| 11616675 | CV329227 | single nucleotide variant | NM_001321120.2(TBX4):c.*7C>T | Coxopodopatellar syndrome [RCV000296936]|TBX4-related disorder [RCV004549717]|not provided [RCV004709715] | benign|likely benign | 17 | 61483523 | 61483523 | Human | 1 | name , trait , alternate_id |
| 28900765 | CV878002 | single nucleotide variant | NM_001321120.2(TBX4):c.*8G>A | Coxopodopatellar syndrome [RCV001124489] | benign | 17 | 61483524 | 61483524 | Human | 1 | name |
| 11622117 | CV339433 | single nucleotide variant | NM_001321120.2(TBX4):c.*25G>A | Coxopodopatellar syndrome [RCV000356397]|not provided [RCV004709716] | benign|likely benign | 17 | 61483541 | 61483541 | Human | 1 | name |
| 11626949 | CV345235 | single nucleotide variant | NM_001321120.2(TBX4):c.*99T>A | Coxopodopatellar syndrome [RCV000273118] | benign|likely benign | 17 | 61483615 | 61483615 | Human | 1 | name |
| 11616210 | CV329228 | single nucleotide variant | NM_001321120.2(TBX4):c.*138A>G | Coxopodopatellar syndrome [RCV000292848]|not provided [RCV001690074] | benign | 17 | 61483654 | 61483654 | Human | 1 | name |
| 11648305 | CV329229 | single nucleotide variant | NM_001321120.2(TBX4):c.*661G>A | Coxopodopatellar syndrome [RCV000281258] | uncertain significance | 17 | 61484177 | 61484177 | Human | 1 | name |
| 11620760 | CV329230 | single nucleotide variant | NM_001321120.2(TBX4):c.*707G>T | Coxopodopatellar syndrome [RCV000340879]|not provided [RCV004709718] | benign | 17 | 61484223 | 61484223 | Human | 1 | name |
| 11656447 | CV339446 | single nucleotide variant | NM_001321120.2(TBX4):c.*252G>C | Coxopodopatellar syndrome [RCV000333776] | uncertain significance | 17 | 61483768 | 61483768 | Human | 1 | name |
| 11656666 | CV339454 | single nucleotide variant | NM_001321120.2(TBX4):c.*383G>T | Coxopodopatellar syndrome [RCV000335097] | uncertain significance | 17 | 61483899 | 61483899 | Human | 1 | name |
| 11661353 | CV339456 | single nucleotide variant | NM_001321120.2(TBX4):c.*627T>C | Coxopodopatellar syndrome [RCV000375727] | uncertain significance | 17 | 61484143 | 61484143 | Human | 1 | name |
| 11625397 | CV339459 | single nucleotide variant | NM_001321120.2(TBX4):c.*722C>A | Coxopodopatellar syndrome [RCV000398413] | benign|likely benign | 17 | 61484238 | 61484238 | Human | 1 | name |
| 11631770 | CV345245 | single nucleotide variant | NM_001321120.2(TBX4):c.*313A>C | Coxopodopatellar syndrome [RCV000388254] | likely benign | 17 | 61483829 | 61483829 | Human | 1 | name |
| 11627341 | CV345251 | single nucleotide variant | NM_001321120.2(TBX4):c.*327G>A | Coxopodopatellar syndrome [RCV000279851]|not provided [RCV004709717] | benign | 17 | 61483843 | 61483843 | Human | 1 | name |
| 11628597 | CV345259 | single nucleotide variant | NM_001321120.2(TBX4):c.*766A>C | Coxopodopatellar syndrome [RCV000305444] | benign|likely benign | 17 | 61484282 | 61484282 | Human | 1 | name |
| 28903117 | CV878003 | single nucleotide variant | NM_001321120.2(TBX4):c.*409G>A | Coxopodopatellar syndrome [RCV001125492] | uncertain significance | 17 | 61483925 | 61483925 | Human | 1 | name |
| 28903119 | CV878004 | single nucleotide variant | NM_001321120.2(TBX4):c.*428G>A | Coxopodopatellar syndrome [RCV001125493] | uncertain significance | 17 | 61483944 | 61483944 | Human | 1 | name |
| 28903120 | CV878005 | single nucleotide variant | NM_001321120.2(TBX4):c.*607G>T | Coxopodopatellar syndrome [RCV001125494] | uncertain significance | 17 | 61484123 | 61484123 | Human | 1 | name |
| 28907455 | CV878006 | single nucleotide variant | NM_001321120.2(TBX4):c.*759A>G | Coxopodopatellar syndrome [RCV001127599] | benign | 17 | 61484275 | 61484275 | Human | 1 | name |
| 150404468 | CV1178842 | single nucleotide variant | NM_001321120.2(TBX4):c.401+3A>T | Coxopodopatellar syndrome [RCV001548763] | uncertain significance | 17 | 61465941 | 61465941 | Human | 1 | name |
| 11544757 | CV256296 | single nucleotide variant | NM_001321120.2(TBX4):c.402-8G>A | Autosomal recessive amelia [RCV001815269]|Coxopodopatellar syndrome [RCV000393613]|not provided [RCV001668560]|not specified [RCV000244217] | benign | 17 | 61467502 | 61467502 | Human | 2 | name |
| 402512222 | CV2859048 | single nucleotide variant | NM_001321120.2(TBX4):c.187-4C>T | not provided [RCV003547118] | likely benign | 17 | 61457533 | 61457533 | Human | | name |
| 405291175 | CV3222138 | single nucleotide variant | NM_001321120.2(TBX4):c.549+1G>A | Coxopodopatellar syndrome [RCV003984957] | pathogenic | 17 | 61467658 | 61467658 | Human | 1 | name |
| 11630709 | CV345224 | single nucleotide variant | NM_001321120.2(TBX4):c.703-8C>T | Coxopodopatellar syndrome [RCV000356665]|not provided [RCV000883458] | benign|likely benign | 17 | 61479873 | 61479873 | Human | 1 | name |
| 597848285 | CV3786852 | single nucleotide variant | NM_001321120.2(TBX4):c.186+1G>T | not provided [RCV005123928] | likely pathogenic | 17 | 61456677 | 61456677 | Human | | name |
| 597831788 | CV3863931 | single nucleotide variant | NM_001321120.2(TBX4):c.402-3C>G | Coxopodopatellar syndrome [RCV005208345] | uncertain significance | 17 | 61467507 | 61467507 | Human | 1 | name |
| 13477671 | CV445847 | single nucleotide variant | NM_001321120.2(TBX4):c.281+1G>A | not provided [RCV000520461] | pathogenic | 17 | 61457632 | 61457632 | Human | | name |
| 13704074 | CV538468 | single nucleotide variant | NM_001321120.2(TBX4):c.702+1G>A | Pulmonary arterial hypertension associated with congenital heart disease [RCV000664178]|Pulmonary hypertension, primary, 1 [RCV001829824]|TBX4-related disorder [RCV004547833]|not provided [RCV000660521] | pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records | 17 | 61478780 | 61478780 | Human | 3 | name , trait , alternate_id |
| 15163660 | CV760585 | single nucleotide variant | NM_001321120.2(TBX4):c.792-8C>A | not provided [RCV000926183] | likely benign | 17 | 61480082 | 61480082 | Human | | name |
| 15174447 | CV789312 | single nucleotide variant | NM_001321120.2(TBX4):c.792-1G>C | Coxopodopatellar syndrome [RCV000984863]|Pulmonary hypertension, primary, 1 [RCV001827124] | pathogenic|likely pathogenic | 17 | 61480089 | 61480089 | Human | 2 | name |
| 21074876 | CV798719 | single nucleotide variant | NM_001321120.2(TBX4):c.281+1G>T | Coxopodopatellar syndrome [RCV000995662] | pathogenic | 17 | 61457632 | 61457632 | Human | 1 | name |
| 150474355 | CV1234437 | single nucleotide variant | NM_001321120.2(TBX4):c.792-18T>C | not provided [RCV001651757] | benign | 17 | 61480072 | 61480072 | Human | | name |
| 150499625 | CV1235760 | microsatellite | NM_001321120.2(TBX4):c.*98GT[22] | not provided [RCV001656443] | benign | 17 | 61483613 | 61483614 | Human | | name |
| 150465125 | CV1241437 | single nucleotide variant | NM_001321120.2(TBX4):c.402-96C>T | not provided [RCV001649948] | benign | 17 | 61467414 | 61467414 | Human | | name |
| 150458971 | CV1248379 | single nucleotide variant | NM_001321120.2(TBX4):c.402-61G>A | not provided [RCV001669200] | benign | 17 | 61467449 | 61467449 | Human | | name |
| 150443343 | CV1277845 | single nucleotide variant | NM_001321120.2(TBX4):c.282-90T>C | not provided [RCV001706988] | benign | 17 | 61465729 | 61465729 | Human | | name |
| 151233480 | CV1317834 | single nucleotide variant | NM_001321120.2(TBX4):c.1021+1G>A | Pulmonary hypertension, primary, 1 [RCV001827592]|not provided [RCV001787601] | pathogenic|likely pathogenic | 17 | 61480320 | 61480320 | Human | 1 | name |
| 151664497 | CV1332672 | single nucleotide variant | NM_001321120.2(TBX4):c.-3-581G>A | Pulmonary hypertension, primary, 1 [RCV001829380] | not provided | 17 | 61455907 | 61455907 | Human | | name |
| 152135229 | CV1528267 | single nucleotide variant | NM_001321120.2(TBX4):c.186+16C>T | not provided [RCV002100026] | benign | 17 | 61456692 | 61456692 | Human | | name |
| 401914479 | CV2808107 | single nucleotide variant | NM_001321120.2(TBX4):c.-3-583T>C | not provided [RCV003428360] | likely benign | 17 | 61455905 | 61455905 | Human | | name |
| 405140566 | CV3125828 | single nucleotide variant | NM_001321120.2(TBX4):c.549+12G>T | not provided [RCV003816743] | likely benign | 17 | 61467669 | 61467669 | Human | | name |
| 405218380 | CV3135703 | single nucleotide variant | NM_001321120.2(TBX4):c.401+17C>T | not provided [RCV003824328] | likely benign | 17 | 61465955 | 61465955 | Human | | name |
| 405287149 | CV3205575 | single nucleotide variant | NM_001321120.2(TBX4):c.-3-587C>G | TBX4-related disorder [RCV004554372] | likely benign | 17 | 61455901 | 61455901 | Human | | name , trait , alternate_id |
| 11621143 | CV339415 | single nucleotide variant | NM_001321120.2(TBX4):c.187-15C>T | Coxopodopatellar syndrome [RCV000344769]|not provided [RCV004709714] | benign|likely benign | 17 | 61457522 | 61457522 | Human | 1 | name |
