19253[HGNC] - 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 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 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 1679643	Single allele	LOC130067853, LOC130067854 +117 more	Duplication	not provided	GUncertain significance
Select item 146870	GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3	ADM2, ARSA +123 more	Copy number gain	See cases	GUncertain significance
Select item 151373	GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1	ACR, ADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 147719	GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3	ACR, ADM2 +84 more	Copy number gain	See cases	GBenign
Select item 160981	GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3	ADM2, CHKB +52 more	Copy number gain	See cases	GUncertain significance
Select item 32818	GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3	ADM2, CHKB +52 more	Copy number gain	See cases	GUncertain significance
Select item 3217909	NM_001242898.2(PPP6R2):c.187C>G (p.Gln63Glu)	PPP6R2 (Q63E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1120017	NM_001242898.2(PPP6R2):c.228-326A>G	PPP6R2, LOC126863186	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B3	GPathogenic
Select item 2271712	NM_001242898.2(PPP6R2):c.286C>G (p.Leu96Val)	LOC126863186, PPP6R2 (L96V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309568	NM_001242898.2(PPP6R2):c.313C>G (p.Leu105Val)	LOC126863186, PPP6R2 (L105V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217916	NM_001242898.2(PPP6R2):c.443A>G (p.Lys148Arg)	PPP6R2 (K148R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309569	NM_001242898.2(PPP6R2):c.472G>A (p.Gly158Ser)	PPP6R2 (G158S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370964	NM_001242898.2(PPP6R2):c.502C>T (p.Arg168Cys)	PPP6R2 (R6C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457536	NM_001242898.2(PPP6R2):c.523C>T (p.Pro175Ser)	PPP6R2 (P13S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528577	NM_001242898.2(PPP6R2):c.684G>C (p.Gln228His)	PPP6R2 (Q66H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330857	NM_001242898.2(PPP6R2):c.778C>T (p.Arg260Trp)	PPP6R2 (R260W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393168	NM_001242898.2(PPP6R2):c.910G>A (p.Val304Ile)	PPP6R2 (V304I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309575	NM_001242898.2(PPP6R2):c.995T>A (p.Ile332Asn)	PPP6R2 (I332N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351950	NM_001242898.2(PPP6R2):c.995T>C (p.Ile332Thr)	PPP6R2 (I170T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245419	NM_001242898.2(PPP6R2):c.1007A>T (p.Glu336Val)	PPP6R2 (E335V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262220	NM_001242898.2(PPP6R2):c.1046T>G (p.Leu349Arg)	PPP6R2 (L187R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338244	NM_001242898.2(PPP6R2):c.1069A>G (p.Asn357Asp)	PPP6R2 (N195D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217905	NM_001242898.2(PPP6R2):c.1259C>T (p.Pro420Leu)	PPP6R2 (P421L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366289	NM_001242898.2(PPP6R2):c.1276C>T (p.Arg426Trp)	PPP6R2 (R425W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369787	NM_001242898.2(PPP6R2):c.1285G>A (p.Glu429Lys)	PPP6R2 (E267K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2378377	NM_001242898.2(PPP6R2):c.1306A>G (p.Ser436Gly)	PPP6R2 (S435G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270478	NM_001242898.2(PPP6R2):c.1324A>G (p.Met442Val)	PPP6R2 (M280V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653381	NM_001242898.2(PPP6R2):c.1401-535C>T	PPP6R2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653382	NM_001242898.2(PPP6R2):c.1421G>A (p.Arg474His)	PPP6R2 (R312H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2277828	NM_001242898.2(PPP6R2):c.1450G>A (p.Ala484Thr)	PPP6R2 (A483T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217906	NM_001242898.2(PPP6R2):c.1454A>G (p.Asn485Ser)	PPP6R2 (N484S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523692	NM_001242898.2(PPP6R2):c.1483C>A (p.Pro495Thr)	PPP6R2 (P495T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602070	NM_001242898.2(PPP6R2):c.1493C>T (p.Thr498Met)	PPP6R2 (T497M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248286	NM_001242898.2(PPP6R2):c.1504G>A (p.Glu502Lys)	PPP6R2 (E340K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309572	NM_001242898.2(PPP6R2):c.1526C>T (p.Ala509Val)	PPP6R2 (A347V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237052	NM_001242898.2(PPP6R2):c.1541G>A (p.Arg514His)	PPP6R2 (R352H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217907	NM_001242898.2(PPP6R2):c.1583G>A (p.Arg528His)	PPP6R2 (R529H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024724	NM_001242898.2(PPP6R2):c.1594G>A (p.Val532Met)	PPP6R2 (V370M +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3217908	NM_001242898.2(PPP6R2):c.1673C>A (p.Ser558Tyr)	PPP6R2 (S558Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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