OR6C2[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	ACAD10, ACADS +4836 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 3303298	NM_054105.2(OR6C2):c.52G>A (p.Asp18Asn)	OR6C2 (D18N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301345	NM_054105.2(OR6C2):c.62T>G (p.Leu21Arg)	OR6C2 (L21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329493	NM_054105.2(OR6C2):c.90T>A (p.Phe30Leu)	OR6C2 (F30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239232	NM_054105.2(OR6C2):c.221T>G (p.Val74Gly)	OR6C2 (V74G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206464	NM_054105.2(OR6C2):c.255G>A (p.Met85Ile)	OR6C2 (M85I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280575	NM_054105.2(OR6C2):c.357C>A (p.Asp119Glu)	OR6C2 (D119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280386	NM_054105.2(OR6C2):c.358C>T (p.Arg120Cys)	OR6C2 (R120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206466	NM_054105.2(OR6C2):c.506C>A (p.Ser169Tyr)	OR6C2 (S169Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211112	NM_054105.2(OR6C2):c.582A>C (p.Glu194Asp)	OR6C2 (E194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303296	NM_054105.2(OR6C2):c.585G>T (p.Gln195His)	OR6C2 (Q195H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303297	NM_054105.2(OR6C2):c.586A>C (p.Met196Leu)	OR6C2 (M196L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220479	NM_054105.2(OR6C2):c.599T>C (p.Met200Thr)	OR6C2 (M200T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303295	NM_054105.2(OR6C2):c.600G>A (p.Met200Ile)	OR6C2 (M200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476798	NM_054105.2(OR6C2):c.613C>T (p.Leu205Phe)	OR6C2 (L205F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301346	NM_054105.2(OR6C2):c.638T>G (p.Ile213Ser)	OR6C2 (I213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206467	NM_054105.2(OR6C2):c.655A>G (p.Ile219Val)	OR6C2 (I219V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322166	NM_054105.2(OR6C2):c.685G>A (p.Val229Ile)	OR6C2 (V229I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386605	NM_054105.2(OR6C2):c.693A>C (p.Gln231His)	OR6C2 (Q231H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597146	NM_054105.2(OR6C2):c.760A>G (p.Ile254Val)	OR6C2 (I254V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206468	NM_054105.2(OR6C2):c.800C>T (p.Ala267Val)	OR6C2 (A267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206469	NM_054105.2(OR6C2):c.811G>A (p.Gly271Arg)	OR6C2 (G271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356630	NM_054105.2(OR6C2):c.812G>A (p.Gly271Glu)	OR6C2 (G271E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312336	NM_054105.2(OR6C2):c.830C>T (p.Thr277Ile)	OR6C2 (T277I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457909	NM_054105.2(OR6C2):c.853C>T (p.Pro285Ser)	OR6C2 (P285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206470	NM_054105.2(OR6C2):c.875A>C (p.Asn292Thr)	OR6C2 (N292T)	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