| 11618729 | CV339421 | single nucleotide variant | NM_001321120.2(TBX4):c.791+11G>A | Coxopodopatellar syndrome [RCV000317187] | benign|uncertain significance | 17 | 61479980 | 61479980 | Human | 1 | name |
| 11635269 | CV339434 | microsatellite | NM_001321120.2(TBX4):c.*98GT[27] | Coxopodopatellar syndrome [RCV000327166]|not provided [RCV001636914] | benign|uncertain significance | 17 | 61483613 | 61483614 | Human | | name |
| 11617280 | CV339436 | microsatellite | NM_001321120.2(TBX4):c.*98GT[24] | Coxopodopatellar syndrome [RCV000302661]|not provided [RCV001683305] | benign|uncertain significance | 17 | 61483613 | 61483614 | Human | | name |
| 11635827 | CV339437 | microsatellite | NM_001321120.2(TBX4):c.*98GT[21] | Coxopodopatellar syndrome [RCV000400825]|not provided [RCV001690073] | benign | 17 | 61483613 | 61483614 | Human | | name |
| 11635554 | CV345241 | microsatellite | NM_001321120.2(TBX4):c.*98GT[25] | Coxopodopatellar syndrome [RCV000362091]|not provided [RCV001534565] | benign|uncertain significance | 17 | 61483613 | 61483614 | Human | | name |
| 11659968 | CV345242 | microsatellite | NM_001321120.2(TBX4):c.*98GT[18] | Coxopodopatellar syndrome [RCV000363023]|not provided [RCV004694342] | uncertain significance | 17 | 61483614 | 61483617 | Human | | name |
| 11662568 | CV345244 | microsatellite | NM_001321120.2(TBX4):c.*137TA[1] | Coxopodopatellar syndrome [RCV000387407] | uncertain significance | 17 | 61483653 | 61483654 | Human | | name |
| 11634647 | CV346649 | microsatellite | NM_001321120.2(TBX4):c.*98GT[26] | Coxopodopatellar syndrome [RCV000267442]|not provided [RCV001534539] | benign|uncertain significance | 17 | 61483613 | 61483614 | Human | | name |
| 597919559 | CV3737973 | single nucleotide variant | NM_001321120.2(TBX4):c.792-17C>A | not provided [RCV005074572] | likely benign | 17 | 61480073 | 61480073 | Human | | name |
| 28907282 | CV880559 | single nucleotide variant | NM_001321120.2(TBX4):c.791+11G>T | Coxopodopatellar syndrome [RCV001127487]|not provided [RCV003769222] | likely benign|uncertain significance | 17 | 61479980 | 61479980 | Human | 1 | name |
| 150464262 | CV1214909 | single nucleotide variant | NM_001321120.2(TBX4):c.401+215G>C | not provided [RCV001613906] | benign | 17 | 61466153 | 61466153 | Human | | name |
| 150459158 | CV1236055 | single nucleotide variant | NM_001321120.2(TBX4):c.702+147C>T | not provided [RCV001649026] | benign | 17 | 61478926 | 61478926 | Human | | name |
| 150474603 | CV1251302 | single nucleotide variant | NM_001321120.2(TBX4):c.402-155C>T | not provided [RCV001671796] | benign | 17 | 61467355 | 61467355 | Human | | name |
| 150500293 | CV1256071 | single nucleotide variant | NM_001321120.2(TBX4):c.401+223G>A | not provided [RCV001676694] | benign | 17 | 61466161 | 61466161 | Human | | name |
| 150452756 | CV1276767 | single nucleotide variant | NM_001321120.2(TBX4):c.702+201C>T | not provided [RCV001708557] | benign | 17 | 61478980 | 61478980 | Human | | name |
| 150505122 | CV1255389 | single nucleotide variant | NM_001321120.2(TBX4):c.1021+212C>G | not provided [RCV001677836] | benign | 17 | 61480531 | 61480531 | Human | | name |
| 11655747 | CV339444 | deletion | NM_001321120.2(TBX4):c.*136_*139del | Coxopodopatellar syndrome [RCV000328214] | uncertain significance | 17 | 61483651 | 61483654 | Human | 1 | name |
| 11631386 | CV345222 | single nucleotide variant | NM_001321120.2(TBX4):c.24C>T (p.Ser8=) | Coxopodopatellar syndrome [RCV000376475]|TBX4-related disorder [RCV004549714] | benign|likely benign|uncertain significance | 17 | 61456514 | 61456514 | Human | 1 | name , trait , alternate_id |
| 152982551 | CV1677480 | single nucleotide variant | NM_001321120.2(TBX4):c.3G>A (p.Met1Ile) | Coxopodopatellar syndrome [RCV002249189] | likely pathogenic | 17 | 61456493 | 61456493 | Human | 1 | name |
| 401895637 | CV2771267 | single nucleotide variant | NM_001321120.2(TBX4):c.23C>T (p.Ser8Phe) | Inborn genetic diseases [RCV003373262] | uncertain significance | 17 | 61456513 | 61456513 | Human | 1 | name |
| 11620917 | CV339409 | single nucleotide variant | NM_001321120.2(TBX4):c.17G>C (p.Gly6Ala) | Coxopodopatellar syndrome [RCV000342728]|not provided [RCV001613043] | benign | 17 | 61456507 | 61456507 | Human | 5 | name |
| 11620917 | CV339409 | single nucleotide variant | NM_001321120.2(TBX4):c.17G>C (p.Gly6Ala) | Coxopodopatellar syndrome [RCV000342728]|not provided [RCV001613043] | benign | 17 | 61456507 | 61456508 | Human | 5 | name |
| 11627591 | CV346630 | single nucleotide variant | NM_001321120.2(TBX4):c.16G>A (p.Gly6Ser) | Coxopodopatellar syndrome [RCV000285413]|TBX4-related disorder [RCV004549713]|not provided [RCV000969924] | benign|likely benign | 17 | 61456506 | 61456506 | Human | 1 | name , trait , alternate_id |
| 11658064 | CV346633 | single nucleotide variant | NM_001321120.2(TBX4):c.108G>T (p.Ala36=) | Coxopodopatellar syndrome [RCV000346338] | uncertain significance | 17 | 61456598 | 61456598 | Human | 1 | name |
| 11632259 | CV346634 | single nucleotide variant | NM_001321120.2(TBX4):c.249G>A (p.Ala83=) | Coxopodopatellar syndrome [RCV000402371]|not provided [RCV000959772] | benign|likely benign | 17 | 61457599 | 61457599 | Human | 1 | name |
| 11629068 | CV346635 | single nucleotide variant | NM_001321120.2(TBX4):c.276T>G (p.Ala92=) | Coxopodopatellar syndrome [RCV000314981]|not provided [RCV001675821]|not specified [RCV000455356] | benign | 17 | 61457626 | 61457626 | Human | 1 | name |
| 597839281 | CV3758361 | single nucleotide variant | NM_001321120.2(TBX4):c.138C>T (p.Ser46=) | not provided [RCV005086196] | likely benign | 17 | 61456628 | 61456628 | Human | | name |
| 15183609 | CV727327 | single nucleotide variant | NM_001321120.2(TBX4):c.159C>T (p.Asp53=) | not provided [RCV000886263] | benign|likely benign | 17 | 61456649 | 61456649 | Human | | name |
| 15187892 | CV771684 | single nucleotide variant | NM_001321120.2(TBX4):c.240C>T (p.Phe80=) | not provided [RCV000931792] | likely benign | 17 | 61457590 | 61457590 | Human | | name |
| 8628045 | CV83189 | single nucleotide variant | NM_018488.2(TBX4):c.985G>A (p.Asp329Asn) | Malignant melanoma [RCV000063269] | not provided | 17 | 61480283 | 61480283 | Human | | name |
| 28900517 | CV877993 | single nucleotide variant | NM_001321120.2(TBX4):c.150C>T (p.Pro50=) | Coxopodopatellar syndrome [RCV001124399] | uncertain significance | 17 | 61456640 | 61456640 | Human | 1 | name |
| 150335285 | CV1166255 | single nucleotide variant | NM_001321120.2(TBX4):c.804C>T (p.Pro268=) | not provided [RCV003556493] | likely benign | 17 | 61480102 | 61480102 | Human | | name |
| 150484702 | CV1250078 | deletion | NM_001321120.2(TBX4):c.282-102_282-100del | not provided [RCV001673691] | benign | 17 | 61465717 | 61465719 | Human | | name |
| 151664447 | CV1332622 | deletion | NM_001321120.2(TBX4):c.150del (p.Ala52fs) | Pulmonary hypertension, primary, 1 [RCV001829330] | likely pathogenic | 17 | 61456638 | 61456638 | Human | 1 | name |
| 151664450 | CV1332625 | duplication | NM_001321120.2(TBX4):c.113dup (p.Leu39fs) | Coxopodopatellar syndrome [RCV001829333] | not provided | 17 | 61456600 | 61456601 | Human | | name |
| 151664456 | CV1332631 | single nucleotide variant | NM_001321120.2(TBX4):c.64G>T (p.Gly22Ter) | Pulmonary hypertension, primary, 1 [RCV001829339]|not provided [RCV003718447] | pathogenic|not provided | 17 | 61456554 | 61456554 | Human | 1 | name |
| 151664467 | CV1332642 | deletion | NM_001321120.2(TBX4):c.146del (p.Gly49fs) | Pulmonary hypertension, primary, 1 [RCV001829350] | likely pathogenic | 17 | 61456634 | 61456634 | Human | 1 | name |
| 151664472 | CV1332647 | duplication | NM_001321120.2(TBX4):c.210dup (p.Leu71fs) | Pulmonary hypertension, primary, 1 [RCV001829355]|not provided [RCV002542785] | pathogenic|likely pathogenic | 17 | 61457556 | 61457557 | Human | 1 | name |
| 151664488 | CV1332663 | duplication | NM_001321120.2(TBX4):c.143dup (p.Pro50fs) | Pulmonary hypertension, primary, 1 [RCV001829371] | not provided | 17 | 61456627 | 61456628 | Human | | name |
| 152114522 | CV1612476 | single nucleotide variant | NM_001321120.2(TBX4):c.525C>T (p.Asn175=) | not provided [RCV002174753] | likely benign | 17 | 61467633 | 61467633 | Human | | name |
| 155933405 | CV1919873 | single nucleotide variant | NM_001321120.2(TBX4):c.612C>T (p.Asn204=) | not provided [RCV002615133] | likely benign | 17 | 61478689 | 61478689 | Human | | name |
| 156435579 | CV1940828 | single nucleotide variant | NM_001321120.2(TBX4):c.71C>T (p.Ala24Val) | not provided [RCV003104931] | benign | 17 | 61456561 | 61456561 | Human | | name |
