variant | NM_018942.3(HMX1):c.104C>T (p.Ala35Val) | not provided [RCV001915928] | uncertain significance | 4 | 8871511 | 8871511 | Human | | name |
| 151731054 | CV1420726 | single nucleotide variant | NM_018942.3(HMX1):c.187C>T (p.Arg63Ter) | not provided [RCV002021302] | uncertain significance | 4 | 8871428 | 8871428 | Human | | name |
| 151797215 | CV1424298 | single nucleotide variant | NM_018942.3(HMX1):c.251G>A (p.Arg84His) | not provided [RCV002047655] | uncertain significance | 4 | 8871364 | 8871364 | Human | | name |
| 151817180 | CV1435821 | single nucleotide variant | NM_018942.3(HMX1):c.121A>C (p.Ser41Arg) | not provided [RCV001975371] | uncertain significance | 4 | 8871494 | 8871494 | Human | | name |
| 151777131 | CV1453992 | single nucleotide variant | NM_018942.3(HMX1):c.172G>A (p.Glu58Lys) | not provided [RCV001915535] | uncertain significance | 4 | 8871443 | 8871443 | Human | | name |
| 151824532 | CV1456454 | single nucleotide variant | NM_018942.3(HMX1):c.142G>A (p.Asp48Asn) | not provided [RCV002050126] | uncertain significance | 4 | 8871473 | 8871473 | Human | | name |
| 151779590 | CV1472420 | single nucleotide variant | NM_018942.3(HMX1):c.165G>C (p.Glu55Asp) | not provided [RCV002026132] | uncertain significance | 4 | 8871450 | 8871450 | Human | | name |
| 151766496 | CV1496016 | single nucleotide variant | NM_018942.3(HMX1):c.141G>C (p.Glu47Asp) | not provided [RCV001863659] | uncertain significance | 4 | 8871474 | 8871474 | Human | | name |
| 152116671 | CV1553494 | single nucleotide variant | NM_018942.3(HMX1):c.1026G>A (p.Ala342=) | not provided [RCV002080987] | likely benign | 4 | 8867714 | 8867714 | Human | | name |
| 156311241 | CV1899911 | single nucleotide variant | NM_018942.3(HMX1):c.241G>A (p.Ala81Thr) | not provided [RCV003088460] | uncertain significance | 4 | 8871374 | 8871374 | Human | | name |
| 156384079 | CV1971699 | single nucleotide variant | NM_018942.3(HMX1):c.1046G>A (p.Ter349=) | not provided [RCV002604174] | likely benign | 4 | 8867694 | 8867694 | Human | | name |
| 156324513 | CV1975544 | single nucleotide variant | NM_018942.3(HMX1):c.295C>T (p.Pro99Ser) | not provided [RCV002630570] | uncertain significance | 4 | 8871320 | 8871320 | Human | | name |
| 156336038 | CV1988303 | single nucleotide variant | NM_018942.3(HMX1):c.148G>A (p.Asp50Asn) | not provided [RCV002631191] | uncertain significance | 4 | 8871467 | 8871467 | Human | | name |
| 156373662 | CV2003740 | single nucleotide variant | NM_018942.3(HMX1):c.107C>T (p.Thr36Ile) | not provided [RCV002653108] | uncertain significance | 4 | 8871508 | 8871508 | Human | | name |
| 156291037 | CV2009698 | single nucleotide variant | NM_018942.3(HMX1):c.251G>C (p.Arg84Pro) | not provided [RCV002715653] | uncertain significance | 4 | 8871364 | 8871364 | Human | | name |
| 156147225 | CV2037427 | single nucleotide variant | NM_018942.3(HMX1):c.163G>A (p.Glu55Lys) | not provided [RCV002786731] | uncertain significance | 4 | 8871452 | 8871452 | Human | | name |
| 156110230 | CV2077649 | single nucleotide variant | NM_018942.3(HMX1):c.200G>A (p.Arg67Gln) | not provided [RCV002889157] | uncertain significance | 4 | 8871415 | 8871415 | Human | | name |
| 156119599 | CV2151599 | single nucleotide variant | NM_018942.3(HMX1):c.232G>A (p.Gly78Ser) | not provided [RCV003002927] | uncertain significance | 4 | 8871383 | 8871383 | Human | | name |
| 156128620 | CV2158620 | single nucleotide variant | NM_018942.3(HMX1):c.238G>A (p.Glu80Lys) | not provided [RCV003022088] | uncertain significance | 4 | 8871377 | 8871377 | Human | | name |
| 156231314 | CV2173022 | single nucleotide variant | NM_018942.3(HMX1):c.242C>T (p.Ala81Val) | not provided [RCV003059315] | uncertain significance | 4 | 8871373 | 8871373 | Human | | name |
| 329376669 | CV2438306 | single nucleotide variant | NM_018942.3(HMX1):c.113G>T (p.Gly38Val) | Inborn genetic diseases [RCV003186129] | uncertain significance | 4 | 8871502 | 8871502 | Human | 1 | name |
| 26885728 | CV829534 | single nucleotide variant | NM_018942.3(HMX1):c.224C>G (p.Thr75Ser) | not provided [RCV001053957] | uncertain significance | 4 | 8871391 | 8871391 | Human | | name |
| 26888114 | CV829535 | single nucleotide variant | NM_018942.3(HMX1):c.149A>G (p.Asp50Gly) | not provided [RCV001057111] | uncertain significance | 4 | 8871466 | 8871466 | Human | | name |
| 26920878 | CV829537 | single nucleotide variant | NM_018942.3(HMX1):c.121A>T (p.Ser41Cys) | Inborn genetic diseases [RCV002552649]|not provided [RCV001048726] | uncertain significance | 4 | 8871494 | 8871494 | Human | 1 | name |
| 38470218 | CV932473 | single nucleotide variant | NM_018942.3(HMX1):c.283G>A (p.Gly95Ser) | not provided [RCV001213431] | uncertain significance | 4 | 8871332 | 8871332 | Human | | name |
| 38487222 | CV932474 | single nucleotide variant | NM_018942.3(HMX1):c.250C>G (p.Arg84Gly) | not provided [RCV001209223] | uncertain significance | 4 | 8871365 | 8871365 | Human | | name |
