Related gene-specific medical variations for Gene (Select 148823) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 3099180	NM_145278.5(GCSAML):c.400C>G (p.Pro134Ala)	GCSAML, LOC102724446 (P134A +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 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 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 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 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 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 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 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 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 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 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 2215971	NM_145278.5(GCSAML):c.338T>C (p.Leu113Pro)	GCSAML, LOC102724446 (L113P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 23