| 408395140 | CV3522319 | deletion | MSL2, 4-BP DEL, 694TCTG | Karayol-Borroto-Haghshenas neurodevelopmental syndrome [RCV004765397] | pathogenic | | | | Human | 1 | name |
| 401866828 | CV2748736 | single nucleotide variant | NM_018133.4(MSL2):c.67G>T (p.Gly23Ter) | Syndromic neurodevelopmental disorder [RCV003331563] | pathogenic | 3 | 136195047 | 136195047 | Human | | name |
| 408377523 | CV3501598 | duplication | NM_018133.4(MSL2):c.191dup (p.His64fs) | not provided [RCV004727656] | uncertain significance | 3 | 136152689 | 136152690 | Human | | name |
| 13442658 | CV434583 | single nucleotide variant | NM_018133.4(MSL2):c.73C>T (p.Pro25Ser) | not provided [RCV000509141] | not provided | 3 | 136195041 | 136195041 | Human | | name |
| 156274389 | CV2202609 | single nucleotide variant | NM_018133.4(MSL2):c.163A>G (p.Ile55Val) | not specified [RCV004082866] | uncertain significance | 3 | 136152718 | 136152718 | Human | | name |
| 155989136 | CV2259659 | duplication | NM_018133.4(MSL2):c.521dup (p.Leu174fs) | not specified [RCV004116692] | pathogenic|uncertain significance | 3 | 136152359 | 136152360 | Human | | name |
| 408374755 | CV3502514 | single nucleotide variant | NM_018133.4(MSL2):c.115C>T (p.Arg39Ter) | not provided [RCV004726101] | uncertain significance | 3 | 136194999 | 136194999 | Human | | name |
| 596938552 | CV3549628 | duplication | NM_018133.4(MSL2):c.659dup (p.Cys221fs) | not provided [RCV004812668] | uncertain significance | 3 | 136152221 | 136152222 | Human | | name |
| 617153841 | CV4018709 | single nucleotide variant | NM_018133.4(MSL2):c.119A>G (p.Gln40Arg) | Karayol-Borroto-Haghshenas neurodevelopmental syndrome [RCV005422622] | pathogenic | 3 | 136194995 | 136194995 | Human | 1 | name |
| 617154258 | CV4022671 | single nucleotide variant | NM_018133.4(MSL2):c.110A>C (p.Tyr37Ser) | not provided [RCV005430029] | uncertain significance | 3 | 136195004 | 136195004 | Human | | name |
| 156164807 | CV2195907 | single nucleotide variant | NM_018133.4(MSL2):c.992C>G (p.Ala331Gly) | not specified [RCV004072167] | uncertain significance | 3 | 136151889 | 136151889 | Human | | name |
| 156274960 | CV2287546 | single nucleotide variant | NM_018133.4(MSL2):c.959G>C (p.Ser320Thr) | not specified [RCV004140998] | uncertain significance | 3 | 136151922 | 136151922 | Human | | name |
| 156070556 | CV2318886 | single nucleotide variant | NM_018133.4(MSL2):c.593A>G (p.Asn198Ser) | not specified [RCV004175786] | uncertain significance | 3 | 136152288 | 136152288 | Human | | name |
| 329368424 | CV2453268 | single nucleotide variant | NM_018133.4(MSL2):c.535G>T (p.Glu179Ter) | not specified [RCV004266907] | pathogenic|uncertain significance | 3 | 136152346 | 136152346 | Human | | name |
| 329355639 | CV2477531 | deletion | NM_018133.4(MSL2):c.1102del (p.Ala368fs) | Autism [RCV003223478] | uncertain significance | 3 | 136151779 | 136151779 | Human | 2 | name |
| 401736625 | CV2689390 | single nucleotide variant | NM_018133.4(MSL2):c.739T>C (p.Cys247Arg) | not specified [RCV004306207] | uncertain significance | 3 | 136152142 | 136152142 | Human | | name |
| 401734717 | CV2690661 | single nucleotide variant | NM_018133.4(MSL2):c.629C>T (p.Pro210Leu) | not specified [RCV004298395] | uncertain significance | 3 | 136152252 | 136152252 | Human | | name |
