OR7A5[gene] - ClinVar

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Items: 41

	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 2208438	NM_017506.2(OR7A5):c.910C>T (p.His304Tyr)	OR7A5, OR7C1 (H304Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345064	NM_017506.2(OR7A5):c.845C>G (p.Thr282Ser)	OR7A5, OR7C1 (T282S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303381	NM_017506.2(OR7A5):c.805C>T (p.His269Tyr)	OR7A5, OR7C1 (H269Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518646	NM_017506.2(OR7A5):c.796C>T (p.Arg266Cys)	OR7A5, OR7C1 (R266C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511165	NM_017506.2(OR7A5):c.776A>G (p.Tyr259Cys)	OR7A5, OR7C1 (Y259C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206632	NM_017506.2(OR7A5):c.758G>A (p.Gly253Asp)	OR7A5, OR7C1 (G253D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206631	NM_017506.2(OR7A5):c.742G>C (p.Val248Leu)	OR7A5, OR7C1 (V248L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349674	NM_017506.2(OR7A5):c.734T>G (p.Leu245Arg)	OR7A5, OR7C1 (L245R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622158	NM_017506.2(OR7A5):c.680C>T (p.Ala227Val)	OR7A5, OR7C1 (A227V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344716	NM_017506.2(OR7A5):c.652T>C (p.Tyr218His)	OR7A5, OR7C1 (Y218H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285324	NM_017506.2(OR7A5):c.635C>G (p.Thr212Ser)	OR7A5, OR7C1 (T212S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370077	NM_017506.2(OR7A5):c.622G>A (p.Gly208Arg)	OR7A5, OR7C1 (G208R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206630	NM_017506.2(OR7A5):c.608T>C (p.Val203Ala)	OR7A5, OR7C1 (V203A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2242449	NM_017506.2(OR7A5):c.597A>G (p.Ile199Met)	OR7A5, OR7C1 (I199M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2394306	NM_017506.2(OR7A5):c.494G>A (p.Arg165Gln)	OR7A5, OR7C1 (R165Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466455	NM_017506.2(OR7A5):c.406A>G (p.Met136Val)	OR7A5, OR7C1 (M136V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590986	NM_017506.2(OR7A5):c.365G>A (p.Arg122Gln)	OR7A5, OR7C1 (R122Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333701	NM_017506.2(OR7A5):c.355G>A (p.Ala119Thr)	OR7A5, OR7C1 (A119T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615044	NM_017506.2(OR7A5):c.305A>G (p.Tyr102Cys)	OR7A5, OR7C1 (Y102C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2602315	NM_017506.2(OR7A5):c.275T>C (p.Ile92Thr)	OR7A5, OR7C1 (I92T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258245	NM_017506.2(OR7A5):c.215G>T (p.Cys72Phe)	OR7A5, OR7C1 (C72F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278392	NM_017506.2(OR7A5):c.167A>C (p.His56Pro)	OR7A5, OR7C1 (H56P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3341554	NM_017506.2(OR7A5):c.141G>A (p.Leu47=)	OR7A5, OR7C1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2215376	NM_017506.2(OR7A5):c.130C>A (p.Leu44Ile)	OR7A5, OR7C1 (L44I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518125	NM_017506.2(OR7A5):c.83T>C (p.Phe28Ser)	OR7A5, OR7C1 (F28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204913	NM_017506.2(OR7A5):c.62C>G (p.Pro21Arg)	OR7A5, OR7C1 (P21R)	Single nucleotide variant (missense variant +1 more)	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)	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

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Items: 41