ClinVar for Gene (Select 10390) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266303	NM_006090.5(CEPT1):c.19A>G (p.Thr7Ala)	CEPT1 (T7A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266302	NM_006090.5(CEPT1):c.59T>C (p.Val20Ala)	CEPT1 (V20A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266301	NM_006090.5(CEPT1):c.1156C>T (p.Arg386Cys)	CEPT1 (R386C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3143111	NM_006090.5(CEPT1):c.686T>C (p.Ile229Thr)	CEPT1 (I229T)	Single nucleotide variant (missense variant +2 more)	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 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 2606515	NM_006090.5(CEPT1):c.785G>A (p.Cys262Tyr)	CEPT1 (C262Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603138	NM_006090.5(CEPT1):c.283A>G (p.Ile95Val)	CEPT1 (I95V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560224	NM_006090.5(CEPT1):c.1190C>G (p.Ser397Cys)	CEPT1 (S397C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544030	NM_006090.5(CEPT1):c.941A>G (p.Lys314Arg)	CEPT1 (K314R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526209	NM_006090.5(CEPT1):c.533A>G (p.Asn178Ser)	CEPT1 (N178S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 2348918	NM_006090.5(CEPT1):c.134G>A (p.Arg45Lys)	CEPT1 (R45K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327921	NM_006090.5(CEPT1):c.119C>T (p.Thr40Ile)	CEPT1 (T40I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306148	NM_006090.5(CEPT1):c.167A>G (p.Tyr56Cys)	CEPT1 (Y56C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807942	GRCh37/hg19 1p13.3(chr1:111507804-111713672)x3	CEPT1, DRAM2	Copy number gain	not provided	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	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 1012057	NC_000001.10:g.(?_111506243)_(111745058_?)dup	CEPT1, DENND2D +2 more	Duplication	not provided	GUncertain significance
Select item 775055	NM_006090.5(CEPT1):c.358A>G (p.Ile120Val)	CEPT1 (I120V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 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 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 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