ClinVar for Gene (Select 55586) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294925	NM_017584.6(MIOX):c.592A>G (p.Met198Val)	MIOX (M198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294922	NM_017584.6(MIOX):c.160G>A (p.Asp54Asn)	MIOX (D54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294921	NM_017584.6(MIOX):c.666C>G (p.Phe222Leu)	MIOX (F222L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294920	NM_017584.6(MIOX):c.616A>G (p.Lys206Glu)	MIOX (K206E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126682	NM_017584.6(MIOX):c.86G>A (p.Arg29Gln)	MIOX (R29Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126680	NM_017584.6(MIOX):c.811T>C (p.Tyr271His)	MIOX (Y271H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126679	NM_017584.6(MIOX):c.80G>A (p.Ser27Asn)	MIOX (S27N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126678	NM_017584.6(MIOX):c.739C>T (p.Arg247Trp)	MIOX (R247W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126677	NM_017584.6(MIOX):c.556G>A (p.Asp186Asn)	MIOX (D186N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126676	NM_017584.6(MIOX):c.349C>T (p.His117Tyr)	MIOX (H117Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126675	NM_017584.6(MIOX):c.271G>A (p.Val91Ile)	MIOX (V91I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126674	NM_017584.6(MIOX):c.199T>C (p.Ser67Pro)	MIOX (S67P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126672	NM_017584.6(MIOX):c.136C>T (p.Leu46Phe)	MIOX (L46F)	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 2684943	GRCh37/hg19 22q13.33(chr22:50797048-51044946)x3	ADM2, CHKB +12 more	Copy number gain	not provided	GUncertain significance
Select item 2684942	GRCh37/hg19 22q13.33(chr22:50661573-51166665)x3	ADM2, ARSA +20 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 2616178	NM_017584.6(MIOX):c.386T>C (p.Leu129Pro)	MIOX (L129P)	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 2514831	NM_017584.6(MIOX):c.790G>A (p.Val264Met)	MIOX (V264M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462781	NM_017584.6(MIOX):c.26C>T (p.Pro9Leu)	MIOX (P9L)	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 2424331	NC_000022.10:g.(?_50904370)_(50968138_?)dup	SBF1, ADM2 +5 more	Duplication	not provided	GUncertain significance
Select item 2423149	NC_000022.10:g.(?_50167881)_(51066207_?)del	ADM2, ALG12 +31 more	Deletion	not provided	GPathogenic
Select item 2406053	NM_017584.6(MIOX):c.529G>A (p.Gly177Arg)	MIOX (G177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397505	NM_017584.6(MIOX):c.115C>T (p.Arg39Cys)	MIOX (R39C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375602	NM_017584.6(MIOX):c.345G>T (p.Trp115Cys)	MIOX (W115C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347840	NM_017584.6(MIOX):c.803G>A (p.Arg268Gln)	MIOX (R268Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300590	NM_017584.6(MIOX):c.193G>C (p.Gly65Arg)	MIOX (G65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267686	NM_017584.6(MIOX):c.460G>A (p.Val154Met)	MIOX (V154M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267224	NM_017584.6(MIOX):c.298T>C (p.Phe100Leu)	MIOX (F100L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261179	NM_017584.6(MIOX):c.260C>T (p.Ser87Leu)	MIOX (S87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255771	NM_017584.6(MIOX):c.833A>G (p.Tyr278Cys)	MIOX (Y278C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254766	NM_017584.6(MIOX):c.719T>C (p.Leu240Pro)	MIOX (L240P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240163	NM_017584.6(MIOX):c.421G>A (p.Gly141Ser)	MIOX (G141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227193	NM_017584.6(MIOX):c.817G>A (p.Gly273Arg)	MIOX (G273R)	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 1679643	Single allele	LOC130067853, LOC130067854 +117 more	Duplication	not provided	GUncertain significance
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 1512005	NC_000022.10:g.(?_50885571)_(50965732_?)dup	ADM2, LMF2 +5 more	Duplication	not provided	GUncertain significance
Select item 1441357	NC_000022.10:g.(?_50167881)_(51066207_?)dup	ADM2, ALG12 +31 more	Duplication	ALG12-congenital disorder of glycosylation	GUncertain significance
Select item 1407208	NC_000022.10:g.(?_50885571)_(51021210_?)del	CPT1B, KLHDC7B +10 more	Deletion	Megaconial type congenital muscular dystrophy	GPathogenic
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 979615	GRCh37/hg19 22q13.33(chr22:50791825-51181078)x1	ADM2, SHANK3 +15 more	Copy number loss	not provided	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 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 816238	GRCh37/hg19 22q13.33(chr22:50893448-51060012)x3	LMF2, MIOX +11 more	Copy number gain	not provided	GUncertain significance
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 788341	NM_017584.6(MIOX):c.652C>T (p.Arg218Trp)	MIOX (R218W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 771546	NM_017584.6(MIOX):c.329A>G (p.His110Arg)	MIOX (H110R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710094	NM_017584.6(MIOX):c.637-5C>T	MIOX	Single nucleotide variant (intron variant)	not provided	GBenign
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 687577	GRCh37/hg19 22q13.33(chr22:50870751-50947129)x3	ADM2, LMF2 +4 more	Copy number gain	not provided	GUncertain significance
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 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

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