"Ambry Genetics"[submitter] AND "GCSAML"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2531452	NM_198074.6(OR2C3):c.913A>G (p.Met305Val)	GCSAML, OR2C3 (M305V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217177	NM_198074.6(OR2C3):c.908G>A (p.Arg303Gln)	GCSAML, OR2C3 (R303Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205093	NM_198074.6(OR2C3):c.907C>T (p.Arg303Trp)	GCSAML, OR2C3 (R303W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205091	NM_198074.6(OR2C3):c.854C>T (p.Ala285Val)	GCSAML, OR2C3 (A285V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314836	NM_198074.6(OR2C3):c.851C>A (p.Pro284His)	GCSAML, OR2C3 (P284H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205089	NM_198074.6(OR2C3):c.740C>T (p.Ala247Val)	GCSAML, OR2C3 (A247V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512646	NM_198074.6(OR2C3):c.608C>G (p.Ala203Gly)	GCSAML, OR2C3 (A203G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205088	NM_198074.6(OR2C3):c.580A>G (p.Ser194Gly)	GCSAML, OR2C3 (S194G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495461	NM_198074.6(OR2C3):c.485C>G (p.Thr162Arg)	GCSAML, OR2C3 (T162R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256388	NM_198074.6(OR2C3):c.460C>G (p.Leu154Val)	GCSAML, OR2C3 (L154V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205086	NM_198074.6(OR2C3):c.368G>A (p.Arg123His)	GCSAML, OR2C3 (R123H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302675	NM_198074.6(OR2C3):c.227C>A (p.Thr76Lys)	GCSAML, OR2C3 (T76K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536482	NM_198074.6(OR2C3):c.170A>G (p.His57Arg)	GCSAML, OR2C3 (H57R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225120	NM_198074.6(OR2C3):c.89T>A (p.Ile30Lys)	GCSAML, OR2C3 (I30K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205092	NM_198074.6(OR2C3):c.88A>G (p.Ile30Val)	GCSAML, OR2C3 (I30V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302676	NM_198074.6(OR2C3):c.46C>G (p.Leu16Val)	GCSAML, OR2C3 (L16V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205085	NM_198074.6(OR2C3):c.19G>A (p.Val7Met)	GCSAML, OR2C3 (V7M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205090	NM_198074.6(OR2C3):c.7G>A (p.Glu3Lys)	GCSAML, OR2C3 (E3K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345324	NM_145278.5(GCSAML):c.71C>T (p.Pro24Leu)	GCSAML (P24L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2241471	NM_145278.5(GCSAML):c.79G>A (p.Glu27Lys)	GCSAML (E27K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2515765	NM_145278.5(GCSAML):c.134A>G (p.Lys45Arg)	GCSAML (K25R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099178	NM_145278.5(GCSAML):c.195A>C (p.Glu65Asp)	GCSAML, LOC102724446 (E33D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099179	NM_145278.5(GCSAML):c.263G>A (p.Gly88Asp)	GCSAML, LOC102724446 (G56D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215971	NM_145278.5(GCSAML):c.338T>C (p.Leu113Pro)	GCSAML, LOC102724446 (L113P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455241	NM_145278.5(GCSAML):c.377A>G (p.Glu126Gly)	GCSAML, LOC102724446 (E94G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099180	NM_145278.5(GCSAML):c.400C>G (p.Pro134Ala)	GCSAML, LOC102724446 (P134A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 26