54456[geneid] - 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 1679643	Single allele	LOC130067853, LOC130067854 +117 more	Duplication	not provided	GUncertain significance
Select item 153101	GRCh38/hg38 22q13.33(chr22:50055231-50202728)x1	LOC125446261, LOC130067807 +24 more	Copy number loss	See cases	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 2277045	NM_018995.3(MOV10L1):c.19A>G (p.Lys7Glu)	MOV10L1 (K7E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295632	NM_018995.3(MOV10L1):c.61G>C (p.Glu21Gln)	MOV10L1 (E21Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340410	NM_018995.3(MOV10L1):c.85G>C (p.Glu29Gln)	MOV10L1 (E29Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368159	NM_018995.3(MOV10L1):c.118G>A (p.Val40Ile)	MOV10L1 (V20I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240247	NM_018995.3(MOV10L1):c.118G>C (p.Val40Leu)	MOV10L1 (V20L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295635	NM_018995.3(MOV10L1):c.148G>A (p.Asp50Asn)	MOV10L1 (D50N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200779	NM_018995.3(MOV10L1):c.170T>C (p.Met57Thr)	MOV10L1 (M37T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281391	NM_018995.3(MOV10L1):c.223C>A (p.Gln75Lys)	MOV10L1 (Q55K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526342	NM_018995.3(MOV10L1):c.224A>G (p.Gln75Arg)	MOV10L1 (Q55R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332718	NM_018995.3(MOV10L1):c.233T>C (p.Ile78Thr)	MOV10L1 (I58T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483392	NM_018995.3(MOV10L1):c.239T>C (p.Val80Ala)	MOV10L1 (V60A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200887	NM_018995.3(MOV10L1):c.299A>G (p.Asp100Gly)	MOV10L1 (D80G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206462	NM_018995.3(MOV10L1):c.313G>A (p.Asp105Asn)	MOV10L1 (D85N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653363	NM_018995.3(MOV10L1):c.391G>A (p.Ala131Thr)	MOV10L1 (A111T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2615801	NM_018995.3(MOV10L1):c.422C>G (p.Ser141Cys)	MOV10L1 (S121C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200930	NM_018995.3(MOV10L1):c.439G>A (p.Glu147Lys)	MOV10L1 (E147K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200935	NM_018995.3(MOV10L1):c.443G>C (p.Gly148Ala)	MOV10L1 (G128A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200938	NM_018995.3(MOV10L1):c.487A>T (p.Ile163Phe)	MOV10L1 (I143F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200943	NM_018995.3(MOV10L1):c.490C>T (p.Arg164Trp)	MOV10L1 (R164W +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3200946	NM_018995.3(MOV10L1):c.510C>G (p.Ser170Arg)	MOV10L1 (S170R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376456	NM_018995.3(MOV10L1):c.511G>A (p.Glu171Lys)	MOV10L1 (E171K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1238404	NM_018995.3(MOV10L1):c.544C>T (p.Arg182Cys)	MOV10L1 (R162C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2403379	NM_018995.3(MOV10L1):c.653G>A (p.Arg218Gln)	MOV10L1 (R218Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1328947	NM_018995.3(MOV10L1):c.743+5G>A	MOV10L1	Single nucleotide variant (intron variant)	Azoospermia	GPathogenic
Select item 2462132	NM_018995.3(MOV10L1):c.779A>G (p.Tyr260Cys)	MOV10L1 (Y240C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2263520	NM_018995.3(MOV10L1):c.830C>T (p.Thr277Met)	MOV10L1 (T257M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200962	NM_018995.3(MOV10L1):c.854G>A (p.Gly285Glu)	MOV10L1 (G285E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200970	NM_018995.3(MOV10L1):c.973A>G (p.Lys325Glu)	MOV10L1 (K305E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511900	NM_018995.3(MOV10L1):c.991G>A (p.Val331Met)	MOV10L1 (V311M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481586	NM_018995.3(MOV10L1):c.1028C>T (p.Ser343Leu)	MOV10L1 (S343L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357527	NM_018995.3(MOV10L1):c.1094G>A (p.Ser365Asn)	MOV10L1 (S345N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517782	NM_018995.3(MOV10L1):c.1108A>G (p.Asn370Asp)	MOV10L1 (N350D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348128	NM_018995.3(MOV10L1):c.1229A>G (p.Lys410Arg)	MOV10L1 (K410R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351996	NM_018995.3(MOV10L1):c.1232C>A (p.Thr411Asn)	MOV10L1 (T391N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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