ClinVar for Gene (Select 26333) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303380	NM_030901.2(OR7A17):c.409A>T (p.Asn137Tyr)	OR7A17 (N137Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303379	NM_030901.2(OR7A17):c.797A>G (p.His266Arg)	OR7A17 (H266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303378	NM_030901.2(OR7A17):c.586G>A (p.Asp196Asn)	OR7A17 (D196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303377	NM_030901.2(OR7A17):c.61C>T (p.Pro21Ser)	OR7A17 (P21S)	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 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 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 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 2619781	NM_030901.2(OR7A17):c.886G>C (p.Asp296His)	OR7A17 (D296H)	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 2547052	NM_030901.2(OR7A17):c.908T>C (p.Met303Thr)	OR7A17 (M303T)	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 2487661	NM_030901.2(OR7A17):c.487G>A (p.Val163Ile)	OR7A17 (V163I)	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 2466757	NM_030901.2(OR7A17):c.821C>T (p.Ala274Val)	OR7A17 (A274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425869	NC_000019.9:g.(?_14847048)_(17394124_?)del	ADGRE2, AKAP8 +57 more	Deletion	not provided	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 2395746	NM_030901.2(OR7A17):c.364C>T (p.Arg122Trp)	OR7A17 (R122W)	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 2374231	NM_030901.2(OR7A17):c.379T>A (p.Cys127Ser)	OR7A17 (C127S)	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 2338436	NM_030901.2(OR7A17):c.112A>G (p.Thr38Ala)	OR7A17 (T38A)	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 2219209	NM_030901.2(OR7A17):c.481T>G (p.Leu161Val)	OR7A17 (L161V)	Single nucleotide variant (missense variant)	not specified	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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
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 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
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 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	ADGRE2, ADGRE3 +41 more	Copy number gain	See cases	GUncertain significance
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 39