| NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) |
single nucleotide variant |
IFT172-related disorder [RCV004553147]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001239376]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002476063]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003483653]|not provided [RCV000520966] |
Chr2:27446349 [GRCh38]
Chr2:27669216 [GRCh37]
Chr2:2p23.3 |
likely benign|uncertain significance|not provided |
| GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 |
copy number gain |
See cases [RCV000052929] |
Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1 |
pathogenic |
| GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 |
copy number gain |
See cases [RCV000052933] |
Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1 |
pathogenic |
| NM_015662.2(IFT172):c.5225C>T (p.Pro1742Leu) |
single nucleotide variant |
Malignant melanoma [RCV000065529] |
Chr2:27444457 [GRCh38]
Chr2:27667324 [GRCh37]
Chr2:27520828 [NCBI36]
Chr2:2p23.3 |
not provided |
| NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) |
single nucleotide variant |
IFT172-related disorder [RCV004737195]|Retinitis pigmentosa [RCV001723662]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV000083268]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001228000]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002483157] |
Chr2:27444503 [GRCh38]
Chr2:27667370 [GRCh37]
Chr2:2p23.3 |
pathogenic|uncertain significance |
| NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs) |
microsatellite |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002505011]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002514456]|Short-rib thoracic dysplasia 10 without polydactyly [RCV000083269] |
Chr2:27445436..27445439 [GRCh38]
Chr2:27668303..27668306 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| NM_015662.3(IFT172):c.4701C>A (p.His1567Gln) |
single nucleotide variant |
Bardet-Biedl syndrome 20 [RCV002508142]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003765075] |
Chr2:27446314 [GRCh38]
Chr2:27669181 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| NM_015662.3(IFT172):c.4815T>G (p.Asp1605Glu) |
single nucleotide variant |
Retinitis pigmentosa 71 [RCV000171550] |
Chr2:27445929 [GRCh38]
Chr2:27668796 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| NM_015662.3(IFT172):c.5069-3C>T |
single nucleotide variant |
IFT172-related disorder [RCV004548192]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001348672]|not provided [RCV001547620] |
Chr2:27445108 [GRCh38]
Chr2:27667975 [GRCh37]
Chr2:2p23.3 |
likely benign|uncertain significance |
| GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 |
copy number gain |
See cases [RCV000135398] |
Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2 |
pathogenic |
| GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 |
copy number gain |
See cases [RCV000141829] |
Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3 |
pathogenic |
| GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 |
copy number gain |
See cases [RCV000141494] |
Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2 |
benign |
| GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 |
copy number gain |
See cases [RCV000143682] |
Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21 |
pathogenic |
| NM_015662.3(IFT172):c.5133del (p.Trp1712fs) |
deletion |
Anophthalmia-microphthalmia syndrome [RCV000207390] |
Chr2:27445041 [GRCh38]
Chr2:27667908 [GRCh37]
Chr2:2p23.3 |
likely benign |
| GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 |
copy number gain |
not provided [RCV002473946] |
Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3 |
pathogenic |
| NM_015662.3(IFT172):c.*2T>C |
single nucleotide variant |
Retinal dystrophy [RCV003889883]|not provided [RCV004708803]|not specified [RCV000427224] |
Chr2:27444430 [GRCh38]
Chr2:27667297 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_015662.3(IFT172):c.4815+9G>A |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV000959806]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002488951]|not specified [RCV000431845] |
Chr2:27445920 [GRCh38]
Chr2:27668787 [GRCh37]
Chr2:2p23.3 |
benign|likely benign |
| NM_015662.3(IFT172):c.4745T>C (p.Ile1582Thr) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV000538712]|not provided [RCV003418114]|not specified [RCV000426896] |
Chr2:27446270 [GRCh38]
Chr2:27669137 [GRCh37]
Chr2:2p23.3 |
benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_015662.3(IFT172):c.4990C>T (p.Arg1664Trp) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV000653127]|not provided [RCV001692251] |
Chr2:27445374 [GRCh38]
Chr2:27668241 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_015662.3(IFT172):c.5059C>T (p.Leu1687Phe) |
single nucleotide variant |
IFT172-related disorder [RCV004737950]|Inborn genetic diseases [RCV004985073]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV000688035]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002485613] |
Chr2:27445305 [GRCh38]
Chr2:27668172 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_015662.3(IFT172):c.4999C>T (p.Arg1667Cys) |
single nucleotide variant |
IFT172-related disorder [RCV004738121]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001035181]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005029579] |
Chr2:27445365 [GRCh38]
Chr2:27668232 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5045G>A (p.Arg1682Gln) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001037958]|not provided [RCV003159175] |
Chr2:27445319 [GRCh38]
Chr2:27668186 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4755+9G>C |
single nucleotide variant |
IFT172-related disorder [RCV004738097]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV000945847]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002488024] |
Chr2:27446251 [GRCh38]
Chr2:27669118 [GRCh37]
Chr2:2p23.3 |
benign|likely benign |
| NM_015662.3(IFT172):c.4933G>A (p.Val1645Ile) |
single nucleotide variant |
IFT172-related disorder [RCV004553409]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV000952171]|not provided [RCV001585884] |
Chr2:27445431 [GRCh38]
Chr2:27668298 [GRCh37]
Chr2:2p23.3 |
benign|likely benign |
| NM_015662.3(IFT172):c.5031G>A (p.Ala1677=) |
single nucleotide variant |
not provided [RCV000937854] |
Chr2:27445333 [GRCh38]
Chr2:27668200 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5212T>G (p.Cys1738Gly) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001045509] |
Chr2:27444470 [GRCh38]
Chr2:27667337 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4677G>C (p.Arg1559Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002537449]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV000819858]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002478917]|not provided [RCV004822227] |
