NM_000417.2(IL2RA):c.62_64+1del |
microsatellite |
Interleukin 2 receptor, alpha, deficiency of [RCV000015780] |
Chr10:6062087..6062090 [GRCh38] Chr10:6104050..6104053 [GRCh37] Chr10:10p15.1 |
pathogenic |
NC_000010.10:g.6122009T>A |
single nucleotide variant |
Diabetes mellitus, insulin-dependent, 10 [RCV000015782] |
Chr10:6080046 [GRCh38] Chr10:6122009 [GRCh37] Chr10:10p15.1 |
pathogenic|association |
GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3 |
copy number gain |
See cases [RCV000051132] |
Chr10:90421..6769994 [GRCh38] Chr10:224406..6811956 [GRCh37] Chr10:126361..6851962 [NCBI36] Chr10:10p15.3-14 |
pathogenic |
GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3 |
copy number gain |
See cases [RCV000051107] |
Chr10:90421..8442783 [GRCh38] Chr10:224406..8484746 [GRCh37] Chr10:126361..8524752 [NCBI36] Chr10:10p15.3-14 |
pathogenic |
GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1 |
copy number loss |
See cases [RCV000052493] |
Chr10:69260..6209368 [GRCh38] Chr10:224406..6251331 [GRCh37] Chr10:105200..6291337 [NCBI36] Chr10:10p15.3-15.1 |
pathogenic |
GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|See cases [RCV000052496] |
Chr10:90421..15569528 [GRCh38] Chr10:224406..15611527 [GRCh37] Chr10:126361..15651533 [NCBI36] Chr10:10p15.3-13 |
pathogenic |
GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1 |
copy number loss |
See cases [RCV000052500] |
Chr10:4802753..16823491 [GRCh38] Chr10:4844945..16865490 [GRCh37] Chr10:4834945..16905496 [NCBI36] Chr10:10p15.1-13 |
pathogenic |
GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3 |
copy number gain |
See cases [RCV000053507] |
Chr10:69261..19184047 [GRCh38] Chr10:224406..19472976 [GRCh37] Chr10:105201..19512982 [NCBI36] Chr10:10p15.3-12.31 |
pathogenic |
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3 |
copy number gain |
See cases [RCV000053508] |
Chr10:90221..22567425 [GRCh38] Chr10:224406..22856354 [GRCh37] Chr10:126161..22896360 [NCBI36] Chr10:10p15.3-12.2 |
pathogenic |
GRCh38/hg38 10p15.3-14(chr10:90421-7085100)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]|See cases [RCV000053511] |
Chr10:90421..7085100 [GRCh38] Chr10:224406..7127062 [GRCh37] Chr10:126361..7167068 [NCBI36] Chr10:10p15.3-14 |
pathogenic |
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] |
Chr10:90421..29058318 [GRCh38] Chr10:224406..29347247 [GRCh37] Chr10:126361..29387253 [NCBI36] Chr10:10p15.3-12.1 |
pathogenic |
NM_000417.2(IL2RA):c.421C>T (p.His141Tyr) |
single nucleotide variant |
Malignant melanoma [RCV000068985] |
Chr10:6021640 [GRCh38] Chr10:6063603 [GRCh37] Chr10:6103609 [NCBI36] Chr10:10p15.1 |
not provided |
NM_000417.2(IL2RA):c.64G>A (p.Glu22Lys) |
single nucleotide variant |
Malignant melanoma [RCV000068988] |
Chr10:6062088 [GRCh38] Chr10:6104051 [GRCh37] Chr10:6144057 [NCBI36] Chr10:10p15.1 |
not provided |
NM_000417.2(IL2RA):c.717C>A (p.Tyr239Ter) |
single nucleotide variant |
Malignant melanoma [RCV000062049] |
Chr10:6019438 [GRCh38] Chr10:6061401 [GRCh37] Chr10:6101407 [NCBI36] Chr10:10p15.1 |
not provided |
NC_000010.11:g.6072697C>A |
single nucleotide variant |
TYPE 1 DIABETES MELLITUS, INSULIN-DEPENDENT, 10 [RCV000015781] |
Chr10:6072697 [GRCh38] Chr10:6114660 [GRCh37] Chr10:10p15.1 |
pathogenic|association |
NM_000417.2(IL2RA):c.711A>G (p.Thr237=) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000363300]|not specified [RCV000299953] |
Chr10:6019444 [GRCh38] Chr10:6061407 [GRCh37] Chr10:10p15.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3 |
copy number gain |
See cases [RCV000135340] |
Chr10:73856..12815915 [GRCh38] Chr10:119796..12857914 [GRCh37] Chr10:109796..12897920 [NCBI36] Chr10:10p15.3-13 |
pathogenic |
GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1 |
copy number loss |
See cases [RCV000135820] |
Chr10:4605831..7403265 [GRCh38] Chr10:4648023..7445227 [GRCh37] Chr10:4638023..7485233 [NCBI36] Chr10:10p15.1-14 |
uncertain significance |
GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3 |
copy number gain |
See cases [RCV000135533] |
Chr10:90421..11713049 [GRCh38] Chr10:224406..11755048 [GRCh37] Chr10:126361..11795054 [NCBI36] Chr10:10p15.3-14 |
