| 405290203 | CV3214175 | single nucleotide variant | NM_020859.4(SHROOM3):c.-8T>A | SHROOM3-related disorder [RCV003927007] | benign | 4 | 76436045 | 76436045 | Human | | name , trait , alternate_id |
| 150534711 | CV1311540 | single nucleotide variant | NM_020717.5(SHROOM4):c.4212+1G>A | X-linked intellectual disability, Stocco dos Santos type [RCV001779386] | likely pathogenic | X | 50598265 | 50598265 | Human | 1 | name |
| 155643571 | CV1668085 | single nucleotide variant | NM_020717.5(SHROOM4):c.3942+1G>A | X-linked intellectual disability, Stocco dos Santos type [RCV002287904] | uncertain significance | X | 50602632 | 50602632 | Human | 1 | name |
| 150330861 | CV1169056 | single nucleotide variant | NM_020859.4(SHROOM3):c.168+119C>A | not provided [RCV001536177] | benign | 4 | 76436339 | 76436339 | Human | | name |
| 150333638 | CV1169057 | single nucleotide variant | NM_020859.4(SHROOM3):c.168+155G>T | not provided [RCV001537436] | benign | 4 | 76436375 | 76436375 | Human | | name |
| 150513855 | CV1227934 | single nucleotide variant | NM_020859.4(SHROOM3):c.587+131T>C | not provided [RCV001638212] | benign | 4 | 76731066 | 76731066 | Human | | name |
| 150441754 | CV1233594 | single nucleotide variant | NM_020859.4(SHROOM3):c.4710-44T>C | not provided [RCV001645282] | benign | 4 | 76756405 | 76756405 | Human | | name |
| 150471935 | CV1270175 | single nucleotide variant | NM_020859.4(SHROOM3):c.168+125G>T | not provided [RCV001695463] | benign | 4 | 76436345 | 76436345 | Human | | name |
| 150464253 | CV1276352 | single nucleotide variant | NM_020859.4(SHROOM3):c.168+219T>C | not provided [RCV001710297] | benign | 4 | 76436439 | 76436439 | Human | | name |
| 151351850 | CV1323682 | single nucleotide variant | NM_020717.5(SHROOM4):c.3942+48T>C | X-linked intellectual disability, Stocco dos Santos type [RCV001807591] | benign | X | 50602585 | 50602585 | Human | 1 | name |
| 10404656 | CV209087 | single nucleotide variant | NM_020717.5(SHROOM4):c.2896-17A>G | not specified [RCV000195191] | likely benign | X | 50627692 | 50627692 | Human | | name |
| 405292237 | CV3199780 | single nucleotide variant | NM_001649.4(SHROOM2):c.4311+10T>A | SHROOM2-related disorder [RCV003964411] | benign | X | 9939376 | 9939376 | Human | | name , trait , alternate_id |
| 150433464 | CV1216918 | single nucleotide variant | NM_020859.4(SHROOM3):c.4710-217A>G | not provided [RCV001608820] | benign | 4 | 76756232 | 76756232 | Human | | name |
| 8587856 | CV122491 | single nucleotide variant | NM_001649.2(SHROOM2):c.3587+757G>C | Lung cancer [RCV000103011] | uncertain significance | X | 9933627 | 9933627 | Human | | name |
| 150497082 | CV1236963 | single nucleotide variant | NM_020859.4(SHROOM3):c.5623-172T>C | not provided [RCV001656027] | benign | 4 | 76778637 | 76778637 | Human | | name |
| 150501893 | CV1241068 | single nucleotide variant | NM_020859.4(SHROOM3):c.5198+253C>T | not provided [RCV001656964] | benign | 4 | 76757190 | 76757190 | Human | | name |
| 150494338 | CV1267334 | single nucleotide variant | NM_020859.4(SHROOM3):c.3828-264C>T | not provided [RCV001688362] | benign | 4 | 76754047 | 76754047 | Human | | name |
| 150444715 | CV1278034 | single nucleotide variant | NM_020859.4(SHROOM3):c.3753+183T>C | not provided [RCV001707177] | benign | 4 | 76742109 | 76742109 | Human | | name |
| 8587480 | CV122111 | single nucleotide variant | NM_020717.3(SHROOM4):c.118-22113G>T | Lung cancer [RCV000102631] | uncertain significance | X | 50718050 | 50718050 | Human | | name |
| 150477672 | CV1252048 | single nucleotide variant | NM_020859.4(SHROOM3):c.168+11474G>A | not provided [RCV001672248] | benign | 4 | 76447694 | 76447694 | Human | 12 | name |
| 150477672 | CV1252048 | single nucleotide variant | NM_020859.4(SHROOM3):c.168+11474G>A | not provided [RCV001672248] | benign | 4 | 76447694 | 76447695 | Human | 12 | name |
| 150481578 | CV1279785 | insertion | NM_020859.4(SHROOM3):c.168+118_168+119insT | not provided [RCV001714872] | benign | 4 | 76436338 | 76436339 | Human | | name |
| 150434854 | CV1215995 | insertion | NM_020859.4(SHROOM3):c.168+124_168+125insAAA | not provided [RCV001609184] | benign | 4 | 76436344 | 76436345 | Human | | name |
| 150442009 | CV1264363 | insertion | NM_020859.4(SHROOM3):c.4710-44_4710-43insCTC | not provided [RCV001679346] | benign | 4 | 76756405 | 76756406 | Human | | name |
| 8642881 | CV101865 | single nucleotide variant | NM_020717.5(SHROOM4):c.3168T>C (p.Arg1056=) | SHROOM4-related disorder [RCV003974984]|not provided [RCV004713256]|not specified [RCV000082023] | benign|conflicting interpretations of pathogenicity|conflicting data from submitters | X | 50607974 | 50607974 | Human | | name , trait , alternate_id |
| 8642884 | CV101868 | single nucleotide variant | NM_020717.5(SHROOM4):c.3414A>G (p.Glu1138=) | SHROOM4-related disorder [RCV003974985]|not provided [RCV004713257]|not specified [RCV000082026] | benign | X | 50607728 | 50607728 | Human | | name , trait , alternate_id |
| 150334899 | CV1164243 | single nucleotide variant | NM_020859.4(SHROOM3):c.2905C>T (p.Arg969Trp) | SHROOM3-related disorder [RCV003980653]|not provided [RCV001529945] | likely benign | 4 | 76741078 | 76741078 | Human | | name , trait , alternate_id |
| 150409842 | CV1195966 | single nucleotide variant | NM_020859.4(SHROOM3):c.1691A>C (p.Glu564Ala) | SHROOM3-related disorder [RCV003921236]|not provided [RCV001572814] | likely benign | 4 | 76739864 | 76739864 | Human | | name , trait , alternate_id |
| 150409651 | CV1195967 | single nucleotide variant | NM_020859.4(SHROOM3):c.3035C>A (p.Thr1012Asn) | SHROOM3-related disorder [RCV003910893]|not provided [RCV001572749] | likely benign | 4 | 76741208 | 76741208 | Human | | name , trait , alternate_id |
| 150517202 | CV1226650 | single nucleotide variant | NM_020859.4(SHROOM3):c.440T>A (p.Leu147His) | SHROOM3-related disorder [RCV003980826]|not provided [RCV001639744] | benign | 4 | 76710272 | 76710272 | Human | | name , trait , alternate_id |
| 150470729 | CV1269909 | single nucleotide variant | NM_020859.4(SHROOM3):c.3869C>T (p.Pro1290Leu) | SHROOM3-related disorder [RCV003975999]|not provided [RCV001695196] | benign | 4 | 76754352 | 76754352 | Human | | name , trait , alternate_id |
| 150521292 | CV1289048 | single nucleotide variant | NM_020717.5(SHROOM4):c.2481C>T (p.Asp827=) | SHROOM4-related disorder [RCV003948699]|not provided [RCV001725812] | likely benign | X | 50633592 | 50633592 | Human | | name , trait , alternate_id |
| 152979986 | CV1678330 | single nucleotide variant | NM_020859.4(SHROOM3):c.179G>T (p.Gly60Val) | SHROOM3-related disorder [RCV003903639]|not provided [RCV004716895]|not specified [RCV002246835] | benign|likely benign | 4 | 76555619 | 76555619 | Human | | name , trait , alternate_id |
| 155663905 | CV1852888 | single nucleotide variant | NM_020717.5(SHROOM4):c.2821C>T (p.Pro941Ser) | SHROOM4-related disorder [RCV003971300]|not specified [RCV004062320] | benign | X | 50633252 | 50633252 | Human | | name , trait , alternate_id |
| 10408387 | CV209085 | single nucleotide variant | NM_020717.5(SHROOM4):c.4066G>A (p.Val1356Ile) | SHROOM4-related disorder [RCV003927807]|not provided [RCV000514408]|not specified [RCV000193677] | benign|likely benign|uncertain significance | X | 50598412 | 50598412 | Human | | name , trait , alternate_id |
| 156113524 | CV2349129 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1319C>T (p.Pro440Leu) | SHROOM1-related disorder [RCV003906610]|not specified [RCV004205971] | likely benign|uncertain significance | 5 | 132824342 | 132824342 | Human | | name , trait , alternate_id |
| 329362306 | CV2444585 | single nucleotide variant | NM_020717.5(SHROOM4):c.425G>A (p.Cys142Tyr) | SHROOM4-related disorder [RCV005399288]|not specified [RCV004256808] | likely benign|uncertain significance | X | 50635648 | 50635648 | Human | | name , trait , alternate_id |
| 401936118 | CV2796263 | deletion | NM_020717.5(SHROOM4):c.954_965del (p.Ala319_Pro322del) | SHROOM4-related disorder [RCV003414089] | uncertain significance | X | 50635108 | 50635119 | Human | | name , trait , alternate_id |
| 401913986 | CV2799170 | single nucleotide variant | NM_020717.5(SHROOM4):c.2422G>A (p.Asp808Asn) | SHROOM4-related disorder [RCV003400312] | uncertain significance | X | 50633651 | 50633651 | Human | | name , trait , alternate_id |
| 401914390 | CV2799261 | single nucleotide variant | NM_020717.5(SHROOM4):c.1745G>A (p.Arg582Gln) | SHROOM4-related disorder [RCV003400379] | uncertain significance | X | 50634328 | 50634328 | Human | | name , trait , alternate_id |
| 401934630 | CV2800427 | single nucleotide variant | NM_020717.5(SHROOM4):c.1970G>A (p.Ser657Asn) | SHROOM4-related disorder [RCV003411981] | uncertain significance | X | 50634103 | 50634103 | Human | | name , trait , alternate_id |
| 401933337 | CV2804047 | single nucleotide variant | NM_020717.5(SHROOM4):c.1568C>A (p.Ala523Asp) | SHROOM4-related disorder [RCV003392811]|not specified [RCV004857969] | uncertain significance | X | 50634505 | 50634505 | Human | | name , trait , alternate_id |
| 401901789 | CV2804719 | single nucleotide variant | NM_020859.4(SHROOM3):c.3499C>T (p.Pro1167Ser) | SHROOM3-related disorder [RCV003393224] | uncertain significance | 4 | 76741672 | 76741672 | Human | | name , trait , alternate_id |
| 401923340 | CV2822595 | single nucleotide variant | NM_020859.4(SHROOM3):c.3474C>G (p.Ala1158=) | SHROOM3-related disorder [RCV003929136]|not provided [RCV003435047] | likely benign | 4 | 76741647 | 76741647 | Human | | name , trait , alternate_id |
| 401928209 | CV2822596 | single nucleotide variant | NM_020859.4(SHROOM3):c.3492G>A (p.Gln1164=) | SHROOM3-related disorder [RCV003908944]|not provided [RCV003439354] | likely benign | 4 | 76741665 | 76741665 | Human | | name , trait , alternate_id |
| 401931155 | CV2823830 | single nucleotide variant | NM_001649.4(SHROOM2):c.4152C>T (p.Pro1384=) | SHROOM2-related disorder [RCV003929191]|not provided [RCV003440948] | likely benign | X | 9939207 | 9939207 | Human | | name , trait , alternate_id |
| 405280243 | CV3191699 | single nucleotide variant | NM_001649.4(SHROOM2):c.2859A>G (p.Ala953=) | SHROOM2-related disorder [RCV003919833] | benign | X | 9898258 | 9898258 | Human | | name , trait , alternate_id |
| 405280236 | CV3191738 | single nucleotide variant | NM_020859.4(SHROOM3):c.2442C>T (p.Thr814=) | SHROOM3-related disorder [RCV003919871] | likely benign | 4 | 76740615 | 76740615 | Human | | name , trait , alternate_id |
| 405286702 | CV3192233 | single nucleotide variant | NM_020859.4(SHROOM3):c.4602G>A (p.Pro1534=) | SHROOM3-related disorder [RCV003924135] | likely benign | 4 | 76755085 | 76755085 | Human | | name , trait , alternate_id |
| 405292713 | CV3192590 | single nucleotide variant | NM_001649.4(SHROOM2):c.2458G>A (p.Gly820Arg) | SHROOM2-related disorder [RCV003929839] | benign | X | 9896366 | 9896366 | Human | | name , trait , alternate_id |
| 405276021 | CV3193206 | single nucleotide variant | NM_001649.4(SHROOM2):c.399A>G (p.Pro133=) | SHROOM2-related disorder [RCV003974372] | benign | X | 9891058 | 9891058 | Human | | name , trait , alternate_id |
| 405259237 | CV3194645 | single nucleotide variant | NM_020717.5(SHROOM4):c.2874A>C (p.Lys958Asn) | SHROOM4-related disorder [RCV003894039] | likely benign | X | 50633199 | 50633199 | Human | | name , trait , alternate_id |
| 405265278 | CV3195641 | single nucleotide variant | NM_001649.4(SHROOM2):c.409A>G (p.Thr137Ala) | SHROOM2-related disorder [RCV003897335] | benign | X | 9891068 | 9891068 | Human | | name , trait , alternate_id |
| 405277768 | CV3196133 | single nucleotide variant | NM_020717.5(SHROOM4):c.2867C>G (p.Thr956Ser) | SHROOM4-related disorder [RCV003904650] | likely benign | X | 50633206 | 50633206 | Human | | name , trait , alternate_id |
| 405275327 | CV3196260 | single nucleotide variant | NM_001649.4(SHROOM2):c.3210C>T (p.Arg1070=) | SHROOM2-related disorder [RCV003974129] | likely benign | X | 9932493 | 9932493 | Human | | name , trait , alternate_id |
| 405288323 | CV3197286 | single nucleotide variant | NM_001649.4(SHROOM2):c.222C>T (p.Ile74=) | SHROOM2-related disorder [RCV003982382] | likely benign | X | 9873708 | 9873708 | Human | | name , trait , alternate_id |
| 405277033 | CV3198749 | single nucleotide variant | NM_020859.4(SHROOM3):c.4593T>A (p.Pro1531=) | SHROOM3-related disorder [RCV003904073] | likely benign | 4 | 76755076 | 76755076 | Human | | name , trait , alternate_id |
| 405268379 | CV3198922 | single nucleotide variant | NM_020859.4(SHROOM3):c.2643G>C (p.Pro881=) | SHROOM3-related disorder [RCV003912040] | likely benign | 4 | 76740816 | 76740816 | Human | | name , trait , alternate_id |
| 405272296 | CV3199311 | single nucleotide variant | NM_001649.4(SHROOM2):c.4423A>G (p.Ile1475Val) | SHROOM2-related disorder [RCV003914261] | benign | X | 9944752 | 9944752 | Human | | name , trait , alternate_id |
| 405275821 | CV3199497 | single nucleotide variant | NM_001649.4(SHROOM2):c.1789C>T (p.Arg597Trp) | SHROOM2-related disorder [RCV003916896]|not specified [RCV004858014] | likely benign|uncertain significance | X | 9895697 | 9895697 | Human | | name , trait , alternate_id |
| 405275924 | CV3199505 | single nucleotide variant | NM_001649.4(SHROOM2):c.2794G>T (p.Ala932Ser) | SHROOM2-related disorder [RCV003916904] | benign | X | 9898193 | 9898193 | Human | | name , trait , alternate_id |
| 405283866 | CV3199732 | single nucleotide variant | NM_020859.4(SHROOM3):c.3160G>T (p.Val1054Leu) | SHROOM3-related disorder [RCV003979389] | benign | 4 | 76741333 | 76741333 | Human | | name , trait , alternate_id |
| 405266330 | CV3201910 | single nucleotide variant | NM_001649.4(SHROOM2):c.1827G>A (p.Pro609=) | SHROOM2-related disorder [RCV003911399] | likely benign | X | 9895735 | 9895735 | Human | | name , trait , alternate_id |
| 405266740 | CV3202078 | single nucleotide variant | NM_020717.5(SHROOM4):c.2750T>G (p.Met917Arg) | SHROOM4-related disorder [RCV003911559] | uncertain significance | X | 50633323 | 50633323 | Human | | name , trait , alternate_id |
| 405285154 | CV3202472 | single nucleotide variant | NM_001649.4(SHROOM2):c.3657C>A (p.Ser1219Arg) | SHROOM2-related disorder [RCV003909735] | likely benign | X | 9937203 | 9937203 | Human | | name , trait , alternate_id |
| 405294178 | CV3203498 | single nucleotide variant | NM_001649.4(SHROOM2):c.3948G>A (p.Ser1316=) | SHROOM2-related disorder [RCV003934027] | likely benign | X | 9937494 | 9937494 | Human | | name , trait , alternate_id |
| 405260910 | CV3204384 | single nucleotide variant | NM_001649.4(SHROOM2):c.2569G>A (p.Ala857Thr) | SHROOM2-related disorder [RCV003944210] | likely benign | X | 9896477 | 9896477 | Human | | name , trait , alternate_id |
| 405275142 | CV3204660 | single nucleotide variant | NM_020859.4(SHROOM3):c.1101T>G (p.Ser367Arg) | SHROOM3-related disorder [RCV003952062] | likely benign | 4 | 76739274 | 76739274 | Human | | name , trait , alternate_id |
| 405291552 | CV3205844 | single nucleotide variant | NM_020717.5(SHROOM4):c.4110G>A (p.Gly1370=) | SHROOM4-related disorder [RCV003963966] | likely benign | X | 50598368 | 50598368 | Human | | name , trait , alternate_id |
| 405291623 | CV3205879 | single nucleotide variant | NM_020859.4(SHROOM3):c.1263C>T (p.Gly421=) | SHROOM3-related disorder [RCV003963996] | likely benign | 4 | 76739436 | 76739436 | Human | | name , trait , alternate_id |
| 405291651 | CV3205970 | single nucleotide variant | NM_020717.5(SHROOM4):c.2339G>A (p.Ser780Asn) | SHROOM4-related disorder [RCV003964070] | likely benign | X | 50633734 | 50633734 | Human | | name , trait , alternate_id |
| 405285688 | CV3206488 | single nucleotide variant | NM_020859.4(SHROOM3):c.2799C>T (p.Ser933=) | SHROOM3-related disorder [RCV003981204] | benign | 4 | 76740972 | 76740972 | Human | | name , trait , alternate_id |
| 405285652 | CV3206524 | single nucleotide variant | NM_020859.4(SHROOM3):c.316G>C (p.Val106Leu) | SHROOM3-related disorder [RCV003981231] | likely benign | 4 | 76555756 | 76555756 | Human | | name , trait , alternate_id |
| 405285669 | CV3206587 | single nucleotide variant | NM_001649.4(SHROOM2):c.783G>A (p.Ser261=) | SHROOM2-related disorder [RCV003981273] | benign | X | 9894691 | 9894691 | Human | | name , trait , alternate_id |
| 405276374 | CV3206671 | single nucleotide variant | NM_001649.4(SHROOM2):c.1318G>A (p.Ala440Thr) | SHROOM2-related disorder [RCV003917111] | likely benign | X | 9895226 | 9895226 | Human | | name , trait , alternate_id |
| 405292936 | CV3207051 | single nucleotide variant | NM_001649.4(SHROOM2):c.2693C>T (p.Ala898Val) | SHROOM2-related disorder [RCV003931465] | benign | X | 9896601 | 9896601 | Human | | name , trait , alternate_id |
| 405293163 | CV3207246 | single nucleotide variant | NM_020859.4(SHROOM3):c.1413T>G (p.Pro471=) | SHROOM3-related disorder [RCV003931644] | likely benign | 4 | 76739586 | 76739586 | Human | | name , trait , alternate_id |
| 405293392 | CV3207389 | single nucleotide variant | NM_001649.4(SHROOM2):c.1639G>A (p.Ala547Thr) | SHROOM2-related disorder [RCV003931771] | benign | X | 9895547 | 9895547 | Human | | name , trait , alternate_id |
| 405290636 | CV3207531 | single nucleotide variant | NM_020859.4(SHROOM3):c.4581C>T (p.Pro1527=) | SHROOM3-related disorder [RCV003927108] | likely benign | 4 | 76755064 | 76755064 | Human | | name , trait , alternate_id |
| 405292164 | CV3207884 | single nucleotide variant | NM_020859.4(SHROOM3):c.3393C>T (p.Ser1131=) | SHROOM3-related disorder [RCV003929558] | benign | 4 | 76741566 | 76741566 | Human | | name , trait , alternate_id |
| 405257911 | CV3207953 | single nucleotide variant | NM_001649.4(SHROOM2):c.960T>A (p.Pro320=) | SHROOM2-related disorder [RCV003941422] | likely benign | X | 9894868 | 9894868 | Human | | name , trait , alternate_id |
| 405258089 | CV3208169 | single nucleotide variant | NM_020859.4(SHROOM3):c.2928C>T (p.Ser976=) | SHROOM3-related disorder [RCV003941610] | likely benign | 4 | 76741101 | 76741101 | Human | | name , trait , alternate_id |
| 405258125 | CV3208209 | single nucleotide variant | NM_020859.4(SHROOM3):c.4596T>A (p.Pro1532=) | SHROOM3-related disorder [RCV003941647] | likely benign | 4 | 76755079 | 76755079 | Human | | name , trait , alternate_id |
| 405258150 | CV3208238 | single nucleotide variant | NM_020859.4(SHROOM3):c.2262C>T (p.Ser754=) | SHROOM3-related disorder [RCV003941673] | likely benign | 4 | 76740435 | 76740435 | Human | | name , trait , alternate_id |
| 405256162 | CV3208668 | single nucleotide variant | NM_001649.4(SHROOM2):c.1426G>C (p.Gly476Arg) | SHROOM2-related disorder [RCV003939730] | benign | X | 9895334 | 9895334 | Human | | name , trait , alternate_id |
| 405274537 | CV3208909 | single nucleotide variant | NM_020859.4(SHROOM3):c.3525C>T (p.Ala1175=) | SHROOM3-related disorder [RCV003951696] | likely benign | 4 | 76741698 | 76741698 | Human | | name , trait , alternate_id |
| 405271565 | CV3209486 | single nucleotide variant | NM_001649.4(SHROOM2):c.3991G>T (p.Ala1331Ser) | SHROOM2-related disorder [RCV003949801] | likely benign | X | 9937537 | 9937537 | Human | | name , trait , alternate_id |
| 405288740 | CV3209878 | single nucleotide variant | NM_001649.4(SHROOM2):c.2453T>C (p.Leu818Pro) | SHROOM2-related disorder [RCV003961377]|not specified [RCV004674006] | likely benign|uncertain significance | X | 9896361 | 9896361 | Human | | name , trait , alternate_id |
| 405273214 | CV3210354 | single nucleotide variant | NM_001649.4(SHROOM2):c.3489G>A (p.Thr1163=) | SHROOM2-related disorder [RCV003914579] | benign | X | 9932772 | 9932772 | Human | | name , trait , alternate_id |
| 405277217 | CV3210564 | single nucleotide variant | NM_001649.4(SHROOM2):c.2889G>A (p.Pro963=) | SHROOM2-related disorder [RCV003917386] | benign | X | 9898288 | 9898288 | Human | | name , trait , alternate_id |
| 405287685 | CV3210703 | single nucleotide variant | NM_001649.4(SHROOM2):c.483G>A (p.Glu161=) | SHROOM2-related disorder [RCV003924463] | benign | X | 9894391 | 9894391 | Human | | name , trait , alternate_id |
| 405255740 | CV3210847 | single nucleotide variant | NM_001649.4(SHROOM2):c.4383C>T (p.Asp1461=) | SHROOM2-related disorder [RCV003939353] | benign | X | 9944712 | 9944712 | Human | | name , trait , alternate_id |
| 405262176 | CV3212832 | single nucleotide variant | NM_001649.4(SHROOM2):c.4464C>T (p.Phe1488=) | SHROOM2-related disorder [RCV003944742] | likely benign | X | 9944793 | 9944793 | Human | | name , trait , alternate_id |
| 405266373 | CV3213084 | single nucleotide variant | NM_020717.5(SHROOM4):c.2173C>T (p.His725Tyr) | SHROOM4-related disorder [RCV003969248] | likely benign | X | 50633900 | 50633900 | Human | | name , trait , alternate_id |
| 405284035 | CV3213493 | single nucleotide variant | NM_020859.4(SHROOM3):c.556G>C (p.Gly186Arg) | SHROOM3-related disorder [RCV003922074] | benign | 4 | 76730904 | 76730904 | Human | | name , trait , alternate_id |
| 405284308 | CV3213649 | single nucleotide variant | NM_001649.4(SHROOM2):c.4662C>T (p.Arg1554=) | SHROOM2-related disorder [RCV003922219] | likely benign | X | 9946748 | 9946748 | Human | | name , trait , alternate_id |
| 405286982 | CV3213845 | single nucleotide variant | NM_001649.4(SHROOM2):c.1549C>T (p.Arg517Cys) | SHROOM2-related disorder [RCV003924241] | benign | X | 9895457 | 9895457 | Human | | name , trait , alternate_id |
| 405289827 | CV3213948 | single nucleotide variant | NM_020717.5(SHROOM4):c.1387C>A (p.Pro463Thr) | SHROOM4-related disorder [RCV003926801] | benign | X | 50634686 | 50634686 | Human | | name , trait , alternate_id |
| 405290031 | CV3214079 | single nucleotide variant | NM_020859.4(SHROOM3):c.2868C>T (p.Ser956=) | SHROOM3-related disorder [RCV003926920] | likely benign | 4 | 76741041 | 76741041 | Human | | name , trait , alternate_id |
| 405293550 | CV3214279 | single nucleotide variant | NM_020717.5(SHROOM4):c.2416C>T (p.Pro806Ser) | SHROOM4-related disorder [RCV003931980] | benign | X | 50633657 | 50633657 | Human | | name , trait , alternate_id |
| 405293608 | CV3214350 | single nucleotide variant | NM_020717.5(SHROOM4):c.689G>A (p.Arg230Gln) | SHROOM4-related disorder [RCV003932042] | benign | X | 50635384 | 50635384 | Human | | name , trait , alternate_id |
| 405294712 | CV3215518 | single nucleotide variant | NM_020859.4(SHROOM3):c.2103A>G (p.Ala701=) | SHROOM3-related disorder [RCV003934594] | likely benign | 4 | 76740276 | 76740276 | Human | | name , trait , alternate_id |
| 405260959 | CV3215555 | single nucleotide variant | NM_001649.4(SHROOM2):c.3237C>T (p.Asp1079=) | SHROOM2-related disorder [RCV003944286] | likely benign | X | 9932520 | 9932520 | Human | | name , trait , alternate_id |