| 401764182 | CV2717252 | single nucleotide variant | NM_018133.4(MSL2):c.658G>T (p.Val220Leu) | not specified [RCV004324075] | uncertain significance | 3 | 136152223 | 136152223 | Human | | name |
| 405746851 | CV3368621 | single nucleotide variant | NM_018133.4(MSL2):c.658G>A (p.Val220Ile) | not specified [RCV004498519] | uncertain significance | 3 | 136152223 | 136152223 | Human | | name |
| 405747012 | CV3368641 | single nucleotide variant | NM_018133.4(MSL2):c.971A>T (p.His324Leu) | not specified [RCV004498539] | uncertain significance | 3 | 136151910 | 136151910 | Human | | name |
| 407425186 | CV3411150 | duplication | NM_018133.4(MSL2):c.1134dup (p.Lys379fs) | not provided [RCV004588841] | uncertain significance | 3 | 136151746 | 136151747 | Human | | name |
| 408380892 | CV3501721 | deletion | NM_018133.4(MSL2):c.1414del (p.Ser472fs) | not provided [RCV004729249] | uncertain significance | 3 | 136151467 | 136151467 | Human | | name |
| 408381475 | CV3501935 | single nucleotide variant | NM_018133.4(MSL2):c.473C>G (p.Ser158Cys) | not provided [RCV004729463] | uncertain significance | 3 | 136152408 | 136152408 | Human | | name |
| 408381756 | CV3502020 | single nucleotide variant | NM_018133.4(MSL2):c.328A>G (p.Ile110Val) | not provided [RCV004729548] | uncertain significance | 3 | 136152553 | 136152553 | Human | | name |
| 597635735 | CV3554607 | single nucleotide variant | NM_018133.4(MSL2):c.604A>G (p.Ile202Val) | not specified [RCV004831246] | uncertain significance | 3 | 136152277 | 136152277 | Human | | name |
| 597635746 | CV3554610 | single nucleotide variant | NM_018133.4(MSL2):c.586A>G (p.Thr196Ala) | not specified [RCV004831248] | uncertain significance | 3 | 136152295 | 136152295 | Human | | name |
| 597635751 | CV3554611 | single nucleotide variant | NM_018133.4(MSL2):c.508C>G (p.Pro170Ala) | not specified [RCV004831249] | uncertain significance | 3 | 136152373 | 136152373 | Human | | name |
| 597635881 | CV3554612 | single nucleotide variant | NM_018133.4(MSL2):c.653T>C (p.Ile218Thr) | not specified [RCV004831250] | uncertain significance | 3 | 136152228 | 136152228 | Human | | name |
| 598159854 | CV3897172 | single nucleotide variant | NM_018133.4(MSL2):c.469C>A (p.His157Asn) | not provided [RCV005368146] | uncertain significance | 3 | 136152412 | 136152412 | Human | | name |
| 598180270 | CV3989718 | single nucleotide variant | NM_018133.4(MSL2):c.544C>G (p.Leu182Val) | not specified [RCV005372093] | uncertain significance | 3 | 136152337 | 136152337 | Human | | name |
| 598214338 | CV3989719 | single nucleotide variant | NM_018133.4(MSL2):c.374G>A (p.Cys125Tyr) | not specified [RCV005378547] | uncertain significance | 3 | 136152507 | 136152507 | Human | | name |
| 617148322 | CV4017749 | duplication | NM_018133.4(MSL2):c.1290dup (p.Asp431fs) | Karayol-Borroto-Haghshenas neurodevelopmental syndrome [RCV005417534] | likely pathogenic | 3 | 136151590 | 136151591 | Human | 1 | name |
| 156328449 | CV2216188 | single nucleotide variant | NM_018133.4(MSL2):c.1332G>A (p.Met444Ile) | not specified [RCV004097170] | uncertain significance | 3 | 136151549 | 136151549 | Human | | name |