| 38456724 | CV944145 | single nucleotide variant | NM_018942.3(HMX1):c.151G>A (p.Asp51Asn) | not provided [RCV001228411] | uncertain significance | 4 | 8871464 | 8871464 | Human | | name |
| 38479686 | CV944146 | single nucleotide variant | NM_018942.3(HMX1):c.124C>G (p.Arg42Gly) | not provided [RCV001234444] | uncertain significance | 4 | 8871491 | 8871491 | Human | | name |
| 38493378 | CV953866 | single nucleotide variant | NM_018942.3(HMX1):c.262G>C (p.Gly88Arg) | Inborn genetic diseases [RCV002563979]|not provided [RCV001240646] | uncertain significance | 4 | 8871353 | 8871353 | Human | 1 | name |
| 38500129 | CV953867 | single nucleotide variant | NM_018942.3(HMX1):c.233G>A (p.Gly78Asp) | not provided [RCV001245577] | uncertain significance | 4 | 8871382 | 8871382 | Human | | name |
| 126743302 | CV990317 | single nucleotide variant | NM_018942.3(HMX1):c.193C>A (p.Leu65Ile) | not provided [RCV001296171] | uncertain significance | 4 | 8871422 | 8871422 | Human | | name |
| 126758006 | CV1005491 | single nucleotide variant | NM_018942.3(HMX1):c.676C>T (p.Arg226Cys) | not provided [RCV001317656] | uncertain significance | 4 | 8868064 | 8868064 | Human | | name |
| 126756614 | CV1005492 | single nucleotide variant | NM_018942.3(HMX1):c.667G>T (p.Asp223Tyr) | not provided [RCV001317247] | uncertain significance | 4 | 8868073 | 8868073 | Human | | name |
| 126760209 | CV1005493 | single nucleotide variant | NM_018942.3(HMX1):c.527C>T (p.Thr176Met) | not provided [RCV001318277] | uncertain significance | 4 | 8868213 | 8868213 | Human | | name |
| 126757010 | CV1005494 | single nucleotide variant | NM_018942.3(HMX1):c.503C>A (p.Ala168Glu) | not provided [RCV001317361] | uncertain significance | 4 | 8868237 | 8868237 | Human | | name |
| 126771642 | CV1005495 | single nucleotide variant | NM_018942.3(HMX1):c.464C>T (p.Pro155Leu) | not provided [RCV001323277] | uncertain significance | 4 | 8868276 | 8868276 | Human | | name |
| 126740066 | CV1005496 | single nucleotide variant | NM_018942.3(HMX1):c.464C>A (p.Pro155His) | not provided [RCV001314328] | uncertain significance | 4 | 8868276 | 8868276 | Human | | name |
| 126772430 | CV1005497 | single nucleotide variant | NM_018942.3(HMX1):c.440C>A (p.Ala147Glu) | not provided [RCV001323750] | uncertain significance | 4 | 8868300 | 8868300 | Human | | name |
| 126732536 | CV1005498 | single nucleotide variant | NM_018942.3(HMX1):c.301G>T (p.Gly101Cys) | Inborn genetic diseases [RCV004987056]|not provided [RCV001313236] | uncertain significance | 4 | 8871314 | 8871314 | Human | 1 | name |
| 126761569 | CV1026031 | single nucleotide variant | NM_018942.3(HMX1):c.910T>A (p.Phe304Ile) | not provided [RCV001340727] | uncertain significance | 4 | 8867830 | 8867830 | Human | | name |
| 126752002 | CV1026032 | single nucleotide variant | NM_018942.3(HMX1):c.892C>T (p.Pro298Ser) | not provided [RCV001338350] | uncertain significance | 4 | 8867848 | 8867848 | Human | | name |
| 126762737 | CV1026033 | single nucleotide variant | NM_018942.3(HMX1):c.841C>A (p.Arg281Ser) | not provided [RCV001341058] | uncertain significance | 4 | 8867899 | 8867899 | Human | | name |
| 126765747 | CV1026034 | single nucleotide variant | NM_018942.3(HMX1):c.827C>T (p.Ala276Val) | not provided [RCV001342151] | uncertain significance | 4 | 8867913 | 8867913 | Human | | name |
| 126747860 | CV1026035 | single nucleotide variant | NM_018942.3(HMX1):c.565G>A (p.Ala189Thr) | not provided [RCV001351751] | uncertain significance | 4 | 8868175 | 8868175 | Human | | name |
| 126766890 | CV1026036 | single nucleotide variant | NM_018942.3(HMX1):c.551A>T (p.Glu184Val) | not provided [RCV001342602] | uncertain significance | 4 | 8868189 | 8868189 | Human | | name |
| 126773916 | CV1026037 | single nucleotide variant | NM_018942.3(HMX1):c.478G>C (p.Val160Leu) | not provided [RCV001346624] | uncertain significance | 4 | 8868262 | 8868262 | Human | | name |
| 126766385 | CV1026038 | single nucleotide variant | NM_018942.3(HMX1):c.458G>A (p.Arg153Gln) | not provided [RCV001342400] | uncertain significance | 4 | 8868282 | 8868282 | Human | | name |
| 126921832 | CV1042974 | single nucleotide variant | NM_018942.3(HMX1):c.419C>T (p.Thr140Met) | Retinal dystrophy [RCV004815464]|not provided [RCV001363952] | uncertain significance | 4 | 8868321 | 8868321 | Human | 2 | name |
| 126917906 | CV1042975 | single nucleotide variant | NM_018942.3(HMX1):c.412C>G (p.Pro138Ala) | not provided [RCV001361429] | uncertain significance | 4 | 8868328 | 8868328 | Human | | name |
| 126914461 | CV1042976 | single nucleotide variant | NM_018942.3(HMX1):c.331G>C (p.Gly111Arg) | not provided [RCV001370481] | uncertain significance | 4 | 8871284 | 8871284 | Human | | name |
| 127280687 | CV1071958 | single nucleotide variant | NM_018942.3(HMX1):c.964G>C (p.Gly322Arg) | Inborn genetic diseases [RCV002554003]|not provided [RCV001409956] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 4 | 8867776 | 8867776 | Human | 1 | name |
