1686[HGNC] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	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 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 2622716	NM_000560.4(CD53):c.134A>G (p.His45Arg)	CD53, LRIF1 (H45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140616	NM_000560.4(CD53):c.163G>A (p.Val55Met)	CD53, LRIF1 (V55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298327	NM_000560.4(CD53):c.371G>A (p.Arg124His)	CD53, LRIF1 (R124H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239437	NM_000560.4(CD53):c.424C>G (p.Leu142Val)	CD53, LRIF1 (L142V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468155	NM_000560.4(CD53):c.478T>C (p.Ser160Pro)	CD53, LRIF1 (S160P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140617	NM_000560.4(CD53):c.553A>G (p.Ile185Val)	CD53, LRIF1 (I185V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300501	NM_000560.4(CD53):c.569T>C (p.Ile190Thr)	CD53, LRIF1 (I131T +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 3062733	GRCh37/hg19 1p13.3-13.2(chr1:111277065-111804157)x1	CD53, CEPT1 +4 more	Copy number loss	not specified	GUncertain significance
Select item 2685588	GRCh37/hg19 1p13.3(chr1:111346683-111679264)x1	CD53, DRAM2 +1 more	Copy number loss	not provided	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 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	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 688916	GRCh37/hg19 1p13.3-13.2(chr1:110994179-112360446)x1	ADORA3, ATP5PB +19 more	Copy number loss	not provided	GPathogenic
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

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Items: 25