| 405265633 | CV3215610 | single nucleotide variant | NM_001649.4(SHROOM2):c.4163C>T (p.Ala1388Val) | SHROOM2-related disorder [RCV003946793] | likely benign | X | 9939218 | 9939218 | Human | | name , trait , alternate_id |
| 405282183 | CV3216287 | single nucleotide variant | NM_020717.5(SHROOM4):c.2502C>T (p.Asp834=) | SHROOM4-related disorder [RCV003956797] | benign | X | 50633571 | 50633571 | Human | | name , trait , alternate_id |
| 405278523 | CV3216557 | single nucleotide variant | NM_020859.4(SHROOM3):c.619C>T (p.His207Tyr) | SHROOM3-related disorder [RCV003954469] | benign | 4 | 76738792 | 76738792 | Human | | name , trait , alternate_id |
| 405283260 | CV3216999 | single nucleotide variant | NM_001649.4(SHROOM2):c.1164A>G (p.Pro388=) | SHROOM2-related disorder [RCV003979146] | benign | X | 9895072 | 9895072 | Human | | name , trait , alternate_id |
| 405287597 | CV3217860 | single nucleotide variant | NM_001649.4(SHROOM2):c.4821G>C (p.Leu1607Phe) | SHROOM2-related disorder [RCV003981983] | benign | X | 9946907 | 9946907 | Human | | name , trait , alternate_id |
| 405283320 | CV3218515 | single nucleotide variant | NM_020859.4(SHROOM3):c.3870G>A (p.Pro1290=) | SHROOM3-related disorder [RCV003957304] | benign | 4 | 76754353 | 76754353 | Human | | name , trait , alternate_id |
| 405270949 | CV3218786 | single nucleotide variant | NM_001649.4(SHROOM2):c.2453T>G (p.Leu818Arg) | SHROOM2-related disorder [RCV003971553]|not provided [RCV004703359] | likely benign | X | 9896361 | 9896361 | Human | | name , trait , alternate_id |
| 405271558 | CV3219137 | single nucleotide variant | NM_001649.4(SHROOM2):c.2694G>A (p.Ala898=) | SHROOM2-related disorder [RCV003971831] | likely benign | X | 9896602 | 9896602 | Human | | name , trait , alternate_id |
| 405278600 | CV3220343 | single nucleotide variant | NM_001649.4(SHROOM2):c.3756A>G (p.Thr1252=) | SHROOM2-related disorder [RCV003976570] | benign | X | 9937302 | 9937302 | Human | | name , trait , alternate_id |
| 405272979 | CV3220449 | single nucleotide variant | NM_001649.4(SHROOM2):c.3854G>T (p.Gly1285Val) | SHROOM2-related disorder [RCV003972267] | benign | X | 9937400 | 9937400 | Human | | name , trait , alternate_id |
| 405279022 | CV3220539 | single nucleotide variant | NM_001649.4(SHROOM2):c.2826C>A (p.Asp942Glu) | SHROOM2-related disorder [RCV003976718] | benign | X | 9898225 | 9898225 | Human | | name , trait , alternate_id |
| 405265609 | CV3220775 | single nucleotide variant | NM_020717.5(SHROOM4):c.3034T>C (p.Leu1012=) | SHROOM4-related disorder [RCV003968956] | likely benign | X | 50608108 | 50608108 | Human | | name , trait , alternate_id |
| 405266020 | CV3220992 | single nucleotide variant | NM_001649.4(SHROOM2):c.1985G>A (p.Arg662His) | SHROOM2-related disorder [RCV003969135]|not specified [RCV005281524] | likely benign|uncertain significance | X | 9895893 | 9895893 | Human | | name , trait , alternate_id |
| 405289642 | CV3221000 | single nucleotide variant | NM_020859.4(SHROOM3):c.697C>A (p.Pro233Thr) | SHROOM3-related disorder [RCV003961880] | likely benign | 4 | 76738870 | 76738870 | Human | | name , trait , alternate_id |
| 405293052 | CV3221235 | single nucleotide variant | NM_001649.4(SHROOM2):c.2573C>G (p.Ala858Gly) | SHROOM2-related disorder [RCV003966769] | benign | X | 9896481 | 9896481 | Human | | name , trait , alternate_id |
| 405272402 | CV3221638 | single nucleotide variant | NM_001649.4(SHROOM2):c.411C>T (p.Thr137=) | SHROOM2-related disorder [RCV003972130] | benign | X | 9891070 | 9891070 | Human | | name , trait , alternate_id |
| 405278213 | CV3221743 | single nucleotide variant | NM_001649.4(SHROOM2):c.2535C>T (p.Thr845=) | SHROOM2-related disorder [RCV003976329] | likely benign | X | 9896443 | 9896443 | Human | | name , trait , alternate_id |
| 408374999 | CV3509193 | single nucleotide variant | NM_020717.5(SHROOM4):c.83G>T (p.Gly28Val) | SHROOM4-related disorder [RCV004747695] | uncertain significance | X | 50813936 | 50813936 | Human | | name , trait , alternate_id |
| 408375093 | CV3509561 | single nucleotide variant | NM_020717.5(SHROOM4):c.3276C>T (p.Leu1092=) | SHROOM4-related disorder [RCV004747738] | likely benign | X | 50607866 | 50607866 | Human | | name , trait , alternate_id |
| 408367363 | CV3511386 | single nucleotide variant | NM_001649.4(SHROOM2):c.3342C>T (p.Ser1114=) | SHROOM2-related disorder [RCV004758407] | likely benign | X | 9932625 | 9932625 | Human | | name , trait , alternate_id |
| 408366592 | CV3511916 | single nucleotide variant | NM_020859.4(SHROOM3):c.1119G>A (p.Thr373=) | SHROOM3-related disorder [RCV004756810] | likely benign | 4 | 76739292 | 76739292 | Human | | name , trait , alternate_id |
| 408367530 | CV3517763 | single nucleotide variant | NM_001649.4(SHROOM2):c.1590C>T (p.Arg530=) | SHROOM2-related disorder [RCV004758582] | likely benign | X | 9895498 | 9895498 | Human | | name , trait , alternate_id |
| 12896978 | CV389601 | single nucleotide variant | NM_020859.4(SHROOM3):c.1405C>G (p.Pro469Ala) | SHROOM3-related disorder [RCV003972741]|not provided [RCV001613287]|not specified [RCV000456076] | benign | 4 | 76739578 | 76739578 | Human | | name , trait , alternate_id |
| 12896206 | CV389602 | single nucleotide variant | NM_020859.4(SHROOM3):c.2922G>A (p.Ser974=) | SHROOM3-related disorder [RCV003972742]|not provided [RCV001643159]|not specified [RCV000455034] | benign | 4 | 76741095 | 76741095 | Human | | name , trait , alternate_id |
| 12896927 | CV389617 | single nucleotide variant | NM_020859.4(SHROOM3):c.4289G>A (p.Arg1430Gln) | SHROOM3-related disorder [RCV003983075]|not provided [RCV004716500]|not specified [RCV000456005] | benign | 4 | 76754772 | 76754772 | Human | | name , trait , alternate_id |
| 12895996 | CV389671 | single nucleotide variant | NM_020859.4(SHROOM3):c.836G>C (p.Gly279Ala) | SHROOM3-related disorder [RCV003983073]|not provided [RCV001683503]|not specified [RCV000454736] | benign | 4 | 76739009 | 76739009 | Human | | name , trait , alternate_id |
| 12896504 | CV389672 | single nucleotide variant | NM_020859.4(SHROOM3):c.973T>G (p.Ser325Ala) | SHROOM3-related disorder [RCV003972740]|not provided [RCV004717620]|not specified [RCV000455435] | benign | 4 | 76739146 | 76739146 | Human | | name , trait , alternate_id |
| 12896685 | CV389675 | single nucleotide variant | NM_020859.4(SHROOM3):c.2983C>T (p.Leu995=) | SHROOM3-related disorder [RCV003983074]|not provided [RCV001598671]|not specified [RCV000455682] | benign | 4 | 76741156 | 76741156 | Human | | name , trait , alternate_id |
| 598177623 | CV4008322 | single nucleotide variant | NM_020717.5(SHROOM4):c.1935A>T (p.Lys645Asn) | SHROOM4-related disorder [RCV005393840] | likely benign | X | 50634138 | 50634138 | Human | | name , trait , alternate_id |
| 598177630 | CV4008323 | single nucleotide variant | NM_020717.5(SHROOM4):c.3047G>C (p.Arg1016Pro) | SHROOM4-related disorder [RCV005393841] | uncertain significance | X | 50608095 | 50608095 | Human | | name , trait , alternate_id |
| 12892623 | CV404640 | single nucleotide variant | NM_020717.5(SHROOM4):c.436C>T (p.Arg146Trp) | SHROOM4-related disorder [RCV003932775]|X-linked intellectual disability, Stocco dos Santos type [RCV000477701]|not provided [RCV000514889] | pathogenic|likely benign|uncertain significance | X | 50635637 | 50635637 | Human | 1 | name , trait , alternate_id |
| 13528189 | CV508962 | single nucleotide variant | NM_020717.5(SHROOM4):c.2165G>A (p.Arg722His) | SHROOM4-related disorder [RCV003932039] | benign|likely benign | X | 50633908 | 50633908 | Human | | name , trait , alternate_id |
| 13830835 | CV580800 | microsatellite | NM_020717.5(SHROOM4):c.3393GGA[6] (p.Glu1151del) | SHROOM4-related disorder [RCV003980356]|not provided [RCV004808867]|not specified [RCV004026921] | benign|likely benign | X | 50607729 | 50607731 | Human | | name , trait , alternate_id |
| 15183658 | CV698634 | single nucleotide variant | NM_020859.4(SHROOM3):c.4673A>C (p.Gln1558Pro) | SHROOM3-related disorder [RCV003915800]|not provided [RCV000952516] | benign|likely benign | 4 | 76755156 | 76755156 | Human | | name , trait , alternate_id |
| 15156934 | CV698635 | single nucleotide variant | NM_020859.4(SHROOM3):c.5914A>G (p.Asn1972Asp) | SHROOM3-related disorder [RCV003925871]|not provided [RCV000946792] | benign | 4 | 76779100 | 76779100 | Human | | name , trait , alternate_id |
| 15104588 | CV706339 | single nucleotide variant | NM_001649.4(SHROOM2):c.2195T>A (p.Leu732Gln) | SHROOM2-related disorder [RCV003916008]|not provided [RCV000959716] | benign | X | 9896103 | 9896103 | Human | | name , trait , alternate_id |
| 15203252 | CV706340 | single nucleotide variant | NM_001649.4(SHROOM2):c.3774G>C (p.Ser1258=) | SHROOM2-related disorder [RCV003915969]|not provided [RCV000958309] | benign | X | 9937320 | 9937320 | Human | | name , trait , alternate_id |
| 15144976 | CV709464 | single nucleotide variant | NM_020859.4(SHROOM3):c.216T>C (p.Ala72=) | SHROOM3-related disorder [RCV003972861]|not provided [RCV000966919] | benign | 4 | 76555656 | 76555656 | Human | | name , trait , alternate_id |
| 15174476 | CV709465 | single nucleotide variant | NM_020859.4(SHROOM3):c.1224T>C (p.Asp408=) | SHROOM3-related disorder [RCV003936150]|not provided [RCV000972723] | benign | 4 | 76739397 | 76739397 | Human | | name , trait , alternate_id |
| 15136841 | CV717882 | single nucleotide variant | NM_001649.4(SHROOM2):c.2495C>T (p.Ala832Val) | SHROOM2-related disorder [RCV003926260]|not provided [RCV000965516] | benign | X | 9896403 | 9896403 | Human | | name , trait , alternate_id |
| 15155830 | CV721071 | single nucleotide variant | NM_020859.4(SHROOM3):c.4519G>A (p.Glu1507Lys) | SHROOM3-related disorder [RCV003930514]|not provided [RCV000880497] | likely benign | 4 | 76755002 | 76755002 | Human | | name , trait , alternate_id |
| 15112842 | CV721072 | single nucleotide variant | NM_020859.4(SHROOM3):c.4754T>A (p.Met1585Lys) | SHROOM3-related disorder [RCV003922831]|not provided [RCV000894546] | benign|likely benign | 4 | 76756493 | 76756493 | Human | | name , trait , alternate_id |
| 15192730 | CV734716 | single nucleotide variant | NM_020859.4(SHROOM3):c.1839G>A (p.Ala613=) | SHROOM3-related disorder [RCV003923141]|not provided [RCV000910629] | benign | 4 | 76740012 | 76740012 | Human | | name , trait , alternate_id |
| 15192734 | CV734717 | single nucleotide variant | NM_020859.4(SHROOM3):c.3160G>A (p.Val1054Met) | SHROOM3-related disorder [RCV003923142]|not provided [RCV000910630] | benign | 4 | 76741333 | 76741333 | Human | | name , trait , alternate_id |
| 15170072 | CV734718 | single nucleotide variant | NM_020859.4(SHROOM3):c.4441A>C (p.Thr1481Pro) | SHROOM3-related disorder [RCV003958213]|not provided [RCV000905193] | benign | 4 | 76754924 | 76754924 | Human | | name , trait , alternate_id |
| 15170077 | CV734719 | single nucleotide variant | NM_020859.4(SHROOM3):c.4494G>A (p.Pro1498=) | SHROOM3-related disorder [RCV003958214]|not provided [RCV000905194] | benign | 4 | 76754977 | 76754977 | Human | | name , trait , alternate_id |
| 15140375 | CV734720 | single nucleotide variant | NM_020859.4(SHROOM3):c.4602G>T (p.Pro1534=) | SHROOM3-related disorder [RCV003940830]|not provided [RCV000899308] | benign | 4 | 76755085 | 76755085 | Human | | name , trait , alternate_id |
| 21070718 | CV798330 | single nucleotide variant | NM_020717.5(SHROOM4):c.3626C>T (p.Ala1209Val) | SHROOM4-related disorder [RCV003918635]|not provided [RCV000999432] | likely benign|uncertain significance | X | 50607516 | 50607516 | Human | | name , trait , alternate_id |
| 8660691 | CV135761 | single nucleotide variant | NM_020717.5(SHROOM4):c.96T>C (p.Cys32=) | not provided [RCV004703389]|not specified [RCV000118352] | benign|likely benign | X | 50813923 | 50813923 | Human | | name |
| 152103916 | CV1667544 | single nucleotide variant | NM_020717.5(SHROOM4):c.66C>T (p.Gly22=) | not provided [RCV002214532] | likely benign | X | 50813953 | 50813953 | Human | | name |
| 21070732 | CV798333 | single nucleotide variant | NM_020717.5(SHROOM4):c.39G>A (p.Val13=) | not provided [RCV000999436] | uncertain significance | X | 50813980 | 50813980 | Human | | name |
| 156088400 | CV2295508 | single nucleotide variant | NM_001649.4(SHROOM2):c.17C>T (p.Pro6Leu) | not specified [RCV004160614] | uncertain significance | X | 9786562 | 9786562 | Human | | name |
| 405733309 | CV3311268 | single nucleotide variant | NM_020859.4(SHROOM3):c.11C>A (p.Thr4Asn) | not specified [RCV004451310] | uncertain significance | 4 | 76436063 | 76436063 | Human | | name |
| 407519210 | CV3480597 | single nucleotide variant | NM_001649.4(SHROOM2):c.10G>A (p.Ala4Thr) | not specified [RCV004676393] | uncertain significance | X | 9786555 | 9786555 | Human | | name |
| 151354108 | CV1327660 | single nucleotide variant | NM_020717.5(SHROOM4):c.747C>T (p.Thr249=) | not specified [RCV001817604] | likely benign | X | 50635326 | 50635326 | Human | | name |
| 156037440 | CV2218599 | single nucleotide variant | NM_001649.4(SHROOM2):c.73C>A (p.Arg25Ser) | not specified [RCV004090860] | uncertain significance | X | 9786618 | 9786618 | Human | | name |
| 156283926 | CV2249801 | single nucleotide variant | NM_020859.4(SHROOM3):c.74A>G (p.Tyr25Cys) | not specified [RCV004122562] | uncertain significance | 4 | 76436126 | 76436126 | Human | | name |
| 156157953 | CV2322613 | single nucleotide variant | NM_020859.4(SHROOM3):c.68G>A (p.Gly23Glu) | not specified [RCV004182752] | uncertain significance | 4 | 76436120 | 76436120 | Human | | name |
| 329398145 | CV2464812 | single nucleotide variant | NM_020717.5(SHROOM4):c.64G>A (p.Gly22Ser) | not specified [RCV004284761] | uncertain significance | X | 50813955 | 50813955 | Human | | name |
| 401751837 | CV2702921 | single nucleotide variant | NM_020859.4(SHROOM3):c.88G>A (p.Ala30Thr) | not specified [RCV004321251] | uncertain significance | 4 | 76436140 | 76436140 | Human | | name |
| 401931162 | CV2823824 | single nucleotide variant | NM_001649.4(SHROOM2):c.390G>A (p.Ala130=) | not provided [RCV003440942] | likely benign | X | 9891049 | 9891049 | Human | | name |
| 596920625 | CV3534075 | single nucleotide variant | NM_020717.5(SHROOM4):c.582G>T (p.Ser194=) | not specified [RCV004783293] | likely benign | X | 50635491 | 50635491 | Human | | name |
| 597719726 | CV3598964 | single nucleotide variant | NM_020859.4(SHROOM3):c.59C>A (p.Ala20Asp) | not specified [RCV004861907] | uncertain significance | 4 | 76436111 | 76436111 | Human | | name |
| 597720039 | CV3598996 | single nucleotide variant | NM_020717.5(SHROOM4):c.76A>G (p.Lys26Glu) | not specified [RCV004861939] | uncertain significance | X | 50813943 | 50813943 | Human | | name |
| 598242428 | CV3914330 | single nucleotide variant | NM_020859.4(SHROOM3):c.56C>T (p.Thr19Met) | not specified [RCV005276527] | uncertain significance | 4 | 76436108 | 76436108 | Human | | name |
| 13213636 | CV430829 | single nucleotide variant | NM_020717.5(SHROOM4):c.316C>T (p.Leu106=) | not specified [RCV000500258] | uncertain significance | X | 50638262 | 50638262 | Human | | name |
| 13214065 | CV430830 | single nucleotide variant | NM_020717.5(SHROOM4):c.30C>G (p.Tyr10Ter) | not specified [RCV000500798] | likely benign|conflicting interpretations of pathogenicity | X | 50813989 | 50813989 | Human | | name |
| 150516740 | CV1287511 | single nucleotide variant | NM_020859.4(SHROOM3):c.2266C>T (p.Leu756=) | not provided [RCV001723488] | likely benign | 4 | 76740439 | 76740439 | Human | | name |
| 152999693 | CV1683264 | single nucleotide variant | NM_020717.5(SHROOM4):c.2631T>C (p.Cys877=) | See cases [RCV002252448] | uncertain significance | X | 50633442 | 50633442 | Human | | name |
| 153346260 | CV1691044 | single nucleotide variant | NM_020717.5(SHROOM4):c.239C>T (p.Ser80Phe) | not specified [RCV002271945] | uncertain significance | X | 50695816 | 50695816 | Human | | name |
| 10408458 | CV209089 | single nucleotide variant | NM_020717.5(SHROOM4):c.266G>A (p.Arg89Lys) | not provided [RCV001572841]|not specified [RCV000194219] | benign|likely benign | X | 50695789 | 50695789 | Human | | name |
| 10408324 | CV209090 | single nucleotide variant | NM_020717.5(SHROOM4):c.245G>A (p.Arg82Gln) | not specified [RCV000193182] | uncertain significance | X | 50695810 | 50695810 | Human | | name |
| 156186256 | CV2236169 | single nucleotide variant | NM_001649.4(SHROOM2):c.188C>T (p.Ala63Val) | not specified [RCV004107882] | uncertain significance | X | 9873674 | 9873674 | Human | | name |
| 156199921 | CV2237629 | single nucleotide variant | NM_020717.5(SHROOM4):c.277G>A (p.Ala93Thr) | not specified [RCV004106560] | uncertain significance | X | 50638301 | 50638301 | Human | | name |
| 156188543 | CV2292553 | single nucleotide variant | NM_020717.5(SHROOM4):c.287G>A (p.Ser96Asn) | not specified [RCV004150324] | uncertain significance | X | 50638291 | 50638291 | Human | | name |
| 156256629 | CV2322001 | single nucleotide variant | NM_020859.4(SHROOM3):c.196C>G (p.Leu66Val) | not specified [RCV004173758] | likely benign | 4 | 76555636 | 76555636 | Human | | name |
| 401728352 | CV2686021 | single nucleotide variant | NM_001649.4(SHROOM2):c.164A>G (p.Lys55Arg) | not specified [RCV004297036] | uncertain significance | X | 9786709 | 9786709 | Human | | name |
| 401860675 | CV2758571 | single nucleotide variant | NM_020717.5(SHROOM4):c.293C>T (p.Pro98Leu) | not specified [RCV004337658] | uncertain significance | X | 50638285 | 50638285 | Human | | name |
| 401931160 | CV2823826 | single nucleotide variant | NM_001649.4(SHROOM2):c.2379G>A (p.Thr793=) | not provided [RCV003440944] | likely benign | X | 9896287 | 9896287 | Human | | name |
| 405267033 | CV3186755 | single nucleotide variant | NM_020717.5(SHROOM4):c.1686G>A (p.Glu562=) | not provided [RCV003886836] | likely benign | X | 50634387 | 50634387 | Human | | name |
| 405733183 | CV3311251 | single nucleotide variant | NM_001649.4(SHROOM2):c.266C>T (p.Ala89Val) | not specified [RCV004451293] | uncertain significance | X | 9873752 | 9873752 | Human | | name |
| 405748508 | CV3311311 | single nucleotide variant | NM_020717.5(SHROOM4):c.181A>G (p.Ile61Val) | not specified [RCV004453423] | uncertain significance | X | 50695874 | 50695874 | Human | | name |
| 405748517 | CV3311312 | single nucleotide variant | NM_020717.5(SHROOM4):c.211C>A (p.Gln71Lys) | not specified [RCV004453424] | uncertain significance | X | 50695844 | 50695844 | Human | | name |
| 405748560 | CV3311318 | single nucleotide variant | NM_020717.5(SHROOM4):c.283G>C (p.Val95Leu) | not specified [RCV004453430] | uncertain significance | X | 50638295 | 50638295 | Human | | name |
| 597719262 | CV3598912 | single nucleotide variant | NM_001649.4(SHROOM2):c.233A>G (p.Asn78Ser) | not specified [RCV004861855] | uncertain significance | X | 9873719 | 9873719 | Human | | name |
| 597719376 | CV3598925 | single nucleotide variant | NM_001649.4(SHROOM2):c.100G>T (p.Gly34Cys) | not specified [RCV004861868] | uncertain significance | X | 9786645 | 9786645 | Human | | name |
| 597719644 | CV3598955 | single nucleotide variant | NM_020859.4(SHROOM3):c.233A>C (p.His78Pro) | not specified [RCV004861898] | uncertain significance | 4 | 76555673 | 76555673 | Human | | name |
| 598256554 | CV3914363 | single nucleotide variant | NM_020717.5(SHROOM4):c.242T>C (p.Phe81Ser) | not specified [RCV005279034] | uncertain significance | X | 50695813 | 50695813 | Human | | name |
| 15163715 | CV706265 | single nucleotide variant | NM_020717.5(SHROOM4):c.2172T>G (p.Gly724=) | not provided [RCV000948156] | likely benign | X | 50633901 | 50633901 | Human | | name |
| 15184137 | CV709466 | single nucleotide variant | NM_020859.4(SHROOM3):c.2295C>T (p.Ser765=) | not provided [RCV000975040] | benign | 4 | 76740468 | 76740468 | Human | | name |
| 15104181 | CV764613 | single nucleotide variant | NM_020859.4(SHROOM3):c.1368C>G (p.Ala456=) | not provided [RCV000937337] | likely benign | 4 | 76739541 | 76739541 | Human | | name |
| 15129871 | CV782033 | single nucleotide variant | NM_020859.4(SHROOM3):c.2235G>A (p.Pro745=) | not provided [RCV000980950] | likely benign | 4 | 76740408 | 76740408 | Human | | name |
| 8642885 | CV101869 | single nucleotide variant | NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=) | X-linked intellectual disability, Stocco dos Santos type [RCV001807031]|not provided [RCV004713258]|not specified [RCV000082027] | benign|conflicting interpretations of pathogenicity|conflicting data from submitters | X | 50607674 | 50607674 | Human | 1 | name |
| 126747371 | CV1019013 | single nucleotide variant | NM_020717.5(SHROOM4):c.775C>A (p.Gln259Lys) | X-linked intellectual disability, Stocco dos Santos type [RCV001331135]|not specified [RCV004035711] | uncertain significance | X | 50635298 | 50635298 | Human | 1 | name |
| 126747367 | CV1019014 | single nucleotide variant | NM_020717.5(SHROOM4):c.724C>T (p.Arg242Cys) | X-linked intellectual disability, Stocco dos Santos type [RCV001331134]|not specified [RCV004857786] | uncertain significance | X | 50635349 | 50635349 | Human | 1 | name |
| 151235768 | CV1163104 | single nucleotide variant | NM_001649.4(SHROOM2):c.631G>A (p.Gly211Ser) | Meniere disease [RCV001797192] | likely pathogenic | X | 9894539 | 9894539 | Human | 1 | name |
| 151353832 | CV1327384 | single nucleotide variant | NM_020717.5(SHROOM4):c.917C>T (p.Pro306Leu) | not specified [RCV001817328] | uncertain significance | X | 50635156 | 50635156 | Human | | name |
| 151353861 | CV1327413 | single nucleotide variant | NM_020717.5(SHROOM4):c.437G>A (p.Arg146Gln) | not specified [RCV001817357] | benign|conflicting interpretations of pathogenicity|uncertain significance | X | 50635636 | 50635636 | Human | | name |
| 8660690 | CV135760 | single nucleotide variant | NM_020717.5(SHROOM4):c.439C>T (p.His147Tyr) | not provided [RCV000955611]|not specified [RCV000118351] | benign|likely benign | X | 50635634 | 50635634 | Human | | name |
| 155643570 | CV1668084 | single nucleotide variant | NM_020717.5(SHROOM4):c.940G>A (p.Glu314Lys) | X-linked intellectual disability, Stocco dos Santos type [RCV002287903] | uncertain significance | X | 50635133 | 50635133 | Human | 1 | name |
| 153305621 | CV1687728 | single nucleotide variant | NM_020717.5(SHROOM4):c.4281C>T (p.His1427=) | not provided [RCV002263549] | likely benign | X | 50596896 | 50596896 | Human | | name |
| 153349265 | CV1694132 | single nucleotide variant | NM_020717.5(SHROOM4):c.679C>T (p.Pro227Ser) | X-linked intellectual disability, Stocco dos Santos type [RCV002275657] | uncertain significance | X | 50635394 | 50635394 | Human | 1 | name |
