| 11596993 | CV292834 | single nucleotide variant | NM_032682.6(FOXP1):c.*39A>G | Intellectual Disability with Language Impairment and Autistic Features [RCV000388813] | likely benign | 3 | 70959208 | 70959208 | Human | | name |
| 11582696 | CV291557 | single nucleotide variant | NM_032682.6(FOXP1):c.-208C>G | Intellectual Disability with Language Impairment and Autistic Features [RCV000261454] | likely benign | 3 | 71493466 | 71493466 | Human | | name |
| 11650150 | CV291566 | single nucleotide variant | NM_032682.6(FOXP1):c.-441G>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000291163] | uncertain significance | 3 | 71581692 | 71581692 | Human | | name |
| 11591053 | CV292792 | single nucleotide variant | NM_032682.6(FOXP1):c.*827G>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000325191] | likely benign | 3 | 70958420 | 70958420 | Human | | name |
| 11587619 | CV292814 | single nucleotide variant | NM_032682.6(FOXP1):c.*665G>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000296423] | likely benign | 3 | 70958582 | 70958582 | Human | | name |
| 11585728 | CV292841 | single nucleotide variant | NM_032682.6(FOXP1):c.-385C>T | Intellectual Disability with Language Impairment and Autistic Features [RCV000282857] | likely benign | 3 | 71581636 | 71581636 | Human | | name |
| 11589381 | CV296141 | single nucleotide variant | NM_032682.6(FOXP1):c.*222C>T | Intellectual Disability with Language Impairment and Autistic Features [RCV000310220] | likely benign | 3 | 70959025 | 70959025 | Human | | name |
| 11659953 | CV296142 | single nucleotide variant | NM_032682.6(FOXP1):c.*119A>G | Intellectual Disability with Language Impairment and Autistic Features [RCV000362573] | uncertain significance | 3 | 70959128 | 70959128 | Human | | name |
| 11595624 | CV296157 | single nucleotide variant | NM_032682.6(FOXP1):c.-112C>T | Intellectual Disability with Language Impairment and Autistic Features [RCV000372493] | likely benign | 3 | 71359189 | 71359189 | Human | | name |
| 11596531 | CV296159 | single nucleotide variant | NM_032682.6(FOXP1):c.*974G>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000383260] | likely benign | 3 | 70958273 | 70958273 | Human | | name |
| 11658476 | CV296163 | single nucleotide variant | NM_032682.6(FOXP1):c.*616C>T | Intellectual Disability with Language Impairment and Autistic Features [RCV000348983] | uncertain significance | 3 | 70958631 | 70958631 | Human | | name |
| 11657303 | CV296173 | single nucleotide variant | NM_032682.6(FOXP1):c.-393G>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000340176] | uncertain significance | 3 | 71581644 | 71581644 | Human | | name |
| 11657734 | CV296174 | single nucleotide variant | NM_032682.5(FOXP1):c.-482G>C | Intellectual Disability with Language Impairment and Autistic Features [RCV000343810] | uncertain significance | 3 | 71583945 | 71583945 | Human | | name |
| 11650807 | CV296175 | single nucleotide variant | NM_032682.5(FOXP1):c.-520T>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000295334] | uncertain significance | 3 | 71583983 | 71583983 | Human | | name |
| 11655049 | CV296192 | single nucleotide variant | NM_032682.6(FOXP1):c.-249C>T | Intellectual Disability with Language Impairment and Autistic Features [RCV000322668] | uncertain significance | 3 | 71493507 | 71493507 | Human | | name |
| 11596526 | CV296193 | single nucleotide variant | NM_032682.6(FOXP1):c.-425A>G | Intellectual Disability with Language Impairment and Autistic Features [RCV000383179] | likely benign | 3 | 71581676 | 71581676 | Human | | name |
| 11664569 | CV296194 | single nucleotide variant | NM_032682.5(FOXP1):c.-494A>G | Intellectual Disability with Language Impairment and Autistic Features [RCV000407149] | uncertain significance | 3 | 71583957 | 71583957 | Human | | name |
| 11585624 | CV291498 | single nucleotide variant | NM_032682.6(FOXP1):c.*2826A>G | Intellectual Disability with Language Impairment and Autistic Features [RCV000282199] | likely benign | 3 | 70956421 | 70956421 | Human | | name |
| 11595558 | CV291500 | single nucleotide variant | NM_032682.6(FOXP1):c.*2682A>G | Intellectual Disability with Language Impairment and Autistic Features [RCV000371977] | likely benign | 3 | 70956565 | 70956565 | Human | | name |
| 11664511 | CV291507 | single nucleotide variant | NM_032682.6(FOXP1):c.*2312T>C | Intellectual Disability with Language Impairment and Autistic Features [RCV000406203] | uncertain significance | 3 | 70956935 | 70956935 | Human | | name |
| 11659906 | CV291520 | single nucleotide variant | NM_032682.6(FOXP1):c.*2237G>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000362195] | uncertain significance | 3 | 70957010 | 70957010 | Human | | name |
| 11584404 | CV291523 | single nucleotide variant | NM_032682.6(FOXP1):c.*2067A>G | Intellectual Disability with Language Impairment and Autistic Features [RCV000273513] | uncertain significance | 3 | 70957180 | 70957180 | Human | | name |
| 11598558 | CV291530 | single nucleotide variant | NM_032682.6(FOXP1):c.*1189A>G | Intellectual Disability with Language Impairment and Autistic Features [RCV000407225] | likely benign | 3 | 70958058 | 70958058 | Human | | name |
| 11651679 | CV291532 | single nucleotide variant | NM_032682.6(FOXP1):c.*1100T>C | Intellectual Disability with Language Impairment and Autistic Features [RCV000300207] | uncertain significance | 3 | 70958147 | 70958147 | Human | | name |
| 11591300 | CV292727 | single nucleotide variant | NM_032682.6(FOXP1):c.*3417C>T | Intellectual Disability with Language Impairment and Autistic Features [RCV000327228] | uncertain significance | 3 | 70955830 | 70955830 | Human | | name |
| 11634721 | CV292743 | duplication | NM_032682.6(FOXP1):c.*3175dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000270170] | benign | 3 | 70956071 | 70956072 | Human | | name |
| 11597046 | CV292750 | single nucleotide variant | NM_032682.6(FOXP1):c.*2942A>G | Intellectual Disability with Language Impairment and Autistic Features [RCV000389227] | likely benign | 3 | 70956305 | 70956305 | Human | | name |
| 11586290 | CV292753 | single nucleotide variant | NM_032682.6(FOXP1):c.*2575C>T | Intellectual Disability with Language Impairment and Autistic Features [RCV000286806] | likely benign | 3 | 70956672 | 70956672 | Human | | name |
| 11589020 | CV292754 | single nucleotide variant | NM_032682.6(FOXP1):c.*2302A>T | Intellectual Disability with Language Impairment and Autistic Features [RCV000307531] | likely benign | 3 | 70956945 | 70956945 | Human | | name |
| 11596300 | CV292756 | single nucleotide variant | NM_032682.6(FOXP1):c.*1536G>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000380449] | likely benign | 3 | 70957711 | 70957711 | Human | | name |
| 11593227 | CV292760 | single nucleotide variant | NM_032682.6(FOXP1):c.*1296C>T | Intellectual Disability with Language Impairment and Autistic Features [RCV000346518] | likely benign | 3 | 70957951 | 70957951 | Human | | name |
| 11649643 | CV292765 | single nucleotide variant | NM_032682.6(FOXP1):c.*1209G>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000288453] | uncertain significance | 3 | 70958038 | 70958038 | Human | | name |
| 11593852 | CV292766 | single nucleotide variant | NM_032682.6(FOXP1):c.*1208C>T | Intellectual Disability with Language Impairment and Autistic Features [RCV000352853] | uncertain significance | 3 | 70958039 | 70958039 | Human | | name |
| 11589756 | CV292767 | single nucleotide variant | NM_032682.6(FOXP1):c.*1131T>G | Intellectual Disability with Language Impairment and Autistic Features [RCV000312961] | uncertain significance | 3 | 70958116 | 70958116 | Human | | name |
| 11583569 | CV292772 | single nucleotide variant | NM_032682.6(FOXP1):c.*1043T>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000267593] | likely benign | 3 | 70958204 | 70958204 | Human | | name |
| 11586555 | CV296039 | single nucleotide variant | NM_032682.6(FOXP1):c.*4515C>T | Intellectual Disability with Language Impairment and Autistic Features [RCV000288671] | likely benign | 3 | 70954732 | 70954732 | Human | | name |
| 11598287 | CV296040 | single nucleotide variant | NM_032682.6(FOXP1):c.*3818C>T | Intellectual Disability with Language Impairment and Autistic Features [RCV000403621] | likely benign | 3 | 70955429 | 70955429 | Human | | name |
| 11594040 | CV296045 | single nucleotide variant | NM_032682.6(FOXP1):c.*3693G>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000354925] | likely benign | 3 | 70955554 | 70955554 | Human | | name |
| 11659557 | CV296067 | single nucleotide variant | NM_032682.6(FOXP1):c.*3402G>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000358939] | uncertain significance | 3 | 70955845 | 70955845 | Human | | name |
| 11592898 | CV296073 | single nucleotide variant | NM_032682.6(FOXP1):c.*4411G>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000343581] | likely benign | 3 | 70954836 | 70954836 | Human | | name |
| 11589784 | CV296074 | single nucleotide variant | NM_032682.6(FOXP1):c.*4076C>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000313483] | likely benign | 3 | 70955171 | 70955171 | Human | | name |
| 11655381 | CV296076 | single nucleotide variant | NM_032682.6(FOXP1):c.*2979C>T | Intellectual Disability with Language Impairment and Autistic Features [RCV000325287] | uncertain significance | 3 | 70956268 | 70956268 | Human | | name |
| 11582499 | CV296077 | single nucleotide variant | NM_032682.6(FOXP1):c.*3685G>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000260160] | likely benign | 3 | 70955562 | 70955562 | Human | | name |
| 11645516 | CV296081 | single nucleotide variant | NM_032682.6(FOXP1):c.*3659T>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000265791] | uncertain significance | 3 | 70955588 | 70955588 | Human | | name |
| 11662308 | CV296093 | single nucleotide variant | NM_032682.6(FOXP1):c.*3424G>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000384732] | uncertain significance | 3 | 70955823 | 70955823 | Human | | name |
| 11654694 | CV296098 | single nucleotide variant | NM_032682.6(FOXP1):c.*1857A>G | Intellectual Disability with Language Impairment and Autistic Features [RCV000319355] | uncertain significance | 3 | 70957390 | 70957390 | Human | | name |
| 11645227 | CV296103 | single nucleotide variant | NM_032682.6(FOXP1):c.*3313T>C | Intellectual Disability with Language Impairment and Autistic Features [RCV000264196] | uncertain significance | 3 | 70955934 | 70955934 | Human | | name |
| 11597435 | CV296113 | single nucleotide variant | NM_032682.6(FOXP1):c.*2473T>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000393825] | uncertain significance | 3 | 70956774 | 70956774 | Human | | name |
| 11651958 | CV296122 | single nucleotide variant | NM_032682.6(FOXP1):c.*2362A>G | Intellectual Disability with Language Impairment and Autistic Features [RCV000301871] | uncertain significance | 3 | 70956885 | 70956885 | Human | | name |
| 11590172 | CV296127 | single nucleotide variant | NM_032682.6(FOXP1):c.*1536G>T | Intellectual Disability with Language Impairment and Autistic Features [RCV000316541] | likely benign | 3 | 70957711 | 70957711 | Human | | name |
| 11593304 | CV296128 | single nucleotide variant | NM_032682.6(FOXP1):c.*2337G>C | Intellectual Disability with Language Impairment and Autistic Features [RCV000347443] | likely benign | 3 | 70956910 | 70956910 | Human | | name |
| 11649222 | CV296133 | single nucleotide variant | NM_032682.6(FOXP1):c.*1523G>T | Intellectual Disability with Language Impairment and Autistic Features [RCV000285877] | uncertain significance | 3 | 70957724 | 70957724 | Human | | name |
| 11664156 | CV296137 | single nucleotide variant | NM_032682.6(FOXP1):c.*1104C>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000402947] | uncertain significance | 3 | 70958143 | 70958143 | Human | | name |
| 11583072 | CV296140 | single nucleotide variant | NM_032682.6(FOXP1):c.*1037C>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000264119] | benign | 3 | 70958210 | 70958210 | Human | | name |
| 11589785 | CV296147 | single nucleotide variant | NM_032682.6(FOXP1):c.*2157G>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000313277] | likely benign | 3 | 70957090 | 70957090 | Human | | name |
| 11590756 | CV296155 | single nucleotide variant | NM_032682.6(FOXP1):c.*1409T>C | Intellectual Disability with Language Impairment and Autistic Features [RCV000322107] | benign | 3 | 70957838 | 70957838 | Human | | name |
| 11650228 | CV296158 | single nucleotide variant | NM_032682.6(FOXP1):c.*1306G>A | Intellectual Disability with Language Impairment and Autistic Features [RCV000291571] | uncertain significance | 3 | 70957941 | 70957941 | Human | | name |
| 11665680 | CV353652 | deletion | NM_032682.5(FOXP1):c.-542delG | Intellectual Disability with Language Impairment and Autistic Features [RCV000287290] | likely benign | 3 | 71584005 | 71584005 | Human | 1 | name |
| 13214516 | CV428212 | single nucleotide variant | NM_001349338.3(FOXP1):c.*6G>C | not specified [RCV000501187] | uncertain significance | 3 | 70959241 | 70959241 | Human | | name |
| 11591764 | CV296143 | duplication | NM_001349338.3(FOXP1):c.*56dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000332049]|not provided [RCV001675847] | benign | 3 | 70959190 | 70959191 | Human | 1 | name |
| 11646303 | CV296186 | duplication | NM_001349338.3(FOXP1):c.*58dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000269911] | uncertain significance | 3 | 70959188 | 70959189 | Human | 1 | name |
| 11590558 | CV296189 | single nucleotide variant | NM_001349338.3(FOXP1):c.-91G>A | not provided [RCV001670826] | benign | 3 | 71359168 | 71359168 | Human | | name |
| 11648294 | CV291544 | deletion | NM_001349338.3(FOXP1):c.*567del | Intellectual Disability with Language Impairment and Autistic Features [RCV000281073] | uncertain significance | 3 | 70958680 | 70958680 | Human | 1 | name |
| 11592733 | CV291550 | deletion | NM_001349338.3(FOXP1):c.*509del | Intellectual Disability with Language Impairment and Autistic Features [RCV000341716] | uncertain significance | 3 | 70958738 | 70958738 | Human | 1 | name |
| 11596228 | CV291558 | single nucleotide variant | NM_032682.5(FOXP1):c.-297-14T>C | Intellectual Disability with Language Impairment and Autistic Features [RCV000379645] | likely benign | 3 | 71493569 | 71493569 | Human | | name |
| 11663087 | CV292815 | deletion | NM_001349338.3(FOXP1):c.*596del | Intellectual Disability with Language Impairment and Autistic Features [RCV000392064] | uncertain significance | 3 | 70958651 | 70958651 | Human | 1 | name |
| 11651333 | CV292817 | deletion | NM_001349338.3(FOXP1):c.*510del | Intellectual Disability with Language Impairment and Autistic Features [RCV000298497] | uncertain significance | 3 | 70958737 | 70958737 | Human | 1 | name |
| 11646596 | CV292819 | deletion | NM_001349338.3(FOXP1):c.*476del | Intellectual Disability with Language Impairment and Autistic Features [RCV000271513] | uncertain significance | 3 | 70958771 | 70958771 | Human | 1 | name |
| 11657079 | CV296164 | deletion | NM_001349338.3(FOXP1):c.*511del | Intellectual Disability with Language Impairment and Autistic Features [RCV000338356] | uncertain significance | 3 | 70958736 | 70958736 | Human | 1 | name |
| 11659528 | CV296168 | deletion | NM_001349338.3(FOXP1):c.*479del | Intellectual Disability with Language Impairment and Autistic Features [RCV000358972] | uncertain significance | 3 | 70958768 | 70958768 | Human | 1 | name |
| 150409993 | CV1176394 | single nucleotide variant | NM_001349338.3(FOXP1):c.511-3C>A | not provided [RCV001546441] | likely pathogenic|conflicting interpretations of pathogenicity | 3 | 71047098 | 71047098 | Human | | name |
| 152982995 | CV1677841 | single nucleotide variant | NM_001349338.3(FOXP1):c.975-2A>G | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002249995] | pathogenic | 3 | 71001061 | 71001061 | Human | 1 | name |
| 152999341 | CV1679782 | single nucleotide variant | NM_001349338.3(FOXP1):c.511-3C>G | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002251171] | uncertain significance | 3 | 71047098 | 71047098 | Human | 1 | name |
| 155803887 | CV1858454 | single nucleotide variant | NM_001349338.3(FOXP1):c.869+3A>G | not provided [RCV002462764] | uncertain significance | 3 | 71041325 | 71041325 | Human | | name |
| 156439158 | CV1944026 | single nucleotide variant | NM_001349338.3(FOXP1):c.420+9C>T | not provided [RCV003109114] | likely benign | 3 | 71053627 | 71053627 | Human | | name |
| 156449251 | CV1944515 | single nucleotide variant | NM_001349338.3(FOXP1):c.283-4C>T | not provided [RCV003121366] | likely benign | 3 | 71053777 | 71053777 | Human | | name |
| 156224098 | CV1962303 | single nucleotide variant | NM_001349338.3(FOXP1):c.421-4G>A | not provided [RCV002596566] | likely benign | 3 | 71052630 | 71052630 | Human | | name |
| 156340691 | CV1984865 | single nucleotide variant | NM_001349338.3(FOXP1):c.421-5T>C | not provided [RCV002631418] | likely benign | 3 | 71052631 | 71052631 | Human | | name |
| 156096586 | CV2010696 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-7C>T | not provided [RCV002695140] | likely benign | 3 | 71112644 | 71112644 | Human | | name |
| 155935079 | CV2035362 | single nucleotide variant | NM_001349338.3(FOXP1):c.664+6C>T | Inborn genetic diseases [RCV002780470]|not provided [RCV002751394] | benign|likely benign | 3 | 71046936 | 71046936 | Human | 1 | name |
| 155940790 | CV2068117 | single nucleotide variant | NM_001349338.3(FOXP1):c.511-7C>G | not provided [RCV002839392] | likely benign | 3 | 71047102 | 71047102 | Human | | name |
| 10403728 | CV207088 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-4C>T | not provided [RCV005055698]|not specified [RCV000193249] | likely benign|uncertain significance | 3 | 71112641 | 71112641 | Human | | name |
| 156147425 | CV2078749 | single nucleotide variant | NM_001349338.3(FOXP1):c.420+3A>G | not provided [RCV002872203] | uncertain significance | 3 | 71053633 | 71053633 | Human | | name |
| 156213731 | CV2110810 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+7G>T | FOXP1-related disorder [RCV003961194]|not provided [RCV002918270] | likely benign | 3 | 71198195 | 71198195 | Human | 1 | name , alternate_id |
| 329397537 | CV2456280 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+4C>T | Inborn genetic diseases [RCV003195587] | uncertain significance | 3 | 71198198 | 71198198 | Human | 1 | name |
| 401903077 | CV2802571 | single nucleotide variant | NM_001349338.3(FOXP1):c.870-2A>C | FOXP1-related disorder [RCV003394357] | likely pathogenic | 3 | 71015655 | 71015655 | Human | | name , trait , alternate_id |
| 401914518 | CV2830729 | single nucleotide variant | NM_001349338.3(FOXP1):c.870-2A>G | not provided [RCV003442467] | pathogenic | 3 | 71015655 | 71015655 | Human | | name |
| 405224417 | CV2887636 | single nucleotide variant | NM_001349338.3(FOXP1):c.421-9C>G | not provided [RCV003554339] | likely benign | 3 | 71052635 | 71052635 | Human | | name |
| 11598367 | CV291489 | single nucleotide variant | NM_001349338.3(FOXP1):c.*3413T>C | not provided [RCV002263327] | benign|likely benign | 3 | 70955834 | 70955834 | Human | | name |
| 11652324 | CV291491 | deletion | NM_001349338.3(FOXP1):c.*3403del | Intellectual Disability with Language Impairment and Autistic Features [RCV000304123] | uncertain significance | 3 | 70955844 | 70955844 | Human | 1 | name |
| 11660557 | CV292723 | deletion | NM_001349338.3(FOXP1):c.*4029del | Intellectual Disability with Language Impairment and Autistic Features [RCV000368060]|not provided [RCV003437100] | benign|uncertain significance | 3 | 70955218 | 70955218 | Human | 1 | name |
| 11647457 | CV292751 | duplication | NM_001349338.3(FOXP1):c.*2837dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000276389] | uncertain significance | 3 | 70956409 | 70956410 | Human | 1 | name |
| 11656761 | CV292752 | duplication | NM_001349338.3(FOXP1):c.*2757dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000335963] | uncertain significance | 3 | 70956489 | 70956490 | Human | 1 | name |
| 11595175 | CV292769 | duplication | NM_001349338.3(FOXP1):c.*1125dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000367662] | benign | 3 | 70958121 | 70958122 | Human | 1 | name |
| 402486831 | CV2928431 | single nucleotide variant | NM_001349338.3(FOXP1):c.665-5T>C | not provided [RCV003572608] | likely benign | 3 | 71041537 | 71041537 | Human | | name |
| 11594602 | CV296049 | duplication | NM_001349338.3(FOXP1):c.*3676dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000360866] | benign | 3 | 70955570 | 70955571 | Human | 1 | name |
| 11635247 | CV296050 | duplication | NM_001349338.3(FOXP1):c.*3608dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000320893] | likely benign | 3 | 70955638 | 70955639 | Human | 1 | name |
| 11653291 | CV296068 | duplication | NM_001349338.3(FOXP1):c.*3303dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000309991] | uncertain significance | 3 | 70955943 | 70955944 | Human | 1 | name |
| 11651609 | CV296075 | deletion | NM_001349338.3(FOXP1):c.*3722del | Intellectual Disability with Language Impairment and Autistic Features [RCV000300106] | uncertain significance | 3 | 70955525 | 70955525 | Human | 1 | name |
| 11656183 | CV296085 | deletion | NM_001349338.3(FOXP1):c.*2832del | Intellectual Disability with Language Impairment and Autistic Features [RCV000331434] | uncertain significance | 3 | 70956415 | 70956415 | Human | 1 | name |
| 11635732 | CV296086 | duplication | NM_001349338.3(FOXP1):c.*2831dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000385910]|not provided [RCV004695763] | uncertain significance | 3 | 70956415 | 70956416 | Human | 1 | name |
| 11635595 | CV296096 | duplication | NM_001349338.3(FOXP1):c.*2092dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000368163] | likely benign | 3 | 70957154 | 70957155 | Human | 1 | name |
| 11659170 | CV296108 | duplication | NM_001349338.3(FOXP1):c.*1669dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000355445]|not provided [RCV003221945] | likely benign|uncertain significance | 3 | 70957577 | 70957578 | Human | 1 | name |
| 11594947 | CV296112 | deletion | NM_001349338.3(FOXP1):c.*3192del | Intellectual Disability with Language Impairment and Autistic Features [RCV000364758]|not provided [RCV003326416] | likely benign|uncertain significance | 3 | 70956055 | 70956055 | Human | 1 | name |
| 11634615 | CV296148 | duplication | NM_001349338.3(FOXP1):c.*1541dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000261245]|not provided [RCV004695764] | uncertain significance | 3 | 70957705 | 70957706 | Human | 1 | name |
| 405182286 | CV3120048 | single nucleotide variant | NM_001349338.3(FOXP1):c.664+7G>A | not provided [RCV003820142] | likely benign | 3 | 71046935 | 71046935 | Human | | name |
| 408385026 | CV3505477 | single nucleotide variant | NM_001349338.3(FOXP1):c.421-9C>A | FOXP1-related disorder [RCV004732324] | likely benign | 3 | 71052635 | 71052635 | Human | | name , trait , alternate_id |
| 597904996 | CV3742041 | single nucleotide variant | NM_001349338.3(FOXP1):c.421-8C>T | not provided [RCV005072825] | likely benign | 3 | 71052634 | 71052634 | Human | | name |
| 597949098 | CV3772276 | single nucleotide variant | NM_001349338.3(FOXP1):c.282+2T>C | not provided [RCV005120595] | likely pathogenic | 3 | 71112534 | 71112534 | Human | | name |
| 597839663 | CV3825028 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+6G>A | not provided [RCV005171892] | uncertain significance | 3 | 71198196 | 71198196 | Human | | name |
| 597908211 | CV3829882 | single nucleotide variant | NM_001349338.3(FOXP1):c.869+9C>T | not provided [RCV005182451] | likely benign | 3 | 71041319 | 71041319 | Human | | name |
| 597909264 | CV3830000 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+7G>A | not provided [RCV005182569] | likely benign | 3 | 71198195 | 71198195 | Human | | name |
| 597970596 | CV3832518 | duplication | NM_001349338.3(FOXP1):c.180+3dup | not provided [RCV005166597] | uncertain significance | 3 | 71198198 | 71198199 | Human | | name |
| 597971709 | CV3833155 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+4C>G | not provided [RCV005167052] | uncertain significance | 3 | 71198198 | 71198198 | Human | | name |
| 616938289 | CV4013033 | single nucleotide variant | NM_001349338.3(FOXP1):c.511-1G>A | not provided [RCV005410500] | likely pathogenic | 3 | 71047096 | 71047096 | Human | | name |
| 13212898 | CV426741 | single nucleotide variant | NM_001349338.3(FOXP1):c.869+1G>A | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000497862] | pathogenic | 3 | 71041327 | 71041327 | Human | 1 | name |
| 13435260 | CV431906 | single nucleotide variant | NM_001349338.3(FOXP1):c.975-2A>C | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000505255] | pathogenic | 3 | 71001061 | 71001061 | Human | 1 | name |
| 15151073 | CV759244 | single nucleotide variant | NM_001349338.3(FOXP1):c.975-6T>C | not provided [RCV000923598] | likely benign | 3 | 71001065 | 71001065 | Human | | name |
| 15100534 | CV787185 | single nucleotide variant | NM_001349338.3(FOXP1):c.665-7G>T | not provided [RCV000975425] | likely benign | 3 | 71041539 | 71041539 | Human | | name |
| 21071216 | CV790419 | single nucleotide variant | NM_001349338.3(FOXP1):c.870-1G>C | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000987290] | pathogenic | 3 | 71015654 | 71015654 | Human | 1 | name |
| 8578767 | CV113155 | single nucleotide variant | NM_032682.5(FOXP1):c.180+39844G>A | Lung cancer [RCV000093678] | uncertain significance | 3 | 71158358 | 71158358 | Human | | name |
| 150331859 | CV1163438 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-29G>A | not provided [RCV001527978] | likely benign | 3 | 71112666 | 71112666 | Human | | name |
