IL9R[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 146764	GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	HMGN5, HNRNPH2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130068194, LOC130068195 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC126863191, LOC126863192 +2633 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC130068432, LOC130068433 +2633 more	Copy number loss	See cases	GPathogenic
Select item 144172	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	LOC130068031, LOC130068032 +2633 more	Copy number gain	See cases	GPathogenic
Select item 57087	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	LOC110120594, LOC110120595 +2633 more	Copy number loss	See cases	GPathogenic
Select item 57086	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130067964, LOC130067965 +2633 more	Copy number gain	See cases	GPathogenic
Select item 154558	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	CT45A7, CT45A8 +2632 more	Copy number gain	See cases	GPathogenic
Select item 146861	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 144465	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	ABCB7, ABCD1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 144429	GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	AP1S2, APEX2 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	LOC119407398, LOC119407399 +2632 more	Copy number loss	See cases	GPathogenic
Select item 152900	GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	LOC130068458, LOC130068459 +2633 more	Copy number gain	See cases	GPathogenic
Select item 145995	GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	LOC113875011, LOC113875012 +2633 more	Copy number loss	See cases	GPathogenic
Select item 145162	GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 58553	GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	LOC130068362, LOC130068363 +2632 more	Copy number gain	See cases	GPathogenic
Select item 147257	GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	LOC119407406, LOC119407407 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	ACOT9, ABCB7 +2632 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863301, LOC126863302 +2632 more	Copy number gain	See cases	GPathogenic
Select item 155152	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	LOC126863205, LOC126863206 +2632 more	Copy number gain	See cases	GPathogenic
Select item 152158	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	LOC107985687, LOC107988021 +2632 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 152157	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	LOC130067947, LOC130067948 +2632 more	Copy number gain	See cases	GPathogenic
Select item 151130	GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	CT45A3, CT45A5 +2632 more	Copy number gain	See cases	GPathogenic
Select item 146240	GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	ABCB7, ABCD1 +2102 more	Copy number loss	See cases	GPathogenic
Select item 145974	GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	ABCB7, ABCD1 +2098 more	Copy number loss	See cases	GPathogenic
Select item 155282	GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	ABCB7, ABCD1 +1590 more	Copy number loss	See cases	GPathogenic
Select item 148479	GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	LOC113875008, LOC113875009 +1467 more	Copy number gain	See cases	GPathogenic
Select item 150589	GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	LOC130068588, LOC130068589 +1467 more	Copy number gain	See cases	GPathogenic
Select item 145624	GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	LOC130068848, LOC130068849 +1254 more	Copy number loss	See cases	GPathogenic
Select item 155357	GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	ABCB7, ABCD1 +1249 more	Copy number loss	See cases	GPathogenic
Select item 148019	GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	DNAAF6, DNASE1L1 +1244 more	Copy number loss	See cases	GPathogenic
Select item 155065	GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	ABCD1, ACSL4 +1229 more	Copy number loss	See cases	GPathogenic
Select item 148052	GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	LOC130068886, LOC130068887 +1230 more	Copy number loss	See cases	GPathogenic