| 155663850 | CV1785829 | single nucleotide variant | NM_020717.5(SHROOM4):c.3384G>A (p.Gln1128=) | not specified [RCV004047879] | benign | X | 50607758 | 50607758 | Human | | name |
| 155797098 | CV1860147 | single nucleotide variant | NM_020717.5(SHROOM4):c.384G>T (p.Trp128Cys) | X-linked intellectual disability, Stocco dos Santos type [RCV002466788]|not specified [RCV004067557] | uncertain significance | X | 50638194 | 50638194 | Human | 1 | name |
| 10052211 | CV194487 | single nucleotide variant | NM_020717.5(SHROOM4):c.770G>A (p.Arg257His) | not provided [RCV000178326] | uncertain significance | X | 50635303 | 50635303 | Human | | name |
| 10052212 | CV194488 | single nucleotide variant | NM_020717.5(SHROOM4):c.839G>A (p.Arg280Gln) | not provided [RCV000964097]|not specified [RCV000178327] | benign | X | 50635234 | 50635234 | Human | | name |
| 10052837 | CV195401 | single nucleotide variant | NM_020717.5(SHROOM4):c.3390A>G (p.Gln1130=) | not provided [RCV000179513] | uncertain significance | X | 50607752 | 50607752 | Human | | name |
| 10408475 | CV209088 | single nucleotide variant | NM_020717.5(SHROOM4):c.731A>G (p.Asn244Ser) | not specified [RCV000194351] | likely benign | X | 50635342 | 50635342 | Human | | name |
| 10448917 | CV214772 | duplication | NM_020859.4(SHROOM3):c.2848dup (p.Ala950fs) | not provided [RCV000202360] | uncertain significance | 4 | 76741016 | 76741017 | Human | | name |
| 156263671 | CV2201184 | single nucleotide variant | NM_020859.4(SHROOM3):c.635G>A (p.Arg212Gln) | not specified [RCV004077331] | uncertain significance | 4 | 76738808 | 76738808 | Human | | name |
| 155918450 | CV2205873 | single nucleotide variant | NM_020859.4(SHROOM3):c.319C>T (p.Arg107Cys) | not specified [RCV004078310] | uncertain significance | 4 | 76555759 | 76555759 | Human | | name |
| 156018762 | CV2233252 | single nucleotide variant | NM_001649.4(SHROOM2):c.351G>T (p.Trp117Cys) | not specified [RCV004105637] | uncertain significance | X | 9891010 | 9891010 | Human | | name |
| 156079326 | CV2248500 | single nucleotide variant | NM_001649.4(SHROOM2):c.433G>A (p.Gly145Ser) | not specified [RCV004119629] | likely benign | X | 9891092 | 9891092 | Human | | name |
| 155984186 | CV2274498 | single nucleotide variant | NM_001649.4(SHROOM2):c.777G>C (p.Gln259His) | not specified [RCV004137122] | uncertain significance | X | 9894685 | 9894685 | Human | | name |
| 155928358 | CV2281088 | single nucleotide variant | NM_001649.4(SHROOM2):c.617G>T (p.Arg206Leu) | not specified [RCV004147357] | uncertain significance | X | 9894525 | 9894525 | Human | | name |
| 156197020 | CV2293522 | single nucleotide variant | NM_020859.4(SHROOM3):c.730G>A (p.Gly244Ser) | not specified [RCV004153055] | likely benign | 4 | 76738903 | 76738903 | Human | | name |
| 156007880 | CV2299785 | single nucleotide variant | NM_001172700.2(SHROOM1):c.16C>T (p.Pro6Ser) | not specified [RCV004148943] | uncertain significance | 5 | 132826125 | 132826125 | Human | | name |
| 156164595 | CV2319719 | single nucleotide variant | NM_020859.4(SHROOM3):c.647A>G (p.Gln216Arg) | not specified [RCV004187256] | likely benign | 4 | 76738820 | 76738820 | Human | | name |
| 156257091 | CV2322040 | single nucleotide variant | NM_020859.4(SHROOM3):c.610A>C (p.Asn204His) | not specified [RCV004173790] | uncertain significance | 4 | 76738783 | 76738783 | Human | | name |
| 155923544 | CV2351757 | single nucleotide variant | NM_020859.4(SHROOM3):c.406C>T (p.His136Tyr) | not specified [RCV004197915] | uncertain significance | 4 | 76710238 | 76710238 | Human | | name |
| 155930935 | CV2361289 | single nucleotide variant | NM_020859.4(SHROOM3):c.418G>A (p.Ala140Thr) | not specified [RCV004218505] | uncertain significance | 4 | 76710250 | 76710250 | Human | | name |
| 156187889 | CV2375250 | single nucleotide variant | NM_020859.4(SHROOM3):c.767G>A (p.Arg256Lys) | not specified [RCV004232664] | uncertain significance | 4 | 76738940 | 76738940 | Human | | name |
| 243050203 | CV2415414 | single nucleotide variant | NM_020717.5(SHROOM4):c.326G>T (p.Gly109Val) | X-linked intellectual disability, Stocco dos Santos type [RCV003147946] | uncertain significance | X | 50638252 | 50638252 | Human | 1 | name |
| 329351826 | CV2455357 | single nucleotide variant | NM_001649.4(SHROOM2):c.619G>A (p.Asp207Asn) | not specified [RCV004274857] | uncertain significance | X | 9894527 | 9894527 | Human | | name |
| 329360429 | CV2458736 | single nucleotide variant | NM_020717.5(SHROOM4):c.526C>T (p.Pro176Ser) | not specified [RCV004268387] | uncertain significance | X | 50635547 | 50635547 | Human | | name |
| 11637967 | CV266789 | single nucleotide variant | NM_020717.5(SHROOM4):c.547C>G (p.Pro183Ala) | not provided [RCV000295000] | uncertain significance | X | 50635526 | 50635526 | Human | | name |
| 401729146 | CV2673168 | single nucleotide variant | NM_001649.4(SHROOM2):c.820G>A (p.Gly274Ser) | not specified [RCV004284148] | likely benign | X | 9894728 | 9894728 | Human | | name |
| 401756225 | CV2687040 | single nucleotide variant | NM_020859.4(SHROOM3):c.856A>G (p.Met286Val) | not specified [RCV004304362] | uncertain significance | 4 | 76739029 | 76739029 | Human | | name |
| 401748075 | CV2699997 | single nucleotide variant | NM_020859.4(SHROOM3):c.890A>C (p.Glu297Ala) | not specified [RCV004310427] | uncertain significance | 4 | 76739063 | 76739063 | Human | | name |
| 401763439 | CV2703841 | single nucleotide variant | NM_020859.4(SHROOM3):c.748A>T (p.Ser250Cys) | not specified [RCV004306706] | uncertain significance | 4 | 76738921 | 76738921 | Human | | name |
| 401760358 | CV2709797 | single nucleotide variant | NM_001649.4(SHROOM2):c.385C>A (p.Leu129Ile) | not specified [RCV004320776] | uncertain significance | X | 9891044 | 9891044 | Human | | name |
| 401884497 | CV2759345 | single nucleotide variant | NM_020859.4(SHROOM3):c.822C>A (p.His274Gln) | not specified [RCV004335928] | uncertain significance | 4 | 76738995 | 76738995 | Human | | name |
| 401887550 | CV2772008 | single nucleotide variant | NM_020717.5(SHROOM4):c.763T>A (p.Ser255Thr) | not specified [RCV004344687] | uncertain significance | X | 50635310 | 50635310 | Human | | name |
| 401873295 | CV2776471 | single nucleotide variant | NM_001172700.2(SHROOM1):c.10C>G (p.Leu4Val) | not specified [RCV004355579] | uncertain significance | 5 | 132826131 | 132826131 | Human | | name |
| 401923337 | CV2822593 | single nucleotide variant | NM_020859.4(SHROOM3):c.442C>T (p.Arg148Trp) | not provided [RCV003435045]|not specified [RCV004857978] | uncertain significance | 4 | 76710274 | 76710274 | Human | | name |
| 401931156 | CV2823829 | single nucleotide variant | NM_001649.4(SHROOM2):c.3699C>T (p.Ala1233=) | not provided [RCV003440947] | likely benign | X | 9937245 | 9937245 | Human | | name |
| 401927032 | CV2828947 | single nucleotide variant | NM_020717.5(SHROOM4):c.4065C>T (p.Ala1355=) | not provided [RCV003438328] | likely benign | X | 50598413 | 50598413 | Human | | name |
| 401927033 | CV2828948 | single nucleotide variant | NM_020717.5(SHROOM4):c.4065C>A (p.Ala1355=) | not provided [RCV003438329] | likely benign | X | 50598413 | 50598413 | Human | | name |
| 401927037 | CV2828951 | single nucleotide variant | NM_020717.5(SHROOM4):c.3756C>T (p.Ser1252=) | not provided [RCV003438332] | likely benign | X | 50607386 | 50607386 | Human | | name |
| 401927038 | CV2828952 | single nucleotide variant | NM_020717.5(SHROOM4):c.3498A>G (p.Ser1166=) | not provided [RCV003438333] | likely benign | X | 50607644 | 50607644 | Human | | name |
| 404993587 | CV2851010 | single nucleotide variant | NM_020717.5(SHROOM4):c.384G>A (p.Trp128Ter) | not provided [RCV003491481] | uncertain significance | X | 50638194 | 50638194 | Human | | name |
| 405269789 | CV3187488 | single nucleotide variant | NM_020717.5(SHROOM4):c.763T>G (p.Ser255Ala) | not provided [RCV003887572] | uncertain significance | X | 50635310 | 50635310 | Human | | name |
| 405733260 | CV3311261 | single nucleotide variant | NM_001649.4(SHROOM2):c.616C>T (p.Arg206Cys) | not specified [RCV004451303] | uncertain significance | X | 9894524 | 9894524 | Human | | name |
| 405733267 | CV3311262 | single nucleotide variant | NM_001649.4(SHROOM2):c.682G>A (p.Asp228Asn) | not specified [RCV004451304] | uncertain significance | X | 9894590 | 9894590 | Human | | name |
| 405733271 | CV3311263 | single nucleotide variant | NM_001649.4(SHROOM2):c.913C>A (p.Pro305Thr) | not specified [RCV004451305] | uncertain significance | X | 9894821 | 9894821 | Human | | name |
| 405733277 | CV3311264 | single nucleotide variant | NM_001649.4(SHROOM2):c.950C>T (p.Pro317Leu) | not specified [RCV004451306] | uncertain significance | X | 9894858 | 9894858 | Human | | name |
| 405748369 | CV3311290 | single nucleotide variant | NM_020859.4(SHROOM3):c.401C>A (p.Pro134His) | not specified [RCV004453402] | uncertain significance | 4 | 76710233 | 76710233 | Human | | name |
| 405748588 | CV3311322 | single nucleotide variant | NM_020717.5(SHROOM4):c.503C>T (p.Ala168Val) | not specified [RCV004453434] | uncertain significance | X | 50635570 | 50635570 | Human | | name |
| 405748597 | CV3311323 | single nucleotide variant | NM_020717.5(SHROOM4):c.514A>G (p.Ser172Gly) | not specified [RCV004453435] | likely benign | X | 50635559 | 50635559 | Human | | name |
| 405748603 | CV3311324 | single nucleotide variant | NM_020717.5(SHROOM4):c.533A>G (p.Asp178Gly) | not specified [RCV004453436] | uncertain significance | X | 50635540 | 50635540 | Human | | name |
| 405748610 | CV3311325 | single nucleotide variant | NM_020717.5(SHROOM4):c.725G>A (p.Arg242His) | not specified [RCV004453437] | uncertain significance | X | 50635348 | 50635348 | Human | | name |
| 407501339 | CV3480616 | single nucleotide variant | NM_020859.4(SHROOM3):c.308G>A (p.Arg103Lys) | not specified [RCV004669745] | uncertain significance | 4 | 76555748 | 76555748 | Human | | name |
| 407501393 | CV3480627 | single nucleotide variant | NM_020859.4(SHROOM3):c.897G>A (p.Met299Ile) | not specified [RCV004669756] | uncertain significance | 4 | 76739070 | 76739070 | Human | | name |
| 407572712 | CV3497200 | single nucleotide variant | NM_020717.5(SHROOM4):c.775C>T (p.Gln259Ter) | not provided [RCV004699020] | uncertain significance | X | 50635298 | 50635298 | Human | | name |
| 408380579 | CV3501207 | single nucleotide variant | NM_020717.5(SHROOM4):c.3951T>A (p.Leu1317=) | not provided [RCV004727296] | likely benign | X | 50598527 | 50598527 | Human | | name |
| 597719117 | CV3598894 | single nucleotide variant | NM_001649.4(SHROOM2):c.532G>A (p.Val178Ile) | not specified [RCV004861837] | uncertain significance | X | 9894440 | 9894440 | Human | | name |
| 597719125 | CV3598895 | single nucleotide variant | NM_001649.4(SHROOM2):c.748C>T (p.Arg250Trp) | not specified [RCV004861838] | uncertain significance | X | 9894656 | 9894656 | Human | | name |
| 597719135 | CV3598896 | single nucleotide variant | NM_001649.4(SHROOM2):c.566C>T (p.Ser189Leu) | not specified [RCV004861839] | uncertain significance | X | 9894474 | 9894474 | Human | | name |
| 597719216 | CV3598906 | single nucleotide variant | NM_001649.4(SHROOM2):c.416G>A (p.Gly139Asp) | not specified [RCV004861849] | uncertain significance | X | 9891075 | 9891075 | Human | | name |
| 597719244 | CV3598910 | single nucleotide variant | NM_001649.4(SHROOM2):c.964C>T (p.Arg322Cys) | not specified [RCV004861853] | uncertain significance | X | 9894872 | 9894872 | Human | | name |
| 597719287 | CV3598915 | single nucleotide variant | NM_001649.4(SHROOM2):c.937T>C (p.Ser313Pro) | not specified [RCV004861858] | uncertain significance | X | 9894845 | 9894845 | Human | | name |
| 597719368 | CV3598924 | single nucleotide variant | NM_001649.4(SHROOM2):c.820G>T (p.Gly274Cys) | not specified [RCV004861867] | uncertain significance | X | 9894728 | 9894728 | Human | | name |
| 597719394 | CV3598927 | single nucleotide variant | NM_001649.4(SHROOM2):c.859G>A (p.Glu287Lys) | not specified [RCV004861870] | uncertain significance | X | 9894767 | 9894767 | Human | | name |
| 597719427 | CV3598931 | single nucleotide variant | NM_020859.4(SHROOM3):c.373G>A (p.Val125Ile) | not specified [RCV004861874] | likely benign | 4 | 76710205 | 76710205 | Human | | name |
| 597719523 | CV3598942 | single nucleotide variant | NM_020859.4(SHROOM3):c.845G>A (p.Arg282His) | not specified [RCV004861885] | uncertain significance | 4 | 76739018 | 76739018 | Human | | name |
| 597719555 | CV3598946 | single nucleotide variant | NM_020859.4(SHROOM3):c.612C>G (p.Asn204Lys) | not specified [RCV004861889] | uncertain significance | 4 | 76738785 | 76738785 | Human | | name |
| 597719784 | CV3598970 | single nucleotide variant | NM_020859.4(SHROOM3):c.944G>C (p.Arg315Thr) | not specified [RCV004861913] | uncertain significance | 4 | 76739117 | 76739117 | Human | | name |
| 597719844 | CV3598976 | single nucleotide variant | NM_020717.5(SHROOM4):c.748C>G (p.Pro250Ala) | not specified [RCV004861919] | uncertain significance | X | 50635325 | 50635325 | Human | | name |
| 597719872 | CV3598979 | single nucleotide variant | NM_020717.5(SHROOM4):c.527C>G (p.Pro176Arg) | not specified [RCV004861922] | uncertain significance | X | 50635546 | 50635546 | Human | | name |
| 597719997 | CV3598992 | single nucleotide variant | NM_020717.5(SHROOM4):c.886C>T (p.Arg296Cys) | not specified [RCV004861935] | uncertain significance | X | 50635187 | 50635187 | Human | | name |
| 597720019 | CV3598994 | single nucleotide variant | NM_020717.5(SHROOM4):c.641C>T (p.Thr214Ile) | not specified [RCV004861937] | uncertain significance | X | 50635432 | 50635432 | Human | | name |
| 598126107 | CV3881777 | single nucleotide variant | NM_020717.5(SHROOM4):c.721C>T (p.Arg241Trp) | not provided [RCV005233328] | uncertain significance | X | 50635352 | 50635352 | Human | | name |
| 598242288 | CV3914302 | single nucleotide variant | NM_001649.4(SHROOM2):c.896G>A (p.Gly299Glu) | not specified [RCV005276500] | uncertain significance | X | 9894804 | 9894804 | Human | | name |
| 598242455 | CV3914335 | single nucleotide variant | NM_020859.4(SHROOM3):c.997A>G (p.Arg333Gly) | not specified [RCV005276532] | uncertain significance | 4 | 76739170 | 76739170 | Human | | name |
| 598199350 | CV3914340 | single nucleotide variant | NM_020859.4(SHROOM3):c.616G>A (p.Asp206Asn) | not specified [RCV005268381] | uncertain significance | 4 | 76738789 | 76738789 | Human | | name |
| 598256511 | CV3914354 | single nucleotide variant | NM_020717.5(SHROOM4):c.451G>A (p.Glu151Lys) | not specified [RCV005279025] | uncertain significance | X | 50635622 | 50635622 | Human | | name |
| 598256569 | CV3914366 | single nucleotide variant | NM_020717.5(SHROOM4):c.518A>T (p.His173Leu) | not specified [RCV005279037] | uncertain significance | X | 50635555 | 50635555 | Human | | name |
| 12901011 | CV411405 | single nucleotide variant | NM_020717.5(SHROOM4):c.769C>T (p.Arg257Cys) | not provided [RCV000483678] | conflicting interpretations of pathogenicity|uncertain significance | X | 50635304 | 50635304 | Human | | name |
| 13830828 | CV580792 | single nucleotide variant | NM_020717.5(SHROOM4):c.3504C>T (p.Thr1168=) | History of neurodevelopmental disorder [RCV000721065]|not provided [RCV000965522] | likely benign | X | 50607638 | 50607638 | Human | | name |
| 13830831 | CV581036 | single nucleotide variant | NM_020717.5(SHROOM4):c.509A>G (p.Tyr170Cys) | History of neurodevelopmental disorder [RCV000721070] | uncertain significance | X | 50635564 | 50635564 | Human | | name |
| 13833188 | CV584416 | single nucleotide variant | NM_020717.5(SHROOM4):c.325G>A (p.Gly109Arg) | not provided [RCV000728365] | uncertain significance | X | 50638253 | 50638253 | Human | | name |
| 8625849 | CV80973 | single nucleotide variant | NM_020859.3(SHROOM3):c.3963C>T (p.Asp1321=) | Malignant melanoma [RCV000061051] | not provided | 4 | 76754446 | 76754446 | Human | | name |
| 8625850 | CV80974 | single nucleotide variant | NM_020859.3(SHROOM3):c.5736C>T (p.Tyr1912=) | Malignant melanoma [RCV000061052] | not provided | 4 | 76778922 | 76778922 | Human | | name |
| 8631288 | CV86448 | single nucleotide variant | NM_020859.3(SHROOM3):c.880G>A (p.Gly294Ser) | Malignant melanoma [RCV000066539] | not provided | 4 | 76739053 | 76739053 | Human | | name |
| 34891326 | CV904731 | single nucleotide variant | NM_020717.5(SHROOM4):c.3033C>T (p.Asp1011=) | not provided [RCV001172007] | likely benign | X | 50608109 | 50608109 | Human | | name |
| 126733424 | CV1001276 | single nucleotide variant | NM_020717.5(SHROOM4):c.1913C>G (p.Ser638Cys) | not provided [RCV001311076] | likely benign | X | 50634160 | 50634160 | Human | | name |
| 8642880 | CV101864 | single nucleotide variant | NM_020717.5(SHROOM4):c.1100T>C (p.Val367Ala) | not provided [RCV000082022] | uncertain significance | X | 50634973 | 50634973 | Human | | name |
| 126747361 | CV1019009 | single nucleotide variant | NM_020717.5(SHROOM4):c.2519C>T (p.Thr840Ile) | X-linked intellectual disability, Stocco dos Santos type [RCV001331132] | uncertain significance | X | 50633554 | 50633554 | Human | 1 | name |
| 126747357 | CV1019010 | single nucleotide variant | NM_020717.5(SHROOM4):c.1859T>C (p.Val620Ala) | X-linked intellectual disability, Stocco dos Santos type [RCV001331131] | uncertain significance | X | 50634214 | 50634214 | Human | 1 | name |
| 126747355 | CV1019011 | single nucleotide variant | NM_020717.5(SHROOM4):c.1589C>T (p.Ser530Phe) | X-linked intellectual disability, Stocco dos Santos type [RCV001331130] | uncertain significance | X | 50634484 | 50634484 | Human | 1 | name |
| 126747349 | CV1019012 | single nucleotide variant | NM_020717.5(SHROOM4):c.1157A>G (p.Glu386Gly) | X-linked intellectual disability, Stocco dos Santos type [RCV001331129] | uncertain significance | X | 50634916 | 50634916 | Human | 1 | name |
| 126912034 | CV1038893 | single nucleotide variant | NM_020717.5(SHROOM4):c.2453G>A (p.Cys818Tyr) | not specified [RCV001356063] | benign|likely benign | X | 50633620 | 50633620 | Human | | name |
| 150409801 | CV1196377 | single nucleotide variant | NM_020717.5(SHROOM4):c.1972A>G (p.Met658Val) | not provided [RCV001572799]|not specified [RCV001726587] | benign|likely benign | X | 50634101 | 50634101 | Human | | name |
| 150521288 | CV1289047 | single nucleotide variant | NM_020717.5(SHROOM4):c.2891T>G (p.Val964Gly) | not provided [RCV001725811] | uncertain significance | X | 50633182 | 50633182 | Human | | name |
| 151234434 | CV1320923 | single nucleotide variant | NM_020717.5(SHROOM4):c.1460T>G (p.Leu487Trp) | X-linked intellectual disability, Stocco dos Santos type [RCV001801275] | uncertain significance | X | 50634613 | 50634613 | Human | 1 | name |
| 151662882 | CV1333519 | single nucleotide variant | NM_020717.5(SHROOM4):c.1442A>G (p.Asp481Gly) | not provided [RCV001837711] | likely benign | X | 50634631 | 50634631 | Human | | name |
| 151663389 | CV1333922 | single nucleotide variant | NM_020717.5(SHROOM4):c.1214C>A (p.Pro405His) | X-linked intellectual disability, Stocco dos Santos type [RCV001839097]|not specified [RCV004857813] | uncertain significance | X | 50634859 | 50634859 | Human | 1 | name |
| 151663610 | CV1334076 | single nucleotide variant | NM_020717.5(SHROOM4):c.1448G>C (p.Arg483Thr) | X-linked intellectual disability, Stocco dos Santos type [RCV001839250] | uncertain significance | X | 50634625 | 50634625 | Human | 1 | name |
| 8660683 | CV135753 | duplication | NM_020717.5(SHROOM4):c.3415dup (p.Glu1139fs) | not provided [RCV001573995]|not specified [RCV001727577] | benign|likely benign|uncertain significance | X | 50607726 | 50607727 | Human | | name |
| 8660684 | CV135754 | single nucleotide variant | NM_020717.5(SHROOM4):c.1627A>T (p.Thr543Ser) | not provided [RCV000955610]|not specified [RCV000118345] | benign|likely benign | X | 50634446 | 50634446 | Human | | name |
| 8660685 | CV135755 | single nucleotide variant | NM_020717.5(SHROOM4):c.1879C>T (p.Pro627Ser) | History of neurodevelopmental disorder [RCV000720972]|not provided [RCV001573621]|not specified [RCV000118346] | likely benign|uncertain significance | X | 50634194 | 50634194 | Human | | name |
| 152103914 | CV1667543 | single nucleotide variant | NM_020717.5(SHROOM4):c.1946C>T (p.Pro649Leu) | not provided [RCV002214531] | uncertain significance | X | 50634127 | 50634127 | Human | | name |
| 153345862 | CV1691487 | single nucleotide variant | NM_020717.5(SHROOM4):c.2440A>C (p.Met814Leu) | X-linked intellectual disability, Stocco dos Santos type [RCV002272970] | uncertain significance | X | 50633633 | 50633633 | Human | 1 | name |
| 155731738 | CV1826025 | single nucleotide variant | NM_020717.5(SHROOM4):c.1288G>T (p.Gly430Cys) | not specified [RCV004057787] | benign | X | 50634785 | 50634785 | Human | | name |
| 155707590 | CV1833444 | single nucleotide variant | NM_020717.5(SHROOM4):c.1541G>T (p.Arg514Ile) | not provided [RCV003439015]|not specified [RCV004059023] | benign|likely benign | X | 50634532 | 50634532 | Human | | name |
| 156369111 | CV1887848 | single nucleotide variant | NM_020859.4(SHROOM3):c.2831G>C (p.Arg944Pro) | not provided [RCV003092279] | uncertain significance | 4 | 76741004 | 76741004 | Human | | name |
| 10052210 | CV194486 | single nucleotide variant | NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly) | X-linked intellectual disability, Stocco dos Santos type [RCV000613790]|not provided [RCV001726023]|not specified [RCV000178325] | benign|likely benign | X | 50633881 | 50633881 | Human | 1 | name |
| 10448918 | CV214773 | single nucleotide variant | NM_020859.4(SHROOM3):c.1176C>G (p.Tyr392Ter) | not provided [RCV000202361] | likely pathogenic|uncertain significance | 4 | 76739349 | 76739349 | Human | | name |
| 155918315 | CV2195850 | single nucleotide variant | NM_020717.5(SHROOM4):c.2480A>G (p.Asp827Gly) | not specified [RCV004076191] | uncertain significance | X | 50633593 | 50633593 | Human | | name |
| 156399486 | CV2205148 | single nucleotide variant | NM_020859.4(SHROOM3):c.1381C>A (p.Pro461Thr) | not specified [RCV004077745] | uncertain significance | 4 | 76739554 | 76739554 | Human | | name |
| 156401289 | CV2210828 | single nucleotide variant | NM_020859.4(SHROOM3):c.1777A>G (p.Ser593Gly) | not specified [RCV004085917] | likely benign | 4 | 76739950 | 76739950 | Human | | name |
| 156250825 | CV2215699 | single nucleotide variant | NM_020717.5(SHROOM4):c.2468G>A (p.Arg823His) | not specified [RCV004091226] | uncertain significance | X | 50633605 | 50633605 | Human | | name |