| 150408704 | CV1176395 | single nucleotide variant | NM_001349338.3(FOXP1):c.-11-71A>T | not provided [RCV001545997] | likely benign | 3 | 71198463 | 71198463 | Human | | name |
| 150445594 | CV1215521 | single nucleotide variant | NM_001349338.3(FOXP1):c.-11-64C>T | not provided [RCV001611114] | benign | 3 | 71198456 | 71198456 | Human | | name |
| 150435060 | CV1221549 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+96T>C | not provided [RCV001609237] | benign | 3 | 71198106 | 71198106 | Human | | name |
| 150471001 | CV1248127 | single nucleotide variant | NM_001349338.3(FOXP1):c.-11-33T>A | not provided [RCV001671163] | benign | 3 | 71198425 | 71198425 | Human | | name |
| 150506732 | CV1258039 | duplication | NM_001349338.3(FOXP1):c.870-74dup | not provided [RCV001678256] | benign | 3 | 71015721 | 71015722 | Human | | name |
| 150452997 | CV1260463 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-50C>T | not provided [RCV001680953] | benign | 3 | 71112687 | 71112687 | Human | | name |
| 150461267 | CV1264287 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+49T>C | not provided [RCV001682204] | benign | 3 | 71198153 | 71198153 | Human | | name |
| 150498466 | CV1271515 | single nucleotide variant | NM_001349338.3(FOXP1):c.-11-52C>T | not provided [RCV001689205] | benign | 3 | 71198444 | 71198444 | Human | | name |
| 150476151 | CV1279200 | single nucleotide variant | NM_001349338.3(FOXP1):c.-11-29T>A | not provided [RCV001713942] | benign | 3 | 71198421 | 71198421 | Human | | name |
| 151236077 | CV1319508 | single nucleotide variant | NM_001349338.3(FOXP1):c.1653-3C>G | not provided [RCV001797453] | uncertain significance | 3 | 70970808 | 70970808 | Human | | name |
| 151661704 | CV1329961 | single nucleotide variant | NM_001349338.3(FOXP1):c.-447+5G>A | not provided [RCV001823371] | uncertain significance | 3 | 71583566 | 71583566 | Human | | name |
| 8659612 | CV134554 | single nucleotide variant | NM_001349338.3(FOXP1):c.1890-5T>C | Inborn genetic diseases [RCV002312109]|not provided [RCV000971698]|not specified [RCV000117093] | benign|likely benign | 3 | 70959396 | 70959396 | Human | 1 | name |
| 152128398 | CV1583749 | single nucleotide variant | NM_001349338.3(FOXP1):c.665-19T>C | not provided [RCV002198994] | likely benign | 3 | 71041551 | 71041551 | Human | | name |
| 153000082 | CV1682849 | single nucleotide variant | NM_001349338.3(FOXP1):c.1653-5C>G | See cases [RCV002252859] | uncertain significance | 3 | 70970810 | 70970810 | Human | | name |
| 10050526 | CV192059 | single nucleotide variant | NM_001349338.3(FOXP1):c.1652+5G>A | Inborn genetic diseases [RCV003258680]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001253743]|not provided [RCV000358706]|not specified [RCV001818420] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 3 | 70972550 | 70972550 | Human | 2 | name |
| 156434641 | CV1940144 | single nucleotide variant | NM_001349338.3(FOXP1):c.1063-8C>T | not provided [RCV003104558] | likely benign | 3 | 70988085 | 70988085 | Human | | name |
| 156411912 | CV1972864 | single nucleotide variant | NM_001349338.3(FOXP1):c.510+14A>G | not provided [RCV002587645] | likely benign | 3 | 71052523 | 71052523 | Human | | name |
| 156330218 | CV1990955 | single nucleotide variant | NM_001349338.3(FOXP1):c.1889+8T>C | not provided [RCV002630887] | likely benign | 3 | 70965882 | 70965882 | Human | | name |
| 156179926 | CV2023291 | deletion | NM_001349338.3(FOXP1):c.511-18del | not provided [RCV002765584] | likely benign | 3 | 71047113 | 71047113 | Human | | name |
| 156230504 | CV2024231 | single nucleotide variant | NM_001349338.3(FOXP1):c.511-16T>A | not provided [RCV002745288] | likely benign | 3 | 71047111 | 71047111 | Human | | name |
| 155911262 | CV2037638 | single nucleotide variant | NM_001349338.3(FOXP1):c.665-15A>G | not provided [RCV002771602] | benign | 3 | 71041547 | 71041547 | Human | | name |
| 156030154 | CV2059077 | single nucleotide variant | NM_001349338.3(FOXP1):c.975-18T>G | not provided [RCV002796018] | likely benign | 3 | 71001077 | 71001077 | Human | | name |
| 155979032 | CV2073255 | single nucleotide variant | NM_001349338.3(FOXP1):c.1652+6T>C | not provided [RCV002842426] | uncertain significance | 3 | 70972549 | 70972549 | Human | | name |
| 155964423 | CV2080657 | single nucleotide variant | NM_001349338.3(FOXP1):c.1530+3A>G | not provided [RCV002863014] | uncertain significance | 3 | 70976938 | 70976938 | Human | | name |
| 156187656 | CV2086615 | single nucleotide variant | NM_001349338.3(FOXP1):c.1428+3A>G | not provided [RCV002852034] | likely benign|uncertain significance | 3 | 70977640 | 70977640 | Human | | name |
| 156272783 | CV2136646 | single nucleotide variant | NM_001349338.3(FOXP1):c.1531-7G>A | not provided [RCV003009327] | likely benign | 3 | 70972683 | 70972683 | Human | | name |
| 156303490 | CV2146566 | single nucleotide variant | NM_001349338.3(FOXP1):c.282+18T>C | not provided [RCV003028207] | likely benign | 3 | 71112518 | 71112518 | Human | | name |
| 156132470 | CV2169237 | single nucleotide variant | NM_001349338.3(FOXP1):c.282+15T>G | not provided [RCV003022229] | likely benign | 3 | 71112521 | 71112521 | Human | | name |
| 156232473 | CV2173113 | duplication | NM_001349338.3(FOXP1):c.511-19dup | not provided [RCV003059359] | benign | 3 | 71047113 | 71047114 | Human | | name |
| 156198826 | CV2187025 | single nucleotide variant | NM_001349338.3(FOXP1):c.510+17T>G | not provided [RCV003058087] | likely benign | 3 | 71052520 | 71052520 | Human | | name |
| 243058488 | CV2405085 | single nucleotide variant | NM_001349338.3(FOXP1):c.1429-1G>A | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003140635] | likely pathogenic | 3 | 70977043 | 70977043 | Human | 1 | name |
| 401830039 | CV2417734 | single nucleotide variant | NM_001349338.3(FOXP1):c.1530+1G>T | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003327594] | pathogenic | 3 | 70976940 | 70976940 | Human | 1 | name |
| 329351183 | CV2477968 | single nucleotide variant | NM_001349338.3(FOXP1):c.1429-1G>T | See cases [RCV003224079] | likely pathogenic | 3 | 70977043 | 70977043 | Human | | name |
| 401795885 | CV2742853 | single nucleotide variant | NM_001349338.3(FOXP1):c.1428+1G>C | not provided [RCV003325369] | likely pathogenic | 3 | 70977642 | 70977642 | Human | | name |
| 401856532 | CV2752562 | single nucleotide variant | NM_001349338.3(FOXP1):c.1349-1G>A | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003340900] | likely pathogenic | 3 | 70977723 | 70977723 | Human | 1 | name |
| 401926469 | CV2827554 | single nucleotide variant | NM_001349338.3(FOXP1):c.1722+6A>T | not provided [RCV003437906] | likely benign | 3 | 70970730 | 70970730 | Human | | name |
| 402515259 | CV2856642 | single nucleotide variant | NM_001349338.3(FOXP1):c.974+16T>C | not provided [RCV003575435] | likely benign | 3 | 71015533 | 71015533 | Human | | name |
| 402518372 | CV2877209 | single nucleotide variant | NM_001349338.3(FOXP1):c.869+17G>T | not provided [RCV003575661] | likely benign | 3 | 71041311 | 71041311 | Human | | name |
| 405205133 | CV2916168 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+13G>T | not provided [RCV003566401] | likely benign | 3 | 71198189 | 71198189 | Human | | name |
| 402501253 | CV2923107 | single nucleotide variant | NM_001349338.3(FOXP1):c.664+17C>G | not provided [RCV003573954] | likely benign | 3 | 71046925 | 71046925 | Human | | name |
| 11635800 | CV292838 | duplication | NM_001349338.3(FOXP1):c.1147-9dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000392267]|not provided [RCV003736737] | benign|uncertain significance | 3 | 70978037 | 70978038 | Human | 1 | name |
| 405113410 | CV2939169 | single nucleotide variant | NM_001349338.3(FOXP1):c.283-18C>A | not provided [RCV003666611] | likely benign | 3 | 71053791 | 71053791 | Human | | name |
| 402489868 | CV2948919 | single nucleotide variant | NM_001349338.3(FOXP1):c.510+13C>T | not provided [RCV003660444] | likely benign | 3 | 71052524 | 71052524 | Human | | name |
| 405161250 | CV2950358 | single nucleotide variant | NM_001349338.3(FOXP1):c.1889+7A>G | not provided [RCV003674700] | likely benign | 3 | 70965883 | 70965883 | Human | | name |
| 11595390 | CV296152 | single nucleotide variant | NM_001349338.3(FOXP1):c.975-14A>G | not provided [RCV002192240] | benign|likely benign | 3 | 71001073 | 71001073 | Human | | name |
| 405240883 | CV2970634 | single nucleotide variant | NM_001349338.3(FOXP1):c.420+10C>T | not provided [RCV003684044] | likely benign | 3 | 71053626 | 71053626 | Human | | name |
| 405202740 | CV2989295 | single nucleotide variant | NM_001349338.3(FOXP1):c.420+10C>A | not provided [RCV003678349] | likely benign | 3 | 71053626 | 71053626 | Human | | name |
| 402479432 | CV2990893 | single nucleotide variant | NM_001349338.3(FOXP1):c.1889+7A>T | not provided [RCV003686441] | uncertain significance | 3 | 70965883 | 70965883 | Human | | name |
| 402475647 | CV3000741 | single nucleotide variant | NM_001349338.3(FOXP1):c.1722+5G>C | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003883223]|not provided [RCV003721360] | likely pathogenic|uncertain significance | 3 | 70970731 | 70970731 | Human | 1 | name |
| 405095867 | CV3019138 | single nucleotide variant | NM_001349338.3(FOXP1):c.1147-3C>T | not provided [RCV003700083] | uncertain significance | 3 | 70978032 | 70978032 | Human | | name |
| 405085854 | CV3028275 | single nucleotide variant | NM_001349338.3(FOXP1):c.1146+5G>A | not provided [RCV003699321] | uncertain significance | 3 | 70987989 | 70987989 | Human | | name |
| 402510523 | CV3042503 | single nucleotide variant | NM_001349338.3(FOXP1):c.283-14C>T | not provided [RCV003715628] | likely benign | 3 | 71053787 | 71053787 | Human | | name |
| 405202704 | CV3129346 | single nucleotide variant | NM_001349338.3(FOXP1):c.1063-5G>A | FOXP1-related disorder [RCV003921366]|not provided [RCV003822199] | likely benign | 3 | 70988082 | 70988082 | Human | 1 | name , alternate_id |
| 405138705 | CV3130740 | single nucleotide variant | NM_001349338.3(FOXP1):c.421-15C>T | not provided [RCV003838974] | likely benign | 3 | 71052641 | 71052641 | Human | | name |
| 405138660 | CV3130741 | single nucleotide variant | NM_001349338.3(FOXP1):c.421-20G>A | not provided [RCV003838975] | likely benign | 3 | 71052646 | 71052646 | Human | | name |
| 405057219 | CV3134873 | single nucleotide variant | NM_001349338.3(FOXP1):c.1147-9T>C | not provided [RCV003832545] | likely benign | 3 | 70978038 | 70978038 | Human | | name |
| 405143432 | CV3141345 | single nucleotide variant | NM_001349338.3(FOXP1):c.665-17C>T | not provided [RCV003839461] | likely benign | 3 | 71041549 | 71041549 | Human | | name |
| 405219616 | CV3154269 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-16T>C | not provided [RCV003846961] | likely benign | 3 | 71112653 | 71112653 | Human | | name |
| 405223069 | CV3154955 | single nucleotide variant | NM_001349338.3(FOXP1):c.870-14G>A | not provided [RCV003847451] | likely benign | 3 | 71015667 | 71015667 | Human | | name |
| 405089127 | CV3167501 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-14G>A | not provided [RCV003852084] | likely benign | 3 | 71112651 | 71112651 | Human | | name |
| 405255462 | CV3172388 | single nucleotide variant | NM_001349338.3(FOXP1):c.511-12G>A | not provided [RCV003872326] | likely benign | 3 | 71047107 | 71047107 | Human | | name |
| 402464143 | CV3172653 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+18C>G | not provided [RCV003872591] | likely benign | 3 | 71198184 | 71198184 | Human | | name |
| 405004393 | CV3184545 | single nucleotide variant | NM_001349338.3(FOXP1):c.1429-3C>G | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003883334]|not provided [RCV005101446] | uncertain significance | 3 | 70977045 | 70977045 | Human | 1 | name |
| 407477616 | CV3495173 | single nucleotide variant | NM_001349338.3(FOXP1):c.510+10A>G | not specified [RCV004691076] | likely benign | 3 | 71052527 | 71052527 | Human | | name |
| 407503239 | CV3495788 | single nucleotide variant | NM_001349338.3(FOXP1):c.1889+5G>A | not provided [RCV004697628] | likely pathogenic | 3 | 70965885 | 70965885 | Human | | name |
| 596922604 | CV3537305 | single nucleotide variant | NM_001349338.3(FOXP1):c.-168+2T>G | not provided [RCV004787275] | uncertain significance | 3 | 71493424 | 71493424 | Human | | name |
| 12741683 | CV361123 | single nucleotide variant | NM_001349338.3(FOXP1):c.1348+2T>C | Autism [RCV000414900] | likely pathogenic | 3 | 70977826 | 70977826 | Human | 2 | name |
| 12849514 | CV363984 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-13T>G | not provided [RCV000431256] | benign|likely benign | 3 | 71112650 | 71112650 | Human | | name |
| 597927616 | CV3783492 | single nucleotide variant | NM_001349338.3(FOXP1):c.1723-6T>C | not provided [RCV005116179] | likely benign | 3 | 70966062 | 70966062 | Human | | name |
| 597883622 | CV3784283 | single nucleotide variant | NM_001349338.3(FOXP1):c.1653-6A>G | not provided [RCV005124571] | likely benign | 3 | 70970811 | 70970811 | Human | | name |
| 597890830 | CV3784803 | single nucleotide variant | NM_001349338.3(FOXP1):c.283-17C>G | not provided [RCV005125582] | likely benign | 3 | 71053790 | 71053790 | Human | | name |
| 597960167 | CV3797976 | single nucleotide variant | NM_001349338.3(FOXP1):c.421-17C>A | not provided [RCV005138450] | likely benign | 3 | 71052643 | 71052643 | Human | | name |
| 597972142 | CV3829478 | duplication | NM_001349338.3(FOXP1):c.1890-5dup | not provided [RCV005167265] | benign | 3 | 70959395 | 70959396 | Human | | name |
| 597961988 | CV3840898 | single nucleotide variant | NM_001349338.3(FOXP1):c.1146+7A>G | not provided [RCV005193191] | likely benign | 3 | 70987987 | 70987987 | Human | | name |
| 598121830 | CV3883460 | single nucleotide variant | NM_001349338.3(FOXP1):c.1063-2A>G | Neurodevelopmental abnormality [RCV005235835] | pathogenic | 3 | 70988079 | 70988079 | Human | 2 | name |
| 598125055 | CV3883788 | single nucleotide variant | NM_001349338.3(FOXP1):c.-297-1G>A | not provided [RCV005236143] | uncertain significance | 3 | 71493556 | 71493556 | Human | | name |
| 617148467 | CV4017005 | single nucleotide variant | NM_001349338.3(FOXP1):c.1722+4A>G | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005416152] | uncertain significance | 3 | 70970732 | 70970732 | Human | 1 | name |
| 13446223 | CV438248 | single nucleotide variant | NM_001349338.3(FOXP1):c.1722+1G>A | not provided [RCV000513438] | likely pathogenic | 3 | 70970735 | 70970735 | Human | | name |
| 13474978 | CV443514 | single nucleotide variant | NM_001349338.3(FOXP1):c.1146+5G>C | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003225947]|not provided [RCV000519777] | pathogenic|likely pathogenic|uncertain significance | 3 | 70987989 | 70987989 | Human | 1 | name |
| 13509360 | CV481702 | single nucleotide variant | NM_001349338.3(FOXP1):c.1889+1G>T | not provided [RCV000579360] | pathogenic | 3 | 70965889 | 70965889 | Human | | name |
| 13520603 | CV495468 | single nucleotide variant | NM_001349338.3(FOXP1):c.1889+5G>T | not provided [RCV000598768] | likely pathogenic | 3 | 70965885 | 70965885 | Human | | name |
| 13794545 | CV552076 | single nucleotide variant | NM_001349338.3(FOXP1):c.1653-2A>T | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000679990]|not provided [RCV004719942] | pathogenic | 3 | 70970807 | 70970807 | Human | 1 | name |
| 13797970 | CV553168 | single nucleotide variant | NM_001349338.3(FOXP1):c.1652+4C>T | Inborn genetic diseases [RCV002315988]|Intellectual disability [RCV000681493]|not provided [RCV003106020] | likely benign|uncertain significance | 3 | 70972551 | 70972551 | Human | 3 | name |
| 13827742 | CV578654 | single nucleotide variant | NM_001349338.3(FOXP1):c.1348+1G>C | Autism [RCV000714977] | pathogenic | 3 | 70977827 | 70977827 | Human | 2 | name |
| 13829465 | CV579090 | single nucleotide variant | NM_001349338.3(FOXP1):c.1890-4C>T | Inborn genetic diseases [RCV002315315]|not provided [RCV002534565] | likely benign|uncertain significance | 3 | 70959395 | 70959395 | Human | 1 | name |
| 14395617 | CV611463 | single nucleotide variant | NM_001349338.3(FOXP1):c.1147-2A>G | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000760179] | likely pathogenic | 3 | 70978031 | 70978031 | Human | 1 | name |
| 14691320 | CV621730 | single nucleotide variant | NM_001349338.3(FOXP1):c.1146+1G>C | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000781385] | likely pathogenic | 3 | 70987993 | 70987993 | Human | 1 | name |
| 14704199 | CV651090 | single nucleotide variant | NM_001349338.3(FOXP1):c.1146+1G>T | not provided [RCV000796761] | pathogenic|likely pathogenic | 3 | 70987993 | 70987993 | Human | | name |
| 14979438 | CV678956 | single nucleotide variant | NM_001349338.3(FOXP1):c.1653-1G>A | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000851515] | pathogenic | 3 | 70970806 | 70970806 | Human | 1 | name |
| 14979441 | CV678957 | single nucleotide variant | NM_001349338.3(FOXP1):c.1146+1G>A | Inborn genetic diseases [RCV004973027]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000851517]|not provided [RCV001543488] | pathogenic | 3 | 70987993 | 70987993 | Human | 2 | name |
| 15186028 | CV744128 | single nucleotide variant | NM_001349338.3(FOXP1):c.1428+9A>G | FOXP1-related disorder [RCV003932938]|not provided [RCV000908693] | benign|likely benign | 3 | 70977634 | 70977634 | Human | 1 | name , alternate_id |
| 15157556 | CV759240 | single nucleotide variant | NM_001349338.3(FOXP1):c.1531-6C>T | FOXP1-related disorder [RCV003913121]|not provided [RCV000924885] | likely benign | 3 | 70972682 | 70972682 | Human | 1 | name , alternate_id |
| 15106063 | CV774860 | single nucleotide variant | NM_001349338.3(FOXP1):c.1428+8A>G | not provided [RCV000937713] | likely benign | 3 | 70977635 | 70977635 | Human | | name |
| 40814518 | CV969346 | single nucleotide variant | NM_001349338.3(FOXP1):c.1652+5G>C | Inborn genetic diseases [RCV002541570]|Intellectual disability [RCV001260762] | pathogenic|likely pathogenic | 3 | 70972550 | 70972550 | Human | 3 | name |
| 8643137 | CV102120 | single nucleotide variant | NM_001349338.3(FOXP1):c.1147-19G>A | not provided [RCV002055225]|not specified [RCV000082305] | benign | 3 | 70978048 | 70978048 | Human | | name |
| 8643139 | CV102122 | single nucleotide variant | NM_001349338.3(FOXP1):c.1889+20C>A | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001701660]|not provided [RCV002055226]|not specified [RCV000082307] | benign | 3 | 70965870 | 70965870 | Human | 1 | name |
| 150335831 | CV1171172 | single nucleotide variant | NM_001349338.3(FOXP1):c.975-231G>A | not provided [RCV001540724] | benign | 3 | 71001290 | 71001290 | Human | | name |
| 150330767 | CV1171173 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+537A>T | not provided [RCV001538267] | benign | 3 | 71197665 | 71197665 | Human | | name |
| 150426119 | CV1183399 | single nucleotide variant | NM_001349338.3(FOXP1):c.1429-70C>T | not provided [RCV001558934] | likely benign | 3 | 70977112 | 70977112 | Human | | name |
| 150426311 | CV1186669 | single nucleotide variant | NM_001349338.3(FOXP1):c.1722+63A>G | not provided [RCV001559409] | likely benign | 3 | 70970673 | 70970673 | Human | | name |
| 150428502 | CV1186670 | single nucleotide variant | NM_001349338.3(FOXP1):c.282+211T>C | not provided [RCV001562346] | likely benign | 3 | 71112325 | 71112325 | Human | | name |
| 150426854 | CV1186671 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+289C>T | not provided [RCV001560124] | likely benign | 3 | 71197913 | 71197913 | Human | | name |
| 150409460 | CV1190101 | single nucleotide variant | NM_001349338.3(FOXP1):c.511-248G>C | not provided [RCV001565675] | likely benign | 3 | 71047343 | 71047343 | Human | | name |
| 150408759 | CV1190102 | single nucleotide variant | NM_001349338.3(FOXP1):c.510+108T>C | not provided [RCV001565435] | likely benign | 3 | 71052429 | 71052429 | Human | | name |
| 150415945 | CV1197140 | single nucleotide variant | NM_001349338.3(FOXP1):c.869+134G>A | not provided [RCV001575621] | likely benign | 3 | 71041194 | 71041194 | Human | | name |
| 150476259 | CV1203012 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-262T>C | not provided [RCV001589606] | likely benign | 3 | 71112899 | 71112899 | Human | | name |
| 150438906 | CV1221232 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-321C>G | not provided [RCV001609926] | benign | 3 | 71112958 | 71112958 | Human | | name |
| 150517510 | CV1226960 | single nucleotide variant | NM_001349338.3(FOXP1):c.664+264C>T | not provided [RCV001640056] | benign | 3 | 71046678 | 71046678 | Human | | name |
| 150511149 | CV1229370 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-213C>T | not provided [RCV001637298] | benign | 3 | 71112850 | 71112850 | Human | | name |
| 150451471 | CV1232806 | single nucleotide variant | NM_001349338.3(FOXP1):c.1530+45A>G | not provided [RCV001647881] | benign | 3 | 70976896 | 70976896 | Human | | name |
| 150492145 | CV1253879 | single nucleotide variant | NM_001349338.3(FOXP1):c.974+133G>A | not provided [RCV001674975] | benign | 3 | 71015416 | 71015416 | Human | | name |
| 150470436 | CV1258585 | single nucleotide variant | NM_001349338.3(FOXP1):c.420+243A>G | not provided [RCV001684130] | benign | 3 | 71053393 | 71053393 | Human | | name |
| 150442225 | CV1264398 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+435G>A | not provided [RCV001679381] | benign | 3 | 71197767 | 71197767 | Human | | name |
| 150442326 | CV1266211 | single nucleotide variant | NM_001349338.3(FOXP1):c.283-212A>G | not provided [RCV001690647] | benign | 3 | 71053985 | 71053985 | Human | | name |
| 150478508 | CV1271070 | single nucleotide variant | NM_001349338.3(FOXP1):c.1428+90G>C | not provided [RCV001696506] | benign | 3 | 70977553 | 70977553 | Human | | name |
| 150475142 | CV1278998 | single nucleotide variant | NM_001349338.3(FOXP1):c.974+269A>T | not provided [RCV001713798] | benign | 3 | 71015280 | 71015280 | Human | 3 | name |
| 152127152 | CV1581016 | single nucleotide variant | NM_001349338.3(FOXP1):c.1348+15T>G | not provided [RCV002098976] | likely benign | 3 | 70977813 | 70977813 | Human | | name |
| 152162395 | CV1584809 | single nucleotide variant | NM_001349338.3(FOXP1):c.1722+15C>T | not provided [RCV002123438] | likely benign | 3 | 70970721 | 70970721 | Human | | name |
| 152122583 | CV1613427 | single nucleotide variant | NM_001349338.3(FOXP1):c.1722+16G>A | not provided [RCV002154448] | benign | 3 | 70970720 | 70970720 | Human | | name |
| 152103913 | CV1645374 | single nucleotide variant | NM_001349338.3(FOXP1):c.1652+12A>G | not provided [RCV002133608] | likely benign | 3 | 70972543 | 70972543 | Human | | name |
| 156182949 | CV1954813 | single nucleotide variant | NM_001349338.3(FOXP1):c.1428+16A>G | not provided [RCV002574172] | likely benign | 3 | 70977627 | 70977627 | Human | | name |
| 156328095 | CV1956507 | single nucleotide variant | NM_001349338.3(FOXP1):c.1147-13T>C | not provided [RCV002579838] | likely benign | 3 | 70978042 | 70978042 | Human | | name |
| 156149553 | CV1964204 | single nucleotide variant | NM_001349338.3(FOXP1):c.1147-17T>C | not provided [RCV002572853] | likely benign | 3 | 70978046 | 70978046 | Human | | name |
| 156193960 | CV1970825 | single nucleotide variant | NM_001349338.3(FOXP1):c.1428+15C>T | not provided [RCV002625507] | likely benign | 3 | 70977628 | 70977628 | Human | | name |
| 156069750 | CV1971747 | single nucleotide variant | NM_001349338.3(FOXP1):c.1530+15G>A | not provided [RCV002591236] | likely benign | 3 | 70976926 | 70976926 | Human | | name |
| 156119005 | CV1972965 | duplication | NM_001349338.3(FOXP1):c.1146+12dup | not provided [RCV002593055] | likely benign | 3 | 70987981 | 70987982 | Human | | name |
| 156261189 | CV1977554 | single nucleotide variant | NM_001349338.3(FOXP1):c.1890-17C>T | not provided [RCV002597787] | benign | 3 | 70959408 | 70959408 | Human | | name |
| 156326267 | CV1980606 | single nucleotide variant | NM_001349338.3(FOXP1):c.1147-20C>T | not provided [RCV002630670] | likely benign | 3 | 70978049 | 70978049 | Human | | name |
| 156256932 | CV1981960 | single nucleotide variant | NM_001349338.3(FOXP1):c.1146+19C>T | not provided [RCV002646083] | likely benign | 3 | 70987975 | 70987975 | Human | | name |
| 156011439 | CV1985941 | single nucleotide variant | NM_001349338.3(FOXP1):c.1146+14C>T | not provided [RCV002636244] | benign | 3 | 70987980 | 70987980 | Human | | name |
| 156228646 | CV1991692 | single nucleotide variant | NM_001349338.3(FOXP1):c.1429-18T>C | not provided [RCV002626711] | likely benign | 3 | 70977060 | 70977060 | Human | | name |
| 156091908 | CV1994394 | single nucleotide variant | NM_001349338.3(FOXP1):c.1722+11C>T | not provided [RCV002639251] | likely benign | 3 | 70970725 | 70970725 | Human | | name |
| 156337749 | CV1997331 | single nucleotide variant | NM_001349338.3(FOXP1):c.1530+16C>G | not provided [RCV002650157] | likely benign | 3 | 70976925 | 70976925 | Human | | name |
| 156342974 | CV1998364 | single nucleotide variant | NM_001349338.3(FOXP1):c.1147-11T>C | not provided [RCV002650417] | likely benign | 3 | 70978040 | 70978040 | Human | | name |
| 156354958 | CV2008800 | single nucleotide variant | NM_001349338.3(FOXP1):c.1349-17C>T | not provided [RCV002720457] | likely benign | 3 | 70977739 | 70977739 | Human | | name |
| 155972368 | CV2021661 | single nucleotide variant | NM_001349338.3(FOXP1):c.1428+11A>C | not provided [RCV002754952] | likely benign | 3 | 70977632 | 70977632 | Human | | name |
| 156377995 | CV2024920 | single nucleotide variant | NM_001349338.3(FOXP1):c.1428+17G>A | not provided [RCV002722084] | likely benign | 3 | 70977626 | 70977626 | Human | | name |