Select item 146131	GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	TCP11X2, TENM1 +1225 more	Copy number loss	See cases	GPathogenic
Select item 154252	GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	FAM3A, FAM50A +1206 more	Copy number loss	See cases	GPathogenic
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 146845	GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1	LOC113875015, LOC113875016 +1197 more	Copy number loss	See cases	GPathogenic
Select item 149834	GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	CT45A10, CT45A2 +1193 more	Copy number loss	See cases	GPathogenic
Select item 153436	GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	ABCD1, ACSL4 +1181 more	Copy number loss	See cases	GPathogenic
Select item 150562	GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	LOC130068516, LOC130068517 +1180 more	Copy number loss	See cases	GPathogenic
Select item 144262	GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3	ABCD1, ACSL4 +1169 more	Copy number gain	See cases	GPathogenic
Select item 153756	GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1	ABCD1, ACSL4 +1159 more	Copy number loss	See cases	GPathogenic
Select item 150509	GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1	ABCD1, ACSL4 +1155 more	Copy number loss	See cases	GPathogenic
Select item 153730	GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	LOC130068676, LOC130068677 +1152 more	Copy number loss	See cases	GPathogenic
Select item 145981	GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1	GABRQ, GDI1 +1150 more	Copy number loss	See cases	GPathogenic
Select item 147352	GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3	PLP1, PLS3 +1143 more	Copy number gain	See cases	GPathogenic
Select item 148958	GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	LOC130068811, LOC130068812 +1141 more	Copy number gain	See cases	GPathogenic
Select item 148341	GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1	LOC130068686, LOC130068687 +1075 more	Copy number loss	See cases	GPathogenic
Select item 148822	GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1	LOC130068697, LOC130068698 +1002 more	Copy number loss	See cases	GPathogenic
Select item 149544	GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1	LOC130068869, LOC130068870 +1001 more	Copy number loss	See cases	GPathogenic
Select item 154022	GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1	PLXNB3-AS1, PNCK +996 more	Copy number loss	See cases	GPathogenic
Select item 154510	GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1	ABCD1, ACTRT1 +909 more	Copy number loss	See cases	GPathogenic
Select item 145613	GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1	LOC130068866, LOC130068867 +883 more	Copy number loss	See cases	GPathogenic
Select item 57454	GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1	ABCD1, ACTRT1 +869 more	Copy number loss	See cases	GPathogenic
Select item 153940	GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1	LOC130068664, LOC130068665 +833 more	Copy number loss	See cases	GPathogenic
Select item 153304	GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1	LOC130068670, LOC130068671 +820 more	Copy number loss	See cases	GPathogenic
Select item 148083	GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1	LOC126863326, LOC126863327 +720 more	Copy number loss	See cases	GPathogenic
Select item 146858	GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1	LOC130068749, LOC130068750 +698 more	Copy number loss	See cases	GPathogenic
Select item 57990	GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1	LOC105373367, LOC105373378 +430 more	Copy number loss	See cases	GPathogenic
Select item 148182	GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1	IKBKG, IL9R +427 more	Copy number loss	See cases	GPathogenic
Select item 150932	GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1	ABCD1, AFF2 +418 more	Copy number loss	See cases	GPathogenic
Select item 147764	GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1	ABCD1, AFF2 +390 more	Copy number loss	See cases	GPathogenic
Select item 149706	GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1	ABCD1, AFF2 +378 more	Copy number loss	See cases	GPathogenic