| 156285686 | CV2327159 | single nucleotide variant | NM_001321120.2(TBX4):c.97G>T (p.Ala33Ser) | Inborn genetic diseases [RCV002935230] | uncertain significance | 17 | 61456587 | 61456587 | Human | 1 | name |
| 401914101 | CV2830555 | single nucleotide variant | NM_001321120.2(TBX4):c.94C>G (p.Pro32Ala) | not provided [RCV003442293] | uncertain significance | 17 | 61456584 | 61456584 | Human | | name |
| 405160577 | CV2955142 | single nucleotide variant | NM_001321120.2(TBX4):c.91G>A (p.Glu31Lys) | not provided [RCV003670699] | uncertain significance | 17 | 61456581 | 61456581 | Human | | name |
| 405228289 | CV3065758 | single nucleotide variant | NM_001321120.2(TBX4):c.34G>A (p.Glu12Lys) | not provided [RCV003734442] | uncertain significance | 17 | 61456524 | 61456524 | Human | | name |
| 405216731 | CV3160878 | single nucleotide variant | NM_001321120.2(TBX4):c.456G>T (p.Pro152=) | not provided [RCV003862940] | uncertain significance | 17 | 61467564 | 61467564 | Human | | name |
| 405278785 | CV3220447 | single nucleotide variant | NM_001321120.2(TBX4):c.621C>T (p.Phe207=) | TBX4-related disorder [RCV004554484]|not provided [RCV005103064] | likely benign | 17 | 61478698 | 61478698 | Human | 1 | name , trait , alternate_id |
| 11622468 | CV329218 | single nucleotide variant | NM_001321120.2(TBX4):c.921C>T (p.Asn307=) | Coxopodopatellar syndrome [RCV000360546]|TBX4-related disorder [RCV004739685]|not provided [RCV000975801] | benign|likely benign | 17 | 61480219 | 61480219 | Human | 1 | name , trait , alternate_id |
| 408378844 | CV3504211 | single nucleotide variant | NM_001321120.2(TBX4):c.40T>C (p.Phe14Leu) | TBX4-related disorder [RCV004728147] | uncertain significance | 17 | 61456530 | 61456530 | Human | | name , trait , alternate_id |
| 597834778 | CV3739556 | single nucleotide variant | NM_001321120.2(TBX4):c.963C>A (p.Leu321=) | not provided [RCV005063775] | likely benign | 17 | 61480261 | 61480261 | Human | | name |
| 598208927 | CV3913101 | single nucleotide variant | NM_001321120.2(TBX4):c.30C>A (p.Ser10Arg) | Inborn genetic diseases [RCV005291596] | uncertain significance | 17 | 61456520 | 61456520 | Human | 1 | name |
| 15130560 | CV755999 | single nucleotide variant | NM_001321120.2(TBX4):c.780C>T (p.Ala260=) | not provided [RCV000920029] | benign | 17 | 61479958 | 61479958 | Human | | name |
| 15141406 | CV785659 | single nucleotide variant | NM_001321120.2(TBX4):c.864G>A (p.Pro288=) | not provided [RCV000982974] | likely benign | 17 | 61480162 | 61480162 | Human | | name |
| 15174445 | CV789310 | deletion | NM_001321120.2(TBX4):c.251del (p.Gly84fs) | Coxopodopatellar syndrome [RCV000984861]|Pulmonary hypertension, primary, 1 [RCV001827122] | pathogenic | 17 | 61457599 | 61457599 | Human | 2 | name |
| 28897688 | CV877992 | single nucleotide variant | NM_001321120.2(TBX4):c.47C>T (p.Ala16Val) | Coxopodopatellar syndrome [RCV001123297] | uncertain significance | 17 | 61456537 | 61456537 | Human | 1 | name |
| 126735279 | CV1001027 | single nucleotide variant | NM_001321120.2(TBX4):c.1497C>A (p.Pro499=) | not provided [RCV001311491] | likely benign | 17 | 61483372 | 61483372 | Human | | name |
| 150404444 | CV1175668 | single nucleotide variant | NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala) | Coxopodopatellar syndrome [RCV001544551]|Pulmonary hypertension, primary, 1 [RCV001826389] | conflicting interpretations of pathogenicity|uncertain significance | 17 | 61465829 | 61465829 | Human | 2 | name |
| 150456279 | CV1249593 | insertion | NM_001321120.2(TBX4):c.282-100_282-99insTT | not provided [RCV001668808] | benign | 17 | 61465719 | 61465720 | Human | | name |
| 150549609 | CV1299551 | single nucleotide variant | NM_001321120.2(TBX4):c.266T>A (p.Ile89Asn) | not provided [RCV001752477] | uncertain significance | 17 | 61457616 | 61457616 | Human | | name |
| 151664436 | CV1332611 | single nucleotide variant | NM_001321120.2(TBX4):c.231G>A (p.Trp77Ter) | Pulmonary hypertension, primary, 1 [RCV001829319] | not provided | 17 | 61457581 | 61457581 | Human | | name |
| 151664444 | CV1332619 | deletion | NM_001321120.2(TBX4):c.664del (p.Thr222fs) | Pulmonary hypertension, primary, 1 [RCV001829327] | likely pathogenic | 17 | 61478741 | 61478741 | Human | 1 | name |
| 151664458 | CV1332633 | single nucleotide variant | NM_001321120.2(TBX4):c.287T>A (p.Met96Lys) | Coxopodopatellar syndrome [RCV001829341] | not provided | 17 | 61465824 | 61465824 | Human | | name |
| 151664466 | CV1332641 | duplication | NM_001321120.2(TBX4):c.847dup (p.Gln283fs) | Pulmonary hypertension, primary, 1 [RCV001829349] | likely pathogenic | 17 | 61480139 | 61480140 | Human | 1 | name |
| 151664473 | CV1332648 | single nucleotide variant | NM_001321120.2(TBX4):c.293C>T (p.Pro98Leu) | Pulmonary hypertension, primary, 1 [RCV001829356] | uncertain significance | 17 | 61465830 | 61465830 | Human | 1 | name |
| 151664481 | CV1332656 | deletion | NM_001321120.2(TBX4):c.789del (p.Ser264fs) | Pulmonary hypertension, primary, 1 [RCV001829364] | likely pathogenic | 17 | 61479967 | 61479967 | Human | 1 | name |
| 151664493 | CV1332668 | single nucleotide variant | NM_001321120.2(TBX4):c.167C>T (p.Ala56Val) | Pulmonary hypertension, primary, 1 [RCV001829376] | uncertain significance | 17 | 61456657 | 61456657 | Human | 1 | name |
| 151664496 | CV1332671 | single nucleotide variant | NM_001321120.2(TBX4):c.229T>C (p.Trp77Arg) | Pulmonary hypertension, primary, 1 [RCV001829379] | not provided | 17 | 61457579 | 61457579 | Human | | name |
| 151880456 | CV1360039 | single nucleotide variant | NM_001321120.2(TBX4):c.175G>A (p.Ala59Thr) | not provided [RCV002036796] | uncertain significance | 17 | 61456665 | 61456665 | Human | | name |
| 151884519 | CV1366794 | deletion | NM_001321120.2(TBX4):c.994del (p.Leu332fs) | not provided [RCV001941745] | pathogenic | 17 | 61480291 | 61480291 | Human | | name |
| 152135057 | CV1638495 | single nucleotide variant | NM_001321120.2(TBX4):c.1350C>T (p.Thr450=) | not provided [RCV002083392] | likely benign | 17 | 61483225 | 61483225 | Human | | name |
| 156418434 | CV1911103 | single nucleotide variant | NM_001321120.2(TBX4):c.151G>C (p.Gly51Arg) | Inborn genetic diseases [RCV004676157]|not provided [RCV002611625] | uncertain significance | 17 | 61456641 | 61456641 | Human | 1 | name |
| 156028182 | CV2049023 | single nucleotide variant | NM_001321120.2(TBX4):c.271A>G (p.Lys91Glu) | Coxopodopatellar syndrome [RCV002795926] | likely pathogenic | 17 | 61457621 | 61457621 | Human | 1 | name |
| 8597697 | CV22895 | single nucleotide variant | NM_001321120.2(TBX4):c.184C>T (p.Gln62Ter) | Coxopodopatellar syndrome [RCV000008306] | pathogenic | 17 | 61456674 | 61456674 | Human | 1 | name |
| 11550965 | CV256298 | single nucleotide variant | NM_001321120.2(TBX4):c.1449C>T (p.Val483=) | Coxopodopatellar syndrome [RCV000396021]|not provided [RCV001723853]|not specified [RCV000252435] | benign | 17 | 61483324 | 61483324 | Human | 1 | name |
| 401857119 | CV2752097 | deletion | NM_001321120.2(TBX4):c.748del (p.Arg250fs) | TBX4-related disorder [RCV003335974] | likely pathogenic | 17 | 61479925 | 61479925 | Human | | name , trait , alternate_id |
| 405203645 | CV2986156 | deletion | NM_001321120.2(TBX4):c.593del (p.Ile198fs) | not provided [RCV003678456] | pathogenic | 17 | 61478670 | 61478670 | Human | | name |
| 405230883 | CV2988210 | single nucleotide variant | NM_001321120.2(TBX4):c.178G>A (p.Ala60Thr) | Inborn genetic diseases [RCV004963751]|not provided [RCV003711500] | uncertain significance | 17 | 61456668 | 61456668 | Human | 1 | name |
| 405228075 | CV3065713 | single nucleotide variant | NM_001321120.2(TBX4):c.1464C>T (p.Pro488=) | not provided [RCV003734406] | likely benign | 17 | 61483339 | 61483339 | Human | | name |
| 11615635 | CV329217 | single nucleotide variant | NM_001321120.2(TBX4):c.172G>A (p.Ala58Thr) | Coxopodopatellar syndrome [RCV000287501] | benign|likely benign | 17 | 61456662 | 61456662 | Human | 1 | name |
| 11621585 | CV329221 | single nucleotide variant | NM_001321120.2(TBX4):c.1524G>A (p.Ser508=) | Coxopodopatellar syndrome [RCV000350420]|not provided [RCV002524433] | benign|likely benign | 17 | 61483399 | 61483399 | Human | 1 | name |
| 11625479 | CV329223 | single nucleotide variant | NM_001321120.2(TBX4):c.1623G>A (p.Glu541=) | Coxopodopatellar syndrome [RCV000399441]|not provided [RCV000949006] | benign|likely benign | 17 | 61483498 | 61483498 | Human | 1 | name |
| 405791662 | CV3331672 | single nucleotide variant | NM_001321120.2(TBX4):c.125C>A (p.Ala42Asp) | Inborn genetic diseases [RCV004474322] | uncertain significance | 17 | 61456615 | 61456615 | Human | 1 | name |