| 156286506 | CV2061901 | single nucleotide variant | NM_001349338.3(FOXP1):c.1348+14C>T | not provided [RCV002833027] | likely benign | 3 | 70977814 | 70977814 | Human | | name |
| 156180653 | CV2068443 | single nucleotide variant | NM_001349338.3(FOXP1):c.1530+14G>A | not provided [RCV002851825] | likely benign | 3 | 70976927 | 70976927 | Human | | name |
| 156089379 | CV2092281 | single nucleotide variant | NM_001349338.3(FOXP1):c.1348+14C>G | not provided [RCV002912983] | likely benign | 3 | 70977814 | 70977814 | Human | | name |
| 156359792 | CV2126360 | single nucleotide variant | NM_001349338.3(FOXP1):c.1429-19G>C | not provided [RCV002966906] | likely benign | 3 | 70977061 | 70977061 | Human | | name |
| 156161399 | CV2147405 | single nucleotide variant | NM_001349338.3(FOXP1):c.1530+12C>T | not provided [RCV003023206] | likely benign | 3 | 70976929 | 70976929 | Human | | name |
| 156060399 | CV2155029 | single nucleotide variant | NM_001349338.3(FOXP1):c.1429-11C>G | not provided [RCV003000182] | likely benign | 3 | 70977053 | 70977053 | Human | | name |
| 156015783 | CV2177461 | single nucleotide variant | NM_001349338.3(FOXP1):c.1428+20T>C | not provided [RCV003035476] | likely benign | 3 | 70977623 | 70977623 | Human | | name |
| 156400113 | CV2186002 | single nucleotide variant | NM_001349338.3(FOXP1):c.1889+11T>C | not provided [RCV003052230] | likely benign | 3 | 70965879 | 70965879 | Human | | name |
| 329352798 | CV2476911 | single nucleotide variant | NM_001349338.3(FOXP1):c.869+943G>C | not provided [RCV003223143] | likely benign | 3 | 71040385 | 71040385 | Human | | name |
| 329952716 | CV2670058 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+200C>A | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003233270] | not provided | 3 | 71198002 | 71198002 | Human | | name |
| 401922302 | CV2827557 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+262T>G | not provided [RCV003433666] | uncertain significance | 3 | 71197940 | 71197940 | Human | | name |
| 401922303 | CV2827558 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+230T>C | not provided [RCV003433667] | likely benign | 3 | 71197972 | 71197972 | Human | | name |
| 402483197 | CV2860762 | single nucleotide variant | NM_001349338.3(FOXP1):c.1146+13C>G | not provided [RCV003544226] | likely benign | 3 | 70987981 | 70987981 | Human | | name |
| 405091677 | CV2878094 | deletion | NM_001349338.3(FOXP1):c.1062+14del | not provided [RCV003549946] | likely benign | 3 | 71000958 | 71000958 | Human | | name |
| 405202316 | CV2918868 | single nucleotide variant | NM_001349338.3(FOXP1):c.1147-10T>C | not provided [RCV003566068] | likely benign | 3 | 70978039 | 70978039 | Human | | name |
| 11646639 | CV292726 | microsatellite | NM_001349338.3(FOXP1):c.*3415CG[4] | Intellectual Disability with Language Impairment and Autistic Features [RCV000272113] | uncertain significance | 3 | 70955826 | 70955827 | Human | | name |
| 11591678 | CV292835 | single nucleotide variant | NM_001349338.3(FOXP1):c.1890-15G>T | not provided [RCV001696354] | benign | 3 | 70959406 | 70959406 | Human | | name |
| 405144066 | CV2946088 | single nucleotide variant | NM_001349338.3(FOXP1):c.1722+20C>T | not provided [RCV003669515] | likely benign | 3 | 70970716 | 70970716 | Human | | name |
| 11661955 | CV296052 | microsatellite | NM_001349338.3(FOXP1):c.*3417TG[3] | Intellectual Disability with Language Impairment and Autistic Features [RCV000381718] | uncertain significance | 3 | 70955830 | 70955831 | Human | | name |
| 11598489 | CV296146 | microsatellite | NM_001349338.3(FOXP1):c.*2202GA[1] | Intellectual Disability with Language Impairment and Autistic Features [RCV000406398] | uncertain significance | 3 | 70957042 | 70957043 | Human | | name |
| 11595730 | CV296149 | single nucleotide variant | NM_001349338.3(FOXP1):c.1722+12G>A | not provided [RCV002138423] | benign|likely benign | 3 | 70970724 | 70970724 | Human | | name |
| 405187112 | CV2964143 | single nucleotide variant | NM_001349338.3(FOXP1):c.1890-16T>C | not provided [RCV003676855] | likely benign | 3 | 70959407 | 70959407 | Human | | name |
| 405214879 | CV2981522 | single nucleotide variant | NM_001349338.3(FOXP1):c.1349-20G>T | not provided [RCV003709183] | likely benign | 3 | 70977742 | 70977742 | Human | | name |
| 405095960 | CV3019151 | single nucleotide variant | NM_001349338.3(FOXP1):c.1723-14T>G | not provided [RCV003700090] | likely benign | 3 | 70966070 | 70966070 | Human | | name |
| 402506198 | CV3039121 | single nucleotide variant | NM_001349338.3(FOXP1):c.1348+19G>C | not provided [RCV003715223] | likely benign | 3 | 70977809 | 70977809 | Human | | name |
| 405086599 | CV3133969 | single nucleotide variant | NM_001349338.3(FOXP1):c.1530+13A>G | not provided [RCV003834507] | likely benign | 3 | 70976928 | 70976928 | Human | | name |
| 405148659 | CV3141969 | single nucleotide variant | NM_001349338.3(FOXP1):c.1429-20T>C | not provided [RCV003839891] | likely benign | 3 | 70977062 | 70977062 | Human | | name |
| 405226640 | CV3142558 | single nucleotide variant | NM_001349338.3(FOXP1):c.1653-17A>C | not provided [RCV003848097] | likely benign | 3 | 70970822 | 70970822 | Human | | name |
| 405047828 | CV3150733 | single nucleotide variant | NM_001349338.3(FOXP1):c.1146+13C>A | not provided [RCV003849336] | likely benign | 3 | 70987981 | 70987981 | Human | | name |
| 405205173 | CV3165639 | single nucleotide variant | NM_001349338.3(FOXP1):c.1890-10T>A | not provided [RCV003861305] | likely benign | 3 | 70959401 | 70959401 | Human | | name |
| 405212023 | CV3173478 | single nucleotide variant | NM_001349338.3(FOXP1):c.1653-17A>G | not provided [RCV003862227] | likely benign | 3 | 70970822 | 70970822 | Human | | name |
| 405269187 | CV3187238 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+212G>A | not provided [RCV003887322] | uncertain significance | 3 | 71197990 | 71197990 | Human | | name |
| 405288827 | CV3209928 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+209T>C | FOXP1-related disorder [RCV003961419] | likely benign | 3 | 71197993 | 71197993 | Human | | name , trait , alternate_id |
| 597669534 | CV3669802 | single nucleotide variant | NM_001349338.3(FOXP1):c.180+239G>A | Inborn genetic diseases [RCV004980075] | likely benign | 3 | 71197963 | 71197963 | Human | 1 | name |
| 597966037 | CV3751483 | single nucleotide variant | NM_001349338.3(FOXP1):c.1063-18G>A | not provided [RCV005082852] | likely benign | 3 | 70988095 | 70988095 | Human | | name |
| 597949292 | CV3759324 | single nucleotide variant | NM_001349338.3(FOXP1):c.1429-14A>C | not provided [RCV005079121] | likely benign | 3 | 70977056 | 70977056 | Human | | name |
| 597919593 | CV3811669 | single nucleotide variant | NM_001349338.3(FOXP1):c.1723-13T>C | not provided [RCV005155500] | likely benign | 3 | 70966069 | 70966069 | Human | | name |
| 597862529 | CV3813916 | single nucleotide variant | NM_001349338.3(FOXP1):c.1722+15C>G | not provided [RCV005146985] | likely benign | 3 | 70970721 | 70970721 | Human | | name |
| 597862424 | CV3822659 | single nucleotide variant | NM_001349338.3(FOXP1):c.1147-13T>G | not provided [RCV005175190] | likely benign | 3 | 70978042 | 70978042 | Human | | name |
| 597972158 | CV3829487 | single nucleotide variant | NM_001349338.3(FOXP1):c.1146+16C>T | not provided [RCV005167274] | likely benign | 3 | 70987978 | 70987978 | Human | | name |
| 597911781 | CV3850574 | single nucleotide variant | NM_001349338.3(FOXP1):c.1530+17C>A | not provided [RCV005203723] | likely benign | 3 | 70976924 | 70976924 | Human | | name |
| 616933539 | CV4013647 | deletion | NM_001349338.3(FOXP1):c.180+147del | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005411146] | likely pathogenic | 3 | 71198055 | 71198055 | Human | 1 | name |
| 13462578 | CV438838 | single nucleotide variant | NM_001349338.3(FOXP1):c.1146+19C>G | not provided [RCV000514403] | benign|likely benign | 3 | 70987975 | 70987975 | Human | | name |
| 150333937 | CV1169009 | single nucleotide variant | NM_001349338.3(FOXP1):c.1146+151T>C | not provided [RCV001537543] | benign | 3 | 70987843 | 70987843 | Human | | name |
| 150412335 | CV1176393 | single nucleotide variant | NM_001349338.3(FOXP1):c.1652+839C>G | not provided [RCV001547496] | likely benign | 3 | 70971716 | 70971716 | Human | | name |
| 150419312 | CV1179767 | single nucleotide variant | NM_001349338.3(FOXP1):c.1428+173A>G | not provided [RCV001550992] | likely benign | 3 | 70977470 | 70977470 | Human | | name |
| 150428722 | CV1186668 | single nucleotide variant | NM_001349338.3(FOXP1):c.1890-137G>A | not provided [RCV001562643] | likely benign | 3 | 70959528 | 70959528 | Human | | name |
| 150413666 | CV1190099 | single nucleotide variant | NM_001349338.3(FOXP1):c.1062+265G>A | not provided [RCV001567272] | likely benign | 3 | 71000707 | 71000707 | Human | | name |
| 150420873 | CV1193380 | single nucleotide variant | NM_001349338.3(FOXP1):c.1722+179C>T | not provided [RCV001570306] | likely benign | 3 | 70970557 | 70970557 | Human | | name |
| 150474109 | CV1217744 | single nucleotide variant | NM_001349338.3(FOXP1):c.1722+137A>G | not provided [RCV001615755] | benign | 3 | 70970599 | 70970599 | Human | 1 | name |
| 150510599 | CV1242437 | single nucleotide variant | NM_001349338.3(FOXP1):c.1889+149A>G | not provided [RCV001660787] | benign | 3 | 70965741 | 70965741 | Human | | name |
| 150446633 | CV1261392 | single nucleotide variant | NM_001349338.3(FOXP1):c.1530+157G>A | not provided [RCV001680066] | benign | 3 | 70976784 | 70976784 | Human | | name |
| 150476748 | CV1262403 | single nucleotide variant | NM_001349338.3(FOXP1):c.1652+806A>C | not provided [RCV001685215] | benign | 3 | 70971749 | 70971749 | Human | | name |
| 150497946 | CV1281659 | single nucleotide variant | NM_001349338.3(FOXP1):c.1889+205A>G | not provided [RCV001717933] | benign | 3 | 70965685 | 70965685 | Human | | name |
| 151350112 | CV1324598 | single nucleotide variant | NM_001349338.3(FOXP1):c.1147-350G>A | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001809043] | uncertain significance | 3 | 70978379 | 70978379 | Human | 1 | name |
| 153001015 | CV1684048 | single nucleotide variant | NM_001349338.3(FOXP1):c.1652+418G>A | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002254898] | uncertain significance | 3 | 70972137 | 70972137 | Human | 1 | name |
| 155798197 | CV1861901 | duplication | NM_001349338.3(FOXP1):c.1652+546dup | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002471304] | uncertain significance | 3 | 70972008 | 70972009 | Human | 1 | name |
| 155958826 | CV1936415 | single nucleotide variant | NM_001349338.3(FOXP1):c.1652+540G>A | FOXP1-related disorder [RCV003961061]|not provided [RCV002512230] | benign|likely benign | 3 | 70972015 | 70972015 | Human | 1 | name , alternate_id |
| 401926470 | CV2827555 | single nucleotide variant | NM_001349338.3(FOXP1):c.1652+515C>T | not provided [RCV003437907] | likely benign | 3 | 70972040 | 70972040 | Human | | name |
| 401922301 | CV2827556 | single nucleotide variant | NM_001349338.3(FOXP1):c.1652+436G>A | not provided [RCV003433665] | uncertain significance | 3 | 70972119 | 70972119 | Human | | name |
| 11635360 | CV291487 | microsatellite | NM_001349338.3(FOXP1):c.*3391TG[16] | Intellectual Disability with Language Impairment and Autistic Features [RCV000338746] | uncertain significance | 3 | 70955832 | 70955833 | Human | | name |
| 11651267 | CV292730 | microsatellite | NM_001349338.3(FOXP1):c.*3391TG[11] | Intellectual Disability with Language Impairment and Autistic Features [RCV000298105]|not provided [RCV004695762] | uncertain significance | 3 | 70955833 | 70955834 | Human | | name |
| 11635713 | CV292742 | microsatellite | NM_001349338.3(FOXP1):c.*3391TG[13] | Intellectual Disability with Language Impairment and Autistic Features [RCV000387309]|not provided [RCV004695760] | uncertain significance | 3 | 70955832 | 70955833 | Human | | name |
| 11591981 | CV296054 | microsatellite | NM_001349338.3(FOXP1):c.*3391TG[10] | Intellectual Disability with Language Impairment and Autistic Features [RCV000334331]|not provided [RCV003221944] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 70955833 | 70955836 | Human | | name |
| 11634971 | CV296066 | microsatellite | NM_001349338.3(FOXP1):c.*3391TG[14] | Intellectual Disability with Language Impairment and Autistic Features [RCV000293087]|not provided [RCV004695761] | uncertain significance | 3 | 70955832 | 70955833 | Human | | name |
| 11635623 | CV296156 | duplication | NM_032682.6(FOXP1):c.*1352_*1355dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000376707] | likely benign | 3 | 70957891 | 70957892 | Human | | name |
| 405255924 | CV3208450 | single nucleotide variant | NM_001349338.3(FOXP1):c.1652+380C>G | FOXP1-related disorder [RCV003939546] | likely benign | 3 | 70972175 | 70972175 | Human | | name , trait , alternate_id |
| 407426443 | CV3409948 | single nucleotide variant | NM_001349338.3(FOXP1):c.1652+489C>G | not provided [RCV004585880] | uncertain significance | 3 | 70972066 | 70972066 | Human | | name |
| 12849646 | CV363694 | single nucleotide variant | NM_001349338.3(FOXP1):c.1652+403A>G | FOXP1-related disorder [RCV003902463]|not provided [RCV000433534] | benign|likely benign | 3 | 70972152 | 70972152 | Human | 1 | name , alternate_id |
| 150404880 | CV1189399 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-18031T>C | Disorder of sexual differentiation [RCV001564027] | uncertain significance | 3 | 71130668 | 71130668 | Human | 1 | name |
| 150466965 | CV1255828 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-18054A>G | not provided [RCV001670462] | benign | 3 | 71130691 | 71130691 | Human | | name |
| 10449915 | CV215294 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-17952C>T | not provided [RCV004692812]|not specified [RCV000203107] | uncertain significance | 3 | 71130589 | 71130589 | Human | | name |
| 401924402 | CV2801021 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-17860G>C | FOXP1-related disorder [RCV003404610] | uncertain significance | 3 | 71130497 | 71130497 | Human | | name , trait , alternate_id |
| 11663075 | CV291547 | deletion | NM_001349338.3(FOXP1):c.*510_*511del | Intellectual Disability with Language Impairment and Autistic Features [RCV000391958] | uncertain significance | 3 | 70958736 | 70958737 | Human | 1 | name |
| 11651990 | CV291551 | deletion | NM_001349338.3(FOXP1):c.*479_*480del | Intellectual Disability with Language Impairment and Autistic Features [RCV000302088] | uncertain significance | 3 | 70958767 | 70958768 | Human | 1 | name |
| 11634887 | CV292791 | duplication | NM_001349338.3(FOXP1):c.*923_*928dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000288860] | benign | 3 | 70958318 | 70958319 | Human | 1 | name |
| 11662736 | CV296160 | duplication | NM_001349338.3(FOXP1):c.*740_*743dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000389152] | uncertain significance | 3 | 70958503 | 70958504 | Human | 1 | name |
| 11598371 | CV296165 | deletion | NM_001349338.3(FOXP1):c.*507_*509del | Intellectual Disability with Language Impairment and Autistic Features [RCV000404636] | uncertain significance | 3 | 70958738 | 70958740 | Human | 1 | name |
| 405280287 | CV3193941 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-18007C>G | FOXP1-related disorder [RCV003983444] | uncertain significance | 3 | 71130644 | 71130644 | Human | | name , trait , alternate_id |
| 405272330 | CV3198604 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-17970A>G | FOXP1-related disorder [RCV003903931] | benign | 3 | 71130607 | 71130607 | Human | | name , trait , alternate_id |
| 405276012 | CV3215222 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-17966G>A | FOXP1-related disorder [RCV003942261] | likely benign | 3 | 71130603 | 71130603 | Human | | name , trait , alternate_id |
| 405266022 | CV3220993 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-17892G>A | FOXP1-related disorder [RCV003969136] | likely benign | 3 | 71130529 | 71130529 | Human | | name , trait , alternate_id |
| 405704123 | CV3225004 | single nucleotide variant | NM_001349338.3(FOXP1):c.282+16777A>G | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003989960] | uncertain significance | 3 | 71095759 | 71095759 | Human | 1 | name |
| 405699482 | CV3227167 | single nucleotide variant | NM_001349338.3(FOXP1):c.-11-36045A>C | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003993518] | uncertain significance | 3 | 71234437 | 71234437 | Human | 1 | name |
| 597870884 | CV3768242 | deletion | NM_001349338.3(FOXP1):c.511-6_511del | not provided [RCV005122621] | likely pathogenic | 3 | 71047095 | 71047101 | Human | | name |
| 13704813 | CV538978 | single nucleotide variant | NM_001349338.3(FOXP1):c.181-17916C>T | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000662040] | uncertain significance | 3 | 71130553 | 71130553 | Human | 1 | name |
| 153301080 | CV1688924 | single nucleotide variant | NM_001349338.3(FOXP1):c.-297-21308G>T | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002266652] | uncertain significance | 3 | 71514863 | 71514863 | Human | 1 | name |
| 11590792 | CV291540 | microsatellite | NM_001349338.3(FOXP1):c.*1027CTTTT[2] | Intellectual Disability with Language Impairment and Autistic Features [RCV000322605] | uncertain significance | 3 | 70958206 | 70958210 | Human | | name |
| 150542257 | CV1303572 | microsatellite | NM_001349338.3(FOXP1):c.665-7_665-4del | not provided [RCV001769262] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 71041536 | 71041539 | Human | | name |
| 155799589 | CV1862552 | duplication | NM_001349338.3(FOXP1):c.1147-1_1161dup | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002471959] | pathogenic | 3 | 70978014 | 70978015 | Human | 1 | name |
| 156293881 | CV2166400 | deletion | NM_001349338.3(FOXP1):c.1643_1652+3del | not provided [RCV003045252] | likely pathogenic | 3 | 70972552 | 70972564 | Human | | name |
| 11657480 | CV291506 | deletion | NM_001349338.3(FOXP1):c.*2473_*2482del | Intellectual Disability with Language Impairment and Autistic Features [RCV000341763] | uncertain significance | 3 | 70956765 | 70956774 | Human | 1 | name |
| 11664575 | CV291528 | duplication | NM_001349338.3(FOXP1):c.*1231_*1235dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000407204]|not provided [RCV003430887] | benign|uncertain significance | 3 | 70958011 | 70958012 | Human | 1 | name |
| 11658904 | CV291536 | duplication | NM_001349338.3(FOXP1):c.*1049_*1050dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000353006]|not provided [RCV004695765] | uncertain significance | 3 | 70958196 | 70958197 | Human | 1 | name |
| 11659501 | CV292780 | deletion | NM_001349338.3(FOXP1):c.*1037_*1040del | Intellectual Disability with Language Impairment and Autistic Features [RCV000358732] | uncertain significance | 3 | 70958207 | 70958210 | Human | 1 | name |
| 11655797 | CV292786 | duplication | NM_001349338.3(FOXP1):c.*1027_*1030dup | Intellectual Disability with Language Impairment and Autistic Features [RCV000328562] | uncertain significance | 3 | 70958216 | 70958217 | Human | 1 | name |
| 13210888 | CV424647 | deletion | NM_001349338.3(FOXP1):c.1349-5_1350del | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000496125] | pathogenic | 3 | 70977721 | 70977727 | Human | 1 | name |
| 13521478 | CV495197 | deletion | NM_001349338.3(FOXP1):c.1717_1722+5del | not provided [RCV000599485] | pathogenic | 3 | 70970731 | 70970741 | Human | | name |
| 13837790 | CV589083 | deletion | NM_001349338.3(FOXP1):c.1710_1722+2del | not provided [RCV000734311] | likely pathogenic | 3 | 70970734 | 70970748 | Human | | name |
| 21074970 | CV798537 | deletion | NM_001349338.3(FOXP1):c.1426_1428+1del | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000995770] | pathogenic|likely pathogenic | 3 | 70977642 | 70977645 | Human | 1 | name |
| 40887772 | CV973386 | duplication | NM_001349338.3(FOXP1):c.1531-9_1534dup | Inborn genetic diseases [RCV001267364] | pathogenic|uncertain significance | 3 | 70972672 | 70972673 | Human | 1 | name |
| 40903307 | CV975857 | deletion | NM_001349338.3(FOXP1):c.1718_1722+8del | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001269289] | pathogenic | 3 | 70970728 | 70970740 | Human | 1 | name |
| 156318184 | CV2111796 | duplication | NM_001349338.3(FOXP1):c.1709_1722+10dup | not provided [RCV002937582] | likely benign | 3 | 70970725 | 70970726 | Human | | name |
| 401830802 | CV2748305 | single nucleotide variant | NM_001349338.3(FOXP1):c.18G>T (p.Gly6=) | not provided [RCV003329914] | uncertain significance | 3 | 71198364 | 71198364 | Human | | name |
| 405064983 | CV2927439 | duplication | NM_001349338.3(FOXP1):c.1653-18_1668dup | not provided [RCV003580751] | uncertain significance | 3 | 70970789 | 70970790 | Human | | name |
| 11652639 | CV296080 | insertion | NM_001349338.3(FOXP1):c.*3677_*3678insA | Intellectual Disability with Language Impairment and Autistic Features [RCV000306081] | uncertain significance | 3 | 70955569 | 70955570 | Human | 1 | name |
| 408385372 | CV3520163 | duplication | NM_001349338.3(FOXP1):c.1640_1652+22dup | not provided [RCV004759984] | uncertain significance | 3 | 70972532 | 70972533 | Human | | name |
| 597647197 | CV3551567 | duplication | NM_001349338.3(FOXP1):c.1147-25_1161dup | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004819944] | uncertain significance | 3 | 70978014 | 70978015 | Human | 1 | name |
| 150417051 | CV1197139 | microsatellite | NM_001349338.3(FOXP1):c.1062+128ATTTT[9] | not provided [RCV001576136] | likely benign | 3 | 71000795 | 71000799 | Human | | name |
| 152069520 | CV1562405 | duplication | NM_001349338.3(FOXP1):c.1890-8_1890-5dup | not provided [RCV002169113] | likely benign | 3 | 70959395 | 70959396 | Human | | name |
| 156400271 | CV1897543 | single nucleotide variant | NM_001349338.3(FOXP1):c.90C>T (p.Gly30=) | FOXP1-related disorder [RCV004750821]|not provided [RCV002584799] | likely benign | 3 | 71198292 | 71198292 | Human | 1 | name , alternate_id |
| 11598246 | CV291485 | microsatellite | NM_032682.6(FOXP1):c.*4349_*4353TTTTG[4] | Intellectual Disability with Language Impairment and Autistic Features [RCV000403311] | likely benign | 3 | 70954874 | 70954878 | Human | | name |
| 11635868 | CV291486 | insertion | NM_001349338.3(FOXP1):c.*3414GT[2]GCG[1] | Intellectual Disability with Language Impairment and Autistic Features [RCV000407646] | uncertain significance | 3 | 70955832 | 70955833 | Human | 1 | name |
| 11592546 | CV292837 | single nucleotide variant | NM_032682.6(FOXP1):c.1239C>T (p.Pro413=) | Intellectual Disability with Language Impairment and Autistic Features [RCV000339689] | uncertain significance | 3 | 70977937 | 70977937 | Human | | name |
| 405202646 | CV3052662 | single nucleotide variant | NM_001349338.3(FOXP1):c.78A>G (p.Leu26=) | not provided [RCV003730933] | likely benign | 3 | 71198304 | 71198304 | Human | | name |
| 405215352 | CV3124564 | single nucleotide variant | NM_001349338.3(FOXP1):c.51G>A (p.Gln17=) | not provided [RCV003823926] | likely benign | 3 | 71198331 | 71198331 | Human | | name |
| 405229426 | CV3180446 | single nucleotide variant | NM_001349338.3(FOXP1):c.87C>T (p.Cys29=) | not provided [RCV003864867] | likely benign | 3 | 71198295 | 71198295 | Human | | name |
| 405289129 | CV3218111 | single nucleotide variant | NM_001349338.3(FOXP1):c.90C>G (p.Gly30=) | FOXP1-related disorder [RCV003983513]|not provided [RCV005064924] | likely benign | 3 | 71198292 | 71198292 | Human | 1 | name , alternate_id |
| 597892888 | CV3763391 | single nucleotide variant | NM_001349338.3(FOXP1):c.60G>A (p.Ser20=) | not provided [RCV005110971] | likely benign | 3 | 71198322 | 71198322 | Human | | name |
| 616936472 | CV4016316 | duplication | NM_001349338.3(FOXP1):c.1723-6_1723-3dup | not provided [RCV005415182] | uncertain significance | 3 | 70966058 | 70966059 | Human | | name |
| 13216608 | CV428220 | single nucleotide variant | NM_001349338.3(FOXP1):c.63C>T (p.Gly21=) | not provided [RCV001726200]|not specified [RCV000503884] | likely benign | 3 | 71198319 | 71198319 | Human | | name |
| 15201136 | CV748515 | single nucleotide variant | NM_001349338.3(FOXP1):c.79C>T (p.Leu27=) | FOXP1-related disorder [RCV003950775]|not provided [RCV000913050] | likely benign | 3 | 71198303 | 71198303 | Human | 1 | name , alternate_id |
| 40887728 | CV972931 | single nucleotide variant | NM_001349338.3(FOXP1):c.8A>G (p.Gln3Arg) | Inborn genetic diseases [RCV005340737]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001265466]|not provided [RCV003770379] | likely benign|uncertain significance | 3 | 71198374 | 71198374 | Human | 2 | name |
| 150424961 | CV1183400 | microsatellite | NM_001349338.3(FOXP1):c.1062+128ATTTT[14] | not provided [RCV001557361] | likely benign | 3 | 71000794 | 71000795 | Human | | name |
| 150408949 | CV1190100 | microsatellite | NM_001349338.3(FOXP1):c.1062+128ATTTT[15] | not provided [RCV001565504] | likely benign | 3 | 71000794 | 71000795 | Human | | name |
| 150452100 | CV1205480 | single nucleotide variant | NM_001349338.3(FOXP1):c.288C>T (p.Pro96=) | not provided [RCV001585380] | likely benign | 3 | 71053768 | 71053768 | Human | | name |
| 150480499 | CV1221981 | microsatellite | NM_001349338.3(FOXP1):c.1062+128ATTTT[13] | not provided [RCV001616778] | benign | 3 | 71000794 | 71000795 | Human | | name |
| 150443313 | CV1264579 | microsatellite | NM_001349338.3(FOXP1):c.1062+128ATTTT[11] | not provided [RCV001679563] | benign | 3 | 71000794 | 71000795 | Human | | name |
| 150477180 | CV1279402 | microsatellite | NM_001349338.3(FOXP1):c.1062+128ATTTT[12] | not provided [RCV001714095] | benign | 3 | 71000794 | 71000795 | Human | | name |
