| NM_000417.2(IL2RA):c.62_64+1del |
microsatellite |
Interleukin 2 receptor, alpha, deficiency of [RCV000015780] |
Chr10:6062088..6062091 [GRCh38]
Chr10:6104051..6104054 [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 |
association |
| GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3 |
copy number gain |
Global developmental delay [RCV000051132]|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 |
Abnormality of the kidney [RCV000051107]|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 |
Global developmental delay [RCV000052493]|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 |
Toe syndactyly [RCV000052500]|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 |
Global developmental delay [RCV000053507]|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 |
Global developmental delay [RCV000053508]|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 |
Diabetes mellitus, insulin-dependent, 10 [RCV000015781] |
Chr10:6072697 [GRCh38]
Chr10:6114660 [GRCh37]
Chr10:10p15.1 |
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] |
Chr10:6019463 [GRCh38]
Chr10:6061426 [GRCh37]
Chr10:10p15.1 |
pathogenic |
| NM_001308243.2(IL2RA):c.368-409G>A |
single nucleotide variant |
not specified [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] |
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 |
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 |
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 |
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_000417.2(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 |
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 |
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 |
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 |
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 |
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 |
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 |
uncertain significance |
| NM_000417.2(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 |
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 |
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 |
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 |
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] |
Chr10:6011714..6011718 [GRCh38]
Chr10:6053677..6053681 [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 |
uncertain significance |
| NM_001308243.2(IL2RA):c.368-394C>T |
single nucleotide variant |
not specified [RCV000593539] |
Chr10:6019893 [GRCh38]
Chr10:6061856 [GRCh37]
Chr10:10p15.1 |
uncertain significance |
| NM_000417.2(IL2RA):c.368-2A>G |
single nucleotide variant |
Interleukin 2 receptor, alpha, deficiency of [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] |
Chr10:6019949 [GRCh38]
Chr10:6061912 [GRCh37]
Chr10:10p15.1 |
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 [RCV000548410]|not specified [RCV000498899] |
Chr10:6024339 [GRCh38]
Chr10:6066302 [GRCh37]
Chr10:10p15.1 |
benign|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 |
Barakat 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_000417.2(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_000417.2(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_000417.2(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 |
| GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 |
copy number gain |
not provided [RCV000848090] |
Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13 |
pathogenic |
Gene-Chemical Interaction Annotations