| 156274617 | CV2279816 | single nucleotide variant | NM_018133.4(MSL2):c.1525A>C (p.Lys509Gln) | not specified [RCV004144423] | uncertain significance | 3 | 136151356 | 136151356 | Human | | name |
| 155901884 | CV2301341 | single nucleotide variant | NM_018133.4(MSL2):c.1165C>T (p.Pro389Ser) | not specified [RCV004160499] | uncertain significance | 3 | 136151716 | 136151716 | Human | | name |
| 156257042 | CV2307850 | single nucleotide variant | NM_018133.4(MSL2):c.1223T>C (p.Met408Thr) | not specified [RCV004170311] | uncertain significance | 3 | 136151658 | 136151658 | Human | | name |
| 156199798 | CV2365397 | single nucleotide variant | NM_018133.4(MSL2):c.1321C>G (p.His441Asp) | not specified [RCV004209478] | uncertain significance | 3 | 136151560 | 136151560 | Human | | name |
| 156389577 | CV2380639 | single nucleotide variant | NM_018133.4(MSL2):c.1228A>G (p.Lys410Glu) | not specified [RCV004218228] | uncertain significance | 3 | 136151653 | 136151653 | Human | | name |
| 401866515 | CV2472774 | single nucleotide variant | NM_018133.4(MSL2):c.1642G>C (p.Val548Leu) | not provided [RCV003331471] | uncertain significance | 3 | 136151239 | 136151239 | Human | | name |
| 401866523 | CV2472775 | single nucleotide variant | NM_018133.4(MSL2):c.1625G>T (p.Ser542Ile) | not provided [RCV003331472] | uncertain significance | 3 | 136151256 | 136151256 | Human | | name |
| 401751150 | CV2696240 | single nucleotide variant | NM_018133.4(MSL2):c.1297G>A (p.Ala433Thr) | not specified [RCV004310585] | likely benign | 3 | 136151584 | 136151584 | Human | | name |
| 401882292 | CV2793437 | single nucleotide variant | NM_018133.4(MSL2):c.1109C>T (p.Ala370Val) | not specified [RCV004362528] | uncertain significance | 3 | 136151772 | 136151772 | Human | | name |
| 405746670 | CV3368596 | single nucleotide variant | NM_018133.4(MSL2):c.1186A>G (p.Lys396Glu) | not specified [RCV004498494] | uncertain significance | 3 | 136151695 | 136151695 | Human | | name |
| 405746677 | CV3368597 | single nucleotide variant | NM_018133.4(MSL2):c.1194C>A (p.Ser398Arg) | not specified [RCV004498495] | uncertain significance | 3 | 136151687 | 136151687 | Human | | name |
| 405746764 | CV3368609 | single nucleotide variant | NM_018133.4(MSL2):c.1637T>C (p.Ile546Thr) | not specified [RCV004498507] | uncertain significance | 3 | 136151244 | 136151244 | Human | | name |
| 407506956 | CV3447265 | single nucleotide variant | NM_018133.4(MSL2):c.1712T>C (p.Ile571Thr) | not specified [RCV004646622] | uncertain significance | 3 | 136151169 | 136151169 | Human | | name |
| 408377176 | CV3501538 | single nucleotide variant | NM_018133.4(MSL2):c.1349A>G (p.Lys450Arg) | not provided [RCV004727596] | uncertain significance | 3 | 136151532 | 136151532 | Human | | name |
| 408381311 | CV3501858 | single nucleotide variant | NM_018133.4(MSL2):c.1057C>T (p.Gln353Ter) | not provided [RCV004729386] | uncertain significance | 3 | 136151824 | 136151824 | Human | | name |
| 408381442 | CV3501897 | single nucleotide variant | NM_018133.4(MSL2):c.1007C>G (p.Ala336Gly) | not provided [RCV004729425] | uncertain significance | 3 | 136151874 | 136151874 | Human | | name |
| 408392586 | CV3528185 | single nucleotide variant | NM_018133.4(MSL2):c.1451A>G (p.Tyr484Cys) | not provided [RCV004775953] | uncertain significance | 3 | 136151430 | 136151430 | Human | | name |
