IL17REL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	See cases	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57672	GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	See cases	GPathogenic
Select item 57947	GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	LOC130067697, LOC130067698 +396 more	Copy number gain	See cases	GPathogenic
Select item 57264	GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	ACR, ADM2 +371 more	Copy number loss	See cases	GPathogenic
Select item 57673	GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1	ACR, ADM2 +343 more	Copy number loss	See cases	GPathogenic
Select item 976865	NC_000022.11:g.45708330_50737364del	TRABD, TRABD-AS1 +338 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976872	NC_000022.11:g.45819932_50737806del	ADM2, ALG12 +333 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57398	GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1	ACR, ADM2 +315 more	Copy number loss	See cases	GPathogenic
Select item 976864	NC_000022.11:g.46269281_50740560del	ACR, ADM2 +295 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 155420	GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1	LOC130067809, LOC130067810 +288 more	Copy number loss	See cases	GPathogenic
Select item 976873	NC_000022.11:g.46467175_50759338del	LOC130067779, LOC130067780 +281 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976869	NC_000022.11:g.46489644_50806138del	LOC126863185, LOC126863186 +282 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152137	GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1	ACR, ADM2 +260 more	Copy number loss	See cases	GPathogenic
Select item 146310	GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1	LOC130067846, LOC130067847 +240 more	Copy number loss	See cases	GPathogenic
Select item 57674	GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1	LOC126863173, LOC126863174 +235 more	Copy number loss	See cases	GPathogenic
Select item 57675	GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1	ACR, ADM2 +230 more	Copy number loss	See cases	GPathogenic
Select item 976868	NC_000022.11:g.47447433_50806138del	LOC126863188, LOC129391286 +228 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976863	NC_000022.11:g.47513236_50806138del	ACR, ADM2 +226 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976866	NC_000022.11:g.47705262_50739836del	LOC130067774, LOC130067775 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57193	GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1	ACR, ADM2 +221 more	Copy number loss	See cases	GPathogenic
Select item 976861	NC_000022.11:g.47823120_50759410del	LOC130067781, LOC130067782 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57701	GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1	ACR, ADM2 +211 more	Copy number loss	See cases	GPathogenic
Select item 154522	GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1	ACR, ADM2 +210 more	Copy number loss	See cases	GPathogenic
Select item 976871	NC_000022.11:g.48500337_50739785del	ACR, ADM2 +206 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976867	NC_000022.11:g.48500344_50780581del	LOC126863183, LOC126863184 +207 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 148302	GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1	ACR, ADM2 +207 more	Copy number loss	See cases	GPathogenic
Select item 147807	GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1	ACR, ADM2 +204 more	Copy number loss	See cases	GPathogenic
Select item 57703	GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1	ACR, ADM2 +204 more	Copy number loss	See cases	GPathogenic
Select item 155644	GRCh38/hg38 22q13.32-13.33(chr22:48904534-50138137)x3	ALG12, BRD1 +74 more	Copy number gain	See cases	GUncertain significance
Select item 976874	NC_000022.11:g.49181210_50759297del	DENND6B, HDAC10 +190 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 144225	GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1	ACR, ADM2 +186 more	Copy number loss	See cases	GPathogenic
Select item 144377	GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 57704	GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 146391	GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 155641	GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1	LOC121853048, LOC125446259 +184 more	Copy number loss	See cases	GPathogenic
Select item 150859	GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 2579283	GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1	ACR, ADM2 +178 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1703238	Single allele	ACR, LOC130067783 +166 more	Duplication	Chromosome 22q13 duplication syndrome	GPathogenic
Select item 2653356	NM_001371417.1(IL17REL):c.1444A>C (p.Arg482=)	IL17REL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2653357	NM_001371417.1(IL17REL):c.1431G>T (p.Pro477=)	IL17REL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2269412	NM_001371417.1(IL17REL):c.1220A>G (p.Gln407Arg)	IL17REL (N313D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285783	NM_001371417.1(IL17REL):c.1199A>G (p.Lys400Arg)	IL17REL (S378G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109197	NM_001371417.1(IL17REL):c.1194G>A (p.Arg398=)	IL17REL (G304E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109196	NM_001371417.1(IL17REL):c.1176G>A (p.Gln392=)	IL17REL (R298K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518914	NM_001371417.1(IL17REL):c.1170C>A (p.His390Gln)	IL17REL (H390Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360482	NM_001371417.1(IL17REL):c.1164C>T (p.Pro388=)	IL17REL (P366L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109195	NM_001371417.1(IL17REL):c.1075G>A (p.Glu359Lys)	IL17REL (E359K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214681	NM_001371417.1(IL17REL):c.1064G>A (p.Arg355Gln)	IL17REL (R283Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356202	NM_001371417.1(IL17REL):c.1000C>T (p.Pro334Ser)	IL17REL (P334S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272813	NM_001371417.1(IL17REL):c.946G>A (p.Gly316Ser)	IL17REL (G316S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2653358	NM_001371417.1(IL17REL):c.936G>C (p.Gly312=)	IL17REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2524134	NM_001371417.1(IL17REL):c.892G>A (p.Ala298Thr)	IL17REL (A298T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363295	NM_001371417.1(IL17REL):c.826G>A (p.Ala276Thr)	IL17REL (A204T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212150	NM_001371417.1(IL17REL):c.810T>G (p.Phe270Leu)	IL17REL (F270L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590233	NM_001371417.1(IL17REL):c.790C>G (p.Arg264Gly)	IL17REL (R192G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544822	NM_001371417.1(IL17REL):c.746C>T (p.Pro249Leu)	IL17REL (P177L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247796	NM_001371417.1(IL17REL):c.692T>A (p.Val231Glu)	IL17REL (V231E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653359	NM_001371417.1(IL17REL):c.663C>T (p.Thr221=)	IL17REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653360	NM_001371417.1(IL17REL):c.603A>G (p.Gln201=)	IL17REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2207090	NM_001371417.1(IL17REL):c.557A>C (p.Lys186Thr)	IL17REL (K114T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553481	NM_001371417.1(IL17REL):c.371G>A (p.Arg124Gln)	IL17REL (R67Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285784	NM_001371417.1(IL17REL):c.355G>T (p.Ala119Ser)	IL17REL (A62S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589123	NM_001371417.1(IL17REL):c.332C>G (p.Thr111Arg)	IL17REL (T54R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290897	NM_001371417.1(IL17REL):c.290G>A (p.Arg97Gln)	IL17REL (R97Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411957	NM_001371417.1(IL17REL):c.283C>T (p.Arg95Cys)	IL17REL (R95C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406703	NM_001371417.1(IL17REL):c.260G>A (p.Arg87His)	IL17REL (R30H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216519	NM_001371417.1(IL17REL):c.254G>A (p.Arg85His)	IL17REL (R28H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285725	NM_001371417.1(IL17REL):c.242C>T (p.Ala81Val)	IL17REL (A81V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109193	NM_001371417.1(IL17REL):c.206C>T (p.Ser69Phe)	IL17REL (S12F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456902	NM_001371417.1(IL17REL):c.182C>T (p.Ser61Leu)	IL17REL (S61L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062443	GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	ACR, ADM2 +34 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 3062441	GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	ARSA, BRD1 +33 more	Copy number loss	not specified	GPathogenic

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