| 405791735 | CV3331675 | single nucleotide variant | NM_001321120.2(TBX4):c.265A>G (p.Ile89Val) | Inborn genetic diseases [RCV004474325] | uncertain significance | 17 | 61457615 | 61457615 | Human | 1 | name |
| 11662923 | CV339413 | single nucleotide variant | NM_001321120.2(TBX4):c.110C>T (p.Pro37Leu) | Coxopodopatellar syndrome [RCV000390376]|Inborn genetic diseases [RCV004021708] | uncertain significance | 17 | 61456600 | 61456600 | Human | 2 | name |
| 11623812 | CV339422 | single nucleotide variant | NM_001321120.2(TBX4):c.1005C>T (p.His335=) | Coxopodopatellar syndrome [RCV000377806]|not provided [RCV003409510] | benign|likely benign | 17 | 61480303 | 61480303 | Human | 1 | name |
| 11619750 | CV339424 | single nucleotide variant | NM_001321120.2(TBX4):c.1086G>C (p.Val362=) | Coxopodopatellar syndrome [RCV000329274]|not provided [RCV000934130] | benign|likely benign | 17 | 61482961 | 61482961 | Human | 1 | name |
| 11624063 | CV339426 | single nucleotide variant | NM_001321120.2(TBX4):c.1158G>A (p.Glu386=) | Coxopodopatellar syndrome [RCV000381426]|not provided [RCV003718189] | benign|likely benign | 17 | 61483033 | 61483033 | Human | 1 | name |
| 11616273 | CV339430 | single nucleotide variant | NM_001321120.2(TBX4):c.1515G>A (p.Lys505=) | Coxopodopatellar syndrome [RCV000293101]|not provided [RCV000971814] | benign|likely benign | 17 | 61483390 | 61483390 | Human | 1 | name |
| 11630487 | CV345229 | single nucleotide variant | NM_001321120.2(TBX4):c.1227C>T (p.Asp409=) | Coxopodopatellar syndrome [RCV000351494]|not provided [RCV001683304] | benign | 17 | 61483102 | 61483102 | Human | 1 | name |
| 11627565 | CV346632 | single nucleotide variant | NM_001321120.2(TBX4):c.104C>T (p.Ala35Val) | Coxopodopatellar syndrome [RCV000284332]|not provided [RCV000952761] | benign|likely benign | 17 | 61456594 | 61456594 | Human | 1 | name |
| 407512825 | CV3485776 | single nucleotide variant | NM_001321120.2(TBX4):c.155C>T (p.Ala52Val) | Inborn genetic diseases [RCV004673570] | uncertain significance | 17 | 61456645 | 61456645 | Human | 1 | name |
| 407512827 | CV3485777 | single nucleotide variant | NM_001321120.2(TBX4):c.1380C>T (p.Ser460=) | Inborn genetic diseases [RCV004673571] | likely benign | 17 | 61483255 | 61483255 | Human | 1 | name |
| 597640273 | CV3619413 | single nucleotide variant | NM_001321120.2(TBX4):c.103G>T (p.Ala35Ser) | Inborn genetic diseases [RCV004971426]|not provided [RCV005107927] | uncertain significance | 17 | 61456593 | 61456593 | Human | 1 | name |
| 597848040 | CV3762039 | single nucleotide variant | NM_001321120.2(TBX4):c.1278G>A (p.Pro426=) | not provided [RCV005087457] | likely benign | 17 | 61483153 | 61483153 | Human | | name |
| 597838129 | CV3773277 | single nucleotide variant | NM_001321120.2(TBX4):c.1200C>T (p.Pro400=) | not provided [RCV005111184] | likely benign | 17 | 61483075 | 61483075 | Human | | name |
| 597876241 | CV3805075 | single nucleotide variant | NM_001321120.2(TBX4):c.208G>C (p.Gly70Arg) | not provided [RCV005151337] | uncertain significance | 17 | 61457558 | 61457558 | Human | | name |
| 597886807 | CV3815987 | single nucleotide variant | NM_001321120.2(TBX4):c.1314G>A (p.Val438=) | not provided [RCV005161739] | likely benign | 17 | 61483189 | 61483189 | Human | | name |
| 598178803 | CV4008494 | single nucleotide variant | NM_001321120.2(TBX4):c.143C>T (p.Pro48Leu) | Autosomal recessive amelia [RCV005394013] | uncertain significance | 17 | 61456633 | 61456633 | Human | 1 | name |
| 13212109 | CV426235 | single nucleotide variant | NM_001321120.2(TBX4):c.295A>G (p.Ser99Gly) | not provided [RCV000498351] | uncertain significance | 17 | 61465832 | 61465832 | Human | | name |
| 13704070 | CV539176 | single nucleotide variant | NM_001321120.2(TBX4):c.293C>G (p.Pro98Arg) | Pulmonary arterial hypertension associated with congenital heart disease [RCV000664176] | likely pathogenic | 17 | 61465830 | 61465830 | Human | 1 | name |
| 14696498 | CV622042 | duplication | NM_001321120.2(TBX4):c.355dup (p.Ile119fs) | Coxopodopatellar syndrome [RCV000782140] | pathogenic | 17 | 61465891 | 61465892 | Human | 1 | name |
| 14696499 | CV622043 | single nucleotide variant | NM_001321120.2(TBX4):c.256G>C (p.Glu86Gln) | not provided [RCV000782141] | uncertain significance | 17 | 61457606 | 61457606 | Human | | name |
| 15163773 | CV727328 | single nucleotide variant | NM_001321120.2(TBX4):c.1074C>T (p.Ala358=) | not provided [RCV000882046] | benign | 17 | 61482949 | 61482949 | Human | | name |
| 15201851 | CV727329 | single nucleotide variant | NM_001321120.2(TBX4):c.1113C>G (p.Pro371=) | Coxopodopatellar syndrome [RCV001123381]|not provided [RCV000891311] | benign|likely benign | 17 | 61482988 | 61482988 | Human | 1 | name |
| 15125460 | CV740921 | single nucleotide variant | NM_001321120.2(TBX4):c.1113C>A (p.Pro371=) | TBX4-related disorder [RCV004551690]|not provided [RCV000896765] | likely benign | 17 | 61482988 | 61482988 | Human | 1 | name , trait , alternate_id |
| 15141470 | CV740922 | single nucleotide variant | NM_001321120.2(TBX4):c.1362G>A (p.Pro454=) | not provided [RCV000899501] | likely benign | 17 | 61483237 | 61483237 | Human | | name |
| 15132859 | CV740923 | single nucleotide variant | NM_001321120.2(TBX4):c.1635C>T (p.Asp545=) | not provided [RCV000898032] | likely benign | 17 | 61483510 | 61483510 | Human | | name |
| 15162992 | CV756000 | single nucleotide variant | NM_001321120.2(TBX4):c.1317G>A (p.Pro439=) | not provided [RCV000926018] | likely benign | 17 | 61483192 | 61483192 | Human | | name |
| 15111972 | CV756001 | single nucleotide variant | NM_001321120.2(TBX4):c.1572C>A (p.Ser524=) | not provided [RCV000916829] | likely benign | 17 | 61483447 | 61483447 | Human | | name |
| 15173566 | CV788977 | single nucleotide variant | NM_001321120.2(TBX4):c.256G>A (p.Glu86Lys) | Primary pulmonary hypoplasia [RCV000984347] | uncertain significance | 17 | 61457606 | 61457606 | Human | 1 | name |
| 21404832 | CV801173 | single nucleotide variant | NM_001321120.2(TBX4):c.121G>T (p.Gly41Ter) | Pulmonary arterial hypertension [RCV001003778] | likely pathogenic | 17 | 61456611 | 61456611 | Human | 2 | name |
| 21404834 | CV801174 | duplication | NM_001321120.2(TBX4):c.885dup (p.Thr296fs) | Pulmonary arterial hypertension [RCV001003779] | likely pathogenic | 17 | 61480182 | 61480183 | Human | 2 | name |
| 21404836 | CV801175 | deletion | NM_001321120.2(TBX4):c.972del (p.Thr326fs) | Pulmonary arterial hypertension [RCV001003780]|Pulmonary hypertension, primary, 1 [RCV001827162] | likely pathogenic|not provided | 17 | 61480268 | 61480268 | Human | 3 | name |
| 25319953 | CV805969 | deletion | NM_001321120.2(TBX4):c.636del (p.Ala213fs) | not provided [RCV001009099] | pathogenic | 17 | 61478713 | 61478713 | Human | | name |
| 28897909 | CV877999 | single nucleotide variant | NM_001321120.2(TBX4):c.1215G>T (p.Val405=) | Coxopodopatellar syndrome [RCV001123382] | uncertain significance | 17 | 61483090 | 61483090 | Human | 1 | name |
| 28897919 | CV878001 | single nucleotide variant | NM_001321120.2(TBX4):c.1401A>G (p.Pro467=) | Coxopodopatellar syndrome [RCV001123384] | uncertain significance | 17 | 61483276 | 61483276 | Human | 1 | name |
| 127298374 | CV1147401 | single nucleotide variant | NM_001321120.2(TBX4):c.652G>A (p.Val218Met) | not provided [RCV001498033] | likely benign | 17 | 61478729 | 61478729 | Human | | name |
| 150441977 | CV1204634 | single nucleotide variant | NM_001321120.2(TBX4):c.569A>C (p.His190Pro) | Pulmonary hypertension, primary, 1 [RCV001827523]|not provided [RCV001583741] | likely pathogenic|uncertain significance | 17 | 61478646 | 61478646 | Human | 1 | name |
| 151664435 | CV1332610 | single nucleotide variant | NM_001321120.2(TBX4):c.781C>T (p.Arg261Ter) | Coxopodopatellar syndrome [RCV002074388]|Pulmonary hypertension, primary, 1 [RCV001829318] | pathogenic|not provided | 17 | 61479959 | 61479959 | Human | 2 | name |
| 151664439 | CV1332614 | single nucleotide variant | NM_001321120.2(TBX4):c.901C>T (p.Gln301Ter) | Coxopodopatellar syndrome [RCV001829322] | not provided | 17 | 61480199 | 61480199 | Human | | name |
| 151664440 | CV1332615 | single nucleotide variant | NM_001321120.2(TBX4):c.932C>A (p.Ser311Ter) | Coxopodopatellar syndrome [RCV001829323] | not provided | 17 | 61480230 | 61480230 | Human | | name |
| 151664445 | CV1332620 | single nucleotide variant | NM_001321120.2(TBX4):c.577C>T (p.Gln193Ter) | Pulmonary hypertension, primary, 1 [RCV001829328] | likely pathogenic | 17 | 61478654 | 61478654 | Human | 1 | name |
| 151664448 | CV1332623 | single nucleotide variant | NM_001321120.2(TBX4):c.380A>C (p.Tyr127Ser) | Pulmonary hypertension, primary, 1 [RCV001829331] | likely pathogenic | 17 | 61465917 | 61465917 | Human | 1 | name |
