26333[Gene ID] - ClinVar

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

Search results

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	ADGRE2, ADGRE3 +41 more	Copy number gain	See cases	GUncertain significance
Select item 2547052	NM_030901.2(OR7A17):c.908T>C (p.Met303Thr)	OR7A17 (M303T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619781	NM_030901.2(OR7A17):c.886G>C (p.Asp296His)	OR7A17 (D296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466757	NM_030901.2(OR7A17):c.821C>T (p.Ala274Val)	OR7A17 (A274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206627	NM_030901.2(OR7A17):c.706A>G (p.Lys236Glu)	OR7A17 (K236E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206626	NM_030901.2(OR7A17):c.674T>C (p.Ile225Thr)	OR7A17 (I225T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487661	NM_030901.2(OR7A17):c.487G>A (p.Val163Ile)	OR7A17 (V163I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219209	NM_030901.2(OR7A17):c.481T>G (p.Leu161Val)	OR7A17 (L161V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206625	NM_030901.2(OR7A17):c.455C>T (p.Ala152Val)	OR7A17 (A152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206624	NM_030901.2(OR7A17):c.445T>C (p.Trp149Arg)	OR7A17 (W149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374231	NM_030901.2(OR7A17):c.379T>A (p.Cys127Ser)	OR7A17 (C127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395746	NM_030901.2(OR7A17):c.364C>T (p.Arg122Trp)	OR7A17 (R122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529706	NM_030901.2(OR7A17):c.305G>C (p.Cys102Ser)	OR7A17 (C102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317015	NM_030901.2(OR7A17):c.293T>C (p.Ile98Thr)	OR7A17 (I98T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470626	NM_030901.2(OR7A17):c.278C>T (p.Thr93Ile)	OR7A17 (T93I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355655	NM_030901.2(OR7A17):c.152C>T (p.Ser51Leu)	OR7A17 (S51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411501	NM_030901.2(OR7A17):c.121G>A (p.Gly41Arg)	OR7A17 (G41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338436	NM_030901.2(OR7A17):c.112A>G (p.Thr38Ala)	OR7A17 (T38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206628	NM_030901.2(OR7A17):c.73C>G (p.Pro25Ala)	OR7A17 (P25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377372	NM_030901.2(OR7A17):c.23G>A (p.Gly8Glu)	OR7A17 (G8E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614878	NM_030901.2(OR7A17):c.4G>A (p.Glu2Lys)	OR7A17 (E2K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2684887	GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3	ADGRE2, AKAP8 +55 more	Copy number gain	not provided	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442476	GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1	ADGRE2, AKAP8 +45 more	Copy number loss	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

Search results

Items: 35