Chr2:27446338 [GRCh38]
Chr2:27669205 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5160+5G>A |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001229009] |
Chr2:27445009 [GRCh38]
Chr2:27667876 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5149A>C (p.Met1717Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004629516]|Retinal dystrophy [RCV004813992]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001243150]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002484339] |
Chr2:27445025 [GRCh38]
Chr2:27667892 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4991G>A (p.Arg1664Gln) |
single nucleotide variant |
IFT172-related disorder [RCV004738212]|Inborn genetic diseases [RCV002567919]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001238363]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002491773] |
Chr2:27445373 [GRCh38]
Chr2:27668240 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5160+62dup |
duplication |
not provided [RCV001652034] |
Chr2:27444951..27444952 [GRCh38]
Chr2:27667818..27667819 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_015662.3(IFT172):c.4756-41C>A |
single nucleotide variant |
not provided [RCV001592643] |
Chr2:27446029 [GRCh38]
Chr2:27668896 [GRCh37]
Chr2:2p23.3 |
likely benign |
| GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 |
copy number gain |
not provided [RCV001532444] |
Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21 |
likely pathogenic |
| NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys) |
single nucleotide variant |
IFT172-related disorder [RCV004553411]|Retinal dystrophy [RCV003890109]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV000952543]|not provided [RCV003141904] |
Chr2:27445949 [GRCh38]
Chr2:27668816 [GRCh37]
Chr2:2p23.3 |
likely benign|uncertain significance |
| NM_015662.3(IFT172):c.5187C>T (p.Asp1729=) |
single nucleotide variant |
Retinal dystrophy [RCV003890002]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV000877810]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002507541]|not provided [RCV003424423] |
Chr2:27444495 [GRCh38]
Chr2:27667362 [GRCh37]
Chr2:2p23.3 |
benign|likely benign |
| NM_015662.3(IFT172):c.5182C>A (p.Gln1728Lys) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001243059]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005029827] |
Chr2:27444500 [GRCh38]
Chr2:27667367 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4868C>T (p.Thr1623Ile) |
single nucleotide variant |
IFT172-related disorder [RCV004738202]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001227918]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005029791] |
Chr2:27445791 [GRCh38]
Chr2:27668658 [GRCh37]
Chr2:2p23.3 |
likely pathogenic|uncertain significance |
| NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile) |
single nucleotide variant |
IFT172-related disorder [RCV004738130]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001046263]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002505580]|not provided [RCV001759968] |
Chr2:27445933 [GRCh38]
Chr2:27668800 [GRCh37]
Chr2:2p23.3 |
likely benign|uncertain significance |
| NM_015662.3(IFT172):c.4660-120del |
deletion |
not provided [RCV001656282] |
Chr2:27446475 [GRCh38]
Chr2:27669342 [GRCh37]
Chr2:2p23.3 |
benign |
| GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 |
copy number gain |
See cases [RCV001581099] |
Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21 |
pathogenic |
| NC_000002.12:g.27444241G>A |
single nucleotide variant |
not provided [RCV001583178] |
Chr2:27444241 [GRCh38]
Chr2:27667108 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4755+125_4755+127del |
microsatellite |
not provided [RCV001672187] |
Chr2:27446133..27446135 [GRCh38]
Chr2:27669000..27669002 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_015662.3(IFT172):c.4960A>G (p.Met1654Val) |
single nucleotide variant |
IFT172-related disorder [RCV004553583]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001046318]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002479285] |
Chr2:27445404 [GRCh38]
Chr2:27668271 [GRCh37]
Chr2:2p23.3 |
likely benign|uncertain significance |
| NM_015662.3(IFT172):c.4793A>G (p.Asn1598Ser) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001212552] |
Chr2:27445951 [GRCh38]
Chr2:27668818 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4921G>A (p.Glu1641Lys) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001233091] |
Chr2:27445443 [GRCh38]
Chr2:27668310 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys) |
single nucleotide variant |
IFT172-related disorder [RCV004548184]|Inborn genetic diseases [RCV004035888]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001339234]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002476565] |
Chr2:27445368 [GRCh38]
Chr2:27668235 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5128G>A (p.Asp1710Asn) |
single nucleotide variant |
IFT172-related disorder [RCV004548148]|Inborn genetic diseases [RCV004036329]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001304875]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005029889] |
Chr2:27445046 [GRCh38]
Chr2:27667913 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5033G>A (p.Ser1678Asn) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001298726]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005029871] |
Chr2:27445331 [GRCh38]
Chr2:27668198 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5050C>T (p.Leu1684=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001423141] |
Chr2:27445314 [GRCh38]
Chr2:27668181 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4853del (p.Ser1618fs) |
deletion |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001383298] |
Chr2:27445806 [GRCh38]
Chr2:27668673 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| NM_015662.3(IFT172):c.5000G>A (p.Arg1667His) |
single nucleotide variant |
IFT172-related disorder [RCV004550085]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001362684]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005023088] |
Chr2:27445364 [GRCh38]
Chr2:27668231 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5159A>G (p.Lys1720Arg) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001343911] |
Chr2:27445015 [GRCh38]
Chr2:27667882 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5029G>T (p.Ala1677Ser) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001300379] |
Chr2:27445335 [GRCh38]
Chr2:27668202 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4988C>T (p.Pro1663Leu) |
single nucleotide variant |
Retinal dystrophy [RCV004815421]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001346039]|not provided [RCV001796881] |
Chr2:27445376 [GRCh38]
