| NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001544551]|Pulmonary hypertension, primary, 1 [RCV001826389] |
Chr17:61465829 [GRCh38]
Chr17:59543190 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.743G>T (p.Gly248Val) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000008305] |
Chr17:61479921 [GRCh38]
Chr17:59557282 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.184C>T (p.Gln62Ter) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000008306] |
Chr17:61456674 [GRCh38]
Chr17:59534035 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.1595A>G (p.Gln532Arg) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000008307] |
Chr17:61483470 [GRCh38]
Chr17:59560831 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 |
copy number gain |
See cases [RCV000050957] |
Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2 |
pathogenic |
| GRCh38/hg38 17q23.1-23.2(chr17:60043448-62148729)x1 |
copy number loss |
See cases [RCV000051259] |
Chr17:60043448..62148729 [GRCh38]
Chr17:58120809..60226090 [GRCh37]
Chr17:55475591..57580872 [NCBI36]
Chr17:17q23.1-23.2 |
pathogenic |
| GRCh38/hg38 17q23.1-23.2(chr17:60095339-62237942)x1 |
copy number loss |
See cases [RCV000051161] |
Chr17:60095339..62237942 [GRCh38]
Chr17:58172700..60315303 [GRCh37]
Chr17:55527482..57670085 [NCBI36]
Chr17:17q23.1-23.2 |
pathogenic |
| GRCh37/hg19 17q23(chr17:58934659-60395826)x1 |
copy number loss |
See cases [RCV000051211] |
Chr17:58934659..60395826 [GRCh37]
Chr17:56289441..57750608 [NCBI36]
Chr17:17q23 |
pathogenic |
| GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] |
Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3 |
pathogenic |
| GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3 |
copy number gain |
See cases [RCV000052485] |
Chr17:59209629..64222315 [GRCh37]
Chr17:56564411..61652777 [NCBI36]
Chr17:17q23-24 |
pathogenic |
| NM_018488.2(TBX4):c.985G>A (p.Asp329Asn) |
single nucleotide variant |
Malignant melanoma [RCV000063269] |
Chr17:61480283 [GRCh38]
Chr17:59557644 [GRCh37]
Chr17:56912426 [NCBI36]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.1077del (p.Ser360fs) |
deletion |
Pulmonary arterial hypertension associated with congenital heart disease [RCV000664177] |
Chr17:61482948 [GRCh38]
Chr17:59560309 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.702+1G>A |
single nucleotide variant |
Pulmonary arterial hypertension associated with congenital heart disease [RCV000664178]|Pulmonary hypertension, primary, 1 [RCV001829824]|TBX4-related condition [RCV003403522]|not provided [RCV000660521] |
Chr17:61478780 [GRCh38]
Chr17:59556141 [GRCh37]
Chr17:17q23.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001321120.2(TBX4):c.1115del (p.Pro372fs) |
deletion |
Pulmonary arterial hypertension associated with congenital heart disease [RCV000664179]|Pulmonary hypertension, primary, 1 [RCV001829825]|not provided [RCV002530597] |
Chr17:61482984 [GRCh38]
Chr17:59560345 [GRCh37]
Chr17:17q23.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001321120.2(TBX4):c.293C>G (p.Pro98Arg) |
single nucleotide variant |
Pulmonary arterial hypertension associated with congenital heart disease [RCV000664176] |
Chr17:61465830 [GRCh38]
Chr17:59543191 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| GRCh38/hg38 17q23.2(chr17:60255192-62237942)x1 |
copy number loss |
See cases [RCV000135803] |
Chr17:60255192..62237942 [GRCh38]
Chr17:58332553..60315303 [GRCh37]
Chr17:55687335..57670085 [NCBI36]
Chr17:17q23.2 |
pathogenic|likely pathogenic |
| GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 |
copy number gain |
See cases [RCV000137437] |
Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1 |
pathogenic |
| NM_001321120.2(TBX4):c.557T>G (p.Leu186Arg) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000984864]|Pulmonary hypertension, primary, 1 [RCV000258934] |
Chr17:61478634 [GRCh38]
Chr17:59555995 [GRCh37]
Chr17:17q23.2 |
pathogenic|uncertain significance |
| NM_001321120.2(TBX4):c.402-8G>A |
single nucleotide variant |
Autosomal recessive amelia [RCV001815269]|Coxopodopatellar syndrome [RCV000393613]|not provided [RCV001668560]|not specified [RCV000244217] |
Chr17:61467502 [GRCh38]
Chr17:59544863 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.941C>T (p.Ala314Val) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000320885]|not provided [RCV001689888]|not specified [RCV000249399] |
Chr17:61480239 [GRCh38]
Chr17:59557600 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.1449C>T (p.Val483=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000396021]|not provided [RCV001723853]|not specified [RCV000252435] |
Chr17:61483324 [GRCh38]
Chr17:59560685 [GRCh37]
Chr17:17q23.2 |
benign |
| GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3 |
copy number gain |
See cases [RCV000240364] |
Chr17:56321134..62080001 [GRCh37]
Chr17:17q22-23.3 |
pathogenic |
| NM_001321120.2(TBX4):c.709C>T (p.Gln237Ter) |
single nucleotide variant |
not provided [RCV000521634] |
Chr17:61479887 [GRCh38]
Chr17:59557248 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.*98GT[24] |
microsatellite |
Coxopodopatellar syndrome [RCV000302661]|not provided [RCV001683305] |
Chr17:61483613..61483614 [GRCh38]
Chr17:59560974..59560975 [GRCh37]
Chr17:17q23.2 |
benign|uncertain significance |
| NM_001321120.2(TBX4):c.172G>A (p.Ala58Thr) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000287501] |
Chr17:61456662 [GRCh38]
Chr17:59534023 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.1073C>T (p.Ala358Val) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000290587]|Pulmonary hypertension, primary, 1 [RCV001828322] |
Chr17:61482948 [GRCh38]
Chr17:59560309 [GRCh37]
Chr17:17q23.2 |
likely benign|uncertain significance|not provided |
| NM_001321120.2(TBX4):c.*138A>G |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000292848]|not provided [RCV001690074] |
Chr17:61483654 [GRCh38]
Chr17:59561015 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.1515G>A (p.Lys505=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000293101]|not provided [RCV000971814] |
Chr17:61483390 [GRCh38]
Chr17:59560751 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.759T>A (p.Asp253Glu) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000259583]|not provided [RCV003765881] |
Chr17:61479937 [GRCh38]
Chr17:59557298 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.*7C>T |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000296936]|TBX4-related condition [RCV003922373] |
Chr17:61483523 [GRCh38]
Chr17:59560884 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.17G>C (p.Gly6Ala) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000342728]|not provided [RCV001613043] |
Chr17:61456507 [GRCh38]
Chr17:59533868 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.703-8C>T |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000356665]|not provided [RCV000883458] |
Chr17:61479873 [GRCh38]
Chr17:59557234 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.*98GT[26] |
microsatellite |
Coxopodopatellar syndrome [RCV000267442]|not provided [RCV001534539] |