| 156223248 | CV1879438 | deletion | NM_001349338.3(FOXP1):c.1428+9_1428+12del | not provided [RCV003059027] | likely benign | 3 | 70977631 | 70977634 | Human | | name |
| 155984752 | CV1907462 | single nucleotide variant | NM_001349338.3(FOXP1):c.174G>A (p.Gln58=) | not provided [RCV003097550] | likely benign | 3 | 71198208 | 71198208 | Human | | name |
| 156219567 | CV1960104 | single nucleotide variant | NM_001349338.3(FOXP1):c.138C>T (p.Ile46=) | not provided [RCV002575472] | likely benign | 3 | 71198244 | 71198244 | Human | | name |
| 155971977 | CV1978480 | single nucleotide variant | NM_001349338.3(FOXP1):c.159C>T (p.His53=) | not provided [RCV002617224] | likely benign | 3 | 71198223 | 71198223 | Human | | name |
| 156349729 | CV2001133 | single nucleotide variant | NM_001349338.3(FOXP1):c.270A>G (p.Gln90=) | not provided [RCV002675505] | likely benign | 3 | 71112548 | 71112548 | Human | | name |
| 156349656 | CV2005567 | single nucleotide variant | NM_001349338.3(FOXP1):c.246A>G (p.Lys82=) | not provided [RCV002650789] | likely benign | 3 | 71112572 | 71112572 | Human | | name |
| 156061315 | CV2044859 | single nucleotide variant | NM_001349338.3(FOXP1):c.141G>A (p.Gly47=) | not provided [RCV002736848] | likely benign | 3 | 71198241 | 71198241 | Human | | name |
| 10403506 | CV207090 | single nucleotide variant | NM_001349338.3(FOXP1):c.13T>C (p.Ser5Pro) | FOXP1-related disorder [RCV003401052]|not provided [RCV000880214]|not specified [RCV000192698] | benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 71198369 | 71198369 | Human | 1 | name , alternate_id |
| 156039212 | CV2089551 | single nucleotide variant | NM_001349338.3(FOXP1):c.108G>A (p.Arg36=) | not provided [RCV002867371] | likely benign | 3 | 71198274 | 71198274 | Human | | name |
| 243053482 | CV2410202 | duplication | NM_001349338.3(FOXP1):c.1653-19_1653-2dup | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003144088]|not provided [RCV003778880] | likely benign|uncertain significance | 3 | 70970806 | 70970807 | Human | 1 | name |
| 329953189 | CV2669901 | single nucleotide variant | NM_001349338.3(FOXP1):c.291G>A (p.Val97=) | not provided [RCV003234525] | uncertain significance | 3 | 71053765 | 71053765 | Human | | name |
| 405119042 | CV2955941 | single nucleotide variant | NM_001349338.3(FOXP1):c.105G>A (p.Gly35=) | not provided [RCV003671265] | likely benign | 3 | 71198277 | 71198277 | Human | | name |
| 11595285 | CV296154 | single nucleotide variant | NM_001349338.3(FOXP1):c.216G>A (p.Gln72=) | FOXP1-related disorder [RCV003963570]|not provided [RCV003050696] | likely benign|uncertain significance | 3 | 71112602 | 71112602 | Human | 1 | name , alternate_id |
| 405148434 | CV2962924 | single nucleotide variant | NM_001349338.3(FOXP1):c.129C>A (p.Ala43=) | not provided [RCV003673825] | likely benign | 3 | 71198253 | 71198253 | Human | | name |
| 405203612 | CV2986145 | single nucleotide variant | NM_001349338.3(FOXP1):c.171G>A (p.Gln57=) | not provided [RCV003678452] | likely benign | 3 | 71198211 | 71198211 | Human | | name |
| 405131664 | CV3021859 | single nucleotide variant | NM_001349338.3(FOXP1):c.26C>A (p.Thr9Lys) | not provided [RCV003701751] | uncertain significance | 3 | 71198356 | 71198356 | Human | | name |
| 405072155 | CV3034324 | single nucleotide variant | NM_001349338.3(FOXP1):c.153C>T (p.Leu51=) | not provided [RCV003698281] | likely benign | 3 | 71198229 | 71198229 | Human | | name |
| 405212968 | CV3127573 | single nucleotide variant | NM_001349338.3(FOXP1):c.162C>T (p.Ala54=) | not provided [RCV003823621] | likely benign | 3 | 71198220 | 71198220 | Human | | name |
| 404985996 | CV3135386 | single nucleotide variant | NM_001349338.3(FOXP1):c.129C>T (p.Ala43=) | not provided [RCV003826681] | likely benign | 3 | 71198253 | 71198253 | Human | | name |
| 405761973 | CV3250708 | single nucleotide variant | NM_001349338.3(FOXP1):c.22G>C (p.Glu8Gln) | Inborn genetic diseases [RCV004394414] | uncertain significance | 3 | 71198360 | 71198360 | Human | 1 | name |
| 597958438 | CV3751858 | duplication | NM_001349338.3(FOXP1):c.1653-44_1653-4dup | not provided [RCV005080987] | uncertain significance | 3 | 70970808 | 70970809 | Human | | name |
| 617150220 | CV4016926 | single nucleotide variant | NM_001349338.3(FOXP1):c.14C>A (p.Ser5Tyr) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005416022] | uncertain significance | 3 | 71198368 | 71198368 | Human | 1 | name |
| 13214894 | CV428219 | single nucleotide variant | NM_001349338.3(FOXP1):c.126G>A (p.Pro42=) | not provided [RCV003766819]|not specified [RCV000501836] | likely benign | 3 | 71198256 | 71198256 | Human | | name |
| 13828418 | CV579000 | single nucleotide variant | NM_001349338.3(FOXP1):c.114C>T (p.Asn38=) | Inborn genetic diseases [RCV002312430]|not provided [RCV003698811] | likely benign | 3 | 71198268 | 71198268 | Human | 1 | name |
| 13830308 | CV579071 | single nucleotide variant | NM_001349338.3(FOXP1):c.123G>A (p.Thr41=) | FOXP1-related disorder [RCV003980354]|Inborn genetic diseases [RCV002317420]|not provided [RCV000966875] | benign|likely benign | 3 | 71198259 | 71198259 | Human | 2 | name , alternate_id |
| 13830146 | CV579085 | single nucleotide variant | NM_001349338.3(FOXP1):c.135C>T (p.Asp45=) | Inborn genetic diseases [RCV002316763] | likely benign | 3 | 71198247 | 71198247 | Human | 1 | name |
| 14395627 | CV611462 | deletion | NM_001349338.3(FOXP1):c.1429-13_1429-3del | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000760189] | likely pathogenic | 3 | 70977045 | 70977055 | Human | 1 | name |
| 126759710 | CV1004964 | single nucleotide variant | NM_001349338.3(FOXP1):c.88G>A (p.Gly30Ser) | not provided [RCV001318134] | uncertain significance | 3 | 71198294 | 71198294 | Human | | name |
| 127261646 | CV1087322 | single nucleotide variant | NM_001349338.3(FOXP1):c.34A>T (p.Asn12Tyr) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001420541] | uncertain significance | 3 | 71198348 | 71198348 | Human | 1 | name |
| 150423893 | CV1183401 | single nucleotide variant | NM_001349338.3(FOXP1):c.888C>T (p.His296=) | not provided [RCV001555934] | likely benign | 3 | 71015635 | 71015635 | Human | | name |
| 150434216 | CV1243895 | single nucleotide variant | NM_001349338.3(FOXP1):c.444A>G (p.Lys148=) | not provided [RCV001665102] | likely benign | 3 | 71052603 | 71052603 | Human | | name |
| 151356072 | CV1328836 | single nucleotide variant | NM_001349338.3(FOXP1):c.450A>G (p.Gln150=) | not provided [RCV002542651]|not specified [RCV001822425] | likely benign | 3 | 71052597 | 71052597 | Human | | name |
| 8659611 | CV134553 | single nucleotide variant | NM_001349338.3(FOXP1):c.98G>C (p.Arg33Pro) | not specified [RCV000117092] | likely benign | 3 | 71198284 | 71198284 | Human | | name |
| 151874407 | CV1408391 | single nucleotide variant | NM_001349338.3(FOXP1):c.98G>A (p.Arg33Gln) | not provided [RCV001906888] | uncertain significance | 3 | 71198284 | 71198284 | Human | | name |
| 152036562 | CV1617717 | duplication | NM_001349338.3(FOXP1):c.1531-18_1531-15dup | not provided [RCV002125429] | likely benign | 3 | 70972690 | 70972691 | Human | | name |
| 152157132 | CV1630476 | single nucleotide variant | NM_001349338.3(FOXP1):c.627C>T (p.Pro209=) | not provided [RCV002122561] | likely benign | 3 | 71046979 | 71046979 | Human | | name |
| 153001969 | CV1682751 | deletion | NM_001349338.3(FOXP1):c.1653-31_1653-26del | not provided [RCV002251830] | likely pathogenic | 3 | 70970831 | 70970836 | Human | | name |
| 153301172 | CV1689018 | single nucleotide variant | NM_001349338.3(FOXP1):c.38G>T (p.Gly13Val) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002266746] | uncertain significance | 3 | 71198344 | 71198344 | Human | 1 | name |
| 153349833 | CV1693127 | single nucleotide variant | NM_001349338.3(FOXP1):c.321C>T (p.Ile107=) | not provided [RCV002276264] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 71053735 | 71053735 | Human | | name |
| 155718095 | CV1772102 | single nucleotide variant | NM_001349338.3(FOXP1):c.76T>A (p.Leu26Ile) | not provided [RCV002296579] | uncertain significance | 3 | 71198306 | 71198306 | Human | | name |
| 9688673 | CV177724 | deletion | NM_001349338.3(FOXP1):c.1146+10_1146+12del | FOXP1-related disorder [RCV003917501]|not provided [RCV000969014]|not specified [RCV000153268] | benign|likely benign | 3 | 70987982 | 70987984 | Human | 1 | name , alternate_id |
| 155695597 | CV1793872 | single nucleotide variant | NM_001349338.3(FOXP1):c.399G>A (p.Gln133=) | Inborn genetic diseases [RCV002357785] | likely benign | 3 | 71053657 | 71053657 | Human | 1 | name |
| 155679968 | CV1807101 | single nucleotide variant | NM_001349338.3(FOXP1):c.585C>T (p.His195=) | Inborn genetic diseases [RCV002353390]|not provided [RCV003096898] | likely benign | 3 | 71047021 | 71047021 | Human | 1 | name |
| 155707404 | CV1817053 | single nucleotide variant | NM_001349338.3(FOXP1):c.825C>T (p.Ala275=) | Inborn genetic diseases [RCV002430177]|not provided [RCV003099888] | likely benign | 3 | 71041372 | 71041372 | Human | 1 | name |
| 155691753 | CV1821464 | single nucleotide variant | NM_001349338.3(FOXP1):c.948G>A (p.Val316=) | Inborn genetic diseases [RCV002374086] | likely benign | 3 | 71015575 | 71015575 | Human | 1 | name |
| 156091590 | CV1919767 | single nucleotide variant | NM_001349338.3(FOXP1):c.37G>A (p.Gly13Ser) | not provided [RCV002591932] | uncertain significance | 3 | 71198345 | 71198345 | Human | | name |
| 156317525 | CV1920775 | single nucleotide variant | NM_001349338.3(FOXP1):c.918T>C (p.Gly306=) | not provided [RCV002600035] | likely benign | 3 | 71015605 | 71015605 | Human | | name |
| 10052860 | CV195435 | single nucleotide variant | NM_001349338.3(FOXP1):c.64G>A (p.Gly22Ser) | not provided [RCV000179547] | uncertain significance | 3 | 71198318 | 71198318 | Human | | name |
| 156174436 | CV1968518 | single nucleotide variant | NM_001349338.3(FOXP1):c.582G>A (p.Gln194=) | not provided [RCV002594871] | likely benign | 3 | 71047024 | 71047024 | Human | | name |
| 156216423 | CV1980325 | single nucleotide variant | NM_001349338.3(FOXP1):c.966A>T (p.Ser322=) | not provided [RCV002626280] | likely benign | 3 | 71015557 | 71015557 | Human | | name |
| 156126581 | CV1993032 | single nucleotide variant | NM_001349338.3(FOXP1):c.29A>G (p.Lys10Arg) | not provided [RCV002623149] | likely benign | 3 | 71198353 | 71198353 | Human | | name |
| 156090976 | CV1994327 | duplication | NM_001349338.3(FOXP1):c.1147-16_1147-12dup | not provided [RCV002639219] | likely benign | 3 | 70978040 | 70978041 | Human | | name |
| 156405437 | CV1994396 | single nucleotide variant | NM_001349338.3(FOXP1):c.384T>C (p.Val128=) | not provided [RCV002658305] | likely benign | 3 | 71053672 | 71053672 | Human | | name |
| 156405442 | CV1994397 | single nucleotide variant | NM_001349338.3(FOXP1):c.366C>T (p.Ser122=) | not provided [RCV002658306] | likely benign | 3 | 71053690 | 71053690 | Human | | name |
| 156352678 | CV1994580 | single nucleotide variant | NM_001349338.3(FOXP1):c.963A>G (p.Gln321=) | not provided [RCV002675704] | likely benign | 3 | 71015560 | 71015560 | Human | | name |
| 156377374 | CV2000456 | single nucleotide variant | NM_001349338.3(FOXP1):c.768G>A (p.Thr256=) | not provided [RCV002653400] | likely benign | 3 | 71041429 | 71041429 | Human | | name |
| 156287602 | CV2012907 | single nucleotide variant | NM_001349338.3(FOXP1):c.879T>C (p.His293=) | not provided [RCV002715524] | likely benign | 3 | 71015644 | 71015644 | Human | | name |
| 156010065 | CV2020305 | single nucleotide variant | NM_001349338.3(FOXP1):c.501G>A (p.Gln167=) | not provided [RCV002734851] | likely benign | 3 | 71052546 | 71052546 | Human | | name |
| 156367062 | CV2020986 | single nucleotide variant | NM_001349338.3(FOXP1):c.516G>A (p.Gln172=) | not provided [RCV002721253] | likely benign | 3 | 71047090 | 71047090 | Human | | name |
| 156373022 | CV2028249 | single nucleotide variant | NM_001349338.3(FOXP1):c.354A>G (p.Gln118=) | not provided [RCV002721679] | likely benign | 3 | 71053702 | 71053702 | Human | | name |
| 156113526 | CV2058369 | single nucleotide variant | NM_001349338.3(FOXP1):c.588C>G (p.Leu196=) | not provided [RCV002825019] | likely benign | 3 | 71047018 | 71047018 | Human | | name |
| 10404202 | CV207089 | single nucleotide variant | NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val) | Congenital cerebellar hypoplasia [RCV001257987]|FOXP1-related disorder [RCV003967497]|Inborn genetic diseases [RCV002311296]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000779637]|Intellectual disability-severe speech delay-mild dys morphism syndrome [RCV001262283]|not provided [RCV001711496]|not specified [RCV000194481] | likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 71198338 | 71198338 | Human | 5 | name , alternate_id |
| 155973312 | CV2079350 | single nucleotide variant | NM_001349338.3(FOXP1):c.651A>G (p.Gln217=) | not provided [RCV002881587] | benign | 3 | 71046955 | 71046955 | Human | | name |
| 156229882 | CV2085189 | single nucleotide variant | NM_001349338.3(FOXP1):c.528C>T (p.Thr176=) | not provided [RCV002876196] | likely benign | 3 | 71047078 | 71047078 | Human | | name |
| 155975368 | CV2088859 | microsatellite | NM_001349338.3(FOXP1):c.1146+18_1146+20del | not provided [RCV002863506] | likely benign | 3 | 70987974 | 70987976 | Human | | name |
| 156050022 | CV2093469 | single nucleotide variant | NM_001349338.3(FOXP1):c.333A>G (p.Gln111=) | not provided [RCV002867754] | likely benign | 3 | 71053723 | 71053723 | Human | | name |
| 155944162 | CV2130097 | single nucleotide variant | NM_001349338.3(FOXP1):c.852C>T (p.His284=) | not provided [RCV002971481] | benign | 3 | 71041345 | 71041345 | Human | | name |
| 156205069 | CV2146702 | single nucleotide variant | NM_001349338.3(FOXP1):c.945A>C (p.Ala315=) | not provided [RCV003006464] | likely benign | 3 | 71015578 | 71015578 | Human | | name |
| 156082071 | CV2167569 | deletion | NM_001349338.3(FOXP1):c.1428+10_1428+13del | not provided [RCV003020383] | likely benign | 3 | 70977630 | 70977633 | Human | | name |
| 243053475 | CV2410199 | single nucleotide variant | NM_001349338.3(FOXP1):c.59C>T (p.Ser20Leu) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003144085] | uncertain significance | 3 | 71198323 | 71198323 | Human | 1 | name |
| 243050561 | CV2415523 | single nucleotide variant | NM_001349338.3(FOXP1):c.94C>A (p.Leu32Ile) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003148111] | uncertain significance | 3 | 71198288 | 71198288 | Human | 1 | name |
| 405020626 | CV2866366 | single nucleotide variant | NM_001349338.3(FOXP1):c.885G>A (p.Glu295=) | not provided [RCV003577544] | likely benign | 3 | 71015638 | 71015638 | Human | | name |
| 405063694 | CV2868560 | single nucleotide variant | NM_001349338.3(FOXP1):c.525T>C (p.Ala175=) | not provided [RCV003548087] | likely benign | 3 | 71047081 | 71047081 | Human | | name |
| 405077209 | CV2869614 | single nucleotide variant | NM_001349338.3(FOXP1):c.915T>C (p.His305=) | not provided [RCV003548889] | likely benign | 3 | 71015608 | 71015608 | Human | | name |
| 405239304 | CV2885785 | single nucleotide variant | NM_001349338.3(FOXP1):c.633G>A (p.Gln211=) | not provided [RCV003556931] | benign | 3 | 71046973 | 71046973 | Human | | name |
| 11652924 | CV291556 | single nucleotide variant | NM_032682.6(FOXP1):c.1129A>G (p.Lys377Glu) | Intellectual Disability with Language Impairment and Autistic Features [RCV000308076] | uncertain significance | 3 | 70988011 | 70988011 | Human | | name |
| 402524419 | CV2940322 | single nucleotide variant | NM_001349338.3(FOXP1):c.795C>T (p.Ser265=) | not provided [RCV003663450] | likely benign | 3 | 71041402 | 71041402 | Human | | name |
| 405082402 | CV2941961 | single nucleotide variant | NM_001349338.3(FOXP1):c.378C>G (p.Leu126=) | not provided [RCV003664712] | likely benign | 3 | 71053678 | 71053678 | Human | | name |
| 405100267 | CV2944145 | single nucleotide variant | NM_001349338.3(FOXP1):c.843C>T (p.Leu281=) | not provided [RCV003665687] | likely benign | 3 | 71041354 | 71041354 | Human | | name |
| 405156234 | CV3037380 | single nucleotide variant | NM_001349338.3(FOXP1):c.606A>G (p.Gln202=) | not provided [RCV003703638] | likely benign | 3 | 71047000 | 71047000 | Human | | name |
| 405197076 | CV3037838 | single nucleotide variant | NM_001349338.3(FOXP1):c.71A>C (p.Asn24Thr) | not provided [RCV003707040] | uncertain significance | 3 | 71198311 | 71198311 | Human | | name |
| 405149421 | CV3063541 | single nucleotide variant | NM_001349338.3(FOXP1):c.834T>C (p.Asn278=) | not provided [RCV003726308] | likely benign | 3 | 71041363 | 71041363 | Human | | name |
| 405043858 | CV3074293 | single nucleotide variant | NM_001349338.3(FOXP1):c.741C>T (p.Asn247=) | not provided [RCV003740120] | likely benign | 3 | 71041456 | 71041456 | Human | | name |
| 405090037 | CV3118455 | single nucleotide variant | NM_001349338.3(FOXP1):c.684G>A (p.Leu228=) | not provided [RCV003811097] | likely benign | 3 | 71041513 | 71041513 | Human | | name |
| 404985847 | CV3121747 | single nucleotide variant | NM_001349338.3(FOXP1):c.960C>T (p.Phe320=) | not provided [RCV003826546] | likely benign | 3 | 71015563 | 71015563 | Human | | name |
| 405183326 | CV3124055 | single nucleotide variant | NM_001349338.3(FOXP1):c.300T>A (p.Ala100=) | not provided [RCV003820251] | likely benign | 3 | 71053756 | 71053756 | Human | | name |
| 405030379 | CV3129973 | microsatellite | NM_001349338.3(FOXP1):c.1147-16_1147-14del | not provided [RCV003830572] | likely benign | 3 | 70978043 | 70978045 | Human | | name |
| 405180093 | CV3148852 | deletion | NM_001349338.3(FOXP1):c.1429-26_1429-12del | not provided [RCV003858630] | uncertain significance | 3 | 70977054 | 70977068 | Human | | name |
| 405229609 | CV3153532 | single nucleotide variant | NM_001349338.3(FOXP1):c.615G>C (p.Leu205=) | not provided [RCV003848597] | likely benign | 3 | 71046991 | 71046991 | Human | | name |
| 405143233 | CV3155685 | single nucleotide variant | NM_001349338.3(FOXP1):c.996G>A (p.Ala332=) | not provided [RCV003855727] | likely benign | 3 | 71001038 | 71001038 | Human | | name |
| 405207264 | CV3162095 | single nucleotide variant | NM_001349338.3(FOXP1):c.786T>C (p.Ser262=) | not provided [RCV003861589] | likely benign | 3 | 71041411 | 71041411 | Human | | name |
| 405246511 | CV3162336 | single nucleotide variant | NM_001349338.3(FOXP1):c.909T>C (p.Tyr303=) | not provided [RCV003868855] | likely benign | 3 | 71015614 | 71015614 | Human | | name |
| 596921100 | CV3534717 | single nucleotide variant | NM_001349338.3(FOXP1):c.56G>C (p.Gly19Ala) | not provided [RCV004784274] | uncertain significance | 3 | 71198326 | 71198326 | Human | | name |
| 597949413 | CV3745958 | single nucleotide variant | NM_001349338.3(FOXP1):c.61G>A (p.Gly21Ser) | not provided [RCV005079142] | uncertain significance | 3 | 71198321 | 71198321 | Human | | name |
| 597876910 | CV3747917 | single nucleotide variant | NM_001349338.3(FOXP1):c.597G>A (p.Leu199=) | not provided [RCV005069409] | benign | 3 | 71047009 | 71047009 | Human | | name |
| 597891125 | CV3749342 | single nucleotide variant | NM_001349338.3(FOXP1):c.639C>T (p.Ala213=) | not provided [RCV005071126] | likely benign | 3 | 71046967 | 71046967 | Human | | name |
| 597957413 | CV3754829 | microsatellite | NM_001349338.3(FOXP1):c.1428+15_1428+16del | not provided [RCV005080679] | likely benign | 3 | 70977627 | 70977628 | Human | | name |
| 597915349 | CV3767343 | single nucleotide variant | NM_001349338.3(FOXP1):c.28A>C (p.Lys10Gln) | not provided [RCV005114334] | uncertain significance | 3 | 71198354 | 71198354 | Human | | name |
| 597892199 | CV3784899 | single nucleotide variant | NM_001349338.3(FOXP1):c.576G>A (p.Gln192=) | not provided [RCV005125678] | likely benign | 3 | 71047030 | 71047030 | Human | | name |
| 597868417 | CV3803329 | single nucleotide variant | NM_001349338.3(FOXP1):c.390C>T (p.Leu130=) | not provided [RCV005147926] | likely benign | 3 | 71053666 | 71053666 | Human | | name |
| 597888214 | CV3804446 | single nucleotide variant | NM_001349338.3(FOXP1):c.765C>G (p.Thr255=) | not provided [RCV005150897] | likely benign | 3 | 71041432 | 71041432 | Human | | name |
| 597933844 | CV3810805 | single nucleotide variant | NM_001349338.3(FOXP1):c.711T>C (p.Ser237=) | not provided [RCV005157514] | likely benign | 3 | 71041486 | 71041486 | Human | | name |
| 597864710 | CV3814193 | single nucleotide variant | NM_001349338.3(FOXP1):c.357A>G (p.Gln119=) | not provided [RCV005147262] | likely benign | 3 | 71053699 | 71053699 | Human | | name |
| 597888314 | CV3859478 | single nucleotide variant | NM_001349338.3(FOXP1):c.97C>T (p.Arg33Trp) | not provided [RCV005200134] | uncertain significance | 3 | 71198285 | 71198285 | Human | | name |
| 597860780 | CV3860097 | single nucleotide variant | NM_001349338.3(FOXP1):c.414T>C (p.Leu138=) | not provided [RCV005195826] | likely benign | 3 | 71053642 | 71053642 | Human | | name |
| 13215547 | CV428214 | single nucleotide variant | NM_001349338.3(FOXP1):c.936C>T (p.Gly312=) | Inborn genetic diseases [RCV002446977]|not provided [RCV001541847]|not specified [RCV000502644] | likely benign | 3 | 71015587 | 71015587 | Human | 1 | name |
| 13213180 | CV428215 | single nucleotide variant | NM_001349338.3(FOXP1):c.855T>G (p.Thr285=) | FOXP1-related disorder [RCV003900044]|not provided [RCV001562630]|not specified [RCV000499710] | benign|likely benign | 3 | 71041342 | 71041342 | Human | 1 | name , alternate_id |
| 13829777 | CV579079 | single nucleotide variant | NM_001349338.3(FOXP1):c.738C>G (p.Gly246=) | Inborn genetic diseases [RCV002318078]|not provided [RCV002533028] | likely benign | 3 | 71041459 | 71041459 | Human | 1 | name |
| 15197004 | CV748514 | single nucleotide variant | NM_001349338.3(FOXP1):c.390C>G (p.Leu130=) | Inborn genetic diseases [RCV002354746]|not provided [RCV000911856] | likely benign | 3 | 71053666 | 71053666 | Human | 1 | name |
| 15179074 | CV764157 | single nucleotide variant | NM_001349338.3(FOXP1):c.699A>G (p.Lys233=) | not provided [RCV000929552] | likely benign | 3 | 71041498 | 71041498 | Human | | name |
| 28881061 | CV859300 | single nucleotide variant | NM_001349338.3(FOXP1):c.31A>G (p.Ser11Gly) | not provided [RCV001092350] | uncertain significance | 3 | 71198351 | 71198351 | Human | | name |
| 150338127 | CV1173807 | single nucleotide variant | NM_001349338.3(FOXP1):c.1722G>A (p.Gln574=) | not provided [RCV001542069] | pathogenic | 3 | 70970736 | 70970736 | Human | | name |
| 150529233 | CV1288787 | single nucleotide variant | NM_001349338.3(FOXP1):c.214C>T (p.Gln72Ter) | not provided [RCV001727255] | pathogenic | 3 | 71112604 | 71112604 | Human | | name |
| 150553032 | CV1298043 | single nucleotide variant | NM_001349338.3(FOXP1):c.155C>T (p.Ala52Val) | not provided [RCV001768656] | uncertain significance | 3 | 71198227 | 71198227 | Human | | name |
| 150549410 | CV1299435 | single nucleotide variant | NM_001349338.3(FOXP1):c.184C>T (p.Leu62Phe) | not provided [RCV001752361] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 71112634 | 71112634 | Human | | name |
| 150550509 | CV1308243 | single nucleotide variant | NM_001349338.3(FOXP1):c.1359G>A (p.Ala453=) | Inborn genetic diseases [RCV002386548]|not provided [RCV001753234] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 70977712 | 70977712 | Human | 1 | name |
| 150557413 | CV1310867 | single nucleotide variant | NM_001349338.3(FOXP1):c.1764T>C (p.Ala588=) | not provided [RCV001776601] | likely benign | 3 | 70966015 | 70966015 | Human | | name |
| 151353396 | CV1326505 | single nucleotide variant | NM_001349338.3(FOXP1):c.110C>G (p.Ser37Cys) | not provided [RCV001816362] | uncertain significance | 3 | 71198272 | 71198272 | Human | | name |
| 151751681 | CV1458972 | single nucleotide variant | NM_001349338.3(FOXP1):c.160G>A (p.Ala54Thr) | Inborn genetic diseases [RCV002389031]|not provided [RCV002043346] | benign|likely benign|uncertain significance | 3 | 71198222 | 71198222 | Human | 1 | name |
| 151811214 | CV1516730 | single nucleotide variant | NM_001349338.3(FOXP1):c.289G>A (p.Val97Met) | Inborn genetic diseases [RCV002608078]|not provided [RCV002012453] | likely benign|uncertain significance | 3 | 71053767 | 71053767 | Human | 1 | name |
| 152979229 | CV1671267 | deletion | NM_001349338.3(FOXP1):c.488del (p.His163fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002226941] | pathogenic | 3 | 71052559 | 71052559 | Human | 1 | name |
| 152979231 | CV1671271 | deletion | NM_001349338.3(FOXP1):c.825del (p.Ser276fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002226945] | pathogenic | 3 | 71041372 | 71041372 | Human | 1 | name |
| 153346767 | CV1691115 | deletion | NM_001349338.3(FOXP1):c.738del (p.Asn247fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002272596] | pathogenic | 3 | 71041459 | 71041459 | Human | 1 | name |
| 153346905 | CV1691772 | single nucleotide variant | NM_001349338.3(FOXP1):c.159C>A (p.His53Gln) | FOXP1-related disorder [RCV003943338]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002273255]|not provided [RCV003738177] | benign|likely benign | 3 | 71198223 | 71198223 | Human | 1 | name , alternate_id |
| 153347003 | CV1694355 | deletion | NM_001349338.3(FOXP1):c.494del (p.Gly165fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002277750] | pathogenic | 3 | 71052553 | 71052553 | Human | 1 | name |
| 155267972 | CV1701490 | deletion | NM_001349338.3(FOXP1):c.427del (p.Leu143fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002283716] | likely pathogenic | 3 | 71052620 | 71052620 | Human | 1 | name |
| 155749711 | CV1774656 | single nucleotide variant | NM_001349338.3(FOXP1):c.130G>A (p.Val44Met) | not provided [RCV002304937] | uncertain significance | 3 | 71198252 | 71198252 | Human | | name |
