OR6C70[gene] - ClinVar

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Items: 31

	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 2460828	NM_001005499.1(OR6C70):c.893C>G (p.Ala298Gly)	OR6C70 (A298G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206494	NM_001005499.1(OR6C70):c.842C>T (p.Pro281Leu)	OR6C70 (P281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210639	NM_001005499.1(OR6C70):c.772A>C (p.Ile258Leu)	OR6C70 (I258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303318	NM_001005499.1(OR6C70):c.754A>T (p.Ser252Cys)	OR6C70 (S252C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524577	NM_001005499.1(OR6C70):c.704C>A (p.Ala235Asp)	OR6C70 (A235D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303319	NM_001005499.1(OR6C70):c.602C>T (p.Ala201Val)	OR6C70 (A201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587916	NM_001005499.1(OR6C70):c.593T>A (p.Phe198Tyr)	OR6C70 (F198Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206493	NM_001005499.1(OR6C70):c.587T>C (p.Ile196Thr)	OR6C70 (I196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352950	NM_001005499.1(OR6C70):c.535A>C (p.Ile179Leu)	OR6C70 (I179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206492	NM_001005499.1(OR6C70):c.526A>G (p.Ile176Val)	OR6C70 (I176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482289	NM_001005499.1(OR6C70):c.487A>G (p.Asn163Asp)	OR6C70 (N163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607241	NM_001005499.1(OR6C70):c.463T>G (p.Phe155Val)	OR6C70 (F155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342703	NM_001005499.1(OR6C70):c.385C>T (p.Arg129Cys)	OR6C70 (R129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355205	NM_001005499.1(OR6C70):c.307A>G (p.Ile103Val)	OR6C70 (I103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620557	NM_001005499.1(OR6C70):c.297G>T (p.Leu99Phe)	OR6C70 (L99F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206491	NM_001005499.1(OR6C70):c.250G>A (p.Val84Ile)	OR6C70 (V84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477778	NM_001005499.1(OR6C70):c.248T>C (p.Ile83Thr)	OR6C70 (I83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346750	NM_001005499.1(OR6C70):c.242T>A (p.Ile81Asn)	OR6C70 (I81N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618211	NM_001005499.1(OR6C70):c.220G>T (p.Ala74Ser)	OR6C70 (A74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411236	NM_001005499.1(OR6C70):c.130A>G (p.Ile44Val)	OR6C70 (I44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274224	NM_001005499.1(OR6C70):c.98G>C (p.Cys33Ser)	OR6C70 (C33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568941	NM_001005499.1(OR6C70):c.47C>T (p.Thr16Met)	OR6C70 (T16M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330464	NM_001005499.1(OR6C70):c.38T>G (p.Leu13Arg)	OR6C70 (L13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409217	NM_001005499.1(OR6C70):c.23T>C (p.Ile8Thr)	OR6C70 (I8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206490	NM_001005499.1(OR6C70):c.20A>G (p.Gln7Arg)	OR6C70 (Q7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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: 31