AHCYL1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +332 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 2512391	NM_006621.7(AHCYL1):c.112C>T (p.Pro38Ser)	AHCYL1 (P38S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3098019	NM_006621.7(AHCYL1):c.188T>C (p.Leu63Ser)	AHCYL1 (L63S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531567	NM_006621.7(AHCYL1):c.548A>G (p.Gln183Arg)	AHCYL1 (Q183R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321737	NM_006621.7(AHCYL1):c.587C>T (p.Ala196Val)	AHCYL1 (A196V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599538	NM_006621.7(AHCYL1):c.641G>A (p.Arg214His)	AHCYL1 (R167H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098028	NM_006621.7(AHCYL1):c.784C>G (p.Leu262Val)	AHCYL1 (L262V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245660	NM_006621.7(AHCYL1):c.935A>G (p.Lys312Arg)	AHCYL1 (K312R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527931	NM_006621.7(AHCYL1):c.1180G>A (p.Val394Ile)	AHCYL1, LOC126805824 (V347I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098011	NM_006621.7(AHCYL1):c.1204A>T (p.Thr402Ser)	AHCYL1, LOC126805824 (T402S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309296	NM_006621.7(AHCYL1):c.1231A>G (p.Thr411Ala)	AHCYL1, LOC126805824 (T411A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 686929	GRCh37/hg19 1p13.3(chr1:110295035-110587956)x1	AHCYL1, CSF1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29