Related gene-specific medical variations for Gene (Select 283694) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302949	NM_001005241.4(OR4N4):c.281A>G (p.Tyr94Cys)	OR4N4, LOC126088093 +1 more (Y94C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302948	NM_001005241.4(OR4N4):c.583G>A (p.Val195Met)	LOC126088093, OR4M2-OT1 +1 more (V195M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302947	NM_001005241.4(OR4N4):c.383G>A (p.Arg128Gln)	LOC126088093, OR4M2-OT1 +1 more (R128Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3205666	NM_001005241.4(OR4N4):c.8T>C (p.Ile3Thr)	LOC126088093, OR4M2-OT1 +1 more (I3T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205665	NM_001005241.4(OR4N4):c.826A>G (p.Thr276Ala)	LOC126088093, OR4M2-OT1 +1 more (T276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205664	NM_001005241.4(OR4N4):c.802G>A (p.Asp268Asn)	LOC126088093, OR4M2-OT1 +1 more (D268N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205663	NM_001005241.4(OR4N4):c.566G>T (p.Cys189Phe)	LOC126088093, OR4M2-OT1 +1 more (C189F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205662	NM_001005241.4(OR4N4):c.525C>A (p.Asp175Glu)	LOC126088093, OR4M2-OT1 +1 more (D175E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205661	NM_001005241.4(OR4N4):c.223T>C (p.Phe75Leu)	LOC126088093, OR4M2-OT1 +1 more (F75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3205660	NM_001005241.4(OR4N4):c.199G>A (p.Ala67Thr)	LOC126088093, OR4M2-OT1 +1 more (A67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644940	NM_001005241.4(OR4N4):c.807G>A (p.Lys269=)	LOC126088093, OR4M2-OT1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644939	NM_001005241.4(OR4N4):c.12A>G (p.Ala4=)	LOC126088093, OR4M2-OT1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612902	NM_001005241.4(OR4N4):c.260C>A (p.Ser87Tyr)	LOC126088093, OR4M2-OT1 +1 more (S87Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569734	NM_001005241.4(OR4N4):c.15C>A (p.Asn5Lys)	LOC126088093, OR4M2-OT1 +1 more (N5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523699	NM_001005241.4(OR4N4):c.227T>C (p.Ile76Thr)	LOC126088093, OR4M2-OT1 +1 more (I76T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407134	NM_001005241.4(OR4N4):c.122G>A (p.Gly41Glu)	LOC126088093, OR4M2-OT1 +1 more (G41E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396133	NM_001005241.4(OR4N4):c.710T>C (p.Met237Thr)	LOC126088093, OR4M2-OT1 +1 more (M237T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384572	NM_001005241.4(OR4N4):c.808A>G (p.Met270Val)	LOC126088093, OR4M2-OT1 +1 more (M270V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382124	NM_001005241.4(OR4N4):c.736A>T (p.Ile246Phe)	LOC126088093, OR4M2-OT1 +1 more (I246F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363776	NM_001005241.4(OR4N4):c.218A>G (p.Tyr73Cys)	LOC126088093, OR4M2-OT1 +1 more (Y73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339170	NM_001005241.4(OR4N4):c.61C>A (p.Gln21Lys)	LOC126088093, OR4M2-OT1 +1 more (Q21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305319	NM_001005241.4(OR4N4):c.881T>C (p.Val294Ala)	OR4M2-OT1, OR4N4 (V294A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259735	NM_001005241.4(OR4N4):c.53C>A (p.Thr18Asn)	LOC126088093, OR4M2-OT1 +1 more (T18N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223682	NM_001005241.4(OR4N4):c.707C>A (p.Ala236Asp)	LOC126088093, OR4M2-OT1 +1 more (A236D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769406	NM_001005241.4(OR4N4):c.256C>T (p.Leu86Phe)	LOC126088093, OR4M2-OT1 +1 more (L86F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769405	NM_001005241.4(OR4N4):c.232G>C (p.Ala78Pro)	LOC126088093, OR4M2-OT1 +1 more (A78P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769404	NM_001005241.4(OR4N4):c.183A>C (p.Leu61Phe)	LOC126088093, OR4M2-OT1 +1 more (L61F)	Single nucleotide variant (missense variant)	not provided	GBenign

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Links from Gene

Items: 27