NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV000516004]|Jeune thoracic dystrophy [RCV001304507]|TTC21B-related disorder [RCV004735583] |
Chr2:165941034 [GRCh38] Chr2:166797544 [GRCh37] Chr2:2q24.3 |
likely pathogenic|uncertain significance |
NM_024753.5(TTC21B):c.629G>A (p.Ser210Asn) |
single nucleotide variant |
Nephronophthisis 12 [RCV001331346] |
Chr2:165941108 [GRCh38] Chr2:166797618 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV000332739]|Jeune thoracic dystrophy [RCV000860057]|Nephronophthisis 12 [RCV000373358]|not provided [RCV004707989]|not specified [RCV000118729] |
Chr2:165941136 [GRCh38] Chr2:166797646 [GRCh37] Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV000386132]|Asphyxiating thoracic dystrophy 4 [RCV002490817]|Connective tissue disorder [RCV002277182]|Jeune thoracic dystrophy [RCV001086745]|Nephronophthisis 12 [RCV000296525]|not provided [RCV001573936]|not specified [RCV000118730] |
Chr2:165941072 [GRCh38] Chr2:166797582 [GRCh37] Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV000763456]|Finnish congenital nephrotic syndrome [RCV000786982]|Infantile nephronophthisis [RCV000857219]|Jeune thoracic dystrophy [RCV000685092]|Nephronophthisis 12 [RCV000023924]|Nephrotic syndrome [RCV001328175]|Renal dysplasia and retinal aplasia [RCV001003236]|Retinal dystrophy [RCV001074967]|See cases [RCV002251925]|TTC21B-related disorder [RCV004528134]|not provided [RCV000681870] |
Chr2:165941111 [GRCh38] Chr2:166797621 [GRCh37] Chr2:2q24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3 |
copy number gain |
See cases [RCV000133953] |
Chr2:164920562..167536439 [GRCh38] Chr2:165777072..168392949 [GRCh37] Chr2:165485318..168101195 [NCBI36] Chr2:2q24.3 |
pathogenic |
GRCh38/hg38 2q24.3(chr2:165542113-166137050)x3 |
copy number gain |
See cases [RCV000135461] |
Chr2:165542113..166137050 [GRCh38] Chr2:166398623..166993560 [GRCh37] Chr2:166106869..166701806 [NCBI36] Chr2:2q24.3 |
uncertain significance |
GRCh38/hg38 2q24.3(chr2:165888312-166185811)x1 |
copy number loss |
See cases [RCV000137068] |
Chr2:165888312..166185811 [GRCh38] Chr2:166744822..167042321 [GRCh37] Chr2:166453068..166750567 [NCBI36] Chr2:2q24.3 |
pathogenic|uncertain significance |
GRCh38/hg38 2q24.3(chr2:165238425-166114982)x1 |
copy number loss |
See cases [RCV000141780] |
Chr2:165238425..166114982 [GRCh38] Chr2:166094935..166971492 [GRCh37] Chr2:165803181..166679738 [NCBI36] Chr2:2q24.3 |
pathogenic |
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 |
copy number gain |
See cases [RCV000142286] |
Chr2:154294042..175989372 [GRCh38] Chr2:155150555..176854100 [GRCh37] Chr2:154858801..176562346 [NCBI36] Chr2:2q24.1-31.1 |
pathogenic |
GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1 |
copy number loss |
See cases [RCV000143388] |
Chr2:165222998..166664612 [GRCh38] Chr2:166079508..167521122 [GRCh37] Chr2:165787754..167229368 [NCBI36] Chr2:2q24.3 |
pathogenic |
GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1 |
copy number loss |
See cases [RCV000051003] |
Chr2:158382388..166605758 [GRCh38] Chr2:159238900..167462268 [GRCh37] Chr2:158947146..167170514 [NCBI36] Chr2:2q24.1-24.3 |
pathogenic |
GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 |
copy number loss |
See cases [RCV000051201] |
Chr2:164850117..175559190 [GRCh38] Chr2:165706627..176423918 [GRCh37] Chr2:165414873..176132164 [NCBI36] Chr2:2q24.3-31.1 |
pathogenic |
GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 |
copy number gain |
See cases [RCV000052950] |
Chr2:154366788..167048902 [GRCh38] Chr2:155223300..167905412 [GRCh37] Chr2:154931546..167613658 [NCBI36] Chr2:2q24.1-24.3 |
pathogenic |
GRCh38/hg38 2q24.3(chr2:165542962-166152073)x3 |
copy number gain |
See cases [RCV000052698] |
Chr2:165542962..166152073 [GRCh38] Chr2:166399472..167008583 [GRCh37] Chr2:166107718..166716829 [NCBI36] Chr2:2q24.3 |
uncertain significance |
GRCh38/hg38 2q24.3(chr2:165888312-166443535)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052699]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052699]|See cases [RCV000052699] |
