IL1RAPL1[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 148082	GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	GPM6B, GPR143 +919 more	Copy number loss	See cases	GPathogenic
Select item 148051	GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	IL1RAPL1, IL2RG +1398 more	Copy number gain	See cases	GPathogenic
Select item 148018	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	LOC130068090, LOC130068091 +1013 more	Copy number loss	See cases	GPathogenic
Select item 146239	GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1	LOC116309138, LOC116309139 +530 more	Copy number loss	See cases	GPathogenic
Select item 145623	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	MIR362, MIR3690 +1024 more	Copy number gain	See cases	GPathogenic
Select item 144263	GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1	LOC130067937, LOC130067936 +983 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 59181	GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1	ACE2, ACE2-DT +818 more	Copy number loss	See cases	GPathogenic
Select item 57339	GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	LOC130068111, LOC130068112 +1022 more	Copy number loss	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 155281	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	RPGR, RPS6KA3 +1041 more	Copy number loss	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 152052	GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	LOC130068171, LOC130068172 +1069 more	Copy number loss	See cases	GPathogenic
Select item 150510	GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	ASMT, ASMTL +1475 more	Copy number loss	See cases	GPathogenic
Select item 150498	GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	LOC130068270, LOC130068271 +1163 more	Copy number loss	See cases	GPathogenic
Select item 148957	GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1	ACE2, ACE2-DT +536 more	Copy number loss	See cases	GPathogenic
Select item 148821	GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	LOC129391293, LOC129391294 +1628 more	Copy number loss	See cases	GPathogenic
Select item 148478	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	NBDY, NDP +1163 more	Copy number loss	See cases	GPathogenic
Select item 148356	GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	ACE2, ACE2-DT +1008 more	Copy number loss	See cases	GPathogenic
Select item 148339	GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	LOC130068093, LOC130068094 +909 more	Copy number loss	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 146857	GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	FANCB, FGD1 +1932 more	Copy number loss	See cases	GPathogenic
Select item 145166	GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	ACE2, ACE2-DT +1163 more	Copy number loss	See cases	GPathogenic
Select item 144544	GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	PDHA1, PDK3 +1163 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 144335	GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1	LOC116309152, LOC116309153 +1024 more	Copy number loss	See cases	GPathogenic
Select item 144310	GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	TIMM8A, TIMP1 +2631 more	Copy number loss	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 57161	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	FAM223B, FAM226A +2628 more	Copy number loss	See cases	GPathogenic
Select item 57160	GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	LOC126863207, LOC126863208 +2628 more	Copy number gain	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 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2631 more	Copy number gain	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	LOC130068054, LOC130068055 +2631 more	Copy number loss	See cases	GPathogenic
Select item 59186	GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	USP27X-DT, USP51 +1154 more	Copy number loss	See cases	GPathogenic
Select item 58555	GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	LOC126863302, LOC126863303 +2631 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 145973	GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1	LOC130068050, LOC130068051 +533 more	Copy number loss	See cases	GPathogenic
Select item 155429	GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1	LOC107985657, LOC108251802 +529 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 155063	GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	PAGE2, PAGE2B +1130 more	Copy number loss	See cases	GPathogenic
Select item 153937	GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	LOC130067921, LOC130067922 +1798 more	Copy number gain	See cases	GPathogenic
Select item 153302	GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	LOC130068116, LOC130068117 +986 more	Copy number loss	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 154249	GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	ACE2, ACE2-DT +1216 more	Copy number loss	See cases	GPathogenic
Select item 153753	GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	LOC125467747, LOC125467748 +999 more	Copy number loss	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 59190	GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	PRAF2, PRDX4 +1163 more	Copy number loss	See cases	GPathogenic
