ACCS[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 154372	GRCh38/hg38 11p12-11.2(chr11:39684826-44845260)x1	ACCS, ACCSL +72 more	Copy number loss	See cases	GPathogenic
Select item 149051	GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)x3	ACCS, ACCSL +42 more	Copy number gain	See cases	GLikely pathogenic
Select item 144293	GRCh38/hg38 11p12-11.2(chr11:40688674-44913409)x3	ACCS, ACCSL +74 more	Copy number gain	See cases	GUncertain significance
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC132089937, LOC132089938 +112 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 1707462	Single allele	ACCS, ACCSL +64 more	Duplication	not specified	GUncertain significance
Select item 2409644	NM_032592.4(ACCS):c.58T>C (p.Cys20Arg)	ACCS (C20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321169	NM_032592.4(ACCS):c.110C>T (p.Ser37Phe)	ACCS (S37F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369058	NM_032592.4(ACCS):c.142C>T (p.Arg48Cys)	ACCS (R48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136093	NM_032592.4(ACCS):c.143G>A (p.Arg48His)	ACCS (R48H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528349	NM_032592.4(ACCS):c.260A>T (p.Asp87Val)	ACCS (D87V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136097	NM_032592.4(ACCS):c.307A>G (p.Thr103Ala)	ACCS (T103A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261425	NM_032592.4(ACCS):c.400G>A (p.Asp134Asn)	ACCS (D134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261418	NM_032592.4(ACCS):c.425G>A (p.Arg142Gln)	ACCS (R142Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508771	NM_032592.4(ACCS):c.445C>G (p.Leu149Val)	ACCS (L149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324590	NM_032592.4(ACCS):c.485A>T (p.Glu162Val)	ACCS (E162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261431	NM_032592.4(ACCS):c.595A>G (p.Thr199Ala)	ACCS (T199A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709994	NM_032592.4(ACCS):c.606G>A (p.Val202=)	ACCS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2492211	NM_032592.4(ACCS):c.608G>A (p.Cys203Tyr)	ACCS (C203Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3136107	NM_032592.4(ACCS):c.614A>G (p.Tyr205Cys)	ACCS (Y205C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712076	NM_032592.4(ACCS):c.662G>A (p.Gly221Glu)	ACCS (G221E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2300495	NM_032592.4(ACCS):c.709G>A (p.Ala237Thr)	ACCS (A237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136114	NM_032592.4(ACCS):c.859G>A (p.Glu287Lys)	ACCS (E287K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214279	NM_032592.4(ACCS):c.950T>A (p.Val317Glu)	ACCS (V317E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373870	NM_032592.4(ACCS):c.976G>A (p.Gly326Arg)	ACCS (G326R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327661	NM_032592.4(ACCS):c.997G>C (p.Gly333Arg)	ACCS (G333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715960	NM_032592.4(ACCS):c.1035C>T (p.Ala345=)	ACCS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2601967	NM_032592.4(ACCS):c.1102C>T (p.Arg368Trp)	ACCS (R368W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485460	NM_032592.4(ACCS):c.1120A>G (p.Asn374Asp)	ACCS (N374D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311878	NM_032592.4(ACCS):c.1121A>G (p.Asn374Ser)	ACCS (N374S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383450	NM_032592.4(ACCS):c.1136C>T (p.Pro379Leu)	ACCS (P379L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541001	NM_032592.4(ACCS):c.1172A>G (p.Tyr391Cys)	ACCS (Y391C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383451	NM_032592.4(ACCS):c.1216C>T (p.Arg406Cys)	ACCS (R406C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288614	NM_032592.4(ACCS):c.1225G>A (p.Gly409Ser)	ACCS (G409S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602691	NM_032592.4(ACCS):c.1229T>C (p.Phe410Ser)	ACCS (F410S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468915	NM_032592.4(ACCS):c.1300C>T (p.Arg434Cys)	ACCS (R434C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136082	NM_032592.4(ACCS):c.1301G>A (p.Arg434His)	ACCS (R434H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136084	NM_032592.4(ACCS):c.1328C>T (p.Ser443Phe)	ACCS (S443F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307084	NM_032592.4(ACCS):c.1390G>A (p.Val464Ile)	ACCS (V464I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136088	NM_032592.4(ACCS):c.1418G>A (p.Arg473Lys)	ACCS (R473K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710006	NM_032592.4(ACCS):c.1465C>T (p.Arg489Cys)	ACCS (R489C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3136094	NM_032592.4(ACCS):c.1466G>A (p.Arg489His)	ACCS (R489H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809500	GRCh37/hg19 11p11.2(chr11:44039234-44111005)x1	ACCS, ACCSL	Copy number loss	not provided	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703555	GRCh37/hg19 11p11.2(chr11:43769957-44952669)	ACCS, ACCSL +7 more	Copy number loss	Potocki-Shaffer syndrome	GPathogenic
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979923	GRCh37/hg19 11p12-11.2(chr11:43223479-44266544)x3	ALKBH3, API5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815430	GRCh37/hg19 11p11.2(chr11:43757860-44118731)x3	HSD17B12, EXT2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815429	GRCh37/hg19 11p11.2(chr11:43664817-44889240)x3	CD82, C11orf96 +7 more	Copy number gain	not provided	GUncertain significance
Select item 563808	GRCh37/hg19 11p11.2(chr11:44039233-44101807)x1	ACCSL, ACCS	Copy number loss	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 57