Chr2:27668243 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4908T>G (p.His1636Gln) |
single nucleotide variant |
IFT172-related disorder [RCV004727091]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001296225]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002504433]|not provided [RCV001699778] |
Chr2:27445751 [GRCh38]
Chr2:27668618 [GRCh37]
Chr2:2p23.3 |
likely benign|uncertain significance |
| NM_015662.3(IFT172):c.4867A>G (p.Thr1623Ala) |
single nucleotide variant |
IFT172-related disorder [RCV004548183]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001339137]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002493741] |
Chr2:27445792 [GRCh38]
Chr2:27668659 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4773C>G (p.Asn1591Lys) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001324890] |
Chr2:27445971 [GRCh38]
Chr2:27668838 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4813G>A (p.Asp1605Asn) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001362541]|not provided [RCV001751714] |
Chr2:27445931 [GRCh38]
Chr2:27668798 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5068G>C (p.Gly1690Arg) |
single nucleotide variant |
IFT172-related disorder [RCV004548138]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001299360]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005029875] |
Chr2:27445296 [GRCh38]
Chr2:27668163 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4944G>C (p.Trp1648Cys) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001309067] |
Chr2:27445420 [GRCh38]
Chr2:27668287 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4937G>A (p.Arg1646Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002541851]|Retinal dystrophy [RCV003887994]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001298116]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002476384]|not provided [RCV004692430] |
Chr2:27445427 [GRCh38]
Chr2:27668294 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4776G>A (p.Met1592Ile) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001327500]|not provided [RCV003327505] |
Chr2:27445968 [GRCh38]
Chr2:27668835 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4673C>T (p.Ala1558Val) |
single nucleotide variant |
IFT172-related disorder [RCV004738264]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001352172]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002476619] |
Chr2:27446342 [GRCh38]
Chr2:27669209 [GRCh37]
Chr2:2p23.3 |
likely benign|uncertain significance |
| NM_015662.3(IFT172):c.4816-8T>C |
single nucleotide variant |
IFT172-related disorder [RCV004550148]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001424303] |
Chr2:27445851 [GRCh38]
Chr2:27668718 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys) |
single nucleotide variant |
IFT172-related disorder [RCV004550194]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001450661]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002495637] |
Chr2:27445050 [GRCh38]
Chr2:27667917 [GRCh37]
Chr2:2p23.3 |
likely benign|uncertain significance |
| NM_015662.3(IFT172):c.4755+9G>A |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001502557] |
Chr2:27446251 [GRCh38]
Chr2:27669118 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4815+10G>A |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001500350] |
Chr2:27445919 [GRCh38]
Chr2:27668786 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5069-2A>G |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001379241] |
Chr2:27445107 [GRCh38]
Chr2:27667974 [GRCh37]
Chr2:2p23.3 |
likely pathogenic |
| NM_015662.3(IFT172):c.4812C>G (p.Thr1604=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001447479]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002495630] |
Chr2:27445932 [GRCh38]
Chr2:27668799 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4789dup (p.Leu1597fs) |
duplication |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001386730]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005023147] |
Chr2:27445954..27445955 [GRCh38]
Chr2:27668821..27668822 [GRCh37]
Chr2:2p23.3 |
pathogenic|likely pathogenic |
| NM_015662.3(IFT172):c.5161-140CAAA[3] |
microsatellite |
not provided [RCV001679698] |
Chr2:27444653..27444654 [GRCh38]
Chr2:27667520..27667521 [GRCh37]
Chr2:2p23.3 |
benign |
| NC_000002.12:g.27444317G>A |
single nucleotide variant |
not provided [RCV001619587] |
Chr2:27444317 [GRCh38]
Chr2:27667184 [GRCh37]
Chr2:2p23.3 |
benign |
| NM_015662.3(IFT172):c.4816-9_4816-8del |
microsatellite |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001479675] |
Chr2:27445851..27445852 [GRCh38]
Chr2:27668718..27668719 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4680_4683del (p.Ser1561fs) |
deletion |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001383779] |
Chr2:27446332..27446335 [GRCh38]
Chr2:27669199..27669202 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| NM_015662.3(IFT172):c.5010C>T (p.Tyr1670=) |
single nucleotide variant |
IFT172-related disorder [RCV004738284]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001398597] |
Chr2:27445354 [GRCh38]
Chr2:27668221 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4732T>G (p.Tyr1578Asp) |
single nucleotide variant |
not provided [RCV001761100] |
Chr2:27446283 [GRCh38]
Chr2:27669150 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4759G>A (p.Val1587Ile) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003101555]|not provided [RCV002272115] |
Chr2:27445985 [GRCh38]
Chr2:27668852 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5008T>C (p.Tyr1670His) |
single nucleotide variant |
Retinal dystrophy [RCV004816128]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005023585] |
Chr2:27445356 [GRCh38]
Chr2:27668223 [GRCh37]
Chr2:2p23.3 |
likely pathogenic|uncertain significance |
| NC_000002.11:g.(?_27667299)_(27677547_?)dup |
duplication |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001988015] |
Chr2:27667299..27677547 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5188G>A (p.Val1730Met) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002046873] |
Chr2:27444494 [GRCh38]
Chr2:27667361 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4815+2_4815+3del |
microsatellite |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002032074] |
Chr2:27445926..27445927 [GRCh38]
Chr2:27668793..27668794 [GRCh37]
Chr2:2p23.3 |
likely pathogenic |
| NM_015662.3(IFT172):c.5207_5209del (p.Gln1736_Trp1737delinsArg) |
deletion |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002040411] |
Chr2:27444473..27444475 [GRCh38]
Chr2:27667340..27667342 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5068+3A>G |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002016820] |
Chr2:27445293 [GRCh38]