| 155923941 | CV2217759 | single nucleotide variant | NM_001649.4(SHROOM2):c.2864G>A (p.Arg955Gln) | not specified [RCV004083939] | uncertain significance | X | 9898263 | 9898263 | Human | | name |
| 155986471 | CV2233998 | single nucleotide variant | NM_020859.4(SHROOM3):c.2549A>G (p.Asn850Ser) | not specified [RCV004106121] | uncertain significance | 4 | 76740722 | 76740722 | Human | | name |
| 156184952 | CV2239300 | single nucleotide variant | NM_020859.4(SHROOM3):c.2397T>G (p.Ser799Arg) | not specified [RCV004112262] | uncertain significance | 4 | 76740570 | 76740570 | Human | | name |
| 155970316 | CV2241350 | single nucleotide variant | NM_001649.4(SHROOM2):c.2956G>T (p.Ala986Ser) | not specified [RCV004102484] | uncertain significance | X | 9932239 | 9932239 | Human | | name |
| 156082926 | CV2244437 | single nucleotide variant | NM_001649.4(SHROOM2):c.1669C>T (p.Arg557Cys) | not specified [RCV004100404] | uncertain significance | X | 9895577 | 9895577 | Human | | name |
| 156173350 | CV2247593 | single nucleotide variant | NM_020717.5(SHROOM4):c.1516G>A (p.Glu506Lys) | not specified [RCV004108893] | uncertain significance | X | 50634557 | 50634557 | Human | | name |
| 155994921 | CV2249365 | single nucleotide variant | NM_020717.5(SHROOM4):c.2007C>A (p.Ser669Arg) | not specified [RCV004118377] | uncertain significance | X | 50634066 | 50634066 | Human | | name |
| 156076834 | CV2251408 | single nucleotide variant | NM_020859.4(SHROOM3):c.1350T>A (p.His450Gln) | not specified [RCV004117391] | uncertain significance | 4 | 76739523 | 76739523 | Human | | name |
| 155923174 | CV2251873 | single nucleotide variant | NM_020859.4(SHROOM3):c.1408G>C (p.Val470Leu) | not specified [RCV004119854] | uncertain significance | 4 | 76739581 | 76739581 | Human | | name |
| 156193163 | CV2255452 | single nucleotide variant | NM_020859.4(SHROOM3):c.2459C>T (p.Thr820Ile) | not specified [RCV004117806] | uncertain significance | 4 | 76740632 | 76740632 | Human | | name |
| 156240749 | CV2265593 | single nucleotide variant | NM_001649.4(SHROOM2):c.1175A>G (p.His392Arg) | not specified [RCV004124329] | likely benign | X | 9895083 | 9895083 | Human | | name |
| 156070831 | CV2267190 | single nucleotide variant | NM_001649.4(SHROOM2):c.1460C>T (p.Ala487Val) | not specified [RCV004133876] | likely benign | X | 9895368 | 9895368 | Human | | name |
| 156075058 | CV2273216 | single nucleotide variant | NM_020717.5(SHROOM4):c.1382G>T (p.Cys461Phe) | not specified [RCV004132014] | uncertain significance | X | 50634691 | 50634691 | Human | | name |
| 155949026 | CV2273599 | single nucleotide variant | NM_020717.5(SHROOM4):c.2917A>G (p.Asn973Asp) | not specified [RCV004134118] | uncertain significance | X | 50627654 | 50627654 | Human | | name |
| 156247968 | CV2276940 | single nucleotide variant | NM_020859.4(SHROOM3):c.2462C>A (p.Ser821Tyr) | not specified [RCV004140274] | uncertain significance | 4 | 76740635 | 76740635 | Human | | name |
| 155928936 | CV2281325 | single nucleotide variant | NM_020717.5(SHROOM4):c.1778G>A (p.Arg593His) | not specified [RCV004147554] | uncertain significance | X | 50634295 | 50634295 | Human | | name |
| 155986372 | CV2282560 | single nucleotide variant | NM_020859.4(SHROOM3):c.2045G>A (p.Arg682Gln) | not specified [RCV004135131] | uncertain significance | 4 | 76740218 | 76740218 | Human | | name |
| 155941258 | CV2294221 | single nucleotide variant | NM_020717.5(SHROOM4):c.2231G>C (p.Gly744Ala) | not specified [RCV004149575] | uncertain significance | X | 50633842 | 50633842 | Human | | name |
| 155900985 | CV2298119 | single nucleotide variant | NM_001649.4(SHROOM2):c.1153C>T (p.Pro385Ser) | not specified [RCV004159785] | likely benign | X | 9895061 | 9895061 | Human | | name |
| 156054423 | CV2308669 | single nucleotide variant | NM_001649.4(SHROOM2):c.2486C>G (p.Pro829Arg) | not specified [RCV004167217] | uncertain significance | X | 9896394 | 9896394 | Human | | name |
| 156350300 | CV2316184 | single nucleotide variant | NM_020859.4(SHROOM3):c.2525G>A (p.Gly842Asp) | not specified [RCV004174227] | uncertain significance | 4 | 76740698 | 76740698 | Human | | name |
| 156276129 | CV2316512 | single nucleotide variant | NM_020717.5(SHROOM4):c.1154A>G (p.Asn385Ser) | not specified [RCV004169981] | uncertain significance | X | 50634919 | 50634919 | Human | | name |
| 156056568 | CV2320627 | single nucleotide variant | NM_020717.5(SHROOM4):c.2713T>C (p.Ser905Pro) | not specified [RCV004172242] | uncertain significance | X | 50633360 | 50633360 | Human | | name |
| 156193860 | CV2322002 | single nucleotide variant | NM_020717.5(SHROOM4):c.1933A>C (p.Lys645Gln) | not specified [RCV004173759] | uncertain significance | X | 50634140 | 50634140 | Human | | name |
| 156300490 | CV2322494 | single nucleotide variant | NM_001649.4(SHROOM2):c.1452C>G (p.Asp484Glu) | not specified [RCV004180615] | uncertain significance | X | 9895360 | 9895360 | Human | | name |
| 155976343 | CV2324676 | single nucleotide variant | NM_001649.4(SHROOM2):c.1681G>C (p.Ala561Pro) | not specified [RCV004172920] | uncertain significance | X | 9895589 | 9895589 | Human | | name |
| 156253125 | CV2325474 | single nucleotide variant | NM_001649.4(SHROOM2):c.2992T>A (p.Cys998Ser) | not specified [RCV004179926] | likely benign | X | 9932275 | 9932275 | Human | | name |
| 156191628 | CV2325620 | single nucleotide variant | NM_001649.4(SHROOM2):c.1719T>A (p.Asp573Glu) | not specified [RCV004180036] | uncertain significance | X | 9895627 | 9895627 | Human | | name |
| 156186029 | CV2332479 | single nucleotide variant | NM_020859.4(SHROOM3):c.1193G>A (p.Arg398His) | not specified [RCV004196204] | uncertain significance | 4 | 76739366 | 76739366 | Human | | name |
| 156283137 | CV2334643 | single nucleotide variant | NM_020859.4(SHROOM3):c.2096C>T (p.Thr699Ile) | not specified [RCV004188628] | uncertain significance | 4 | 76740269 | 76740269 | Human | | name |
| 156283146 | CV2360548 | single nucleotide variant | NM_020859.4(SHROOM3):c.2861C>T (p.Ser954Leu) | not specified [RCV004211308] | uncertain significance | 4 | 76741034 | 76741034 | Human | | name |
| 156082264 | CV2368895 | single nucleotide variant | NM_001649.4(SHROOM2):c.1178C>A (p.Ala393Glu) | not provided [RCV003435948]|not specified [RCV004207851] | likely benign|uncertain significance | X | 9895086 | 9895086 | Human | | name |
| 156209375 | CV2370102 | single nucleotide variant | NM_001649.4(SHROOM2):c.1495A>G (p.Thr499Ala) | not specified [RCV004210993] | uncertain significance | X | 9895403 | 9895403 | Human | | name |
| 155937792 | CV2373831 | single nucleotide variant | NM_020717.5(SHROOM4):c.1693C>T (p.Arg565Trp) | not specified [RCV004224767] | uncertain significance | X | 50634380 | 50634380 | Human | | name |
| 156261019 | CV2381269 | single nucleotide variant | NM_001649.4(SHROOM2):c.1600C>T (p.Arg534Trp) | not specified [RCV004227331] | uncertain significance | X | 9895508 | 9895508 | Human | | name |
| 156391795 | CV2382611 | single nucleotide variant | NM_001649.4(SHROOM2):c.1532C>T (p.Thr511Met) | not specified [RCV004232935] | uncertain significance | X | 9895440 | 9895440 | Human | | name |
| 156053204 | CV2388518 | single nucleotide variant | NM_001649.4(SHROOM2):c.2858C>A (p.Ala953Glu) | not specified [RCV004237370] | uncertain significance | X | 9898257 | 9898257 | Human | | name |
| 156046896 | CV2390896 | single nucleotide variant | NM_020859.4(SHROOM3):c.1229A>C (p.Lys410Thr) | not specified [RCV004234911] | uncertain significance | 4 | 76739402 | 76739402 | Human | | name |
| 156007853 | CV2392662 | single nucleotide variant | NM_020859.4(SHROOM3):c.1217G>A (p.Ser406Asn) | not specified [RCV004247043] | uncertain significance | 4 | 76739390 | 76739390 | Human | | name |
| 156267671 | CV2398354 | single nucleotide variant | NM_020859.4(SHROOM3):c.1519G>A (p.Ala507Thr) | not specified [RCV004237692] | uncertain significance | 4 | 76739692 | 76739692 | Human | | name |
| 329388860 | CV2438344 | single nucleotide variant | NM_020859.4(SHROOM3):c.1879G>A (p.Glu627Lys) | not specified [RCV004257094] | uncertain significance | 4 | 76740052 | 76740052 | Human | | name |
| 329365616 | CV2440933 | single nucleotide variant | NM_020859.4(SHROOM3):c.1982C>A (p.Ala661Asp) | not specified [RCV004261322] | uncertain significance | 4 | 76740155 | 76740155 | Human | | name |
| 329374370 | CV2443865 | single nucleotide variant | NM_001649.4(SHROOM2):c.1301A>G (p.Asp434Gly) | not specified [RCV004258204] | uncertain significance | X | 9895209 | 9895209 | Human | | name |
| 329355526 | CV2445523 | single nucleotide variant | NM_020859.4(SHROOM3):c.1859C>T (p.Ser620Phe) | not specified [RCV004257577] | uncertain significance | 4 | 76740032 | 76740032 | Human | | name |
| 329393875 | CV2449924 | single nucleotide variant | NM_020859.4(SHROOM3):c.2083T>C (p.Cys695Arg) | not specified [RCV004268998] | uncertain significance | 4 | 76740256 | 76740256 | Human | | name |
| 329379463 | CV2456130 | single nucleotide variant | NM_020717.5(SHROOM4):c.2615G>T (p.Cys872Phe) | not specified [RCV004273326] | uncertain significance | X | 50633458 | 50633458 | Human | | name |
| 329368145 | CV2457066 | single nucleotide variant | NM_020717.5(SHROOM4):c.2712T>G (p.Cys904Trp) | not specified [RCV004264851] | uncertain significance | X | 50633361 | 50633361 | Human | | name |
| 329395681 | CV2462930 | single nucleotide variant | NM_020717.5(SHROOM4):c.2876C>T (p.Pro959Leu) | not specified [RCV004272769] | uncertain significance | X | 50633197 | 50633197 | Human | | name |
| 329380360 | CV2466580 | single nucleotide variant | NM_001649.4(SHROOM2):c.1030G>A (p.Ala344Thr) | not specified [RCV004274112] | uncertain significance | X | 9894938 | 9894938 | Human | | name |
| 329392826 | CV2468977 | single nucleotide variant | NM_001649.4(SHROOM2):c.2863C>G (p.Arg955Gly) | not specified [RCV004274242] | uncertain significance | X | 9898262 | 9898262 | Human | | name |
| 329398505 | CV2471128 | single nucleotide variant | NM_020717.5(SHROOM4):c.1993T>C (p.Ser665Pro) | not specified [RCV004278381] | uncertain significance | X | 50634080 | 50634080 | Human | | name |
| 401742342 | CV2673759 | single nucleotide variant | NM_020859.4(SHROOM3):c.2942C>T (p.Thr981Met) | not specified [RCV004293146] | uncertain significance | 4 | 76741115 | 76741115 | Human | | name |
| 401738750 | CV2676364 | single nucleotide variant | NM_020717.5(SHROOM4):c.1135G>A (p.Val379Met) | not specified [RCV004286390] | likely benign | X | 50634938 | 50634938 | Human | | name |
| 401768724 | CV2686351 | single nucleotide variant | NM_001649.4(SHROOM2):c.1680A>T (p.Lys560Asn) | not specified [RCV004297426] | uncertain significance | X | 9895588 | 9895588 | Human | | name |
| 401782453 | CV2686867 | single nucleotide variant | NM_020717.5(SHROOM4):c.2051G>A (p.Arg684Gln) | not specified [RCV004302045] | likely benign | X | 50634022 | 50634022 | Human | | name |
| 401744938 | CV2693145 | single nucleotide variant | NM_001172700.2(SHROOM1):c.61G>A (p.Asp21Asn) | not specified [RCV004293081] | uncertain significance | 5 | 132826080 | 132826080 | Human | | name |
| 401759213 | CV2694456 | single nucleotide variant | NM_020859.4(SHROOM3):c.2948G>A (p.Arg983Gln) | not specified [RCV004304623] | uncertain significance | 4 | 76741121 | 76741121 | Human | | name |
| 401744435 | CV2697000 | single nucleotide variant | NM_020859.4(SHROOM3):c.1054C>T (p.Arg352Trp) | not specified [RCV004292991] | uncertain significance | 4 | 76739227 | 76739227 | Human | | name |
| 401735186 | CV2699192 | single nucleotide variant | NM_020717.5(SHROOM4):c.2628C>G (p.His876Gln) | not specified [RCV004303687] | uncertain significance | X | 50633445 | 50633445 | Human | | name |
| 401777934 | CV2704464 | single nucleotide variant | NM_020859.4(SHROOM3):c.2498G>A (p.Arg833His) | not specified [RCV004313211] | likely benign | 4 | 76740671 | 76740671 | Human | | name |
| 401764483 | CV2705032 | single nucleotide variant | NM_020859.4(SHROOM3):c.1177G>A (p.Ala393Thr) | not specified [RCV004309952] | uncertain significance | 4 | 76739350 | 76739350 | Human | | name |
| 401760220 | CV2709673 | single nucleotide variant | NM_020859.4(SHROOM3):c.1230A>T (p.Lys410Asn) | not specified [RCV004318883] | uncertain significance | 4 | 76739403 | 76739403 | Human | | name |
| 401764643 | CV2721434 | single nucleotide variant | NM_020859.4(SHROOM3):c.2002A>G (p.Ile668Val) | not specified [RCV004322173] | uncertain significance | 4 | 76740175 | 76740175 | Human | | name |
| 401767104 | CV2721534 | single nucleotide variant | NM_001649.4(SHROOM2):c.1994C>T (p.Ala665Val) | not specified [RCV004316050] | likely benign | X | 9895902 | 9895902 | Human | | name |
| 401729375 | CV2733000 | single nucleotide variant | NM_001649.4(SHROOM2):c.1004C>T (p.Ala335Val) | not specified [RCV004331174] | uncertain significance | X | 9894912 | 9894912 | Human | | name |
| 401863033 | CV2755801 | single nucleotide variant | NM_020859.4(SHROOM3):c.2906G>A (p.Arg969Gln) | not specified [RCV004342174] | uncertain significance | 4 | 76741079 | 76741079 | Human | | name |
| 401866259 | CV2762584 | single nucleotide variant | NM_001649.4(SHROOM2):c.1685G>T (p.Ser562Ile) | not specified [RCV004338108] | uncertain significance | X | 9895593 | 9895593 | Human | | name |
| 401866262 | CV2762585 | single nucleotide variant | NM_001649.4(SHROOM2):c.1746G>C (p.Gln582His) | not specified [RCV004338109] | uncertain significance | X | 9895654 | 9895654 | Human | | name |
| 401856686 | CV2764876 | single nucleotide variant | NM_020859.4(SHROOM3):c.2143C>A (p.His715Asn) | not specified [RCV004334970] | uncertain significance | 4 | 76740316 | 76740316 | Human | | name |
| 401857678 | CV2767436 | single nucleotide variant | NM_020859.4(SHROOM3):c.1346A>G (p.Lys449Arg) | not specified [RCV004349589] | uncertain significance | 4 | 76739519 | 76739519 | Human | | name |
| 401876443 | CV2770879 | single nucleotide variant | NM_020859.4(SHROOM3):c.1058G>A (p.Gly353Asp) | not specified [RCV004343554] | uncertain significance | 4 | 76739231 | 76739231 | Human | | name |
| 401892553 | CV2782195 | single nucleotide variant | NM_020859.4(SHROOM3):c.2991G>T (p.Arg997Ser) | not specified [RCV004359171] | uncertain significance | 4 | 76741164 | 76741164 | Human | | name |
| 401867456 | CV2792526 | single nucleotide variant | NM_020859.4(SHROOM3):c.1463A>G (p.Asn488Ser) | not specified [RCV004363569] | uncertain significance | 4 | 76739636 | 76739636 | Human | | name |
| 401918894 | CV2794693 | single nucleotide variant | NM_020717.5(SHROOM4):c.1628C>T (p.Thr543Ile) | not specified [RCV003388367] | uncertain significance | X | 50634445 | 50634445 | Human | | name |
| 401923339 | CV2822594 | single nucleotide variant | NM_020859.4(SHROOM3):c.2849C>T (p.Ala950Val) | not provided [RCV003435046] | uncertain significance | 4 | 76741022 | 76741022 | Human | | name |
| 401931161 | CV2823825 | single nucleotide variant | NM_001649.4(SHROOM2):c.1840G>A (p.Ala614Thr) | not provided [RCV003440943] | likely benign | X | 9895748 | 9895748 | Human | | name |
| 401931158 | CV2823827 | single nucleotide variant | NM_001649.4(SHROOM2):c.2558A>G (p.Asn853Ser) | not provided [RCV003440945]|not specified [RCV004364634] | likely benign | X | 9896466 | 9896466 | Human | | name |
| 401931157 | CV2823828 | single nucleotide variant | NM_001649.4(SHROOM2):c.2810G>A (p.Arg937Gln) | not provided [RCV003440946] | likely benign | X | 9898209 | 9898209 | Human | | name |
| 401917848 | CV2827995 | single nucleotide variant | NM_001172700.2(SHROOM1):c.504C>G (p.Pro168=) | not provided [RCV003429766] | likely benign | 5 | 132825637 | 132825637 | Human | | name |
| 401927040 | CV2828953 | single nucleotide variant | NM_020717.5(SHROOM4):c.2441T>C (p.Met814Thr) | not provided [RCV003438334] | likely benign|uncertain significance | X | 50633632 | 50633632 | Human | | name |
| 401927041 | CV2828954 | single nucleotide variant | NM_020717.5(SHROOM4):c.1201C>T (p.His401Tyr) | not provided [RCV003438335] | likely benign | X | 50634872 | 50634872 | Human | | name |
| 401927043 | CV2828955 | single nucleotide variant | NM_020717.5(SHROOM4):c.1145A>G (p.Asn382Ser) | not provided [RCV003438336] | likely benign | X | 50634928 | 50634928 | Human | | name |
| 401944945 | CV2840752 | single nucleotide variant | NM_020717.5(SHROOM4):c.2137G>A (p.Glu713Lys) | not provided [RCV003457600] | uncertain significance | X | 50633936 | 50633936 | Human | | name |
| 404993579 | CV2851009 | single nucleotide variant | NM_020717.5(SHROOM4):c.1747C>T (p.Arg583Trp) | not provided [RCV003491480] | uncertain significance | X | 50634326 | 50634326 | Human | | name |
| 404993619 | CV2851015 | single nucleotide variant | NM_020717.5(SHROOM4):c.2906G>A (p.Gly969Glu) | not provided [RCV003491486] | uncertain significance | X | 50627665 | 50627665 | Human | | name |
| 404993635 | CV2851017 | single nucleotide variant | NM_020717.5(SHROOM4):c.1744C>T (p.Arg582Trp) | not provided [RCV003491488] | uncertain significance | X | 50634329 | 50634329 | Human | | name |
| 405191078 | CV2988154 | single nucleotide variant | NM_020717.5(SHROOM4):c.1738C>G (p.Gln580Glu) | not provided [RCV003706467] | uncertain significance | X | 50634335 | 50634335 | Human | | name |
| 405733171 | CV3311249 | single nucleotide variant | NM_001649.4(SHROOM2):c.2573C>T (p.Ala858Val) | not specified [RCV004451291] | uncertain significance | X | 9896481 | 9896481 | Human | | name |
| 405733177 | CV3311250 | single nucleotide variant | NM_001649.4(SHROOM2):c.2611G>A (p.Gly871Ser) | not specified [RCV004451292] | uncertain significance | X | 9896519 | 9896519 | Human | | name |
| 405733191 | CV3311252 | single nucleotide variant | NM_001649.4(SHROOM2):c.2833G>A (p.Glu945Lys) | not specified [RCV004451294] | uncertain significance | X | 9898232 | 9898232 | Human | | name |
| 405733197 | CV3311253 | single nucleotide variant | NM_001649.4(SHROOM2):c.2911C>T (p.Arg971Trp) | not specified [RCV004451295] | likely benign | X | 9932194 | 9932194 | Human | | name |
| 405733210 | CV3311254 | single nucleotide variant | NM_001649.4(SHROOM2):c.2960C>T (p.Pro987Leu) | not specified [RCV004451296] | uncertain significance | X | 9932243 | 9932243 | Human | | name |
| 405733285 | CV3311265 | single nucleotide variant | NM_020859.4(SHROOM3):c.1067T>C (p.Val356Ala) | not specified [RCV004451307] | likely benign | 4 | 76739240 | 76739240 | Human | | name |
| 405733293 | CV3311266 | single nucleotide variant | NM_020859.4(SHROOM3):c.1186C>T (p.Arg396Trp) | not specified [RCV004451308] | uncertain significance | 4 | 76739359 | 76739359 | Human | | name |
| 405733319 | CV3311269 | single nucleotide variant | NM_020859.4(SHROOM3):c.1240C>T (p.Arg414Trp) | not specified [RCV004451311] | uncertain significance | 4 | 76739413 | 76739413 | Human | | name |
| 405733325 | CV3311270 | single nucleotide variant | NM_020859.4(SHROOM3):c.1532T>C (p.Met511Thr) | not specified [RCV004451312] | uncertain significance | 4 | 76739705 | 76739705 | Human | | name |
| 405733332 | CV3311271 | single nucleotide variant | NM_020859.4(SHROOM3):c.2006C>T (p.Pro669Leu) | not specified [RCV004451313] | uncertain significance | 4 | 76740179 | 76740179 | Human | | name |
| 405733348 | CV3311273 | single nucleotide variant | NM_020859.4(SHROOM3):c.2243C>G (p.Pro748Arg) | not specified [RCV004451315] | uncertain significance | 4 | 76740416 | 76740416 | Human | | name |
| 405733356 | CV3311274 | single nucleotide variant | NM_020859.4(SHROOM3):c.2339C>T (p.Ser780Leu) | not specified [RCV004451316] | uncertain significance | 4 | 76740512 | 76740512 | Human | | name |
| 405733363 | CV3311275 | single nucleotide variant | NM_020859.4(SHROOM3):c.2468A>G (p.Asn823Ser) | not specified [RCV004451317] | uncertain significance | 4 | 76740641 | 76740641 | Human | | name |
| 405733370 | CV3311276 | single nucleotide variant | NM_020859.4(SHROOM3):c.2615C>G (p.Ser872Trp) | not specified [RCV004451318] | uncertain significance | 4 | 76740788 | 76740788 | Human | | name |
| 405733378 | CV3311277 | single nucleotide variant | NM_020859.4(SHROOM3):c.2647G>A (p.Ala883Thr) | not specified [RCV004451319] | uncertain significance | 4 | 76740820 | 76740820 | Human | | name |
| 405733385 | CV3311278 | single nucleotide variant | NM_020859.4(SHROOM3):c.2699G>A (p.Arg900Lys) | not specified [RCV004451320] | likely benign | 4 | 76740872 | 76740872 | Human | | name |
| 405733392 | CV3311279 | single nucleotide variant | NM_020859.4(SHROOM3):c.2797T>C (p.Ser933Pro) | not specified [RCV004451321] | uncertain significance | 4 | 76740970 | 76740970 | Human | | name |
| 405733399 | CV3311280 | single nucleotide variant | NM_020859.4(SHROOM3):c.2930C>T (p.Ala977Val) | not specified [RCV004451322] | uncertain significance | 4 | 76741103 | 76741103 | Human | | name |
| 405748468 | CV3311305 | single nucleotide variant | NM_020717.5(SHROOM4):c.1129T>C (p.Ser377Pro) | not specified [RCV004453417] | uncertain significance | X | 50634944 | 50634944 | Human | | name |
| 405748475 | CV3311306 | single nucleotide variant | NM_020717.5(SHROOM4):c.1394G>T (p.Gly465Val) | not specified [RCV004453418] | uncertain significance | X | 50634679 | 50634679 | Human | | name |
| 405748482 | CV3311307 | single nucleotide variant | NM_020717.5(SHROOM4):c.1402C>G (p.His468Asp) | not specified [RCV004453419] | uncertain significance | X | 50634671 | 50634671 | Human | | name |
| 405748496 | CV3311309 | single nucleotide variant | NM_020717.5(SHROOM4):c.1694G>A (p.Arg565Gln) | not specified [RCV004453421] | uncertain significance | X | 50634379 | 50634379 | Human | | name |
| 405748503 | CV3311310 | single nucleotide variant | NM_020717.5(SHROOM4):c.1752G>C (p.Lys584Asn) | not specified [RCV004453422] | uncertain significance | X | 50634321 | 50634321 | Human | | name |
| 405748524 | CV3311313 | single nucleotide variant | NM_020717.5(SHROOM4):c.2478G>A (p.Met826Ile) | not specified [RCV004453425] | uncertain significance | X | 50633595 | 50633595 | Human | | name |
| 405748532 | CV3311314 | single nucleotide variant | NM_020717.5(SHROOM4):c.2545C>A (p.Pro849Thr) | not specified [RCV004453426] | uncertain significance | X | 50633528 | 50633528 | Human | | name |
| 405748540 | CV3311315 | single nucleotide variant | NM_020717.5(SHROOM4):c.2629T>C (p.Cys877Arg) | not specified [RCV004453427] | uncertain significance | X | 50633444 | 50633444 | Human | | name |
| 405748545 | CV3311316 | single nucleotide variant | NM_020717.5(SHROOM4):c.2755C>T (p.Pro919Ser) | not specified [RCV004453428] | uncertain significance | X | 50633318 | 50633318 | Human | | name |
| 405748552 | CV3311317 | single nucleotide variant | NM_020717.5(SHROOM4):c.2779C>T (p.His927Tyr) | not specified [RCV004453429] | uncertain significance | X | 50633294 | 50633294 | Human | | name |