| 596922665 | CV3530037 | single nucleotide variant | NM_018133.4(MSL2):c.1570A>T (p.Arg524Trp) | not provided [RCV004776636] | uncertain significance | 3 | 136151311 | 136151311 | Human | | name |
| 597635741 | CV3554609 | single nucleotide variant | NM_018133.4(MSL2):c.1208T>C (p.Leu403Ser) | not specified [RCV004831247] | uncertain significance | 3 | 136151673 | 136151673 | Human | | name |
| 597635886 | CV3554613 | single nucleotide variant | NM_018133.4(MSL2):c.1480A>G (p.Ile494Val) | not specified [RCV004831251] | uncertain significance | 3 | 136151401 | 136151401 | Human | | name |
| 597883288 | CV3834155 | single nucleotide variant | NM_018133.4(MSL2):c.1479T>A (p.Cys493Ter) | not provided [RCV005178474] | pathogenic | 3 | 136151402 | 136151402 | Human | | name |
| 598128826 | CV3886624 | single nucleotide variant | NM_018133.4(MSL2):c.1619G>A (p.Ser540Asn) | not provided [RCV005244284] | likely benign | 3 | 136151262 | 136151262 | Human | | name |
| 598160255 | CV3897243 | single nucleotide variant | NM_018133.4(MSL2):c.1262C>G (p.Ser421Cys) | not provided [RCV005368217] | uncertain significance | 3 | 136151619 | 136151619 | Human | | name |
| 598214333 | CV3989717 | single nucleotide variant | NM_018133.4(MSL2):c.1120G>A (p.Val374Met) | not specified [RCV005378546] | uncertain significance | 3 | 136151761 | 136151761 | Human | | name |
| 617148321 | CV4017750 | single nucleotide variant | NM_018133.4(MSL2):c.1024C>T (p.Arg342Ter) | Karayol-Borroto-Haghshenas neurodevelopmental syndrome [RCV005417535] | likely pathogenic | 3 | 136151857 | 136151857 | Human | 1 | name |
| 401866831 | CV2748738 | microsatellite | NM_018133.4(MSL2):c.796_797del (p.Leu266fs) | Syndromic neurodevelopmental disorder [RCV003331565]|not provided [RCV005103927] | pathogenic|uncertain significance | 3 | 136152084 | 136152085 | Human | | name |
| 596925706 | CV3530555 | microsatellite | NM_018133.4(MSL2):c.334_335del (p.Gln112fs) | not provided [RCV004778140] | uncertain significance | 3 | 136152546 | 136152547 | Human | | name |
| 14704578 | CV626368 | microsatellite | NM_018133.4(MSL2):c.694_697del (p.Ser232fs) | Autism [RCV000791284]|Karayol-Borroto-Haghshenas neurodevelopmental syndrome [RCV005410917] | pathogenic|likely pathogenic|uncertain significance | 3 | 136152184 | 136152187 | Human | | name |
| 401866830 | CV2748737 | deletion | NM_018133.4(MSL2):c.1047_1050del (p.Ser349fs) | Syndromic neurodevelopmental disorder [RCV003331564]|not provided [RCV004723271] | pathogenic|uncertain significance | 3 | 136151831 | 136151834 | Human | | name |
| 598159460 | CV3897093 | microsatellite | NM_018133.4(MSL2):c.1378_1381del (p.Lys460fs) | not provided [RCV005368067] | likely pathogenic | 3 | 136151500 | 136151503 | Human | | name |
| 598121773 | CV3889804 | insertion | NM_018133.4(MSL2):c.1209_1210insAGTAA (p.Thr405fs) | Karayol-Borroto-Haghshenas neurodevelopmental syndrome [RCV005247907] | likely pathogenic | 3 | 136151671 | 136151672 | Human | 1 | name |
| 617148404 | CV4017019 | microsatellite | NM_018133.4(MSL2):c.1231_1232del (p.Ser411_His412insTer) | Karayol-Borroto-Haghshenas neurodevelopmental syndrome [RCV005416166] | likely pathogenic | 3 | 136151649 | 136151650 | Human | | name |
