| NM_001243.4(TNFRSF8):c.268+2556C>G |
single nucleotide variant |
Lung cancer [RCV000089748] |
Chr1:12099773 [GRCh38]
Chr1:12159830 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| 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 1p36.22(chr1:11737130-12169786)x3 |
copy number gain |
See cases [RCV000051461] |
Chr1:11737130..12169786 [GRCh38]
Chr1:11797187..12229843 [GRCh37]
Chr1:11719774..12152430 [NCBI36]
Chr1:1p36.22 |
uncertain significance |
| 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 1p36.32-36.21(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 |
| 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 |
| NM_001243.4(TNFRSF8):c.643C>T (p.Pro215Ser) |
single nucleotide variant |
Malignant melanoma [RCV000064055] |
Chr1:12110171 [GRCh38]
Chr1:12170228 [GRCh37]
Chr1:12092815 [NCBI36]
Chr1:1p36.22 |
not provided |
| NM_001243.5(TNFRSF8):c.271G>T (p.Asp91Tyr) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149113] |
Chr1:12104381 [GRCh38]
Chr1:12164438 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| 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 |
| Single allele |
complex |
Breast ductal adenocarcinoma [RCV000207058] |
Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11 |
uncertain significance |
| chr1:909238-16736132 complex variant |
complex |
Breast ductal adenocarcinoma [RCV000207094] |
Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1043C>T (p.Thr348Ile) |
single nucleotide variant |
not specified [RCV000238772] |
Chr1:12123717 [GRCh38]
Chr1:12183774 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 |
copy number loss |
See cases [RCV000239416] |
Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22 |
pathogenic |
| GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 |
copy number loss |
See cases [RCV000240403] |
Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21 |
pathogenic |
| GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 |
copy number gain |
See cases [RCV000240284] |
Chr1:8255222..12785220 [GRCh37]
Chr1:1p36.23-36.21 |
likely pathogenic |
| GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 |
copy number loss |
See cases [RCV000446359] |
Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21 |
pathogenic |
| GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 |
copy number loss |
See cases [RCV000446470] |
Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12 |
pathogenic |
| GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1 |
copy number loss |
See cases [RCV000510444] |
Chr1:10722955..12910774 [GRCh37]
Chr1:1p36.22-36.21 |
likely pathogenic |
| GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3 |
copy number gain |
See cases [RCV000510407] |
Chr1:11143298..13709344 [GRCh37]
Chr1:1p36.22-36.21 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.22-36.21(chr1:11690766-12835739) |
copy number loss |
not provided [RCV000767547] |
Chr1:11690766..12835739 [GRCh37]
Chr1:1p36.22-36.21 |
pathogenic |
| NM_001243.5(TNFRSF8):c.835C>T (p.Arg279Cys) |
single nucleotide variant |
not specified [RCV004294301] |
Chr1:12115618 [GRCh38]
Chr1:12175675 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.854C>T (p.Pro285Leu) |
single nucleotide variant |
not specified [RCV004309143] |
Chr1:12115637 [GRCh38]
Chr1:12175694 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1 |
copy number loss |
See cases [RCV000512501] |
Chr1:10722725..14267773 [GRCh37]
Chr1:1p36.22-36.21 |
likely pathogenic |
| GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1 |
copy number loss |
See cases [RCV000512226] |
Chr1:8850514..16272383 [GRCh37]
Chr1:1p36.23-36.13 |
likely pathogenic |
| Single allele |
deletion |
Cerebellar dysfunction with variable cognitive and behavioral abnormalities [RCV000735904] |
Chr1:12030001..12898000 [GRCh37]
Chr1:1p36.22-36.21 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.22(chr1:11831595-12128498)x3 |
copy number gain |
not provided [RCV000736406] |
Chr1:11831595..12128498 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_001243.5(TNFRSF8):c.1326G>A (p.Arg442=) |
single nucleotide variant |
not provided [RCV000880968] |