| 9692945 | CV177723 | single nucleotide variant | NM_001349338.3(FOXP1):c.1383C>T (p.Asn461=) | Inborn genetic diseases [RCV005338089]|not provided [RCV000153266] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 70977688 | 70977688 | Human | 1 | name |
| 155674555 | CV1786319 | single nucleotide variant | NM_001349338.3(FOXP1):c.1146C>T (p.Pro382=) | Inborn genetic diseases [RCV002454894]|not provided [RCV003099573] | likely benign | 3 | 70987994 | 70987994 | Human | 1 | name |
| 155675411 | CV1808296 | single nucleotide variant | NM_001349338.3(FOXP1):c.122C>T (p.Thr41Met) | Inborn genetic diseases [RCV002369208]|not provided [RCV003098356] | likely benign|uncertain significance | 3 | 71198260 | 71198260 | Human | 1 | name |
| 155712613 | CV1824287 | single nucleotide variant | NM_001349338.3(FOXP1):c.1263C>G (p.Pro421=) | Inborn genetic diseases [RCV002447658] | likely benign | 3 | 70977913 | 70977913 | Human | 1 | name |
| 155732739 | CV1826482 | single nucleotide variant | NM_001349338.3(FOXP1):c.135C>A (p.Asp45Glu) | Inborn genetic diseases [RCV002383439] | uncertain significance | 3 | 71198247 | 71198247 | Human | 1 | name |
| 155731729 | CV1833850 | single nucleotide variant | NM_001349338.3(FOXP1):c.161C>T (p.Ala54Val) | Inborn genetic diseases [RCV002401042]|not provided [RCV005097642] | likely benign|uncertain significance | 3 | 71198221 | 71198221 | Human | 1 | name |
| 155714636 | CV1834787 | single nucleotide variant | NM_001349338.3(FOXP1):c.1785G>C (p.Leu595=) | Inborn genetic diseases [RCV002404153]|not provided [RCV003708679] | likely benign | 3 | 70965994 | 70965994 | Human | 1 | name |
| 155721473 | CV1835937 | single nucleotide variant | NM_001349338.3(FOXP1):c.1305C>T (p.Ile435=) | Inborn genetic diseases [RCV002380940]|not provided [RCV003094947] | benign|likely benign | 3 | 70977871 | 70977871 | Human | 1 | name |
| 155721930 | CV1836002 | single nucleotide variant | NM_001349338.3(FOXP1):c.1308C>T (p.Arg436=) | Inborn genetic diseases [RCV002381005]|not provided [RCV003738235] | likely benign | 3 | 70977868 | 70977868 | Human | 1 | name |
| 155681282 | CV1839606 | single nucleotide variant | NM_001349338.3(FOXP1):c.1965C>T (p.Ala655=) | Inborn genetic diseases [RCV002423382] | likely benign | 3 | 70959316 | 70959316 | Human | 1 | name |
| 155800172 | CV1860055 | duplication | NM_001349338.3(FOXP1):c.573dup (p.Gln192fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002466323] | pathogenic | 3 | 71047032 | 71047033 | Human | 1 | name |
| 156385270 | CV1874836 | single nucleotide variant | NM_001349338.3(FOXP1):c.1977A>G (p.Pro659=) | not provided [RCV003050808] | likely benign | 3 | 70959304 | 70959304 | Human | | name |
| 156025680 | CV1896210 | single nucleotide variant | NM_001349338.3(FOXP1):c.1437C>T (p.Leu479=) | not provided [RCV003100414] | likely benign | 3 | 70977034 | 70977034 | Human | | name |
| 156027724 | CV1906831 | single nucleotide variant | NM_001349338.3(FOXP1):c.142G>C (p.Ala48Pro) | not provided [RCV003100504] | benign|conflicting interpretations of pathogenicity | 3 | 71198240 | 71198240 | Human | | name |
| 156418939 | CV1919020 | single nucleotide variant | NM_001349338.3(FOXP1):c.1473C>T (p.Ile491=) | not provided [RCV002612150] | likely benign | 3 | 70976998 | 70976998 | Human | | name |
| 10051002 | CV192787 | single nucleotide variant | NM_001349338.3(FOXP1):c.1902C>T (p.His634=) | not provided [RCV000176235] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 70959379 | 70959379 | Human | | name |
| 155912984 | CV1935392 | single nucleotide variant | NM_001349338.3(FOXP1):c.116G>C (p.Gly39Ala) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002510725] | uncertain significance | 3 | 71198266 | 71198266 | Human | 1 | name |
| 155944443 | CV1935529 | single nucleotide variant | NM_001349338.3(FOXP1):c.157C>T (p.His53Tyr) | not provided [RCV002511276] | uncertain significance | 3 | 71198225 | 71198225 | Human | | name |
| 156408064 | CV1957715 | single nucleotide variant | NM_001349338.3(FOXP1):c.1221A>G (p.Pro407=) | not provided [RCV002586411] | likely benign | 3 | 70977955 | 70977955 | Human | | name |
| 156339503 | CV1961576 | single nucleotide variant | NM_001349338.3(FOXP1):c.1248C>G (p.Pro416=) | not provided [RCV002580430] | likely benign | 3 | 70977928 | 70977928 | Human | | name |
| 156406486 | CV1963648 | single nucleotide variant | NM_001349338.3(FOXP1):c.1761C>T (p.Thr587=) | not provided [RCV002585924] | likely benign | 3 | 70966018 | 70966018 | Human | | name |
| 156419487 | CV1967241 | single nucleotide variant | NM_001349338.3(FOXP1):c.1248C>T (p.Pro416=) | not provided [RCV002612724] | likely benign | 3 | 70977928 | 70977928 | Human | | name |
| 155974079 | CV1974963 | single nucleotide variant | NM_001349338.3(FOXP1):c.136A>G (p.Ile46Val) | not provided [RCV002617312] | uncertain significance | 3 | 71198246 | 71198246 | Human | | name |
| 156135685 | CV1977246 | single nucleotide variant | NM_001349338.3(FOXP1):c.1254C>A (p.Thr418=) | not provided [RCV002593651] | likely benign | 3 | 70977922 | 70977922 | Human | | name |
| 156416241 | CV1984097 | single nucleotide variant | NM_001349338.3(FOXP1):c.1239C>G (p.Pro413=) | FOXP1-related disorder [RCV003898451]|not provided [RCV002610065] | likely benign | 3 | 70977937 | 70977937 | Human | 1 | name , alternate_id |
| 156397320 | CV1985332 | single nucleotide variant | NM_001349338.3(FOXP1):c.1134C>T (p.Ala378=) | not provided [RCV002635631] | likely benign | 3 | 70988006 | 70988006 | Human | | name |
| 156405432 | CV1994395 | single nucleotide variant | NM_001349338.3(FOXP1):c.1002C>T (p.Asp334=) | not provided [RCV002658304] | likely benign | 3 | 71001032 | 71001032 | Human | | name |
| 156354088 | CV1994940 | single nucleotide variant | NM_001349338.3(FOXP1):c.1689C>T (p.His563=) | not provided [RCV002675797] | likely benign | 3 | 70970769 | 70970769 | Human | | name |
| 156333085 | CV2000739 | single nucleotide variant | NM_001349338.3(FOXP1):c.2001C>T (p.Tyr667=) | not provided [RCV002649928] | likely benign | 3 | 70959280 | 70959280 | Human | | name |
| 156300199 | CV2002028 | single nucleotide variant | NM_001349338.3(FOXP1):c.1176C>A (p.Ser392=) | not provided [RCV002671125] | likely benign | 3 | 70978000 | 70978000 | Human | | name |
| 156109382 | CV2002210 | single nucleotide variant | NM_001349338.3(FOXP1):c.151C>T (p.Leu51Phe) | not provided [RCV002639877] | likely benign | 3 | 71198231 | 71198231 | Human | | name |
| 156275677 | CV2004921 | single nucleotide variant | NM_001349338.3(FOXP1):c.1182C>T (p.Ser394=) | not provided [RCV002646677] | likely benign | 3 | 70977994 | 70977994 | Human | | name |
| 156215807 | CV2015228 | single nucleotide variant | NM_001349338.3(FOXP1):c.1314G>C (p.Arg438=) | not provided [RCV002700808] | likely benign | 3 | 70977862 | 70977862 | Human | | name |
| 155970521 | CV2030784 | single nucleotide variant | NM_001349338.3(FOXP1):c.121A>G (p.Thr41Ala) | not provided [RCV002731600] | uncertain significance | 3 | 71198261 | 71198261 | Human | | name |
| 156139659 | CV2040720 | single nucleotide variant | NM_001349338.3(FOXP1):c.1800C>T (p.Ser600=) | not provided [RCV002786476] | likely benign | 3 | 70965979 | 70965979 | Human | | name |
| 156144814 | CV2052687 | single nucleotide variant | NM_001349338.3(FOXP1):c.1596A>G (p.Ala532=) | not provided [RCV002801091] | likely benign | 3 | 70972611 | 70972611 | Human | | name |
| 155935453 | CV2063779 | single nucleotide variant | NM_001349338.3(FOXP1):c.1128C>T (p.Pro376=) | not provided [RCV002839042] | likely benign | 3 | 70988012 | 70988012 | Human | | name |
| 156307381 | CV2067013 | single nucleotide variant | NM_001349338.3(FOXP1):c.205C>A (p.Leu69Ile) | not provided [RCV002833926] | uncertain significance | 3 | 71112613 | 71112613 | Human | | name |
| 10403995 | CV207086 | single nucleotide variant | NM_001349338.3(FOXP1):c.1413A>G (p.Ala471=) | FOXP1-related disorder [RCV003937691]|Inborn genetic diseases [RCV002314819]|not provided [RCV000883914]|not specified [RCV000193923] | benign|likely benign | 3 | 70977658 | 70977658 | Human | 2 | name , alternate_id |
| 10404512 | CV207087 | single nucleotide variant | NM_001349338.3(FOXP1):c.1236C>A (p.Ala412=) | not specified [RCV000195257] | uncertain significance | 3 | 70977940 | 70977940 | Human | | name |
| 155978800 | CV2081784 | single nucleotide variant | NM_001349338.3(FOXP1):c.1816C>T (p.Leu606=) | not provided [RCV002863665] | likely benign | 3 | 70965963 | 70965963 | Human | | name |
| 156030805 | CV2093419 | single nucleotide variant | NM_001349338.3(FOXP1):c.1456C>T (p.Leu486=) | not provided [RCV002885393] | likely benign | 3 | 70977015 | 70977015 | Human | | name |
| 156232946 | CV2093907 | single nucleotide variant | NM_001349338.3(FOXP1):c.1092C>T (p.Ala364=) | not provided [RCV002894623] | likely benign | 3 | 70988048 | 70988048 | Human | | name |
| 156329021 | CV2094653 | single nucleotide variant | NM_001349338.3(FOXP1):c.1236C>T (p.Ala412=) | not provided [RCV002899806] | likely benign | 3 | 70977940 | 70977940 | Human | | name |
| 156221429 | CV2104806 | single nucleotide variant | NM_001349338.3(FOXP1):c.1515C>T (p.Asn505=) | not provided [RCV002932471] | likely benign | 3 | 70976956 | 70976956 | Human | | name |
| 156298167 | CV2119348 | single nucleotide variant | NM_001349338.3(FOXP1):c.125C>T (p.Pro42Leu) | not provided [RCV002962014] | uncertain significance | 3 | 71198257 | 71198257 | Human | | name |
| 156044867 | CV2143644 | single nucleotide variant | NM_001349338.3(FOXP1):c.1821C>T (p.Asn607=) | not provided [RCV002999669] | likely benign | 3 | 70965958 | 70965958 | Human | | name |
| 156312399 | CV2151311 | single nucleotide variant | NM_001349338.3(FOXP1):c.1167C>T (p.Val389=) | not provided [RCV003028659] | likely benign | 3 | 70978009 | 70978009 | Human | | name |
| 156290239 | CV2155148 | single nucleotide variant | NM_001349338.3(FOXP1):c.1701A>G (p.Thr567=) | not provided [RCV003009939] | likely benign | 3 | 70970757 | 70970757 | Human | | name |
| 156105776 | CV2160920 | single nucleotide variant | NM_001349338.3(FOXP1):c.1176C>T (p.Ser392=) | not provided [RCV003038749] | likely benign | 3 | 70978000 | 70978000 | Human | | name |
| 155960491 | CV2183430 | single nucleotide variant | NM_001349338.3(FOXP1):c.104G>C (p.Gly35Ala) | not provided [RCV003032913] | uncertain significance | 3 | 71198278 | 71198278 | Human | | name |
| 156072594 | CV2233382 | single nucleotide variant | NM_001349338.3(FOXP1):c.267A>C (p.Lys89Asn) | Inborn genetic diseases [RCV002737448]|not provided [RCV003698980] | likely benign|uncertain significance | 3 | 71112551 | 71112551 | Human | 1 | name |
| 243053477 | CV2410200 | single nucleotide variant | NM_001349338.3(FOXP1):c.139G>C (p.Gly47Arg) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003144086] | uncertain significance | 3 | 71198243 | 71198243 | Human | 1 | name |
| 11642814 | CV265768 | single nucleotide variant | NM_001349338.3(FOXP1):c.169C>G (p.Gln57Glu) | Inborn genetic diseases [RCV003165720]|not specified [RCV000382389] | likely benign | 3 | 71198213 | 71198213 | Human | 1 | name |
| 329955019 | CV2670955 | single nucleotide variant | NM_001349338.3(FOXP1):c.1635G>A (p.Arg545=) | not provided [RCV003236225] | uncertain significance | 3 | 70972572 | 70972572 | Human | | name |
| 401752137 | CV2710313 | single nucleotide variant | NM_001349338.3(FOXP1):c.113A>G (p.Asn38Ser) | Inborn genetic diseases [RCV003277257] | likely benign | 3 | 71198269 | 71198269 | Human | 1 | name |
| 401829439 | CV2747291 | single nucleotide variant | NM_001349338.3(FOXP1):c.181G>A (p.Ala61Thr) | not provided [RCV003328756] | uncertain significance | 3 | 71112637 | 71112637 | Human | | name |
| 401860802 | CV2794523 | single nucleotide variant | NM_001349338.3(FOXP1):c.191T>G (p.Val64Gly) | not provided [RCV003387691] | uncertain significance | 3 | 71112627 | 71112627 | Human | | name |
| 405169978 | CV2854266 | single nucleotide variant | NM_001349338.3(FOXP1):c.1968C>T (p.Asn656=) | not provided [RCV003542087] | likely benign | 3 | 70959313 | 70959313 | Human | | name |
| 405047453 | CV2856332 | single nucleotide variant | NM_001349338.3(FOXP1):c.1086G>A (p.Leu362=) | not provided [RCV003579553] | likely benign | 3 | 70988054 | 70988054 | Human | | name |
| 405043949 | CV2859633 | single nucleotide variant | NM_001349338.3(FOXP1):c.115G>A (p.Gly39Arg) | not provided [RCV003579265] | uncertain significance | 3 | 71198267 | 71198267 | Human | | name |
| 405176011 | CV2864660 | single nucleotide variant | NM_001349338.3(FOXP1):c.2033G>A (p.Ter678=) | not provided [RCV003542764] | likely benign | 3 | 70959248 | 70959248 | Human | | name |
| 405195095 | CV2868620 | single nucleotide variant | NM_001349338.3(FOXP1):c.1062G>A (p.Gln354=) | not provided [RCV003550733] | uncertain significance | 3 | 71000972 | 71000972 | Human | | name |
| 405190082 | CV2871225 | single nucleotide variant | NM_001349338.3(FOXP1):c.151C>A (p.Leu51Ile) | not provided [RCV003550322] | uncertain significance | 3 | 71198231 | 71198231 | Human | | name |
| 405073701 | CV2873064 | single nucleotide variant | NM_001349338.3(FOXP1):c.175C>G (p.Gln59Glu) | not provided [RCV003548686] | uncertain significance | 3 | 71198207 | 71198207 | Human | | name |
| 405215280 | CV2876059 | single nucleotide variant | NM_001349338.3(FOXP1):c.1224G>A (p.Thr408=) | not provided [RCV003553112] | benign | 3 | 70977952 | 70977952 | Human | | name |
| 405200434 | CV2877175 | single nucleotide variant | NM_001349338.3(FOXP1):c.1116G>A (p.Lys372=) | not provided [RCV003551332] | likely benign | 3 | 70988024 | 70988024 | Human | | name |
| 405141590 | CV2900813 | single nucleotide variant | NM_001349338.3(FOXP1):c.1518G>A (p.Ala506=) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005036899]|not provided [RCV003560810] | likely benign|uncertain significance | 3 | 70976953 | 70976953 | Human | 1 | name |
| 405182793 | CV2909591 | single nucleotide variant | NM_001349338.3(FOXP1):c.2022G>A (p.Glu674=) | not provided [RCV003564079] | likely benign | 3 | 70959259 | 70959259 | Human | | name |
| 11597266 | CV291553 | single nucleotide variant | NM_001349338.3(FOXP1):c.1233C>T (p.Thr411=) | FOXP1-related disorder [RCV003932405]|Inborn genetic diseases [RCV002374588]|not provided [RCV000923739]|not specified [RCV001821050] | benign|likely benign | 3 | 70977943 | 70977943 | Human | 2 | name , alternate_id |
| 405224416 | CV2919132 | single nucleotide variant | NM_001349338.3(FOXP1):c.1293G>C (p.Thr431=) | not provided [RCV003568797] | likely benign | 3 | 70977883 | 70977883 | Human | | name |
| 405112260 | CV2938844 | single nucleotide variant | NM_001349338.3(FOXP1):c.1599A>G (p.Val533=) | not provided [RCV003666409] | likely benign | 3 | 70972608 | 70972608 | Human | | name |
| 405073627 | CV2941258 | single nucleotide variant | NM_001349338.3(FOXP1):c.1740T>C (p.Asn580=) | not provided [RCV003664132] | likely benign | 3 | 70966039 | 70966039 | Human | | name |
| 11661697 | CV296150 | single nucleotide variant | NM_001349338.3(FOXP1):c.1641A>G (p.Gln547=) | not provided [RCV001569544] | likely benign|uncertain significance | 3 | 70972566 | 70972566 | Human | | name |
| 11593314 | CV296187 | single nucleotide variant | NM_001349338.3(FOXP1):c.1155G>A (p.Leu385=) | not provided [RCV002696256] | likely benign|uncertain significance | 3 | 70978021 | 70978021 | Human | | name |
| 405213121 | CV2971235 | single nucleotide variant | NM_001349338.3(FOXP1):c.1386A>T (p.Ala462=) | not provided [RCV003679669] | likely benign | 3 | 70977685 | 70977685 | Human | | name |
| 405216904 | CV2972188 | single nucleotide variant | NM_001349338.3(FOXP1):c.1896T>A (p.Pro632=) | not provided [RCV003680145] | likely benign | 3 | 70959385 | 70959385 | Human | | name |
| 402494899 | CV2978557 | single nucleotide variant | NM_001349338.3(FOXP1):c.258G>T (p.Arg86Ser) | not provided [RCV003714152] | uncertain significance | 3 | 71112560 | 71112560 | Human | | name |
| 405011093 | CV2987260 | single nucleotide variant | NM_001349338.3(FOXP1):c.1989T>C (p.His663=) | not provided [RCV003693922] | likely benign | 3 | 70959292 | 70959292 | Human | | name |
| 405192325 | CV2989005 | single nucleotide variant | NM_001349338.3(FOXP1):c.1038G>A (p.Gln346=) | not provided [RCV003706581] | likely benign | 3 | 71000996 | 71000996 | Human | | name |
| 402480592 | CV2991148 | single nucleotide variant | NM_001349338.3(FOXP1):c.1521C>T (p.Ala507=) | not provided [RCV003686563] | likely benign | 3 | 70976950 | 70976950 | Human | | name |
| 404978396 | CV3012398 | single nucleotide variant | NM_001349338.3(FOXP1):c.2031G>A (p.Glu677=) | not provided [RCV003690804] | likely benign | 3 | 70959250 | 70959250 | Human | | name |
| 405003451 | CV3016346 | single nucleotide variant | NM_001349338.3(FOXP1):c.1590A>G (p.Lys530=) | not provided [RCV003693393] | likely benign | 3 | 70972617 | 70972617 | Human | | name |
| 405202563 | CV3036304 | single nucleotide variant | NM_001349338.3(FOXP1):c.1158A>T (p.Val386=) | not provided [RCV003707595] | likely benign | 3 | 70978018 | 70978018 | Human | | name |
| 405236273 | CV3038066 | single nucleotide variant | NM_001349338.3(FOXP1):c.272C>T (p.Pro91Leu) | not provided [RCV003712411] | uncertain significance | 3 | 71112546 | 71112546 | Human | | name |
| 405094881 | CV3045535 | single nucleotide variant | NM_001349338.3(FOXP1):c.1311G>A (p.Arg437=) | not provided [RCV003717962] | likely benign | 3 | 70977865 | 70977865 | Human | | name |
| 405211109 | CV3062344 | single nucleotide variant | NM_001349338.3(FOXP1):c.1686C>T (p.Ser562=) | not provided [RCV003731922] | likely benign | 3 | 70970772 | 70970772 | Human | | name |
| 405190723 | CV3069877 | single nucleotide variant | NM_001349338.3(FOXP1):c.1338C>T (p.Pro446=) | not provided [RCV003729694] | likely benign | 3 | 70977838 | 70977838 | Human | | name |
| 405134564 | CV3115319 | single nucleotide variant | NM_001349338.3(FOXP1):c.1335G>A (p.Val445=) | not provided [RCV003816164] | likely benign | 3 | 70977841 | 70977841 | Human | | name |
| 405115043 | CV3134155 | single nucleotide variant | NM_001349338.3(FOXP1):c.1524G>A (p.Thr508=) | not provided [RCV003836757] | likely benign | 3 | 70976947 | 70976947 | Human | | name |
| 405116349 | CV3134299 | single nucleotide variant | NM_001349338.3(FOXP1):c.1398A>G (p.Pro466=) | not provided [RCV003836901] | likely benign | 3 | 70977673 | 70977673 | Human | | name |
| 405014185 | CV3138863 | single nucleotide variant | NM_001349338.3(FOXP1):c.1332C>T (p.Asn444=) | not provided [RCV003829200] | benign | 3 | 70977844 | 70977844 | Human | | name |
| 405177782 | CV3147020 | single nucleotide variant | NM_001349338.3(FOXP1):c.1158A>G (p.Val386=) | not provided [RCV003842116] | likely benign | 3 | 70978018 | 70978018 | Human | | name |
| 405188944 | CV3149513 | single nucleotide variant | NM_001349338.3(FOXP1):c.1152T>C (p.Asn384=) | not provided [RCV003843239] | likely benign | 3 | 70978024 | 70978024 | Human | | name |
| 405173805 | CV3151921 | single nucleotide variant | NM_001349338.3(FOXP1):c.1104C>T (p.His368=) | not provided [RCV003858072] | likely benign | 3 | 70988036 | 70988036 | Human | | name |
| 405210820 | CV3158995 | single nucleotide variant | NM_001349338.3(FOXP1):c.139G>A (p.Gly47Arg) | not provided [RCV003862116] | uncertain significance | 3 | 71198243 | 71198243 | Human | | name |
| 405215835 | CV3160760 | single nucleotide variant | NM_001349338.3(FOXP1):c.172C>G (p.Gln58Glu) | not provided [RCV003862822] | uncertain significance | 3 | 71198210 | 71198210 | Human | | name |
| 405210167 | CV3162639 | single nucleotide variant | NM_001349338.3(FOXP1):c.1293G>A (p.Thr431=) | not provided [RCV003861938] | likely benign | 3 | 70977883 | 70977883 | Human | | name |
| 402485684 | CV3171374 | single nucleotide variant | NM_001349338.3(FOXP1):c.1584C>T (p.Asn528=) | not provided [RCV003876401] | likely benign | 3 | 70972623 | 70972623 | Human | | name |
| 402464650 | CV3177090 | single nucleotide variant | NM_001349338.3(FOXP1):c.1188G>A (p.Ser396=) | not provided [RCV003872721] | likely benign | 3 | 70977988 | 70977988 | Human | | name |
| 405262360 | CV3189254 | single nucleotide variant | NM_001349338.3(FOXP1):c.1887C>T (p.Ala629=) | FOXP1-related disorder [RCV003896489] | likely benign | 3 | 70965892 | 70965892 | Human | | name , trait , alternate_id |
| 405286674 | CV3205446 | single nucleotide variant | NM_001349338.3(FOXP1):c.1488A>T (p.Thr496=) | FOXP1-related disorder [RCV003959616] | likely benign | 3 | 70976983 | 70976983 | Human | | name , trait , alternate_id |
| 405289702 | CV3218345 | single nucleotide variant | NM_001349338.3(FOXP1):c.1407A>G (p.Thr469=) | FOXP1-related disorder [RCV003983747]|not provided [RCV005064929] | likely benign | 3 | 70977664 | 70977664 | Human | 1 | name , alternate_id |
| 405761959 | CV3250706 | single nucleotide variant | NM_001349338.3(FOXP1):c.227A>G (p.Gln76Arg) | Inborn genetic diseases [RCV004394412] | uncertain significance | 3 | 71112591 | 71112591 | Human | 1 | name |
| 407494280 | CV3442785 | single nucleotide variant | NM_001349338.3(FOXP1):c.112A>G (p.Asn38Asp) | Inborn genetic diseases [RCV004621277]|not provided [RCV005102201] | uncertain significance | 3 | 71198270 | 71198270 | Human | 1 | name |
| 408393421 | CV3528465 | single nucleotide variant | NM_001349338.3(FOXP1):c.221A>C (p.Gln74Pro) | not provided [RCV004776233] | uncertain significance | 3 | 71112597 | 71112597 | Human | | name |
| 596921241 | CV3534859 | single nucleotide variant | NM_001349338.3(FOXP1):c.201G>C (p.Gln67His) | not provided [RCV004784417] | uncertain significance | 3 | 71112617 | 71112617 | Human | | name |
| 597903728 | CV3738212 | single nucleotide variant | NM_001349338.3(FOXP1):c.1239C>A (p.Pro413=) | not provided [RCV005072634] | likely benign | 3 | 70977937 | 70977937 | Human | | name |
| 597899523 | CV3740948 | single nucleotide variant | NM_001349338.3(FOXP1):c.1507C>A (p.Arg503=) | not provided [RCV005072111] | likely benign | 3 | 70976964 | 70976964 | Human | | name |
| 597830885 | CV3743618 | single nucleotide variant | NM_001349338.3(FOXP1):c.1182C>G (p.Ser394=) | not provided [RCV005062435] | likely benign | 3 | 70977994 | 70977994 | Human | | name |
| 597953018 | CV3756966 | single nucleotide variant | NM_001349338.3(FOXP1):c.2019C>T (p.Asn673=) | not provided [RCV005079827] | likely benign | 3 | 70959262 | 70959262 | Human | | name |
| 597874243 | CV3766112 | single nucleotide variant | NM_001349338.3(FOXP1):c.1807C>A (p.Arg603=) | not provided [RCV005108244] | likely benign | 3 | 70965972 | 70965972 | Human | | name |
| 597943840 | CV3782694 | single nucleotide variant | NM_001349338.3(FOXP1):c.1965C>A (p.Ala655=) | not provided [RCV005134234] | likely benign | 3 | 70959316 | 70959316 | Human | | name |
| 597891479 | CV3785001 | single nucleotide variant | NM_001349338.3(FOXP1):c.1872A>G (p.Arg624=) | not provided [RCV005125780] | likely benign | 3 | 70965907 | 70965907 | Human | | name |
| 597947631 | CV3800751 | single nucleotide variant | NM_001349338.3(FOXP1):c.1545T>C (p.His515=) | not provided [RCV005135151] | likely benign | 3 | 70972662 | 70972662 | Human | | name |
| 597909923 | CV3806520 | single nucleotide variant | NM_001349338.3(FOXP1):c.1734T>C (p.Ala578=) | not provided [RCV005154087] | likely benign | 3 | 70966045 | 70966045 | Human | | name |
| 597945055 | CV3812595 | single nucleotide variant | NM_001349338.3(FOXP1):c.1896T>C (p.Pro632=) | not provided [RCV005159805] | likely benign | 3 | 70959385 | 70959385 | Human | | name |
| 597875668 | CV3816827 | single nucleotide variant | NM_001349338.3(FOXP1):c.1503C>T (p.Tyr501=) | not provided [RCV005148880] | likely benign | 3 | 70976968 | 70976968 | Human | | name |
| 597940658 | CV3819096 | single nucleotide variant | NM_001349338.3(FOXP1):c.1752A>G (p.Leu584=) | not provided [RCV005158907] | likely benign | 3 | 70966027 | 70966027 | Human | | name |
| 597968336 | CV3820901 | single nucleotide variant | NM_001349338.3(FOXP1):c.1206C>T (p.Ser402=) | not provided [RCV005165742] | likely benign | 3 | 70977970 | 70977970 | Human | | name |
| 597840727 | CV3825401 | single nucleotide variant | NM_001349338.3(FOXP1):c.1680G>A (p.Gln560=) | not provided [RCV005172084] | likely benign | 3 | 70970778 | 70970778 | Human | | name |
| 597843801 | CV3827355 | single nucleotide variant | NM_001349338.3(FOXP1):c.1506C>T (p.Phe502=) | not provided [RCV005172626] | likely benign | 3 | 70976965 | 70976965 | Human | | name |
| 597845757 | CV3827871 | single nucleotide variant | NM_001349338.3(FOXP1):c.1410T>C (p.Tyr470=) | not provided [RCV005172945] | likely benign | 3 | 70977661 | 70977661 | Human | | name |
| 597976376 | CV3829624 | single nucleotide variant | NM_001349338.3(FOXP1):c.149A>G (p.Asp50Gly) | not provided [RCV005169891] | uncertain significance | 3 | 71198233 | 71198233 | Human | | name |
| 597946862 | CV3841756 | single nucleotide variant | NM_001349338.3(FOXP1):c.1317C>T (p.Tyr439=) | not provided [RCV005189190] | likely benign | 3 | 70977859 | 70977859 | Human | | name |
| 597937275 | CV3862674 | single nucleotide variant | NM_001349338.3(FOXP1):c.1761C>G (p.Thr587=) | not provided [RCV005207946] | likely benign | 3 | 70966018 | 70966018 | Human | | name |
| 13214737 | CV428216 | deletion | NM_001349338.3(FOXP1):c.606del (p.Gly203fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000501630] | pathogenic | 3 | 71047000 | 71047000 | Human | 1 | name |
| 13445816 | CV438249 | single nucleotide variant | NM_001349338.3(FOXP1):c.1344G>A (p.Ser448=) | not provided [RCV000512894] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 70977832 | 70977832 | Human | | name |
| 13828441 | CV579061 | single nucleotide variant | NM_001349338.3(FOXP1):c.1848C>T (p.Asn616=) | Inborn genetic diseases [RCV002312444]|not provided [RCV002532993] | likely benign|uncertain significance | 3 | 70965931 | 70965931 | Human | 1 | name |
