NM_199360.2(TPD52L2):c.374+2217G>T |
single nucleotide variant |
Lung cancer [RCV000101738] |
Chr20:63878092 [GRCh38] Chr20:62509445 [GRCh37] Chr20:20q13.33 |
uncertain significance |
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3 |
copy number gain |
Global developmental delay [RCV000051131]|See cases [RCV000051131] |
Chr20:63199020..64277321 [GRCh38] Chr20:61830372..62908674 [GRCh37] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.33(chr20:63827808-64100279)x3 |
copy number gain |
See cases [RCV000050998] |
Chr20:63827808..64100279 [GRCh38] Chr20:62459161..62731632 [GRCh37] Chr20:61929605..62202076 [NCBI36] Chr20:20q13.33 |
uncertain significance |
GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1 |
copy number loss |
See cases [RCV000052769] |
Chr20:62545370..64241486 [GRCh38] Chr20:61142577..62872839 [GRCh37] Chr20:60553022..62343283 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.33(chr20:63441478-64277321)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052772]|See cases [RCV000052772] |
Chr20:63441478..64277321 [GRCh38] Chr20:62072831..62908674 [GRCh37] Chr20:61543275..62379118 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 |
copy number gain |
See cases [RCV000053035] |
Chr20:44787704..64277321 [GRCh38] Chr20:43416345..62908674 [GRCh37] Chr20:42849759..62379118 [NCBI36] Chr20:20q13.12-13.33 |
pathogenic |
NM_003288.4(TPD52L2):c.497C>T (p.Ser166Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002991927] |
Chr20:63889210 [GRCh38] Chr20:62520563 [GRCh37] Chr20:61991007 [NCBI36] Chr20:20q13.33 |
uncertain significance|not provided |
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3 |
copy number gain |
See cases [RCV000051131] |
Chr20:63199020..64277321 [GRCh38] Chr20:61830372..62908674 [GRCh37] Chr20:61300817..62379118 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1 |
copy number loss |
See cases [RCV000133842] |
Chr20:62561794..64277321 [GRCh38] Chr20:61211869..62908674 [GRCh37] Chr20:60569446..62379118 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3 |
copy number gain |
See cases [RCV000135805] |
Chr20:59041966..64277321 [GRCh38] Chr20:57617021..62908674 [GRCh37] Chr20:57050416..62379118 [NCBI36] Chr20:20q13.32-13.33 |
pathogenic |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 |
copy number gain |
See cases [RCV000135859] |
Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1 |
copy number loss |
See cases [RCV000135514] |
Chr20:63199020..64277321 [GRCh38] Chr20:61830372..62908674 [GRCh37] Chr20:61300817..62379118 [NCBI36] Chr20:20q13.33 |
likely pathogenic |
GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1 |
copy number loss |
See cases [RCV000137385] |
Chr20:63153963..64277321 [GRCh38] Chr20:61785315..62908674 [GRCh37] Chr20:61255760..62379118 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3 |
copy number gain |
See cases [RCV000138035] |
Chr20:56198032..64277321 [GRCh38] Chr20:54773088..62908674 [GRCh37] Chr20:54206495..62379118 [NCBI36] Chr20:20q13.2-13.33 |
pathogenic |
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3 |
copy number gain |
See cases [RCV000139100] |
Chr20:61326549..64277326 [GRCh38] Chr20:59901605..62908679 [GRCh37] Chr20:59335000..62379123 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3 |
copy number gain |
See cases [RCV000141347] |
Chr20:57229415..64273089 [GRCh38] Chr20:55804471..62904442 [GRCh37] Chr20:55237878..62374886 [NCBI36] Chr20:20q13.31-13.33 |
pathogenic |
GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1 |
copy number loss |
See cases [RCV000141744] |
Chr20:62582073..64284202 [GRCh38] Chr20:61179280..62915555 [GRCh37] Chr20:60589725..62385999 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3 |
copy number gain |
See cases [RCV000141762] |
Chr20:63385523..64270639 [GRCh38] Chr20:62016875..62901992 [GRCh37] Chr20:61487319..62372436 [NCBI36] Chr20:20q13.33 |
uncertain significance |
GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1 |
copy number loss |
See cases [RCV000141676] |
Chr20:62663307..64284202 [GRCh38] Chr20:61294659..62915555 [GRCh37] Chr20:60765104..62385999 [NCBI36] Chr20:20q13.33 |
pathogenic |
GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3 |