pathogenic|uncertain significance |
GRCh38/hg38 10p15.3-13(chr10:70478-15373336)x3 |
copy number gain |
See cases [RCV000137384] |
Chr10:70478..15373336 [GRCh38] Chr10:224406..15415335 [GRCh37] Chr10:106418..15455341 [NCBI36] Chr10:10p15.3-13 |
uncertain significance |
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 |
copy number gain |
See cases [RCV000138428] |
Chr10:90205..26339978 [GRCh38] Chr10:224406..26628907 [GRCh37] Chr10:126145..26668913 [NCBI36] Chr10:10p15.3-12.1 |
pathogenic |
GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1 |
copy number loss |
See cases [RCV000138960] |
Chr10:70478..13736564 [GRCh38] Chr10:224406..13778564 [GRCh37] Chr10:106418..13818570 [NCBI36] Chr10:10p15.3-13 |
pathogenic |
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 |
copy number gain |
See cases [RCV000141497] |
Chr10:4604734..48074662 [GRCh38] Chr10:4646926..47531169 [GRCh37] Chr10:4636926..47125152 [NCBI36] Chr10:10p15.1-q11.22 |
benign |
GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3 |
copy number gain |
See cases [RCV000142292] |
Chr10:54086..13205916 [GRCh38] Chr10:100026..13247916 [GRCh37] Chr10:90026..13287922 [NCBI36] Chr10:10p15.3-13 |
pathogenic |
GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3 |
copy number gain |
See cases [RCV000142241] |
Chr10:1601172..9203729 [GRCh38] Chr10:1643367..9245692 [GRCh37] Chr10:1633367..9285698 [NCBI36] Chr10:10p15.3-14 |
likely pathogenic |
GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1 |
copy number loss |
See cases [RCV000143703] |
Chr10:54086..19336980 [GRCh38] Chr10:100026..19625909 [GRCh37] Chr10:90026..19665915 [NCBI36] Chr10:10p15.3-12.31 |
pathogenic|likely pathogenic |
NM_000417.2(IL2RA):c.301C>T (p.Gln101Ter) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000185639] |
Chr10:6024310 [GRCh38] Chr10:6066273 [GRCh37] Chr10:10p15.1 |
pathogenic |
NM_000417.2(IL2RA):c.692dup (p.Thr232fs) |
duplication |
Interleukin 2 receptor, alpha, deficiency of [RCV000185640] |
Chr10:6019462..6019463 [GRCh38] Chr10:6061425..6061426 [GRCh37] Chr10:10p15.1 |
pathogenic |
NM_001308243.2(IL2RA):c.368-409G>A |
single nucleotide variant |
not provided [RCV000178765] |
Chr10:6019908 [GRCh38] Chr10:6061871 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_001308242.2(IL2RA):c.368-1623G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000185641] |
Chr10:6021564 [GRCh38] Chr10:6063527 [GRCh37] Chr10:10p15.1 |
pathogenic |
NM_000417.2(IL2RA):c.122A>C (p.Tyr41Ser) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000185642] |
Chr10:6025968 [GRCh38] Chr10:6067931 [GRCh37] Chr10:10p15.1 |
pathogenic |
GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1 |
copy number loss |
See cases [RCV000239795] |
Chr10:2593113..8484746 [GRCh37] Chr10:10p15.3-14 |
pathogenic |
NM_000417.2(IL2RA):c.457G>A (p.Val153Ile) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000320029]|not specified [RCV000289474] |
Chr10:6021604 [GRCh38] Chr10:6063567 [GRCh37] Chr10:10p15.1 |
benign|likely benign |
NM_000417.2(IL2RA):c.439A>T (p.Met147Leu) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000526682] |
Chr10:6021622 [GRCh38] Chr10:6063585 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.787C>T (p.Arg263Trp) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000284134]|not provided [RCV000994347] |
Chr10:6018060 [GRCh38] Chr10:6060023 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*1672A>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000320848] |
Chr10:6011200 [GRCh38] Chr10:6053163 [GRCh37] Chr10:10p15.1 |
benign|likely benign |
NM_000417.2(IL2RA):c.*677G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000369552] |
Chr10:6012195 [GRCh38] Chr10:6054158 [GRCh37] Chr10:10p15.1 |
benign|likely benign |
NM_000417.2(IL2RA):c.*1026G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000302830] |
Chr10:6011846 [GRCh38] Chr10:6053809 [GRCh37] Chr10:10p15.1 |
likely benign|uncertain significance |
NM_000417.2(IL2RA):c.757G>A (p.Val253Ile) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000346157] |
Chr10:6018090 [GRCh38] Chr10:6060053 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.367+7G>C |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000323644]|not specified [RCV000454685] |