| 13830013 | CV579067 | single nucleotide variant | NM_001349338.3(FOXP1):c.154G>A (p.Ala52Thr) | Inborn genetic diseases [RCV002318803]|not provided [RCV002534939] | benign|likely benign | 3 | 71198228 | 71198228 | Human | 1 | name |
| 13829589 | CV579074 | single nucleotide variant | NM_001349338.3(FOXP1):c.107G>A (p.Arg36Gln) | Inborn genetic diseases [RCV002315447]|not provided [RCV002067041]|not specified [RCV001816771] | benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 71198275 | 71198275 | Human | 1 | name |
| 15193981 | CV764156 | single nucleotide variant | NM_001349338.3(FOXP1):c.1149G>A (p.Leu383=) | FOXP1-related disorder [RCV003895676]|not provided [RCV000933512] | likely benign | 3 | 70978027 | 70978027 | Human | 1 | name , alternate_id |
| 28881052 | CV859299 | single nucleotide variant | NM_001349338.3(FOXP1):c.1803A>T (p.Ala601=) | not provided [RCV001092349] | likely benign | 3 | 70965976 | 70965976 | Human | | name |
| 34892168 | CV915025 | duplication | NM_001349338.3(FOXP1):c.659dup (p.Gln221fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001175604] | pathogenic|likely pathogenic | 3 | 71046946 | 71046947 | Human | 1 | name |
| 38458797 | CV918244 | single nucleotide variant | NM_001349338.3(FOXP1):c.274G>C (p.Ala92Pro) | not specified [RCV001195377] | uncertain significance | 3 | 71112544 | 71112544 | Human | | name |
| 38459754 | CV918858 | single nucleotide variant | NM_001349338.3(FOXP1):c.119A>T (p.Glu40Val) | Inborn genetic diseases [RCV002348643]|Intellectual disability [RCV001251757]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001196089]|not provided [RCV002559246] | likely benign|uncertain significance | 3 | 71198263 | 71198263 | Human | 4 | name |
| 38597697 | CV964229 | deletion | NM_001349338.3(FOXP1):c.945del (p.Val316fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001253012] | pathogenic | 3 | 71015578 | 71015578 | Human | 1 | name |
| 40814519 | CV969347 | single nucleotide variant | NM_001349338.3(FOXP1):c.1350A>T (p.Ala450=) | Intellectual disability [RCV001260763] | pathogenic | 3 | 70977721 | 70977721 | Human | 2 | name |
| 40887730 | CV972930 | single nucleotide variant | NM_001349338.3(FOXP1):c.179A>G (p.Gln60Arg) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001265467]|not provided [RCV002537677]|not specified [RCV002246260] | likely pathogenic|uncertain significance | 3 | 71198203 | 71198203 | Human | 1 | name |
| 40904136 | CV976254 | duplication | NM_001349338.3(FOXP1):c.447dup (p.Gln150fs) | not provided [RCV001269971] | pathogenic | 3 | 71052599 | 71052600 | Human | | name |
| 127292751 | CV1162098 | duplication | NM_001349338.3(FOXP1):c.1534dup (p.Ala512fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001527071] | likely pathogenic | 3 | 70972672 | 70972673 | Human | 1 | name |
| 150494550 | CV1204851 | single nucleotide variant | NM_001349338.3(FOXP1):c.316G>A (p.Val106Ile) | not provided [RCV001593343] | likely benign|conflicting interpretations of pathogenicity | 3 | 71053740 | 71053740 | Human | | name |
| 150529232 | CV1288786 | single nucleotide variant | NM_001349338.3(FOXP1):c.716A>G (p.His239Arg) | not provided [RCV001727254] | uncertain significance | 3 | 71041481 | 71041481 | Human | | name |
| 150550555 | CV1298989 | single nucleotide variant | NM_001349338.3(FOXP1):c.963A>T (p.Gln321His) | not provided [RCV001765783] | uncertain significance | 3 | 71015560 | 71015560 | Human | | name |
| 150549854 | CV1299913 | single nucleotide variant | NM_001349338.3(FOXP1):c.607G>A (p.Gly203Ser) | not provided [RCV001765383] | uncertain significance | 3 | 71046999 | 71046999 | Human | | name |
| 151661311 | CV1329833 | single nucleotide variant | NM_001349338.3(FOXP1):c.484C>T (p.Gln162Ter) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001823033] | likely pathogenic | 3 | 71052563 | 71052563 | Human | 1 | name |
| 8659613 | CV134555 | single nucleotide variant | NM_001349338.3(FOXP1):c.643C>G (p.Pro215Ala) | FOXP1-related disorder [RCV003975021]|Inborn genetic diseases [RCV002313882]|not provided [RCV000899617]|not specified [RCV000117094] | benign|likely benign | 3 | 71046963 | 71046963 | Human | 2 | name , alternate_id |
| 151713073 | CV1428640 | deletion | NM_001349338.3(FOXP1):c.1264del (p.Ser422fs) | not provided [RCV002002367] | pathogenic | 3 | 70977912 | 70977912 | Human | | name |
| 151764867 | CV1499471 | single nucleotide variant | NM_001349338.3(FOXP1):c.445A>G (p.Lys149Glu) | not provided [RCV001873873] | uncertain significance | 3 | 71052602 | 71052602 | Human | | name |
| 152028764 | CV1642930 | single nucleotide variant | NM_001349338.3(FOXP1):c.872T>C (p.Leu291Ser) | not provided [RCV002185946] | benign | 3 | 71015651 | 71015651 | Human | | name |
| 152979953 | CV1675821 | single nucleotide variant | NM_001349338.3(FOXP1):c.520G>A (p.Val174Met) | not provided [RCV002244412] | uncertain significance | 3 | 71047086 | 71047086 | Human | | name |
| 152982994 | CV1677840 | deletion | NM_001349338.3(FOXP1):c.2018del (p.Asn673fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002249994] | pathogenic | 3 | 70959263 | 70959263 | Human | 1 | name |
| 153346820 | CV1691241 | single nucleotide variant | NM_001349338.3(FOXP1):c.869G>C (p.Ser290Thr) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002272722] | likely pathogenic | 3 | 71041328 | 71041328 | Human | 1 | name |
| 153346890 | CV1694257 | duplication | NM_001349338.3(FOXP1):c.1000dup (p.Asp334fs) | Neurodevelopmental disorder [RCV002277673] | likely pathogenic | 3 | 71001033 | 71001034 | Human | 1 | name |
| 155265248 | CV1704707 | single nucleotide variant | NM_001349338.3(FOXP1):c.773G>A (p.Cys258Tyr) | not provided [RCV002284923] | uncertain significance | 3 | 71041424 | 71041424 | Human | | name |
| 155644277 | CV1708539 | single nucleotide variant | NM_001349338.3(FOXP1):c.319A>T (p.Ile107Phe) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002291082] | uncertain significance | 3 | 71053737 | 71053737 | Human | 1 | name |
| 155641940 | CV1709994 | single nucleotide variant | NM_001349338.3(FOXP1):c.508G>T (p.Glu170Ter) | not provided [RCV002293094] | pathogenic | 3 | 71052539 | 71052539 | Human | | name |
| 155645053 | CV1710547 | single nucleotide variant | NM_001349338.3(FOXP1):c.728A>G (p.Glu243Gly) | not provided [RCV002293843] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 71041469 | 71041469 | Human | | name |
| 155748781 | CV1772337 | single nucleotide variant | NM_001349338.3(FOXP1):c.927G>C (p.Lys309Asn) | not provided [RCV002303912] | likely benign|uncertain significance | 3 | 71015596 | 71015596 | Human | | name |
| 155690479 | CV1775154 | single nucleotide variant | NM_001349338.3(FOXP1):c.853A>T (p.Thr285Ser) | not provided [RCV002294861] | uncertain significance | 3 | 71041344 | 71041344 | Human | | name |
| 155705004 | CV1824013 | single nucleotide variant | NM_001349338.3(FOXP1):c.840G>C (p.Gln280His) | Inborn genetic diseases [RCV002445865]|not provided [RCV003099935] | uncertain significance | 3 | 71041357 | 71041357 | Human | 1 | name |
| 155800175 | CV1860056 | single nucleotide variant | NM_001349338.3(FOXP1):c.580C>T (p.Gln194Ter) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002466324] | pathogenic | 3 | 71047026 | 71047026 | Human | 1 | name |
| 155799648 | CV1862575 | deletion | NM_001349338.3(FOXP1):c.1241del (p.Leu414fs) | FOXP1-related disorder [RCV003943412]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002471982]|not provided [RCV002571475] | pathogenic | 3 | 70977935 | 70977935 | Human | 1 | name , alternate_id |
| 155797240 | CV1863235 | single nucleotide variant | NM_001349338.3(FOXP1):c.381G>C (p.Gln127His) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002470509] | uncertain significance | 3 | 71053675 | 71053675 | Human | 1 | name |
| 156356864 | CV1891134 | single nucleotide variant | NM_001349338.3(FOXP1):c.794C>G (p.Ser265Cys) | Inborn genetic diseases [RCV003091419]|not provided [RCV003091418] | likely benign|uncertain significance | 3 | 71041403 | 71041403 | Human | 1 | name |
| 156102989 | CV1917018 | single nucleotide variant | NM_001349338.3(FOXP1):c.427C>T (p.Leu143Phe) | not provided [RCV002592345] | uncertain significance | 3 | 71052620 | 71052620 | Human | | name |
| 10047939 | CV191730 | duplication | NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs) | Developmental disorder [RCV003126566]|Inborn genetic diseases [RCV002516654]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001548766]|not provided [RCV000352326] | pathogenic | 3 | 70977935 | 70977936 | Human | 3 | name |
| 156053357 | CV1935006 | single nucleotide variant | NM_001349338.3(FOXP1):c.527C>A (p.Thr176Asn) | not provided [RCV003698966]|not specified [RCV002510292] | uncertain significance | 3 | 71047079 | 71047079 | Human | | name |
| 156446277 | CV1951313 | single nucleotide variant | NM_001349338.3(FOXP1):c.767C>T (p.Thr256Met) | not provided [RCV003117248] | benign | 3 | 71041430 | 71041430 | Human | | name |
| 156154965 | CV1957608 | single nucleotide variant | NM_001349338.3(FOXP1):c.611T>A (p.Leu204His) | not provided [RCV002573024] | likely benign | 3 | 71046995 | 71046995 | Human | | name |
| 156393856 | CV1962551 | single nucleotide variant | NM_001349338.3(FOXP1):c.637G>T (p.Ala213Ser) | not provided [RCV002584152] | benign|uncertain significance | 3 | 71046969 | 71046969 | Human | | name |
| 156086555 | CV1989424 | single nucleotide variant | NM_001349338.3(FOXP1):c.856C>T (p.Pro286Ser) | not provided [RCV002639074] | benign | 3 | 71041341 | 71041341 | Human | | name |
| 156234547 | CV2016104 | single nucleotide variant | NM_001349338.3(FOXP1):c.730A>C (p.Thr244Pro) | not provided [RCV002701495] | uncertain significance | 3 | 71041467 | 71041467 | Human | | name |
| 156116187 | CV2035554 | single nucleotide variant | NM_001349338.3(FOXP1):c.619A>G (p.Ile207Val) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003146624]|not provided [RCV002785602] | uncertain significance | 3 | 71046987 | 71046987 | Human | 1 | name |
| 156036201 | CV2052538 | single nucleotide variant | NM_001349338.3(FOXP1):c.909T>G (p.Tyr303Ter) | not provided [RCV002796259] | pathogenic | 3 | 71015614 | 71015614 | Human | | name |
| 155913154 | CV2065888 | single nucleotide variant | NM_001349338.3(FOXP1):c.836G>A (p.Gly279Glu) | not provided [RCV002837860] | uncertain significance | 3 | 71041361 | 71041361 | Human | | name |
| 156020798 | CV2082636 | single nucleotide variant | NM_001349338.3(FOXP1):c.813G>A (p.Met271Ile) | not provided [RCV002884947] | likely benign | 3 | 71041384 | 71041384 | Human | | name |
| 156122985 | CV2088567 | single nucleotide variant | NM_001349338.3(FOXP1):c.490G>T (p.Ala164Ser) | not provided [RCV002889637] | likely benign | 3 | 71052557 | 71052557 | Human | | name |
| 156167246 | CV2102278 | single nucleotide variant | NM_001349338.3(FOXP1):c.511C>T (p.Gln171Ter) | not provided [RCV002891213] | pathogenic | 3 | 71047095 | 71047095 | Human | | name |
| 155906903 | CV2148206 | single nucleotide variant | NM_001349338.3(FOXP1):c.710G>A (p.Ser237Asn) | not provided [RCV003011977] | uncertain significance | 3 | 71041487 | 71041487 | Human | | name |
| 155976233 | CV2149114 | single nucleotide variant | NM_001349338.3(FOXP1):c.424C>G (p.Gln142Glu) | not provided [RCV003016167] | uncertain significance | 3 | 71052623 | 71052623 | Human | | name |
| 156181056 | CV2155506 | single nucleotide variant | NM_001349338.3(FOXP1):c.847G>A (p.Val283Ile) | not provided [RCV003005704] | uncertain significance | 3 | 71041350 | 71041350 | Human | | name |
| 156254056 | CV2162855 | single nucleotide variant | NM_001349338.3(FOXP1):c.931C>T (p.Pro311Ser) | not provided [RCV003026440] | uncertain significance | 3 | 71015592 | 71015592 | Human | | name |
| 156233961 | CV2180533 | single nucleotide variant | NM_001349338.3(FOXP1):c.628G>A (p.Gly210Arg) | not provided [RCV003043195] | likely benign | 3 | 71046978 | 71046978 | Human | | name |
| 156264310 | CV2189095 | single nucleotide variant | NM_001349338.3(FOXP1):c.772T>C (p.Cys258Arg) | not provided [RCV003044229] | likely benign|uncertain significance | 3 | 71041425 | 71041425 | Human | | name |
| 156366212 | CV2192328 | single nucleotide variant | NM_001349338.3(FOXP1):c.761T>A (p.Leu254Gln) | not provided [RCV003065967] | uncertain significance | 3 | 71041436 | 71041436 | Human | | name |
| 156271970 | CV2237317 | single nucleotide variant | NM_001349338.3(FOXP1):c.983A>G (p.Asn328Ser) | Inborn genetic diseases [RCV002792532] | uncertain significance | 3 | 71001051 | 71001051 | Human | 1 | name |
| 156440106 | CV2401791 | single nucleotide variant | NM_001349338.3(FOXP1):c.821A>G (p.His274Arg) | not provided [RCV003110079] | uncertain significance | 3 | 71041376 | 71041376 | Human | | name |
| 243053483 | CV2410203 | single nucleotide variant | NM_001349338.3(FOXP1):c.952G>A (p.Glu318Lys) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003144089] | uncertain significance | 3 | 71015571 | 71015571 | Human | 1 | name |
| 243052793 | CV2418013 | duplication | NM_001349338.3(FOXP1):c.1552dup (p.Ser518fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003153078] | likely pathogenic | 3 | 70972654 | 70972655 | Human | 1 | name |
| 329394181 | CV2450130 | single nucleotide variant | NM_001349338.3(FOXP1):c.299C>T (p.Ala100Val) | Inborn genetic diseases [RCV003193548] | uncertain significance | 3 | 71053757 | 71053757 | Human | 1 | name |
| 329395228 | CV2473062 | single nucleotide variant | NM_001349338.3(FOXP1):c.564G>A (p.Met188Ile) | not provided [RCV003219046] | uncertain significance | 3 | 71047042 | 71047042 | Human | | name |
| 329351089 | CV2477918 | single nucleotide variant | NM_001349338.3(FOXP1):c.320T>C (p.Ile107Thr) | not provided [RCV003224031] | uncertain significance | 3 | 71053736 | 71053736 | Human | | name |
| 401797773 | CV2742328 | single nucleotide variant | NM_001349338.3(FOXP1):c.930G>A (p.Trp310Ter) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003324621] | pathogenic | 3 | 71015593 | 71015593 | Human | 1 | name |
| 401830537 | CV2748221 | single nucleotide variant | NM_001349338.3(FOXP1):c.625C>T (p.Pro209Ser) | not provided [RCV003329828] | uncertain significance | 3 | 71046981 | 71046981 | Human | | name |
| 401855639 | CV2753057 | single nucleotide variant | NM_001349338.3(FOXP1):c.802T>A (p.Ser268Thr) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003338112] | uncertain significance | 3 | 71041395 | 71041395 | Human | 1 | name |
| 401862452 | CV2775308 | single nucleotide variant | NM_001349338.3(FOXP1):c.574C>A (p.Gln192Lys) | Inborn genetic diseases [RCV003343230] | uncertain significance | 3 | 71047032 | 71047032 | Human | 1 | name |
| 401947022 | CV2831951 | single nucleotide variant | NM_001349338.3(FOXP1):c.910G>T (p.Gly304Ter) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003447458] | likely pathogenic | 3 | 71015613 | 71015613 | Human | 1 | name |
| 401944675 | CV2840463 | deletion | NM_001349338.3(FOXP1):c.972delA (p.Lys325fs) | not provided [RCV003457381] | pathogenic | 3 | 71015549 | 71015549 | Human | | name |
| 405036563 | CV2853520 | deletion | NM_001349338.3(FOXP1):c.1451del (p.Lys484fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003517512] | likely pathogenic | 3 | 70977020 | 70977020 | Human | 1 | name |
| 402492037 | CV2863139 | single nucleotide variant | NM_001349338.3(FOXP1):c.667A>G (p.Met223Val) | not provided [RCV003573110] | uncertain significance | 3 | 71041530 | 71041530 | Human | | name |
| 405206730 | CV2873992 | single nucleotide variant | NM_001349338.3(FOXP1):c.581A>C (p.Gln194Pro) | not provided [RCV003552037] | uncertain significance | 3 | 71047025 | 71047025 | Human | | name |
| 402493596 | CV2874218 | single nucleotide variant | NM_001349338.3(FOXP1):c.964T>G (p.Ser322Ala) | not provided [RCV003545165] | uncertain significance | 3 | 71015559 | 71015559 | Human | | name |
| 402501677 | CV2932376 | single nucleotide variant | NM_001349338.3(FOXP1):c.800C>T (p.Thr267Ile) | not provided [RCV003574056] | uncertain significance | 3 | 71041397 | 71041397 | Human | | name |
| 405083463 | CV2946380 | single nucleotide variant | NM_001349338.3(FOXP1):c.838C>T (p.Gln280Ter) | not provided [RCV003664786] | pathogenic | 3 | 71041359 | 71041359 | Human | | name |
| 405133571 | CV2959381 | single nucleotide variant | NM_001349338.3(FOXP1):c.496A>G (p.Lys166Glu) | not provided [RCV003668597] | uncertain significance | 3 | 71052551 | 71052551 | Human | | name |
| 11651053 | CV296095 | indel | NM_001349338.3(FOXP1):c.*3415delinsTGTGTGTGT | Intellectual Disability with Language Impairment and Autistic Features [RCV000296754] | uncertain significance | 3 | 70955832 | 70955832 | Human | | name |
| 11589596 | CV296188 | single nucleotide variant | NM_001349338.3(FOXP1):c.301A>G (p.Met101Val) | FOXP1-related disorder [RCV003404068]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003143478]|not provided [RCV003072796] | likely benign|uncertain significance | 3 | 71053755 | 71053755 | Human | 1 | name , alternate_id |
| 405227625 | CV2963627 | single nucleotide variant | NM_001349338.3(FOXP1):c.706A>T (p.Thr236Ser) | not provided [RCV003681696] | uncertain significance | 3 | 71041491 | 71041491 | Human | | name |
| 405232727 | CV2985414 | single nucleotide variant | NM_001349338.3(FOXP1):c.859A>C (p.Lys287Gln) | not provided [RCV003711785] | uncertain significance | 3 | 71041338 | 71041338 | Human | | name |
| 405230806 | CV2988187 | single nucleotide variant | NM_001349338.3(FOXP1):c.646C>T (p.Leu216Phe) | not provided [RCV003711488] | uncertain significance | 3 | 71046960 | 71046960 | Human | | name |
| 402486425 | CV2998858 | single nucleotide variant | NM_001349338.3(FOXP1):c.892C>T (p.His298Tyr) | not provided [RCV003687027] | likely benign | 3 | 71015631 | 71015631 | Human | | name |
| 404980764 | CV3006225 | single nucleotide variant | NM_001349338.3(FOXP1):c.497A>T (p.Lys166Ile) | not provided [RCV003691197] | likely benign | 3 | 71052550 | 71052550 | Human | | name |
| 405002251 | CV3006469 | single nucleotide variant | NM_001349338.3(FOXP1):c.653C>A (p.Pro218His) | not provided [RCV003693291] | likely benign | 3 | 71046953 | 71046953 | Human | | name |
| 405042754 | CV3007694 | single nucleotide variant | NM_001349338.3(FOXP1):c.427C>G (p.Leu143Val) | not provided [RCV003696450] | uncertain significance | 3 | 71052620 | 71052620 | Human | | name |
| 405030012 | CV3012574 | single nucleotide variant | NM_001349338.3(FOXP1):c.493G>A (p.Gly165Arg) | not provided [RCV003695495] | uncertain significance | 3 | 71052554 | 71052554 | Human | | name |
| 402521782 | CV3126952 | single nucleotide variant | NM_001349338.3(FOXP1):c.703G>A (p.Val235Met) | not provided [RCV003824870] | uncertain significance | 3 | 71041494 | 71041494 | Human | | name |
| 405210050 | CV3145944 | single nucleotide variant | NM_001349338.3(FOXP1):c.338A>C (p.Gln113Pro) | not provided [RCV003845674] | uncertain significance | 3 | 71053718 | 71053718 | Human | | name |
| 405258628 | CV3194021 | single nucleotide variant | NM_001349338.3(FOXP1):c.787G>C (p.Ala263Pro) | FOXP1-related disorder [RCV003893603] | uncertain significance | 3 | 71041410 | 71041410 | Human | | name , trait , alternate_id |
| 405282735 | CV3216832 | deletion | NM_001349338.3(FOXP1):c.1652+350_1652+367del | FOXP1-related disorder [RCV003979009] | likely benign | 3 | 70972188 | 70972205 | Human | | name , trait , alternate_id |
| 408377428 | CV3501578 | single nucleotide variant | NM_001349338.3(FOXP1):c.938G>A (p.Cys313Tyr) | not provided [RCV004727636] | uncertain significance | 3 | 71015585 | 71015585 | Human | | name |
| 408377548 | CV3507662 | single nucleotide variant | NM_001349338.3(FOXP1):c.766A>G (p.Thr256Ala) | FOXP1-related disorder [RCV004751001] | uncertain significance | 3 | 71041431 | 71041431 | Human | | name , trait , alternate_id |
| 408388821 | CV3522789 | single nucleotide variant | NM_001349338.3(FOXP1):c.712G>A (p.Ala238Thr) | not provided [RCV004769170] | uncertain significance | 3 | 71041485 | 71041485 | Human | | name |
| 408389079 | CV3522893 | single nucleotide variant | NM_001349338.3(FOXP1):c.861A>T (p.Lys287Asn) | not provided [RCV004769274] | uncertain significance | 3 | 71041336 | 71041336 | Human | | name |
| 408389905 | CV3524820 | single nucleotide variant | NM_001349338.3(FOXP1):c.670A>G (p.Ile224Val) | not provided [RCV004769715] | uncertain significance | 3 | 71041527 | 71041527 | Human | | name |
| 596922120 | CV3529689 | deletion | NM_001349338.3(FOXP1):c.1590del (p.Ala532fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004776547] | pathogenic | 3 | 70972617 | 70972617 | Human | 1 | name |
| 596921868 | CV3535496 | deletion | NM_001349338.3(FOXP1):c.1547del (p.Asn516fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004785051] | likely pathogenic | 3 | 70972660 | 70972660 | Human | 1 | name |
| 596925003 | CV3536862 | single nucleotide variant | NM_001349338.3(FOXP1):c.775G>C (p.Val259Leu) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004785856] | uncertain significance | 3 | 71041422 | 71041422 | Human | 1 | name |
| 596929039 | CV3540737 | single nucleotide variant | NM_001349338.3(FOXP1):c.412C>A (p.Leu138Ile) | not provided [RCV004795065] | uncertain significance | 3 | 71053644 | 71053644 | Human | | name |
| 597669549 | CV3669804 | single nucleotide variant | NM_001349338.3(FOXP1):c.713C>T (p.Ala238Val) | Inborn genetic diseases [RCV004980077] | uncertain significance | 3 | 71041484 | 71041484 | Human | 1 | name |
| 12849385 | CV367380 | single nucleotide variant | NM_001349338.3(FOXP1):c.574C>T (p.Gln192Ter) | not provided [RCV000429050] | pathogenic | 3 | 71047032 | 71047032 | Human | | name |
| 597664899 | CV3732570 | single nucleotide variant | NM_001349338.3(FOXP1):c.995C>G (p.Ala332Gly) | not provided [RCV005004039] | uncertain significance | 3 | 71001039 | 71001039 | Human | | name |
| 597896007 | CV3740377 | single nucleotide variant | NM_001349338.3(FOXP1):c.706A>G (p.Thr236Ala) | not provided [RCV005071730] | uncertain significance | 3 | 71041491 | 71041491 | Human | | name |
| 597912193 | CV3745580 | single nucleotide variant | NM_001349338.3(FOXP1):c.827C>G (p.Ser276Cys) | not provided [RCV005073581] | uncertain significance | 3 | 71041370 | 71041370 | Human | | name |
| 597965969 | CV3751467 | single nucleotide variant | NM_001349338.3(FOXP1):c.824C>T (p.Ala275Val) | not provided [RCV005082836] | uncertain significance | 3 | 71041373 | 71041373 | Human | | name |
| 597973021 | CV3790742 | single nucleotide variant | NM_001349338.3(FOXP1):c.346C>G (p.Leu116Val) | not provided [RCV005142957] | uncertain significance | 3 | 71053710 | 71053710 | Human | | name |
| 597968993 | CV3791113 | single nucleotide variant | NM_001349338.3(FOXP1):c.471A>C (p.Gln157His) | not provided [RCV005141145] | uncertain significance | 3 | 71052576 | 71052576 | Human | | name |
| 597954278 | CV3795744 | single nucleotide variant | NM_001349338.3(FOXP1):c.830C>G (p.Thr277Ser) | not provided [RCV005136754] | uncertain significance | 3 | 71041367 | 71041367 | Human | | name |
| 597927585 | CV3819871 | single nucleotide variant | NM_001349338.3(FOXP1):c.812T>C (p.Met271Thr) | not provided [RCV005156571] | uncertain significance | 3 | 71041385 | 71041385 | Human | | name |
| 597847753 | CV3824041 | single nucleotide variant | NM_001349338.3(FOXP1):c.895A>G (p.Ser299Gly) | not provided [RCV005173280] | uncertain significance | 3 | 71015628 | 71015628 | Human | | name |
| 597845087 | CV3880278 | single nucleotide variant | NM_001349338.3(FOXP1):c.604C>T (p.Gln202Ter) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005227172] | pathogenic | 3 | 71047002 | 71047002 | Human | 1 | name |
| 598126261 | CV3881840 | deletion | NM_001349338.3(FOXP1):c.1131del (p.Ala378fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005233392] | likely pathogenic | 3 | 70988009 | 70988009 | Human | 1 | name |
| 598126335 | CV3881870 | single nucleotide variant | NM_001349338.3(FOXP1):c.692T>A (p.Leu231His) | not provided [RCV005233422] | uncertain significance | 3 | 71041505 | 71041505 | Human | | name |
| 598129333 | CV3888629 | single nucleotide variant | NM_001349338.3(FOXP1):c.559C>T (p.Gln187Ter) | not provided [RCV005244803] | pathogenic | 3 | 71047047 | 71047047 | Human | | name |
| 598217608 | CV3970008 | single nucleotide variant | NM_001349338.3(FOXP1):c.924C>G (p.Cys308Trp) | Inborn genetic diseases [RCV005340040] | uncertain significance | 3 | 71015599 | 71015599 | Human | 1 | name |
| 598217619 | CV3970010 | single nucleotide variant | NM_001349338.3(FOXP1):c.823G>A (p.Ala275Thr) | Inborn genetic diseases [RCV005340042] | uncertain significance | 3 | 71041374 | 71041374 | Human | 1 | name |
| 616936474 | CV4009128 | single nucleotide variant | NM_001349338.3(FOXP1):c.596T>A (p.Leu199Ter) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005402309] | likely pathogenic | 3 | 71047010 | 71047010 | Human | 1 | name |
| 616935443 | CV4016051 | single nucleotide variant | NM_001349338.3(FOXP1):c.631C>T (p.Gln211Ter) | not provided [RCV005414916] | pathogenic | 3 | 71046975 | 71046975 | Human | | name |
| 617149451 | CV4018750 | single nucleotide variant | NM_001349338.3(FOXP1):c.852C>G (p.His284Gln) | not provided [RCV005422662] | uncertain significance | 3 | 71041345 | 71041345 | Human | | name |
| 13216507 | CV428217 | single nucleotide variant | NM_001349338.3(FOXP1):c.602G>A (p.Arg201His) | Inborn genetic diseases [RCV002527253]|not provided [RCV001764486]|not specified [RCV000503723] | uncertain significance | 3 | 71047004 | 71047004 | Human | 1 | name |
| 13213928 | CV428218 | single nucleotide variant | NM_001349338.3(FOXP1):c.306G>A (p.Met102Ile) | not specified [RCV000500622] | likely benign | 3 | 71053750 | 71053750 | Human | | name |