| 405748568 | CV3311319 | single nucleotide variant | NM_020717.5(SHROOM4):c.2878A>G (p.Arg960Gly) | not specified [RCV004453431] | uncertain significance | X | 50633195 | 50633195 | Human | | name |
| 405733118 | CV3314699 | single nucleotide variant | NM_001649.4(SHROOM2):c.1058C>T (p.Ala353Val) | not specified [RCV004451284] | uncertain significance | X | 9894966 | 9894966 | Human | | name |
| 405733126 | CV3314700 | single nucleotide variant | NM_001649.4(SHROOM2):c.1061A>G (p.Gln354Arg) | not specified [RCV004451285] | likely benign | X | 9894969 | 9894969 | Human | | name |
| 405733133 | CV3314701 | single nucleotide variant | NM_001649.4(SHROOM2):c.1114T>C (p.Ser372Pro) | not specified [RCV004451286] | uncertain significance | X | 9895022 | 9895022 | Human | | name |
| 405733141 | CV3314702 | single nucleotide variant | NM_001649.4(SHROOM2):c.1135G>A (p.Gly379Arg) | not specified [RCV004451287] | uncertain significance | X | 9895043 | 9895043 | Human | | name |
| 405733146 | CV3314703 | single nucleotide variant | NM_001649.4(SHROOM2):c.1742C>T (p.Pro581Leu) | not specified [RCV004451288] | uncertain significance | X | 9895650 | 9895650 | Human | | name |
| 405733156 | CV3314704 | single nucleotide variant | NM_001649.4(SHROOM2):c.1984C>T (p.Arg662Cys) | not specified [RCV004451289] | uncertain significance | X | 9895892 | 9895892 | Human | | name |
| 405733165 | CV3314705 | single nucleotide variant | NM_001649.4(SHROOM2):c.2311G>A (p.Glu771Lys) | not specified [RCV004451290] | uncertain significance | X | 9896219 | 9896219 | Human | | name |
| 405872115 | CV3398238 | single nucleotide variant | NM_020717.5(SHROOM4):c.2839G>A (p.Glu947Lys) | not provided [RCV004575239] | uncertain significance | X | 50633234 | 50633234 | Human | | name |
| 407501136 | CV3480590 | single nucleotide variant | NM_001172700.2(SHROOM1):c.29G>A (p.Arg10His) | not specified [RCV004669726] | uncertain significance | 5 | 132826112 | 132826112 | Human | | name |
| 407501154 | CV3480596 | single nucleotide variant | NM_001649.4(SHROOM2):c.1275C>A (p.Ser425Arg) | not specified [RCV004669730] | uncertain significance | X | 9895183 | 9895183 | Human | | name |
| 407501160 | CV3480598 | single nucleotide variant | NM_001649.4(SHROOM2):c.2869G>A (p.Glu957Lys) | not specified [RCV004669731] | likely benign | X | 9898268 | 9898268 | Human | | name |
| 407519212 | CV3480599 | single nucleotide variant | NM_001649.4(SHROOM2):c.1730G>T (p.Ser577Ile) | not specified [RCV004676394] | uncertain significance | X | 9895638 | 9895638 | Human | | name |
| 407501169 | CV3480601 | single nucleotide variant | NM_001649.4(SHROOM2):c.1619A>G (p.Lys540Arg) | not specified [RCV004669733] | likely benign | X | 9895527 | 9895527 | Human | | name |
| 407519216 | CV3480605 | single nucleotide variant | NM_001649.4(SHROOM2):c.1000A>G (p.Lys334Glu) | not specified [RCV004676396] | uncertain significance | X | 9894908 | 9894908 | Human | | name |
| 407501184 | CV3480607 | single nucleotide variant | NM_001649.4(SHROOM2):c.1685G>C (p.Ser562Thr) | not specified [RCV004669736] | uncertain significance | X | 9895593 | 9895593 | Human | | name |
| 407501193 | CV3480609 | single nucleotide variant | NM_001649.4(SHROOM2):c.1693C>G (p.Leu565Val) | not specified [RCV004669738] | uncertain significance | X | 9895601 | 9895601 | Human | | name |
| 407501210 | CV3480612 | single nucleotide variant | NM_020859.4(SHROOM3):c.1934A>G (p.Glu645Gly) | not specified [RCV004669741] | uncertain significance | 4 | 76740107 | 76740107 | Human | | name |
| 407501213 | CV3480613 | single nucleotide variant | NM_020859.4(SHROOM3):c.1935A>C (p.Glu645Asp) | not specified [RCV004669742] | uncertain significance | 4 | 76740108 | 76740108 | Human | | name |
| 407501219 | CV3480614 | single nucleotide variant | NM_020859.4(SHROOM3):c.1192C>T (p.Arg398Cys) | not specified [RCV004669743] | uncertain significance | 4 | 76739365 | 76739365 | Human | | name |
| 407501346 | CV3480617 | single nucleotide variant | NM_020859.4(SHROOM3):c.2650C>G (p.Arg884Gly) | not specified [RCV004669746] | uncertain significance | 4 | 76740823 | 76740823 | Human | | name |
| 407501351 | CV3480618 | single nucleotide variant | NM_020859.4(SHROOM3):c.2485A>G (p.Lys829Glu) | not specified [RCV004669747] | uncertain significance | 4 | 76740658 | 76740658 | Human | | name |
| 407501369 | CV3480622 | single nucleotide variant | NM_020859.4(SHROOM3):c.1100G>C (p.Ser367Thr) | not specified [RCV004669751] | uncertain significance | 4 | 76739273 | 76739273 | Human | | name |
| 407501373 | CV3480623 | single nucleotide variant | NM_020859.4(SHROOM3):c.2209A>T (p.Ser737Cys) | not specified [RCV004669752] | uncertain significance | 4 | 76740382 | 76740382 | Human | | name |
| 407501397 | CV3480628 | single nucleotide variant | NM_020859.4(SHROOM3):c.2086G>T (p.Ala696Ser) | not specified [RCV004669757] | uncertain significance | 4 | 76740259 | 76740259 | Human | | name |
| 407519221 | CV3480632 | single nucleotide variant | NM_020859.4(SHROOM3):c.2158G>A (p.Val720Ile) | not specified [RCV004676398] | uncertain significance | 4 | 76740331 | 76740331 | Human | | name |
| 407501416 | CV3480633 | single nucleotide variant | NM_020859.4(SHROOM3):c.2815A>G (p.Thr939Ala) | not specified [RCV004669761] | uncertain significance | 4 | 76740988 | 76740988 | Human | | name |
| 407501439 | CV3480638 | single nucleotide variant | NM_020717.5(SHROOM4):c.2354C>A (p.Ser785Tyr) | not specified [RCV004669766] | uncertain significance | X | 50633719 | 50633719 | Human | | name |
| 407501450 | CV3480640 | single nucleotide variant | NM_020717.5(SHROOM4):c.1699G>A (p.Gly567Ser) | not specified [RCV004669768] | uncertain significance | X | 50634374 | 50634374 | Human | | name |
| 407501455 | CV3480641 | single nucleotide variant | NM_020717.5(SHROOM4):c.1956G>T (p.Lys652Asn) | not specified [RCV004669769] | uncertain significance | X | 50634117 | 50634117 | Human | | name |
| 407519223 | CV3480642 | single nucleotide variant | NM_020717.5(SHROOM4):c.1449G>T (p.Arg483Ser) | not specified [RCV004676399] | uncertain significance | X | 50634624 | 50634624 | Human | | name |
| 407519225 | CV3480645 | single nucleotide variant | NM_020717.5(SHROOM4):c.2453G>T (p.Cys818Phe) | not specified [RCV004676400] | uncertain significance | X | 50633620 | 50633620 | Human | | name |
| 596921749 | CV3535375 | single nucleotide variant | NM_020717.5(SHROOM4):c.1298G>A (p.Gly433Glu) | X-linked intellectual disability, Stocco dos Santos type [RCV004784930] | uncertain significance | X | 50634775 | 50634775 | Human | 1 | name |
| 597719101 | CV3598892 | single nucleotide variant | NM_001649.4(SHROOM2):c.2489G>A (p.Arg830Gln) | not specified [RCV004861835] | likely benign | X | 9896397 | 9896397 | Human | | name |
| 597719142 | CV3598897 | single nucleotide variant | NM_001649.4(SHROOM2):c.2702T>A (p.Ile901Asn) | not specified [RCV004861840] | uncertain significance | X | 9896610 | 9896610 | Human | | name |
| 597719151 | CV3598898 | single nucleotide variant | NM_001649.4(SHROOM2):c.1121A>G (p.His374Arg) | not specified [RCV004861841] | likely benign | X | 9895029 | 9895029 | Human | | name |
| 597719167 | CV3598900 | single nucleotide variant | NM_001649.4(SHROOM2):c.1673C>T (p.Ala558Val) | not specified [RCV004861843] | likely benign | X | 9895581 | 9895581 | Human | | name |
| 597719175 | CV3598901 | single nucleotide variant | NM_001649.4(SHROOM2):c.1786C>T (p.Arg596Cys) | not specified [RCV004861844] | uncertain significance | X | 9895694 | 9895694 | Human | | name |
| 597719202 | CV3598904 | single nucleotide variant | NM_001649.4(SHROOM2):c.1862G>A (p.Arg621Gln) | not specified [RCV004861847] | uncertain significance | X | 9895770 | 9895770 | Human | | name |
| 597719232 | CV3598908 | single nucleotide variant | NM_001649.4(SHROOM2):c.2099G>A (p.Arg700His) | not specified [RCV004861851] | uncertain significance | X | 9896007 | 9896007 | Human | | name |
| 597719254 | CV3598911 | single nucleotide variant | NM_001649.4(SHROOM2):c.1475C>T (p.Ala492Val) | not specified [RCV004861854] | uncertain significance | X | 9895383 | 9895383 | Human | | name |
| 597719277 | CV3598914 | single nucleotide variant | NM_001649.4(SHROOM2):c.2486C>T (p.Pro829Leu) | not specified [RCV004861857] | uncertain significance | X | 9896394 | 9896394 | Human | | name |
| 597719313 | CV3598918 | single nucleotide variant | NM_001649.4(SHROOM2):c.2324C>G (p.Thr775Arg) | not specified [RCV004861861] | uncertain significance | X | 9896232 | 9896232 | Human | | name |
| 597719330 | CV3598920 | single nucleotide variant | NM_001649.4(SHROOM2):c.1426G>A (p.Gly476Ser) | not specified [RCV004861863] | likely benign | X | 9895334 | 9895334 | Human | | name |
| 597719340 | CV3598921 | single nucleotide variant | NM_001649.4(SHROOM2):c.1717G>C (p.Asp573His) | not specified [RCV004861864] | uncertain significance | X | 9895625 | 9895625 | Human | | name |
| 597719349 | CV3598922 | single nucleotide variant | NM_001649.4(SHROOM2):c.1183G>A (p.Gly395Ser) | not specified [RCV004861865] | uncertain significance | X | 9895091 | 9895091 | Human | | name |
| 597719403 | CV3598928 | single nucleotide variant | NM_001649.4(SHROOM2):c.1801A>G (p.Ser601Gly) | not specified [RCV004861871] | uncertain significance | X | 9895709 | 9895709 | Human | | name |
| 597719411 | CV3598929 | single nucleotide variant | NM_001649.4(SHROOM2):c.2900A>T (p.Asp967Val) | not specified [RCV004861872] | uncertain significance | X | 9932183 | 9932183 | Human | | name |
| 597719419 | CV3598930 | single nucleotide variant | NM_001649.4(SHROOM2):c.1028C>T (p.Ala343Val) | not specified [RCV004861873] | likely benign | X | 9894936 | 9894936 | Human | | name |
| 597719516 | CV3598941 | single nucleotide variant | NM_020859.4(SHROOM3):c.2942C>G (p.Thr981Arg) | not specified [RCV004861884] | uncertain significance | 4 | 76741115 | 76741115 | Human | | name |
| 597719530 | CV3598943 | single nucleotide variant | NM_020859.4(SHROOM3):c.2273G>A (p.Arg758Gln) | not specified [RCV004861886] | uncertain significance | 4 | 76740446 | 76740446 | Human | | name |
| 597719584 | CV3598949 | single nucleotide variant | NM_020859.4(SHROOM3):c.1291C>G (p.Gln431Glu) | not specified [RCV004861892] | uncertain significance | 4 | 76739464 | 76739464 | Human | | name |
| 597719622 | CV3598953 | single nucleotide variant | NM_020859.4(SHROOM3):c.2167C>A (p.Pro723Thr) | not specified [RCV004861896] | uncertain significance | 4 | 76740340 | 76740340 | Human | | name |
| 597719666 | CV3598958 | single nucleotide variant | NM_020859.4(SHROOM3):c.2605G>A (p.Gly869Arg) | not specified [RCV004861901] | likely benign | 4 | 76740778 | 76740778 | Human | | name |
| 597719677 | CV3598959 | single nucleotide variant | NM_020859.4(SHROOM3):c.2933C>T (p.Ser978Phe) | not specified [RCV004861902] | uncertain significance | 4 | 76741106 | 76741106 | Human | | name |
| 597719686 | CV3598960 | single nucleotide variant | NM_020859.4(SHROOM3):c.1469T>C (p.Met490Thr) | not specified [RCV004861903] | likely benign | 4 | 76739642 | 76739642 | Human | | name |
| 597719695 | CV3598961 | single nucleotide variant | NM_020859.4(SHROOM3):c.2246C>G (p.Ser749Trp) | not specified [RCV004861904] | uncertain significance | 4 | 76740419 | 76740419 | Human | | name |
| 597719705 | CV3598962 | single nucleotide variant | NM_020859.4(SHROOM3):c.2068G>C (p.Gly690Arg) | not specified [RCV004861905] | uncertain significance | 4 | 76740241 | 76740241 | Human | | name |
| 597719774 | CV3598969 | single nucleotide variant | NM_020859.4(SHROOM3):c.2272C>T (p.Arg758Trp) | not specified [RCV004861912] | uncertain significance | 4 | 76740445 | 76740445 | Human | | name |
| 597719795 | CV3598971 | single nucleotide variant | NM_020859.4(SHROOM3):c.1051C>T (p.Pro351Ser) | not specified [RCV004861914] | uncertain significance | 4 | 76739224 | 76739224 | Human | | name |
| 597719814 | CV3598973 | single nucleotide variant | NM_020859.4(SHROOM3):c.1698G>C (p.Glu566Asp) | not specified [RCV004861916] | uncertain significance | 4 | 76739871 | 76739871 | Human | | name |
| 597719891 | CV3598981 | single nucleotide variant | NM_020717.5(SHROOM4):c.1519A>G (p.Lys507Glu) | not specified [RCV004861924] | uncertain significance | X | 50634554 | 50634554 | Human | | name |
| 597719899 | CV3598982 | single nucleotide variant | NM_020717.5(SHROOM4):c.1765G>T (p.Ala589Ser) | not specified [RCV004861925] | uncertain significance | X | 50634308 | 50634308 | Human | | name |
| 597719908 | CV3598983 | single nucleotide variant | NM_020717.5(SHROOM4):c.1117T>A (p.Cys373Ser) | not specified [RCV004861926] | uncertain significance | X | 50634956 | 50634956 | Human | | name |
| 597719917 | CV3598984 | single nucleotide variant | NM_020717.5(SHROOM4):c.1777C>T (p.Arg593Cys) | not specified [RCV004861927] | uncertain significance | X | 50634296 | 50634296 | Human | | name |
| 597719949 | CV3598987 | single nucleotide variant | NM_020717.5(SHROOM4):c.1476A>C (p.Gln492His) | not specified [RCV004861930] | uncertain significance | X | 50634597 | 50634597 | Human | | name |
| 597719960 | CV3598988 | single nucleotide variant | NM_020717.5(SHROOM4):c.1160C>T (p.Ala387Val) | not specified [RCV004861931] | uncertain significance | X | 50634913 | 50634913 | Human | | name |
| 597719968 | CV3598989 | single nucleotide variant | NM_020717.5(SHROOM4):c.2485T>C (p.Ser829Pro) | not specified [RCV004861932] | uncertain significance | X | 50633588 | 50633588 | Human | | name |
| 597719988 | CV3598991 | single nucleotide variant | NM_020717.5(SHROOM4):c.1327C>T (p.His443Tyr) | not specified [RCV004861934] | uncertain significance | X | 50634746 | 50634746 | Human | | name |
| 597720008 | CV3598993 | single nucleotide variant | NM_020717.5(SHROOM4):c.2542T>G (p.Ser848Ala) | not specified [RCV004861936] | uncertain significance | X | 50633531 | 50633531 | Human | | name |
| 597720049 | CV3598997 | single nucleotide variant | NM_020717.5(SHROOM4):c.2323A>G (p.Lys775Glu) | not specified [RCV004861940] | uncertain significance | X | 50633750 | 50633750 | Human | | name |
| 598223454 | CV3894005 | single nucleotide variant | NM_020717.5(SHROOM4):c.2913A>C (p.Lys971Asn) | not provided [RCV005257248] | uncertain significance | X | 50627658 | 50627658 | Human | | name |
| 598242278 | CV3914300 | single nucleotide variant | NM_001649.4(SHROOM2):c.2602C>T (p.Arg868Trp) | not specified [RCV005276498] | uncertain significance | X | 9896510 | 9896510 | Human | | name |
| 598242313 | CV3914307 | single nucleotide variant | NM_001649.4(SHROOM2):c.1846G>A (p.Val616Met) | not specified [RCV005276505] | uncertain significance | X | 9895754 | 9895754 | Human | | name |
| 598242318 | CV3914308 | single nucleotide variant | NM_001649.4(SHROOM2):c.2680C>A (p.Arg894Ser) | not specified [RCV005276506] | uncertain significance | X | 9896588 | 9896588 | Human | | name |
| 598242324 | CV3914309 | single nucleotide variant | NM_001649.4(SHROOM2):c.1033G>A (p.Ala345Thr) | not specified [RCV005276507] | likely benign | X | 9894941 | 9894941 | Human | | name |
| 598242329 | CV3914310 | single nucleotide variant | NM_001649.4(SHROOM2):c.1093C>T (p.Leu365Phe) | not specified [RCV005276508] | uncertain significance | X | 9895001 | 9895001 | Human | | name |
| 598242353 | CV3914315 | single nucleotide variant | NM_001649.4(SHROOM2):c.2084C>T (p.Thr695Met) | not specified [RCV005276513] | uncertain significance | X | 9895992 | 9895992 | Human | | name |
| 598242359 | CV3914316 | single nucleotide variant | NM_001649.4(SHROOM2):c.2858C>T (p.Ala953Val) | not specified [RCV005276514] | uncertain significance | X | 9898257 | 9898257 | Human | | name |
| 598242374 | CV3914319 | single nucleotide variant | NM_020859.4(SHROOM3):c.2055G>C (p.Gln685His) | not specified [RCV005276517] | uncertain significance | 4 | 76740228 | 76740228 | Human | | name |
| 598199342 | CV3914323 | single nucleotide variant | NM_020859.4(SHROOM3):c.1699G>A (p.Glu567Lys) | not specified [RCV005268380] | uncertain significance | 4 | 76739872 | 76739872 | Human | | name |
| 598242395 | CV3914324 | single nucleotide variant | NM_020859.4(SHROOM3):c.1673A>G (p.His558Arg) | not specified [RCV005276521] | uncertain significance | 4 | 76739846 | 76739846 | Human | | name |
| 598242423 | CV3914329 | single nucleotide variant | NM_020859.4(SHROOM3):c.2626C>T (p.Arg876Cys) | not specified [RCV005276526] | uncertain significance | 4 | 76740799 | 76740799 | Human | | name |
| 598242444 | CV3914333 | single nucleotide variant | NM_020859.4(SHROOM3):c.2809G>C (p.Gly937Arg) | not specified [RCV005276530] | uncertain significance | 4 | 76740982 | 76740982 | Human | | name |
| 598242450 | CV3914334 | single nucleotide variant | NM_020859.4(SHROOM3):c.2791G>T (p.Ala931Ser) | not specified [RCV005276531] | uncertain significance | 4 | 76740964 | 76740964 | Human | | name |
| 598242469 | CV3914338 | single nucleotide variant | NM_020859.4(SHROOM3):c.2228A>G (p.Glu743Gly) | not specified [RCV005276535] | uncertain significance | 4 | 76740401 | 76740401 | Human | | name |
| 598242474 | CV3914339 | single nucleotide variant | NM_020859.4(SHROOM3):c.2633C>G (p.Pro878Arg) | not specified [RCV005276536] | uncertain significance | 4 | 76740806 | 76740806 | Human | | name |
| 598242479 | CV3914341 | single nucleotide variant | NM_020859.4(SHROOM3):c.2953C>T (p.Arg985Trp) | not specified [RCV005276537] | uncertain significance | 4 | 76741126 | 76741126 | Human | | name |
| 598242491 | CV3914343 | single nucleotide variant | NM_020859.4(SHROOM3):c.2117G>A (p.Arg706Lys) | not specified [RCV005276539] | uncertain significance | 4 | 76740290 | 76740290 | Human | | name |
| 598242505 | CV3914346 | single nucleotide variant | NM_020859.4(SHROOM3):c.2704C>G (p.Pro902Ala) | not specified [RCV005276542] | likely benign | 4 | 76740877 | 76740877 | Human | | name |
| 598199357 | CV3914349 | single nucleotide variant | NM_020859.4(SHROOM3):c.2303C>T (p.Ala768Val) | not specified [RCV005268382] | uncertain significance | 4 | 76740476 | 76740476 | Human | | name |
| 598256492 | CV3914350 | single nucleotide variant | NM_020859.4(SHROOM3):c.1741A>T (p.Asn581Tyr) | not specified [RCV005279021] | uncertain significance | 4 | 76739914 | 76739914 | Human | | name |
| 598256502 | CV3914352 | single nucleotide variant | NM_020717.5(SHROOM4):c.2983T>G (p.Phe995Val) | not specified [RCV005279023] | uncertain significance | X | 50608159 | 50608159 | Human | | name |
| 598256516 | CV3914355 | single nucleotide variant | NM_020717.5(SHROOM4):c.1135G>C (p.Val379Leu) | not specified [RCV005279026] | uncertain significance | X | 50634938 | 50634938 | Human | | name |
| 598256521 | CV3914356 | single nucleotide variant | NM_020717.5(SHROOM4):c.1619G>A (p.Cys540Tyr) | not specified [RCV005279027] | uncertain significance | X | 50634454 | 50634454 | Human | | name |
| 598256526 | CV3914357 | single nucleotide variant | NM_020717.5(SHROOM4):c.1543A>T (p.Thr515Ser) | not specified [RCV005279028] | uncertain significance | X | 50634530 | 50634530 | Human | | name |
| 598256529 | CV3914358 | single nucleotide variant | NM_020717.5(SHROOM4):c.1387C>T (p.Pro463Ser) | not specified [RCV005279029] | uncertain significance | X | 50634686 | 50634686 | Human | | name |
| 598256534 | CV3914359 | single nucleotide variant | NM_020717.5(SHROOM4):c.2683G>A (p.Ala895Thr) | not specified [RCV005279030] | uncertain significance | X | 50633390 | 50633390 | Human | | name |
| 598256539 | CV3914360 | single nucleotide variant | NM_020717.5(SHROOM4):c.1577A>G (p.Gln526Arg) | not specified [RCV005279031] | uncertain significance | X | 50634496 | 50634496 | Human | | name |
| 598256564 | CV3914365 | single nucleotide variant | NM_020717.5(SHROOM4):c.1027G>A (p.Glu343Lys) | not specified [RCV005279036] | uncertain significance | X | 50635046 | 50635046 | Human | | name |
| 617150927 | CV4021978 | single nucleotide variant | NM_020717.5(SHROOM4):c.1649C>T (p.Thr550Ile) | not provided [RCV005426939] | uncertain significance | X | 50634424 | 50634424 | Human | | name |
| 13215378 | CV430827 | single nucleotide variant | NM_020717.5(SHROOM4):c.2509T>C (p.Tyr837His) | not specified [RCV000502436] | uncertain significance | X | 50633564 | 50633564 | Human | | name |
| 13216087 | CV430828 | single nucleotide variant | NM_020717.5(SHROOM4):c.1675G>A (p.Glu559Lys) | not provided [RCV000999434]|not specified [RCV000503302] | likely benign|uncertain significance | X | 50634398 | 50634398 | Human | | name |
| 13518513 | CV486485 | single nucleotide variant | NM_020717.5(SHROOM4):c.2815C>T (p.His939Tyr) | not provided [RCV000584871] | uncertain significance | X | 50633258 | 50633258 | Human | | name |
| 13518713 | CV486486 | single nucleotide variant | NM_020717.5(SHROOM4):c.2773C>T (p.Arg925Trp) | X-linked intellectual disability, Stocco dos Santos type [RCV002289883]|not provided [RCV000585042] | uncertain significance | X | 50633300 | 50633300 | Human | 1 | name |
| 14695832 | CV622494 | single nucleotide variant | NM_020717.5(SHROOM4):c.2672G>T (p.Ser891Ile) | X-linked intellectual disability, Stocco dos Santos type [RCV000785007] | uncertain significance | X | 50633401 | 50633401 | Human | 1 | name |
| 14697896 | CV623368 | single nucleotide variant | NM_020717.5(SHROOM4):c.1996G>A (p.Glu666Lys) | X-linked intellectual disability, Stocco dos Santos type [RCV000786918] | uncertain significance | X | 50634077 | 50634077 | Human | 1 | name |
| 15159830 | CV709620 | single nucleotide variant | NM_001172700.2(SHROOM1):c.963C>T (p.Thr321=) | not provided [RCV000969782] | benign | 5 | 132825178 | 132825178 | Human | | name |
| 15140292 | CV717824 | single nucleotide variant | NM_020717.5(SHROOM4):c.2497G>A (p.Ala833Thr) | not provided [RCV000966114]|not specified [RCV004029922] | benign | X | 50633576 | 50633576 | Human | | name |
| 15187775 | CV721070 | single nucleotide variant | NM_020859.4(SHROOM3):c.2153G>A (p.Arg718Gln) | not provided [RCV000887346]|not specified [RCV001724188] | benign|likely benign | 4 | 76740326 | 76740326 | Human | | name |
| 15181048 | CV734715 | single nucleotide variant | NM_020859.4(SHROOM3):c.1055G>A (p.Arg352Gln) | not provided [RCV000907497] | likely benign | 4 | 76739228 | 76739228 | Human | | name |
| 21070722 | CV798331 | single nucleotide variant | NM_020717.5(SHROOM4):c.2336A>G (p.Glu779Gly) | not provided [RCV000999433] | uncertain significance | X | 50633737 | 50633737 | Human | | name |
| 21070727 | CV798332 | single nucleotide variant | NM_020717.5(SHROOM4):c.1053C>A (p.Ser351Arg) | not provided [RCV000999435]|not specified [RCV001819712] | benign|likely benign | X | 50635020 | 50635020 | Human | | name |