Chr10:6024237 [GRCh38] Chr10:6066200 [GRCh37] Chr10:10p15.1 |
benign |
NM_000417.2(IL2RA):c.*107C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000372171] |
Chr10:6012765 [GRCh38] Chr10:6054728 [GRCh37] Chr10:10p15.1 |
likely benign|uncertain significance |
NM_000417.2(IL2RA):c.753C>T (p.Ile251=) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000398793] |
Chr10:6018094 [GRCh38] Chr10:6060057 [GRCh37] Chr10:10p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000417.2(IL2RA):c.*1880C>G |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000306114] |
Chr10:6010992 [GRCh38] Chr10:6052955 [GRCh37] Chr10:10p15.1 |
benign|likely benign |
NM_000417.2(IL2RA):c.732C>T (p.Ala244=) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000306478] |
Chr10:6018115 [GRCh38] Chr10:6060078 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*444T>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000375454] |
Chr10:6012428 [GRCh38] Chr10:6054391 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*70G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000400770] |
Chr10:6012802 [GRCh38] Chr10:6054765 [GRCh37] Chr10:10p15.1 |
benign|likely benign |
NM_000417.2(IL2RA):c.*1026G>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000400958] |
Chr10:6011846 [GRCh38] Chr10:6053809 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*889G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000308904] |
Chr10:6011983 [GRCh38] Chr10:6053946 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*1994G>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000355184] |
Chr10:6010878 [GRCh38] Chr10:6052841 [GRCh37] Chr10:10p15.1 |
benign|likely benign |
NM_000417.2(IL2RA):c.*676C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000275033] |
Chr10:6012196 [GRCh38] Chr10:6054159 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*1461T>C |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000332829] |
Chr10:6011411 [GRCh38] Chr10:6053374 [GRCh37] Chr10:10p15.1 |
benign |
NM_000417.2(IL2RA):c.*1549C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000381458] |
Chr10:6011323 [GRCh38] Chr10:6053286 [GRCh37] Chr10:10p15.1 |
benign |
NM_000417.2(IL2RA):c.*1974C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000260367] |
Chr10:6010898 [GRCh38] Chr10:6052861 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*767C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000333666] |
Chr10:6012105 [GRCh38] Chr10:6054068 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*1008G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000357957] |
Chr10:6011864 [GRCh38] Chr10:6053827 [GRCh37] Chr10:10p15.1 |
benign|likely benign |
NM_000417.2(IL2RA):c.367+12A>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000261317] |
Chr10:6024232 [GRCh38] Chr10:6066195 [GRCh37] Chr10:10p15.1 |
benign |
NM_000417.2(IL2RA):c.*1061C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000278090] |
Chr10:6011811 [GRCh38] Chr10:6053774 [GRCh37] Chr10:10p15.1 |
likely benign|uncertain significance |
NM_000417.2(IL2RA):c.516C>T (p.His172=) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000262595] |
Chr10:6021545 [GRCh38] Chr10:6063508 [GRCh37] Chr10:10p15.1 |
benign |
NM_000417.2(IL2RA):c.656-14T>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000314512] |
Chr10:6019513 [GRCh38] Chr10:6061476 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*1186C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000336762] |
Chr10:6011686 [GRCh38] Chr10:6053649 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*1772A>C |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000360891] |
Chr10:6011100 [GRCh38] Chr10:6053063 [GRCh37] Chr10:10p15.1 |
likely benign|uncertain significance |
NM_000417.3(IL2RA):c.84G>A (p.Pro28=) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000265094]|not specified [RCV000455255] |
Chr10:6026006 [GRCh38] Chr10:6067969 [GRCh37] Chr10:10p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000417.2(IL2RA):c.*888C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000363551] |
