ClinVar for Gene (Select 400935) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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
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 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2684940	GRCh37/hg19 22q13.33(chr22:49839613-50740220)x3	ALG12, BRD1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684939	GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	ACR, ADM2 +54 more	Copy number gain	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2653360	NM_001371417.1(IL17REL):c.603A>G (p.Gln201=)	IL17REL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653359	NM_001371417.1(IL17REL):c.663C>T (p.Thr221=)	IL17REL	Single nucleotide variant (synonymous variant)	not provided	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 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 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 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 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 2580335	GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1	ACR, ADM2 +34 more	Copy number loss	Chromosome 22q13 duplication syndrome	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 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 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 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 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 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 2425301	NC_000022.10:g.(?_50297486)_(51066207_?)del	ADM2, ALG12 +29 more	Deletion	not provided	GPathogenic
Select item 2423149	NC_000022.10:g.(?_50167881)_(51066207_?)del	ADM2, ALG12 +31 more	Deletion	not provided	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 1808266	GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	ADM2, ALG12 +64 more	Copy number loss	not provided	GPathogenic
Select item 1808203	GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1	CDPF1, CELSR1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807848	GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807836	GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1	ACR, ADM2 +50 more	Copy number loss	not provided	GPathogenic
Select item 1807817	GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	ACR, ADM2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1703551	GRCh37/hg19 22q13.33(chr22:49602454-51183869)	ACR, ADM2 +33 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 1526745	GRCh37/hg19 22q13.33(chr22:49729747-51197838)	ACR, ADM2 +33 more	Copy number loss	not specified	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1441357	NC_000022.10:g.(?_50167881)_(51066207_?)dup	ADM2, ALG12 +31 more	Duplication	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1340060	GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 1328447	GRCh37/hg19 22q13.31-13.33(chr22:47554026-51186813)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 1180542	GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1	ALG12, ARSA +33 more	Copy number loss	not provided	GPathogenic
Select item 1071720	NC_000022.10:g.(?_50297466)_(51066227_?)del	ADM2, ALG12 +29 more	Deletion	ALG12-congenital disorder of glycosylation	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976874	NC_000022.11:g.49181210_50759297del	DENND6B, HDAC10 +190 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976873	NC_000022.11:g.46467175_50759338del	LOC130067779, LOC130067780 +281 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 976871	NC_000022.11:g.48500337_50739785del	ACR, ADM2 +206 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 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 976868	NC_000022.11:g.47447433_50806138del	LOC126863188, LOC129391286 +228 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 976866	NC_000022.11:g.47705262_50739836del	LOC130067774, LOC130067775 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976865	NC_000022.11:g.45708330_50737364del	TRABD, TRABD-AS1 +338 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976864	NC_000022.11:g.46269281_50740560del	ACR, ADM2 +295 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 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976861	NC_000022.11:g.47823120_50759410del	LOC130067781, LOC130067782 +221 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 932299	Single allele	ATXN10, BRD1 +45 more	Copy number loss	22q13.3 interstitial deletion	GPathogenic
Select item 816571	GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 816570	GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3	ADM2, ALG12 +33 more	Copy number gain	not provided	GPathogenic
Select item 816569	GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1	ZBED4, BRD1 +34 more	Copy number loss	not provided	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816237	GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3	PPP6R2, SBF1 +33 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 688513	GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3	ACR, ADM2 +47 more	Copy number gain	not provided	GPathogenic
Select item 685951	GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3	ACR, ADM2 +34 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 685504	GRCh37/hg19 22q13.33(chr22:50346639-50506543)x3	IL17REL, MLC1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 626295	Single allele	ADM2, ALG12 +37 more	Deletion	not provided	GLikely pathogenic
Select item 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 625663	GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264)	ACR, ADM2 +34 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 565052	GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	ACR, ADM2 +77 more	Copy number loss	not provided	GPathogenic

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