| 151664449 | CV1332624 | single nucleotide variant | NM_001321120.2(TBX4):c.736G>A (p.Ala246Thr) | Pulmonary hypertension, primary, 1 [RCV001829332] | not provided | 17 | 61479914 | 61479914 | Human | | name |
| 151664451 | CV1332626 | duplication | NM_001321120.2(TBX4):c.1167dup (p.Arg390fs) | Coxopodopatellar syndrome [RCV001829334]|not provided [RCV002542784] | pathogenic|not provided | 17 | 61483037 | 61483038 | Human | 1 | name |
| 151664457 | CV1332632 | single nucleotide variant | NM_001321120.2(TBX4):c.538C>T (p.Pro180Ser) | Pulmonary hypertension, primary, 1 [RCV001829340] | not provided | 17 | 61467646 | 61467646 | Human | | name |
| 151664468 | CV1332643 | single nucleotide variant | NM_001321120.2(TBX4):c.338A>G (p.Tyr113Cys) | Coxopodopatellar syndrome [RCV001829351] | not provided | 17 | 61465875 | 61465875 | Human | | name |
| 151664469 | CV1332644 | single nucleotide variant | NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser) | Autosomal recessive amelia [RCV005397034]|Pulmonary hypertension, primary, 1 [RCV001829352] | likely pathogenic|uncertain significance | 17 | 61465853 | 61465853 | Human | 2 | name |
| 151664470 | CV1332645 | single nucleotide variant | NM_001321120.2(TBX4):c.379T>A (p.Tyr127Asn) | Autosomal recessive amelia [RCV001829353] | pathogenic | 17 | 61465916 | 61465916 | Human | 1 | name |
| 151664474 | CV1332649 | single nucleotide variant | NM_001321120.2(TBX4):c.299A>G (p.Tyr100Cys) | Pulmonary hypertension, primary, 1 [RCV001829357] | uncertain significance | 17 | 61465836 | 61465836 | Human | 1 | name |
| 151664475 | CV1332650 | single nucleotide variant | NM_001321120.2(TBX4):c.455C>T (p.Pro152Leu) | Pulmonary hypertension, primary, 1 [RCV001829358]|not provided [RCV002542786] | uncertain significance | 17 | 61467563 | 61467563 | Human | 1 | name |
| 151664476 | CV1332651 | single nucleotide variant | NM_001321120.2(TBX4):c.748C>T (p.Arg250Trp) | Coxopodopatellar syndrome [RCV001829359]|not provided [RCV002034695] | pathogenic|not provided | 17 | 61479926 | 61479926 | Human | 1 | name |
| 151664477 | CV1332652 | single nucleotide variant | NM_001321120.2(TBX4):c.529C>T (p.His177Tyr) | Pulmonary hypertension, primary, 1 [RCV001829360] | uncertain significance | 17 | 61467637 | 61467637 | Human | 1 | name |
| 151664480 | CV1332655 | single nucleotide variant | NM_001321120.2(TBX4):c.782G>A (p.Arg261Gln) | Pulmonary hypertension, primary, 1 [RCV001829363] | uncertain significance | 17 | 61479960 | 61479960 | Human | 1 | name |
| 151664482 | CV1332657 | single nucleotide variant | NM_001321120.2(TBX4):c.809T>G (p.Ile270Ser) | Pulmonary hypertension, primary, 1 [RCV001829365] | uncertain significance | 17 | 61480107 | 61480107 | Human | 1 | name |
| 151664483 | CV1332658 | single nucleotide variant | NM_001321120.2(TBX4):c.985G>T (p.Asp329Tyr) | Pulmonary hypertension, primary, 1 [RCV001829366] | pathogenic | 17 | 61480283 | 61480283 | Human | 1 | name |
| 151664490 | CV1332665 | duplication | NM_001321120.2(TBX4):c.1461dup (p.Pro488fs) | Pulmonary hypertension, primary, 1 [RCV001829373] | not provided | 17 | 61483331 | 61483332 | Human | | name |
| 151664491 | CV1332666 | single nucleotide variant | NM_001321120.2(TBX4):c.432G>T (p.Met144Ile) | Pulmonary hypertension, primary, 1 [RCV001829374] | not provided | 17 | 61467540 | 61467540 | Human | | name |
| 151664492 | CV1332667 | single nucleotide variant | NM_001321120.2(TBX4):c.401G>C (p.Trp134Ser) | Pulmonary hypertension, primary, 1 [RCV001829375] | not provided | 17 | 61465938 | 61465938 | Human | | name |
| 151664494 | CV1332669 | single nucleotide variant | NM_001321120.2(TBX4):c.916G>T (p.Glu306Ter) | Pulmonary hypertension, primary, 1 [RCV001829377] | likely pathogenic | 17 | 61480214 | 61480214 | Human | 1 | name |
| 151664495 | CV1332670 | single nucleotide variant | NM_001321120.2(TBX4):c.677C>A (p.Ser226Tyr) | Pulmonary hypertension, primary, 1 [RCV001829378] | not provided | 17 | 61478754 | 61478754 | Human | | name |
| 151784171 | CV1435187 | single nucleotide variant | NM_001321120.2(TBX4):c.863C>T (p.Pro288Leu) | not provided [RCV001916154] | uncertain significance | 17 | 61480161 | 61480161 | Human | | name |
| 155797781 | CV1860482 | single nucleotide variant | NM_001321120.2(TBX4):c.862C>G (p.Pro288Ala) | Inborn genetic diseases [RCV002569356]|not provided [RCV002467124] | uncertain significance | 17 | 61480160 | 61480160 | Human | 1 | name |
| 156192895 | CV2024220 | single nucleotide variant | NM_001321120.2(TBX4):c.934C>T (p.Gln312Ter) | not provided [RCV002711147] | pathogenic | 17 | 61480232 | 61480232 | Human | | name |
| 156268940 | CV2097291 | single nucleotide variant | NM_001321120.2(TBX4):c.721G>T (p.Glu241Ter) | not provided [RCV002877537] | pathogenic | 17 | 61479899 | 61479899 | Human | | name |
| 156045765 | CV2216031 | single nucleotide variant | NM_001321120.2(TBX4):c.902A>G (p.Gln301Arg) | Inborn genetic diseases [RCV002692554] | uncertain significance | 17 | 61480200 | 61480200 | Human | 1 | name |
| 156238666 | CV2235828 | single nucleotide variant | NM_001321120.2(TBX4):c.476C>G (p.Ala159Gly) | Inborn genetic diseases [RCV002768122] | uncertain significance | 17 | 61467584 | 61467584 | Human | 1 | name |
| 8597696 | CV22894 | single nucleotide variant | NM_001321120.2(TBX4):c.743G>T (p.Gly248Val) | Coxopodopatellar syndrome [RCV000008305] | pathogenic | 17 | 61479921 | 61479921 | Human | 1 | name |
| 329377199 | CV2457072 | single nucleotide variant | NM_001321120.2(TBX4):c.560A>C (p.Asn187Thr) | Inborn genetic diseases [RCV003186299] | uncertain significance | 17 | 61478637 | 61478637 | Human | 1 | name |
| 11548677 | CV256297 | single nucleotide variant | NM_001321120.2(TBX4):c.941C>T (p.Ala314Val) | Coxopodopatellar syndrome [RCV000320885]|not provided [RCV001689888]|not specified [RCV000249399] | benign | 17 | 61480239 | 61480239 | Human | 5 | name |
| 11548677 | CV256297 | single nucleotide variant | NM_001321120.2(TBX4):c.941C>T (p.Ala314Val) | Coxopodopatellar syndrome [RCV000320885]|not provided [RCV001689888]|not specified [RCV000249399] | benign | 17 | 61480239 | 61480240 | Human | 5 | name |
| 11567994 | CV263862 | single nucleotide variant | NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg) | Coxopodopatellar syndrome [RCV000984864]|Pulmonary hypertension, primary, 1 [RCV000258934] | pathogenic|uncertain significance | 17 | 61478634 | 61478634 | Human | 2 | name |
| 401731598 | CV2674427 | single nucleotide variant | NM_001321120.2(TBX4):c.367G>A (p.Asp123Asn) | Inborn genetic diseases [RCV003248650] | uncertain significance | 17 | 61465904 | 61465904 | Human | 1 | name |
| 401738648 | CV2676341 | single nucleotide variant | NM_001321120.2(TBX4):c.772C>T (p.Arg258Cys) | Inborn genetic diseases [RCV003240226] | uncertain significance | 17 | 61479950 | 61479950 | Human | 1 | name |
| 401798370 | CV2739334 | single nucleotide variant | NM_001321120.2(TBX4):c.445T>A (p.Tyr149Asn) | not provided [RCV003318982] | uncertain significance | 17 | 61467553 | 61467553 | Human | | name |
| 401875473 | CV2789063 | single nucleotide variant | NM_001321120.2(TBX4):c.652G>T (p.Val218Leu) | Inborn genetic diseases [RCV003383063] | uncertain significance | 17 | 61478729 | 61478729 | Human | 1 | name |
| 401901721 | CV2804528 | single nucleotide variant | NM_001321120.2(TBX4):c.784C>A (p.Leu262Met) | TBX4-related disorder [RCV004554104] | uncertain significance | 17 | 61479962 | 61479962 | Human | | name , trait , alternate_id |
| 402466924 | CV2915016 | single nucleotide variant | NM_001321120.2(TBX4):c.400T>C (p.Trp134Arg) | not provided [RCV003569559] | uncertain significance | 17 | 61465937 | 61465937 | Human | | name |
| 405117505 | CV2955694 | single nucleotide variant | NM_001321120.2(TBX4):c.847C>T (p.Gln283Ter) | not provided [RCV003671107] | pathogenic | 17 | 61480145 | 61480145 | Human | | name |
| 405160361 | CV3024845 | single nucleotide variant | NM_001321120.2(TBX4):c.571A>T (p.Lys191Ter) | not provided [RCV003703810] | pathogenic | 17 | 61478648 | 61478648 | Human | | name |
| 405178775 | CV3148732 | single nucleotide variant | NM_001321120.2(TBX4):c.487C>T (p.Arg163Trp) | not provided [RCV003858510] | uncertain significance | 17 | 61467595 | 61467595 | Human | | name |
| 405273660 | CV3198140 | single nucleotide variant | NM_001321120.2(TBX4):c.922G>A (p.Gly308Arg) | TBX4-related disorder [RCV004548916] | uncertain significance | 17 | 61480220 | 61480220 | Human | | name , trait , alternate_id |
| 405791738 | CV3331676 | single nucleotide variant | NM_001321120.2(TBX4):c.805G>A (p.Val269Met) | Inborn genetic diseases [RCV004474326] | uncertain significance | 17 | 61480103 | 61480103 | Human | 1 | name |