Chr10:6011984 [GRCh38] Chr10:6053947 [GRCh37] Chr10:10p15.1 |
likely benign|uncertain significance |
NM_000417.2(IL2RA):c.*1702C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000265776] |
Chr10:6011170 [GRCh38] Chr10:6053133 [GRCh37] Chr10:10p15.1 |
benign |
NM_000417.2(IL2RA):c.*1267G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000281841] |
Chr10:6011605 [GRCh38] Chr10:6053568 [GRCh37] Chr10:10p15.1 |
benign |
NM_000417.2(IL2RA):c.669G>A (p.Gln223=) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000392457] |
Chr10:6019486 [GRCh38] Chr10:6061449 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*2055T>C |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000300083] |
Chr10:6010817 [GRCh38] Chr10:6052780 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*1041C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000342408] |
Chr10:6011831 [GRCh38] Chr10:6053794 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.584-6C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000366874] |
Chr10:6019947 [GRCh38] Chr10:6061910 [GRCh37] Chr10:10p15.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000417.2(IL2RA):c.*2108T>G |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000392802] |
Chr10:6010764 [GRCh38] Chr10:6052727 [GRCh37] Chr10:10p15.1 |
benign|likely benign |
NM_000417.2(IL2RA):c.*969G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000393110] |
Chr10:6011903 [GRCh38] Chr10:6053866 [GRCh37] Chr10:10p15.1 |
benign|likely benign |
NM_000417.2(IL2RA):c.*414C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000281064] |
Chr10:6012458 [GRCh38] Chr10:6054421 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*1575G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000271727] |
Chr10:6011297 [GRCh38] Chr10:6053260 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*1154_*1158dup |
duplication |
Interleukin 2 receptor, alpha, deficiency of [RCV000390310] |
Chr10:6011713..6011714 [GRCh38] Chr10:6053676..6053677 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*884C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000269195] |
Chr10:6011988 [GRCh38] Chr10:6053951 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*672A>G |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000330212] |
Chr10:6012200 [GRCh38] Chr10:6054163 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.167G>A (p.Arg56His) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000380637] |
Chr10:6025923 [GRCh38] Chr10:6067886 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*410_*411del |
deletion |
Interleukin 2 receptor, alpha, deficiency of [RCV000317477] |
Chr10:6012461..6012462 [GRCh38] Chr10:6054424..6054425 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*1650G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000384812] |
Chr10:6011222 [GRCh38] Chr10:6053185 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*1454A>G |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000385554] |
Chr10:6011418 [GRCh38] Chr10:6053381 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*2178T>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000349304] |
Chr10:6010694 [GRCh38] Chr10:6052657 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*103C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000285488] |
Chr10:6012769 [GRCh38] Chr10:6054732 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*1539T>C |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000296603] |
Chr10:6011333 [GRCh38] Chr10:6053296 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.-211C>G |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000322520] |
Chr10:6062362 [GRCh38] Chr10:6104325 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.427G>A (p.Val143Met) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000353808] |
Chr10:6021634 [GRCh38] Chr10:6063597 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*1574C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000326816] |
Chr10:6011298 [GRCh38] Chr10:6053261 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*93G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000342757] |