| 127236962 | CV1093562 | single nucleotide variant | NM_018942.3(HMX1):c.491C>T (p.Ala164Val) | Inborn genetic diseases [RCV002555111]|not provided [RCV001422627] | likely benign|uncertain significance | 4 | 8868249 | 8868249 | Human | 1 | name |
| 127313368 | CV1154852 | single nucleotide variant | NM_018942.3(HMX1):c.488A>C (p.Glu163Ala) | not provided [RCV001519226] | benign | 4 | 8868252 | 8868252 | Human | | name |
| 127305715 | CV1154853 | single nucleotide variant | NM_018942.3(HMX1):c.485G>A (p.Arg162Gln) | not provided [RCV001516380] | benign | 4 | 8868255 | 8868255 | Human | | name |
| 127320778 | CV1154854 | single nucleotide variant | NM_018942.3(HMX1):c.448G>T (p.Ala150Ser) | HMX1-related disorder [RCV003940969]|not provided [RCV001522799] | benign | 4 | 8868292 | 8868292 | Human | 1 | name , trait , alternate_id |
| 127290502 | CV1154855 | single nucleotide variant | NM_018942.3(HMX1):c.398G>C (p.Ser133Thr) | not provided [RCV001509861] | benign | 4 | 8868342 | 8868342 | Human | | name |
| 151760713 | CV1343262 | single nucleotide variant | NM_018942.3(HMX1):c.802G>A (p.Ala268Thr) | not provided [RCV002024332] | uncertain significance | 4 | 8867938 | 8867938 | Human | | name |
| 151721709 | CV1347784 | single nucleotide variant | NM_018942.3(HMX1):c.844G>A (p.Val282Met) | not provided [RCV001966077] | uncertain significance | 4 | 8867896 | 8867896 | Human | | name |
| 151853254 | CV1349235 | single nucleotide variant | NM_018942.3(HMX1):c.487G>A (p.Glu163Lys) | Inborn genetic diseases [RCV004631818]|not provided [RCV001923078] | uncertain significance | 4 | 8868253 | 8868253 | Human | 1 | name |
| 151803219 | CV1351766 | single nucleotide variant | NM_018942.3(HMX1):c.461G>A (p.Gly154Asp) | not provided [RCV001974100] | uncertain significance | 4 | 8868279 | 8868279 | Human | | name |
| 151794515 | CV1354083 | single nucleotide variant | NM_018942.3(HMX1):c.934G>A (p.Ala312Thr) | not provided [RCV001990382] | uncertain significance | 4 | 8867806 | 8867806 | Human | | name |
| 151856924 | CV1372812 | single nucleotide variant | NM_018942.3(HMX1):c.443A>G (p.Glu148Gly) | not provided [RCV002033889] | uncertain significance | 4 | 8868297 | 8868297 | Human | | name |
| 151729528 | CV1388830 | single nucleotide variant | NM_018942.3(HMX1):c.332G>T (p.Gly111Val) | not provided [RCV001966960] | uncertain significance | 4 | 8871283 | 8871283 | Human | | name |
| 151765196 | CV1393688 | single nucleotide variant | NM_018942.3(HMX1):c.301G>A (p.Gly101Ser) | not provided [RCV002008305] | uncertain significance | 4 | 8871314 | 8871314 | Human | | name |
| 151826629 | CV1396221 | single nucleotide variant | NM_018942.3(HMX1):c.857A>T (p.Tyr286Phe) | not provided [RCV001934646] | uncertain significance | 4 | 8867883 | 8867883 | Human | | name |
| 151876029 | CV1406105 | single nucleotide variant | NM_018942.3(HMX1):c.898G>A (p.Ala300Thr) | not provided [RCV001981913] | uncertain significance | 4 | 8867842 | 8867842 | Human | | name |
| 151823591 | CV1412235 | single nucleotide variant | NM_018942.3(HMX1):c.399C>A (p.Ser133Arg) | Inborn genetic diseases [RCV004041553]|not provided [RCV001901124] | uncertain significance | 4 | 8868341 | 8868341 | Human | 1 | name |
| 151840296 | CV1415360 | single nucleotide variant | NM_018942.3(HMX1):c.983T>C (p.Leu328Pro) | not provided [RCV001921453] | uncertain significance | 4 | 8867757 | 8867757 | Human | | name |
| 151804537 | CV1424833 | single nucleotide variant | NM_018942.3(HMX1):c.359C>G (p.Ala120Gly) | not provided [RCV001867431] | uncertain significance | 4 | 8871256 | 8871256 | Human | | name |
| 151745464 | CV1433073 | single nucleotide variant | NM_018942.3(HMX1):c.440C>G (p.Ala147Gly) | not provided [RCV001968590] | uncertain significance | 4 | 8868300 | 8868300 | Human | | name |
| 151715783 | CV1445566 | single nucleotide variant | NM_018942.3(HMX1):c.761G>C (p.Arg254Pro) | not provided [RCV002002901] | uncertain significance | 4 | 8867979 | 8867979 | Human | | name |
| 151885417 | CV1451603 | single nucleotide variant | NM_018942.3(HMX1):c.632C>A (p.Ser211Tyr) | not provided [RCV002000480] | uncertain significance | 4 | 8868108 | 8868108 | Human | | name |
| 151806264 | CV1453414 | single nucleotide variant | NM_018942.3(HMX1):c.313C>T (p.Pro105Ser) | not provided [RCV001877830] | uncertain significance | 4 | 8871302 | 8871302 | Human | | name |
| 151732111 | CV1454481 | single nucleotide variant | NM_018942.3(HMX1):c.761G>A (p.Arg254His) | not provided [RCV001967225] | uncertain significance | 4 | 8867979 | 8867979 | Human | | name |
| 151876297 | CV1458613 | single nucleotide variant | NM_018942.3(HMX1):c.964G>A (p.Gly322Arg) | Inborn genetic diseases [RCV004989023]|not provided [RCV001998978] | uncertain significance | 4 | 8867776 | 8867776 | Human | 1 | name |
