ClinVar for Gene (Select 284612) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2685566	GRCh37/hg19 1p13.3(chr1:109944288-110157840)x1	AMIGO1, ATXN7L2 +7 more	Copy number loss	not provided	GUncertain significance
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 2638982	NM_001040709.2(SYPL2):c.435G>A (p.Glu145=)	SYPL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619826	NM_001040709.2(SYPL2):c.422A>C (p.Asn141Thr)	SYPL2 (N141T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556653	NM_001040709.2(SYPL2):c.131T>C (p.Leu44Pro)	SYPL2 (L44P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508532	NM_001040709.2(SYPL2):c.79C>T (p.Arg27Cys)	SYPL2 (R27C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494897	NM_001040709.2(SYPL2):c.11C>T (p.Thr4Ile)	SYPL2 (T4I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477355	NM_001040709.2(SYPL2):c.722G>A (p.Gly241Glu)	SYPL2 (G241E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2395297	NM_001040709.2(SYPL2):c.193C>T (p.Arg65Cys)	SYPL2 (R65C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388632	NM_001040709.2(SYPL2):c.412C>T (p.Arg138Cys)	SYPL2 (R138C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329710	NM_001040709.2(SYPL2):c.470C>T (p.Thr157Ile)	SYPL2 (T157I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240470	NM_001040709.2(SYPL2):c.280C>T (p.Pro94Ser)	SYPL2 (P94S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230587	NM_001040709.2(SYPL2):c.263G>A (p.Arg88Gln)	SYPL2 (R88Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1340040	GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1	AKNAD1, AMIGO1 +30 more	Copy number loss	not provided	GUncertain significance
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
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)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129931064, LOC129931065 +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 149612	GRCh38/hg38 1p13.3(chr1:108970247-109794222)x3	AMIGO1, AMPD2 +72 more	Copy number gain	See cases	GUncertain significance
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 +332 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 30