Chr10:6012779 [GRCh38] Chr10:6054742 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.*2191T>G |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000292241] |
Chr10:6010681 [GRCh38] Chr10:6052644 [GRCh37] Chr10:10p15.1 |
benign |
NM_000417.2(IL2RA):c.691G>C (p.Glu231Gln) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000641699] |
Chr10:6019464 [GRCh38] Chr10:6061427 [GRCh37] Chr10:10p15.1 |
likely benign|uncertain significance |
NM_001308243.2(IL2RA):c.368-394C>T |
single nucleotide variant |
not provided [RCV000593539] |
Chr10:6019893 [GRCh38] Chr10:6061856 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.368-2A>G |
single nucleotide variant |
not provided [RCV000593621] |
Chr10:6021695 [GRCh38] Chr10:6063658 [GRCh37] Chr10:10p15.1 |
pathogenic |
NM_000417.2(IL2RA):c.76G>C (p.Asp26His) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000641698] |
Chr10:6026014 [GRCh38] Chr10:6067977 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.193A>G (p.Met65Val) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000641700] |
Chr10:6025897 [GRCh38] Chr10:6067860 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.584-8del |
deletion |
Diabetes mellitus, insulin-dependent, 10 [RCV000768237]|Interleukin 2 receptor, alpha, deficiency of [RCV000912228] |
Chr10:6019949 [GRCh38] Chr10:6061912 [GRCh37] Chr10:10p15.1 |
likely benign|uncertain significance |
GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1 |
copy number loss |
See cases [RCV000446357] |
Chr10:136361..8850609 [GRCh37] Chr10:10p15.3-14 |
pathogenic |
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 |
copy number gain |
See cases [RCV000447131] |
Chr10:100026..30278548 [GRCh37] Chr10:10p15.3-11.23 |
pathogenic |
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)x3 |
copy number gain |
See cases [RCV000445989] |
Chr10:2116123..8856296 [GRCh37] Chr10:10p15.3-14 |
uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 |
copy number gain |
See cases [RCV000448750] |
Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_000417.2(IL2RA):c.272C>T (p.Thr91Met) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001083317]|not provided [RCV000498899] |
Chr10:6024339 [GRCh38] Chr10:6066302 [GRCh37] Chr10:10p15.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) |
copy number gain |
See cases [RCV000511389] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 |
copy number gain |
See cases [RCV000510893] |
Chr10:100026..50961640 [GRCh37] Chr10:10p15.3-q11.23 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 |
copy number gain |
See cases [RCV000510861] |
Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_000417.2(IL2RA):c.64+15308T>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000541415] |
Chr10:6046780 [GRCh38] Chr10:6088743 [GRCh37] Chr10:10p15.1 |
benign |
GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1 |
copy number loss |
See cases [RCV000512541] |
Chr10:100026..12842179 [GRCh37] Chr10:10p15.3-13 |
pathogenic |
NM_000417.2(IL2RA):c.517G>A (p.Gly173Arg) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000697789] |
Chr10:6021544 [GRCh38] Chr10:6063507 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.297A>T (p.Glu99Asp) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000700724] |
Chr10:6024314 [GRCh38] Chr10:6066277 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.700A>G (p.Ile234Val) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000698549] |
Chr10:6019455 [GRCh38] Chr10:6061418 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.337A>G (p.Met113Val) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000697017] |
Chr10:6024274 [GRCh38] Chr10:6066237 [GRCh37] Chr10:10p15.1 |
uncertain significance |
Single allele |
deletion |
Hypoparathyroidism-deafness-renal disease syndrome [RCV000735901] |
Chr10:4689760..19120882 [GRCh37] Chr10:10p15.1-12.31 |
pathogenic |
GRCh37/hg19 10p15.1(chr10:5670275-6281215)x3 |
copy number gain |
not provided [RCV000737004] |
Chr10:5670275..6281215 [GRCh37] Chr10:10p15.1 |
benign |
Single allele |
duplication |
Schizophrenia [RCV000754118] |
Chr10:3076972..6208037 [GRCh38] Chr10:10p15.2-15.1 |
likely pathogenic |
GRCh37/hg19 10p15.3-13(chr10:69083-12887271)x3 |
copy number gain |