Chr2:165888312..166443535 [GRCh38] Chr2:166744822..167300045 [GRCh37] Chr2:166453068..167008291 [NCBI36] Chr2:2q24.3 |
uncertain significance |
GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1 |
copy number loss |
See cases [RCV000054119] |
Chr2:163455290..166962322 [GRCh38] Chr2:164311800..167818832 [GRCh37] Chr2:164020046..167527078 [NCBI36] Chr2:2q24.3 |
pathogenic |
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 |
copy number loss |
See cases [RCV000054122] |
Chr2:163965382..182195062 [GRCh38] Chr2:164821892..183059789 [GRCh37] Chr2:164530138..182768034 [NCBI36] Chr2:2q24.3-32.1 |
pathogenic |
GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 |
copy number loss |
See cases [RCV000054123] |
Chr2:164066038..172097886 [GRCh38] Chr2:164922548..172962614 [GRCh37] Chr2:164630794..172670860 [NCBI36] Chr2:2q24.3-31.1 |
pathogenic |
GRCh38/hg38 2q24.3-31.1(chr2:165209651-169567892)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|See cases [RCV000054124] |
Chr2:165209651..169567892 [GRCh38] Chr2:166066161..170424402 [GRCh37] Chr2:165774407..170132648 [NCBI36] Chr2:2q24.3-31.1 |
pathogenic |
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV001132638]|Jeune thoracic dystrophy [RCV001087340]|Joubert syndrome 1 [RCV000986867]|Nephronophthisis 12 [RCV001132639]|TTC21B-related disorder [RCV004537489]|not provided [RCV000724482]|not specified [RCV000179530] |
Chr2:165941046 [GRCh38] Chr2:166797556 [GRCh37] Chr2:2q24.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001383380] |
Chr2:165941053 [GRCh38] Chr2:166797563 [GRCh37] Chr2:2q24.3 |
pathogenic |
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV000336979]|Jeune thoracic dystrophy [RCV001520464]|Nephronophthisis 12 [RCV000278829]|TTC21B-related disorder [RCV004537842] |
Chr2:165943290 [GRCh38] Chr2:166799800 [GRCh37] Chr2:2q24.3 |
benign|likely benign|uncertain significance |
NM_024753.5(TTC21B):c.549T>C (p.Gly183=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002058338]|not provided [RCV000725867]|not specified [RCV000249310] |
Chr2:165943222 [GRCh38] Chr2:166799732 [GRCh37] Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_024753.5(TTC21B):c.429+6T>C |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001319589]|not specified [RCV000245172] |
Chr2:165945518 [GRCh38] Chr2:166802028 [GRCh37] Chr2:2q24.3 |
likely benign|uncertain significance |
NM_024753.5(TTC21B):c.268_269insTAGA (p.Glu90fs) |
insertion |
SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY [RCV000656519] |
Chr2:165945684..165945685 [GRCh38] Chr2:166802194..166802195 [GRCh37] Chr2:2q24.3 |
pathogenic |
NC_000002.12:g.(?_165874735)_(166311776_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000539384] |
Chr2:165874735..166311776 [GRCh38] Chr2:166731245..167168286 [GRCh37] Chr2:2q24.3 |
pathogenic |
NM_024753.5(TTC21B):c.489del (p.Ala164fs) |
deletion |
not provided [RCV000722379] |
Chr2:165943282 [GRCh38] Chr2:166799792 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.588T>G (p.Gly196=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV000861968]|not provided [RCV001703599] |
Chr2:165941149 [GRCh38] Chr2:166797659 [GRCh37] Chr2:2q24.3 |
benign|likely benign |
NM_024753.5(TTC21B):c.553-2A>G |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001377359]|not provided [RCV000479541] |
Chr2:165941186 [GRCh38] Chr2:166797696 [GRCh37] Chr2:2q24.3 |
likely pathogenic |
NM_024753.5(TTC21B):c.272C>A (p.Ala91Asp) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV002489085]|Jeune thoracic dystrophy [RCV000458618]|TTC21B-related disorder [RCV004533202] |
Chr2:165945681 [GRCh38] Chr2:166802191 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.455A>C (p.Asp152Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004023405]|Jeune thoracic dystrophy [RCV001372155]|not provided [RCV003328590]|not specified [RCV000504392] |