| 11612471 | CV339417 | single nucleotide variant | NM_001321120.2(TBX4):c.759T>A (p.Asp253Glu) | Coxopodopatellar syndrome [RCV000259583]|not provided [RCV003765881] | uncertain significance | 17 | 61479937 | 61479937 | Human | 1 | name |
| 11631049 | CV346641 | single nucleotide variant | NM_001321120.2(TBX4):c.335A>G (p.Lys112Arg) | Coxopodopatellar syndrome [RCV000367202]|Inborn genetic diseases [RCV003168479] | likely benign|uncertain significance | 17 | 61465872 | 61465872 | Human | 2 | name |
| 11628340 | CV346642 | single nucleotide variant | NM_001321120.2(TBX4):c.622G>A (p.Gly208Ser) | Coxopodopatellar syndrome [RCV000299534] | benign|likely benign | 17 | 61478699 | 61478699 | Human | 1 | name |
| 11626705 | CV346643 | single nucleotide variant | NM_001321120.2(TBX4):c.932C>T (p.Ser311Leu) | Coxopodopatellar syndrome [RCV000268145]|TBX4-related disorder [RCV004549715]|not provided [RCV000949005] | benign|likely benign | 17 | 61480230 | 61480230 | Human | 1 | name , trait , alternate_id |
| 407512832 | CV3485779 | single nucleotide variant | NM_001321120.2(TBX4):c.868G>C (p.Val290Leu) | Inborn genetic diseases [RCV004673573] | uncertain significance | 17 | 61480166 | 61480166 | Human | 1 | name |
| 407512834 | CV3485781 | single nucleotide variant | NM_001321120.2(TBX4):c.890A>G (p.His297Arg) | Inborn genetic diseases [RCV004673574] | uncertain significance | 17 | 61480188 | 61480188 | Human | 1 | name |
| 408370517 | CV3510232 | single nucleotide variant | NM_001321120.2(TBX4):c.893A>G (p.Gln298Arg) | TBX4-related disorder [RCV004739776] | uncertain significance | 17 | 61480191 | 61480191 | Human | | name , trait , alternate_id |
| 596929131 | CV3530969 | single nucleotide variant | NM_001321120.2(TBX4):c.785T>A (p.Leu262Gln) | not provided [RCV004779543] | uncertain significance | 17 | 61479963 | 61479963 | Human | | name |
| 596927248 | CV3532538 | single nucleotide variant | NM_001321120.2(TBX4):c.452A>G (p.His151Arg) | not provided [RCV004778636] | uncertain significance | 17 | 61467560 | 61467560 | Human | | name |
| 596928662 | CV3540501 | single nucleotide variant | NM_001321120.2(TBX4):c.928C>T (p.His310Tyr) | not provided [RCV004794828] | uncertain significance | 17 | 61480226 | 61480226 | Human | | name |
| 597640276 | CV3619414 | single nucleotide variant | NM_001321120.2(TBX4):c.829C>G (p.Gln277Glu) | Inborn genetic diseases [RCV004971427] | uncertain significance | 17 | 61480127 | 61480127 | Human | 1 | name |
| 597640281 | CV3619416 | single nucleotide variant | NM_001321120.2(TBX4):c.709C>G (p.Gln237Glu) | Inborn genetic diseases [RCV004971428] | uncertain significance | 17 | 61479887 | 61479887 | Human | 1 | name |
| 597853320 | CV3737733 | single nucleotide variant | NM_001321120.2(TBX4):c.395A>G (p.Asn132Ser) | not provided [RCV005066506] | uncertain significance | 17 | 61465932 | 61465932 | Human | | name |
| 597837120 | CV3763971 | single nucleotide variant | NM_001321120.2(TBX4):c.688T>G (p.Tyr230Asp) | not provided [RCV005109372] | uncertain significance | 17 | 61478765 | 61478765 | Human | | name |
| 598127486 | CV3882694 | single nucleotide variant | NM_001321120.2(TBX4):c.932C>G (p.Ser311Ter) | not provided [RCV005234224] | likely pathogenic | 17 | 61480230 | 61480230 | Human | | name |
| 598208923 | CV3913100 | single nucleotide variant | NM_001321120.2(TBX4):c.823A>G (p.Met275Val) | Inborn genetic diseases [RCV005291595] | uncertain significance | 17 | 61480121 | 61480121 | Human | 1 | name |
| 13481894 | CV445848 | single nucleotide variant | NM_001321120.2(TBX4):c.709C>T (p.Gln237Ter) | not provided [RCV000521634] | pathogenic | 17 | 61479887 | 61479887 | Human | | name |
| 13704079 | CV539179 | single nucleotide variant | NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln) | Pulmonary arterial hypertension associated with congenital heart disease [RCV000664181]|not provided [RCV003718276] | pathogenic|likely pathogenic|uncertain significance | 17 | 61479927 | 61479927 | Human | 1 | name |
| 13704072 | CV539180 | deletion | NM_001321120.2(TBX4):c.1077del (p.Ser360fs) | Pulmonary arterial hypertension associated with congenital heart disease [RCV000664177] | uncertain significance | 17 | 61482948 | 61482948 | Human | 1 | name |
| 13704076 | CV539181 | deletion | NM_001321120.2(TBX4):c.1115del (p.Pro372fs) | Pulmonary arterial hypertension associated with congenital heart disease [RCV000664179]|Pulmonary hypertension, primary, 1 [RCV001829825]|not provided [RCV002530597] | pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records | 17 | 61482984 | 61482984 | Human | 2 | name |
| 21067069 | CV625980 | single nucleotide variant | NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) | Autosomal recessive amelia [RCV001251075]|Coxopodopatellar syndrome [RCV001251076]|Hydronephrosis [RCV000991130] | pathogenic | 17 | 61467510 | 61467510 | Human | 9 | name |
| 15142821 | CV740920 | single nucleotide variant | NM_001321120.2(TBX4):c.844C>T (p.Pro282Ser) | TBX4-related disorder [RCV004551712]|not provided [RCV000899736] | benign|likely benign | 17 | 61480142 | 61480142 | Human | 1 | name , trait , alternate_id |
| 21073064 | CV788913 | single nucleotide variant | NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr) | Coxopodopatellar syndrome [RCV000984951] | uncertain significance | 17 | 61467632 | 61467632 | Human | 1 | name |
| 21071018 | CV794273 | single nucleotide variant | NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter) | Abnormality of prenatal development or birth [RCV001814249]|Autosomal recessive amelia [RCV000993789]|Coxopodopatellar syndrome [RCV000993790] | pathogenic | 17 | 61465876 | 61465876 | Human | 3 | name |
| 21404830 | CV801172 | deletion | NM_001321120.2(TBX4):c.40_49del (p.Phe14fs) | Pulmonary arterial hypertension [RCV001003777]|Pulmonary hypertension, primary, 1 [RCV001827161] | likely pathogenic|not provided | 17 | 61456528 | 61456537 | Human | 3 | name |
| 21404841 | CV801178 | duplication | NM_001321120.2(TBX4):c.1115dup (p.Pro373fs) | Coxopodopatellar syndrome [RCV001251174]|Coxopodopatellar syndrome [RCV001843368]|Pulmonary arterial hypertension [RCV001003783]|Pulmonary hypertension, primary, 1 [RCV001827163]|Pulmonary hypertension, primary, 1 [RCV001827164]|not provided [RCV002551706] | pathogenic|likely pathogenic|not provided | 17 | 61482983 | 61482984 | Human | 4 | name |
| 28902875 | CV877994 | single nucleotide variant | NM_001321120.2(TBX4):c.399A>T (p.Lys133Asn) | Coxopodopatellar syndrome [RCV001125402]|Inborn genetic diseases [RCV002556715]|not provided [RCV003546635] | benign|uncertain significance | 17 | 61465936 | 61465936 | Human | 2 | name |
| 28902880 | CV877995 | single nucleotide variant | NM_001321120.2(TBX4):c.595G>A (p.Val199Ile) | Coxopodopatellar syndrome [RCV001125403]|Inborn genetic diseases [RCV004963133]|not provided [RCV002556716] | benign|likely benign|uncertain significance | 17 | 61478672 | 61478672 | Human | 2 | name |
| 28902882 | CV877996 | single nucleotide variant | NM_001321120.2(TBX4):c.658C>A (p.Pro220Thr) | Coxopodopatellar syndrome [RCV001125404] | uncertain significance | 17 | 61478735 | 61478735 | Human | 1 | name |
| 38597712 | CV964488 | deletion | NM_001321120.2(TBX4):c.1090del (p.Glu364fs) | Coxopodopatellar syndrome [RCV001253035] | uncertain significance | 17 | 61482961 | 61482961 | Human | 1 | name |
| 40815877 | CV970530 | single nucleotide variant | NM_001321120.2(TBX4):c.979C>T (p.Gln327Ter) | Coxopodopatellar syndrome [RCV001261981] | likely pathogenic | 17 | 61480277 | 61480277 | Human | 1 | name |
| 126735270 | CV1001026 | single nucleotide variant | NM_001321120.2(TBX4):c.1289A>G (p.Tyr430Cys) | not provided [RCV001311490] | uncertain significance | 17 | 61483164 | 61483164 | Human | | name |
| 127316929 | CV1147402 | single nucleotide variant | NM_001321120.2(TBX4):c.1584A>C (p.Glu528Asp) | Inborn genetic diseases [RCV003264045]|not provided [RCV001503196] | likely benign|uncertain significance | 17 | 61483459 | 61483459 | Human | 1 | name |
| 150521495 | CV1289152 | single nucleotide variant | NM_001321120.2(TBX4):c.1352C>A (p.Thr451Asn) | Inborn genetic diseases [RCV004040012]|not provided [RCV001725917] | uncertain significance | 17 | 61483227 | 61483227 | Human | 1 | name |
| 150521101 | CV1290056 | single nucleotide variant | NM_001321120.2(TBX4):c.1468G>A (p.Ala490Thr) | not provided [RCV001730457] | likely benign | 17 | 61483343 | 61483343 | Human | | name |
| 151664433 | CV1332608 | single nucleotide variant | NM_001321120.2(TBX4):c.1426A>C (p.Asn476His) | Pulmonary hypertension, primary, 1 [RCV001829316] | not provided | 17 | 61483301 | 61483301 | Human | | name |