not provided [RCV000749463] |
Chr10:69083..12887271 [GRCh37] Chr10:10p15.3-13 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 |
copy number gain |
not provided [RCV000749464] |
Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 |
copy number gain |
not provided [RCV000749465] |
Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3 |
pathogenic |
NM_000417.3(IL2RA):c.498C>T (p.Ser166=) |
single nucleotide variant |
not provided [RCV000927361] |
Chr10:6021563 [GRCh38] Chr10:6063526 [GRCh37] Chr10:10p15.1 |
likely benign |
NM_000417.3(IL2RA):c.367+9T>A |
single nucleotide variant |
not provided [RCV000883514] |
Chr10:6024235 [GRCh38] Chr10:6066198 [GRCh37] Chr10:10p15.1 |
likely benign |
NM_000417.3(IL2RA):c.788G>A (p.Arg263Gln) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001069141] |
Chr10:6018059 [GRCh38] Chr10:6060022 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.256+1G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000779031] |
Chr10:6025833 [GRCh38] Chr10:6067796 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.729G>T (p.Val243=) |
single nucleotide variant |
not provided [RCV000924922] |
Chr10:6018118 [GRCh38] Chr10:6060081 [GRCh37] Chr10:10p15.1 |
likely benign |
NM_000417.3(IL2RA):c.357G>A (p.Ala119=) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000886750] |
Chr10:6024254 [GRCh38] Chr10:6066217 [GRCh37] Chr10:10p15.1 |
likely benign |
NM_000417.2(IL2RA):c.246C>A (p.Cys82Ter) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000814187] |
Chr10:6025844 [GRCh38] Chr10:6067807 [GRCh37] Chr10:10p15.1 |
pathogenic |
NM_000417.2(IL2RA):c.256+5_256+13del |
deletion |
Interleukin 2 receptor, alpha, deficiency of [RCV000804955] |
Chr10:6025821..6025829 [GRCh38] Chr10:6067784..6067792 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.584-12TC[4] |
microsatellite |
not provided [RCV000936193] |
Chr10:6019947..6019948 [GRCh38] Chr10:6061910..6061911 [GRCh37] Chr10:10p15.1 |
likely benign |
NM_000417.2(IL2RA):c.773G>A (p.Gly258Glu) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000811521] |
Chr10:6018074 [GRCh38] Chr10:6060037 [GRCh37] Chr10:10p15.1 |
uncertain significance |
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 |
copy number gain |
not provided [RCV000848062] |
Chr10:100026..15273144 [GRCh37] Chr10:10p15.3-13 |
pathogenic |
NM_000417.2(IL2RA):c.655+3G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000813373] |
Chr10:6019867 [GRCh38] Chr10:6061830 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.182G>T (p.Gly61Val) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000807888] |
Chr10:6025908 [GRCh38] Chr10:6067871 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.263G>A (p.Arg88Gln) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000794961] |
Chr10:6024348 [GRCh38] Chr10:6066311 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.417T>G (p.Ile139Met) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000795201] |
Chr10:6021644 [GRCh38] Chr10:6063607 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.332G>A (p.Ser111Asn) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000812221] |
Chr10:6024279 [GRCh38] Chr10:6066242 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.547A>G (p.Ile183Val) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000810659] |
Chr10:6021514 [GRCh38] Chr10:6063477 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.2(IL2RA):c.484G>A (p.Gly162Ser) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000795536] |
Chr10:6021577 [GRCh38] Chr10:6063540 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.756C>T (p.Ser252=) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000937319] |
Chr10:6018091 [GRCh38] Chr10:6060054 [GRCh37] Chr10:10p15.1 |
likely benign |
NM_000417.3(IL2RA):c.100G>A (p.Ala34Thr) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000988324] |
Chr10:6025990 [GRCh38] Chr10:6067953 [GRCh37] Chr10:10p15.1 |
likely pathogenic |
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 |
copy number gain |
not provided [RCV000848090] |
Chr10:100026..15273144 [GRCh37] Chr10:10p15.3-13 |
pathogenic |