Chr2:165943316 [GRCh38] Chr2:166799826 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NC_000002.12:g.(?_165090130)_(166228992_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636624]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387895] |
Chr2:165090130..166228992 [GRCh38] Chr2:165946640..167085502 [GRCh37] Chr2:2q24.3 |
pathogenic |
NM_024753.5(TTC21B):c.553-20C>G |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV002506462]|Jeune thoracic dystrophy [RCV001400503]|not specified [RCV000614226] |
Chr2:165941204 [GRCh38] Chr2:166797714 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg) |
single nucleotide variant |
Connective tissue disorder [RCV002279455]|Jeune thoracic dystrophy [RCV001496568]|TTC21B-related disorder [RCV004544823]|not provided [RCV000634203] |
Chr2:165943260 [GRCh38] Chr2:166799770 [GRCh37] Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_024753.5(TTC21B):c.710+87G>T |
single nucleotide variant |
not provided [RCV001645606] |
Chr2:165940940 [GRCh38] Chr2:166797450 [GRCh37] Chr2:2q24.3 |
benign |
NM_024753.5(TTC21B):c.429+258_429+261del |
microsatellite |
not provided [RCV001578269] |
Chr2:165945263..165945266 [GRCh38] Chr2:166801773..166801776 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.553-5A>C |
single nucleotide variant |
Jeune thoracic dystrophy [RCV000866701]|TTC21B-related disorder [RCV004735839]|not provided [RCV001731958] |
Chr2:165941189 [GRCh38] Chr2:166797699 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.263-10C>T |
single nucleotide variant |
not provided [RCV000905034] |
Chr2:165945700 [GRCh38] Chr2:166802210 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.318T>C (p.Ala106=) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV002501303]|Jeune thoracic dystrophy [RCV001462091] |
Chr2:165945635 [GRCh38] Chr2:166802145 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.468A>G (p.Gly156=) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV002501161]|Jeune thoracic dystrophy [RCV001088586]|not provided [RCV000828094] |
Chr2:165943303 [GRCh38] Chr2:166799813 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.453T>G (p.Leu151=) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV002489376]|Jeune thoracic dystrophy [RCV001426945] |
Chr2:165943318 [GRCh38] Chr2:166799828 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.553-295_553-294insTCC |
insertion |
not provided [RCV000826346] |
Chr2:165941478..165941479 [GRCh38] Chr2:166797988..166797989 [GRCh37] Chr2:2q24.3 |
benign |
NM_024753.5(TTC21B):c.429+152A>C |
single nucleotide variant |
not provided [RCV000829398] |
Chr2:165945372 [GRCh38] Chr2:166801882 [GRCh37] Chr2:2q24.3 |
benign |
NC_000002.12:g.(?_165090130)_(166311776_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000807258]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003117597]|Seizures, benign familial infantile, 3 [RCV003106069]|not provided [RCV003106068] |
Chr2:165090130..166311776 [GRCh38] Chr2:165946640..167168286 [GRCh37] Chr2:2q24.3 |
pathogenic|uncertain significance|no classifications from unflagged records |
NM_024753.5(TTC21B):c.553-66C>G |
single nucleotide variant |
not provided [RCV000835399] |
Chr2:165941250 [GRCh38] Chr2:166797760 [GRCh37] Chr2:2q24.3 |
likely benign |
NC_000002.11:g.(?_166152314)_(167108415_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000811357]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001372278] |
Chr2:165295804..166251905 [GRCh38] Chr2:166152314..167108415 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.592C>T (p.Leu198=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003768725]|TTC21B-related disorder [RCV004530859] |
Chr2:165941145 [GRCh38] Chr2:166797655 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.441G>A (p.Leu147=) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV002501334]|Jeune thoracic dystrophy [RCV001471471]|not provided [RCV004711347] |
Chr2:165943330 [GRCh38] Chr2:166799840 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.552+139G>A |