Chr17:61483613..61483614 [GRCh38]
Chr17:59560974..59560975 [GRCh37]
Chr17:17q23.2 |
benign|uncertain significance |
| NM_001321120.2(TBX4):c.*661G>A |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000281258] |
Chr17:61484177 [GRCh38]
Chr17:59561538 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.*99T>A |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000273118] |
Chr17:61483615 [GRCh38]
Chr17:59560976 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.187-15C>T |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000344769] |
Chr17:61457522 [GRCh38]
Chr17:59534883 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.276T>G (p.Ala92=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000314981]|not provided [RCV001675821]|not specified [RCV000455356] |
Chr17:61457626 [GRCh38]
Chr17:59534987 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.335A>G (p.Lys112Arg) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000367202]|Inborn genetic diseases [RCV003168479] |
Chr17:61465872 [GRCh38]
Chr17:59543233 [GRCh37]
Chr17:17q23.2 |
likely benign|uncertain significance |
| NM_001321120.2(TBX4):c.1524G>A (p.Ser508=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000350420]|not provided [RCV002524433] |
Chr17:61483399 [GRCh38]
Chr17:59560760 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.*722C>A |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000398413] |
Chr17:61484238 [GRCh38]
Chr17:59561599 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.1623G>A (p.Glu541=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000399441]|not provided [RCV000949006] |
Chr17:61483498 [GRCh38]
Chr17:59560859 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.*327G>A |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000279851] |
Chr17:61483843 [GRCh38]
Chr17:59561204 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.1086G>C (p.Val362=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000329274]|not provided [RCV000934130] |
Chr17:61482961 [GRCh38]
Chr17:59560322 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.104C>T (p.Ala35Val) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000284332]|not provided [RCV000952761] |
Chr17:61456594 [GRCh38]
Chr17:59533955 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.24C>T (p.Ser8=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000376475]|TBX4-related condition [RCV003950104] |
Chr17:61456514 [GRCh38]
Chr17:59533875 [GRCh37]
Chr17:17q23.2 |
benign|likely benign|uncertain significance |
| NM_001321120.2(TBX4):c.*98GT[27] |
microsatellite |
Coxopodopatellar syndrome [RCV000327166]|not provided [RCV001636914] |
Chr17:61483613..61483614 [GRCh38]
Chr17:59560974..59560975 [GRCh37]
Chr17:17q23.2 |
benign|uncertain significance |
| NM_001321120.2(TBX4):c.16G>A (p.Gly6Ser) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000285413]|TBX4-related condition [RCV003910234]|not provided [RCV000969924] |
Chr17:61456506 [GRCh38]
Chr17:59533867 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.1005C>T (p.His335=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000377806]|not provided [RCV003409510] |
Chr17:61480303 [GRCh38]
Chr17:59557664 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.*98GT[25] |
microsatellite |
Coxopodopatellar syndrome [RCV000362091]|not provided [RCV001534565] |
Chr17:61483613..61483614 [GRCh38]
Chr17:59560974..59560975 [GRCh37]
Chr17:17q23.2 |
benign|uncertain significance |
| NM_001321120.2(TBX4):c.1217C>G (p.Ser406Cys) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000289412]|TBX4-related condition [RCV003910235]|not provided [RCV000906439] |
Chr17:61483092 [GRCh38]
Chr17:59560453 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.*313A>C |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000388254] |
Chr17:61483829 [GRCh38]
Chr17:59561190 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.*25G>A |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000356397] |
Chr17:61483541 [GRCh38]
Chr17:59560902 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.1158G>A (p.Glu386=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000381426]|not provided [RCV003718189] |
Chr17:61483033 [GRCh38]
Chr17:59560394 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.*98GT[21] |
microsatellite |
Coxopodopatellar syndrome [RCV000400825]|not provided [RCV001690073] |
Chr17:61483613..61483614 [GRCh38]
Chr17:59560974..59560975 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.921C>T (p.Asn307=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000360546]|not provided [RCV000975801] |
Chr17:61480219 [GRCh38]
Chr17:59557580 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.622G>A (p.Gly208Ser) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000299534] |
Chr17:61478699 [GRCh38]
Chr17:59556060 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.249G>A (p.Ala83=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000402371]|not provided [RCV000959772] |
Chr17:61457599 [GRCh38]
Chr17:59534960 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.791+11G>A |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000317187] |
Chr17:61479980 [GRCh38]
Chr17:59557341 [GRCh37]
Chr17:17q23.2 |
benign|uncertain significance |
| NM_001321120.2(TBX4):c.1227C>T (p.Asp409=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000351494]|not provided [RCV001683304] |
Chr17:61483102 [GRCh38]
Chr17:59560463 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.*707G>T |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000340879] |
Chr17:61484223 [GRCh38]
Chr17:59561584 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.932C>T (p.Ser311Leu) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000268145]|TBX4-related condition [RCV003957660]|not provided [RCV000949005] |
Chr17:61480230 [GRCh38]
Chr17:59557591 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.*766A>C |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000305444] |
Chr17:61484282 [GRCh38]
Chr17:59561643 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.108G>T (p.Ala36=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000346338] |
Chr17:61456598 [GRCh38]
Chr17:59533959 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.*98GT[18] |
microsatellite |
Coxopodopatellar syndrome [RCV000363023] |
Chr17:61483614..61483617 [GRCh38]
Chr17:59560975..59560978 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.*252G>C |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000333776] |
Chr17:61483768 [GRCh38]
Chr17:59561129 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.*383G>T |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000335097] |
Chr17:61483899 [GRCh38]
Chr17:59561260 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.*137TA[1] |
microsatellite |
Coxopodopatellar syndrome [RCV000387407] |
Chr17:61483653..61483654 [GRCh38]
Chr17:59561014..59561015 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.110C>T (p.Pro37Leu) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000390376] |
Chr17:61456600 [GRCh38]
