Related gene-specific medical variations for Gene (Select 138882) - ClinVar

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

Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302606	NM_001004457.2(OR1N2):c.568C>T (p.Leu190Phe)	OR1J2, OR1L8 +1 more (L190F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302605	NM_001004457.2(OR1N2):c.767G>T (p.Gly256Val)	OR1J2, OR1L8 +1 more (G256V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302603	NM_001004457.2(OR1N2):c.422C>T (p.Pro141Leu)	OR1J2, OR1L8 +1 more (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204963	NM_001004457.2(OR1N2):c.846G>A (p.Met282Ile)	OR1J2, OR1L8 +1 more (M282I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603117	NM_001004457.2(OR1N2):c.287C>T (p.Ser96Leu)	OR1J2, OR1L8 +1 more (S96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595898	NM_001004457.2(OR1N2):c.516T>G (p.Cys172Trp)	OR1J2, OR1L8 +1 more (C172W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590759	NM_001004457.2(OR1N2):c.503G>A (p.Arg168His)	OR1J2, OR1L8 +1 more (R168H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559818	NM_001004457.2(OR1N2):c.76G>A (p.Glu26Lys)	OR1J2, OR1L8 +1 more (E26K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541154	NM_001004457.2(OR1N2):c.542A>C (p.Tyr181Ser)	OR1J2, OR1L8 +1 more (Y181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482708	NM_001004457.2(OR1N2):c.541T>C (p.Tyr181His)	OR1J2, OR1L8 +1 more (Y181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481317	NM_001004457.2(OR1N2):c.725C>A (p.Ser242Tyr)	OR1J2, OR1L8 +1 more (S242Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401339	NM_001004457.2(OR1N2):c.505G>A (p.Val169Met)	OR1J2, OR1L8 +1 more (V169M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388756	NM_001004457.2(OR1N2):c.569T>C (p.Leu190Pro)	OR1J2, OR1L8 +1 more (L190P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383364	NM_001004457.2(OR1N2):c.566A>G (p.Lys189Arg)	OR1J2, OR1L8 +1 more (K189R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314681	NM_001004457.2(OR1N2):c.536A>G (p.His179Arg)	OR1J2, OR1L8 +1 more (H179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297015	NM_001004457.2(OR1N2):c.368A>G (p.Tyr123Cys)	OR1J2, OR1L8 +1 more (Y123C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274270	NM_001004457.2(OR1N2):c.250A>T (p.Met84Leu)	OR1J2, OR1L8 +1 more (M84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250016	NM_001004457.2(OR1N2):c.169C>T (p.His57Tyr)	OR1J2, OR1L8 +1 more (H57Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212165	NM_001004457.2(OR1N2):c.862C>G (p.Leu288Val)	OR1J2, OR1L8 +1 more (L288V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709559	NM_001004457.2(OR1N2):c.373C>T (p.Arg125Cys)	OR1J2, OR1L8 +1 more (R125C)	Single nucleotide variant (missense variant)	not provided	GBenign

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: 20