ClinVar for Gene (Select 10286) - ClinVar

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

Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260601	NM_005872.3(BCAS2):c.652A>G (p.Lys218Glu)	BCAS2 (K218E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247866	NC_000001.10:g.(?_114437687)_(115576848_?)del	AP4B1, AMPD1 +12 more	Deletion	RASopathy	GUncertain significance
Select item 3133311	NM_005872.3(BCAS2):c.476A>G (p.His159Arg)	BCAS2 (H159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133310	NM_005872.3(BCAS2):c.227G>A (p.Arg76Gln)	BCAS2 (R76Q)	Single nucleotide variant (missense variant)	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 2604051	NM_005872.3(BCAS2):c.477T>G (p.His159Gln)	BCAS2 (H159Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519561	NM_005872.3(BCAS2):c.665G>A (p.Arg222Gln)	BCAS2 (R222Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469191	NM_005872.3(BCAS2):c.379A>G (p.Met127Val)	BCAS2 (M127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	AMPD1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	GUncertain significance
Select item 2286093	NM_005872.3(BCAS2):c.398A>G (p.Asn133Ser)	BCAS2 (N133S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808291	GRCh37/hg19 1p13.2(chr1:114833697-115377089)x1	AMPD1, BCAS2 +5 more	Copy number loss	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 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 814118	GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1	VANGL1, TSHB +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 779064	NM_005872.3(BCAS2):c.10A>G (p.Thr4Ala)	BCAS2 (T4A)	Single nucleotide variant (missense variant)	not provided	GBenign
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 150274	GRCh38/hg38 1p13.2(chr1:114499327-114926423)x1	AMPD1, BCAS2 +19 more	Copy number loss	See cases	GUncertain significance
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 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

Links from Gene

Items: 22