| 151831703 | CV1459428 | single nucleotide variant | NM_018942.3(HMX1):c.577C>T (p.Arg193Cys) | not provided [RCV002050783] | uncertain significance | 4 | 8868163 | 8868163 | Human | | name |
| 151840949 | CV1463035 | single nucleotide variant | NM_018942.3(HMX1):c.710C>G (p.Ala237Gly) | not provided [RCV002031810] | uncertain significance | 4 | 8868030 | 8868030 | Human | | name |
| 151833374 | CV1475499 | single nucleotide variant | NM_018942.3(HMX1):c.941C>G (p.Pro314Arg) | not provided [RCV001993928] | uncertain significance | 4 | 8867799 | 8867799 | Human | | name |
| 151884219 | CV1476860 | single nucleotide variant | NM_018942.3(HMX1):c.803C>G (p.Ala268Gly) | Inborn genetic diseases [RCV004039103]|not provided [RCV001887103] | uncertain significance | 4 | 8867937 | 8867937 | Human | 1 | name |
| 151849435 | CV1480494 | single nucleotide variant | NM_018942.3(HMX1):c.848C>T (p.Pro283Leu) | not provided [RCV001903890] | uncertain significance | 4 | 8867892 | 8867892 | Human | | name |
| 151848129 | CV1484126 | single nucleotide variant | NM_018942.3(HMX1):c.771G>C (p.Lys257Asn) | not provided [RCV001903721] | uncertain significance | 4 | 8867969 | 8867969 | Human | | name |
| 151747014 | CV1485290 | single nucleotide variant | NM_018942.3(HMX1):c.872C>G (p.Pro291Arg) | not provided [RCV002006425] | uncertain significance | 4 | 8867868 | 8867868 | Human | | name |
| 151876020 | CV1487147 | single nucleotide variant | NM_018942.3(HMX1):c.461G>T (p.Gly154Val) | not provided [RCV001907072] | uncertain significance | 4 | 8868279 | 8868279 | Human | | name |
| 151787430 | CV1488694 | single nucleotide variant | NM_018942.3(HMX1):c.703G>A (p.Gly235Ser) | Inborn genetic diseases [RCV002657642]|not provided [RCV002010339] | uncertain significance | 4 | 8868037 | 8868037 | Human | 1 | name |
| 151838832 | CV1492788 | single nucleotide variant | NM_018942.3(HMX1):c.901A>C (p.Thr301Pro) | not provided [RCV001881096] | uncertain significance | 4 | 8867839 | 8867839 | Human | | name |
| 151723241 | CV1494489 | single nucleotide variant | NM_018942.3(HMX1):c.608A>C (p.Lys203Thr) | not provided [RCV001983366] | uncertain significance | 4 | 8868132 | 8868132 | Human | | name |
| 151765228 | CV1495790 | single nucleotide variant | NM_018942.3(HMX1):c.995C>A (p.Pro332Gln) | Inborn genetic diseases [RCV002545769]|not provided [RCV001863537] | uncertain significance | 4 | 8867745 | 8867745 | Human | 1 | name |
| 151856762 | CV1500105 | single nucleotide variant | NM_018942.3(HMX1):c.545T>G (p.Leu182Arg) | not provided [RCV001938047] | uncertain significance | 4 | 8868195 | 8868195 | Human | | name |
| 151759110 | CV1503629 | single nucleotide variant | NM_018942.3(HMX1):c.878C>T (p.Ala293Val) | not provided [RCV002007648] | uncertain significance | 4 | 8867862 | 8867862 | Human | | name |
| 151817605 | CV1505663 | single nucleotide variant | NM_018942.3(HMX1):c.382C>T (p.Leu128Phe) | not provided [RCV002049472] | uncertain significance | 4 | 8871233 | 8871233 | Human | | name |
| 151719907 | CV1505949 | single nucleotide variant | NM_018942.3(HMX1):c.896C>G (p.Pro299Arg) | not provided [RCV002039920] | uncertain significance | 4 | 8867844 | 8867844 | Human | | name |
| 151824255 | CV1506910 | single nucleotide variant | NM_018942.3(HMX1):c.614A>C (p.Lys205Thr) | not provided [RCV001955066] | uncertain significance | 4 | 8868126 | 8868126 | Human | | name |
| 151734173 | CV1512532 | single nucleotide variant | NM_018942.3(HMX1):c.749G>A (p.Trp250Ter) | not provided [RCV002021606] | uncertain significance | 4 | 8867991 | 8867991 | Human | | name |
| 151847583 | CV1515115 | single nucleotide variant | NM_018942.3(HMX1):c.563C>A (p.Ala188Glu) | Inborn genetic diseases [RCV005350835]|not provided [RCV001978493] | uncertain significance | 4 | 8868177 | 8868177 | Human | 1 | name |
| 155668715 | CV1770867 | single nucleotide variant | NM_018942.3(HMX1):c.760C>T (p.Arg254Cys) | not provided [RCV002297217] | uncertain significance | 4 | 8867980 | 8867980 | Human | | name |
| 155717700 | CV1775463 | single nucleotide variant | NM_018942.3(HMX1):c.602G>A (p.Gly201Asp) | not provided [RCV002301142] | uncertain significance | 4 | 8868138 | 8868138 | Human | | name |
| 156385319 | CV1874844 | single nucleotide variant | NM_018942.3(HMX1):c.509G>A (p.Arg170His) | not provided [RCV003050811] | uncertain significance | 4 | 8868231 | 8868231 | Human | | name |
| 10046782 | CV190108 | single nucleotide variant | NM_018942.3(HMX1):c.650A>C (p.Gln217Pro) | Oculoauricular syndrome [RCV000172907] | pathogenic | 4 | 8868090 | 8868090 | Human | 1 | name |
| 156435390 | CV1940748 | single nucleotide variant | NM_018942.3(HMX1):c.947C>T (p.Pro316Leu) | not provided [RCV003104853] | uncertain significance | 4 | 8867793 | 8867793 | Human | | name |
| 156156106 | CV1967647 | single nucleotide variant | NM_018942.3(HMX1):c.691G>A (p.Ala231Thr) | not provided [RCV002594305] | uncertain significance | 4 | 8868049 | 8868049 | Human | | name |