Chr17:59533961 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.*627T>C |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000375727] |
Chr17:61484143 [GRCh38]
Chr17:59561504 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.*136_*139del |
deletion |
Coxopodopatellar syndrome [RCV000328214] |
Chr17:61483651..61483654 [GRCh38]
Chr17:59561012..59561015 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.281+1G>A |
single nucleotide variant |
not provided [RCV000520461] |
Chr17:61457632 [GRCh38]
Chr17:59534993 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 |
copy number gain |
See cases [RCV000447823] |
Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3 |
pathogenic |
| NM_001321120.2(TBX4):c.295A>G (p.Ser99Gly) |
single nucleotide variant |
not provided [RCV000498351] |
Chr17:61465832 [GRCh38]
Chr17:59543193 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1 |
copy number loss |
See cases [RCV000511292] |
Chr17:56623275..60285107 [GRCh37]
Chr17:17q22-23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.772C>T (p.Arg258Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003240226] |
Chr17:61479950 [GRCh38]
Chr17:59557311 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.367G>A (p.Asp123Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003248650] |
Chr17:61465904 [GRCh38]
Chr17:59543265 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| NM_001321120.2(TBX4):c.670_672del (p.Phe224del) |
deletion |
Pulmonary arterial hypertension associated with congenital heart disease [RCV000664182] |
Chr17:61478746..61478748 [GRCh38]
Chr17:59556107..59556109 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.538_547del (p.Pro180fs) |
deletion |
Coxopodopatellar syndrome [RCV001829826]|Pulmonary arterial hypertension associated with congenital heart disease [RCV000664180] |
Chr17:61467645..61467654 [GRCh38]
Chr17:59545006..59545015 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln) |
single nucleotide variant |
Pulmonary arterial hypertension associated with congenital heart disease [RCV000664181]|not provided [RCV003718276] |
Chr17:61479927 [GRCh38]
Chr17:59557288 [GRCh37]
Chr17:17q23.2 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh37/hg19 17q23.2(chr17:58388728-60486746)x1 |
copy number loss |
not provided [RCV000683946] |
Chr17:58388728..60486746 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| NM_001321120.2(TBX4):c.282-90T>C |
single nucleotide variant |
not provided [RCV001706988] |
Chr17:61465729 [GRCh38]
Chr17:59543090 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.402-61G>A |
single nucleotide variant |
not provided [RCV001669200] |
Chr17:61467449 [GRCh38]
Chr17:59544810 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.40_49del (p.Phe14fs) |
deletion |
Pulmonary arterial hypertension [RCV001003777]|Pulmonary hypertension, primary, 1 [RCV001827161] |
Chr17:61456528..61456537 [GRCh38]
Chr17:59533889..59533898 [GRCh37]
Chr17:17q23.2 |
likely pathogenic|not provided |
| NM_001321120.2(TBX4):c.1018C>T (p.Arg340Ter) |
single nucleotide variant |
not provided [RCV000760681] |
Chr17:61480316 [GRCh38]
Chr17:59557677 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.702+147C>T |
single nucleotide variant |
not provided [RCV001649026] |
Chr17:61478926 [GRCh38]
Chr17:59556287 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.251del (p.Gly84fs) |
deletion |
Coxopodopatellar syndrome [RCV000984861]|Pulmonary hypertension, primary, 1 [RCV001827122] |
Chr17:61457599 [GRCh38]
Chr17:59534960 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000984862]|Pulmonary hypertension, primary, 1 [RCV001827123]|not provided [RCV002549631] |
Chr17:61482932 [GRCh38]
Chr17:59560293 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.792-1G>C |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000984863]|Pulmonary hypertension, primary, 1 [RCV001827124] |
Chr17:61480089 [GRCh38]
Chr17:59557450 [GRCh37]
Chr17:17q23.2 |
pathogenic|likely pathogenic |
| NM_001321120.1:c.557T>G |
single nucleotide variant |
Ischiopatellar dysplasia [RCV000984864] |
|
pathogenic |
| NM_001321120.2(TBX4):c.792-8C>A |
single nucleotide variant |
not provided [RCV000926183] |
Chr17:61480082 [GRCh38]
Chr17:59557443 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.1074C>T (p.Ala358=) |
single nucleotide variant |
not provided [RCV000882046] |
Chr17:61482949 [GRCh38]
Chr17:59560310 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.401+3A>T |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001548763] |
Chr17:61465941 [GRCh38]
Chr17:59543302 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.281+1G>T |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000995662] |
Chr17:61457632 [GRCh38]
Chr17:59534993 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.355dup (p.Ile119fs) |
duplication |
Coxopodopatellar syndrome [RCV000782140] |
Chr17:61465891..61465892 [GRCh38]
Chr17:59543252..59543253 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| GRCh37/hg19 17q22-24.2(chr17:57357088-66306668) |
copy number gain |
not provided [RCV000767764] |
Chr17:57357088..66306668 [GRCh37]
Chr17:17q22-24.2 |
pathogenic |
| NM_001321120.2(TBX4):c.1635C>T (p.Asp545=) |
single nucleotide variant |
not provided [RCV000898032] |
Chr17:61483510 [GRCh38]
Chr17:59560871 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.256G>A (p.Glu86Lys) |
single nucleotide variant |
Primary pulmonary hypoplasia [RCV000984347] |
Chr17:61457606 [GRCh38]
Chr17:59534967 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1572C>A (p.Ser524=) |
single nucleotide variant |
not provided [RCV000916829] |
Chr17:61483447 [GRCh38]
Chr17:59560808 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.780C>T (p.Ala260=) |
single nucleotide variant |
not provided [RCV000920029] |
Chr17:61479958 [GRCh38]
Chr17:59557319 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.1362G>A (p.Pro454=) |
single nucleotide variant |
not provided [RCV000899501] |
Chr17:61483237 [GRCh38]
Chr17:59560598 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.1113C>A (p.Pro371=) |
single nucleotide variant |
TBX4-related condition [RCV003940781]|not provided [RCV000896765] |
Chr17:61482988 [GRCh38]
Chr17:59560349 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.844C>T (p.Pro282Ser) |
single nucleotide variant |
TBX4-related condition [RCV003922941]|not provided [RCV000899736] |
Chr17:61480142 [GRCh38]
Chr17:59557503 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.1317G>A (p.Pro439=) |
single nucleotide variant |
not provided [RCV000926018] |
Chr17:61483192 [GRCh38]
Chr17:59560553 [GRCh37]
Chr17:17q23.2 |
likely benign |
| GRCh37/hg19 17q23.1-23.2(chr17:58121190-60140614) |
copy number gain |
not provided [RCV000767765] |
Chr17:58121190..60140614 [GRCh37]
Chr17:17q23.1-23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) |
single nucleotide variant |
Autosomal recessive amelia [RCV001251075]|Coxopodopatellar syndrome [RCV001251076]|Hydronephrosis [RCV000991130] |
Chr17:61467510 [GRCh38]
Chr17:59544871 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.524A>C (p.Asn175Thr) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV000984951] |