| 13446079 | CV438250 | single nucleotide variant | NM_001349338.3(FOXP1):c.526A>T (p.Thr176Ser) | not provided [RCV000513248] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 71047080 | 71047080 | Human | | name |
| 13516596 | CV490210 | single nucleotide variant | NM_001349338.3(FOXP1):c.622C>T (p.Gln208Ter) | Congenital cerebellar hypoplasia [RCV001257988]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000779638]|not provided [RCV000595726] | pathogenic|likely pathogenic | 3 | 71046984 | 71046984 | Human | 4 | name |
| 13521477 | CV495471 | deletion | NM_001349338.3(FOXP1):c.1071del (p.Asp358fs) | not provided [RCV000599484] | pathogenic | 3 | 70988069 | 70988069 | Human | | name |
| 13530240 | CV511510 | deletion | NM_001349338.3(FOXP1):c.1507del (p.Arg503fs) | Inborn genetic diseases [RCV000622344] | pathogenic | 3 | 70976964 | 70976964 | Human | 1 | name |
| 13530242 | CV511512 | single nucleotide variant | NM_001349338.3(FOXP1):c.598C>T (p.Gln200Ter) | Inborn genetic diseases [RCV000622348] | pathogenic | 3 | 71047008 | 71047008 | Human | 1 | name |
| 13830085 | CV579065 | single nucleotide variant | NM_001349338.3(FOXP1):c.676A>G (p.Thr226Ala) | Inborn genetic diseases [RCV002316699]|not provided [RCV002534946] | benign|likely benign | 3 | 71041521 | 71041521 | Human | 1 | name |
| 13829798 | CV579082 | single nucleotide variant | NM_001349338.3(FOXP1):c.319A>G (p.Ile107Val) | Inborn genetic diseases [RCV002318102]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004760755] | likely pathogenic|uncertain significance | 3 | 71053737 | 71053737 | Human | 2 | name |
| 14396117 | CV611597 | single nucleotide variant | NM_001349338.3(FOXP1):c.529C>T (p.Gln177Ter) | Inborn genetic diseases [RCV002533850]|not provided [RCV000760850] | pathogenic | 3 | 71047077 | 71047077 | Human | 1 | name |
| 21071217 | CV790420 | single nucleotide variant | NM_001349338.3(FOXP1):c.490G>A (p.Ala164Thr) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000987291] | uncertain significance | 3 | 71052557 | 71052557 | Human | 1 | name |
| 21404760 | CV800393 | single nucleotide variant | NM_001349338.3(FOXP1):c.407T>A (p.Leu136His) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001002796] | uncertain significance | 3 | 71053649 | 71053649 | Human | 1 | name |
| 38598105 | CV963131 | duplication | NM_001349338.3(FOXP1):c.1103dup (p.His368fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001251131] | likely pathogenic | 3 | 70988036 | 70988037 | Human | 1 | name |
| 38597769 | CV964228 | duplication | NM_001349338.3(FOXP1):c.1248dup (p.Val417fs) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001253110] | pathogenic | 3 | 70977927 | 70977928 | Human | 1 | name |
| 39456474 | CV965482 | single nucleotide variant | NM_001349338.3(FOXP1):c.734C>T (p.Thr245Ile) | not provided [RCV001255099] | uncertain significance | 3 | 71041463 | 71041463 | Human | | name |
| 40886809 | CV973385 | deletion | NM_001349338.3(FOXP1):c.1569del (p.Phe523fs) | Inborn genetic diseases [RCV001266061] | pathogenic | 3 | 70972638 | 70972638 | Human | 1 | name |
| 126738154 | CV1000415 | single nucleotide variant | NM_001349338.3(FOXP1):c.1396C>A (p.Pro466Thr) | not provided [RCV001312033] | pathogenic | 3 | 70977675 | 70977675 | Human | | name |
| 126725629 | CV1016318 | single nucleotide variant | NM_001349338.3(FOXP1):c.1664T>C (p.Leu555Pro) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001331511] | uncertain significance | 3 | 70970794 | 70970794 | Human | 1 | name |
| 126725627 | CV1016319 | single nucleotide variant | NM_001349338.3(FOXP1):c.1313G>A (p.Arg438Gln) | Autism spectrum disorder [RCV003127807]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001331510]|not provided [RCV003328675] | likely benign|uncertain significance | 3 | 70977863 | 70977863 | Human | 3 | name |
| 127233473 | CV1053911 | single nucleotide variant | NM_001349338.3(FOXP1):c.1426C>T (p.Gln476Ter) | Intellectual disability [RCV001376151]|not provided [RCV003558826] | pathogenic | 3 | 70977645 | 70977645 | Human | 2 | name |
| 127261759 | CV1087321 | single nucleotide variant | NM_001349338.3(FOXP1):c.1888G>A (p.Val630Met) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001420646]|not provided [RCV002554094] | benign|uncertain significance | 3 | 70965891 | 70965891 | Human | 1 | name |
| 151233790 | CV1153018 | single nucleotide variant | NM_001349338.3(FOXP1):c.1553G>A (p.Ser518Asn) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001788526] | pathogenic | 3 | 70972654 | 70972654 | Human | 1 | name |
| 150332219 | CV1163757 | single nucleotide variant | NM_001349338.3(FOXP1):c.1778C>A (p.Pro593His) | Atrial septal defect 1 [RCV001528148]|not provided [RCV002568862] | pathogenic|uncertain significance | 3 | 70966001 | 70966001 | Human | 1 | name |
| 150432400 | CV1200633 | single nucleotide variant | NM_001349338.3(FOXP1):c.1355T>C (p.Ile452Thr) | not provided [RCV001581356] | uncertain significance | 3 | 70977716 | 70977716 | Human | | name |
| 150470648 | CV1209363 | single nucleotide variant | NM_001349338.3(FOXP1):c.1768A>G (p.Met590Val) | not provided [RCV001588474] | likely benign | 3 | 70966011 | 70966011 | Human | | name |
| 150529231 | CV1288785 | single nucleotide variant | NM_001349338.3(FOXP1):c.1807C>T (p.Arg603Trp) | not provided [RCV001727253] | uncertain significance | 3 | 70965972 | 70965972 | Human | | name |
| 150520458 | CV1289670 | single nucleotide variant | NM_001349338.3(FOXP1):c.1891C>T (p.His631Tyr) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001730089]|not provided [RCV001762742] | uncertain significance | 3 | 70959390 | 70959390 | Human | 1 | name |
| 150533265 | CV1294147 | single nucleotide variant | NM_001349338.3(FOXP1):c.1297G>A (p.Gly433Arg) | not provided [RCV001758165] | uncertain significance | 3 | 70977879 | 70977879 | Human | | name |
| 150549526 | CV1295298 | single nucleotide variant | NM_001349338.3(FOXP1):c.1237C>G (p.Pro413Ala) | not provided [RCV001765198] | uncertain significance | 3 | 70977939 | 70977939 | Human | | name |
| 150546391 | CV1296209 | single nucleotide variant | NM_001349338.3(FOXP1):c.1482G>C (p.Trp494Cys) | not provided [RCV001763499] | uncertain significance | 3 | 70976989 | 70976989 | Human | | name |
| 150556172 | CV1296717 | single nucleotide variant | NM_001349338.3(FOXP1):c.1849G>A (p.Glu617Lys) | not provided [RCV001774007] | uncertain significance | 3 | 70965930 | 70965930 | Human | | name |
| 150551174 | CV1297220 | single nucleotide variant | NM_001349338.3(FOXP1):c.1490G>A (p.Arg497Gln) | not provided [RCV001766902] | uncertain significance | 3 | 70976981 | 70976981 | Human | | name |
| 150554886 | CV1304636 | single nucleotide variant | NM_001349338.3(FOXP1):c.1523C>T (p.Thr508Met) | not provided [RCV001771606] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 3 | 70976948 | 70976948 | Human | | name |
| 150550724 | CV1305104 | single nucleotide variant | NM_001349338.3(FOXP1):c.1067C>T (p.Ala356Val) | not provided [RCV001765884] | uncertain significance | 3 | 70988073 | 70988073 | Human | | name |
| 150556839 | CV1305804 | single nucleotide variant | NM_001349338.3(FOXP1):c.1949C>A (p.Ser650Tyr) | not provided [RCV001774789] | uncertain significance | 3 | 70959332 | 70959332 | Human | | name |
| 150543548 | CV1309522 | single nucleotide variant | NM_001349338.3(FOXP1):c.1021T>C (p.Cys341Arg) | not provided [RCV003238575] | likely pathogenic | 3 | 71001013 | 71001013 | Human | | name |
| 150557050 | CV1310377 | single nucleotide variant | NM_001349338.3(FOXP1):c.1427A>C (p.Gln476Pro) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001775305] | likely pathogenic | 3 | 70977644 | 70977644 | Human | 1 | name |
| 150535263 | CV1311829 | single nucleotide variant | NM_001349338.3(FOXP1):c.1722G>C (p.Gln574His) | not provided [RCV001779639] | likely pathogenic | 3 | 70970736 | 70970736 | Human | | name |
| 151233204 | CV1317004 | single nucleotide variant | NM_001349338.3(FOXP1):c.1964C>T (p.Ala655Val) | not provided [RCV001786824] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 70959317 | 70959317 | Human | | name |
| 151350115 | CV1324599 | single nucleotide variant | NM_001349338.3(FOXP1):c.1982T>C (p.Phe661Ser) | Inborn genetic diseases [RCV005341056]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001809044]|not provided [RCV003728014] | uncertain significance | 3 | 70959299 | 70959299 | Human | 2 | name |
| 151354129 | CV1327681 | single nucleotide variant | NM_001349338.3(FOXP1):c.1737G>C (p.Glu579Asp) | not provided [RCV004809677]|not specified [RCV001817625] | likely benign | 3 | 70966042 | 70966042 | Human | | name |
| 151662031 | CV1330187 | single nucleotide variant | NM_001349338.3(FOXP1):c.1028T>G (p.Val343Gly) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001823599] | uncertain significance | 3 | 71001006 | 71001006 | Human | 1 | name |
| 151733657 | CV1386795 | single nucleotide variant | NM_001349338.3(FOXP1):c.1675A>G (p.Met559Val) | not provided [RCV001911132] | uncertain significance | 3 | 70970783 | 70970783 | Human | | name |
| 151879406 | CV1412671 | single nucleotide variant | NM_001349338.3(FOXP1):c.1234G>A (p.Ala412Thr) | Inborn genetic diseases [RCV002561328]|not provided [RCV001926234] | benign|likely benign|uncertain significance | 3 | 70977942 | 70977942 | Human | 1 | name |
| 151840443 | CV1432048 | single nucleotide variant | NM_001349338.3(FOXP1):c.1087C>T (p.Gln363Ter) | not provided [RCV001994675] | pathogenic | 3 | 70988053 | 70988053 | Human | | name |
| 152041066 | CV1519441 | single nucleotide variant | NM_001349338.3(FOXP1):c.1201C>T (p.Gln401Ter) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002071013] | likely pathogenic | 3 | 70977975 | 70977975 | Human | 1 | name |
| 9589632 | CV166312 | single nucleotide variant | NM_001349338.3(FOXP1):c.1600T>C (p.Trp534Arg) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000144697]|not provided [RCV005089672] | pathogenic|likely pathogenic|uncertain significance | 3 | 70972607 | 70972607 | Human | 1 | name |
| 152154385 | CV1667894 | single nucleotide variant | NM_001349338.3(FOXP1):c.1379A>G (p.Lys460Arg) | not provided [RCV002221787] | uncertain significance | 3 | 70977692 | 70977692 | Human | | name |
| 155641997 | CV1707206 | single nucleotide variant | NM_001349338.3(FOXP1):c.1963G>A (p.Ala655Thr) | not provided [RCV002288136] | uncertain significance | 3 | 70959318 | 70959318 | Human | | name |
| 155643931 | CV1708245 | single nucleotide variant | NM_001349338.3(FOXP1):c.1270A>G (p.Ile424Val) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002290234] | uncertain significance | 3 | 70977906 | 70977906 | Human | 1 | name |
| 155694691 | CV1771938 | single nucleotide variant | NM_001349338.3(FOXP1):c.2020G>C (p.Glu674Gln) | not provided [RCV002299520] | uncertain significance | 3 | 70959261 | 70959261 | Human | | name |
| 9688353 | CV177352 | single nucleotide variant | NM_001349338.3(FOXP1):c.1328A>G (p.Tyr443Cys) | not provided [RCV003727626]|not specified [RCV000153267] | benign|likely benign | 3 | 70977848 | 70977848 | Human | | name |
| 155705115 | CV1774935 | single nucleotide variant | NM_001349338.3(FOXP1):c.1802C>T (p.Ala601Val) | not provided [RCV002300178] | uncertain significance | 3 | 70965977 | 70965977 | Human | | name |
| 155714603 | CV1776014 | single nucleotide variant | NM_001349338.3(FOXP1):c.1835A>T (p.His612Leu) | not provided [RCV002296346] | uncertain significance | 3 | 70965944 | 70965944 | Human | | name |
| 155749952 | CV1776846 | single nucleotide variant | NM_001349338.3(FOXP1):c.1516G>A (p.Ala506Thr) | not provided [RCV002305196] | uncertain significance | 3 | 70976955 | 70976955 | Human | | name |
| 155749840 | CV1779079 | single nucleotide variant | NM_001349338.3(FOXP1):c.1432A>C (p.Ile478Leu) | not provided [RCV002305077] | uncertain significance | 3 | 70977039 | 70977039 | Human | | name |
| 155670125 | CV1832278 | single nucleotide variant | NM_001349338.3(FOXP1):c.1316A>T (p.Tyr439Phe) | Inborn genetic diseases [RCV002385575]|not provided [RCV003094962] | benign|likely benign | 3 | 70977860 | 70977860 | Human | 1 | name |
| 155733905 | CV1842734 | single nucleotide variant | NM_001349338.3(FOXP1):c.1903G>A (p.Val635Ile) | Inborn genetic diseases [RCV002408305]|not provided [RCV003097338] | uncertain significance | 3 | 70959378 | 70959378 | Human | 1 | name |
| 155797014 | CV1863126 | single nucleotide variant | NM_001349338.3(FOXP1):c.1223C>T (p.Thr408Met) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002470400] | uncertain significance | 3 | 70977953 | 70977953 | Human | 1 | name |
| 156403274 | CV1908590 | single nucleotide variant | NM_001349338.3(FOXP1):c.1681A>G (p.Ser561Gly) | not provided [RCV002605865] | likely benign|uncertain significance | 3 | 70970777 | 70970777 | Human | | name |
| 156019776 | CV1909413 | single nucleotide variant | NM_001349338.3(FOXP1):c.1808G>A (p.Arg603Gln) | not provided [RCV002619334] | likely benign|uncertain significance | 3 | 70965971 | 70965971 | Human | | name |
| 155958949 | CV1911958 | single nucleotide variant | NM_001349338.3(FOXP1):c.1249G>A (p.Val417Ile) | not provided [RCV002616636] | likely benign | 3 | 70977927 | 70977927 | Human | | name |
| 156027384 | CV1913931 | single nucleotide variant | NM_001349338.3(FOXP1):c.1291A>G (p.Thr431Ala) | Inborn genetic diseases [RCV004621730]|not provided [RCV002619693] | benign|likely benign | 3 | 70977885 | 70977885 | Human | 1 | name |
| 10047938 | CV191729 | single nucleotide variant | NM_001349338.3(FOXP1):c.1317C>A (p.Tyr439Ter) | not provided [RCV000174956] | pathogenic | 3 | 70977859 | 70977859 | Human | | name |
| 10048050 | CV192058 | single nucleotide variant | NM_001349338.3(FOXP1):c.1624C>T (p.Gln542Ter) | not provided [RCV000175370] | pathogenic | 3 | 70972583 | 70972583 | Human | | name |
| 156439013 | CV1943877 | single nucleotide variant | NM_001349338.3(FOXP1):c.1851G>C (p.Glu617Asp) | not provided [RCV003108966] | uncertain significance | 3 | 70965928 | 70965928 | Human | | name |
| 156210236 | CV1955724 | single nucleotide variant | NM_001349338.3(FOXP1):c.1285A>G (p.Met429Val) | Congenital heart disease [RCV005356143]|not provided [RCV002575124] | uncertain significance | 3 | 70977891 | 70977891 | Human | 1 | name |
| 156415691 | CV1966186 | single nucleotide variant | NM_001349338.3(FOXP1):c.1685G>A (p.Ser562Asn) | not provided [RCV002589311] | uncertain significance | 3 | 70970773 | 70970773 | Human | | name |
| 156411312 | CV1976223 | single nucleotide variant | NM_001349338.3(FOXP1):c.1384G>A (p.Ala462Thr) | not provided [RCV002587449] | likely benign|uncertain significance | 3 | 70977687 | 70977687 | Human | | name |
| 155915819 | CV1980853 | single nucleotide variant | NM_001349338.3(FOXP1):c.1586T>G (p.Val529Gly) | not provided [RCV002614307] | uncertain significance | 3 | 70972621 | 70972621 | Human | | name |
| 156393786 | CV1984260 | single nucleotide variant | NM_001349338.3(FOXP1):c.1879A>G (p.Met627Val) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004771525]|not provided [RCV002635254] | uncertain significance | 3 | 70965900 | 70965900 | Human | 1 | name |
| 156085516 | CV1987584 | single nucleotide variant | NM_001349338.3(FOXP1):c.1530G>T (p.Lys510Asn) | not provided [RCV002621683] | uncertain significance | 3 | 70976941 | 70976941 | Human | | name |
| 156188474 | CV2020778 | single nucleotide variant | NM_001349338.3(FOXP1):c.1661C>G (p.Ser554Cys) | not provided [RCV002711007] | uncertain significance | 3 | 70970797 | 70970797 | Human | | name |
| 156178744 | CV2023225 | single nucleotide variant | NM_001349338.3(FOXP1):c.1343C>T (p.Ser448Leu) | not provided [RCV002765551] | likely benign | 3 | 70977833 | 70977833 | Human | | name |
| 156314385 | CV2031797 | single nucleotide variant | NM_001349338.3(FOXP1):c.1198C>G (p.Pro400Ala) | not provided [RCV002716717] | uncertain significance | 3 | 70977978 | 70977978 | Human | | name |
| 156014251 | CV2051632 | single nucleotide variant | NM_001349338.3(FOXP1):c.1831G>A (p.Glu611Lys) | not provided [RCV002820289] | likely benign | 3 | 70965948 | 70965948 | Human | | name |
| 156239412 | CV2053021 | single nucleotide variant | NM_001349338.3(FOXP1):c.1118C>A (p.Ser373Tyr) | not provided [RCV002791295] | uncertain significance | 3 | 70988022 | 70988022 | Human | | name |
| 155972807 | CV2062576 | single nucleotide variant | NM_001349338.3(FOXP1):c.1833G>T (p.Glu611Asp) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003485794]|not provided [RCV002842158] | likely benign|uncertain significance | 3 | 70965946 | 70965946 | Human | 1 | name |
| 155992626 | CV2063829 | single nucleotide variant | NM_001349338.3(FOXP1):c.1604C>T (p.Thr535Ile) | not provided [RCV002843029] | uncertain significance | 3 | 70972603 | 70972603 | Human | | name |
| 156352469 | CV2065935 | single nucleotide variant | NM_001349338.3(FOXP1):c.1948T>A (p.Ser650Thr) | not provided [RCV002811886] | uncertain significance | 3 | 70959333 | 70959333 | Human | | name |
| 10404426 | CV207082 | single nucleotide variant | NM_001349338.3(FOXP1):c.1709A>G (p.Asn570Ser) | FOXP1-related disorder [RCV003955151]|Inborn genetic diseases [RCV002317684]|not provided [RCV000906508]|not specified [RCV000195019] | benign|likely benign|conflicting interpretations of pathogenicity | 3 | 70970749 | 70970749 | Human | 2 | name , alternate_id |
| 10408453 | CV207083 | single nucleotide variant | NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) | Inborn genetic diseases [RCV000623483]|Intellectual disability [RCV001260761]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000194178]|See cases [RCV001420209]|not provided [RCV000478429] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 3 | 70972666 | 70972666 | Human | 4 | name |
| 10406609 | CV207084 | single nucleotide variant | NM_001349338.3(FOXP1):c.1510C>G (p.Arg504Gly) | not specified [RCV000193369] | uncertain significance | 3 | 70976961 | 70976961 | Human | | name |
| 10407023 | CV207085 | single nucleotide variant | NM_001349338.3(FOXP1):c.1507C>T (p.Arg503Ter) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000195136]|not provided [RCV000423150] | pathogenic|likely pathogenic | 3 | 70976964 | 70976964 | Human | 1 | name |
| 156033753 | CV2097612 | single nucleotide variant | NM_001349338.3(FOXP1):c.1859G>A (p.Ser620Asn) | not provided [RCV002885515] | uncertain significance | 3 | 70965920 | 70965920 | Human | | name |
| 156271277 | CV2103048 | single nucleotide variant | NM_001349338.3(FOXP1):c.1801G>A (p.Ala601Thr) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005429087]|not provided [RCV002895931] | likely benign|not provided | 3 | 70965978 | 70965978 | Human | 1 | name |
| 156098233 | CV2116981 | single nucleotide variant | NM_001349338.3(FOXP1):c.1079A>C (p.Glu360Ala) | not provided [RCV002952637] | uncertain significance | 3 | 70988061 | 70988061 | Human | | name |
| 155996201 | CV2122592 | single nucleotide variant | NM_001349338.3(FOXP1):c.1489C>G (p.Arg497Gly) | not provided [RCV002974964] | likely benign|uncertain significance | 3 | 70976982 | 70976982 | Human | | name |
| 156127606 | CV2124981 | single nucleotide variant | NM_001349338.3(FOXP1):c.1961C>T (p.Thr654Ile) | not provided [RCV002953752] | uncertain significance | 3 | 70959320 | 70959320 | Human | | name |
| 156218157 | CV2128095 | single nucleotide variant | NM_001349338.3(FOXP1):c.1240C>G (p.Leu414Val) | not provided [RCV002958031] | uncertain significance | 3 | 70977936 | 70977936 | Human | | name |
| 155945786 | CV2130216 | single nucleotide variant | NM_001349338.3(FOXP1):c.1955T>G (p.Val652Gly) | not provided [RCV002971572] | benign | 3 | 70959326 | 70959326 | Human | | name |
| 156363347 | CV2130399 | single nucleotide variant | NM_001349338.3(FOXP1):c.1790A>G (p.Asn597Ser) | not provided [RCV002967123] | benign | 3 | 70965989 | 70965989 | Human | | name |
| 156121815 | CV2137627 | single nucleotide variant | NM_001349338.3(FOXP1):c.1843A>G (p.Ser615Gly) | not provided [RCV003003012] | uncertain significance | 3 | 70965936 | 70965936 | Human | | name |
| 11039839 | CV213912 | single nucleotide variant | NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) | FOXP1-related disorder [RCV003417726]|INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES [RCV004701260]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000207490]|not provided [RCV001267938] | pathogenic | 3 | 70972667 | 70972667 | Human | 1 | name , alternate_id |
| 11039838 | CV213913 | single nucleotide variant | NM_001349338.3(FOXP1):c.1393A>G (p.Arg465Gly) | INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES [RCV004701259]|Intellectual disability [RCV001260764]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000207489] | pathogenic|likely pathogenic | 3 | 70977678 | 70977678 | Human | 3 | name |
| 11039836 | CV213914 | single nucleotide variant | NM_001349338.3(FOXP1):c.1317C>G (p.Tyr439Ter) | INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES [RCV004701261]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000207487] | pathogenic | 3 | 70977859 | 70977859 | Human | 1 | name |
| 156023801 | CV2145487 | single nucleotide variant | NM_001349338.3(FOXP1):c.2024A>G (p.Asp675Gly) | not provided [RCV003018357] | likely benign | 3 | 70959257 | 70959257 | Human | | name |
| 156043149 | CV2147063 | single nucleotide variant | NM_001349338.3(FOXP1):c.1556T>C (p.Leu519Pro) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003146730]|not provided [RCV003019137] | pathogenic|uncertain significance | 3 | 70972651 | 70972651 | Human | 1 | name |
| 155972067 | CV2152680 | single nucleotide variant | NM_001349338.3(FOXP1):c.1934C>G (p.Ala645Gly) | not provided [RCV003015983] | uncertain significance | 3 | 70959347 | 70959347 | Human | | name |
| 156001001 | CV2159531 | single nucleotide variant | NM_001349338.3(FOXP1):c.1193C>T (p.Ala398Val) | Inborn genetic diseases [RCV004978484]|not provided [RCV003017272] | likely benign|uncertain significance | 3 | 70977983 | 70977983 | Human | 1 | name |
| 156396666 | CV2178234 | single nucleotide variant | NM_001349338.3(FOXP1):c.1957A>G (p.Thr653Ala) | not provided [RCV003051905] | uncertain significance | 3 | 70959324 | 70959324 | Human | | name |
| 156332484 | CV2181755 | single nucleotide variant | NM_001349338.3(FOXP1):c.1793T>C (p.Leu598Ser) | not provided [RCV003047299] | uncertain significance | 3 | 70965986 | 70965986 | Human | | name |
| 156131271 | CV2182139 | single nucleotide variant | NM_001349338.3(FOXP1):c.1786G>A (p.Gly596Ser) | not provided [RCV003055847] | uncertain significance | 3 | 70965993 | 70965993 | Human | | name |
| 156043869 | CV2188154 | single nucleotide variant | NM_001349338.3(FOXP1):c.1162A>T (p.Ser388Cys) | not provided [RCV003036672] | likely benign|conflicting interpretations of pathogenicity | 3 | 70978014 | 70978014 | Human | | name |
| 156124546 | CV2227360 | single nucleotide variant | NM_001349338.3(FOXP1):c.1739A>G (p.Asn580Ser) | Inborn genetic diseases [RCV002708063]|not provided [RCV005099579] | uncertain significance | 3 | 70966040 | 70966040 | Human | 1 | name |
| 156124716 | CV2227381 | single nucleotide variant | NM_001349338.3(FOXP1):c.1549C>T (p.Leu517Phe) | Inborn genetic diseases [RCV002708074]|not provided [RCV005227824] | pathogenic|uncertain significance | 3 | 70972658 | 70972658 | Human | 1 | name |
| 156172490 | CV2267909 | single nucleotide variant | NM_001349338.3(FOXP1):c.1783C>G (p.Leu595Val) | Inborn genetic diseases [RCV002828030] | uncertain significance | 3 | 70965996 | 70965996 | Human | 1 | name |
| 156284673 | CV2317560 | single nucleotide variant | NM_001349338.3(FOXP1):c.1872A>T (p.Arg624Ser) | Inborn genetic diseases [RCV002935160]|not provided [RCV003320926] | uncertain significance | 3 | 70965907 | 70965907 | Human | 1 | name |
| 156440113 | CV2401798 | single nucleotide variant | NM_001349338.3(FOXP1):c.1127C>T (p.Pro376Leu) | not provided [RCV003110086] | uncertain significance | 3 | 70988013 | 70988013 | Human | | name |
| 156451335 | CV2402730 | single nucleotide variant | NM_001349338.3(FOXP1):c.1277C>T (p.Thr426Ile) | not specified [RCV003123536] | uncertain significance | 3 | 70977899 | 70977899 | Human | | name |
| 156435509 | CV2403613 | single nucleotide variant | NM_001349338.3(FOXP1):c.1280C>T (p.Thr427Ile) | Developmental disorder [RCV003128075] | uncertain significance | 3 | 70977896 | 70977896 | Human | 1 | name |
| 243053480 | CV2410201 | single nucleotide variant | NM_001349338.3(FOXP1):c.1286T>G (p.Met429Arg) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003144087] | uncertain significance | 3 | 70977890 | 70977890 | Human | 1 | name |
| 243053486 | CV2410204 | single nucleotide variant | NM_001349338.3(FOXP1):c.1690G>A (p.Ala564Thr) | Inborn genetic diseases [RCV004978793]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003144090]|not provided [RCV003778881] | likely benign|uncertain significance | 3 | 70970768 | 70970768 | Human | 2 | name |
| 329349389 | CV2473278 | single nucleotide variant | NM_001349338.3(FOXP1):c.1946T>C (p.Leu649Pro) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV003221319] | uncertain significance | 3 | 70959335 | 70959335 | Human | 1 | name |
| 11578529 | CV264185 | single nucleotide variant | NM_001349338.3(FOXP1):c.1409A>G (p.Tyr470Cys) | not provided [RCV000283441] | pathogenic | 3 | 70977662 | 70977662 | Human | | name |
| 401724291 | CV2672242 | single nucleotide variant | NM_001349338.3(FOXP1):c.1264T>C (p.Ser422Pro) | not provided [RCV003239143] | uncertain significance | 3 | 70977912 | 70977912 | Human | | name |
| 401754619 | CV2682254 | single nucleotide variant | NM_001349338.3(FOXP1):c.1711G>A (p.Ala571Thr) | Inborn genetic diseases [RCV003255055]|not provided [RCV003730490] | benign|likely benign | 3 | 70970747 | 70970747 | Human | 1 | name |