single nucleotide variant |
not provided [RCV000837888] |
Chr2:165943080 [GRCh38] Chr2:166799590 [GRCh37] Chr2:2q24.3 |
likely benign |
NC_000002.12:g.(?_165090130)_(166286643_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000808624]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387894] |
Chr2:165090130..166286643 [GRCh38] Chr2:165946640..167143153 [GRCh37] Chr2:2q24.3 |
pathogenic |
NM_024753.5(TTC21B):c.338A>G (p.His113Arg) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV001136012]|Asphyxiating thoracic dystrophy 4 [RCV002505709]|Jeune thoracic dystrophy [RCV001856735]|Nephronophthisis 12 [RCV001136013]|TTC21B-related disorder [RCV004538356] |
Chr2:165945615 [GRCh38] Chr2:166802125 [GRCh37] Chr2:2q24.3 |
likely benign|uncertain significance |
NM_024753.5(TTC21B):c.553-262C>G |
single nucleotide variant |
not provided [RCV001550832] |
Chr2:165941446 [GRCh38] Chr2:166797956 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.263-222A>T |
single nucleotide variant |
not provided [RCV001654813] |
Chr2:165945912 [GRCh38] Chr2:166802422 [GRCh37] Chr2:2q24.3 |
benign |
NM_024753.5(TTC21B):c.430-52A>G |
single nucleotide variant |
not provided [RCV001567325] |
Chr2:165943393 [GRCh38] Chr2:166799903 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.435C>T (p.His145=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003768755] |
Chr2:165943336 [GRCh38] Chr2:166799846 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.263-4C>A |
single nucleotide variant |
Jeune thoracic dystrophy [RCV000914760] |
Chr2:165945694 [GRCh38] Chr2:166802204 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.344G>C (p.Gly115Ala) |
single nucleotide variant |
not provided [RCV001760458] |
Chr2:165945609 [GRCh38] Chr2:166802119 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.572G>A (p.Arg191His) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV002484331]|Jeune thoracic dystrophy [RCV001242567]|TTC21B-related disorder [RCV004734075] |
Chr2:165941165 [GRCh38] Chr2:166797675 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.263-146dup |
duplication |
not provided [RCV001556057] |
Chr2:165945834..165945835 [GRCh38] Chr2:166802344..166802345 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.710+93A>T |
single nucleotide variant |
not provided [RCV001693951] |
Chr2:165940934 [GRCh38] Chr2:166797444 [GRCh37] Chr2:2q24.3 |
benign |
NM_024753.5(TTC21B):c.370_380del (p.His124fs) |
deletion |
not specified [RCV001001142] |
Chr2:165945573..165945583 [GRCh38] Chr2:166802083..166802093 [GRCh37] Chr2:2q24.3 |
pathogenic|likely pathogenic |
NM_024753.5(TTC21B):c.552+133A>G |
single nucleotide variant |
not provided [RCV001615922] |
Chr2:165943086 [GRCh38] Chr2:166799596 [GRCh37] Chr2:2q24.3 |
benign |
NM_024753.5(TTC21B):c.429+252C>G |
single nucleotide variant |
not provided [RCV001587074] |
Chr2:165945272 [GRCh38] Chr2:166801782 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.685G>A (p.Asp229Asn) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV001132640]|Nephronophthisis 12 [RCV001132641] |
Chr2:165941052 [GRCh38] Chr2:166797562 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.557A>G (p.Gln186Arg) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001871673]|not provided [RCV001812375] |
Chr2:165941180 [GRCh38] Chr2:166797690 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.263-110_263-107del |
deletion |
not provided [RCV000834293] |
Chr2:165945797..165945800 [GRCh38] Chr2:166802307..166802310 [GRCh37] Chr2:2q24.3 |
benign |
NM_024753.5(TTC21B):c.368G>A (p.Arg123His) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV001331345]|Asphyxiating thoracic dystrophy 4 [RCV002493724]|Jeune thoracic dystrophy [RCV003120555]|Nephronophthisis 12 [RCV003988867] |
Chr2:165945585 [GRCh38] Chr2:166802095 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.667C>G (p.Leu223Val) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001880186]|Nephrotic syndrome [RCV001328176] |