| 8628755 | CV83899 | single nucleotide variant | NM_001649.2(SHROOM2):c.1192C>T (p.Pro398Ser) | Malignant melanoma [RCV000063980] | not provided | X | 9895100 | 9895100 | Human | | name |
| 8628756 | CV83900 | single nucleotide variant | NM_001649.2(SHROOM2):c.1193C>T (p.Pro398Leu) | Malignant melanoma [RCV000063981] | not provided | X | 9895101 | 9895101 | Human | | name |
| 28887056 | CV860898 | single nucleotide variant | NM_020717.5(SHROOM4):c.1229A>G (p.His410Arg) | not provided [RCV001091933] | uncertain significance | X | 50634844 | 50634844 | Human | | name |
| 38459526 | CV920039 | single nucleotide variant | NM_020717.5(SHROOM4):c.2362C>T (p.His788Tyr) | X-linked intellectual disability, Stocco dos Santos type [RCV001195911] | uncertain significance | X | 50633711 | 50633711 | Human | 1 | name |
| 38597522 | CV963985 | single nucleotide variant | NM_020717.5(SHROOM4):c.2335G>A (p.Glu779Lys) | Intellectual disability [RCV001251640] | uncertain significance | X | 50633738 | 50633738 | Human | 2 | name |
| 40815366 | CV971214 | single nucleotide variant | NM_020717.5(SHROOM4):c.2798G>A (p.Arg933Gln) | X-linked intellectual disability, Stocco dos Santos type [RCV001262700] | likely benign | X | 50633275 | 50633275 | Human | 1 | name |
| 42723679 | CV984626 | single nucleotide variant | NM_020717.5(SHROOM4):c.1165G>T (p.Ala389Ser) | X-linked intellectual disability, Stocco dos Santos type [RCV001291669] | uncertain significance | X | 50634908 | 50634908 | Human | 1 | name |
| 126734501 | CV999839 | single nucleotide variant | NM_020717.5(SHROOM4):c.1096G>A (p.Ala366Thr) | not provided [RCV001304450] | uncertain significance | X | 50634977 | 50634977 | Human | | name |
| 8642886 | CV101870 | single nucleotide variant | NM_020717.5(SHROOM4):c.4101G>T (p.Leu1367Phe) | not provided [RCV000224335]|not specified [RCV000082028] | benign | X | 50598377 | 50598377 | Human | | name |
| 126747363 | CV1019008 | single nucleotide variant | NM_020717.5(SHROOM4):c.4322G>A (p.Arg1441His) | X-linked intellectual disability, Stocco dos Santos type [RCV001331133] | uncertain significance | X | 50596855 | 50596855 | Human | 1 | name |
| 126742436 | CV1022178 | single nucleotide variant | NM_020717.5(SHROOM4):c.3541G>C (p.Glu1181Gln) | X-linked intellectual disability, Stocco dos Santos type [RCV001336506] | uncertain significance | X | 50607601 | 50607601 | Human | 1 | name |
| 150547489 | CV1292045 | single nucleotide variant | NM_020859.4(SHROOM3):c.4204G>T (p.Gly1402Cys) | not specified [RCV001733711] | uncertain significance | 4 | 76754687 | 76754687 | Human | | name |
| 151349892 | CV1325487 | single nucleotide variant | NM_020717.5(SHROOM4):c.3207C>A (p.Ser1069Arg) | not provided [RCV001814773] | uncertain significance | X | 50607935 | 50607935 | Human | | name |
| 151355960 | CV1327143 | single nucleotide variant | NM_020717.5(SHROOM4):c.3533A>G (p.Glu1178Gly) | not specified [RCV001822313] | likely benign | X | 50607609 | 50607609 | Human | | name |
| 8660687 | CV135757 | single nucleotide variant | NM_020717.5(SHROOM4):c.3611A>G (p.Glu1204Gly) | Intellectual disability [RCV001251639]|not provided [RCV000118348]|not specified [RCV004019649] | benign|uncertain significance | X | 50607531 | 50607531 | Human | 2 | name |
| 8660688 | CV135758 | single nucleotide variant | NM_020717.5(SHROOM4):c.3734C>T (p.Ser1245Leu) | not provided [RCV004713297]|not specified [RCV000118349] | benign|likely benign|conflicting interpretations of pathogenicity | X | 50607408 | 50607408 | Human | | name |
| 8660689 | CV135759 | single nucleotide variant | NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr) | Intellectual disability [RCV001251638]|See cases [RCV002251986]|not provided [RCV000118350]|not specified [RCV004019650] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | X | 50598534 | 50598534 | Human | 2 | name |
| 153305616 | CV1687727 | single nucleotide variant | NM_020717.5(SHROOM4):c.4439A>G (p.Lys1480Arg) | not provided [RCV002263548] | uncertain significance | X | 50596738 | 50596738 | Human | | name |
| 155265090 | CV1695469 | single nucleotide variant | NM_001649.4(SHROOM2):c.3811G>C (p.Glu1271Gln) | not provided [RCV002280032] | uncertain significance | X | 9937357 | 9937357 | Human | | name |
| 155265337 | CV1695530 | single nucleotide variant | NM_001649.4(SHROOM2):c.4769G>A (p.Arg1590Gln) | not provided [RCV002280262]|not specified [RCV004857895] | uncertain significance | X | 9946855 | 9946855 | Human | | name |
| 155265387 | CV1704768 | single nucleotide variant | NM_020717.5(SHROOM4):c.3919G>A (p.Asp1307Asn) | X-linked intellectual disability, Stocco dos Santos type [RCV002284994]|not specified [RCV004047581] | pathogenic|uncertain significance | X | 50602656 | 50602656 | Human | 1 | name |
| 9693343 | CV177182 | single nucleotide variant | NM_020717.5(SHROOM4):c.3211C>T (p.Arg1071Trp) | not provided [RCV000153950] | uncertain significance | X | 50607931 | 50607931 | Human | | name |
| 155663869 | CV1785835 | single nucleotide variant | NM_020717.5(SHROOM4):c.3385A>C (p.Lys1129Gln) | not specified [RCV004047880] | benign | X | 50607757 | 50607757 | Human | | name |
| 10408330 | CV209086 | single nucleotide variant | NM_020717.5(SHROOM4):c.3140C>G (p.Ala1047Gly) | not specified [RCV000193242] | uncertain significance | X | 50608002 | 50608002 | Human | | name |
| 156321172 | CV2197519 | single nucleotide variant | NM_020859.4(SHROOM3):c.4484G>A (p.Arg1495Gln) | not specified [RCV004081243] | likely benign | 4 | 76754967 | 76754967 | Human | | name |
| 155980993 | CV2212118 | single nucleotide variant | NM_001172700.2(SHROOM1):c.271G>A (p.Ala91Thr) | not specified [RCV004089020] | uncertain significance | 5 | 132825870 | 132825870 | Human | | name |
| 156380258 | CV2218087 | single nucleotide variant | NM_020859.4(SHROOM3):c.3584G>A (p.Gly1195Glu) | not specified [RCV004086522] | uncertain significance | 4 | 76741757 | 76741757 | Human | | name |
| 156224146 | CV2219280 | single nucleotide variant | NM_020859.4(SHROOM3):c.4247C>T (p.Thr1416Met) | not specified [RCV004095156] | likely benign | 4 | 76754730 | 76754730 | Human | | name |
| 156276306 | CV2230474 | single nucleotide variant | NM_020859.4(SHROOM3):c.4219G>A (p.Gly1407Ser) | not specified [RCV004097450] | likely benign | 4 | 76754702 | 76754702 | Human | | name |
| 156296468 | CV2236566 | single nucleotide variant | NM_020717.5(SHROOM4):c.4352A>G (p.Tyr1451Cys) | not specified [RCV004110559] | uncertain significance | X | 50596825 | 50596825 | Human | | name |
| 156043750 | CV2237539 | single nucleotide variant | NM_020859.4(SHROOM3):c.3470C>T (p.Pro1157Leu) | not specified [RCV004106481] | uncertain significance | 4 | 76741643 | 76741643 | Human | | name |
| 156200184 | CV2237673 | single nucleotide variant | NM_001649.4(SHROOM2):c.3176G>A (p.Arg1059Lys) | not specified [RCV004106598] | uncertain significance | X | 9932459 | 9932459 | Human | | name |
| 155921970 | CV2240610 | single nucleotide variant | NM_020859.4(SHROOM3):c.3209C>T (p.Thr1070Met) | not specified [RCV004119254] | uncertain significance | 4 | 76741382 | 76741382 | Human | | name |
| 156267384 | CV2243982 | single nucleotide variant | NM_001649.4(SHROOM2):c.4366G>A (p.Glu1456Lys) | not specified [RCV004108480] | uncertain significance | X | 9944695 | 9944695 | Human | | name |
| 155924751 | CV2248857 | single nucleotide variant | NM_001649.4(SHROOM2):c.3573T>A (p.Asp1191Glu) | not specified [RCV004115869] | uncertain significance | X | 9932856 | 9932856 | Human | | name |
| 156085875 | CV2249364 | single nucleotide variant | NM_001649.4(SHROOM2):c.3808C>T (p.Pro1270Ser) | not specified [RCV004118376] | uncertain significance | X | 9937354 | 9937354 | Human | | name |
| 156315730 | CV2250813 | single nucleotide variant | NM_001649.4(SHROOM2):c.3266T>A (p.Val1089Asp) | not specified [RCV004129673] | uncertain significance | X | 9932549 | 9932549 | Human | | name |
| 156360592 | CV2269068 | single nucleotide variant | NM_001172700.2(SHROOM1):c.292A>G (p.Thr98Ala) | not specified [RCV004130249] | uncertain significance | 5 | 132825849 | 132825849 | Human | | name |
| 11059999 | CV226993 | single nucleotide variant | NM_020717.5(SHROOM4):c.3998G>A (p.Arg1333Gln) | not specified [RCV004822017] | likely benign|uncertain significance | X | 50598480 | 50598480 | Human | | name |
| 156332933 | CV2270434 | single nucleotide variant | NM_020859.4(SHROOM3):c.5884C>A (p.Pro1962Thr) | not specified [RCV004137404] | uncertain significance | 4 | 76779070 | 76779070 | Human | | name |
| 156253395 | CV2284049 | single nucleotide variant | NM_001649.4(SHROOM2):c.3478C>G (p.Arg1160Gly) | not specified [RCV004144655] | uncertain significance | X | 9932761 | 9932761 | Human | | name |
| 156237966 | CV2285845 | single nucleotide variant | NM_001649.4(SHROOM2):c.3661C>A (p.Pro1221Thr) | not specified [RCV004143788] | uncertain significance | X | 9937207 | 9937207 | Human | | name |
| 156345069 | CV2290915 | single nucleotide variant | NM_020859.4(SHROOM3):c.4777G>A (p.Gly1593Ser) | not specified [RCV004151478] | uncertain significance | 4 | 76756516 | 76756516 | Human | | name |
| 156017231 | CV2295537 | single nucleotide variant | NM_001649.4(SHROOM2):c.3571G>A (p.Asp1191Asn) | not specified [RCV004160637] | uncertain significance | X | 9932854 | 9932854 | Human | | name |
| 156072467 | CV2295966 | single nucleotide variant | NM_001172700.2(SHROOM1):c.269C>T (p.Ala90Val) | not specified [RCV004151858] | uncertain significance | 5 | 132825872 | 132825872 | Human | | name |
| 156296449 | CV2297575 | single nucleotide variant | NM_001649.4(SHROOM2):c.3322C>T (p.Arg1108Cys) | not specified [RCV004155278] | uncertain significance | X | 9932605 | 9932605 | Human | | name |
| 156148232 | CV2307329 | single nucleotide variant | NM_020859.4(SHROOM3):c.5470G>A (p.Glu1824Lys) | not specified [RCV004166017] | uncertain significance | 4 | 76770746 | 76770746 | Human | | name |
| 156351846 | CV2323846 | single nucleotide variant | NM_001172700.2(SHROOM1):c.275G>C (p.Arg92Pro) | not specified [RCV004176379] | uncertain significance | 5 | 132825866 | 132825866 | Human | | name |
| 156284243 | CV2334747 | single nucleotide variant | NM_020717.5(SHROOM4):c.3308G>A (p.Arg1103His) | not specified [RCV004188725] | uncertain significance | X | 50607834 | 50607834 | Human | | name |
| 155978899 | CV2335226 | single nucleotide variant | NM_020859.4(SHROOM3):c.4390C>T (p.Pro1464Ser) | not specified [RCV004186796] | uncertain significance | 4 | 76754873 | 76754873 | Human | | name |
| 156291294 | CV2342863 | single nucleotide variant | NM_020717.5(SHROOM4):c.4282G>A (p.Val1428Met) | not specified [RCV004189898] | uncertain significance | X | 50596895 | 50596895 | Human | | name |
| 156242127 | CV2346974 | single nucleotide variant | NM_001649.4(SHROOM2):c.3065C>T (p.Ser1022Leu) | not specified [RCV004202419] | uncertain significance | X | 9932348 | 9932348 | Human | | name |
| 155905480 | CV2349774 | single nucleotide variant | NM_001649.4(SHROOM2):c.3050G>A (p.Arg1017Gln) | not specified [RCV004204186] | uncertain significance | X | 9932333 | 9932333 | Human | | name |
| 156346336 | CV2353510 | single nucleotide variant | NM_020859.4(SHROOM3):c.4382A>G (p.Gln1461Arg) | not specified [RCV004199495] | uncertain significance | 4 | 76754865 | 76754865 | Human | | name |
| 156141730 | CV2358433 | single nucleotide variant | NM_020717.5(SHROOM4):c.3758C>T (p.Ala1253Val) | not specified [RCV004207326] | uncertain significance | X | 50607384 | 50607384 | Human | | name |
| 156284758 | CV2360693 | single nucleotide variant | NM_020859.4(SHROOM3):c.4601C>T (p.Pro1534Leu) | not specified [RCV004213486] | likely benign | 4 | 76755084 | 76755084 | Human | | name |
| 156383264 | CV2361473 | single nucleotide variant | NM_020859.4(SHROOM3):c.5648T>C (p.Ile1883Thr) | not specified [RCV004221113] | uncertain significance | 4 | 76778834 | 76778834 | Human | | name |
| 11350818 | CV237189 | single nucleotide variant | NM_020717.5(SHROOM4):c.3147G>A (p.Met1049Ile) | History of neurodevelopmental disorder [RCV000720941]|not provided [RCV000224464] | benign | X | 50607995 | 50607995 | Human | | name |
| 155992357 | CV2379303 | single nucleotide variant | NM_001649.4(SHROOM2):c.4411G>A (p.Glu1471Lys) | not specified [RCV004223770] | uncertain significance | X | 9944740 | 9944740 | Human | | name |
| 156061870 | CV2380297 | single nucleotide variant | NM_020859.4(SHROOM3):c.3559G>C (p.Asp1187His) | not specified [RCV004224647] | uncertain significance | 4 | 76741732 | 76741732 | Human | | name |
| 156134392 | CV2383143 | single nucleotide variant | NM_020859.4(SHROOM3):c.3686C>G (p.Ser1229Trp) | not specified [RCV004219758] | uncertain significance | 4 | 76741859 | 76741859 | Human | | name |
| 156348334 | CV2384936 | single nucleotide variant | NM_020859.4(SHROOM3):c.3253G>A (p.Ala1085Thr) | not specified [RCV004226173] | uncertain significance | 4 | 76741426 | 76741426 | Human | | name |
| 155940094 | CV2386714 | single nucleotide variant | NM_020717.5(SHROOM4):c.3277G>A (p.Gly1093Arg) | not specified [RCV004233408] | uncertain significance | X | 50607865 | 50607865 | Human | | name |
| 156267360 | CV2389295 | single nucleotide variant | NM_020859.4(SHROOM3):c.4433C>T (p.Ala1478Val) | not specified [RCV004235609] | uncertain significance | 4 | 76754916 | 76754916 | Human | | name |
| 155927803 | CV2391536 | single nucleotide variant | NM_020859.4(SHROOM3):c.4850T>C (p.Phe1617Ser) | not specified [RCV004239921] | uncertain significance | 4 | 76756589 | 76756589 | Human | | name |
| 155958784 | CV2395257 | single nucleotide variant | NM_020859.4(SHROOM3):c.4562C>G (p.Pro1521Arg) | not specified [RCV004238966] | uncertain significance | 4 | 76755045 | 76755045 | Human | | name |
| 156255165 | CV2397622 | single nucleotide variant | NM_020717.5(SHROOM4):c.3442G>A (p.Glu1148Lys) | not specified [RCV004237075] | uncertain significance | X | 50607700 | 50607700 | Human | | name |
| 156451073 | CV2402450 | single nucleotide variant | NM_001649.4(SHROOM2):c.4121C>T (p.Pro1374Leu) | not provided [RCV003123251] | uncertain significance | X | 9937667 | 9937667 | Human | | name |
| 243050710 | CV2415561 | single nucleotide variant | NM_020717.5(SHROOM4):c.3166C>T (p.Arg1056Cys) | X-linked intellectual disability, Stocco dos Santos type [RCV003148159] | uncertain significance | X | 50607976 | 50607976 | Human | 1 | name |
| 329370868 | CV2435711 | single nucleotide variant | NM_001649.4(SHROOM2):c.3209G>A (p.Arg1070His) | not specified [RCV004254943] | uncertain significance | X | 9932492 | 9932492 | Human | | name |
| 329353720 | CV2439585 | single nucleotide variant | NM_001649.4(SHROOM2):c.3025C>T (p.Arg1009Trp) | not specified [RCV004255605] | uncertain significance | X | 9932308 | 9932308 | Human | | name |
| 329365918 | CV2441232 | single nucleotide variant | NM_001649.4(SHROOM2):c.4105C>A (p.Pro1369Thr) | not specified [RCV004263621] | uncertain significance | X | 9937651 | 9937651 | Human | | name |
| 329400436 | CV2441665 | single nucleotide variant | NM_020859.4(SHROOM3):c.4412A>C (p.Asp1471Ala) | not specified [RCV004259484] | uncertain significance | 4 | 76754895 | 76754895 | Human | | name |
| 329372586 | CV2443179 | single nucleotide variant | NM_001649.4(SHROOM2):c.4294G>A (p.Asp1432Asn) | not specified [RCV004255372] | uncertain significance | X | 9939349 | 9939349 | Human | | name |
| 329352219 | CV2452149 | single nucleotide variant | NM_020717.5(SHROOM4):c.4310G>A (p.Gly1437Asp) | not specified [RCV004278863] | uncertain significance | X | 50596867 | 50596867 | Human | | name |
| 329372499 | CV2455241 | single nucleotide variant | NM_020717.5(SHROOM4):c.3832A>G (p.Asn1278Asp) | not specified [RCV004274460] | uncertain significance | X | 50602743 | 50602743 | Human | | name |
| 329401789 | CV2457420 | single nucleotide variant | NM_020859.4(SHROOM3):c.5807G>A (p.Arg1936Gln) | not specified [RCV004267246] | uncertain significance | 4 | 76778993 | 76778993 | Human | | name |
| 329394708 | CV2461541 | single nucleotide variant | NM_001649.4(SHROOM2):c.3172A>G (p.Lys1058Glu) | not specified [RCV004269458] | uncertain significance | X | 9932455 | 9932455 | Human | | name |
| 329394273 | CV2469787 | single nucleotide variant | NM_020717.5(SHROOM4):c.3939A>T (p.Lys1313Asn) | not specified [RCV004285285] | uncertain significance | X | 50602636 | 50602636 | Human | | name |
| 329352813 | CV2470559 | single nucleotide variant | NM_001649.4(SHROOM2):c.4019T>C (p.Ile1340Thr) | not specified [RCV004273563] | uncertain significance | X | 9937565 | 9937565 | Human | | name |
| 329376614 | CV2472268 | single nucleotide variant | NM_001649.4(SHROOM2):c.3464A>T (p.Lys1155Met) | not specified [RCV004283374] | uncertain significance | X | 9932747 | 9932747 | Human | | name |
| 8561917 | CV25834 | single nucleotide variant | NM_020717.5(SHROOM4):c.3266C>T (p.Ser1089Leu) | X-linked intellectual disability, Stocco dos Santos type [RCV000011542] | pathogenic|uncertain significance | X | 50607876 | 50607876 | Human | 1 | name |
| 11633065 | CV265033 | single nucleotide variant | NM_020717.5(SHROOM4):c.3739C>T (p.Gln1247Ter) | not provided [RCV000308203] | pathogenic|uncertain significance|no classifications from unflagged records | X | 50607403 | 50607403 | Human | | name |
| 401731493 | CV2674392 | single nucleotide variant | NM_001649.4(SHROOM2):c.3401G>A (p.Arg1134His) | not specified [RCV004289262] | uncertain significance | X | 9932684 | 9932684 | Human | | name |
| 401743363 | CV2674643 | single nucleotide variant | NM_020859.4(SHROOM3):c.4616C>T (p.Pro1539Leu) | not specified [RCV004293939] | likely benign | 4 | 76755099 | 76755099 | Human | | name |
| 401741542 | CV2677382 | single nucleotide variant | NM_001649.4(SHROOM2):c.3421G>A (p.Gly1141Arg) | not specified [RCV004289463] | uncertain significance | X | 9932704 | 9932704 | Human | | name |
| 401746948 | CV2678968 | single nucleotide variant | NM_020859.4(SHROOM3):c.4775T>C (p.Val1592Ala) | not specified [RCV004294981] | uncertain significance | 4 | 76756514 | 76756514 | Human | | name |
| 401719084 | CV2679412 | single nucleotide variant | NM_001649.4(SHROOM2):c.3880C>T (p.Arg1294Cys) | not specified [RCV004285939] | uncertain significance | X | 9937426 | 9937426 | Human | | name |
| 401727286 | CV2684551 | single nucleotide variant | NM_001649.4(SHROOM2):c.3966G>C (p.Glu1322Asp) | not specified [RCV004293662] | uncertain significance | X | 9937512 | 9937512 | Human | | name |
| 401782286 | CV2686655 | single nucleotide variant | NM_001649.4(SHROOM2):c.3533C>G (p.Pro1178Arg) | not specified [RCV004300068] | uncertain significance | X | 9932816 | 9932816 | Human | | name |
| 401731990 | CV2690247 | single nucleotide variant | NM_020859.4(SHROOM3):c.5921C>T (p.Thr1974Met) | not specified [RCV004302252] | uncertain significance | 4 | 76779107 | 76779107 | Human | | name |
| 401749436 | CV2694648 | single nucleotide variant | NM_020859.4(SHROOM3):c.3913A>G (p.Lys1305Glu) | not specified [RCV004298759] | uncertain significance | 4 | 76754396 | 76754396 | Human | | name |
| 401741507 | CV2697564 | single nucleotide variant | NM_001649.4(SHROOM2):c.3238G>A (p.Gly1080Ser) | not specified [RCV004298320] | likely benign | X | 9932521 | 9932521 | Human | | name |
| 401721552 | CV2710024 | single nucleotide variant | NM_020717.5(SHROOM4):c.4109G>A (p.Gly1370Glu) | not specified [RCV004315086] | uncertain significance | X | 50598369 | 50598369 | Human | | name |
| 401730723 | CV2711463 | single nucleotide variant | NM_020859.4(SHROOM3):c.4199C>T (p.Pro1400Leu) | not specified [RCV004306786] | uncertain significance | 4 | 76754682 | 76754682 | Human | | name |
| 401753860 | CV2719091 | single nucleotide variant | NM_020859.4(SHROOM3):c.5713G>T (p.Val1905Leu) | not specified [RCV004322976] | uncertain significance | 4 | 76778899 | 76778899 | Human | | name |
| 401729647 | CV2733211 | single nucleotide variant | NM_001649.4(SHROOM2):c.4576G>A (p.Gly1526Ser) | not specified [RCV004332129] | uncertain significance | X | 9944905 | 9944905 | Human | | name |
| 401856011 | CV2754214 | single nucleotide variant | NM_020859.4(SHROOM3):c.3508C>T (p.Arg1170Cys) | not specified [RCV004334403] | uncertain significance | 4 | 76741681 | 76741681 | Human | | name |
| 401879308 | CV2758267 | single nucleotide variant | NM_001649.4(SHROOM2):c.4168G>A (p.Val1390Met) | not specified [RCV004341625] | uncertain significance | X | 9939223 | 9939223 | Human | | name |
| 401865191 | CV2768701 | single nucleotide variant | NM_020859.4(SHROOM3):c.4708A>G (p.Ser1570Gly) | not specified [RCV004344546] | uncertain significance | 4 | 76755191 | 76755191 | Human | | name |
| 401874531 | CV2774019 | single nucleotide variant | NM_020859.4(SHROOM3):c.3698C>T (p.Ala1233Val) | not specified [RCV004358425] | uncertain significance | 4 | 76741871 | 76741871 | Human | | name |
| 401892025 | CV2775890 | single nucleotide variant | NM_020859.4(SHROOM3):c.4417G>A (p.Asp1473Asn) | not specified [RCV004344921] | uncertain significance | 4 | 76754900 | 76754900 | Human | | name |
| 401863343 | CV2776773 | single nucleotide variant | NM_020859.4(SHROOM3):c.5603A>G (p.Asp1868Gly) | not specified [RCV004357922] | uncertain significance | 4 | 76770879 | 76770879 | Human | | name |
| 401876230 | CV2777716 | single nucleotide variant | NM_001649.4(SHROOM2):c.3529G>A (p.Ala1177Thr) | not specified [RCV004345552] | uncertain significance | X | 9932812 | 9932812 | Human | | name |
| 401890723 | CV2778315 | single nucleotide variant | NM_001649.4(SHROOM2):c.3380C>T (p.Pro1127Leu) | not specified [RCV004350368] | uncertain significance | X | 9932663 | 9932663 | Human | | name |
| 401890498 | CV2778802 | single nucleotide variant | NM_020859.4(SHROOM3):c.3571G>A (p.Gly1191Arg) | not specified [RCV004346702] | uncertain significance | 4 | 76741744 | 76741744 | Human | | name |
| 401897519 | CV2787125 | single nucleotide variant | NM_001649.4(SHROOM2):c.3537G>C (p.Gln1179His) | not specified [RCV004360559] | uncertain significance | X | 9932820 | 9932820 | Human | | name |
| 401875360 | CV2789029 | single nucleotide variant | NM_001649.4(SHROOM2):c.3553C>A (p.Pro1185Thr) | not specified [RCV004363335] | uncertain significance | X | 9932836 | 9932836 | Human | | name |
| 401928212 | CV2822597 | single nucleotide variant | NM_020859.4(SHROOM3):c.3812C>G (p.Ala1271Gly) | not provided [RCV003439355] | uncertain significance | 4 | 76749075 | 76749075 | Human | | name |
| 401928214 | CV2822598 | single nucleotide variant | NM_020859.4(SHROOM3):c.4192C>T (p.Pro1398Ser) | not provided [RCV003439356] | likely benign | 4 | 76754675 | 76754675 | Human | | name |