Chr2:27668160 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5170A>G (p.Ser1724Gly) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002024079] |
Chr2:27444512 [GRCh38]
Chr2:27667379 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5160+6A>G |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002041942] |
Chr2:27445008 [GRCh38]
Chr2:27667875 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5036C>G (p.Thr1679Ser) |
single nucleotide variant |
IFT172-related disorder [RCV004738499]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002020724] |
Chr2:27445328 [GRCh38]
Chr2:27668195 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5024T>C (p.Val1675Ala) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001989586] |
Chr2:27445340 [GRCh38]
Chr2:27668207 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5228G>C (p.Ser1743Thr) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001889758] |
Chr2:27444454 [GRCh38]
Chr2:27667321 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5053C>T (p.Pro1685Ser) |
single nucleotide variant |
IFT172-related disorder [RCV004552138]|Inborn genetic diseases [RCV004631869]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001953932]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005025536] |
Chr2:27445311 [GRCh38]
Chr2:27668178 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4760T>C (p.Val1587Ala) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001902607] |
Chr2:27445984 [GRCh38]
Chr2:27668851 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4975G>C (p.Glu1659Gln) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001907280] |
Chr2:27445389 [GRCh38]
Chr2:27668256 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5015C>G (p.Ala1672Gly) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001882076] |
Chr2:27445349 [GRCh38]
Chr2:27668216 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4914G>A (p.Pro1638=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001884906] |
Chr2:27445745 [GRCh38]
Chr2:27668612 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4847A>G (p.Asp1616Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004631794]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001889503] |
Chr2:27445812 [GRCh38]
Chr2:27668679 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4981G>A (p.Val1661Ile) |
single nucleotide variant |
IFT172-related disorder [RCV004552074]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001892037] |
Chr2:27445383 [GRCh38]
Chr2:27668250 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001962945]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002497875] |
Chr2:27445320 [GRCh38]
Chr2:27668187 [GRCh37]
Chr2:2p23.3 |
pathogenic|likely pathogenic |
| NM_015662.3(IFT172):c.5104C>T (p.Arg1702Trp) |
single nucleotide variant |
Retinal dystrophy [RCV003888374]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001922303]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002506953] |
Chr2:27445070 [GRCh38]
Chr2:27667937 [GRCh37]
Chr2:2p23.3 |
likely benign|uncertain significance |
| NM_015662.3(IFT172):c.5041G>A (p.Val1681Ile) |
single nucleotide variant |
Retinal dystrophy [RCV004816771]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001957569] |
Chr2:27445323 [GRCh38]
Chr2:27668190 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4932_4940del (p.Glu1644_Arg1646del) |
deletion |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001904884]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002482504] |
Chr2:27445424..27445432 [GRCh38]
Chr2:27668291..27668299 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4876_4878dup (p.Pro1626_Phe1627insPro) |
duplication |
Inborn genetic diseases [RCV002556344]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001943316] |
Chr2:27445780..27445781 [GRCh38]
Chr2:27668647..27668648 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4998G>T (p.Glu1666Asp) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001908283] |
Chr2:27445366 [GRCh38]
Chr2:27668233 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4909G>A (p.Val1637Ile) |
single nucleotide variant |
IFT172-related disorder [RCV004552103]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001910073]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005023428]|not provided [RCV003490931] |
Chr2:27445750 [GRCh38]
Chr2:27668617 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5005G>A (p.Ala1669Thr) |
single nucleotide variant |
IFT172-related disorder [RCV004738448]|Inborn genetic diseases [RCV002561337]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001928954] |
Chr2:27445359 [GRCh38]
Chr2:27668226 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4997A>G (p.Glu1666Gly) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001906602] |
Chr2:27445367 [GRCh38]
Chr2:27668234 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5245C>G (p.Gln1749Glu) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001968419] |
Chr2:27444437 [GRCh38]
Chr2:27667304 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5170A>C (p.Ser1724Arg) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001911602] |
Chr2:27444512 [GRCh38]
Chr2:27667379 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4816-6C>T |
single nucleotide variant |
IFT172-related disorder [RCV004553737]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002109528] |
Chr2:27445849 [GRCh38]
Chr2:27668716 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5161-20G>A |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002087017]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002498088] |
Chr2:27444541 [GRCh38]
Chr2:27667408 [GRCh37]
Chr2:2p23.3 |
benign|likely benign |
| NM_015662.3(IFT172):c.4878C>T (p.Pro1626=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002087772] |
Chr2:27445781 [GRCh38]
Chr2:27668648 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4815+12A>G |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002114905] |
Chr2:27445917 [GRCh38]
Chr2:27668784 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4756-17A>T |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002137050] |
Chr2:27446005 [GRCh38]
Chr2:27668872 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4815+16G>C |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002151527] |
Chr2:27445913 [GRCh38]
Chr2:27668780 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4915-17C>T |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002086010] |
Chr2:27445466 [GRCh38]
Chr2:27668333 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5106G>A (p.Arg1702=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002187513] |
Chr2:27445068 [GRCh38]
Chr2:27667935 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4812C>T (p.Thr1604=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002118893] |