Chr2:165941070 [GRCh38] Chr2:166797580 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.710+19A>G |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001491563] |
Chr2:165941008 [GRCh38] Chr2:166797518 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.497del (p.Lys166fs) |
deletion |
Asphyxiating thoracic dystrophy 4 [RCV004796631]|Nephronophthisis 12 [RCV001391115] |
Chr2:165943274 [GRCh38] Chr2:166799784 [GRCh37] Chr2:2q24.3 |
pathogenic|likely pathogenic |
NM_024753.5(TTC21B):c.430-42C>T |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV001840824]|not provided [RCV001666585] |
Chr2:165943383 [GRCh38] Chr2:166799893 [GRCh37] Chr2:2q24.3 |
benign |
NM_024753.5(TTC21B):c.264_267dupTAGA |
duplication |
Asphyxiating thoracic dystrophy 4 [RCV001536012]|Bardet-Biedl syndrome 2 [RCV003339667]|Jeune thoracic dystrophy [RCV003771653] |
Chr2:165945685..165945686 [GRCh38] Chr2:166802195..166802196 [GRCh37] Chr2:2q24.3 |
pathogenic|uncertain significance |
NM_024753.5(TTC21B):c.429+110G>C |
single nucleotide variant |
not provided [RCV001693791] |
Chr2:165945414 [GRCh38] Chr2:166801924 [GRCh37] Chr2:2q24.3 |
benign |
NM_024753.5(TTC21B):c.263-91_263-90del |
deletion |
not provided [RCV001539706] |
Chr2:165945780..165945781 [GRCh38] Chr2:166802290..166802291 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.412T>C (p.Ser138Pro) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002009199] |
Chr2:165945541 [GRCh38] Chr2:166802051 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.616G>A (p.Val206Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002608096]|Jeune thoracic dystrophy [RCV001986708] |
Chr2:165941121 [GRCh38] Chr2:166797631 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.523G>A (p.Gly175Arg) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001985630] |
Chr2:165943248 [GRCh38] Chr2:166799758 [GRCh37] Chr2:2q24.3 |
likely benign|uncertain significance |
NM_024753.5(TTC21B):c.598A>G (p.Thr200Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004041221]|Jeune thoracic dystrophy [RCV001895247] |
Chr2:165941139 [GRCh38] Chr2:166797649 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.437T>G (p.Val146Gly) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV002479612]|Inborn genetic diseases [RCV003170246]|Jeune thoracic dystrophy [RCV001968880] |
Chr2:165943334 [GRCh38] Chr2:166799844 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.670G>A (p.Ala224Thr) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001986218] |
Chr2:165941067 [GRCh38] Chr2:166797577 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.308G>A (p.Arg103His) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001957216] |
Chr2:165945645 [GRCh38] Chr2:166802155 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.305A>G (p.Gln102Arg) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002018608] |
Chr2:165945648 [GRCh38] Chr2:166802158 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.550A>G (p.Lys184Glu) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001875456] |
Chr2:165943221 [GRCh38] Chr2:166799731 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.367C>T (p.Arg123Cys) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001998900] |
Chr2:165945586 [GRCh38] Chr2:166802096 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.575A>G (p.Gln192Arg) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV002484726]|Inborn genetic diseases [RCV004681347]|Jeune thoracic dystrophy [RCV001953274]|not provided [RCV003222370] |
Chr2:165941162 [GRCh38] Chr2:166797672 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.307C>T (p.Arg103Cys) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV002492314]|Jeune thoracic dystrophy [RCV002013309] |
Chr2:165945646 [GRCh38] Chr2:166802156 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.419G>A (p.Gly140Asp) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001994090]|TTC21B-related disorder [RCV004734379] |