| 401917847 | CV2827994 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1083C>T (p.Pro361=) | not provided [RCV003429765] | likely benign | 5 | 132824773 | 132824773 | Human | | name |
| 401927034 | CV2828949 | single nucleotide variant | NM_020717.5(SHROOM4):c.4030G>T (p.Ala1344Ser) | not provided [RCV003438330] | uncertain significance | X | 50598448 | 50598448 | Human | | name |
| 401927036 | CV2828950 | single nucleotide variant | NM_020717.5(SHROOM4):c.3774G>T (p.Gln1258His) | not provided [RCV003438331] | likely benign | X | 50602801 | 50602801 | Human | | name |
| 405867074 | CV2842589 | single nucleotide variant | NM_020859.4(SHROOM3):c.3385G>A (p.Glu1129Lys) | EBV-positive nodal T- and NK-cell lymphoma [RCV004557946] | likely benign | 4 | 76741558 | 76741558 | Human | | name |
| 404993569 | CV2851008 | single nucleotide variant | NM_001649.4(SHROOM2):c.4718C>T (p.Ala1573Val) | not provided [RCV003491479] | uncertain significance | X | 9946804 | 9946804 | Human | | name |
| 404993596 | CV2851011 | single nucleotide variant | NM_020717.5(SHROOM4):c.3317C>T (p.Pro1106Leu) | not provided [RCV003491482] | uncertain significance | X | 50607825 | 50607825 | Human | | name |
| 404993603 | CV2851012 | single nucleotide variant | NM_020717.5(SHROOM4):c.3160C>T (p.Arg1054Cys) | not provided [RCV003491483] | uncertain significance | X | 50607982 | 50607982 | Human | | name |
| 404993609 | CV2851013 | single nucleotide variant | NM_020717.5(SHROOM4):c.3044A>G (p.Tyr1015Cys) | not provided [RCV003491484] | uncertain significance | X | 50608098 | 50608098 | Human | | name |
| 404993613 | CV2851014 | single nucleotide variant | NM_020717.5(SHROOM4):c.4201A>C (p.Asn1401His) | not provided [RCV003491485] | uncertain significance | X | 50598277 | 50598277 | Human | | name |
| 404993627 | CV2851016 | single nucleotide variant | NM_020717.5(SHROOM4):c.3370C>G (p.Gln1124Glu) | not provided [RCV003491487] | uncertain significance | X | 50607772 | 50607772 | Human | | name |
| 405733217 | CV3311255 | single nucleotide variant | NM_001649.4(SHROOM2):c.3125A>G (p.His1042Arg) | not specified [RCV004451297] | uncertain significance | X | 9932408 | 9932408 | Human | | name |
| 405733225 | CV3311256 | single nucleotide variant | NM_001649.4(SHROOM2):c.3604G>A (p.Asp1202Asn) | not specified [RCV004451298] | uncertain significance | X | 9937150 | 9937150 | Human | | name |
| 405733239 | CV3311258 | single nucleotide variant | NM_001649.4(SHROOM2):c.3752G>A (p.Ser1251Asn) | not specified [RCV004451300] | uncertain significance | X | 9937298 | 9937298 | Human | | name |
| 405733246 | CV3311259 | single nucleotide variant | NM_001649.4(SHROOM2):c.4355G>A (p.Arg1452Gln) | not specified [RCV004451301] | uncertain significance | X | 9944684 | 9944684 | Human | | name |
| 405733253 | CV3311260 | single nucleotide variant | NM_001649.4(SHROOM2):c.4746G>T (p.Lys1582Asn) | not specified [RCV004451302] | uncertain significance | X | 9946832 | 9946832 | Human | | name |
| 405733405 | CV3311281 | single nucleotide variant | NM_020859.4(SHROOM3):c.3004G>A (p.Ala1002Thr) | not specified [RCV004451323] | uncertain significance | 4 | 76741177 | 76741177 | Human | | name |
| 405733415 | CV3311282 | single nucleotide variant | NM_020859.4(SHROOM3):c.3121G>T (p.Gly1041Cys) | not specified [RCV004451324] | uncertain significance | 4 | 76741294 | 76741294 | Human | | name |
| 405733422 | CV3311283 | single nucleotide variant | NM_020859.4(SHROOM3):c.3134A>G (p.Asn1045Ser) | not specified [RCV004451325] | uncertain significance | 4 | 76741307 | 76741307 | Human | | name |
| 405733429 | CV3311284 | single nucleotide variant | NM_020859.4(SHROOM3):c.3136G>A (p.Gly1046Arg) | not specified [RCV004451326] | uncertain significance | 4 | 76741309 | 76741309 | Human | | name |
| 405748334 | CV3311285 | single nucleotide variant | NM_020859.4(SHROOM3):c.3188G>C (p.Arg1063Pro) | not specified [RCV004453397] | uncertain significance | 4 | 76741361 | 76741361 | Human | | name |
| 405748347 | CV3311287 | single nucleotide variant | NM_020859.4(SHROOM3):c.3340G>A (p.Glu1114Lys) | not specified [RCV004453399] | uncertain significance | 4 | 76741513 | 76741513 | Human | | name |
| 405748354 | CV3311288 | single nucleotide variant | NM_020859.4(SHROOM3):c.3361C>T (p.Leu1121Phe) | not specified [RCV004453400] | uncertain significance | 4 | 76741534 | 76741534 | Human | | name |
| 405748361 | CV3311289 | single nucleotide variant | NM_020859.4(SHROOM3):c.3953G>T (p.Gly1318Val) | not specified [RCV004453401] | uncertain significance | 4 | 76754436 | 76754436 | Human | | name |
| 405748373 | CV3311291 | single nucleotide variant | NM_020859.4(SHROOM3):c.4216G>A (p.Asp1406Asn) | not specified [RCV004453403] | likely benign | 4 | 76754699 | 76754699 | Human | | name |
| 405748380 | CV3311292 | single nucleotide variant | NM_020859.4(SHROOM3):c.4353T>A (p.Phe1451Leu) | not specified [RCV004453404] | uncertain significance | 4 | 76754836 | 76754836 | Human | | name |
| 405748394 | CV3311294 | single nucleotide variant | NM_020859.4(SHROOM3):c.4387C>G (p.Leu1463Val) | not specified [RCV004453406] | uncertain significance | 4 | 76754870 | 76754870 | Human | | name |
| 405748401 | CV3311295 | single nucleotide variant | NM_020859.4(SHROOM3):c.4438A>G (p.Ser1480Gly) | not specified [RCV004453407] | uncertain significance | 4 | 76754921 | 76754921 | Human | | name |
| 405748408 | CV3311296 | single nucleotide variant | NM_020859.4(SHROOM3):c.4468T>C (p.Ser1490Pro) | not specified [RCV004453408] | uncertain significance | 4 | 76754951 | 76754951 | Human | | name |
| 405748416 | CV3311297 | single nucleotide variant | NM_020859.4(SHROOM3):c.5011T>G (p.Leu1671Val) | not specified [RCV004453409] | uncertain significance | 4 | 76756750 | 76756750 | Human | | name |
| 405748424 | CV3311298 | single nucleotide variant | NM_020859.4(SHROOM3):c.5111C>A (p.Pro1704His) | not specified [RCV004453410] | uncertain significance | 4 | 76756850 | 76756850 | Human | | name |
| 405748431 | CV3311299 | single nucleotide variant | NM_020859.4(SHROOM3):c.5186G>A (p.Cys1729Tyr) | not specified [RCV004453411] | uncertain significance | 4 | 76756925 | 76756925 | Human | | name |
| 405748435 | CV3311300 | single nucleotide variant | NM_020859.4(SHROOM3):c.5417C>T (p.Thr1806Met) | not specified [RCV004453412] | likely benign | 4 | 76770693 | 76770693 | Human | | name |
| 405748444 | CV3311301 | single nucleotide variant | NM_020859.4(SHROOM3):c.5619A>T (p.Glu1873Asp) | not specified [RCV004453413] | uncertain significance | 4 | 76770895 | 76770895 | Human | | name |
| 405748450 | CV3311302 | single nucleotide variant | NM_020859.4(SHROOM3):c.5675G>A (p.Arg1892Gln) | not specified [RCV004453414] | uncertain significance | 4 | 76778861 | 76778861 | Human | | name |
| 405748456 | CV3311303 | single nucleotide variant | NM_020859.4(SHROOM3):c.5936C>T (p.Pro1979Leu) | not specified [RCV004453415] | uncertain significance | 4 | 76779122 | 76779122 | Human | | name |
| 405748461 | CV3311304 | single nucleotide variant | NM_020859.4(SHROOM3):c.5950A>G (p.Thr1984Ala) | not specified [RCV004453416] | uncertain significance | 4 | 76779136 | 76779136 | Human | | name |
| 405748574 | CV3311320 | single nucleotide variant | NM_020717.5(SHROOM4):c.3237G>C (p.Glu1079Asp) | not specified [RCV004453432] | uncertain significance | X | 50607905 | 50607905 | Human | | name |
| 405748582 | CV3311321 | single nucleotide variant | NM_020717.5(SHROOM4):c.3601G>A (p.Val1201Ile) | not specified [RCV004453433] | uncertain significance | X | 50607541 | 50607541 | Human | | name |
| 405866629 | CV3401034 | single nucleotide variant | NM_020717.5(SHROOM4):c.4388T>C (p.Ile1463Thr) | X-linked intellectual disability, Stocco dos Santos type [RCV004577150] | uncertain significance | X | 50596789 | 50596789 | Human | 1 | name |
| 407519208 | CV3480592 | single nucleotide variant | NM_001172700.2(SHROOM1):c.163C>T (p.Leu55Phe) | not specified [RCV004676391] | uncertain significance | 5 | 132825978 | 132825978 | Human | | name |
| 407501164 | CV3480600 | single nucleotide variant | NM_001649.4(SHROOM2):c.4184A>G (p.Asn1395Ser) | not specified [RCV004669732] | uncertain significance | X | 9939239 | 9939239 | Human | | name |
| 407519214 | CV3480602 | single nucleotide variant | NM_001649.4(SHROOM2):c.3847C>A (p.Pro1283Thr) | not specified [RCV004676395] | uncertain significance | X | 9937393 | 9937393 | Human | | name |
| 407501173 | CV3480603 | single nucleotide variant | NM_001649.4(SHROOM2):c.3038G>A (p.Gly1013Glu) | not specified [RCV004669734] | uncertain significance | X | 9932321 | 9932321 | Human | | name |
| 407519218 | CV3480606 | single nucleotide variant | NM_001649.4(SHROOM2):c.4118C>A (p.Ser1373Tyr) | not specified [RCV004676397] | uncertain significance | X | 9937664 | 9937664 | Human | | name |
| 407501188 | CV3480608 | single nucleotide variant | NM_001649.4(SHROOM2):c.3062A>C (p.Tyr1021Ser) | not specified [RCV004669737] | uncertain significance | X | 9932345 | 9932345 | Human | | name |
| 407501198 | CV3480610 | single nucleotide variant | NM_001649.4(SHROOM2):c.4109A>G (p.Lys1370Arg) | not specified [RCV004669739] | uncertain significance | X | 9937655 | 9937655 | Human | | name |
| 407501204 | CV3480611 | single nucleotide variant | NM_020859.4(SHROOM3):c.3355G>A (p.Ala1119Thr) | not specified [RCV004669740] | uncertain significance | 4 | 76741528 | 76741528 | Human | | name |
| 407501355 | CV3480619 | single nucleotide variant | NM_020859.4(SHROOM3):c.4234G>T (p.Val1412Leu) | not specified [RCV004669748] | uncertain significance | 4 | 76754717 | 76754717 | Human | | name |
| 407501360 | CV3480620 | single nucleotide variant | NM_020859.4(SHROOM3):c.5375A>G (p.His1792Arg) | not specified [RCV004669749] | uncertain significance | 4 | 76770651 | 76770651 | Human | | name |
| 407501364 | CV3480621 | single nucleotide variant | NM_020859.4(SHROOM3):c.3127C>G (p.Gln1043Glu) | not specified [RCV004669750] | uncertain significance | 4 | 76741300 | 76741300 | Human | | name |
| 407501378 | CV3480624 | single nucleotide variant | NM_020859.4(SHROOM3):c.3988C>A (p.Pro1330Thr) | not specified [RCV004669753] | uncertain significance | 4 | 76754471 | 76754471 | Human | | name |
| 407501384 | CV3480625 | single nucleotide variant | NM_020859.4(SHROOM3):c.3883C>G (p.Leu1295Val) | not specified [RCV004669754] | uncertain significance | 4 | 76754366 | 76754366 | Human | | name |
| 407501402 | CV3480629 | single nucleotide variant | NM_020859.4(SHROOM3):c.3400G>A (p.Ala1134Thr) | not specified [RCV004669758] | likely benign | 4 | 76741573 | 76741573 | Human | | name |
| 407501406 | CV3480630 | single nucleotide variant | NM_020859.4(SHROOM3):c.3401C>A (p.Ala1134Asp) | not specified [RCV004669759] | uncertain significance | 4 | 76741574 | 76741574 | Human | | name |
| 407501411 | CV3480631 | single nucleotide variant | NM_020859.4(SHROOM3):c.4388T>A (p.Leu1463His) | not specified [RCV004669760] | uncertain significance | 4 | 76754871 | 76754871 | Human | | name |
| 407501422 | CV3480634 | single nucleotide variant | NM_020859.4(SHROOM3):c.5935C>T (p.Pro1979Ser) | not specified [RCV004669762] | uncertain significance | 4 | 76779121 | 76779121 | Human | | name |
| 407501426 | CV3480635 | single nucleotide variant | NM_020859.4(SHROOM3):c.3635G>C (p.Trp1212Ser) | not specified [RCV004669763] | uncertain significance | 4 | 76741808 | 76741808 | Human | | name |
| 407501430 | CV3480636 | single nucleotide variant | NM_020859.4(SHROOM3):c.5158A>G (p.Ile1720Val) | not specified [RCV004669764] | uncertain significance | 4 | 76756897 | 76756897 | Human | | name |
| 407501446 | CV3480639 | single nucleotide variant | NM_020717.5(SHROOM4):c.3052A>G (p.Ile1018Val) | not specified [RCV004669767] | likely benign | X | 50608090 | 50608090 | Human | | name |
| 407501460 | CV3480643 | single nucleotide variant | NM_020717.5(SHROOM4):c.4247G>T (p.Gly1416Val) | not specified [RCV004669770] | uncertain significance | X | 50596930 | 50596930 | Human | | name |
| 407501465 | CV3480644 | single nucleotide variant | NM_020717.5(SHROOM4):c.3215C>T (p.Ala1072Val) | not specified [RCV004669771] | uncertain significance | X | 50607927 | 50607927 | Human | | name |
| 407501593 | CV3495612 | single nucleotide variant | NM_020717.5(SHROOM4):c.4456C>G (p.Leu1486Val) | not provided [RCV004697452] | uncertain significance | X | 50596721 | 50596721 | Human | | name |
| 597719066 | CV3598888 | single nucleotide variant | NM_001172700.2(SHROOM1):c.184T>G (p.Tyr62Asp) | not specified [RCV004861831] | uncertain significance | 5 | 132825957 | 132825957 | Human | | name |
| 597719076 | CV3598889 | single nucleotide variant | NM_001172700.2(SHROOM1):c.184T>C (p.Tyr62His) | not specified [RCV004861832] | uncertain significance | 5 | 132825957 | 132825957 | Human | | name |
| 597719083 | CV3598890 | single nucleotide variant | NM_001172700.2(SHROOM1):c.250C>T (p.Arg84Trp) | not specified [RCV004861833] | uncertain significance | 5 | 132825891 | 132825891 | Human | | name |
| 597719159 | CV3598899 | single nucleotide variant | NM_001649.4(SHROOM2):c.3814G>T (p.Ala1272Ser) | not specified [RCV004861842] | uncertain significance | X | 9937360 | 9937360 | Human | | name |
| 597719184 | CV3598902 | single nucleotide variant | NM_001649.4(SHROOM2):c.4156G>A (p.Val1386Met) | not specified [RCV004861845] | uncertain significance | X | 9939211 | 9939211 | Human | | name |
| 597719209 | CV3598905 | single nucleotide variant | NM_001649.4(SHROOM2):c.3479G>A (p.Arg1160His) | not specified [RCV004861848] | uncertain significance | X | 9932762 | 9932762 | Human | | name |
| 597719225 | CV3598907 | single nucleotide variant | NM_001649.4(SHROOM2):c.3614C>A (p.Thr1205Asn) | not specified [RCV004861850] | uncertain significance | X | 9937160 | 9937160 | Human | | name |
| 597719238 | CV3598909 | single nucleotide variant | NM_001649.4(SHROOM2):c.4363C>T (p.Arg1455Cys) | not specified [RCV004861852] | uncertain significance | X | 9944692 | 9944692 | Human | | name |
| 597719295 | CV3598916 | single nucleotide variant | NM_001649.4(SHROOM2):c.4294G>C (p.Asp1432His) | not specified [RCV004861859] | uncertain significance | X | 9939349 | 9939349 | Human | | name |
| 597719304 | CV3598917 | single nucleotide variant | NM_001649.4(SHROOM2):c.3439C>G (p.Leu1147Val) | not specified [RCV004861860] | uncertain significance | X | 9932722 | 9932722 | Human | | name |
| 597719321 | CV3598919 | single nucleotide variant | NM_001649.4(SHROOM2):c.3986C>T (p.Ser1329Phe) | not specified [RCV004861862] | uncertain significance | X | 9937532 | 9937532 | Human | | name |
| 597719386 | CV3598926 | single nucleotide variant | NM_001649.4(SHROOM2):c.4267G>A (p.Glu1423Lys) | not specified [RCV004861869] | uncertain significance | X | 9939322 | 9939322 | Human | | name |
| 597719435 | CV3598932 | single nucleotide variant | NM_020859.4(SHROOM3):c.4465A>G (p.Ile1489Val) | not specified [RCV004861875] | uncertain significance | 4 | 76754948 | 76754948 | Human | | name |
| 597719454 | CV3598934 | single nucleotide variant | NM_020859.4(SHROOM3):c.3934G>A (p.Val1312Ile) | not specified [RCV004861877] | uncertain significance | 4 | 76754417 | 76754417 | Human | | name |
| 597719465 | CV3598935 | single nucleotide variant | NM_020859.4(SHROOM3):c.3163G>A (p.Ala1055Thr) | not specified [RCV004861878] | uncertain significance | 4 | 76741336 | 76741336 | Human | | name |
| 597719475 | CV3598936 | single nucleotide variant | NM_020859.4(SHROOM3):c.4061T>C (p.Ile1354Thr) | not specified [RCV004861879] | uncertain significance | 4 | 76754544 | 76754544 | Human | | name |
| 597719484 | CV3598937 | single nucleotide variant | NM_020859.4(SHROOM3):c.4894C>T (p.Pro1632Ser) | not specified [RCV004861880] | uncertain significance | 4 | 76756633 | 76756633 | Human | | name |
| 597719492 | CV3598938 | single nucleotide variant | NM_020859.4(SHROOM3):c.3899G>A (p.Gly1300Asp) | not specified [RCV004861881] | uncertain significance | 4 | 76754382 | 76754382 | Human | | name |
| 597719498 | CV3598939 | single nucleotide variant | NM_020859.4(SHROOM3):c.4423C>T (p.Pro1475Ser) | not specified [RCV004861882] | uncertain significance | 4 | 76754906 | 76754906 | Human | | name |
| 597719506 | CV3598940 | single nucleotide variant | NM_020859.4(SHROOM3):c.5279T>G (p.Leu1760Arg) | not specified [RCV004861883] | uncertain significance | 4 | 76759625 | 76759625 | Human | | name |
| 597719565 | CV3598947 | single nucleotide variant | NM_020859.4(SHROOM3):c.3184G>A (p.Glu1062Lys) | not specified [RCV004861890] | uncertain significance | 4 | 76741357 | 76741357 | Human | | name |
| 597719575 | CV3598948 | single nucleotide variant | NM_020859.4(SHROOM3):c.4106A>G (p.Gln1369Arg) | not specified [RCV004861891] | uncertain significance | 4 | 76754589 | 76754589 | Human | | name |
| 597719595 | CV3598950 | single nucleotide variant | NM_020859.4(SHROOM3):c.3624G>C (p.Glu1208Asp) | not specified [RCV004861893] | uncertain significance | 4 | 76741797 | 76741797 | Human | | name |
| 597719604 | CV3598951 | single nucleotide variant | NM_020859.4(SHROOM3):c.4136C>T (p.Pro1379Leu) | not specified [RCV004861894] | uncertain significance | 4 | 76754619 | 76754619 | Human | | name |
| 597719615 | CV3598952 | single nucleotide variant | NM_020859.4(SHROOM3):c.3188G>A (p.Arg1063His) | not specified [RCV004861895] | uncertain significance | 4 | 76741361 | 76741361 | Human | | name |
| 597719634 | CV3598954 | single nucleotide variant | NM_020859.4(SHROOM3):c.4589C>T (p.Pro1530Leu) | not specified [RCV004861897] | uncertain significance | 4 | 76755072 | 76755072 | Human | | name |
| 597719659 | CV3598957 | single nucleotide variant | NM_020859.4(SHROOM3):c.4069C>T (p.Pro1357Ser) | not specified [RCV004861900] | uncertain significance | 4 | 76754552 | 76754552 | Human | | name |
| 597719715 | CV3598963 | single nucleotide variant | NM_020859.4(SHROOM3):c.3023G>A (p.Arg1008His) | not specified [RCV004861906] | uncertain significance | 4 | 76741196 | 76741196 | Human | | name |
| 597719736 | CV3598965 | single nucleotide variant | NM_020859.4(SHROOM3):c.3149C>A (p.Pro1050Gln) | not specified [RCV004861908] | uncertain significance | 4 | 76741322 | 76741322 | Human | | name |
| 597719743 | CV3598966 | single nucleotide variant | NM_020859.4(SHROOM3):c.5515G>A (p.Gly1839Arg) | not specified [RCV004861909] | uncertain significance | 4 | 76770791 | 76770791 | Human | | name |
| 597719762 | CV3598968 | single nucleotide variant | NM_020859.4(SHROOM3):c.3658A>G (p.Met1220Val) | not specified [RCV004861911] | uncertain significance | 4 | 76741831 | 76741831 | Human | | name |
| 597719806 | CV3598972 | single nucleotide variant | NM_020859.4(SHROOM3):c.3262G>T (p.Asp1088Tyr) | not specified [RCV004861915] | uncertain significance | 4 | 76741435 | 76741435 | Human | | name |
| 597719827 | CV3598974 | single nucleotide variant | NM_020717.5(SHROOM4):c.4231A>C (p.Lys1411Gln) | not specified [RCV004861917] | uncertain significance | X | 50596946 | 50596946 | Human | | name |
| 597719835 | CV3598975 | single nucleotide variant | NM_020717.5(SHROOM4):c.4084T>C (p.Phe1362Leu) | not specified [RCV004861918] | uncertain significance | X | 50598394 | 50598394 | Human | | name |
| 597719853 | CV3598977 | single nucleotide variant | NM_020717.5(SHROOM4):c.4405G>A (p.Glu1469Lys) | not specified [RCV004861920] | uncertain significance | X | 50596772 | 50596772 | Human | | name |
| 597719864 | CV3598978 | single nucleotide variant | NM_020717.5(SHROOM4):c.4079A>G (p.Asn1360Ser) | not specified [RCV004861921] | uncertain significance | X | 50598399 | 50598399 | Human | | name |
| 597719881 | CV3598980 | single nucleotide variant | NM_020717.5(SHROOM4):c.3580T>C (p.Ser1194Pro) | not specified [RCV004861923] | uncertain significance | X | 50607562 | 50607562 | Human | | name |
| 597719937 | CV3598986 | single nucleotide variant | NM_020717.5(SHROOM4):c.3455C>G (p.Ala1152Gly) | not specified [RCV004861929] | uncertain significance | X | 50607687 | 50607687 | Human | | name |
| 597719979 | CV3598990 | single nucleotide variant | NM_020717.5(SHROOM4):c.3403G>A (p.Glu1135Lys) | not specified [RCV004861933] | uncertain significance | X | 50607739 | 50607739 | Human | | name |
| 12836165 | CV379436 | single nucleotide variant | NM_020717.5(SHROOM4):c.3645C>G (p.Phe1215Leu) | not provided [RCV000422929] | likely benign|uncertain significance | X | 50607497 | 50607497 | Human | | name |
| 598242215 | CV3914286 | single nucleotide variant | NM_001172700.2(SHROOM1):c.242C>T (p.Thr81Ile) | not specified [RCV005276486] | uncertain significance | 5 | 132825899 | 132825899 | Human | | name |
| 598242219 | CV3914287 | single nucleotide variant | NM_001172700.2(SHROOM1):c.139A>G (p.Thr47Ala) | not specified [RCV005276487] | uncertain significance | 5 | 132826002 | 132826002 | Human | | name |
| 598242238 | CV3914291 | single nucleotide variant | NM_001172700.2(SHROOM1):c.268G>C (p.Ala90Pro) | not specified [RCV005276490] | uncertain significance | 5 | 132825873 | 132825873 | Human | | name |
| 598242267 | CV3914297 | single nucleotide variant | NM_001649.4(SHROOM2):c.3032G>T (p.Arg1011Leu) | not specified [RCV005276496] | uncertain significance | X | 9932315 | 9932315 | Human | | name |
| 598199336 | CV3914298 | single nucleotide variant | NM_001649.4(SHROOM2):c.4282G>A (p.Asp1428Asn) | not specified [RCV005268379] | uncertain significance | X | 9939337 | 9939337 | Human | | name |
| 598242271 | CV3914299 | single nucleotide variant | NM_001649.4(SHROOM2):c.4336C>T (p.Arg1446Cys) | not specified [RCV005276497] | uncertain significance | X | 9944665 | 9944665 | Human | | name |
| 598242282 | CV3914301 | single nucleotide variant | NM_001649.4(SHROOM2):c.3241G>A (p.Ala1081Thr) | not specified [RCV005276499] | likely benign | X | 9932524 | 9932524 | Human | | name |
| 598242294 | CV3914303 | single nucleotide variant | NM_001649.4(SHROOM2):c.4069C>T (p.Leu1357Phe) | not specified [RCV005276501] | uncertain significance | X | 9937615 | 9937615 | Human | | name |
| 598242298 | CV3914304 | single nucleotide variant | NM_001649.4(SHROOM2):c.3545C>T (p.Thr1182Met) | not specified [RCV005276502] | uncertain significance | X | 9932828 | 9932828 | Human | | name |
| 598242304 | CV3914305 | single nucleotide variant | NM_001649.4(SHROOM2):c.3884G>T (p.Cys1295Phe) | not specified [RCV005276503] | uncertain significance | X | 9937430 | 9937430 | Human | | name |
| 598242308 | CV3914306 | single nucleotide variant | NM_001649.4(SHROOM2):c.4354C>T (p.Arg1452Trp) | not specified [RCV005276504] | uncertain significance | X | 9944683 | 9944683 | Human | | name |