| 156346759 | CV1970573 | single nucleotide variant | NM_018942.3(HMX1):c.809G>A (p.Ser270Asn) | not provided [RCV002601561] | uncertain significance | 4 | 8867931 | 8867931 | Human | | name |
| 156068357 | CV1971942 | single nucleotide variant | NM_018942.3(HMX1):c.874G>T (p.Ala292Ser) | Inborn genetic diseases [RCV004632025]|not provided [RCV002621169] | uncertain significance | 4 | 8867866 | 8867866 | Human | 1 | name |
| 156380977 | CV1978674 | single nucleotide variant | NM_018942.3(HMX1):c.469C>T (p.Pro157Ser) | not provided [RCV002603962] | uncertain significance | 4 | 8868271 | 8868271 | Human | | name |
| 156156629 | CV1987837 | single nucleotide variant | NM_018942.3(HMX1):c.688A>G (p.Ser230Gly) | not provided [RCV002642254] | uncertain significance | 4 | 8868052 | 8868052 | Human | | name |
| 156001956 | CV1987866 | single nucleotide variant | NM_018942.3(HMX1):c.853C>T (p.Leu285Phe) | not provided [RCV002618493] | uncertain significance | 4 | 8867887 | 8867887 | Human | | name |
| 156097847 | CV2012977 | single nucleotide variant | NM_018942.3(HMX1):c.821C>T (p.Pro274Leu) | not provided [RCV002706553] | uncertain significance | 4 | 8867919 | 8867919 | Human | | name |
| 155954986 | CV2014240 | single nucleotide variant | NM_018942.3(HMX1):c.341C>G (p.Ala114Gly) | not provided [RCV002686218] | uncertain significance | 4 | 8871274 | 8871274 | Human | | name |
| 155913653 | CV2021854 | single nucleotide variant | NM_018942.3(HMX1):c.818C>T (p.Pro273Leu) | not provided [RCV002726985] | uncertain significance | 4 | 8867922 | 8867922 | Human | | name |
| 155960733 | CV2023619 | single nucleotide variant | NM_018942.3(HMX1):c.340G>C (p.Ala114Pro) | not provided [RCV002731163] | uncertain significance | 4 | 8871275 | 8871275 | Human | | name |
| 156072548 | CV2028992 | single nucleotide variant | NM_018942.3(HMX1):c.304C>T (p.Pro102Ser) | not provided [RCV002760364] | uncertain significance | 4 | 8871311 | 8871311 | Human | | name |
| 155916854 | CV2031873 | single nucleotide variant | NM_018942.3(HMX1):c.928G>A (p.Ala310Thr) | not provided [RCV002727177] | uncertain significance | 4 | 8867812 | 8867812 | Human | | name |
| 156241139 | CV2053100 | single nucleotide variant | NM_018942.3(HMX1):c.299C>G (p.Pro100Arg) | not provided [RCV002791356] | uncertain significance | 4 | 8871316 | 8871316 | Human | | name |
| 155939796 | CV2054855 | single nucleotide variant | NM_018942.3(HMX1):c.683T>C (p.Leu228Pro) | not provided [RCV002815615] | uncertain significance | 4 | 8868057 | 8868057 | Human | | name |
| 156003931 | CV2057629 | single nucleotide variant | NM_018942.3(HMX1):c.730G>C (p.Glu244Gln) | not provided [RCV002819787] | uncertain significance | 4 | 8868010 | 8868010 | Human | | name |
| 155996268 | CV2064050 | single nucleotide variant | NM_018942.3(HMX1):c.965G>A (p.Gly322Glu) | not provided [RCV002843195] | uncertain significance | 4 | 8867775 | 8867775 | Human | | name |
| 156299649 | CV2069840 | single nucleotide variant | NM_018942.3(HMX1):c.977A>T (p.Tyr326Phe) | not provided [RCV002833560] | uncertain significance | 4 | 8867763 | 8867763 | Human | | name |
| 155920611 | CV2073689 | single nucleotide variant | NM_018942.3(HMX1):c.602G>T (p.Gly201Val) | not provided [RCV002838301] | uncertain significance | 4 | 8868138 | 8868138 | Human | | name |
| 156128336 | CV2104319 | single nucleotide variant | NM_018942.3(HMX1):c.386G>T (p.Ser129Ile) | Inborn genetic diseases [RCV004066276]|not provided [RCV002914453] | uncertain significance | 4 | 8871229 | 8871229 | Human | 1 | name |
| 155936692 | CV2114226 | single nucleotide variant | NM_018942.3(HMX1):c.651G>C (p.Gln217His) | not provided [RCV002904187] | uncertain significance | 4 | 8868089 | 8868089 | Human | | name |
| 156279628 | CV2137479 | single nucleotide variant | NM_018942.3(HMX1):c.311C>T (p.Pro104Leu) | not provided [RCV003009551] | uncertain significance | 4 | 8871304 | 8871304 | Human | | name |
| 156024847 | CV2137691 | single nucleotide variant | NM_018942.3(HMX1):c.530A>C (p.Glu177Ala) | not provided [RCV002976334] | uncertain significance | 4 | 8868210 | 8868210 | Human | | name |
| 156088359 | CV2155474 | single nucleotide variant | NM_018942.3(HMX1):c.779G>A (p.Arg260Gln) | not provided [RCV003020590] | uncertain significance | 4 | 8867961 | 8867961 | Human | | name |
| 155932030 | CV2156760 | single nucleotide variant | NM_018942.3(HMX1):c.667G>C (p.Asp223His) | not provided [RCV003013687] | uncertain significance | 4 | 8868073 | 8868073 | Human | | name |
| 156162796 | CV2157890 | single nucleotide variant | NM_018942.3(HMX1):c.920C>T (p.Ala307Val) | not provided [RCV003023256] | uncertain significance | 4 | 8867820 | 8867820 | Human | | name |
| 156364241 | CV2176771 | single nucleotide variant | NM_018942.3(HMX1):c.562G>T (p.Ala188Ser) | not provided [RCV003049231] | uncertain significance | 4 | 8868178 | 8868178 | Human | | name |