Chr1:12135604 [GRCh38]
Chr1:12195661 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_001243.5(TNFRSF8):c.1256-8C>T |
single nucleotide variant |
not provided [RCV000901335] |
Chr1:12126175 [GRCh38]
Chr1:12186232 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_001243.5(TNFRSF8):c.813G>A (p.Thr271=) |
single nucleotide variant |
not provided [RCV000963739] |
Chr1:12115596 [GRCh38]
Chr1:12175653 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_001243.5(TNFRSF8):c.1755A>C (p.Glu585Asp) |
single nucleotide variant |
not provided [RCV000964801] |
Chr1:12142498 [GRCh38]
Chr1:12202555 [GRCh37]
Chr1:1p36.22 |
benign |
| GRCh37/hg19 1p36.22-36.21(chr1:11794553-12786444)x3 |
copy number gain |
See cases [RCV000790593] |
Chr1:11794553..12786444 [GRCh37]
Chr1:1p36.22-36.21 |
pathogenic |
| NM_001243.5(TNFRSF8):c.1193T>C (p.Val398Ala) |
single nucleotide variant |
not specified [RCV004289215] |
Chr1:12125990 [GRCh38]
Chr1:12186047 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1 |
uncertain significance |
| GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1 |
copy number loss |
not provided [RCV000846372] |
Chr1:10246640..12841900 [GRCh37]
Chr1:1p36.22-36.21 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.978G>A (p.Ala326=) |
single nucleotide variant |
not provided [RCV000949464] |
Chr1:12123315 [GRCh38]
Chr1:12183372 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_001243.5(TNFRSF8):c.327A>G (p.Arg109=) |
single nucleotide variant |
not provided [RCV000898985] |
Chr1:12104437 [GRCh38]
Chr1:12164494 [GRCh37]
Chr1:1p36.22 |
benign |
| NM_001243.5(TNFRSF8):c.1470G>T (p.Pro490=) |
single nucleotide variant |
not provided [RCV000907629] |
Chr1:12138363 [GRCh38]
Chr1:12198420 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_001243.5(TNFRSF8):c.771G>A (p.Thr257=) |
single nucleotide variant |
not provided [RCV000955676] |
Chr1:12111992 [GRCh38]
Chr1:12172049 [GRCh37]
Chr1:1p36.22 |
benign |
| GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 |
copy number loss |
not provided [RCV001832902] |
Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13 |
pathogenic |
| NC_000001.10:g.(?_8616514)_(12476900_?)dup |
duplication |
Immunodeficiency 14 [RCV001920571] |
Chr1:8616514..12476900 [GRCh37]
Chr1:1p36.23-36.22 |
uncertain significance |
| NC_000001.10:g.(?_11850737)_(12569078_?)dup |
duplication |
not provided [RCV001877528] |
Chr1:11850737..12569078 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NC_000001.10:g.(?_6485016)_(12569078_?)del |
deletion |
not provided [RCV001940096] |
Chr1:6485016..12569078 [GRCh37]
Chr1:1p36.31-36.22 |
uncertain significance |
| NC_000001.10:g.(?_9304994)_(12569078_?)dup |
duplication |
Charcot-Marie-Tooth disease type 2 [RCV003119499] |
Chr1:9304994..12569078 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.982C>A (p.Pro328Thr) |
single nucleotide variant |
not specified [RCV004287666] |
Chr1:12123319 [GRCh38]
Chr1:12183376 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NC_000001.11:g.10115497_16283149dup |
duplication |
not specified [RCV002286386] |
Chr1:10115497..16283149 [GRCh38]
Chr1:1p36.22-36.13 |
likely pathogenic |
| GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1 |
copy number loss |
not provided [RCV002474779] |
Chr1:6758933..19287770 [GRCh37]
Chr1:1p36.31-36.13 |
pathogenic |
| GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 |
copy number loss |
not provided [RCV002473951] |
Chr1:849467..12448956 [GRCh37]
Chr1:1p36.33-36.22 |
pathogenic |
| NM_001243.5(TNFRSF8):c.235G>A (p.Asp79Asn) |
single nucleotide variant |
not specified [RCV004201690] |
Chr1:12097184 [GRCh38]
Chr1:12157241 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.851G>A (p.Arg284Gln) |
single nucleotide variant |
not specified [RCV004074771] |
Chr1:12115634 [GRCh38]
Chr1:12175691 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1506G>C (p.Glu502Asp) |
single nucleotide variant |
not specified [RCV004090113] |
Chr1:12138399 [GRCh38]
Chr1:12198456 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.458C>T (p.Ser153Phe) |
single nucleotide variant |