copy number gain |
See cases [RCV000143584] |
Chr20:53236165..64284202 [GRCh38] Chr20:51852704..62915555 [GRCh37] Chr20:51286111..62385999 [NCBI36] Chr20:20q13.2-13.33 |
likely pathogenic |
GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1 |
copy number loss |
See cases [RCV000240214] |
Chr20:61827144..62907526 [GRCh37] Chr20:20q13.33 |
pathogenic |
GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1 |
copy number loss |
not provided [RCV000488148] |
Chr20:61337529..62904501 [GRCh37] Chr20:20q13.33 |
likely pathogenic |
GRCh37/hg19 20q13.33(chr20:61827144-62907467)x1 |
copy number loss |
See cases [RCV000446096] |
Chr20:61827144..62907467 [GRCh37] Chr20:20q13.33 |
pathogenic |
GRCh37/hg19 20q13.33(chr20:60473339-62915555)x3 |
copy number gain |
See cases [RCV000446009] |
Chr20:60473339..62915555 [GRCh37] Chr20:20q13.33 |
uncertain significance |
GRCh37/hg19 20q13.33(chr20:61884113-62915555)x1 |
copy number loss |
See cases [RCV000510189] |
Chr20:61884113..62915555 [GRCh37] Chr20:20q13.33 |
pathogenic |
GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3 |
copy number gain |
See cases [RCV000511980] |
Chr20:51542616..62915555 [GRCh37] Chr20:20q13.2-13.33 |
likely pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 |
copy number gain |
See cases [RCV000510832] |
Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_003288.4(TPD52L2):c.610G>A (p.Ala204Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003254508] |
Chr20:63889934 [GRCh38] Chr20:62521287 [GRCh37] Chr20:20q13.33 |
likely benign |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) |
copy number gain |
See cases [RCV000512450] |
Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20q13.33(chr20:62002369-62915555)x1 |
copy number loss |
not provided [RCV000684126] |
Chr20:62002369..62915555 [GRCh37] Chr20:20q13.33 |
pathogenic |
GRCh37/hg19 20q13.33(chr20:62090403-62915555)x1 |
copy number loss |
not provided [RCV000684123] |
Chr20:62090403..62915555 [GRCh37] Chr20:20q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 |
copy number gain |
not provided [RCV000741059] |
Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20q13.33(chr20:60053234-62961294)x3 |
copy number gain |
not provided [RCV000741328] |
Chr20:60053234..62961294 [GRCh37] Chr20:20q13.33 |
pathogenic |
GRCh37/hg19 20q13.33(chr20:60063645-62961294)x3 |
copy number gain |
not provided [RCV000741329] |
Chr20:60063645..62961294 [GRCh37] Chr20:20q13.33 |
pathogenic |
GRCh37/hg19 20q13.33(chr20:62495822-62525667)x1 |
copy number loss |
not provided [RCV000741398] |
Chr20:62495822..62525667 [GRCh37] Chr20:20q13.33 |
benign |
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 |
copy number gain |
not provided [RCV000741057] |
Chr20:63244..62912463 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 |
copy number gain |
not provided [RCV000741058] |
Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_003288.4(TPD52L2):c.480C>A (p.Asn160Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003246088] |
Chr20:63889193 [GRCh38] Chr20:62520546 [GRCh37] Chr20:20q13.33 |
uncertain significance |
NM_003288.4(TPD52L2):c.298G>A (p.Val100Met) |
single nucleotide variant |
not provided [RCV000973757] |
Chr20:63873800 [GRCh38] Chr20:62505153 [GRCh37] Chr20:20q13.33 |
benign |
GRCh37/hg19 20q13.33(chr20:61152321-62915555)x1 |
copy number loss |
not provided [RCV001007103] |
Chr20:61152321..62915555 [GRCh37] Chr20:20q13.33 |
pathogenic |
GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3 |
copy number gain |
not provided [RCV001007098] |
Chr20:56788101..62762405 [GRCh37] Chr20:20q13.32-13.33 |
pathogenic |
NC_000020.10:g.(?_61977556)_(62562941_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001031161] |
Chr20:61977556..62562941 [GRCh37] Chr20:20q13.33 |
pathogenic|uncertain significance |
NC_000020.10:g.(?_60831241)_(62680869_?)dup |
duplication |
Developmental and epileptic encephalopathy, 33 [RCV003107566]|Early infantile epileptic encephalopathy with suppression bursts [RCV003122564] |
Chr20:60831241..62680869 [GRCh37] Chr20:20q13.33 |
uncertain significance |
NC_000020.10:g.(?_61977556)_(62562941_?)dup |
duplication |
Autosomal dominant nocturnal frontal lobe epilepsy [RCV001033704] |