| 156223673 | CV2183784 | single nucleotide variant | NM_018942.3(HMX1):c.637A>T (p.Ser213Cys) | not provided [RCV003025293] | uncertain significance | 4 | 8868103 | 8868103 | Human | | name |
| 156355506 | CV2188766 | single nucleotide variant | NM_018942.3(HMX1):c.911T>C (p.Phe304Ser) | not provided [RCV003048655] | uncertain significance | 4 | 8867829 | 8867829 | Human | | name |
| 156145104 | CV2208826 | single nucleotide variant | NM_018942.3(HMX1):c.865A>C (p.Ser289Arg) | Inborn genetic diseases [RCV002697294] | uncertain significance | 4 | 8867875 | 8867875 | Human | 1 | name |
| 156380454 | CV2208827 | single nucleotide variant | NM_018942.3(HMX1):c.866G>C (p.Ser289Thr) | Inborn genetic diseases [RCV002678597] | uncertain significance | 4 | 8867874 | 8867874 | Human | 1 | name |
| 155949135 | CV2242632 | single nucleotide variant | NM_018942.3(HMX1):c.451T>G (p.Trp151Gly) | Inborn genetic diseases [RCV002752852] | uncertain significance | 4 | 8868289 | 8868289 | Human | 1 | name |
| 156037107 | CV2250118 | single nucleotide variant | NM_018942.3(HMX1):c.523G>T (p.Gly175Cys) | Inborn genetic diseases [RCV002821474] | uncertain significance | 4 | 8868217 | 8868217 | Human | 1 | name |
| 156037123 | CV2250119 | single nucleotide variant | NM_018942.3(HMX1):c.872C>T (p.Pro291Leu) | Inborn genetic diseases [RCV002821475] | uncertain significance | 4 | 8867868 | 8867868 | Human | 1 | name |
| 156279919 | CV2315931 | single nucleotide variant | NM_018942.3(HMX1):c.986C>T (p.Ala329Val) | Inborn genetic diseases [RCV002934873] | uncertain significance | 4 | 8867754 | 8867754 | Human | 1 | name |
| 155988724 | CV2371852 | single nucleotide variant | NM_018942.3(HMX1):c.365G>A (p.Gly122Asp) | Inborn genetic diseases [RCV002689020] | uncertain significance | 4 | 8871250 | 8871250 | Human | 1 | name |
| 156344999 | CV2382032 | single nucleotide variant | NM_018942.3(HMX1):c.734C>T (p.Thr245Met) | Inborn genetic diseases [RCV002719600] | uncertain significance | 4 | 8868006 | 8868006 | Human | 1 | name |
| 329397853 | CV2466365 | single nucleotide variant | NM_018942.3(HMX1):c.616A>G (p.Thr206Ala) | Inborn genetic diseases [RCV003195762] | uncertain significance | 4 | 8868124 | 8868124 | Human | 1 | name |
| 401721079 | CV2702256 | single nucleotide variant | NM_018942.3(HMX1):c.524G>T (p.Gly175Val) | Inborn genetic diseases [RCV003267459] | uncertain significance | 4 | 8868216 | 8868216 | Human | 1 | name |
| 401895204 | CV2792847 | single nucleotide variant | NM_018942.3(HMX1):c.452G>C (p.Trp151Ser) | Inborn genetic diseases [RCV003372245] | uncertain significance | 4 | 8868288 | 8868288 | Human | 1 | name |
| 405791088 | CV3266911 | single nucleotide variant | NM_018942.3(HMX1):c.704G>A (p.Gly235Asp) | Inborn genetic diseases [RCV004399734] | uncertain significance | 4 | 8868036 | 8868036 | Human | 1 | name |
| 405791092 | CV3266912 | single nucleotide variant | NM_018942.3(HMX1):c.850G>A (p.Val284Met) | Inborn genetic diseases [RCV004399735] | uncertain significance | 4 | 8867890 | 8867890 | Human | 1 | name |
| 407510753 | CV3433676 | single nucleotide variant | NM_018942.3(HMX1):c.470C>G (p.Pro157Arg) | Inborn genetic diseases [RCV004626227] | uncertain significance | 4 | 8868270 | 8868270 | Human | 1 | name |
| 407527773 | CV3433677 | single nucleotide variant | NM_018942.3(HMX1):c.862G>A (p.Glu288Lys) | Inborn genetic diseases [RCV004632897] | uncertain significance | 4 | 8867878 | 8867878 | Human | 1 | name |
| 597691635 | CV3679381 | single nucleotide variant | NM_018942.3(HMX1):c.638G>A (p.Ser213Asn) | Inborn genetic diseases [RCV004985865] | uncertain significance | 4 | 8868102 | 8868102 | Human | 1 | name |
| 597691641 | CV3679382 | single nucleotide variant | NM_018942.3(HMX1):c.580G>T (p.Gly194Cys) | Inborn genetic diseases [RCV004985866] | uncertain significance | 4 | 8868160 | 8868160 | Human | 1 | name |
| 598190647 | CV3975431 | single nucleotide variant | NM_018942.3(HMX1):c.868C>T (p.Pro290Ser) | Inborn genetic diseases [RCV005354163] | uncertain significance | 4 | 8867872 | 8867872 | Human | 1 | name |
| 13478812 | CV443644 | single nucleotide variant | NM_018942.3(HMX1):c.793G>A (p.Glu265Lys) | not provided [RCV000520780] | uncertain significance | 4 | 8867947 | 8867947 | Human | | name |
| 14732737 | CV655617 | single nucleotide variant | NM_018942.3(HMX1):c.364G>A (p.Gly122Ser) | not provided [RCV000836771] | benign | 4 | 8871251 | 8871251 | Human | | name |
| 26885281 | CV829525 | single nucleotide variant | NM_018942.3(HMX1):c.922C>T (p.Pro308Ser) | Inborn genetic diseases [RCV003160422]|not provided [RCV001053293] | uncertain significance | 4 | 8867818 | 8867818 | Human | 1 | name |
| 26921627 | CV829526 | single nucleotide variant | NM_018942.3(HMX1):c.913C>T (p.Pro305Ser) | not provided [RCV001050381] | uncertain significance | 4 | 8867827 | 8867827 | Human | | name |
| 26921355 | CV829527 | single nucleotide variant | NM_018942.3(HMX1):c.824G>A (p.Gly275Glu) | Inborn genetic diseases [RCV002553721]|Retinal dystrophy [RCV004813615]|not provided [RCV001049781] | uncertain significance | 4 | 8867916 | 8867916 | Human | 3 | name |