not specified [RCV004181616] |
Chr1:12109602 [GRCh38]
Chr1:12169659 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.778G>A (p.Val260Met) |
single nucleotide variant |
not specified [RCV004084752] |
Chr1:12111999 [GRCh38]
Chr1:12172056 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.635C>T (p.Pro212Leu) |
single nucleotide variant |
not specified [RCV004229557] |
Chr1:12110163 [GRCh38]
Chr1:12170220 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.754G>A (p.Glu252Lys) |
single nucleotide variant |
not specified [RCV004099535] |
Chr1:12111975 [GRCh38]
Chr1:12172032 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1726A>T (p.Met576Leu) |
single nucleotide variant |
not specified [RCV004157301] |
Chr1:12142469 [GRCh38]
Chr1:12202526 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.844G>A (p.Glu282Lys) |
single nucleotide variant |
not specified [RCV004208099] |
Chr1:12115627 [GRCh38]
Chr1:12175684 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.488C>T (p.Pro163Leu) |
single nucleotide variant |
not specified [RCV004191279] |
Chr1:12109632 [GRCh38]
Chr1:12169689 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.764G>A (p.Arg255His) |
single nucleotide variant |
not specified [RCV004102132] |
Chr1:12111985 [GRCh38]
Chr1:12172042 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1622C>T (p.Ala541Val) |
single nucleotide variant |
not specified [RCV004217953] |
Chr1:12142365 [GRCh38]
Chr1:12202422 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_001243.5(TNFRSF8):c.880A>G (p.Thr294Ala) |
single nucleotide variant |
not specified [RCV004271493] |
Chr1:12115663 [GRCh38]
Chr1:12175720 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1469C>T (p.Pro490Leu) |
single nucleotide variant |
not specified [RCV004254456] |
Chr1:12138362 [GRCh38]
Chr1:12198419 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1351G>A (p.Ala451Thr) |
single nucleotide variant |
not specified [RCV004322516] |
Chr1:12138244 [GRCh38]
Chr1:12198301 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NC_000001.10:g.4481271_20530242del |
deletion |
Chromosome 1p36 deletion syndrome [RCV003159574] |
Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12 |
pathogenic |
| NM_001243.5(TNFRSF8):c.1373C>T (p.Ala458Val) |
single nucleotide variant |
not specified [RCV004347218] |
Chr1:12138266 [GRCh38]
Chr1:12198323 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.896G>A (p.Arg299His) |
single nucleotide variant |
not specified [RCV004363086] |
Chr1:12115679 [GRCh38]
Chr1:12175736 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.686C>G (p.Pro229Arg) |
single nucleotide variant |
not specified [RCV004344869] |
Chr1:12111907 [GRCh38]
Chr1:12171964 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1741G>A (p.Glu581Lys) |
single nucleotide variant |
not specified [RCV004357203] |
Chr1:12142484 [GRCh38]
Chr1:12202541 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.22(chr1:12055883-12441427)x1 |
copy number loss |
not provided [RCV003483050] |
Chr1:12055883..12441427 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1244G>A (p.Arg415Gln) |
single nucleotide variant |
not provided [RCV003422588] |
Chr1:12126041 [GRCh38]
Chr1:12186098 [GRCh37]
Chr1:1p36.22 |
likely benign |
| 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 |
| GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1 |
copy number loss |
not specified [RCV003987128] |
Chr1:6330828..12910774 [GRCh37]
Chr1:1p36.31-36.21 |
pathogenic |
| NM_001243.5(TNFRSF8):c.1639G>A (p.Glu547Lys) |
single nucleotide variant |
not specified [RCV004473201] |
Chr1:12142382 [GRCh38]
Chr1:12202439 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1661C>T (p.Ala554Val) |
single nucleotide variant |
not specified [RCV004473202] |
Chr1:12142404 [GRCh38]
Chr1:12202461 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_001243.5(TNFRSF8):c.355G>T (p.Val119Phe) |
single nucleotide variant |
not specified [RCV004473203] |
Chr1:12104465 [GRCh38]
Chr1:12164522 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.913A>G (p.Ile305Val) |
single nucleotide variant |
not specified [RCV004473211] |