Chr17:61467632 [GRCh38]
Chr17:59544993 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.256G>C (p.Glu86Gln) |
single nucleotide variant |
not provided [RCV000782141] |
Chr17:61457606 [GRCh38]
Chr17:59534967 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 |
copy number gain |
not provided [RCV000845965] |
Chr17:57869604..67078443 [GRCh37]
Chr17:17q23.1-24.2 |
pathogenic |
| NM_001321120.2(TBX4):c.339T>A (p.Tyr113Ter) |
single nucleotide variant |
Abnormality of prenatal development or birth [RCV001814249]|Autosomal recessive amelia [RCV000993789]|Coxopodopatellar syndrome [RCV000993790] |
Chr17:61465876 [GRCh38]
Chr17:59543237 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.972del (p.Thr326fs) |
deletion |
Pulmonary arterial hypertension [RCV001003780]|Pulmonary hypertension, primary, 1 [RCV001827162] |
Chr17:61480268 [GRCh38]
Chr17:59557629 [GRCh37]
Chr17:17q23.2 |
likely pathogenic|not provided |
| NM_001321120.2(TBX4):c.1163_1170del (p.Thr388fs) |
deletion |
Pulmonary arterial hypertension [RCV001003784]|Pulmonary hypertension, primary, 1 [RCV001827165] |
Chr17:61483036..61483043 [GRCh38]
Chr17:59560397..59560404 [GRCh37]
Chr17:17q23.2 |
likely pathogenic|not provided |
| NM_001321120.2(TBX4):c.595G>A (p.Val199Ile) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001125403]|not provided [RCV002556716] |
Chr17:61478672 [GRCh38]
Chr17:59556033 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.*428G>A |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001125493] |
Chr17:61483944 [GRCh38]
Chr17:59561305 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.71C>T (p.Ala24Val) |
single nucleotide variant |
not provided [RCV003104931] |
Chr17:61456561 [GRCh38]
Chr17:59533922 [GRCh37]
Chr17:17q23.2 |
benign |
| NC_000017.10:g.(?_58227396)_(59938900_?)dup |
duplication |
not provided [RCV003105288] |
Chr17:58227396..59938900 [GRCh37]
Chr17:17q23.1-23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.784C>A (p.Leu262Met) |
single nucleotide variant |
TBX4-related condition [RCV003393154] |
Chr17:61479962 [GRCh38]
Chr17:59557323 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1436C>T (p.Ser479Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003292622] |
Chr17:61483311 [GRCh38]
Chr17:59560672 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.401+223G>A |
single nucleotide variant |
not provided [RCV001676694] |
Chr17:61466161 [GRCh38]
Chr17:59543522 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.402-96C>T |
single nucleotide variant |
not provided [RCV001649948] |
Chr17:61467414 [GRCh38]
Chr17:59544775 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.240C>T (p.Phe80=) |
single nucleotide variant |
not provided [RCV000931792] |
Chr17:61457590 [GRCh38]
Chr17:59534951 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.159C>T (p.Asp53=) |
single nucleotide variant |
not provided [RCV000886263] |
Chr17:61456649 [GRCh38]
Chr17:59534010 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.864G>A (p.Pro288=) |
single nucleotide variant |
not provided [RCV000982974] |
Chr17:61480162 [GRCh38]
Chr17:59557523 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.791+11G>T |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001127487]|not provided [RCV003769222] |
Chr17:61479980 [GRCh38]
Chr17:59557341 [GRCh37]
Chr17:17q23.2 |
likely benign|uncertain significance |
| NM_001321120.2(TBX4):c.47C>T (p.Ala16Val) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001123297] |
Chr17:61456537 [GRCh38]
Chr17:59533898 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1113C>G (p.Pro371=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001123381]|not provided [RCV000891311] |
Chr17:61482988 [GRCh38]
Chr17:59560349 [GRCh37]
Chr17:17q23.2 |
benign|likely benign |
| NM_001321120.2(TBX4):c.1468G>A (p.Ala490Thr) |
single nucleotide variant |
not provided [RCV001730457] |
Chr17:61483343 [GRCh38]
Chr17:59560704 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.1352C>A (p.Thr451Asn) |
single nucleotide variant |
not provided [RCV001725917] |
Chr17:61483227 [GRCh38]
Chr17:59560588 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.862C>G (p.Pro288Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002569356]|not provided [RCV002467124] |
Chr17:61480160 [GRCh38]
Chr17:59557521 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1021+212C>G |
single nucleotide variant |
not provided [RCV001677836] |
Chr17:61480531 [GRCh38]
Chr17:59557892 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.804C>T (p.Pro268=) |
single nucleotide variant |
not provided [RCV003556493] |
Chr17:61480102 [GRCh38]
Chr17:59557463 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.*98GT[22] |
microsatellite |
not provided [RCV001656443] |
Chr17:61483613..61483614 [GRCh38]
Chr17:59560974..59560975 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.636del (p.Ala213fs) |
deletion |
not provided [RCV001009099] |
Chr17:61478713 [GRCh38]
Chr17:59556074 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.401+215G>C |
single nucleotide variant |
not provided [RCV001613906] |
Chr17:61466153 [GRCh38]
Chr17:59543514 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.1109C>A (p.Ser370Tyr) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001123380] |
Chr17:61482984 [GRCh38]
Chr17:59560345 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.*8G>A |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001124489] |
Chr17:61483524 [GRCh38]
Chr17:59560885 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.121G>T (p.Gly41Ter) |
single nucleotide variant |
Pulmonary arterial hypertension [RCV001003778] |
Chr17:61456611 [GRCh38]
Chr17:59533972 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.1115dup (p.Pro373fs) |
duplication |
Coxopodopatellar syndrome [RCV001251174]|Coxopodopatellar syndrome [RCV001843368]|Pulmonary arterial hypertension [RCV001003783]|Pulmonary hypertension, primary, 1 [RCV001827163]|Pulmonary hypertension, primary, 1 [RCV001827164]|not provided [RCV002551706] |
Chr17:61482983..61482984 [GRCh38]
Chr17:59560344..59560345 [GRCh37]
Chr17:17q23.2 |
pathogenic|likely pathogenic|not provided |
| NM_001321120.2(TBX4):c.1105C>T (p.Arg369Cys) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001127488]|Pulmonary hypertension, primary, 1 [RCV001828564]|not provided [RCV003727886] |
Chr17:61482980 [GRCh38]
Chr17:59560341 [GRCh37]
Chr17:17q23.2 |
likely benign|not provided |
| NM_001321120.2(TBX4):c.1215G>T (p.Val405=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001123382] |
Chr17:61483090 [GRCh38]
Chr17:59560451 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1277C>T (p.Pro426Leu) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001123383] |
Chr17:61483152 [GRCh38]
Chr17:59560513 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.150C>T (p.Pro50=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001124399] |
Chr17:61456640 [GRCh38]
Chr17:59534001 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.792-18T>C |
single nucleotide variant |
not provided [RCV001651757] |
Chr17:61480072 [GRCh38]