| 598242342 | CV3914313 | single nucleotide variant | NM_001649.4(SHROOM2):c.3433C>T (p.Arg1145Cys) | not specified [RCV005276511] | likely benign | X | 9932716 | 9932716 | Human | | name |
| 598242347 | CV3914314 | single nucleotide variant | NM_001649.4(SHROOM2):c.3286A>T (p.Thr1096Ser) | not specified [RCV005276512] | uncertain significance | X | 9932569 | 9932569 | Human | | name |
| 598242364 | CV3914317 | single nucleotide variant | NM_001649.4(SHROOM2):c.3912G>A (p.Met1304Ile) | not specified [RCV005276515] | uncertain significance | X | 9937458 | 9937458 | Human | | name |
| 598242369 | CV3914318 | single nucleotide variant | NM_020859.4(SHROOM3):c.3343C>G (p.Arg1115Gly) | not specified [RCV005276516] | uncertain significance | 4 | 76741516 | 76741516 | Human | | name |
| 598242379 | CV3914320 | single nucleotide variant | NM_020859.4(SHROOM3):c.4016C>T (p.Thr1339Met) | not specified [RCV005276518] | likely benign | 4 | 76754499 | 76754499 | Human | | name |
| 598242388 | CV3914322 | single nucleotide variant | NM_020859.4(SHROOM3):c.5971A>G (p.Thr1991Ala) | not specified [RCV005276520] | likely benign | 4 | 76779157 | 76779157 | Human | | name |
| 598242402 | CV3914325 | single nucleotide variant | NM_020859.4(SHROOM3):c.3893G>A (p.Arg1298His) | not specified [RCV005276522] | uncertain significance | 4 | 76754376 | 76754376 | Human | | name |
| 598242407 | CV3914326 | single nucleotide variant | NM_020859.4(SHROOM3):c.3157A>G (p.Ser1053Gly) | not specified [RCV005276523] | uncertain significance | 4 | 76741330 | 76741330 | Human | | name |
| 598242411 | CV3914327 | single nucleotide variant | NM_020859.4(SHROOM3):c.5674C>T (p.Arg1892Trp) | not specified [RCV005276524] | uncertain significance | 4 | 76778860 | 76778860 | Human | | name |
| 598242417 | CV3914328 | single nucleotide variant | NM_020859.4(SHROOM3):c.4483C>T (p.Arg1495Trp) | not specified [RCV005276525] | uncertain significance | 4 | 76754966 | 76754966 | Human | | name |
| 598242439 | CV3914332 | single nucleotide variant | NM_020859.4(SHROOM3):c.4753A>G (p.Met1585Val) | not specified [RCV005276529] | likely benign | 4 | 76756492 | 76756492 | Human | | name |
| 598242459 | CV3914336 | single nucleotide variant | NM_020859.4(SHROOM3):c.3736A>G (p.Thr1246Ala) | not specified [RCV005276533] | likely benign | 4 | 76741909 | 76741909 | Human | | name |
| 598242464 | CV3914337 | single nucleotide variant | NM_020859.4(SHROOM3):c.4259T>C (p.Val1420Ala) | not specified [RCV005276534] | uncertain significance | 4 | 76754742 | 76754742 | Human | | name |
| 598242496 | CV3914344 | single nucleotide variant | NM_020859.4(SHROOM3):c.3839G>T (p.Cys1280Phe) | not specified [RCV005276540] | uncertain significance | 4 | 76754322 | 76754322 | Human | | name |
| 598242501 | CV3914345 | single nucleotide variant | NM_020859.4(SHROOM3):c.4357A>G (p.Asn1453Asp) | not specified [RCV005276541] | uncertain significance | 4 | 76754840 | 76754840 | Human | | name |
| 598242510 | CV3914347 | single nucleotide variant | NM_020859.4(SHROOM3):c.3179T>C (p.Leu1060Pro) | not specified [RCV005276543] | uncertain significance | 4 | 76741352 | 76741352 | Human | | name |
| 598242515 | CV3914348 | single nucleotide variant | NM_020859.4(SHROOM3):c.4714A>C (p.Asn1572His) | not specified [RCV005276544] | uncertain significance | 4 | 76756453 | 76756453 | Human | | name |
| 598256497 | CV3914351 | single nucleotide variant | NM_020859.4(SHROOM3):c.4556C>T (p.Ser1519Phe) | not specified [RCV005279022] | uncertain significance | 4 | 76755039 | 76755039 | Human | | name |
| 598256543 | CV3914361 | single nucleotide variant | NM_020717.5(SHROOM4):c.4126G>A (p.Val1376Ile) | not specified [RCV005279032] | uncertain significance | X | 50598352 | 50598352 | Human | | name |
| 598256549 | CV3914362 | single nucleotide variant | NM_020717.5(SHROOM4):c.4476T>G (p.Asn1492Lys) | not specified [RCV005279033] | uncertain significance | X | 50596701 | 50596701 | Human | | name |
| 616934124 | CV4012125 | single nucleotide variant | NM_020717.5(SHROOM4):c.4101G>C (p.Leu1367Phe) | not specified [RCV005409159] | uncertain significance | X | 50598377 | 50598377 | Human | | name |
| 12905504 | CV413833 | single nucleotide variant | NM_020717.5(SHROOM4):c.3104A>C (p.Glu1035Ala) | X-linked intellectual disability, Stocco dos Santos type [RCV001196368]|not provided [RCV000487580]|not specified [RCV004023235] | likely benign|uncertain significance | X | 50608038 | 50608038 | Human | 1 | name |
| 13215271 | CV430825 | single nucleotide variant | NM_020717.5(SHROOM4):c.4321C>T (p.Arg1441Cys) | not specified [RCV000502309] | uncertain significance | X | 50596856 | 50596856 | Human | | name |
| 13475370 | CV446688 | single nucleotide variant | NM_020717.5(SHROOM4):c.4303G>T (p.Val1435Leu) | not provided [RCV000519870] | uncertain significance | X | 50596874 | 50596874 | Human | | name |
| 13477695 | CV446689 | single nucleotide variant | NM_020717.5(SHROOM4):c.4114C>A (p.Leu1372Met) | not provided [RCV000520469]|not specified [RCV004023621] | uncertain significance | X | 50598364 | 50598364 | Human | | name |
| 13827538 | CV578596 | single nucleotide variant | NM_020717.5(SHROOM4):c.3955G>A (p.Glu1319Lys) | X-linked intellectual disability, Stocco dos Santos type [RCV000714626] | uncertain significance | X | 50598523 | 50598523 | Human | 1 | name |
| 13836226 | CV587495 | single nucleotide variant | NM_020859.4(SHROOM3):c.3581G>A (p.Gly1194Asp) | not provided [RCV000732276] | uncertain significance | 4 | 76741754 | 76741754 | Human | | name |
| 14702648 | CV626299 | single nucleotide variant | NM_020717.5(SHROOM4):c.3071T>C (p.Leu1024Pro) | X-linked intellectual disability, Stocco dos Santos type [RCV000791095] | uncertain significance | X | 50608071 | 50608071 | Human | 1 | name |
| 15184141 | CV709467 | single nucleotide variant | NM_020859.4(SHROOM3):c.4670C>T (p.Ala1557Val) | not provided [RCV000975041] | benign | 4 | 76755153 | 76755153 | Human | | name |
| 21070714 | CV798329 | single nucleotide variant | NM_020717.5(SHROOM4):c.4288C>T (p.Arg1430Cys) | not provided [RCV000999431] | likely benign | X | 50596889 | 50596889 | Human | | name |
| 28887045 | CV860897 | single nucleotide variant | NM_020717.5(SHROOM4):c.3394G>A (p.Glu1132Lys) | not provided [RCV001091932] | uncertain significance | X | 50607748 | 50607748 | Human | | name |
| 8631289 | CV86449 | single nucleotide variant | NM_020859.3(SHROOM3):c.5884C>T (p.Pro1962Ser) | Malignant melanoma [RCV000066540] | not provided | 4 | 76779070 | 76779070 | Human | | name |
| 8631290 | CV86450 | single nucleotide variant | NM_020859.3(SHROOM3):c.5926G>A (p.Glu1976Lys) | Malignant melanoma [RCV000066541] | not provided | 4 | 76779112 | 76779112 | Human | | name |
| 41407595 | CV980404 | single nucleotide variant | NM_020717.5(SHROOM4):c.3174C>A (p.Phe1058Leu) | X-linked intellectual disability, Stocco dos Santos type [RCV001280816] | uncertain significance | X | 50607968 | 50607968 | Human | 1 | name |
| 156398631 | CV2194691 | single nucleotide variant | NM_001172700.2(SHROOM1):c.785A>T (p.His262Leu) | not specified [RCV004075250] | uncertain significance | 5 | 132825356 | 132825356 | Human | | name |
| 156346886 | CV2375332 | single nucleotide variant | NM_001172700.2(SHROOM1):c.308C>T (p.Thr103Ile) | not specified [RCV004232734] | uncertain significance | 5 | 132825833 | 132825833 | Human | | name |
| 156094692 | CV2377787 | single nucleotide variant | NM_001172700.2(SHROOM1):c.586G>A (p.Gly196Arg) | not specified [RCV004230367] | uncertain significance | 5 | 132825555 | 132825555 | Human | | name |
| 156085799 | CV2390694 | single nucleotide variant | NM_001172700.2(SHROOM1):c.388G>A (p.Glu130Lys) | not specified [RCV004239207] | uncertain significance | 5 | 132825753 | 132825753 | Human | | name |
| 156005100 | CV2401055 | single nucleotide variant | NM_001172700.2(SHROOM1):c.591G>C (p.Glu197Asp) | not specified [RCV004244327] | uncertain significance | 5 | 132825550 | 132825550 | Human | | name |
| 329373785 | CV2447403 | single nucleotide variant | NM_001172700.2(SHROOM1):c.731G>A (p.Gly244Asp) | not specified [RCV004262678] | uncertain significance | 5 | 132825410 | 132825410 | Human | | name |
| 329391698 | CV2453048 | single nucleotide variant | NM_001172700.2(SHROOM1):c.344T>C (p.Leu115Pro) | not specified [RCV004277662] | uncertain significance | 5 | 132825797 | 132825797 | Human | | name |
| 401732437 | CV2678104 | single nucleotide variant | NM_001172700.2(SHROOM1):c.585G>C (p.Glu195Asp) | not specified [RCV004296619] | uncertain significance | 5 | 132825556 | 132825556 | Human | | name |
| 401727523 | CV2678367 | single nucleotide variant | NM_001172700.2(SHROOM1):c.431G>A (p.Arg144Gln) | not specified [RCV004292397] | uncertain significance | 5 | 132825710 | 132825710 | Human | | name |
| 401756823 | CV2696509 | single nucleotide variant | NM_001172700.2(SHROOM1):c.380A>G (p.Gln127Arg) | not specified [RCV004312579] | likely benign | 5 | 132825761 | 132825761 | Human | | name |
| 405733068 | CV3314693 | single nucleotide variant | NM_001172700.2(SHROOM1):c.373G>A (p.Ala125Thr) | not specified [RCV004451278] | uncertain significance | 5 | 132825768 | 132825768 | Human | | name |
| 405733074 | CV3314694 | single nucleotide variant | NM_001172700.2(SHROOM1):c.377C>T (p.Ala126Val) | not specified [RCV004451279] | uncertain significance | 5 | 132825764 | 132825764 | Human | | name |
| 405733082 | CV3314695 | single nucleotide variant | NM_001172700.2(SHROOM1):c.397A>G (p.Ser133Gly) | not specified [RCV004451280] | uncertain significance | 5 | 132825744 | 132825744 | Human | | name |
| 405733095 | CV3314696 | single nucleotide variant | NM_001172700.2(SHROOM1):c.913C>T (p.Arg305Trp) | not specified [RCV004451281] | uncertain significance | 5 | 132825228 | 132825228 | Human | | name |
| 405733103 | CV3314697 | single nucleotide variant | NM_001172700.2(SHROOM1):c.970A>C (p.Ile324Leu) | not specified [RCV004451282] | uncertain significance | 5 | 132825171 | 132825171 | Human | | name |
| 405733110 | CV3314698 | single nucleotide variant | NM_001172700.2(SHROOM1):c.971T>C (p.Ile324Thr) | not specified [RCV004451283] | uncertain significance | 5 | 132825170 | 132825170 | Human | | name |
| 407501140 | CV3480591 | single nucleotide variant | NM_001172700.2(SHROOM1):c.701G>A (p.Arg234Gln) | not specified [RCV004669727] | uncertain significance | 5 | 132825440 | 132825440 | Human | | name |
| 597719003 | CV3598881 | single nucleotide variant | NM_001172700.2(SHROOM1):c.463G>A (p.Glu155Lys) | not specified [RCV004861824] | uncertain significance | 5 | 132825678 | 132825678 | Human | | name |
| 597719057 | CV3598887 | single nucleotide variant | NM_001172700.2(SHROOM1):c.437A>G (p.Gln146Arg) | not specified [RCV004861830] | uncertain significance | 5 | 132825704 | 132825704 | Human | | name |
| 597719091 | CV3598891 | single nucleotide variant | NM_001172700.2(SHROOM1):c.676C>T (p.Pro226Ser) | not specified [RCV004861834] | uncertain significance | 5 | 132825465 | 132825465 | Human | | name |
| 598242248 | CV3914293 | single nucleotide variant | NM_001172700.2(SHROOM1):c.884G>A (p.Gly295Asp) | not specified [RCV005276492] | uncertain significance | 5 | 132825257 | 132825257 | Human | | name |
| 156111777 | CV2217929 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1762C>A (p.Pro588Thr) | not specified [RCV004086386] | uncertain significance | 5 | 132823899 | 132823899 | Human | | name |
| 156382660 | CV2223584 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1363C>A (p.Gln455Lys) | not specified [RCV004091938] | uncertain significance | 5 | 132824298 | 132824298 | Human | | name |
| 156289715 | CV2299382 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2066C>T (p.Ala689Val) | not specified [RCV004152681] | uncertain significance | 5 | 132823410 | 132823410 | Human | | name |
| 156351840 | CV2323845 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1151C>A (p.Ser384Tyr) | not specified [RCV004176378] | uncertain significance | 5 | 132824705 | 132824705 | Human | | name |
| 156268808 | CV2326330 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2479C>T (p.His827Tyr) | not specified [RCV004180873] | uncertain significance | 5 | 132822876 | 132822876 | Human | | name |
| 156055816 | CV2343424 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2189T>A (p.Leu730Gln) | not specified [RCV004197500] | uncertain significance | 5 | 132823287 | 132823287 | Human | | name |
| 156068420 | CV2356851 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1025A>G (p.Lys342Arg) | not specified [RCV004204229] | uncertain significance | 5 | 132825027 | 132825027 | Human | | name |
| 156345024 | CV2372855 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1945G>A (p.Gly649Ser) | not specified [RCV004222037] | uncertain significance | 5 | 132823631 | 132823631 | Human | | name |
| 155999464 | CV2378589 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1778C>T (p.Ala593Val) | not specified [RCV004229023] | uncertain significance | 5 | 132823883 | 132823883 | Human | | name |
| 329373381 | CV2434230 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2498C>G (p.Pro833Arg) | not specified [RCV004251906] | uncertain significance | 5 | 132822857 | 132822857 | Human | | name |
| 329361006 | CV2463188 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2198C>A (p.Ala733Glu) | not specified [RCV004274968] | uncertain significance | 5 | 132823278 | 132823278 | Human | | name |
| 401721404 | CV2673704 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1567G>A (p.Ala523Thr) | not specified [RCV004282433] | uncertain significance | 5 | 132824094 | 132824094 | Human | | name |
| 401769382 | CV2689685 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1375G>A (p.Gly459Ser) | not specified [RCV004297605] | uncertain significance | 5 | 132824286 | 132824286 | Human | | name |
| 401732689 | CV2691080 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1273G>A (p.Gly425Ser) | not specified [RCV004301079] | uncertain significance | 5 | 132824388 | 132824388 | Human | | name |
| 401721246 | CV2709885 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2455G>T (p.Ala819Ser) | not specified [RCV004321177] | uncertain significance | 5 | 132822900 | 132822900 | Human | | name |
| 401730819 | CV2711510 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1477A>C (p.Thr493Pro) | not specified [RCV004306825] | uncertain significance | 5 | 132824184 | 132824184 | Human | | name |
| 401742484 | CV2715241 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1762C>G (p.Pro588Ala) | not specified [RCV004324590] | uncertain significance | 5 | 132823899 | 132823899 | Human | | name |
| 401875445 | CV2789056 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1456G>A (p.Gly486Arg) | not specified [RCV004363356] | uncertain significance | 5 | 132824205 | 132824205 | Human | | name |
| 405732985 | CV3314682 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1055C>T (p.Ala352Val) | not specified [RCV004451267] | uncertain significance | 5 | 132824801 | 132824801 | Human | | name |
| 405732989 | CV3314683 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1058C>T (p.Ala353Val) | not specified [RCV004451268] | uncertain significance | 5 | 132824798 | 132824798 | Human | | name |
| 405733010 | CV3314685 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1552C>T (p.Pro518Ser) | not specified [RCV004451270] | uncertain significance | 5 | 132824109 | 132824109 | Human | | name |
| 405733025 | CV3314687 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1772G>T (p.Gly591Val) | not specified [RCV004451272] | uncertain significance | 5 | 132823889 | 132823889 | Human | | name |
| 405733032 | CV3314688 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1969C>T (p.Arg657Cys) | not specified [RCV004451273] | uncertain significance | 5 | 132823507 | 132823507 | Human | | name |
| 405733042 | CV3314689 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1993C>T (p.Leu665Phe) | not specified [RCV004451274] | uncertain significance | 5 | 132823483 | 132823483 | Human | | name |
| 405733048 | CV3314690 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2116A>T (p.Met706Leu) | not specified [RCV004451275] | uncertain significance | 5 | 132823360 | 132823360 | Human | | name |
| 405733055 | CV3314691 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2425C>T (p.Arg809Cys) | not specified [RCV004451276] | uncertain significance | 5 | 132822930 | 132822930 | Human | | name |
| 407519206 | CV3480586 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2323G>A (p.Glu775Lys) | not specified [RCV004676390] | uncertain significance | 5 | 132823032 | 132823032 | Human | | name |
| 407501121 | CV3480587 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1980G>C (p.Lys660Asn) | not specified [RCV004669723] | uncertain significance | 5 | 132823496 | 132823496 | Human | | name |
| 407501126 | CV3480588 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1924G>A (p.Ala642Thr) | not specified [RCV004669724] | uncertain significance | 5 | 132823652 | 132823652 | Human | | name |
| 407501131 | CV3480589 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2195G>A (p.Arg732Gln) | not specified [RCV004669725] | uncertain significance | 5 | 132823281 | 132823281 | Human | | name |
| 407501150 | CV3480595 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2134G>A (p.Val712Met) | not specified [RCV004669729] | uncertain significance | 5 | 132823342 | 132823342 | Human | | name |
| 597718996 | CV3598880 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1748G>A (p.Arg583Gln) | not specified [RCV004861823] | uncertain significance | 5 | 132823913 | 132823913 | Human | | name |
| 597719011 | CV3598882 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1753G>A (p.Ala585Thr) | not specified [RCV004861825] | uncertain significance | 5 | 132823908 | 132823908 | Human | | name |
| 597719028 | CV3598884 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2124C>G (p.Asp708Glu) | not specified [RCV004861827] | uncertain significance | 5 | 132823352 | 132823352 | Human | | name |
| 597719038 | CV3598885 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2285T>A (p.Leu762Gln) | not specified [RCV004861828] | uncertain significance | 5 | 132823070 | 132823070 | Human | | name |
| 597719047 | CV3598886 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1748G>C (p.Arg583Pro) | not specified [RCV004861829] | uncertain significance | 5 | 132823913 | 132823913 | Human | | name |
| 598242197 | CV3914283 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1490G>C (p.Ser497Thr) | not specified [RCV005276483] | uncertain significance | 5 | 132824171 | 132824171 | Human | | name |
| 598242203 | CV3914284 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2411G>A (p.Arg804His) | not specified [RCV005276484] | uncertain significance | 5 | 132822944 | 132822944 | Human | | name |
| 598242210 | CV3914285 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2533C>T (p.Pro845Ser) | not specified [RCV005276485] | uncertain significance | 5 | 132822822 | 132822822 | Human | | name |
| 598242224 | CV3914288 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1658A>T (p.Asp553Val) | not specified [RCV005276488] | uncertain significance | 5 | 132824003 | 132824003 | Human | | name |
| 598199327 | CV3914289 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1297G>T (p.Val433Phe) | not specified [RCV005268378] | uncertain significance | 5 | 132824364 | 132824364 | Human | | name |
| 598242231 | CV3914290 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1613C>T (p.Pro538Leu) | not specified [RCV005276489] | uncertain significance | 5 | 132824048 | 132824048 | Human | | name |
| 598242243 | CV3914292 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1744G>T (p.Val582Phe) | not specified [RCV005276491] | uncertain significance | 5 | 132823917 | 132823917 | Human | | name |
| 598242254 | CV3914294 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1969C>G (p.Arg657Gly) | not specified [RCV005276493] | uncertain significance | 5 | 132823507 | 132823507 | Human | | name |
| 598242263 | CV3914296 | single nucleotide variant | NM_001172700.2(SHROOM1):c.2350G>C (p.Glu784Gln) | not specified [RCV005276495] | uncertain significance | 5 | 132823005 | 132823005 | Human | | name |
| 15174726 | CV698775 | single nucleotide variant | NM_001172700.2(SHROOM1):c.1777G>A (p.Ala593Thr) | not provided [RCV000950408] | benign|likely benign | 5 | 132823884 | 132823884 | Human | | name |
| 8642883 | CV101867 | microsatellite | NM_020717.5(SHROOM4):c.3393GGA[8] (p.Glu1151dup) | X-linked intellectual disability, Stocco dos Santos type [RCV001807030]|not specified [RCV000082025] | benign | X | 50607728 | 50607729 | Human | | name |
| 598128220 | CV3887418 | microsatellite | NM_020717.5(SHROOM4):c.3440AGG[4] (p.Glu1151del) | not provided [RCV005243591] | likely benign | X | 50607688 | 50607690 | Human | | name |
| 13830841 | CV581029 | microsatellite | NM_020717.5(SHROOM4):c.3440AGG[6] (p.Glu1151dup) | not specified [RCV004026923] | benign | X | 50607687 | 50607688 | Human | | name |
| 11655013 | CV271708 | indel | NM_020717.5(SHROOM4):c.3414delinsGGAG (p.Glu1151dup) | X-linked intellectual disability, Stocco dos Santos type [RCV002494870]|not specified [RCV000322654] | benign|likely benign | X | 50607728 | 50607728 | Human | | name |
| 401927044 | CV2828956 | deletion | NM_020717.5(SHROOM4):c.6_8del (p.Glu2_Asn3delinsAsp) | not provided [RCV003438337] | uncertain significance | X | 50814011 | 50814013 | Human | | name |
| 8660686 | CV135756 | insertion | NM_020717.3(SHROOM4):c.3413_3414insGG (p.Glu1140Lysfs) | not provided [RCV000118347] | uncertain significance | X | 50607728 | 50607729 | Human | | name |
| 8642882 | CV101866 | duplication | NM_020717.5(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup) | X-linked intellectual disability, Stocco dos Santos type [RCV001807029]|not specified [RCV000082024] | benign | X | 50607758 | 50607759 | Human | 1 | name |
| 153305626 | CV1687729 | duplication | NM_020717.5(SHROOM4):c.3372_3374dup (p.Gln1128_Lys1129insGln) | not provided [RCV002263550] | uncertain significance | X | 50607767 | 50607768 | Human | | name |
| 408377843 | CV3500848 | microsatellite | NM_020717.5(SHROOM4):c.3393GGA[9] (p.Glu1151_Ala1152insGluGlu) | not provided [RCV004722498] | likely benign | X | 50607728 | 50607729 | Human | | name |
| 155664046 | CV1785908 | insertion | NM_020717.5(SHROOM4):c.3393_3394insCAGAAGCAACAGGAG (p.Gln1131_Glu1132insGlnLysGlnGlnGlu) | not specified [RCV004047905] | benign | X | 50607748 | 50607749 | Human | | name |