Chr2:27445932 [GRCh38]
Chr2:27668799 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5160+13G>A |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002113709] |
Chr2:27445001 [GRCh38]
Chr2:27667868 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4893C>A (p.Leu1631=) |
single nucleotide variant |
IFT172-related disorder [RCV004553733]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002115226] |
Chr2:27445766 [GRCh38]
Chr2:27668633 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5049C>G (p.Ala1683=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002171084] |
Chr2:27445315 [GRCh38]
Chr2:27668182 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4689A>G (p.Ser1563=) |
single nucleotide variant |
IFT172-related disorder [RCV004548220]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002171750] |
Chr2:27446326 [GRCh38]
Chr2:27669193 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4749T>A (p.Ala1583=) |
single nucleotide variant |
IFT172-related disorder [RCV004738551]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002180931] |
Chr2:27446266 [GRCh38]
Chr2:27669133 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4815+19C>T |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002186500] |
Chr2:27445910 [GRCh38]
Chr2:27668777 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4950T>G (p.Leu1650=) |
single nucleotide variant |
Retinal dystrophy [RCV003889044]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002103182] |
Chr2:27445414 [GRCh38]
Chr2:27668281 [GRCh37]
Chr2:2p23.3 |
likely benign|uncertain significance |
| NM_015662.3(IFT172):c.4755+11del |
deletion |
IFT172-related disorder [RCV004738518]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002198252] |
Chr2:27446249 [GRCh38]
Chr2:27669116 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5161-12A>G |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002217138] |
Chr2:27444533 [GRCh38]
Chr2:27667400 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4914+13G>T |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002217780] |
Chr2:27445732 [GRCh38]
Chr2:27668599 [GRCh37]
Chr2:2p23.3 |
likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NC_000002.11:g.(?_24443763)_(30143525_?)dup |
duplication |
not provided [RCV003113441] |
Chr2:24443763..30143525 [GRCh37]
Chr2:2p23.3-23.1 |
uncertain significance |
| GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 |
copy number loss |
See cases [RCV002287563] |
Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13 |
pathogenic |
| NM_173853.4(KRTCAP3):c.306C>A (p.Asn102Lys) |
single nucleotide variant |
not specified [RCV004191954] |
Chr2:27443106 [GRCh38]
Chr2:27665973 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4874T>G (p.Ile1625Ser) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002299925] |
Chr2:27445785 [GRCh38]
Chr2:27668652 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5068+14C>T |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002731628] |
Chr2:27445282 [GRCh38]
Chr2:27668149 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5080C>G (p.Leu1694Val) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003014388] |
Chr2:27445094 [GRCh38]
Chr2:27667961 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5044C>G (p.Arg1682Gly) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002636190] |
Chr2:27445320 [GRCh38]
Chr2:27668187 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_173853.4(KRTCAP3):c.701C>T (p.Ala234Val) |
single nucleotide variant |
not specified [RCV004139363] |
Chr2:27444034 [GRCh38]
Chr2:27666901 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4914+20A>G |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002866087] |
Chr2:27445725 [GRCh38]
Chr2:27668592 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5160+16T>G |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002948294] |
Chr2:27444998 [GRCh38]
Chr2:27667865 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4756-20G>T |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002947588] |
Chr2:27446008 [GRCh38]
Chr2:27668875 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_173853.4(KRTCAP3):c.62T>C (p.Val21Ala) |
single nucleotide variant |
not specified [RCV004106135] |
Chr2:27442612 [GRCh38]
Chr2:27665479 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_173853.4(KRTCAP3):c.371G>A (p.Gly124Asp) |
single nucleotide variant |
not specified [RCV004222888] |
Chr2:27443171 [GRCh38]
Chr2:27666038 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5116G>A (p.Ala1706Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004634199]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002640435] |
Chr2:27445058 [GRCh38]
Chr2:27667925 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5082G>C (p.Leu1694=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002800315] |
Chr2:27445092 [GRCh38]
Chr2:27667959 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4692C>T (p.Leu1564=) |
single nucleotide variant |
IFT172-related disorder [RCV004550420]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002591813] |
Chr2:27446323 [GRCh38]
Chr2:27669190 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_173853.4(KRTCAP3):c.262C>A (p.Arg88Ser) |
single nucleotide variant |
not specified [RCV004157725] |
Chr2:27442890 [GRCh38]
Chr2:27665757 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_173853.4(KRTCAP3):c.41G>T (p.Gly14Val) |
single nucleotide variant |
not specified [RCV004124599] |
Chr2:27442591 [GRCh38]
Chr2:27665458 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4912C>T (p.Pro1638Ser) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002706268] |
Chr2:27445747 [GRCh38]
Chr2:27668614 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4816-5T>C |
single nucleotide variant |
IFT172-related disorder [RCV004738607]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002736464] |
Chr2:27445848 [GRCh38]
Chr2:27668715 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5105G>A (p.Arg1702Gln) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002570279] |
Chr2:27445069 [GRCh38]
Chr2:27667936 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4915-5T>G |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002637655] |
Chr2:27445454 [GRCh38]
Chr2:27668321 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5159A>C (p.Lys1720Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002822280] |
Chr2:27445015 [GRCh38]
Chr2:27667882 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4743C>G (p.Gly1581=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002948602] |
Chr2:27446272 [GRCh38]
Chr2:27669139 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4756-15T>A |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003077896] |
Chr2:27446003 [GRCh38]