Chr17:59557433 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.569A>C (p.His190Pro) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001827523]|not provided [RCV001583741] |
Chr17:61478646 [GRCh38]
Chr17:59556007 [GRCh37]
Chr17:17q23.2 |
likely pathogenic|uncertain significance |
| NM_001321120.2(TBX4):c.885dup (p.Thr296fs) |
duplication |
Pulmonary arterial hypertension [RCV001003779] |
Chr17:61480182..61480183 [GRCh38]
Chr17:59557543..59557544 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.1001_1004dup (p.His335fs) |
duplication |
Pulmonary arterial hypertension [RCV001003781] |
Chr17:61480298..61480299 [GRCh38]
Chr17:59557659..59557660 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.1011_1012delinsTT (p.Lys338Ter) |
indel |
Pulmonary arterial hypertension [RCV001003782] |
Chr17:61480309..61480310 [GRCh38]
Chr17:59557670..59557671 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.1401A>G (p.Pro467=) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001123384] |
Chr17:61483276 [GRCh38]
Chr17:59560637 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1579C>T (p.Arg527Ter) |
single nucleotide variant |
not provided [RCV001045196] |
Chr17:61483454 [GRCh38]
Chr17:59560815 [GRCh37]
Chr17:17q23.2 |
pathogenic|likely pathogenic |
| NM_001321120.2(TBX4):c.*607G>T |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001125494] |
Chr17:61484123 [GRCh38]
Chr17:59561484 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.*759A>G |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001127599] |
Chr17:61484275 [GRCh38]
Chr17:59561636 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.399A>T (p.Lys133Asn) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001125402]|Inborn genetic diseases [RCV002556715]|not provided [RCV003546635] |
Chr17:61465936 [GRCh38]
Chr17:59543297 [GRCh37]
Chr17:17q23.2 |
benign|uncertain significance |
| NM_001321120.2(TBX4):c.658C>A (p.Pro220Thr) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001125404] |
Chr17:61478735 [GRCh38]
Chr17:59556096 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.*409G>A |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001125492] |
Chr17:61483925 [GRCh38]
Chr17:59561286 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1090del (p.Glu364fs) |
deletion |
Coxopodopatellar syndrome [RCV001253035] |
Chr17:61482961 [GRCh38]
Chr17:59560322 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.979C>T (p.Gln327Ter) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001261981] |
Chr17:61480277 [GRCh38]
Chr17:59557638 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.1497C>A (p.Pro499=) |
single nucleotide variant |
not provided [RCV001311491] |
Chr17:61483372 [GRCh38]
Chr17:59560733 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.1289A>G (p.Tyr430Cys) |
single nucleotide variant |
not provided [RCV001311490] |
Chr17:61483164 [GRCh38]
Chr17:59560525 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1584A>C (p.Glu528Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003264045]|not provided [RCV001503196] |
Chr17:61483459 [GRCh38]
Chr17:59560820 [GRCh37]
Chr17:17q23.2 |
likely benign|uncertain significance |
| NM_001321120.2(TBX4):c.282-100_282-99insTT |
insertion |
not provided [RCV001668808] |
Chr17:61465719..61465720 [GRCh38]
Chr17:59543080..59543081 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.402-155C>T |
single nucleotide variant |
not provided [RCV001671796] |
Chr17:61467355 [GRCh38]
Chr17:59544716 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.282-102_282-100del |
deletion |
not provided [RCV001673691] |
Chr17:61465717..61465719 [GRCh38]
Chr17:59543078..59543080 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.702+201C>T |
single nucleotide variant |
not provided [RCV001708557] |
Chr17:61478980 [GRCh38]
Chr17:59556341 [GRCh37]
Chr17:17q23.2 |
benign |
| NM_001321120.2(TBX4):c.652G>A (p.Val218Met) |
single nucleotide variant |
not provided [RCV001498033] |
Chr17:61478729 [GRCh38]
Chr17:59556090 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.1021+1G>A |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001827592]|not provided [RCV001787601] |
Chr17:61480320 [GRCh38]
Chr17:59557681 [GRCh37]
Chr17:17q23.2 |
pathogenic|likely pathogenic |
| NM_001321120.2(TBX4):c.266T>A (p.Ile89Asn) |
single nucleotide variant |
not provided [RCV001752477] |
Chr17:61457616 [GRCh38]
Chr17:59534977 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NC_000017.10:g.58076721_60362868del |
deletion |
Megacolon [RCV001290085] |
Chr17:58076721..60362868 [GRCh37]
Chr17:17q23.1-23.2 |
likely pathogenic |
| GRCh37/hg19 17q23.1-23.2(chr17:58111094-60323067) |
copy number gain |
Familial clubfoot due to 17q23.1q23.2 microduplication [RCV002280709] |
Chr17:58111094..60323067 [GRCh37]
Chr17:17q23.1-23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.1210G>A (p.Gly404Arg) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829325]|not provided [RCV002542783] |
Chr17:61483085 [GRCh38]
Chr17:59560446 [GRCh37]
Chr17:17q23.2 |
likely benign|uncertain significance |
| NM_001321120.2(TBX4):c.577C>T (p.Gln193Ter) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829328] |
Chr17:61478654 [GRCh38]
Chr17:59556015 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.1012A>T (p.Lys338Ter) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829335] |
Chr17:61480310 [GRCh38]
Chr17:59557671 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.1027G>T (p.Gly343Cys) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829342] |
Chr17:61482902 [GRCh38]
Chr17:59560263 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.1201G>A (p.Glu401Lys) |
single nucleotide variant |
Primary pulmonary hypoplasia [RCV001829348] |
Chr17:61483076 [GRCh38]
Chr17:59560437 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.809T>G (p.Ile270Ser) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829365] |
Chr17:61480107 [GRCh38]
Chr17:59557468 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.432G>T (p.Met144Ile) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829374] |
Chr17:61467540 [GRCh38]
Chr17:59544901 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.916G>T (p.Glu306Ter) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829377] |
Chr17:61480214 [GRCh38]
Chr17:59557575 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.932C>A (p.Ser311Ter) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001829323] |
Chr17:61480230 [GRCh38]
Chr17:59557591 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.509AGCTGA[1] (p.170KL[1]) |
microsatellite |
Pulmonary hypertension, primary, 1 [RCV001829329] |
Chr17:61467615..61467620 [GRCh38]
Chr17:59544976..59544981 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.64G>T (p.Gly22Ter) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829339]|not provided [RCV003718447] |
Chr17:61456554 [GRCh38]
Chr17:59533915 [GRCh37]
Chr17:17q23.2 |
pathogenic|not provided |
| NM_001321120.2(TBX4):c.338A>G (p.Tyr113Cys) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001829351] |
Chr17:61465875 [GRCh38]