| 11638623 | CV268629 | single nucleotide variant | NM_001349338.3(FOXP1):c.2020G>A (p.Glu674Lys) | Inborn genetic diseases [RCV003258724]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002265725]|not provided [RCV000306177] | likely benign|uncertain significance | 3 | 70959261 | 70959261 | Human | 2 | name |
| 401753718 | CV2722563 | single nucleotide variant | NM_001349338.3(FOXP1):c.1256A>G (p.Gln419Arg) | Inborn genetic diseases [RCV003277786] | uncertain significance | 3 | 70977920 | 70977920 | Human | 1 | name |
| 401795857 | CV2742821 | single nucleotide variant | NM_001349338.3(FOXP1):c.1016C>A (p.Ala339Asp) | not provided [RCV003325337] | likely pathogenic | 3 | 71001018 | 71001018 | Human | | name |
| 401828802 | CV2743137 | single nucleotide variant | NM_001349338.3(FOXP1):c.1822G>C (p.Gly608Arg) | not provided [RCV003325846] | uncertain significance | 3 | 70965957 | 70965957 | Human | | name |
| 401937913 | CV2797110 | single nucleotide variant | NM_001349338.3(FOXP1):c.1438G>A (p.Glu480Lys) | FOXP1-related disorder [RCV003416911]|not provided [RCV003730579] | likely pathogenic|uncertain significance | 3 | 70977033 | 70977033 | Human | 1 | name , alternate_id |
| 401913716 | CV2799635 | single nucleotide variant | NM_001349338.3(FOXP1):c.1168A>T (p.Thr390Ser) | FOXP1-related disorder [RCV003427949]|not provided [RCV003732578] | uncertain significance | 3 | 70978008 | 70978008 | Human | 1 | name , alternate_id |
| 401934721 | CV2802784 | single nucleotide variant | NM_001349338.3(FOXP1):c.1883A>G (p.Gln628Arg) | FOXP1-related disorder [RCV003412147] | uncertain significance | 3 | 70965896 | 70965896 | Human | | name , trait , alternate_id |
| 401913234 | CV2830274 | single nucleotide variant | NM_001349338.3(FOXP1):c.1365C>G (p.Asn455Lys) | not provided [RCV003441489] | uncertain significance | 3 | 70977706 | 70977706 | Human | | name |
| 401914430 | CV2830693 | single nucleotide variant | NM_001349338.3(FOXP1):c.1095G>T (p.Met365Ile) | not provided [RCV003442431] | uncertain significance | 3 | 70988045 | 70988045 | Human | | name |
| 401944674 | CV2840462 | single nucleotide variant | NM_001349338.3(FOXP1):c.1106T>C (p.Leu369Pro) | not provided [RCV003457380] | uncertain significance | 3 | 70988034 | 70988034 | Human | | name |
| 402511431 | CV2858911 | single nucleotide variant | NM_001349338.3(FOXP1):c.1928A>T (p.Glu643Val) | not provided [RCV003547056] | uncertain significance | 3 | 70959353 | 70959353 | Human | | name |
| 402481785 | CV2860488 | single nucleotide variant | NM_001349338.3(FOXP1):c.1589A>T (p.Lys530Ile) | not provided [RCV003544107] | uncertain significance | 3 | 70972618 | 70972618 | Human | | name |
| 402479973 | CV2863900 | single nucleotide variant | NM_001349338.3(FOXP1):c.1179G>C (p.Lys393Asn) | not provided [RCV003543916] | likely benign|uncertain significance | 3 | 70977997 | 70977997 | Human | | name |
| 405020133 | CV2866207 | single nucleotide variant | NM_001349338.3(FOXP1):c.1766C>G (p.Ser589Cys) | not provided [RCV003577469] | uncertain significance | 3 | 70966013 | 70966013 | Human | | name |
| 405221372 | CV2908148 | single nucleotide variant | NM_001349338.3(FOXP1):c.1541G>T (p.Arg514Leu) | not provided [RCV003568487] | uncertain significance | 3 | 70972666 | 70972666 | Human | | name |
| 405221793 | CV2908265 | single nucleotide variant | NM_001349338.3(FOXP1):c.1394G>A (p.Arg465Lys) | not provided [RCV003568547] | uncertain significance | 3 | 70977677 | 70977677 | Human | | name |
| 405208826 | CV2919809 | single nucleotide variant | NM_001349338.3(FOXP1):c.1952T>C (p.Leu651Ser) | not provided [RCV003566865] | uncertain significance | 3 | 70959329 | 70959329 | Human | | name |
| 405183811 | CV2920316 | single nucleotide variant | NM_001349338.3(FOXP1):c.1705C>G (p.Leu569Val) | not provided [RCV003564255] | uncertain significance | 3 | 70970753 | 70970753 | Human | | name |
| 405189363 | CV2924523 | single nucleotide variant | NM_001349338.3(FOXP1):c.1750C>A (p.Leu584Ile) | not provided [RCV003564763] | uncertain significance | 3 | 70966029 | 70966029 | Human | | name |
| 405007869 | CV2929660 | single nucleotide variant | NM_001349338.3(FOXP1):c.1144C>A (p.Pro382Thr) | not provided [RCV003576407] | uncertain significance | 3 | 70987996 | 70987996 | Human | | name |
| 405040616 | CV2929870 | single nucleotide variant | NM_001349338.3(FOXP1):c.2014G>A (p.Val672Ile) | not provided [RCV003578990] | uncertain significance | 3 | 70959267 | 70959267 | Human | | name |
| 405069004 | CV2936903 | single nucleotide variant | NM_001349338.3(FOXP1):c.1826C>T (p.Ala609Val) | not provided [RCV003659304] | likely benign | 3 | 70965953 | 70965953 | Human | | name |
| 402513823 | CV2948516 | single nucleotide variant | NM_001349338.3(FOXP1):c.1283G>A (p.Ser428Asn) | not provided [RCV003662715] | uncertain significance | 3 | 70977893 | 70977893 | Human | | name |
| 11589253 | CV296151 | single nucleotide variant | NM_001349338.3(FOXP1):c.1217C>G (p.Thr406Ser) | Inborn genetic diseases [RCV002356476]|not provided [RCV001705514]|not specified [RCV000499532] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 3 | 70977959 | 70977959 | Human | 1 | name |
| 405211736 | CV2966989 | single nucleotide variant | NM_001349338.3(FOXP1):c.1510C>T (p.Arg504Cys) | not provided [RCV003679447] | uncertain significance | 3 | 70976961 | 70976961 | Human | | name |
| 405229430 | CV2967966 | single nucleotide variant | NM_001349338.3(FOXP1):c.1492A>G (p.Met498Val) | not provided [RCV003682003] | uncertain significance | 3 | 70976979 | 70976979 | Human | | name |
| 405198352 | CV2973079 | single nucleotide variant | NM_001349338.3(FOXP1):c.1854T>G (p.Ser618Arg) | not provided [RCV003677922] | uncertain significance | 3 | 70965925 | 70965925 | Human | | name |
| 405228646 | CV2973749 | single nucleotide variant | NM_001349338.3(FOXP1):c.1736A>G (p.Glu579Gly) | not provided [RCV003681875] | uncertain significance | 3 | 70966043 | 70966043 | Human | | name |
| 405201118 | CV2978993 | single nucleotide variant | NM_001349338.3(FOXP1):c.1482G>A (p.Trp494Ter) | not provided [RCV003678193] | pathogenic | 3 | 70976989 | 70976989 | Human | | name |
| 405223031 | CV2986368 | single nucleotide variant | NM_001349338.3(FOXP1):c.1841A>G (p.Asn614Ser) | not provided [RCV003680982] | uncertain significance | 3 | 70965938 | 70965938 | Human | | name |
| 402496343 | CV3005849 | single nucleotide variant | NM_001349338.3(FOXP1):c.1214A>G (p.His405Arg) | not provided [RCV003688049] | uncertain significance | 3 | 70977962 | 70977962 | Human | | name |
| 405115977 | CV3020054 | single nucleotide variant | NM_001349338.3(FOXP1):c.1525T>C (p.Trp509Arg) | not provided [RCV003700244] | uncertain significance | 3 | 70976946 | 70976946 | Human | | name |
| 405251709 | CV3046225 | single nucleotide variant | NM_001349338.3(FOXP1):c.1677G>A (p.Met559Ile) | not provided [RCV003721976] | likely benign | 3 | 70970781 | 70970781 | Human | | name |
| 405137976 | CV3048660 | single nucleotide variant | NM_001349338.3(FOXP1):c.1615G>A (p.Val539Ile) | not provided [RCV003725397] | uncertain significance | 3 | 70972592 | 70972592 | Human | | name |
| 405181247 | CV3147544 | single nucleotide variant | NM_001349338.3(FOXP1):c.1081C>T (p.Arg361Cys) | not provided [RCV003842446] | uncertain significance | 3 | 70988059 | 70988059 | Human | | name |
| 405051550 | CV3150994 | single nucleotide variant | NM_001349338.3(FOXP1):c.1921G>A (p.Asp641Asn) | not provided [RCV003849598] | uncertain significance | 3 | 70959360 | 70959360 | Human | | name |
| 405248522 | CV3159318 | single nucleotide variant | NM_001349338.3(FOXP1):c.1858A>G (p.Ser620Gly) | not provided [RCV003869464] | likely benign|uncertain significance | 3 | 70965921 | 70965921 | Human | | name |
| 405209893 | CV3162625 | single nucleotide variant | NM_001349338.3(FOXP1):c.1975C>G (p.Pro659Ala) | not provided [RCV003861924] | uncertain significance | 3 | 70959306 | 70959306 | Human | | name |
| 405235892 | CV3166380 | single nucleotide variant | NM_001349338.3(FOXP1):c.1307G>A (p.Arg436His) | not provided [RCV003853829] | likely benign|uncertain significance | 3 | 70977869 | 70977869 | Human | | name |
| 405761947 | CV3250704 | single nucleotide variant | NM_001349338.3(FOXP1):c.1656C>A (p.Asn552Lys) | Inborn genetic diseases [RCV004394410] | uncertain significance | 3 | 70970802 | 70970802 | Human | 1 | name |
| 405761955 | CV3250705 | single nucleotide variant | NM_001349338.3(FOXP1):c.1731G>A (p.Met577Ile) | Inborn genetic diseases [RCV004394411] | uncertain significance | 3 | 70966048 | 70966048 | Human | 1 | name |
| 8558372 | CV33467 | single nucleotide variant | NM_001349338.3(FOXP1):c.1573C>T (p.Arg525Ter) | INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES [RCV003761738]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000005214]|not provided [RCV000760393] | pathogenic | 3 | 70972634 | 70972634 | Human | 1 | name |
| 407424796 | CV3410937 | single nucleotide variant | NM_001349338.3(FOXP1):c.1772G>C (p.Gly591Ala) | not provided [RCV004588627] | uncertain significance | 3 | 70966007 | 70966007 | Human | | name |
| 407429057 | CV3413444 | single nucleotide variant | NM_001349338.3(FOXP1):c.1433T>G (p.Ile478Ser) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004594852] | likely pathogenic | 3 | 70977038 | 70977038 | Human | 1 | name |
| 408386084 | CV3415552 | single nucleotide variant | NM_001349338.3(FOXP1):c.1397C>T (p.Pro466Leu) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004767653] | likely pathogenic | 3 | 70977674 | 70977674 | Human | 1 | name |
| 407494273 | CV3442783 | single nucleotide variant | NM_001349338.3(FOXP1):c.1615G>C (p.Val539Leu) | Inborn genetic diseases [RCV004621275] | uncertain significance | 3 | 70972592 | 70972592 | Human | 1 | name |
| 407494276 | CV3442784 | single nucleotide variant | NM_001349338.3(FOXP1):c.1616T>A (p.Val539Glu) | Inborn genetic diseases [RCV004621276] | uncertain significance | 3 | 70972591 | 70972591 | Human | 1 | name |
| 408365319 | CV3499788 | single nucleotide variant | NM_001349338.3(FOXP1):c.1661C>T (p.Ser554Phe) | not provided [RCV004721830] | uncertain significance | 3 | 70970797 | 70970797 | Human | | name |
| 408391533 | CV3521354 | single nucleotide variant | NM_001349338.3(FOXP1):c.1026A>T (p.Arg342Ser) | not provided [RCV004763176] | uncertain significance | 3 | 71001008 | 71001008 | Human | | name |
| 408389017 | CV3522860 | single nucleotide variant | NM_001349338.3(FOXP1):c.1035G>A (p.Met345Ile) | not provided [RCV004769241] | uncertain significance | 3 | 71000999 | 71000999 | Human | | name |
| 408393533 | CV3526179 | single nucleotide variant | NM_001349338.3(FOXP1):c.1567T>C (p.Phe523Leu) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004771611] | likely pathogenic | 3 | 70972640 | 70972640 | Human | 1 | name |
| 596928887 | CV3540600 | single nucleotide variant | NM_001349338.3(FOXP1):c.1490G>C (p.Arg497Pro) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV005249717]|not provided [RCV004794928] | likely pathogenic | 3 | 70976981 | 70976981 | Human | 1 | name |
| 596928464 | CV3541500 | single nucleotide variant | NM_001349338.3(FOXP1):c.1601G>A (p.Trp534Ter) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004797372] | likely pathogenic | 3 | 70972606 | 70972606 | Human | 1 | name |
| 596925391 | CV3542061 | single nucleotide variant | NM_001349338.3(FOXP1):c.1595C>T (p.Ala532Val) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004795777] | likely pathogenic | 3 | 70972612 | 70972612 | Human | 1 | name |
| 596943262 | CV3542855 | single nucleotide variant | NM_001349338.3(FOXP1):c.1340T>C (p.Ile447Thr) | not provided [RCV004798439] | uncertain significance | 3 | 70977836 | 70977836 | Human | | name |
| 12741700 | CV360857 | single nucleotide variant | NM_001349338.3(FOXP1):c.1396C>G (p.Pro466Ala) | Anterior creases of earlobe [RCV000414948] | likely pathogenic | 3 | 70977675 | 70977675 | Human | 4 | name |
| 597669541 | CV3669803 | single nucleotide variant | NM_001349338.3(FOXP1):c.1255C>T (p.Gln419Ter) | Inborn genetic diseases [RCV004980076] | pathogenic | 3 | 70977921 | 70977921 | Human | 1 | name |
| 12849953 | CV367721 | single nucleotide variant | NM_001349338.3(FOXP1):c.1489C>T (p.Arg497Ter) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001265469]|not provided [RCV000439016] | pathogenic | 3 | 70976982 | 70976982 | Human | 1 | name |
| 12849429 | CV367724 | single nucleotide variant | NM_001349338.3(FOXP1):c.1506C>G (p.Phe502Leu) | Inborn genetic diseases [RCV003352866]|Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002289577]|not provided [RCV000429800] | pathogenic|likely pathogenic | 3 | 70976965 | 70976965 | Human | 2 | name |
| 597927554 | CV3749027 | single nucleotide variant | NM_001349338.3(FOXP1):c.1729A>G (p.Met577Val) | not provided [RCV005075483] | uncertain significance | 3 | 70966050 | 70966050 | Human | | name |
| 597841993 | CV3752930 | single nucleotide variant | NM_001349338.3(FOXP1):c.1066G>A (p.Ala356Thr) | not provided [RCV005086659] | uncertain significance | 3 | 70988074 | 70988074 | Human | | name |
| 597846579 | CV3753094 | single nucleotide variant | NM_001349338.3(FOXP1):c.1292C>T (p.Thr431Met) | not provided [RCV005087319] | uncertain significance | 3 | 70977884 | 70977884 | Human | | name |
| 597907026 | CV3781420 | single nucleotide variant | NM_001349338.3(FOXP1):c.1532A>G (p.Asn511Ser) | not provided [RCV005128108] | uncertain significance | 3 | 70972675 | 70972675 | Human | | name |
| 597907075 | CV3781426 | single nucleotide variant | NM_001349338.3(FOXP1):c.1988A>G (p.His663Arg) | not provided [RCV005128114] | uncertain significance | 3 | 70959293 | 70959293 | Human | | name |
| 597897230 | CV3782261 | single nucleotide variant | NM_001349338.3(FOXP1):c.1247C>T (p.Pro416Leu) | not provided [RCV005126486] | uncertain significance | 3 | 70977929 | 70977929 | Human | | name |
| 597906419 | CV3785178 | single nucleotide variant | NM_001349338.3(FOXP1):c.1070A>T (p.Lys357Ile) | not provided [RCV005128021] | uncertain significance | 3 | 70988070 | 70988070 | Human | | name |
| 597969868 | CV3791742 | single nucleotide variant | NM_001349338.3(FOXP1):c.1569T>G (p.Phe523Leu) | not provided [RCV005141559] | uncertain significance | 3 | 70972638 | 70972638 | Human | | name |
| 597902247 | CV3792732 | single nucleotide variant | NM_001349338.3(FOXP1):c.1187C>T (p.Ser396Leu) | not provided [RCV005152884] | uncertain significance | 3 | 70977989 | 70977989 | Human | | name |
| 597954386 | CV3795771 | single nucleotide variant | NM_001349338.3(FOXP1):c.1078G>A (p.Glu360Lys) | not provided [RCV005136781] | uncertain significance | 3 | 70988062 | 70988062 | Human | | name |
| 597975680 | CV3799290 | single nucleotide variant | NM_001349338.3(FOXP1):c.1547A>G (p.Asn516Ser) | not provided [RCV005144686] | uncertain significance | 3 | 70972660 | 70972660 | Human | | name |
| 597898666 | CV3806983 | single nucleotide variant | NM_001349338.3(FOXP1):c.1357G>A (p.Ala453Thr) | not provided [RCV005152370] | uncertain significance | 3 | 70977714 | 70977714 | Human | | name |
| 597899905 | CV3835267 | single nucleotide variant | NM_001349338.3(FOXP1):c.1585G>A (p.Val529Ile) | not provided [RCV005180987] | uncertain significance | 3 | 70972622 | 70972622 | Human | | name |
| 597929814 | CV3862257 | single nucleotide variant | NM_001349338.3(FOXP1):c.2017A>G (p.Asn673Asp) | not provided [RCV005206498] | uncertain significance | 3 | 70959264 | 70959264 | Human | | name |
| 598124556 | CV3883589 | single nucleotide variant | NM_001349338.3(FOXP1):c.1164T>G (p.Ser388Arg) | not provided [RCV005235943] | uncertain significance | 3 | 70978012 | 70978012 | Human | | name |
| 598127312 | CV3888124 | single nucleotide variant | NM_001349338.3(FOXP1):c.1895C>T (p.Pro632Leu) | not provided [RCV005242810] | uncertain significance | 3 | 70959386 | 70959386 | Human | | name |
| 598176785 | CV3891117 | single nucleotide variant | NM_001349338.3(FOXP1):c.1481G>A (p.Trp494Ter) | not provided [RCV005251970] | pathogenic | 3 | 70976990 | 70976990 | Human | | name |
| 598238577 | CV3893317 | single nucleotide variant | NM_001349338.3(FOXP1):c.1169C>T (p.Thr390Ile) | not provided [RCV005256050] | uncertain significance | 3 | 70978007 | 70978007 | Human | | name |
| 598159518 | CV3897105 | single nucleotide variant | NM_001349338.3(FOXP1):c.1478A>T (p.Asn493Ile) | not provided [RCV005368079] | uncertain significance | 3 | 70976993 | 70976993 | Human | | name |
| 598217614 | CV3970009 | single nucleotide variant | NM_001349338.3(FOXP1):c.1322A>C (p.Asp441Ala) | Inborn genetic diseases [RCV005340041] | uncertain significance | 3 | 70977854 | 70977854 | Human | 1 | name |
| 616935264 | CV4009420 | single nucleotide variant | NM_001349338.3(FOXP1):c.1621T>A (p.Phe541Ile) | not provided [RCV005402592] | uncertain significance | 3 | 70972586 | 70972586 | Human | | name |
| 616935298 | CV4009438 | single nucleotide variant | NM_001349338.3(FOXP1):c.1801G>C (p.Ala601Pro) | not provided [RCV005402610] | uncertain significance | 3 | 70965978 | 70965978 | Human | | name |
| 616938637 | CV4013242 | single nucleotide variant | NM_001349338.3(FOXP1):c.1432A>G (p.Ile478Val) | not provided [RCV005410709] | uncertain significance | 3 | 70977039 | 70977039 | Human | | name |
| 617153369 | CV4018559 | single nucleotide variant | NM_001349338.3(FOXP1):c.1423A>T (p.Arg475Trp) | not specified [RCV005418821] | uncertain significance | 3 | 70977648 | 70977648 | Human | | name |
| 617154158 | CV4022368 | single nucleotide variant | NM_001349338.3(FOXP1):c.1573C>G (p.Arg525Gly) | not provided [RCV005429725] | likely pathogenic | 3 | 70972634 | 70972634 | Human | | name |
| 12893835 | CV406362 | single nucleotide variant | NM_001349338.3(FOXP1):c.1064T>C (p.Leu355Pro) | not provided [RCV000480408] | likely pathogenic | 3 | 70988076 | 70988076 | Human | | name |
| 13215145 | CV428213 | single nucleotide variant | NM_001349338.3(FOXP1):c.1405A>G (p.Thr469Ala) | not specified [RCV000502085] | uncertain significance | 3 | 70977666 | 70977666 | Human | | name |
| 13509106 | CV481703 | single nucleotide variant | NM_001349338.3(FOXP1):c.1177A>T (p.Lys393Ter) | not provided [RCV000578980] | pathogenic|likely pathogenic | 3 | 70977999 | 70977999 | Human | | name |
| 13706315 | CV537428 | single nucleotide variant | NM_001349338.3(FOXP1):c.1675A>T (p.Met559Leu) | not provided [RCV000658966] | uncertain significance | 3 | 70970783 | 70970783 | Human | | name |
| 13796253 | CV551770 | single nucleotide variant | NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000678982] | conflicting interpretations of pathogenicity|uncertain significance | 3 | 70972639 | 70972639 | Human | 1 | name |
| 13797967 | CV553167 | single nucleotide variant | NM_001349338.3(FOXP1):c.1888G>T (p.Val630Leu) | Intellectual disability [RCV000681491]|not provided [RCV005091993] | likely benign|uncertain significance | 3 | 70965891 | 70965891 | Human | 2 | name |
| 13797973 | CV553169 | single nucleotide variant | NM_001349338.3(FOXP1):c.1183G>A (p.Ala395Thr) | Intellectual disability [RCV000681495]|not provided [RCV002531422] | benign|likely benign|uncertain significance | 3 | 70977993 | 70977993 | Human | 2 | name |
| 13829320 | CV578997 | single nucleotide variant | NM_001349338.3(FOXP1):c.1825G>A (p.Ala609Thr) | Inborn genetic diseases [RCV002313612]|not provided [RCV000894751] | benign|likely benign | 3 | 70965954 | 70965954 | Human | 1 | name |
| 13829494 | CV579064 | single nucleotide variant | NM_001349338.3(FOXP1):c.1936G>A (p.Glu646Lys) | Inborn genetic diseases [RCV002315346] | uncertain significance | 3 | 70959345 | 70959345 | Human | 1 | name |
| 14396162 | CV611596 | single nucleotide variant | NM_001349338.3(FOXP1):c.1476T>A (p.Tyr492Ter) | not provided [RCV000760898] | pathogenic | 3 | 70976995 | 70976995 | Human | | name |
| 14399329 | CV614601 | single nucleotide variant | NM_001349338.3(FOXP1):c.1630C>T (p.Arg544Ter) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000768446]|Rare genetic intellectual disability [RCV001257017]|Seizure [RCV000851514] | pathogenic|likely pathogenic | 3 | 70972577 | 70972577 | Human | 5 | name |
| 14979429 | CV678938 | single nucleotide variant | NM_001349338.3(FOXP1):c.1000G>C (p.Asp334His) | Intellectual disability [RCV000851506] | likely pathogenic | 3 | 71001034 | 71001034 | Human | 2 | name |
| 8572508 | CV70500 | single nucleotide variant | NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) | FOXP1-related disorder [RCV003934994]|Familial atrioventricular septal defect [RCV000049263]|Hypoplastic left heart syndrome 1 [RCV000049262]|Inborn genetic diseases [RCV002311531]|not provided [RCV000437146]|not specified [RCV000175486] | association|benign|likely benign | 3 | 70970756 | 70970756 | Human | 9 | name , alternate_id |
| 15157509 | CV748513 | single nucleotide variant | NM_001349338.3(FOXP1):c.1333G>A (p.Val445Met) | FOXP1-related disorder [RCV003913120]|not provided [RCV000924875] | benign|likely benign | 3 | 70977843 | 70977843 | Human | 1 | name , alternate_id |
| 21071211 | CV790416 | single nucleotide variant | NM_001349338.3(FOXP1):c.1798A>G (p.Ser600Gly) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000987286] | uncertain significance | 3 | 70965981 | 70965981 | Human | 1 | name |
| 21071212 | CV790417 | single nucleotide variant | NM_001349338.3(FOXP1):c.1550T>G (p.Leu517Arg) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000987287] | likely pathogenic | 3 | 70972657 | 70972657 | Human | 1 | name |
| 21068599 | CV795471 | single nucleotide variant | NM_001349338.3(FOXP1):c.1471A>T (p.Ile491Phe) | not provided [RCV000998102] | uncertain significance | 3 | 70977000 | 70977000 | Human | | name |
| 28877631 | CV861564 | single nucleotide variant | NM_001349338.3(FOXP1):c.1409A>T (p.Tyr470Phe) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001095670] | pathogenic | 3 | 70977662 | 70977662 | Human | 1 | name |
| 34890425 | CV904285 | single nucleotide variant | NM_001349338.3(FOXP1):c.1406C>T (p.Thr469Ile) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002464401]|not provided [RCV001171584] | likely pathogenic | 3 | 70977665 | 70977665 | Human | 1 | name |
| 38475886 | CV923355 | single nucleotide variant | NM_001349338.3(FOXP1):c.1096A>G (p.Met366Val) | not provided [RCV001215414] | likely pathogenic | 3 | 70988044 | 70988044 | Human | | name |
| 38597692 | CV964226 | single nucleotide variant | NM_001349338.3(FOXP1):c.1541G>C (p.Arg514Pro) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001253006] | likely pathogenic | 3 | 70972666 | 70972666 | Human | 1 | name |
| 38597808 | CV964227 | single nucleotide variant | NM_001349338.3(FOXP1):c.1475A>G (p.Tyr492Cys) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001253157]|not provided [RCV004778031] | likely pathogenic|uncertain significance | 3 | 70976996 | 70976996 | Human | 1 | name |
| 40814713 | CV970778 | single nucleotide variant | NM_001349338.3(FOXP1):c.1747C>T (p.Pro583Ser) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001262227]|not provided [RCV005094251] | uncertain significance | 3 | 70966032 | 70966032 | Human | 1 | name |
| 40886371 | CV972714 | single nucleotide variant | NM_001349338.3(FOXP1):c.1544A>G (p.His515Arg) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV001264731] | likely pathogenic | 3 | 70972663 | 70972663 | Human | 1 | name |
| 40887487 | CV973383 | single nucleotide variant | NM_001349338.3(FOXP1):c.1732G>A (p.Ala578Thr) | Inborn genetic diseases [RCV001267110] | uncertain significance | 3 | 70966047 | 70966047 | Human | 1 | name |
| 40887580 | CV973384 | single nucleotide variant | NM_001349338.3(FOXP1):c.1631G>A (p.Arg544Gln) | Inborn genetic diseases [RCV001267197]|not provided [RCV002274174] | uncertain significance | 3 | 70972576 | 70972576 | Human | 1 | name |
| 40887361 | CV973387 | single nucleotide variant | NM_001349338.3(FOXP1):c.1495T>C (p.Phe499Leu) | Inborn genetic diseases [RCV001266905] | uncertain significance | 3 | 70976976 | 70976976 | Human | 1 | name |
| 40889062 | CV975111 | single nucleotide variant | NM_001349338.3(FOXP1):c.1319C>G (p.Ser440Ter) | not provided [RCV001267903] | pathogenic | 3 | 70977857 | 70977857 | Human | | name |
| 13517274 | CV489120 | single nucleotide variant | NM_001349338.3(FOXP1):c.1762G>A (p.Ala588Thr) | FOXP1-related disorder [RCV003952947]|Inborn genetic diseases [RCV002315886]|not provided [RCV000906266]|not specified [RCV000596426] | benign|likely benign|uncertain significance | 3 | 70966017 | 70966017 | Human | 2 | alternate_id |
| 153349220 | CV1694077 | duplication | NM_001349338.3(FOXP1):c.-298+4925_-298+4928dup | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV002275612] | uncertain significance | 3 | 71576620 | 71576621 | Human | 1 | name |
| 11658719 | CV296053 | indel | NM_001349338.3(FOXP1):c.*3415delinsTGTGTGTGTGT | Intellectual Disability with Language Impairment and Autistic Features [RCV000351471] | uncertain significance | 3 | 70955832 | 70955832 | Human | | name |
| 150491859 | CV1210434 | insertion | NM_001349338.3(FOXP1):c.181-18423_181-18422insC | not provided [RCV001592716] | likely benign | 3 | 71131059 | 71131060 | Human | | name |
| 402509348 | CV2938525 | insertion | NM_001349338.3(FOXP1):c.283-3_283-2insGGCTTCCTATTTATCCTTCATTAACATTCTG | not provided [RCV003662413] | uncertain significance | 3 | 71053775 | 71053776 | Human | | name |
| 13522808 | CV493973 | single nucleotide variant | NM_001349338.3(FOXP1):c.1329C>A (p.Tyr443Ter) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV004594083]|not provided [RCV000592209] | pathogenic | 3 | 70977847 | 70977847 | Human | 1 | name |
| 13784028 | CV550596 | single nucleotide variant | NM_001349338.3(FOXP1):c.1394G>C (p.Arg465Thr) | Intellectual disability-severe speech delay-mild dysmorphism syndrome [RCV000677699] | pathogenic | 3 | 70977677 | 70977677 | Human | 1 | name |