| 151664437 | CV1332612 | single nucleotide variant | NM_001321120.2(TBX4):c.1122C>G (p.Tyr374Ter) | Pulmonary hypertension, primary, 1 [RCV001829320] | not provided | 17 | 61482997 | 61482997 | Human | | name |
| 151664438 | CV1332613 | single nucleotide variant | NM_001321120.2(TBX4):c.1065T>G (p.Tyr355Ter) | Coxopodopatellar syndrome [RCV001829321] | not provided | 17 | 61482940 | 61482940 | Human | | name |
| 151664441 | CV1332616 | single nucleotide variant | NM_001321120.2(TBX4):c.1058G>T (p.Arg353Leu) | Pulmonary hypertension, primary, 1 [RCV001829324] | uncertain significance | 17 | 61482933 | 61482933 | Human | 1 | name |
| 151664442 | CV1332617 | single nucleotide variant | NM_001321120.2(TBX4):c.1210G>A (p.Gly404Arg) | Pulmonary hypertension, primary, 1 [RCV001829325]|not provided [RCV002542783] | likely benign|uncertain significance | 17 | 61483085 | 61483085 | Human | 1 | name |
| 151664452 | CV1332627 | single nucleotide variant | NM_001321120.2(TBX4):c.1012A>T (p.Lys338Ter) | Pulmonary hypertension, primary, 1 [RCV001829335] | not provided | 17 | 61480310 | 61480310 | Human | | name |
| 151664453 | CV1332628 | single nucleotide variant | NM_001321120.2(TBX4):c.1186T>C (p.Ser396Pro) | Pulmonary hypertension, primary, 1 [RCV001829336] | not provided | 17 | 61483061 | 61483061 | Human | | name |
| 151664454 | CV1332629 | single nucleotide variant | NM_001321120.2(TBX4):c.1277C>A (p.Pro426Gln) | Pulmonary hypertension, primary, 1 [RCV001829337] | not provided | 17 | 61483152 | 61483152 | Human | | name |
| 151664455 | CV1332630 | single nucleotide variant | NM_001321120.2(TBX4):c.1546G>A (p.Glu516Lys) | Pulmonary hypertension, primary, 1 [RCV001829338] | not provided | 17 | 61483421 | 61483421 | Human | | name |
| 151664459 | CV1332634 | single nucleotide variant | NM_001321120.2(TBX4):c.1027G>T (p.Gly343Cys) | Pulmonary hypertension, primary, 1 [RCV001829342] | not provided | 17 | 61482902 | 61482902 | Human | | name |
| 151664460 | CV1332635 | single nucleotide variant | NM_001321120.2(TBX4):c.1106G>A (p.Arg369His) | Pulmonary hypertension, primary, 1 [RCV001829343] | not provided | 17 | 61482981 | 61482981 | Human | | name |
| 151664462 | CV1332637 | single nucleotide variant | NM_001321120.2(TBX4):c.1345G>A (p.Ala449Thr) | Pulmonary hypertension, primary, 1 [RCV001829345]|not provided [RCV002466704] | uncertain significance|not provided | 17 | 61483220 | 61483220 | Human | 1 | name |
| 151664463 | CV1332638 | single nucleotide variant | NM_001321120.2(TBX4):c.1150T>C (p.Cys384Arg) | Pulmonary hypertension, primary, 1 [RCV001829346] | not provided | 17 | 61483025 | 61483025 | Human | | name |
| 151664465 | CV1332640 | single nucleotide variant | NM_001321120.2(TBX4):c.1201G>A (p.Glu401Lys) | Primary pulmonary hypoplasia [RCV001829348] | not provided | 17 | 61483076 | 61483076 | Human | | name |
| 151664484 | CV1332659 | single nucleotide variant | NM_001321120.2(TBX4):c.1021G>C (p.Ala341Pro) | Pulmonary hypertension, primary, 1 [RCV001829367] | not provided | 17 | 61480319 | 61480319 | Human | | name |
| 151664485 | CV1332660 | single nucleotide variant | NM_001321120.2(TBX4):c.1148A>C (p.Tyr383Ser) | Pulmonary hypertension, primary, 1 [RCV001829368]|not provided [RCV003136184] | uncertain significance|not provided | 17 | 61483023 | 61483023 | Human | 1 | name |
| 151664486 | CV1332661 | single nucleotide variant | NM_001321120.2(TBX4):c.1122C>A (p.Tyr374Ter) | Pulmonary hypertension, primary, 1 [RCV001829369] | likely pathogenic | 17 | 61482997 | 61482997 | Human | 1 | name |
| 151664498 | CV1332673 | single nucleotide variant | NM_001321120.2(TBX4):c.1354A>G (p.Met452Val) | Pulmonary hypertension, primary, 1 [RCV001829381] | not provided | 17 | 61483229 | 61483229 | Human | | name |
| 151718945 | CV1421706 | single nucleotide variant | NM_001321120.2(TBX4):c.1078T>A (p.Ser360Thr) | Inborn genetic diseases [RCV004042774]|not provided [RCV001909419] | uncertain significance | 17 | 61482953 | 61482953 | Human | 1 | name |
| 152076981 | CV1592075 | single nucleotide variant | NM_001321120.2(TBX4):c.1451G>A (p.Arg484Gln) | not provided [RCV002112238] | likely benign | 17 | 61483326 | 61483326 | Human | | name |
| 156281676 | CV1877115 | single nucleotide variant | NM_001321120.2(TBX4):c.1034G>A (p.Arg345His) | not provided [RCV003061085] | uncertain significance | 17 | 61482909 | 61482909 | Human | | name |
| 156376373 | CV1896019 | single nucleotide variant | NM_001321120.2(TBX4):c.1489G>A (p.Gly497Ser) | not provided [RCV003092908] | uncertain significance | 17 | 61483364 | 61483364 | Human | | name |
| 156362626 | CV1905166 | single nucleotide variant | NM_001321120.2(TBX4):c.1114C>G (p.Pro372Ala) | not provided [RCV002602607] | uncertain significance | 17 | 61482989 | 61482989 | Human | | name |
| 156295136 | CV1926724 | single nucleotide variant | NM_001321120.2(TBX4):c.1244C>T (p.Pro415Leu) | not provided [RCV002628979] | likely benign | 17 | 61483119 | 61483119 | Human | | name |
| 156086218 | CV1987633 | single nucleotide variant | NM_001321120.2(TBX4):c.1363C>T (p.Arg455Trp) | not provided [RCV002621706] | uncertain significance | 17 | 61483238 | 61483238 | Human | | name |
| 156092947 | CV2216893 | single nucleotide variant | NM_001321120.2(TBX4):c.1396C>T (p.Pro466Ser) | Inborn genetic diseases [RCV002661468] | uncertain significance | 17 | 61483271 | 61483271 | Human | 1 | name |
| 156233471 | CV2245262 | single nucleotide variant | NM_001321120.2(TBX4):c.1580G>A (p.Arg527Gln) | Inborn genetic diseases [RCV002767805] | uncertain significance | 17 | 61483455 | 61483455 | Human | 1 | name |
| 8597698 | CV22896 | single nucleotide variant | NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg) | Coxopodopatellar syndrome [RCV000008307] | pathogenic | 17 | 61483470 | 61483470 | Human | 1 | name |
| 156170304 | CV2317132 | single nucleotide variant | NM_001321120.2(TBX4):c.1301C>T (p.Thr434Met) | Inborn genetic diseases [RCV002929801] | uncertain significance | 17 | 61483176 | 61483176 | Human | 1 | name |
| 156356606 | CV2320821 | single nucleotide variant | NM_001321120.2(TBX4):c.1181T>C (p.Met394Thr) | Inborn genetic diseases [RCV002940709] | uncertain significance | 17 | 61483056 | 61483056 | Human | 1 | name |
| 155904220 | CV2385446 | single nucleotide variant | NM_001321120.2(TBX4):c.1565C>G (p.Thr522Ser) | Inborn genetic diseases [RCV002749190] | likely benign | 17 | 61483440 | 61483440 | Human | 1 | name |
| 329359445 | CV2446267 | single nucleotide variant | NM_001321120.2(TBX4):c.1114C>A (p.Pro372Thr) | Inborn genetic diseases [RCV003179428] | uncertain significance | 17 | 61482989 | 61482989 | Human | 1 | name |
| 329388570 | CV2469387 | single nucleotide variant | NM_001321120.2(TBX4):c.1558T>A (p.Ser520Thr) | Inborn genetic diseases [RCV003215834] | uncertain significance | 17 | 61483433 | 61483433 | Human | 1 | name |
| 329951960 | CV2668294 | single nucleotide variant | NM_001321120.2(TBX4):c.1021G>A (p.Ala341Thr) | Coxopodopatellar syndrome [RCV003229798] | uncertain significance | 17 | 61480319 | 61480319 | Human | 1 | name |
| 401741532 | CV2713634 | single nucleotide variant | NM_001321120.2(TBX4):c.1436C>T (p.Ser479Phe) | Inborn genetic diseases [RCV003292622] | uncertain significance | 17 | 61483311 | 61483311 | Human | 1 | name |
| 405239020 | CV3081483 | single nucleotide variant | NM_001321120.2(TBX4):c.1213G>A (p.Val405Met) | not provided [RCV003736532] | uncertain significance | 17 | 61483088 | 61483088 | Human | | name |
| 405791655 | CV3331670 | single nucleotide variant | NM_001321120.2(TBX4):c.1051T>G (p.Cys351Gly) | Inborn genetic diseases [RCV004474320] | uncertain significance | 17 | 61482926 | 61482926 | Human | 1 | name |
| 405791729 | CV3331673 | single nucleotide variant | NM_001321120.2(TBX4):c.1334C>T (p.Thr445Met) | Inborn genetic diseases [RCV004474323] | uncertain significance | 17 | 61483209 | 61483209 | Human | 1 | name |
| 405791732 | CV3331674 | single nucleotide variant | NM_001321120.2(TBX4):c.1499A>G (p.Gln500Arg) | Inborn genetic diseases [RCV004474324] | uncertain significance | 17 | 61483374 | 61483374 | Human | 1 | name |
| 11615971 | CV339423 | single nucleotide variant | NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val) | Coxopodopatellar syndrome [RCV000290587]|Pulmonary hypertension, primary, 1 [RCV001828322] | likely benign|uncertain significance|not provided | 17 | 61482948 | 61482948 | Human | 2 | name |
| 407427293 | CV3411843 | single nucleotide variant | NM_001321120.2(TBX4):c.1126C>G (p.Gln376Glu) | not provided [RCV004592014] | uncertain significance | 17 | 61483001 | 61483001 | Human | | name |