| 26884645 | CV829528 | single nucleotide variant | NM_018942.3(HMX1):c.587T>C (p.Val196Ala) | Inborn genetic diseases [RCV004031633]|not provided [RCV001052233] | uncertain significance | 4 | 8868153 | 8868153 | Human | 1 | name |
| 26922095 | CV829529 | single nucleotide variant | NM_018942.3(HMX1):c.578G>T (p.Arg193Leu) | Inborn genetic diseases [RCV004031600]|Retinal dystrophy [RCV004813621]|not provided [RCV001051433] | uncertain significance | 4 | 8868162 | 8868162 | Human | 3 | name |
| 26922079 | CV829530 | single nucleotide variant | NM_018942.3(HMX1):c.484C>G (p.Arg162Gly) | not provided [RCV001051417] | uncertain significance | 4 | 8868256 | 8868256 | Human | | name |
| 26921400 | CV829531 | single nucleotide variant | NM_018942.3(HMX1):c.437G>A (p.Arg146His) | not provided [RCV001049834] | uncertain significance | 4 | 8868303 | 8868303 | Human | | name |
| 26913829 | CV829532 | single nucleotide variant | NM_018942.3(HMX1):c.418A>G (p.Thr140Ala) | not provided [RCV001036568] | uncertain significance | 4 | 8868322 | 8868322 | Human | | name |
| 28892873 | CV859357 | single nucleotide variant | NM_018942.3(HMX1):c.335G>T (p.Gly112Val) | Retinal dystrophy [RCV004813752]|not provided [RCV001092550] | uncertain significance | 4 | 8871280 | 8871280 | Human | 2 | name |
| 38487136 | CV932466 | single nucleotide variant | NM_018942.3(HMX1):c.967G>A (p.Ala323Thr) | not provided [RCV001209188] | uncertain significance | 4 | 8867773 | 8867773 | Human | | name |
| 38485176 | CV932467 | single nucleotide variant | NM_018942.3(HMX1):c.961T>G (p.Ser321Ala) | not provided [RCV001208361] | uncertain significance | 4 | 8867779 | 8867779 | Human | | name |
| 38488807 | CV932468 | single nucleotide variant | NM_018942.3(HMX1):c.794A>G (p.Glu265Gly) | not provided [RCV001209923] | uncertain significance | 4 | 8867946 | 8867946 | Human | | name |
| 38469697 | CV932469 | single nucleotide variant | NM_018942.3(HMX1):c.617C>G (p.Thr206Arg) | not provided [RCV001202278] | uncertain significance | 4 | 8868123 | 8868123 | Human | | name |
| 38468601 | CV932470 | single nucleotide variant | NM_018942.3(HMX1):c.601G>A (p.Gly201Ser) | not provided [RCV001213169] | uncertain significance | 4 | 8868139 | 8868139 | Human | | name |
| 38484396 | CV932471 | single nucleotide variant | NM_018942.3(HMX1):c.476C>T (p.Ala159Val) | not provided [RCV001208031] | uncertain significance | 4 | 8868264 | 8868264 | Human | | name |
| 38467560 | CV932472 | single nucleotide variant | NM_018942.3(HMX1):c.470C>T (p.Pro157Leu) | not provided [RCV001202048] | uncertain significance | 4 | 8868270 | 8868270 | Human | | name |
| 38496469 | CV944142 | single nucleotide variant | NM_018942.3(HMX1):c.808A>G (p.Ser270Gly) | not provided [RCV001226412] | uncertain significance | 4 | 8867932 | 8867932 | Human | | name |
| 38488950 | CV944143 | single nucleotide variant | NM_018942.3(HMX1):c.793G>C (p.Glu265Gln) | Inborn genetic diseases [RCV002563910]|not provided [RCV001238216] | uncertain significance | 4 | 8867947 | 8867947 | Human | 1 | name |
| 38499972 | CV953864 | single nucleotide variant | NM_018942.3(HMX1):c.617C>T (p.Thr206Met) | not provided [RCV001245332] | uncertain significance | 4 | 8868123 | 8868123 | Human | | name |
| 38458356 | CV953865 | single nucleotide variant | NM_018942.3(HMX1):c.494C>G (p.Ala165Gly) | Inborn genetic diseases [RCV002568651]|not provided [RCV001246314] | uncertain significance | 4 | 8868246 | 8868246 | Human | 1 | name |
| 126737420 | CV990311 | single nucleotide variant | NM_018942.3(HMX1):c.515C>T (p.Pro172Leu) | not provided [RCV001295352] | uncertain significance | 4 | 8868225 | 8868225 | Human | | name |
| 126743983 | CV990312 | single nucleotide variant | NM_018942.3(HMX1):c.424G>A (p.Glu142Lys) | HMX1-related disorder [RCV004758157]|not provided [RCV001305782] | uncertain significance | 4 | 8868316 | 8868316 | Human | 1 | name , trait , alternate_id |
| 126729766 | CV990313 | single nucleotide variant | NM_018942.3(HMX1):c.394A>G (p.Thr132Ala) | not provided [RCV001303622] | uncertain significance | 4 | 8871221 | 8871221 | Human | | name |
| 126732543 | CV990314 | single nucleotide variant | NM_018942.3(HMX1):c.371A>T (p.Tyr124Phe) | not provided [RCV001294578] | uncertain significance | 4 | 8871244 | 8871244 | Human | | name |
| 126732403 | CV990315 | single nucleotide variant | NM_018942.3(HMX1):c.352C>T (p.Pro118Ser) | not provided [RCV001304079] | uncertain significance | 4 | 8871263 | 8871263 | Human | | name |
| 126733010 | CV990316 | single nucleotide variant | NM_018942.3(HMX1):c.335G>A (p.Gly112Asp) | Inborn genetic diseases [RCV004035614]|not provided [RCV001294664] | uncertain significance | 4 | 8871280 | 8871280 | Human | 1 | name |