Chr2:165945534 [GRCh38] Chr2:166802044 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.455A>G (p.Asp152Gly) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001903654] |
Chr2:165943316 [GRCh38] Chr2:166799826 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.499T>G (p.Tyr167Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002561462]|Jeune thoracic dystrophy [RCV001982309]|TTC21B-related disorder [RCV004734355] |
Chr2:165943272 [GRCh38] Chr2:166799782 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.345C>T (p.Gly115=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001924106] |
Chr2:165945608 [GRCh38] Chr2:166802118 [GRCh37] Chr2:2q24.3 |
likely benign|uncertain significance |
NM_024753.5(TTC21B):c.569T>A (p.Met190Lys) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002018472]|TTC21B-related disorder [RCV004734399] |
Chr2:165941168 [GRCh38] Chr2:166797678 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.368G>T (p.Arg123Leu) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002012276] |
Chr2:165945585 [GRCh38] Chr2:166802095 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.361A>G (p.Ile121Val) |
single nucleotide variant |
Asphyxiating thoracic dystrophy 4 [RCV002479468]|Jeune thoracic dystrophy [RCV001938740] |
Chr2:165945592 [GRCh38] Chr2:166802102 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.436G>A (p.Val146Ile) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001917303] |
Chr2:165943335 [GRCh38] Chr2:166799845 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.518A>C (p.Gln173Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002545421]|Jeune thoracic dystrophy [RCV002051444] |
Chr2:165943253 [GRCh38] Chr2:166799763 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.584C>T (p.Ser195Leu) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV001960254] |
Chr2:165941153 [GRCh38] Chr2:166797663 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.705A>G (p.Ala235=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002125849] |
Chr2:165941032 [GRCh38] Chr2:166797542 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.430-6T>G |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002145301] |
Chr2:165943347 [GRCh38] Chr2:166799857 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.263-15A>G |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002104886] |
Chr2:165945705 [GRCh38] Chr2:166802215 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.553-19T>C |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002075669] |
Chr2:165941203 [GRCh38] Chr2:166797713 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.576G>A (p.Gln192=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002125232] |
Chr2:165941161 [GRCh38] Chr2:166797671 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.291C>A (p.Ala97=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002133179] |
Chr2:165945662 [GRCh38] Chr2:166802172 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.681T>C (p.Asp227=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002125697] |
Chr2:165941056 [GRCh38] Chr2:166797566 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.552+11G>C |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002199802] |
Chr2:165943208 [GRCh38] Chr2:166799718 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.553-13del |
deletion |
Asphyxiating thoracic dystrophy 4 [RCV002498230]|Jeune thoracic dystrophy [RCV002218215] |
Chr2:165941197 [GRCh38] Chr2:166797707 [GRCh37] Chr2:2q24.3 |
benign|likely benign |
NM_024753.5(TTC21B):c.544C>T (p.Leu182=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002204487] |
Chr2:165943227 [GRCh38] Chr2:166799737 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.410T>C (p.Ile137Thr) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003115170] |
Chr2:165945543 [GRCh38] Chr2:166802053 [GRCh37] Chr2:2q24.3 |
uncertain significance |
GRCh38/hg38 2q24.3(chr2:165155128-166062451)x1 |
copy number loss |
Epilepsy of infancy with migrating focal seizures [RCV002286319] |
Chr2:165155128..166062451 [GRCh38] Chr2:2q24.3 |