| 11627850 | CV346648 | single nucleotide variant | NM_001321120.2(TBX4):c.1217C>G (p.Ser406Cys) | Coxopodopatellar syndrome [RCV000289412]|TBX4-related disorder [RCV004549716]|not provided [RCV000906439] | benign|likely benign | 17 | 61483092 | 61483092 | Human | 1 | name , trait , alternate_id |
| 407512823 | CV3485775 | single nucleotide variant | NM_001321120.2(TBX4):c.1409C>G (p.Ala470Gly) | Inborn genetic diseases [RCV004673569] | uncertain significance | 17 | 61483284 | 61483284 | Human | 1 | name |
| 407512830 | CV3485778 | single nucleotide variant | NM_001321120.2(TBX4):c.1635C>A (p.Asp545Glu) | Inborn genetic diseases [RCV004673572] | uncertain significance | 17 | 61483510 | 61483510 | Human | 1 | name |
| 407530732 | CV3485780 | single nucleotide variant | NM_001321120.2(TBX4):c.1412A>G (p.His471Arg) | Inborn genetic diseases [RCV004682061] | uncertain significance | 17 | 61483287 | 61483287 | Human | 1 | name |
| 597640260 | CV3619410 | single nucleotide variant | NM_001321120.2(TBX4):c.1082C>T (p.Ser361Leu) | Inborn genetic diseases [RCV004971423] | uncertain significance | 17 | 61482957 | 61482957 | Human | 1 | name |
| 597640263 | CV3619411 | single nucleotide variant | NM_001321120.2(TBX4):c.1397C>T (p.Pro466Leu) | Inborn genetic diseases [RCV004971424] | uncertain significance | 17 | 61483272 | 61483272 | Human | 1 | name |
| 597640267 | CV3619412 | single nucleotide variant | NM_001321120.2(TBX4):c.1115C>G (p.Pro372Arg) | Inborn genetic diseases [RCV004971425] | uncertain significance | 17 | 61482990 | 61482990 | Human | 1 | name |
| 597640285 | CV3619417 | single nucleotide variant | NM_001321120.2(TBX4):c.1316C>T (p.Pro439Leu) | Inborn genetic diseases [RCV004971429] | uncertain significance | 17 | 61483191 | 61483191 | Human | 1 | name |
| 597930725 | CV3745880 | single nucleotide variant | NM_001321120.2(TBX4):c.1027G>A (p.Gly343Ser) | not provided [RCV005075865] | uncertain significance | 17 | 61482902 | 61482902 | Human | | name |
| 597956931 | CV3754738 | single nucleotide variant | NM_001321120.2(TBX4):c.1228G>A (p.Asp410Asn) | not provided [RCV005080588] | uncertain significance | 17 | 61483103 | 61483103 | Human | | name |
| 597875393 | CV3800061 | single nucleotide variant | NM_001321120.2(TBX4):c.1001A>G (p.Tyr334Cys) | not provided [RCV005150540] | uncertain significance | 17 | 61480299 | 61480299 | Human | | name |
| 597903378 | CV3826166 | single nucleotide variant | NM_001321120.2(TBX4):c.1508A>G (p.Glu503Gly) | not provided [RCV005177862] | uncertain significance | 17 | 61483383 | 61483383 | Human | | name |
| 598163370 | CV3913099 | single nucleotide variant | NM_001321120.2(TBX4):c.1232T>C (p.Leu411Pro) | Inborn genetic diseases [RCV005283107] | uncertain significance | 17 | 61483107 | 61483107 | Human | 1 | name |
| 598208931 | CV3913103 | single nucleotide variant | NM_001321120.2(TBX4):c.1270G>A (p.Val424Met) | Inborn genetic diseases [RCV005291597] | uncertain significance | 17 | 61483145 | 61483145 | Human | 1 | name |
| 14395960 | CV611864 | single nucleotide variant | NM_001321120.2(TBX4):c.1018C>T (p.Arg340Ter) | Coxopodopatellar syndrome [RCV005253110]|not provided [RCV000760681] | pathogenic | 17 | 61480316 | 61480316 | Human | 1 | name |
| 15174446 | CV789311 | single nucleotide variant | NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter) | Coxopodopatellar syndrome [RCV000984862]|Pulmonary hypertension, primary, 1 [RCV001827123]|not provided [RCV002549631] | pathogenic | 17 | 61482932 | 61482932 | Human | 2 | name |
| 26919287 | CV845725 | single nucleotide variant | NM_001321120.2(TBX4):c.1579C>T (p.Arg527Ter) | not provided [RCV001045196] | pathogenic|likely pathogenic | 17 | 61483454 | 61483454 | Human | | name |
| 28907285 | CV877997 | single nucleotide variant | NM_001321120.2(TBX4):c.1105C>T (p.Arg369Cys) | Coxopodopatellar syndrome [RCV001127488]|Pulmonary hypertension, primary, 1 [RCV001828564]|not provided [RCV003727886] | likely benign|not provided | 17 | 61482980 | 61482980 | Human | 2 | name |
| 28897903 | CV877998 | single nucleotide variant | NM_001321120.2(TBX4):c.1109C>A (p.Ser370Tyr) | Coxopodopatellar syndrome [RCV001123380] | uncertain significance | 17 | 61482984 | 61482984 | Human | 1 | name |
| 28897915 | CV878000 | single nucleotide variant | NM_001321120.2(TBX4):c.1277C>T (p.Pro426Leu) | Coxopodopatellar syndrome [RCV001123383]|not provided [RCV004761936] | uncertain significance | 17 | 61483152 | 61483152 | Human | 1 | name |
| 151664471 | CV1332646 | microsatellite | NM_001321120.2(TBX4):c.179_180dup (p.Glu61fs) | Pulmonary hypertension, primary, 1 [RCV001829354] | likely pathogenic | 17 | 61456666 | 61456667 | Human | | name |
| 151664489 | CV1332664 | deletion | NM_001321120.2(TBX4):c.153_181del (p.Val54fs) | Pulmonary hypertension, primary, 1 [RCV001829372] | not provided | 17 | 61456640 | 61456668 | Human | | name |
| 401906463 | CV2808108 | microsatellite | NM_001321120.2(TBX4):c.165CGC[4] (p.Ala60del) | not provided [RCV003421385] | uncertain significance | 17 | 61456655 | 61456657 | Human | | name |
| 151664464 | CV1332639 | microsatellite | NM_001321120.2(TBX4):c.524_527del (p.Asn175fs) | Primary pulmonary hypoplasia [RCV001829347] | not provided | 17 | 61467628 | 61467631 | Human | | name |
| 151664478 | CV1332653 | duplication | NM_001321120.2(TBX4):c.561_570dup (p.Lys191fs) | Pulmonary hypertension, primary, 1 [RCV001829361] | likely pathogenic | 17 | 61478637 | 61478638 | Human | 1 | name |
| 151759506 | CV1340694 | deletion | NM_001321120.2(TBX4):c.669_672del (p.Phe224fs) | not provided [RCV001913815] | pathogenic | 17 | 61478744 | 61478747 | Human | | name |
| 13704078 | CV539177 | deletion | NM_001321120.2(TBX4):c.538_547del (p.Pro180fs) | Coxopodopatellar syndrome [RCV001829826]|Pulmonary arterial hypertension associated with congenital heart disease [RCV000664180] | likely pathogenic | 17 | 61467645 | 61467654 | Human | 2 | name |
| 151664443 | CV1332618 | deletion | NM_001321120.2(TBX4):c.500_502del (p.Ser167del) | Pulmonary hypertension, primary, 1 [RCV001829326] | uncertain significance | 17 | 61467606 | 61467608 | Human | 1 | name |
| 13704081 | CV539178 | deletion | NM_001321120.2(TBX4):c.670_672del (p.Phe224del) | Pulmonary arterial hypertension associated with congenital heart disease [RCV000664182] | likely pathogenic | 17 | 61478746 | 61478748 | Human | 1 | name |
| 151664446 | CV1332621 | microsatellite | NM_001321120.2(TBX4):c.509AGCTGA[1] (p.170KL[1]) | Pulmonary hypertension, primary, 1 [RCV001829329] | uncertain significance | 17 | 61467615 | 61467620 | Human | | name |
| 151664461 | CV1332636 | deletion | NM_001321120.2(TBX4):c.1167_1168del (p.Glu391fs) | Pulmonary hypertension, primary, 1 [RCV001829344] | not provided | 17 | 61483042 | 61483043 | Human | | name |
| 151664487 | CV1332662 | duplication | NM_001321120.2(TBX4):c.1420_1423dup (p.Tyr475fs) | Pulmonary hypertension, primary, 1 [RCV001829370] | likely pathogenic | 17 | 61483293 | 61483294 | Human | 1 | name |
| 597851220 | CV3781916 | duplication | NM_001321120.2(TBX4):c.1427_1430dup (p.Leu478fs) | not provided [RCV005126344] | pathogenic | 17 | 61483299 | 61483300 | Human | | name |
| 617153055 | CV4016543 | duplication | NM_001321120.2(TBX4):c.1104_1107dup (p.Ser370fs) | Coxopodopatellar syndrome [RCV005415506] | pathogenic | 17 | 61482977 | 61482978 | Human | 1 | name |
| 21404837 | CV801176 | duplication | NM_001321120.2(TBX4):c.1001_1004dup (p.His335fs) | Pulmonary arterial hypertension [RCV001003781] | likely pathogenic | 17 | 61480298 | 61480299 | Human | 2 | name |
| 21404842 | CV801179 | deletion | NM_001321120.2(TBX4):c.1163_1170del (p.Thr388fs) | Pulmonary arterial hypertension [RCV001003784]|Pulmonary hypertension, primary, 1 [RCV001827165] | likely pathogenic|not provided | 17 | 61483036 | 61483043 | Human | 3 | name |
| 156168355 | CV2019852 | deletion | NM_001321120.2(TBX4):c.55_75del (p.Pro19_Ser25del) | not provided [RCV002710407] | uncertain significance | 17 | 61456543 | 61456563 | Human | | name |
| 151664479 | CV1332654 | deletion | NM_001321120.2(TBX4):c.571_576del (p.Lys191_Tyr192del) | Pulmonary hypertension, primary, 1 [RCV001829362] | uncertain significance | 17 | 61478646 | 61478651 | Human | 1 | name |
| 405212488 | CV2878657 | microsatellite | NM_001321120.2(TBX4):c.165CGC[6] (p.Ala60_Glu61insAla) | not provided [RCV003552771] | uncertain significance | 17 | 61456654 | 61456655 | Human | | name |
| 21404839 | CV801177 | indel | NM_001321120.2(TBX4):c.1011_1012delinsTT (p.Lys338Ter) | Pulmonary arterial hypertension [RCV001003782] | likely pathogenic | 17 | 61480309 | 61480310 | Human | | name |
| 151664434 | CV1332609 | duplication | NM_001321120.2(TBX4):c.308_310dup (p.Lys103_Val104insGlu) | Pulmonary hypertension, primary, 1 [RCV001829317] | not provided | 17 | 61465844 | 61465845 | Human | | name |