| 126917147 | CV1042972 | single nucleotide variant | NM_018942.3(HMX1):c.1001C>T (p.Ala334Val) | not provided [RCV001360997] | uncertain significance | 4 | 8867739 | 8867739 | Human | | name |
| 151727899 | CV1505167 | single nucleotide variant | NM_018942.3(HMX1):c.1000G>A (p.Ala334Thr) | Inborn genetic diseases [RCV003348765]|not provided [RCV002020994] | uncertain significance | 4 | 8867740 | 8867740 | Human | 1 | name |
| 156105723 | CV2139887 | single nucleotide variant | NM_018942.3(HMX1):c.1012C>T (p.Pro338Ser) | not provided [RCV003002385] | uncertain significance | 4 | 8867728 | 8867728 | Human | | name |
| 401737673 | CV2699879 | single nucleotide variant | NM_018942.3(HMX1):c.1021C>T (p.Arg341Trp) | Inborn genetic diseases [RCV003291621] | uncertain significance | 4 | 8867719 | 8867719 | Human | 1 | name |
| 598248742 | CV3975432 | single nucleotide variant | NM_018942.3(HMX1):c.1000G>C (p.Ala334Pro) | Inborn genetic diseases [RCV005345487] | uncertain significance | 4 | 8867740 | 8867740 | Human | 1 | name |
| 598190652 | CV3975433 | single nucleotide variant | NM_018942.3(HMX1):c.1015T>C (p.Phe339Leu) | Inborn genetic diseases [RCV005354164] | uncertain significance | 4 | 8867725 | 8867725 | Human | 1 | name |
| 26899298 | CV829523 | single nucleotide variant | NM_018942.3(HMX1):c.1030A>G (p.Met344Val) | not provided [RCV001067088] | uncertain significance | 4 | 8867710 | 8867710 | Human | | name |
| 26894528 | CV829524 | single nucleotide variant | NM_018942.3(HMX1):c.1001C>G (p.Ala334Gly) | Inborn genetic diseases [RCV002555824]|not provided [RCV001063546] | uncertain significance | 4 | 8867739 | 8867739 | Human | 1 | name |
| 38471566 | CV932465 | single nucleotide variant | NM_018942.3(HMX1):c.1024G>A (p.Ala342Thr) | Inborn genetic diseases [RCV004033908]|not provided [RCV001213804] | uncertain significance | 4 | 8867716 | 8867716 | Human | 1 | name |
| 8564499 | CV29904 | deletion | NM_018942.3(HMX1):c.215_240del (p.Leu72fs) | Oculoauricular syndrome [RCV000015991] | pathogenic | 4 | 8871375 | 8871400 | Human | 1 | name |
| 26886178 | CV829536 | microsatellite | NM_018942.3(HMX1):c.135GGA[2] (p.Glu47del) | not provided [RCV001054622] | uncertain significance | 4 | 8871472 | 8871474 | Human | | name |
| 151793723 | CV1372481 | duplication | NM_018942.3(HMX1):c.563_579dup (p.Gly194fs) | not provided [RCV001973286] | uncertain significance | 4 | 8868160 | 8868161 | Human | | name |
| 151818466 | CV1449831 | microsatellite | NM_018942.3(HMX1):c.595GGC[4] (p.Gly201dup) | not provided [RCV001878978] | uncertain significance | 4 | 8868136 | 8868137 | Human | | name |
| 151766238 | CV1516164 | microsatellite | NM_018942.3(HMX1):c.608AGA[2] (p.Lys205del) | not provided [RCV002024916] | uncertain significance | 4 | 8868124 | 8868126 | Human | | name |
| 156020419 | CV2142693 | microsatellite | NM_018942.3(HMX1):c.936_937dup (p.Pro313fs) | not provided [RCV002998645] | uncertain significance | 4 | 8867802 | 8867803 | Human | | name |
| 156359921 | CV2162414 | deletion | NM_018942.3(HMX1):c.567_585del (p.Gly190fs) | not provided [RCV003031491] | uncertain significance | 4 | 8868155 | 8868173 | Human | | name |
| 401928392 | CV2795529 | microsatellite | NM_018942.3(HMX1):c.691_692dup (p.Glu232fs) | Isolated microphthalmia 6 [RCV003389574] | pathogenic | 4 | 8868047 | 8868048 | Human | | name |
| 151891618 | CV1368109 | duplication | NM_018942.3(HMX1):c.927_935dup (p.307APA[3]) | not provided [RCV001888783] | uncertain significance | 4 | 8867804 | 8867805 | Human | | name |
| 38495353 | CV953863 | inversion | NM_018942.3(HMX1):c.878_879inv (p.Ala293Val) | not provided [RCV001241889] | uncertain significance | 4 | 8867861 | 8867862 | Human | | name |
| 151713622 | CV1464221 | microsatellite | NM_018942.3(HMX1):c.927CGCGCC[3] (p.310AP[3]) | not provided [RCV001964782] | uncertain significance | 4 | 8867801 | 8867802 | Human | | name |
| 151863617 | CV1445587 | deletion | NM_018942.3(HMX1):c.146_169del (p.Asp49_Asp56del) | not provided [RCV002018075] | uncertain significance | 4 | 8871446 | 8871469 | Human | | name |
| 26884501 | CV829533 | deletion | NM_018942.3(HMX1):c.200_256del (p.Arg67_Ala85del) | not provided [RCV001051907] | uncertain significance | 4 | 8871359 | 8871415 | Human | | name |
| 38486994 | CV932475 | deletion | NM_018942.3(HMX1):c.191_208del (p.Arg64_Arg69del) | not provided [RCV001209135] | uncertain significance | 4 | 8871407 | 8871424 | Human | | name |
| 151880471 | CV1388504 | deletion | NM_018942.3(HMX1):c.877_900del (p.Ala293_Ala300del) | not provided [RCV001982467] | uncertain significance | 4 | 8867840 | 8867863 | Human | | name |
| 151775701 | CV1413654 | duplication | NM_018942.3(HMX1):c.570_581dup (p.Glu191_Gly194dup) | not provided [RCV001971607] | uncertain significance | 4 | 8868158 | 8868159 | Human | | name |
| 405275788 | CV3210877 | single nucleotide variant | NC_000004.12:g.8846143C>T | HMX1-related disorder [RCV003939377] | likely benign | 4 | 8846143 | 8846143 | Human | | trait , alternate_id |
