ClinVar for Gene (Select 10768) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3508681	NM_006621.7(AHCYL1):c.640C>T (p.Arg214Cys)	AHCYL1 (R167C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3508675	NM_006621.7(AHCYL1):c.19A>C (p.Met7Leu)	AHCYL1 (M7L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3508666	NM_006621.7(AHCYL1):c.140A>C (p.Asp47Ala)	AHCYL1 (D47A)	Single nucleotide variant (5 prime UTR variant +1 more)	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 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 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 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 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 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 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 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 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
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 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 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 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 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +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 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 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

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Links from Gene

Items: 32