NM_001066.2(TNFRSF1B):c.720C>T (p.Ser240=) |
single nucleotide variant |
Malignant melanoma [RCV000064056] |
Chr1:12193031 [GRCh38] Chr1:12253088 [GRCh37] Chr1:12175675 [NCBI36] Chr1:1p36.22 |
not provided |
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 |
copy number loss |
See cases [RCV000133779] |
Chr1:9064492..12666744 [GRCh38] Chr1:9124551..12726755 [GRCh37] Chr1:9047138..12649342 [NCBI36] Chr1:1p36.23-36.21 |
pathogenic |
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 |
copy number loss |
See cases [RCV000135807] |
Chr1:8283694..12470133 [GRCh38] Chr1:8343754..12530188 [GRCh37] Chr1:8266341..12452775 [NCBI36] Chr1:1p36.23-36.22 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 |
copy number loss |
See cases [RCV000136695] |
Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic|likely pathogenic |
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 |
copy number loss |
See cases [RCV000137461] |
Chr1:4898439..12911913 [GRCh38] Chr1:4958499..12971757 [GRCh37] Chr1:4858359..12894344 [NCBI36] Chr1:1p36.32-36.21 |
pathogenic |
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 |
copy number loss |
See cases [RCV000137948] |
Chr1:6303641..15799093 [GRCh38] Chr1:6363701..16125588 [GRCh37] Chr1:6286288..15998175 [NCBI36] Chr1:1p36.31-36.21 |
pathogenic|likely benign |
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 |
copy number loss |
See cases [RCV000140873] |
Chr1:9428538..15815791 [GRCh38] Chr1:9488597..16142286 [GRCh37] Chr1:9411184..16014873 [NCBI36] Chr1:1p36.22-36.21 |
pathogenic |
GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3 |
copy number gain |
See cases [RCV000141823] |
Chr1:11021751..15236671 [GRCh38] Chr1:11081808..15563167 [GRCh37] Chr1:11004395..15435754 [NCBI36] Chr1:1p36.22-36.21 |
likely pathogenic |
GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1 |
copy number loss |
See cases [RCV000141438] |
Chr1:10264397..15780840 [GRCh38] Chr1:10324455..16107335 [GRCh37] Chr1:10247042..15979922 [NCBI36] Chr1:1p36.22-36.21 |
pathogenic |
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 |
copy number gain |
See cases [RCV000142906] |
Chr1:6554885..16056011 [GRCh38] Chr1:6614945..16382506 [GRCh37] Chr1:6537532..16255093 [NCBI36] Chr1:1p36.31-36.13 |
pathogenic |
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 |
copy number loss |
See cases [RCV000142771] |
Chr1:5363826..18360302 [GRCh38] Chr1:5423886..18686796 [GRCh37] Chr1:5323746..18559383 [NCBI36] Chr1:1p36.31-36.13 |
pathogenic |
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 |
copy number gain |
See cases [RCV000051794] |
Chr1:6652339..12724844 [GRCh38] Chr1:6712399..12784811 [GRCh37] Chr1:6634986..12707398 [NCBI36] Chr1:1p36.31-36.21 |
pathogenic |
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] |
Chr1:6853513..17326813 [GRCh38] Chr1:6913573..17685411 [GRCh37] Chr1:6836160..17557998 [NCBI36] Chr1:1p36.31-36.13 |
pathogenic |
GRCh38/hg38 1p36.22-36.21(chr1:12149586-13111056)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051796]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051796]|See cases [RCV000051796] |
Chr1:12149586..13111056 [GRCh38] Chr1:12209643..13178528 [GRCh37] Chr1:12132230..13101115 [NCBI36] Chr1:1p36.22-36.21 |
pathogenic |
GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3 |
copy number gain |
See cases [RCV000051460] |
Chr1:11654070..12768656 [GRCh38] Chr1:11714127..12828807 [GRCh37] Chr1:11636714..12751394 [NCBI36] Chr1:1p36.22-36.21 |
uncertain significance |
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 |
copy number loss |
See cases [RCV000053755] |
Chr1:7165036..13111056 [GRCh38] Chr1:7225096..13178528 [GRCh37] Chr1:7147683..13101115 [NCBI36] Chr1:1p36.23-36.21 |
pathogenic |
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 |
copy number loss |
See cases [RCV000053756] |
Chr1:9034671..16441465 [GRCh38] Chr1:9094730..16767960 [GRCh37] Chr1:9017317..16640547 [NCBI36] Chr1:1p36.23-36.13 |
pathogenic |
GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|See cases [RCV000053757] |
Chr1:9406722..12852772 [GRCh38] Chr1:9466781..12912625 [GRCh37] Chr1:9389368..12835212 [NCBI36] Chr1:1p36.22-36.21 |
pathogenic |
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] |
Chr1:2963330..12666744 [GRCh38] Chr1:2879895..12726755 [GRCh37] Chr1:2869755..12649342 [NCBI36] Chr1:1p36.32-36.21 |
pathogenic |
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 |
copy number loss |
See cases [RCV000053714] |
Chr1:3006193..17688934 [GRCh38] Chr1:2922757..18015429 [GRCh37] Chr1:2912617..17888016 [NCBI36] Chr1:1p36.32-36.13 |
pathogenic |
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 |
copy number loss |
See cases [RCV000053724] |
Chr1:4898439..13111056 [GRCh38] Chr1:4958499..13178528 [GRCh37] Chr1:4858359..13101115 [NCBI36] Chr1:1p36.32-36.21 |
pathogenic |
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 |
copy number loss |
See cases [RCV000053760] |
Chr1:10556797..22557907 [GRCh38] Chr1:10616854..22884400 [GRCh37] Chr1:10539441..22756987 [NCBI36] Chr1:1p36.22-36.12 |
pathogenic |
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 |
copy number loss |
See cases [RCV000053763] |
Chr1:10621776..16520709 [GRCh38] Chr1:10681833..16847204 [GRCh37] Chr1:10604420..16719791 [NCBI36] Chr1:1p36.22-36.13 |
pathogenic |
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 |
copy number loss |
See cases [RCV000053765] |
Chr1:10809039..16422500 [GRCh38] Chr1:10869096..16748995 [GRCh37] Chr1:10791683..16621582 [NCBI36] Chr1:1p36.22-36.13 |
pathogenic |
GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1 |
copy number loss |
See cases [RCV000053766] |
Chr1:11121625..16324498 [GRCh38] Chr1:11181682..16650993 [GRCh37] Chr1:11104269..16523580 [NCBI36] Chr1:1p36.22-36.13 |
pathogenic |
NC_000001.11:g.10115497_16283149dup |
duplication |
not specified [RCV002286386] |
Chr1:10115497..16283149 [GRCh38] Chr1:1p36.22-36.13 |
likely pathogenic |
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 |
copy number gain |
Trisomy 12p [RCV003447845] |
Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1 |
pathogenic |