Select item 59200	GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	LOC129391306, LOC129391307 +1493 more	Copy number loss	See cases	GPathogenic
Select item 58559	GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3	LOC130067912, LOC130067913 +708 more	Copy number gain	See cases	GPathogenic
Select item 150422	GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	CDKL5, CDR1 +2611 more	Copy number loss	See cases	GPathogenic
Select item 152899	GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	ABCB7, ABCD1 +2603 more	Copy number gain	See cases	GPathogenic
Select item 147627	GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	LOC126863296, LOC126863297 +2593 more	Copy number gain	See cases	GPathogenic
Select item 59202	GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	PDHA1, PDK3 +1130 more	Copy number loss	See cases	GPathogenic
Select item 147683	GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	LOC130068368, LOC130068369 +2593 more	Copy number gain	See cases	GPathogenic
Select item 58586	GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	LOC130067891, LOC130067892 +2595 more	Copy number gain	See cases	GPathogenic
Select item 57225	GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	LOC130068100, LOC130068101 +2585 more	Copy number gain	See cases	GPathogenic
Select item 152748	GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3	ACE2, ACE2-DT +488 more	Copy number gain	See cases	GUncertain significance
Select item 145979	GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	LOC130068028, LOC130068029 +960 more	Copy number loss	See cases	GPathogenic
Select item 149009	GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1	ACE2, ACE2-DT +322 more	Copy number loss	See cases	GPathogenic
Select item 149705	GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	ABCB7, ACE2 +2046 more	Copy number loss	See cases	GPathogenic
Select item 2579271	GRCh38/hg38 Xp22.11-21.1(chrX:23730430-32849918)x3	ACOT9, APOO +113 more	Copy number gain	Polymicrogyria	GPathogenic
Select item 155618	GRCh38/hg38 Xp21.3-11.4(chrX:28218244-37855706)x3	CFAP47, CYBB +64 more	Copy number gain	See cases	GUncertain significance
Select item 149018	GRCh38/hg38 Xp21.3-11.4(chrX:28234352-37850186)x3	CFAP47, CYBB +64 more	Copy number gain	See cases	GUncertain significance
Select item 60288	GRCh38/hg38 Xp21.3(chrX:28415968-28811707)x3	IL1RAPL1, LOC126863234 +1 more	Copy number gain	See cases	GUncertain significance
Select item 444069	NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del	FTHL17, GK +43 more	Deletion	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 368180	NM_014271.4(IL1RAPL1):c.-405T>A	IL1RAPL1	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 21	GUncertain significance
Select item 368181	NM_014271.4(IL1RAPL1):c.-402G>A	IL1RAPL1	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 21	GUncertain significance
Select item 368182	NM_014271.4(IL1RAPL1):c.-302dup	IL1RAPL1	Duplication (5 prime UTR variant)	Non-syndromic X-linked intellectual disability	GUncertain significance
Select item 368184	NM_014271.4(IL1RAPL1):c.-303_-302del	IL1RAPL1	Deletion (5 prime UTR variant)	Non-syndromic X-linked intellectual disability	GUncertain significance
Select item 368183	NM_014271.4(IL1RAPL1):c.-302del	IL1RAPL1	Deletion (5 prime UTR variant)	Non-syndromic X-linked intellectual disability	GBenign
Select item 368185	NM_014271.4(IL1RAPL1):c.-82C>A	IL1RAPL1	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 21	GUncertain significance
Select item 368186	NM_014271.4(IL1RAPL1):c.-39G>A	IL1RAPL1	Single nucleotide variant (5 prime UTR variant)	Intellectual disability, X-linked 21	GBenign
Select item 912343	NM_014271.4(IL1RAPL1):c.-25+14A>C	IL1RAPL1	Single nucleotide variant (intron variant)	Intellectual disability, X-linked 21	GBenign
Select item 2429011	NM_014271.4(IL1RAPL1):c.-25+31A>C	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 58611	GRCh38/hg38 Xp21.3(chrX:28759823-29094411)x2	IL1RAPL1	Copy number gain	See cases	GPathogenic
Select item 155606	GRCh38/hg38 Xp21.3(chrX:28773665-28885326)x3	IL1RAPL1	Copy number gain	See cases	GLikely benign
Select item 1236336	NM_014271.4(IL1RAPL1):c.-24-92G>A	IL1RAPL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 368187	NM_014271.4(IL1RAPL1):c.-20C>T	IL1RAPL1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 281021	NM_014271.4(IL1RAPL1):c.-19G>A	IL1RAPL1	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 2056458	NM_014271.4(IL1RAPL1):c.11C>T (p.Pro4Leu)	IL1RAPL1 (P4L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 368188	NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2075870	NM_014271.4(IL1RAPL1):c.21C>T (p.His7=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2848853	NM_014271.4(IL1RAPL1):c.25A>G (p.Ile9Val)	IL1RAPL1 (I9V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 368189	NM_014271.4(IL1RAPL1):c.36C>T (p.Tyr12=)	IL1RAPL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3067362	NM_014271.4(IL1RAPL1):c.59A>G (p.Lys20Arg)	IL1RAPL1 (K20R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 872758	NM_014271.4(IL1RAPL1):c.61G>T (p.Val21Phe)	IL1RAPL1 (V21F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432844	NM_014271.4(IL1RAPL1):c.82G>A (p.Ala28Thr)	IL1RAPL1 (A28T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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