Chr20:61977556..62562941 [GRCh37] Chr20:20q13.33 |
uncertain significance |
GRCh37/hg19 20q13.33(chr20:61975605-62915555)x1 |
copy number loss |
not provided [RCV001258914] |
Chr20:61975605..62915555 [GRCh37] Chr20:20q13.33 |
pathogenic |
NC_000020.10:g.(?_60831241)_(62664346_?)dup |
duplication |
Developmental and epileptic encephalopathy, 33 [RCV001295457]|Early infantile epileptic encephalopathy with suppression bursts [RCV001316934] |
Chr20:60831241..62664346 [GRCh37] Chr20:20q13.33 |
uncertain significance |
GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3 |
copy number gain |
not provided [RCV001537917] |
Chr20:51799648..62916626 [GRCh37] Chr20:20q13.2-13.33 |
pathogenic |
GRCh37/hg19 20q13.33(chr20:61041481-62680992) |
copy number loss |
Seizures, benign familial neonatal, 1 [RCV001786555] |
Chr20:61041481..62680992 [GRCh37] Chr20:20q13.33 |
likely pathogenic |
GRCh37/hg19 20q13.33(chr20:61038552-62907579) |
copy number loss |
Seizures, benign familial neonatal, 1 [RCV001786557] |
Chr20:61038552..62907579 [GRCh37] Chr20:20q13.33 |
likely pathogenic |
GRCh37/hg19 20q13.33(chr20:61826780-62660844) |
copy number loss |
Seizures, benign familial neonatal, 1 [RCV001786550] |
Chr20:61826780..62660844 [GRCh37] Chr20:20q13.33 |
likely pathogenic |
GRCh37/hg19 20q13.33(chr20:61273854-62907579) |
copy number loss |
Seizures, benign familial neonatal, 1 [RCV001786556] |
Chr20:61273854..62907579 [GRCh37] Chr20:20q13.33 |
likely pathogenic |
GRCh37/hg19 20q13.33(chr20:61619222-62915555) |
copy number loss |
not specified [RCV002052718] |
Chr20:61619222..62915555 [GRCh37] Chr20:20q13.33 |
pathogenic |
GRCh37/hg19 20q13.33(chr20:61003263-62915555) |
copy number loss |
not specified [RCV002052717] |
Chr20:61003263..62915555 [GRCh37] Chr20:20q13.33 |
pathogenic |
GRCh37/hg19 20q13.33(chr20:61775756-62915555)x1 |
copy number loss |
not provided [RCV001834246] |
Chr20:61775756..62915555 [GRCh37] Chr20:20q13.33 |
pathogenic |
GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555) |
copy number gain |
not specified [RCV002052713] |
Chr20:56835739..62915555 [GRCh37] Chr20:20q13.32-13.33 |
pathogenic |
GRCh37/hg19 20q13.33(chr20:60473339-62915555) |
copy number gain |
not specified [RCV002052714] |
Chr20:60473339..62915555 [GRCh37] Chr20:20q13.33 |
uncertain significance |
GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3 |
copy number gain |
not provided [RCV002473575] |
Chr20:60621074..62915555 [GRCh37] Chr20:20q13.33 |
uncertain significance |
NM_003288.4(TPD52L2):c.575C>T (p.Ser192Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002905474] |
Chr20:63889899 [GRCh38] Chr20:62521252 [GRCh37] Chr20:20q13.33 |
uncertain significance |
NM_003288.4(TPD52L2):c.98C>T (p.Ala33Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002946925] |
Chr20:63869374 [GRCh38] Chr20:62500727 [GRCh37] Chr20:20q13.33 |
uncertain significance |
NM_003288.4(TPD52L2):c.68C>T (p.Thr23Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002924451] |
Chr20:63869344 [GRCh38] Chr20:62500697 [GRCh37] Chr20:20q13.33 |
uncertain significance |
NM_003288.4(TPD52L2):c.350A>G (p.Asn117Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002884783] |
Chr20:63875851 [GRCh38] Chr20:62507204 [GRCh37] Chr20:20q13.33 |
uncertain significance |
NM_003288.4(TPD52L2):c.311G>A (p.Ser104Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002713359] |
Chr20:63873813 [GRCh38] Chr20:62505166 [GRCh37] Chr20:20q13.33 |
likely benign |
NM_003288.4(TPD52L2):c.533T>C (p.Val178Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002679339] |
Chr20:63889857 [GRCh38] Chr20:62521210 [GRCh37] Chr20:20q13.33 |
uncertain significance |
GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3 |
copy number gain |
See cases [RCV003329549] |
Chr20:52773668..62965020 [GRCh37] Chr20:20q13.2-13.33 |
uncertain significance |
GRCh37/hg19 20q13.33(chr20:61986902-62690224)x3 |
copy number gain |
not provided [RCV003485217] |
Chr20:61986902..62690224 [GRCh37] Chr20:20q13.33 |
uncertain significance |
GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1 |
copy number loss |
not provided [RCV003483370] |
Chr20:62347562..62915555 [GRCh37] Chr20:20q13.33 |
uncertain significance |