pathogenic |
GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1 |
copy number loss |
West syndrome [RCV002286320] |
Chr2:165383106..167432622 [GRCh38] Chr2:2q24.3 |
pathogenic |
NM_024753.5(TTC21B):c.301G>C (p.Glu101Gln) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002727023] |
Chr2:165945652 [GRCh38] Chr2:166802162 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.615C>T (p.Ile205=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003074713] |
Chr2:165941122 [GRCh38] Chr2:166797632 [GRCh37] Chr2:2q24.3 |
likely benign |
NC_000002.12:g.165943342del |
deletion |
Jeune thoracic dystrophy [RCV002663069] |
Chr2:165943340 [GRCh38] Chr2:166799850 [GRCh37] Chr2:2q24.3 |
pathogenic |
NM_024753.5(TTC21B):c.263-16C>T |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002638235] |
Chr2:165945706 [GRCh38] Chr2:166802216 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.433del (p.His145fs) |
deletion |
Jeune thoracic dystrophy [RCV002866643] |
Chr2:165943338 [GRCh38] Chr2:166799848 [GRCh37] Chr2:2q24.3 |
pathogenic |
NM_024753.5(TTC21B):c.347T>C (p.Leu116Ser) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002622203] |
Chr2:165945606 [GRCh38] Chr2:166802116 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.676C>A (p.Gln226Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002713427] |
Chr2:165941061 [GRCh38] Chr2:166797571 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.710+17T>C |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002593557] |
Chr2:165941010 [GRCh38] Chr2:166797520 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.411A>G (p.Ile137Met) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003058417] |
Chr2:165945542 [GRCh38] Chr2:166802052 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.267A>G (p.Arg89=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002766041] |
Chr2:165945686 [GRCh38] Chr2:166802196 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.533C>G (p.Thr178Ser) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002741947] |
Chr2:165943238 [GRCh38] Chr2:166799748 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.430-5del |
deletion |
Jeune thoracic dystrophy [RCV003023025] |
Chr2:165943346 [GRCh38] Chr2:166799856 [GRCh37] Chr2:2q24.3 |
benign |
NM_024753.5(TTC21B):c.422G>A (p.Ser141Asn) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003064846] |
Chr2:165945531 [GRCh38] Chr2:166802041 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.571C>T (p.Arg191Cys) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002770095] |
Chr2:165941166 [GRCh38] Chr2:166797676 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.710+9A>G |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003065722] |
Chr2:165941018 [GRCh38] Chr2:166797528 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.407A>G (p.Lys136Arg) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002671669] |
Chr2:165945546 [GRCh38] Chr2:166802056 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.573C>T (p.Arg191=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002599539] |
Chr2:165941164 [GRCh38] Chr2:166797674 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.543G>C (p.Leu181=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002597500] |
Chr2:165943228 [GRCh38] Chr2:166799738 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.484A>G (p.Lys162Glu) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002647469] |
Chr2:165943287 [GRCh38] Chr2:166799797 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.389A>C (p.Tyr130Ser) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002833927] |
Chr2:165945564 [GRCh38] Chr2:166802074 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.553-13T>C |
single nucleotide variant |
Jeune thoracic dystrophy [RCV002578266] |
Chr2:165941197 [GRCh38] Chr2:166797707 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.389A>G (p.Tyr130Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003195881] |