Chr2:27668870 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4914+7G>A |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002695198] |
Chr2:27445738 [GRCh38]
Chr2:27668605 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5093T>C (p.Ile1698Thr) |
single nucleotide variant |
IFT172-related disorder [RCV004550429]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002596193] |
Chr2:27445081 [GRCh38]
Chr2:27667948 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4668G>T (p.Val1556=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002875657] |
Chr2:27446347 [GRCh38]
Chr2:27669214 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5160+15C>T |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003007339] |
Chr2:27444999 [GRCh38]
Chr2:27667866 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4915-5T>C |
single nucleotide variant |
IFT172-related disorder [RCV004738617]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002829680] |
Chr2:27445454 [GRCh38]
Chr2:27668321 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4780T>C (p.Phe1594Leu) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003043534] |
Chr2:27445964 [GRCh38]
Chr2:27668831 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5161-5C>G |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002624130]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005028287] |
Chr2:27444526 [GRCh38]
Chr2:27667393 [GRCh37]
Chr2:2p23.3 |
likely benign|uncertain significance |
| NM_015662.3(IFT172):c.5229C>A (p.Ser1743Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002802710] |
Chr2:27444453 [GRCh38]
Chr2:27667320 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4703C>T (p.Thr1568Ile) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003039892] |
Chr2:27446312 [GRCh38]
Chr2:27669179 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4660-5C>T |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002893915] |
Chr2:27446360 [GRCh38]
Chr2:27669227 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4733A>G (p.Tyr1578Cys) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002676048] |
Chr2:27446282 [GRCh38]
Chr2:27669149 [GRCh37]
Chr2:2p23.3 |
likely pathogenic |
| NM_015662.3(IFT172):c.4815+20C>G |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002631190] |
Chr2:27445909 [GRCh38]
Chr2:27668776 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5018C>T (p.Ser1673Phe) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002938843] |
Chr2:27445346 [GRCh38]
Chr2:27668213 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_173853.4(KRTCAP3):c.289G>A (p.Ala97Thr) |
single nucleotide variant |
not specified [RCV004195319] |
Chr2:27443089 [GRCh38]
Chr2:27665956 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5120C>T (p.Ala1707Val) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003063598]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005028177]|not provided [RCV003327583] |
Chr2:27445054 [GRCh38]
Chr2:27667921 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4755+20G>C |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002895615] |
Chr2:27446240 [GRCh38]
Chr2:27669107 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5160+14A>G |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003029155] |
Chr2:27445000 [GRCh38]
Chr2:27667867 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5069-20C>A |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002671257] |
Chr2:27445125 [GRCh38]
Chr2:27667992 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4842C>T (p.Gly1614=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002627838] |
Chr2:27445817 [GRCh38]
Chr2:27668684 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4697G>A (p.Arg1566His) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003065732]|not specified [RCV005059143] |
Chr2:27446318 [GRCh38]
Chr2:27669185 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_173853.4(KRTCAP3):c.593G>A (p.Arg198Lys) |
single nucleotide variant |
not specified [RCV004130900] |
Chr2:27443510 [GRCh38]
Chr2:27666377 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4756-20G>C |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002681071] |
Chr2:27446008 [GRCh38]
Chr2:27668875 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4966C>T (p.Gln1656Ter) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003052437] |
Chr2:27445398 [GRCh38]
Chr2:27668265 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| NM_015662.3(IFT172):c.4914+1G>A |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003049497]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005028132] |
Chr2:27445744 [GRCh38]
Chr2:27668611 [GRCh37]
Chr2:2p23.3 |
likely pathogenic |
| NM_015662.3(IFT172):c.5160+12_5160+14del |
microsatellite |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003093591] |
Chr2:27445000..27445002 [GRCh38]
Chr2:27667867..27667869 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5204G>A (p.Ser1735Asn) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002634028] |
Chr2:27444478 [GRCh38]
Chr2:27667345 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_173853.4(KRTCAP3):c.337C>T (p.Leu113Phe) |
single nucleotide variant |
not specified [RCV004084165] |
Chr2:27443137 [GRCh38]
Chr2:27666004 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4676G>A (p.Arg1559Lys) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003049669] |
Chr2:27446339 [GRCh38]
Chr2:27669206 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_173853.4(KRTCAP3):c.670C>G (p.Gln224Glu) |
single nucleotide variant |
not specified [RCV004287430] |
Chr2:27444003 [GRCh38]
Chr2:27666870 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_173853.4(KRTCAP3):c.208C>G (p.Leu70Val) |
single nucleotide variant |
not specified [RCV004270300] |
Chr2:27442758 [GRCh38]
Chr2:27665625 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4964A>G (p.Asp1655Gly) |
single nucleotide variant |
IFT172-related disorder [RCV004552524]|not provided [RCV004763684] |
Chr2:27445400 [GRCh38]
Chr2:27668267 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_173853.4(KRTCAP3):c.600C>A (p.Asp200Glu) |
single nucleotide variant |
not specified [RCV004352219] |
Chr2:27443517 [GRCh38]
Chr2:27666384 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4934T>C (p.Val1645Ala) |
single nucleotide variant |
IFT172-related disorder [RCV004548659]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005030011] |
Chr2:27445430 [GRCh38]
Chr2:27668297 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4756-13T>C |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003794794] |
Chr2:27446001 [GRCh38]
Chr2:27668868 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NC_000002.12:g.27444516_27444526del |
deletion |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003807242] |