Chr17:59543236 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.379T>A (p.Tyr127Asn) |
single nucleotide variant |
Autosomal recessive amelia [RCV001829353] |
Chr17:61465916 [GRCh38]
Chr17:59543277 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.455C>T (p.Pro152Leu) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829358]|not provided [RCV002542786] |
Chr17:61467563 [GRCh38]
Chr17:59544924 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.664del (p.Thr222fs) |
deletion |
Pulmonary hypertension, primary, 1 [RCV001829327] |
Chr17:61478741 [GRCh38]
Chr17:59556102 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.113dup (p.Leu39fs) |
duplication |
Coxopodopatellar syndrome [RCV001829333] |
Chr17:61456600..61456601 [GRCh38]
Chr17:59533961..59533962 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.287T>A (p.Met96Lys) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001829341] |
Chr17:61465824 [GRCh38]
Chr17:59543185 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.847dup (p.Gln283fs) |
duplication |
Pulmonary hypertension, primary, 1 [RCV001829349] |
Chr17:61480139..61480140 [GRCh38]
Chr17:59557500..59557501 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.985G>T (p.Asp329Tyr) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829366] |
Chr17:61480283 [GRCh38]
Chr17:59557644 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.1420_1423dup (p.Tyr475fs) |
duplication |
Pulmonary hypertension, primary, 1 [RCV001829370] |
Chr17:61483293..61483294 [GRCh38]
Chr17:59560654..59560655 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.401G>C (p.Trp134Ser) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829375] |
Chr17:61465938 [GRCh38]
Chr17:59543299 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.677C>A (p.Ser226Tyr) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829378] |
Chr17:61478754 [GRCh38]
Chr17:59556115 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.229T>C (p.Trp77Arg) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829379] |
Chr17:61457579 [GRCh38]
Chr17:59534940 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.-3-581G>A |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829380] |
Chr17:61455907 [GRCh38]
Chr17:59533268 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.380A>C (p.Tyr127Ser) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829331] |
Chr17:61465917 [GRCh38]
Chr17:59543278 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.1186T>C (p.Ser396Pro) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829336] |
Chr17:61483061 [GRCh38]
Chr17:59560422 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.1106G>A (p.Arg369His) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829343] |
Chr17:61482981 [GRCh38]
Chr17:59560342 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.179_180dup (p.Glu61fs) |
microsatellite |
Pulmonary hypertension, primary, 1 [RCV001829354] |
Chr17:61456666..61456667 [GRCh38]
Chr17:59534027..59534028 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.529C>T (p.His177Tyr) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829360] |
Chr17:61467637 [GRCh38]
Chr17:59544998 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.789del (p.Ser264fs) |
deletion |
Pulmonary hypertension, primary, 1 [RCV001829364] |
Chr17:61479967 [GRCh38]
Chr17:59557328 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.1148A>C (p.Tyr383Ser) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829368]|not provided [RCV003136184] |
Chr17:61483023 [GRCh38]
Chr17:59560384 [GRCh37]
Chr17:17q23.2 |
uncertain significance|not provided |
| NM_001321120.2(TBX4):c.153_181del (p.Val54fs) |
deletion |
Pulmonary hypertension, primary, 1 [RCV001829372] |
Chr17:61456640..61456668 [GRCh38]
Chr17:59534001..59534029 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.1461dup (p.Pro488fs) |
duplication |
Pulmonary hypertension, primary, 1 [RCV001829373] |
Chr17:61483331..61483332 [GRCh38]
Chr17:59560692..59560693 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.1078T>A (p.Ser360Thr) |
single nucleotide variant |
not provided [RCV001909419] |
Chr17:61482953 [GRCh38]
Chr17:59560314 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.669_672del (p.Phe224fs) |
deletion |
not provided [RCV001913815] |
Chr17:61478744..61478747 [GRCh38]
Chr17:59556105..59556108 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.1426A>C (p.Asn476His) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829316] |
Chr17:61483301 [GRCh38]
Chr17:59560662 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.308_310dup (p.Lys103_Val104insGlu) |
duplication |
Pulmonary hypertension, primary, 1 [RCV001829317] |
Chr17:61465844..61465845 [GRCh38]
Chr17:59543205..59543206 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.781C>T (p.Arg261Ter) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV002074388]|Pulmonary hypertension, primary, 1 [RCV001829318] |
Chr17:61479959 [GRCh38]
Chr17:59557320 [GRCh37]
Chr17:17q23.2 |
pathogenic|not provided |
| NM_001321120.2(TBX4):c.1065T>G (p.Tyr355Ter) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001829321] |
Chr17:61482940 [GRCh38]
Chr17:59560301 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.901C>T (p.Gln301Ter) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001829322] |
Chr17:61480199 [GRCh38]
Chr17:59557560 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.736G>A (p.Ala246Thr) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829332] |
Chr17:61479914 [GRCh38]
Chr17:59557275 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.1277C>A (p.Pro426Gln) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829337] |
Chr17:61483152 [GRCh38]
Chr17:59560513 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.1150T>C (p.Cys384Arg) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829346] |
Chr17:61483025 [GRCh38]
Chr17:59560386 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829352] |
Chr17:61465853 [GRCh38]
Chr17:59543214 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.293C>T (p.Pro98Leu) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829356] |
Chr17:61465830 [GRCh38]
Chr17:59543191 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.299A>G (p.Tyr100Cys) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829357] |
Chr17:61465836 [GRCh38]
Chr17:59543197 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.748C>T (p.Arg250Trp) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV001829359]|not provided [RCV002034695] |
Chr17:61479926 [GRCh38]
Chr17:59557287 [GRCh37]
Chr17:17q23.2 |
pathogenic|not provided |
| NM_001321120.2(TBX4):c.782G>A (p.Arg261Gln) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829363] |
Chr17:61479960 [GRCh38]
Chr17:59557321 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1021G>C (p.Ala341Pro) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829367] |
Chr17:61480319 [GRCh38]
Chr17:59557680 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.1122C>A (p.Tyr374Ter) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829369] |
Chr17:61482997 [GRCh38]
