18479[HGNC] - ClinVar

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

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 151013	GRCh38/hg38 15q21.3(chr15:54998301-55749136)x3	CCPG1, DNAAF4 +28 more	Copy number gain	See cases	GUncertain significance
Select item 2462029	NM_016304.3(RSL24D1):c.438A>T (p.Glu146Asp)	RSL24D1 (E146D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156675	NM_016304.3(RSL24D1):c.412C>T (p.Leu138Phe)	RSL24D1 (L138F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280884	NM_016304.3(RSL24D1):c.401T>C (p.Ile134Thr)	RSL24D1 (I134T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289305	NM_016304.3(RSL24D1):c.395A>G (p.His132Arg)	RSL24D1 (H132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287202	NM_016304.3(RSL24D1):c.306G>T (p.Lys102Asn)	RSL24D1 (K102N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279277	NM_016304.3(RSL24D1):c.275C>T (p.Ala92Val)	RSL24D1 (A92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156674	NM_016304.3(RSL24D1):c.244C>G (p.Gln82Glu)	RSL24D1 (Q82E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315546	NM_016304.3(RSL24D1):c.227A>G (p.Asn76Ser)	RSL24D1 (N76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542303	NM_016304.3(RSL24D1):c.57G>A (p.Met19Ile)	RSL24D1 (M19I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606990	NM_016304.3(RSL24D1):c.16T>C (p.Cys6Arg)	RSL24D1 (C6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2685513	GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1	TMOD2, USP50 +43 more	Copy number loss	not provided	GPathogenic
Select item 1809173	GRCh37/hg19 15q21.3(chr15:55346224-55967397)x3	CCPG1, DNAAF4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1526453	GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908)	CEP152, COPS2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 815720	GRCh37/hg19 15q21.3(chr15:55453040-55510474)x1	RAB27A, RSL24D1	Copy number loss	not provided	GUncertain significance
Select item 688584	GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3	AP4E1, ARPP19 +47 more	Copy number gain	not provided	GPathogenic
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564202	GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3	LYSMD2, ARPP19 +36 more	Copy number gain	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 226247	GRCh37/hg19 15q21.3(chr15:55354493-55956320)	RAB27A, PYGO1 +6 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31