NM_000417.3(IL2RA):c.499G>A (p.Val167Ile) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001222052] |
Chr10:6021562 [GRCh38] Chr10:6063525 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.491C>T (p.Ala164Val) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001223663] |
Chr10:6021570 [GRCh38] Chr10:6063533 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.731C>T (p.Ala244Val) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001241523] |
Chr10:6018116 [GRCh38] Chr10:6060079 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.180C>T (p.Ser60=) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001225527] |
Chr10:6025910 [GRCh38] Chr10:6067873 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*1443G>C |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001108521] |
Chr10:6011429 [GRCh38] Chr10:6053392 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*55T>C |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001108604] |
Chr10:6012817 [GRCh38] Chr10:6054780 [GRCh37] Chr10:10p15.1 |
benign |
NM_000417.3(IL2RA):c.*1643C>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001106295] |
Chr10:6011229 [GRCh38] Chr10:6053192 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.225C>G (p.Ser75=) |
single nucleotide variant |
not provided [RCV000931694] |
Chr10:6025865 [GRCh38] Chr10:6067828 [GRCh37] Chr10:10p15.1 |
likely benign |
NM_000417.3(IL2RA):c.693G>A (p.Glu231=) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000908066] |
Chr10:6019462 [GRCh38] Chr10:6061425 [GRCh37] Chr10:10p15.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_000417.3(IL2RA):c.777C>A (p.Leu259=) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000882423] |
Chr10:6018070 [GRCh38] Chr10:6060033 [GRCh37] Chr10:10p15.1 |
likely benign|conflicting interpretations of pathogenicity |
NM_000417.3(IL2RA):c.456C>T (p.Cys152=) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV000982081] |
Chr10:6021605 [GRCh38] Chr10:6063568 [GRCh37] Chr10:10p15.1 |
likely benign |
NM_000417.3(IL2RA):c.*1619G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001106296] |
Chr10:6011253 [GRCh38] Chr10:6053216 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*752A>G |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001106391] |
Chr10:6012120 [GRCh38] Chr10:6054083 [GRCh37] Chr10:10p15.1 |
likely benign |
NM_000417.3(IL2RA):c.*513T>C |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001106393] |
Chr10:6012359 [GRCh38] Chr10:6054322 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.257-11A>G |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001106479] |
Chr10:6024365 [GRCh38] Chr10:6066328 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.693G>C (p.Glu231Asp) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001103424] |
Chr10:6019462 [GRCh38] Chr10:6061425 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*1024G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001105261] |
Chr10:6011848 [GRCh38] Chr10:6053811 [GRCh37] Chr10:10p15.1 |
benign |
NM_000417.3(IL2RA):c.656-11_656-10del |
microsatellite |
Interleukin 2 receptor, alpha, deficiency of [RCV000913008] |
Chr10:6019509..6019510 [GRCh38] Chr10:6061472..6061473 [GRCh37] Chr10:10p15.1 |
likely benign |
NM_000417.3(IL2RA):c.609C>T (p.Pro203=) |
single nucleotide variant |
not provided [RCV000935306] |
Chr10:6019916 [GRCh38] Chr10:6061879 [GRCh37] Chr10:10p15.1 |
likely benign |
NM_000417.3(IL2RA):c.*1044T>C |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001103344] |
Chr10:6011828 [GRCh38] Chr10:6053791 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*963A>C |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001105262] |
Chr10:6011909 [GRCh38] Chr10:6053872 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*2144T>G |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001105168] |
Chr10:6010728 [GRCh38] Chr10:6052691 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*2131A>G |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001105169] |
Chr10:6010741 [GRCh38] Chr10:6052704 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.252C>T (p.Ser84=) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001106480] |
