OR10A7[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 2207024	NM_001005280.1(OR10A7):c.7T>G (p.Cys3Gly)	OR10A7 (C3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347771	NM_001005280.1(OR10A7):c.69G>T (p.Met23Ile)	OR10A7 (M23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302386	NM_001005280.1(OR10A7):c.70C>A (p.Gln24Lys)	OR10A7 (Q24K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204481	NM_001005280.1(OR10A7):c.74T>C (p.Val25Ala)	OR10A7 (V25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302385	NM_001005280.1(OR10A7):c.208G>A (p.Glu70Lys)	OR10A7 (E70K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204478	NM_001005280.1(OR10A7):c.214T>G (p.Cys72Gly)	OR10A7 (C72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550345	NM_001005280.1(OR10A7):c.269A>G (p.Lys90Arg)	OR10A7 (K90R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308256	NM_001005280.1(OR10A7):c.272T>G (p.Ile91Ser)	OR10A7 (I91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268127	NM_001005280.1(OR10A7):c.274A>G (p.Ile92Val)	OR10A7 (I92V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204479	NM_001005280.1(OR10A7):c.309C>A (p.Phe103Leu)	OR10A7 (F103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369770	NM_001005280.1(OR10A7):c.328T>C (p.Ser110Pro)	OR10A7 (S110P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393521	NM_001005280.1(OR10A7):c.362A>G (p.Asp121Gly)	OR10A7 (D121G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400882	NM_001005280.1(OR10A7):c.376A>G (p.Ile126Val)	OR10A7 (I126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302384	NM_001005280.1(OR10A7):c.443C>T (p.Ser148Phe)	OR10A7 (S148F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207550	NM_001005280.1(OR10A7):c.518C>T (p.Ala173Val)	OR10A7 (A173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540359	NM_001005280.1(OR10A7):c.520G>A (p.Val174Met)	OR10A7 (V174M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208311	NM_001005280.1(OR10A7):c.541G>T (p.Gly181Cys)	OR10A7 (G181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204480	NM_001005280.1(OR10A7):c.595G>T (p.Ala199Ser)	OR10A7 (A199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555456	NM_001005280.1(OR10A7):c.628C>T (p.Pro210Ser)	OR10A7 (P210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599019	NM_001005280.1(OR10A7):c.709G>C (p.Ala237Pro)	OR10A7 (A237P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282278	NM_001005280.1(OR10A7):c.709G>A (p.Ala237Thr)	OR10A7 (A237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353070	NM_001005280.1(OR10A7):c.757G>A (p.Gly253Arg)	OR10A7 (G253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289692	NM_001005280.1(OR10A7):c.902T>C (p.Val301Ala)	OR10A7 (V301A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 29