Select item 57059	GRCh38/hg38 Xq28(chrX:149989929-156022206)x3	ABCD1, ARHGAP4 +289 more	Copy number gain	See cases	GPathogenic
Select item 57273	GRCh38/hg38 Xq28(chrX:150036146-156022206)x3	ABCD1, ARHGAP4 +288 more	Copy number gain	See cases	GPathogenic
Select item 148424	GRCh38/hg38 Xq28(chrX:153276277-156003242)x3	ABCD1, ARHGAP4 +212 more	Copy number gain	See cases	GPathogenic
Select item 1684654	Single allele	IDH3G, PDZD4 +200 more	Deletion	Immunodeficiency 33 +5 more	GPathogenic
Select item 1342389	NC_000023.11:g.(154612552_154656872)_(156005236_156038495)del	BRCC3, CLIC2 +64 more	Deletion	not provided	GPathogenic
Select item 146792	GRCh38/hg38 Xq28(chrX:154679854-156003229)x1	BRCC3, CLIC2 +58 more	Copy number loss	See cases	GPathogenic
Select item 149697	GRCh38/hg38 Xq28(chrX:155348480-156003242)x3	F8A2, F8A3 +15 more	Copy number gain	See cases	GUncertain significance
Select item 145940	GRCh38/hg38 Xq28(chrX:155348480-156016920)x3	F8A2, F8A3 +16 more	Copy number gain	See cases	GLikely benign
Select item 147927	GRCh38/hg38 Xq28(chrX:155434676-156022206)x3	F8A3, H2AB3 +11 more	Copy number gain	See cases	GUncertain significance
Select item 154936	GRCh38/hg38 Xq28(chrX:155532532-156003229)x0	IL9R, LOC107522039 +5 more	Copy number loss	See cases	GPathogenic
Select item 147712	GRCh38/hg38 Xq28(chrX:155699559-156022206)x1	IL9R, LOC107522039 +4 more	Copy number loss	See cases	GPathogenic
Select item 60449	GRCh38/hg38 Xq28(chrX:155717169-156022206)x3	IL9R, LOC107522039 +4 more	Copy number gain	See cases	GUncertain significance
Select item 154756	GRCh38/hg38 Xq28(chrX:155745034-156003229)x0	IL9R, LOC107522039 +3 more	Copy number loss	See cases	GLikely benign
Select item 153131	GRCh38/hg38 Xq28(chrX:155775219-156003242)x1	IL9R, SPRY3 +1 more	Copy number loss	See cases	GLikely benign
Select item 148905	GRCh38/hg38 Xq28(chrX:155800088-156003242)x1	IL9R, VAMP7	Copy number loss	See cases	GBenign
Select item 148714	GRCh38/hg38 Xq28(chrX:155844642-156003242)x0	IL9R, VAMP7	Copy number loss	See cases	GLikely benign
Select item 151851	GRCh38/hg38 Xq28(chrX:155889104-156020513)x3	IL9R, VAMP7 +1 more	Copy number gain	See cases	GBenign
Select item 144188	GRCh38/hg38 Xq28(chrX:155951870-156022206)x1	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 145203	GRCh38/hg38 Xq28(chrX:155971728-156004327)x1	IL9R	Copy number loss	See cases	GBenign
Select item 144089	GRCh38/hg38 Xq28(chrX:155980375-156013167)x1	IL9R	Copy number loss	See cases	GBenign
Select item 59659	GRCh38/hg38 Xq28(chrX:155980375-156022206)x1	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 57500	GRCh38/hg38 Xq28(chrX:155980375-156013167)x0	IL9R	Copy number loss	See cases	GBenign
Select item 57248	GRCh38/hg38 Xq28(chrX:155980375-156010307)x1	IL9R	Copy number loss	See cases	GBenign
Select item 144127	GRCh38/hg38 Xq28(chrX:155998122-156022206)x1	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 59662	GRCh38/hg38 Xq28(chrX:155998122-156013167)x1	IL9R	Copy number loss	See cases	GBenign
Select item 57513	GRCh38/hg38 Xq28(chrX:155998122-156022206)x0	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 145684	GRCh38/hg38 Xq28(chrX:155999253-156010898)x3	IL9R	Copy number gain	See cases	GBenign
Select item 161054	GRCh38/hg38 Xq28(chrX:156001591-156022206)x0	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 161053	GRCh38/hg38 Xq28(chrX:156001591-156022206)x1	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 144120	GRCh38/hg38 Xq28(chrX:156001591-156022206)x1	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 785714	NM_002186.3(IL9R):c.254+10G>A	IL9R	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783917	NM_002186.3(IL9R):c.573C>T (p.Ala191=)	IL9R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 145129	GRCh38/hg38 Xq28(chrX:156006941-156026127)x1	IL9R, WASIR1	Copy number loss	See cases	GBenign
Select item 145128	GRCh38/hg38 Xq28(chrX:156006941-156026127)x3	IL9R, WASIR1	Copy number gain	See cases	GBenign/Likely benign
Select item 145124	GRCh38/hg38 Xq28(chrX:156006941-156020513)x4	IL9R, WASIR1	Copy number gain	See cases	GBenign
Select item 769193	NM_002186.3(IL9R):c.991G>A (p.Gly331Arg)	IL9R (G331R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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