Chr17:59560358 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.167C>T (p.Ala56Val) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829376] |
Chr17:61456657 [GRCh38]
Chr17:59534018 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.231G>A (p.Trp77Ter) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829319] |
Chr17:61457581 [GRCh38]
Chr17:59534942 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.1122C>G (p.Tyr374Ter) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829320] |
Chr17:61482997 [GRCh38]
Chr17:59560358 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.1058G>T (p.Arg353Leu) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829324] |
Chr17:61482933 [GRCh38]
Chr17:59560294 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.150del (p.Ala52fs) |
deletion |
Pulmonary hypertension, primary, 1 [RCV001829330] |
Chr17:61456638 [GRCh38]
Chr17:59533999 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.1167dup (p.Arg390fs) |
duplication |
Coxopodopatellar syndrome [RCV001829334]|not provided [RCV002542784] |
Chr17:61483037..61483038 [GRCh38]
Chr17:59560398..59560399 [GRCh37]
Chr17:17q23.2 |
pathogenic|not provided |
| NM_001321120.2(TBX4):c.1167_1168del (p.Glu391fs) |
deletion |
Pulmonary hypertension, primary, 1 [RCV001829344] |
Chr17:61483042..61483043 [GRCh38]
Chr17:59560403..59560404 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.524_527del (p.Asn175fs) |
microsatellite |
Primary pulmonary hypoplasia [RCV001829347] |
Chr17:61467628..61467631 [GRCh38]
Chr17:59544989..59544992 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.210dup (p.Leu71fs) |
duplication |
Pulmonary hypertension, primary, 1 [RCV001829355]|not provided [RCV002542785] |
Chr17:61457556..61457557 [GRCh38]
Chr17:59534917..59534918 [GRCh37]
Chr17:17q23.2 |
pathogenic|likely pathogenic |
| NM_001321120.2(TBX4):c.500_502del (p.Ser167del) |
deletion |
Pulmonary hypertension, primary, 1 [RCV001829326] |
Chr17:61467606..61467608 [GRCh38]
Chr17:59544967..59544969 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1546G>A (p.Glu516Lys) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829338] |
Chr17:61483421 [GRCh38]
Chr17:59560782 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.538C>T (p.Pro180Ser) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829340] |
Chr17:61467646 [GRCh38]
Chr17:59545007 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.1345G>A (p.Ala449Thr) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829345]|not provided [RCV002466704] |
Chr17:61483220 [GRCh38]
Chr17:59560581 [GRCh37]
Chr17:17q23.2 |
uncertain significance|not provided |
| NM_001321120.2(TBX4):c.146del (p.Gly49fs) |
deletion |
Pulmonary hypertension, primary, 1 [RCV001829350] |
Chr17:61456634 [GRCh38]
Chr17:59533995 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.561_570dup (p.Lys191fs) |
duplication |
Pulmonary hypertension, primary, 1 [RCV001829361] |
Chr17:61478637..61478638 [GRCh38]
Chr17:59555998..59555999 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.571_576del (p.Lys191_Tyr192del) |
deletion |
Pulmonary hypertension, primary, 1 [RCV001829362] |
Chr17:61478646..61478651 [GRCh38]
Chr17:59556007..59556012 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.143dup (p.Pro50fs) |
duplication |
Pulmonary hypertension, primary, 1 [RCV001829371] |
Chr17:61456627..61456628 [GRCh38]
Chr17:59533988..59533989 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.1354A>G (p.Met452Val) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV001829381] |
Chr17:61483229 [GRCh38]
Chr17:59560590 [GRCh37]
Chr17:17q23.2 |
not provided |
| NM_001321120.2(TBX4):c.994del (p.Leu332fs) |
deletion |
not provided [RCV001941745] |
Chr17:61480291 [GRCh38]
Chr17:59557652 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.175G>A (p.Ala59Thr) |
single nucleotide variant |
not provided [RCV002036796] |
Chr17:61456665 [GRCh38]
Chr17:59534026 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.863C>T (p.Pro288Leu) |
single nucleotide variant |
not provided [RCV001916154] |
Chr17:61480161 [GRCh38]
Chr17:59557522 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NC_000017.10:g.(?_54671585)_(59938900_?)dup |
duplication |
Familial aplasia of the vermis [RCV001923071] |
Chr17:54671585..59938900 [GRCh37]
Chr17:17q22-23.2 |
uncertain significance |
| NC_000017.10:g.(?_59533852)_(59560877_?)del |
deletion |
not provided [RCV001951246] |
Chr17:59533852..59560877 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.1451G>A (p.Arg484Gln) |
single nucleotide variant |
not provided [RCV002112238] |
Chr17:61483326 [GRCh38]
Chr17:59560687 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.525C>T (p.Asn175=) |
single nucleotide variant |
not provided [RCV002174753] |
Chr17:61467633 [GRCh38]
Chr17:59544994 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV002249189] |
Chr17:61456493 [GRCh38]
Chr17:59533854 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.1350C>T (p.Thr450=) |
single nucleotide variant |
not provided [RCV002083392] |
Chr17:61483225 [GRCh38]
Chr17:59560586 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.186+16C>T |
single nucleotide variant |
not provided [RCV002100026] |
Chr17:61456692 [GRCh38]
Chr17:59534053 [GRCh37]
Chr17:17q23.2 |
benign |
| NC_000017.10:g.(?_58227396)_(59938900_?)del |
deletion |
not provided [RCV003113291] |
Chr17:58227396..59938900 [GRCh37]
Chr17:17q23.1-23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1021G>A (p.Ala341Thr) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV003229798] |
Chr17:61480319 [GRCh38]
Chr17:59557680 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1565C>G (p.Thr522Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002749190] |
Chr17:61483440 [GRCh38]
Chr17:59560801 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.612C>T (p.Asn204=) |
single nucleotide variant |
not provided [RCV002615133] |
Chr17:61478689 [GRCh38]
Chr17:59556050 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.271A>G (p.Lys91Glu) |
single nucleotide variant |
Coxopodopatellar syndrome [RCV002795926] |
Chr17:61457621 [GRCh38]
Chr17:59534982 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.1396C>T (p.Pro466Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002661468] |
Chr17:61483271 [GRCh38]
Chr17:59560632 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.902A>G (p.Gln301Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002692554] |
Chr17:61480200 [GRCh38]
Chr17:59557561 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1363C>T (p.Arg455Trp) |
single nucleotide variant |
not provided [RCV002621706] |
Chr17:61483238 [GRCh38]
Chr17:59560599 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1301C>T (p.Thr434Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002929801] |
Chr17:61483176 [GRCh38]
Chr17:59560537 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.55_75del (p.Pro19_Ser25del) |
deletion |
not provided [RCV002710407] |
Chr17:61456543..61456563 [GRCh38]
Chr17:59533904..59533924 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.934C>T (p.Gln312Ter) |
single nucleotide variant |
not provided [RCV002711147] |
Chr17:61480232 [GRCh38]