Chr1:12115696 [GRCh38]
Chr1:12175753 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.998C>A (p.Pro333Gln) |
single nucleotide variant |
not specified [RCV004473212] |
Chr1:12123335 [GRCh38]
Chr1:12183392 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2 |
copy number loss |
not provided [RCV004577440] |
Chr1:4436802..22782007 [GRCh37]
Chr1:1p36.32-36.12 |
pathogenic |
| NM_001243.5(TNFRSF8):c.542C>T (p.Pro181Leu) |
single nucleotide variant |
not specified [RCV004473204] |
Chr1:12110070 [GRCh38]
Chr1:12170127 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_001243.5(TNFRSF8):c.809A>C (p.Lys270Thr) |
single nucleotide variant |
not specified [RCV004473208] |
Chr1:12115592 [GRCh38]
Chr1:12175649 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1604C>A (p.Pro535Gln) |
single nucleotide variant |
not specified [RCV004473200] |
Chr1:12142347 [GRCh38]
Chr1:12202404 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.770C>T (p.Thr257Met) |
single nucleotide variant |
not specified [RCV004473207] |
Chr1:12111991 [GRCh38]
Chr1:12172048 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1423G>A (p.Val475Met) |
single nucleotide variant |
not specified [RCV004473199] |
Chr1:12138316 [GRCh38]
Chr1:12198373 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.753C>A (p.Asp251Glu) |
single nucleotide variant |
not specified [RCV004473206] |
Chr1:12111974 [GRCh38]
Chr1:12172031 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.812C>T (p.Thr271Met) |
single nucleotide variant |
not specified [RCV004473209] |
Chr1:12115595 [GRCh38]
Chr1:12175652 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.864C>G (p.Ile288Met) |
single nucleotide variant |
not specified [RCV004473210] |
Chr1:12115647 [GRCh38]
Chr1:12175704 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.929C>T (p.Thr310Met) |
single nucleotide variant |
not specified [RCV004687011] |
Chr1:12115712 [GRCh38]
Chr1:12175769 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_001243.5(TNFRSF8):c.1198G>A (p.Gly400Ser) |
single nucleotide variant |
not specified [RCV004682137] |
Chr1:12125995 [GRCh38]
Chr1:12186052 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.22C>G (p.Leu8Val) |
single nucleotide variant |
not specified [RCV004682140] |
Chr1:12063620 [GRCh38]
Chr1:12123677 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1108G>A (p.Ala370Thr) |
single nucleotide variant |
not specified [RCV004687010] |
Chr1:12123782 [GRCh38]
Chr1:12183839 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1720G>A (p.Asp574Asn) |
single nucleotide variant |
not specified [RCV004682138] |
Chr1:12142463 [GRCh38]
Chr1:12202520 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1001A>G (p.Asp334Gly) |
single nucleotide variant |
not specified [RCV004682139] |
Chr1:12123338 [GRCh38]
Chr1:12183395 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1261C>T (p.His421Tyr) |
single nucleotide variant |
not specified [RCV004882859] |
Chr1:12126188 [GRCh38]
Chr1:12186245 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1608G>C (p.Glu536Asp) |
single nucleotide variant |
not specified [RCV004882861] |
Chr1:12142351 [GRCh38]
Chr1:12202408 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1613G>A (p.Arg538Gln) |
single nucleotide variant |
not specified [RCV004882857] |
Chr1:12142356 [GRCh38]
Chr1:12202413 [GRCh37]
Chr1:1p36.22 |
likely benign |
| NM_001243.5(TNFRSF8):c.887C>T (p.Ser296Phe) |
single nucleotide variant |
not specified [RCV004882860] |
Chr1:12115670 [GRCh38]
Chr1:12175727 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1604C>T (p.Pro535Leu) |
single nucleotide variant |
not specified [RCV004882854] |
Chr1:12142347 [GRCh38]
Chr1:12202404 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.763C>T (p.Arg255Cys) |
single nucleotide variant |
not specified [RCV004882855] |
Chr1:12111984 [GRCh38]
Chr1:12172041 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
| NM_001243.5(TNFRSF8):c.1675C>G (p.His559Asp) |
single nucleotide variant |
not specified [RCV004882856] |
Chr1:12142418 [GRCh38]
Chr1:12202475 [GRCh37]
Chr1:1p36.22 |
uncertain significance |