Chr2:27444511..27444521 [GRCh38]
Chr2:27667378..27667388 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| NM_015662.3(IFT172):c.4815+1G>A |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003790902] |
Chr2:27445928 [GRCh38]
Chr2:27668795 [GRCh37]
Chr2:2p23.3 |
likely pathogenic |
| NM_015662.3(IFT172):c.4756-17A>C |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003783108] |
Chr2:27446005 [GRCh38]
Chr2:27668872 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4915-16T>A |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003783970] |
Chr2:27445465 [GRCh38]
Chr2:27668332 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4936C>T (p.Arg1646Ter) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003786730] |
Chr2:27445428 [GRCh38]
Chr2:27668295 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| NM_015662.3(IFT172):c.4756-5T>C |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003781405] |
Chr2:27445993 [GRCh38]
Chr2:27668860 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4756-6C>G |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003788739] |
Chr2:27445994 [GRCh38]
Chr2:27668861 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5161-5C>T |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003792431] |
Chr2:27444526 [GRCh38]
Chr2:27667393 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4756-9T>G |
single nucleotide variant |
IFT172-related disorder [RCV004736653]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003788164] |
Chr2:27445997 [GRCh38]
Chr2:27668864 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4815+10del |
deletion |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003786787] |
Chr2:27445919 [GRCh38]
Chr2:27668786 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4851C>T (p.His1617=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003808858] |
Chr2:27445808 [GRCh38]
Chr2:27668675 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5154C>T (p.Ala1718=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003800971] |
Chr2:27445020 [GRCh38]
Chr2:27667887 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5142A>G (p.Lys1714=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003815633] |
Chr2:27445032 [GRCh38]
Chr2:27667899 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5236T>C (p.Phe1746Leu) |
single nucleotide variant |
Retinal dystrophy [RCV003890652] |
Chr2:27444446 [GRCh38]
Chr2:27667313 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5137A>G (p.Asn1713Asp) |
single nucleotide variant |
IFT172-related disorder [RCV004554550] |
Chr2:27445037 [GRCh38]
Chr2:27667904 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 |
copy number gain |
See cases [RCV004442780] |
Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3 |
pathogenic |
| NM_015662.3(IFT172):c.5033G>C (p.Ser1678Thr) |
single nucleotide variant |
Retinal dystrophy [RCV003890653] |
Chr2:27445331 [GRCh38]
Chr2:27668198 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4819A>G (p.Ile1607Val) |
single nucleotide variant |
IFT172-related disorder [RCV004548857] |
Chr2:27445840 [GRCh38]
Chr2:27668707 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4715C>G (p.Pro1572Arg) |
single nucleotide variant |
Retinal dystrophy [RCV003890655] |
Chr2:27446300 [GRCh38]
Chr2:27669167 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4925G>C (p.Arg1642Thr) |
single nucleotide variant |
Retinal dystrophy [RCV003890654] |
Chr2:27445439 [GRCh38]
Chr2:27668306 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4696C>T (p.Arg1566Cys) |
single nucleotide variant |
IFT172-related disorder [RCV004550990] |
Chr2:27446319 [GRCh38]
Chr2:27669186 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NC_000002.11:g.(?_27667299)_(27677547_?)del |
deletion |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV004583690] |
Chr2:27667299..27677547 [GRCh37]
Chr2:2p23.3 |
pathogenic |
| NM_173853.4(KRTCAP3):c.380G>A (p.Arg127His) |
single nucleotide variant |
not specified [RCV004633790] |
Chr2:27443180 [GRCh38]
Chr2:27666047 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4821C>T (p.Ile1607=) |
single nucleotide variant |
IFT172-related disorder [RCV004737019] |
Chr2:27445838 [GRCh38]
Chr2:27668705 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_173853.4(KRTCAP3):c.318C>T (p.Ser106=) |
single nucleotide variant |
not specified [RCV004938000] |
Chr2:27443118 [GRCh38]
Chr2:27665985 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4788C>T (p.Phe1596=) |
single nucleotide variant |
IFT172-related disorder [RCV004736907] |
Chr2:27445956 [GRCh38]
Chr2:27668823 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5188G>T (p.Val1730Leu) |
single nucleotide variant |
IFT172-related disorder [RCV004736995] |
Chr2:27444494 [GRCh38]
Chr2:27667361 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4969C>T (p.Arg1657Trp) |
single nucleotide variant |
IFT172-related disorder [RCV004736722]|Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005023667] |
Chr2:27445395 [GRCh38]
Chr2:27668262 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4660-9T>C |
single nucleotide variant |
IFT172-related disorder [RCV004737630] |
Chr2:27446364 [GRCh38]
Chr2:27669231 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4977G>A (p.Glu1659=) |
single nucleotide variant |
IFT172-related disorder [RCV004729678] |
Chr2:27445387 [GRCh38]
Chr2:27668254 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4663A>T (p.Thr1555Ser) |
single nucleotide variant |
IFT172-related disorder [RCV004736713] |
Chr2:27446352 [GRCh38]
Chr2:27669219 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4664C>G (p.Thr1555Ser) |
single nucleotide variant |
IFT172-related disorder [RCV004736724] |
Chr2:27446351 [GRCh38]
Chr2:27669218 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5171G>T (p.Ser1724Ile) |
single nucleotide variant |
IFT172-related disorder [RCV004737031] |
Chr2:27444511 [GRCh38]
Chr2:27667378 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5070A>G (p.Gly1690=) |
single nucleotide variant |
IFT172-related disorder [RCV004737656] |
Chr2:27445104 [GRCh38]
Chr2:27667971 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5015C>A (p.Ala1672Asp) |
single nucleotide variant |
IFT172-related disorder [RCV004726560] |
Chr2:27445349 [GRCh38]
Chr2:27668216 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4771A>G (p.Asn1591Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004987695] |
Chr2:27445973 [GRCh38]
Chr2:27668840 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4885G>A (p.Val1629Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004987694] |
Chr2:27445774 [GRCh38]
Chr2:27668641 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4688C>T (p.Ser1563Leu) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005024411] |