Chr17:59557593 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.476C>G (p.Ala159Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002768122] |
Chr17:61467584 [GRCh38]
Chr17:59544945 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1580G>A (p.Arg527Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002767805] |
Chr17:61483455 [GRCh38]
Chr17:59560816 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.97G>T (p.Ala33Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002935230] |
Chr17:61456587 [GRCh38]
Chr17:59533948 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1181T>C (p.Met394Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002940709] |
Chr17:61483056 [GRCh38]
Chr17:59560417 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1034G>A (p.Arg345His) |
single nucleotide variant |
not provided [RCV003061085] |
Chr17:61482909 [GRCh38]
Chr17:59560270 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.721G>T (p.Glu241Ter) |
single nucleotide variant |
not provided [RCV002877537] |
Chr17:61479899 [GRCh38]
Chr17:59557260 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.1244C>T (p.Pro415Leu) |
single nucleotide variant |
not provided [RCV002628979] |
Chr17:61483119 [GRCh38]
Chr17:59560480 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.1114C>G (p.Pro372Ala) |
single nucleotide variant |
not provided [RCV002602607] |
Chr17:61482989 [GRCh38]
Chr17:59560350 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1489G>A (p.Gly497Ser) |
single nucleotide variant |
not provided [RCV003092908] |
Chr17:61483364 [GRCh38]
Chr17:59560725 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.151G>C (p.Gly51Arg) |
single nucleotide variant |
not provided [RCV002611625] |
Chr17:61456641 [GRCh38]
Chr17:59534002 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.560A>C (p.Asn187Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003186299] |
Chr17:61478637 [GRCh38]
Chr17:59555998 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1558T>A (p.Ser520Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003215834] |
Chr17:61483433 [GRCh38]
Chr17:59560794 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1114C>A (p.Pro372Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003179428] |
Chr17:61482989 [GRCh38]
Chr17:59560350 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.445T>A (p.Tyr149Asn) |
single nucleotide variant |
not provided [RCV003318982] |
Chr17:61467553 [GRCh38]
Chr17:59544914 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.748del (p.Arg250fs) |
deletion |
TBX4-Related Disorders [RCV003335974] |
Chr17:61479925 [GRCh38]
Chr17:59557286 [GRCh37]
Chr17:17q23.2 |
likely pathogenic |
| NM_001321120.2(TBX4):c.23C>T (p.Ser8Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003373262] |
Chr17:61456513 [GRCh38]
Chr17:59533874 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.652G>T (p.Val218Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003383063] |
Chr17:61478729 [GRCh38]
Chr17:59556090 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.400T>C (p.Trp134Arg) |
single nucleotide variant |
not provided [RCV003569559] |
Chr17:61465937 [GRCh38]
Chr17:59543298 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| GRCh37/hg19 17q23.1-23.2(chr17:58111095-60355640)x1 |
copy number loss |
not provided [RCV003483321] |
Chr17:58111095..60355640 [GRCh37]
Chr17:17q23.1-23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.-3-583T>C |
single nucleotide variant |
not provided [RCV003428360] |
Chr17:61455905 [GRCh38]
Chr17:59533266 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.165CGC[4] (p.Ala60del) |
microsatellite |
not provided [RCV003421385] |
Chr17:61456655..61456657 [GRCh38]
Chr17:59534016..59534018 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.94C>G (p.Pro32Ala) |
single nucleotide variant |
not provided [RCV003442293] |
Chr17:61456584 [GRCh38]
Chr17:59533945 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.187-4C>T |
single nucleotide variant |
not provided [RCV003547118] |
Chr17:61457533 [GRCh38]
Chr17:59534894 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.549+12G>T |
single nucleotide variant |
not provided [RCV003816743] |
Chr17:61467669 [GRCh38]
Chr17:59545030 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.847C>T (p.Gln283Ter) |
single nucleotide variant |
not provided [RCV003671107] |
Chr17:61480145 [GRCh38]
Chr17:59557506 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.34G>A (p.Glu12Lys) |
single nucleotide variant |
not provided [RCV003734442] |
Chr17:61456524 [GRCh38]
Chr17:59533885 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.91G>A (p.Glu31Lys) |
single nucleotide variant |
not provided [RCV003670699] |
Chr17:61456581 [GRCh38]
Chr17:59533942 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.487C>T (p.Arg163Trp) |
single nucleotide variant |
not provided [RCV003858510] |
Chr17:61467595 [GRCh38]
Chr17:59544956 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.1464C>T (p.Pro488=) |
single nucleotide variant |
not provided [RCV003734406] |
Chr17:61483339 [GRCh38]
Chr17:59560700 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.178G>A (p.Ala60Thr) |
single nucleotide variant |
not provided [RCV003711500] |
Chr17:61456668 [GRCh38]
Chr17:59534029 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.571A>T (p.Lys191Ter) |
single nucleotide variant |
not provided [RCV003703810] |
Chr17:61478648 [GRCh38]
Chr17:59556009 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.1213G>A (p.Val405Met) |
single nucleotide variant |
not provided [RCV003736532] |
Chr17:61483088 [GRCh38]
Chr17:59560449 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.456G>T (p.Pro152=) |
single nucleotide variant |
not provided [RCV003862940] |
Chr17:61467564 [GRCh38]
Chr17:59544925 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.593del (p.Ile198fs) |
deletion |
not provided [RCV003678456] |
Chr17:61478670 [GRCh38]
Chr17:59556031 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.401+17C>T |
single nucleotide variant |
not provided [RCV003824328] |
Chr17:61465955 [GRCh38]
Chr17:59543316 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.165CGC[6] (p.Ala60_Glu61insAla) |
microsatellite |
not provided [RCV003552771] |
Chr17:61456654..61456655 [GRCh38]
Chr17:59534015..59534016 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.621C>T (p.Phe207=) |
single nucleotide variant |
TBX4-related condition [RCV003976647] |
Chr17:61478698 [GRCh38]
Chr17:59556059 [GRCh37]
Chr17:17q23.2 |
likely benign |
| NM_001321120.2(TBX4):c.922G>A (p.Gly308Arg) |
single nucleotide variant |
TBX4-related condition [RCV003901911] |
Chr17:61480220 [GRCh38]
Chr17:59557581 [GRCh37]
Chr17:17q23.2 |
uncertain significance |
| NM_001321120.2(TBX4):c.549+1G>A |
single nucleotide variant |
Coxopodopatellar syndrome [RCV003984957] |
Chr17:61467658 [GRCh38]
Chr17:59545019 [GRCh37]
Chr17:17q23.2 |
pathogenic |
| NM_001321120.2(TBX4):c.-3-587C>G |
single nucleotide variant |
TBX4-related condition [RCV003959717] |
Chr17:61455901 [GRCh38]
Chr17:59533262 [GRCh37]
Chr17:17q23.2 |
likely benign |