Chr2:165945564 [GRCh38] Chr2:166802074 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.354A>G (p.Leu118=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003791514] |
Chr2:165945599 [GRCh38] Chr2:166802109 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.429+5C>A |
single nucleotide variant |
TTC21B-related disorder [RCV004531688] |
Chr2:165945519 [GRCh38] Chr2:166802029 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.430-6T>C |
single nucleotide variant |
TTC21B-related disorder [RCV004529327] |
Chr2:165943347 [GRCh38] Chr2:166799857 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.333A>T (p.Leu111Phe) |
single nucleotide variant |
TTC21B-related disorder [RCV004531560] |
Chr2:165945620 [GRCh38] Chr2:166802130 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.553-10C>T |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003807904] |
Chr2:165941194 [GRCh38] Chr2:166797704 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.594G>A (p.Leu198=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003796351] |
Chr2:165941143 [GRCh38] Chr2:166797653 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.645T>C (p.Phe215=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003782302] |
Chr2:165941092 [GRCh38] Chr2:166797602 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.497A>G (p.Lys166Arg) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003790157] |
Chr2:165943274 [GRCh38] Chr2:166799784 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.384G>A (p.Arg128=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003804221] |
Chr2:165945569 [GRCh38] Chr2:166802079 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.330C>T (p.Ala110=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003792916] |
Chr2:165945623 [GRCh38] Chr2:166802133 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.432A>G (p.Gly144=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003797104] |
Chr2:165943339 [GRCh38] Chr2:166799849 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.553-5A>G |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003791691] |
Chr2:165941189 [GRCh38] Chr2:166797699 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.671C>T (p.Ala224Val) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003784518] |
Chr2:165941066 [GRCh38] Chr2:166797576 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.541C>T (p.Leu181=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003791252] |
Chr2:165943230 [GRCh38] Chr2:166799740 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.667C>T (p.Leu223=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003779410] |
Chr2:165941070 [GRCh38] Chr2:166797580 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.263-13T>C |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003792531] |
Chr2:165945703 [GRCh38] Chr2:166802213 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.429+5C>T |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003780911] |
Chr2:165945519 [GRCh38] Chr2:166802029 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.600T>C (p.Thr200=) |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003815211]|TTC21B-related disorder [RCV004542280] |
Chr2:165941137 [GRCh38] Chr2:166797647 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.430-15T>C |
single nucleotide variant |
Jeune thoracic dystrophy [RCV003812527] |
Chr2:165943356 [GRCh38] Chr2:166799866 [GRCh37] Chr2:2q24.3 |
likely benign |
NM_024753.5(TTC21B):c.459del (p.Thr154fs) |
deletion |
Jeune thoracic dystrophy [RCV003802890] |
Chr2:165943312 [GRCh38] Chr2:166799822 [GRCh37] Chr2:2q24.3 |
pathogenic |
NM_024753.5(TTC21B):c.380C>T (p.Ala127Val) |
single nucleotide variant |
Nephronophthisis 12 [RCV004577613] |
Chr2:165945573 [GRCh38] Chr2:166802083 [GRCh37] Chr2:2q24.3 |
uncertain significance |
NM_024753.5(TTC21B):c.553-2A>T |
single nucleotide variant |
Nephronophthisis 12 [RCV004577612] |
Chr2:165941186 [GRCh38] Chr2:166797696 [GRCh37] Chr2:2q24.3 |
pathogenic |