Chr10:6025838 [GRCh38] Chr10:6067801 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*1500T>C |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001108520] |
Chr10:6011372 [GRCh38] Chr10:6053335 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*261A>G |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001108602] |
Chr10:6012611 [GRCh38] Chr10:6054574 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*183C>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001108603] |
Chr10:6012689 [GRCh38] Chr10:6054652 [GRCh37] Chr10:10p15.1 |
likely benign |
NM_000417.3(IL2RA):c.-26C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001108672] |
Chr10:6062177 [GRCh38] Chr10:6104140 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*1766T>C |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001106294] |
Chr10:6011106 [GRCh38] Chr10:6053069 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*471G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001106394] |
Chr10:6012401 [GRCh38] Chr10:6054364 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.328C>G (p.Gln110Glu) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001106478] |
Chr10:6024283 [GRCh38] Chr10:6066246 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.678G>T (p.Met226Ile) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001103425] |
Chr10:6019477 [GRCh38] Chr10:6061440 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.-68G>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001108673] |
Chr10:6062219 [GRCh38] Chr10:6104182 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NC_000010.11:g.(?_6012852)_(6064303_?)dup |
duplication |
Interleukin 2 receptor, alpha, deficiency of [RCV001031845] |
Chr10:6054815..6106266 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.347T>C (p.Val116Ala) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001218513] |
Chr10:6024264 [GRCh38] Chr10:6066227 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.683C>T (p.Ala228Val) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001050692] |
Chr10:6019472 [GRCh38] Chr10:6061435 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.537G>T (p.Gln179His) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001247884] |
Chr10:6021524 [GRCh38] Chr10:6063487 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.229G>A (p.Asp77Asn) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001047436] |
Chr10:6025861 [GRCh38] Chr10:6067824 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*599C>G |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001106392] |
Chr10:6012273 [GRCh38] Chr10:6054236 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.280G>A (p.Val94Met) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001040555] |
Chr10:6024331 [GRCh38] Chr10:6066294 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.4G>T (p.Asp2Tyr) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001228228] |
Chr10:6062148 [GRCh38] Chr10:6104111 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*1426G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001108522] |
Chr10:6011446 [GRCh38] Chr10:6053409 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*1084C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001103343] |
Chr10:6011788 [GRCh38] Chr10:6053751 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*1042G>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001103345] |
Chr10:6011830 [GRCh38] Chr10:6053793 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.616C>T (p.Arg206Cys) |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001042827] |
Chr10:6019909 [GRCh38] Chr10:6061872 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.*895T>A |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001105263] |
Chr10:6011977 [GRCh38] Chr10:6053940 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.655+4C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001105349] |
Chr10:6019866 [GRCh38] Chr10:6061829 [GRCh37] Chr10:10p15.1 |
uncertain significance |
NM_000417.3(IL2RA):c.584-11C>T |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [RCV001105350] |
Chr10:6019952 [GRCh38] Chr10:6061915 [GRCh37] Chr10:10p15.1 |
uncertain significance |