Chr2:27446327 [GRCh38]
Chr2:27669194 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4660-12C>G |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005024412] |
Chr2:27446367 [GRCh38]
Chr2:27669234 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| GRCh37/hg19 2p24.1-22.2(chr2:20938401-37327210)x3 |
copy number gain |
not provided [RCV004819299] |
Chr2:20938401..37327210 [GRCh37]
Chr2:2p24.1-22.2 |
pathogenic |
| GRCh37/hg19 2p23.3(chr2:26532939-27839111)x3 |
copy number gain |
not provided [RCV004819441] |
Chr2:26532939..27839111 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5069-5C>T |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005212579] |
Chr2:27445110 [GRCh38]
Chr2:27667977 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5028A>T (p.Ala1676=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005214589] |
Chr2:27445336 [GRCh38]
Chr2:27668203 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_173853.4(KRTCAP3):c.37C>T (p.Arg13Trp) |
single nucleotide variant |
not specified [RCV004934783] |
Chr2:27442587 [GRCh38]
Chr2:27665454 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5004C>T (p.Gly1668=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005210993] |
Chr2:27445360 [GRCh38]
Chr2:27668227 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4833T>A (p.Thr1611=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005210864] |
Chr2:27445826 [GRCh38]
Chr2:27668693 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5103G>A (p.Lys1701=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005226467] |
Chr2:27445071 [GRCh38]
Chr2:27667938 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5160+10G>A |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005209820] |
Chr2:27445004 [GRCh38]
Chr2:27667871 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5161-11T>C |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005216908] |
Chr2:27444532 [GRCh38]
Chr2:27667399 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.5220G>A (p.Gly1740=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005220202] |
Chr2:27444462 [GRCh38]
Chr2:27667329 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_015662.3(IFT172):c.4915-14_4915-12del |
microsatellite |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005024408] |
Chr2:27445461..27445463 [GRCh38]
Chr2:27668328..27668330 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 |
copy number loss |
See cases [RCV000142071] |
Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2 |
pathogenic |
| GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 |
copy number gain |
not provided [RCV000752875] |
Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_015662.3(IFT172):c.4822G>A (p.Glu1608Lys) |
single nucleotide variant |
not provided [RCV003123194] |
Chr2:27445837 [GRCh38]
Chr2:27668704 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4775T>C (p.Met1592Thr) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001302362] |
Chr2:27445969 [GRCh38]
Chr2:27668836 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NC_000002.11:g.(?_24443763)_(27746306_?)dup |
duplication |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001911738] |
Chr2:24443763..27746306 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NC_000002.11:g.(?_24443763)_(29022169_?)dup |
duplication |
Tatton-Brown-Rahman overgrowth syndrome [RCV003113871]|not provided [RCV003113870] |
Chr2:24443763..29022169 [GRCh37]
Chr2:2p23.3-23.2 |
uncertain significance|no classifications from unflagged records |
| NM_015662.3(IFT172):c.4913C>T (p.Pro1638Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002859317] |
Chr2:27445746 [GRCh38]
Chr2:27668613 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4902G>A (p.Lys1634=) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV002846939] |
Chr2:27445757 [GRCh38]
Chr2:27668624 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_173853.4(KRTCAP3):c.562G>A (p.Ala188Thr) |
single nucleotide variant |
not specified [RCV004260520] |
Chr2:27443479 [GRCh38]
Chr2:27666346 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_173853.4(KRTCAP3):c.611G>A (p.Gly204Glu) |
single nucleotide variant |
not specified [RCV004348486] |
Chr2:27443528 [GRCh38]
Chr2:27666395 [GRCh37]
Chr2:2p23.3 |
likely benign |
| NM_173853.4(KRTCAP3):c.109G>T (p.Ala37Ser) |
single nucleotide variant |
not specified [RCV004360334] |
Chr2:27442659 [GRCh38]
Chr2:27665526 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4891C>T (p.Leu1631Phe) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV003785529] |
Chr2:27445768 [GRCh38]
Chr2:27668635 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4970G>A (p.Arg1657Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004400291]|not provided [RCV004784201] |
Chr2:27445394 [GRCh38]
Chr2:27668261 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4941C>G (p.Asp1647Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004400290] |
Chr2:27445423 [GRCh38]
Chr2:27668290 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_173853.4(KRTCAP3):c.124A>G (p.Thr42Ala) |
single nucleotide variant |
not specified [RCV004407000] |
Chr2:27442674 [GRCh38]
Chr2:27665541 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_173853.4(KRTCAP3):c.203C>T (p.Ser68Leu) |
single nucleotide variant |
not specified [RCV004407001] |
Chr2:27442753 [GRCh38]
Chr2:27665620 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_173853.4(KRTCAP3):c.350T>G (p.Val117Gly) |
single nucleotide variant |
not specified [RCV004407003] |
Chr2:27443150 [GRCh38]
Chr2:27666017 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_173853.4(KRTCAP3):c.437G>A (p.Gly146Glu) |
single nucleotide variant |
not specified [RCV004407004] |
Chr2:27443237 [GRCh38]
Chr2:27666104 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_173853.4(KRTCAP3):c.61G>A (p.Val21Met) |
single nucleotide variant |
not specified [RCV004407005] |
Chr2:27442611 [GRCh38]
Chr2:27665478 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.4914+2dup |
duplication |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005024410] |
Chr2:27445742..27445743 [GRCh38]
Chr2:27668609..27668610 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5234G>T (p.Ser1745Ile) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005024403] |
Chr2:27444448 [GRCh38]
Chr2:27667315 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5195A>C (p.Lys1732Thr) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005024404] |
Chr2:27444487 [GRCh38]
Chr2:27667354 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
| NM_015662.3(IFT172):c.5020C>G (p.Leu1674Val) |
single nucleotide variant |
Short-rib thoracic dysplasia 10 with or without polydactyly [RCV005024407] |
Chr2:27445344 [GRCh38]
Chr2:27668211 [GRCh37]
Chr2:2p23.3 |
uncertain significance |
