Related gene-specific medical variations for Gene (Select 119694) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3303015	NM_001004753.2(OR51F2):c.313T>C (p.Phe105Leu)	MMP26, OR51F2 (F105L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303014	NM_001004753.2(OR51F2):c.875T>C (p.Ile292Thr)	MMP26, OR51F2 (I292T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303013	NM_001004753.2(OR51F2):c.199A>G (p.Met67Val)	MMP26, OR51F2 (M67V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303012	NM_001004753.2(OR51F2):c.610G>A (p.Ala204Thr)	MMP26, OR51F2 (A204T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303011	NM_001004753.2(OR51F2):c.284A>G (p.Asn95Ser)	MMP26, OR51F2 (N95S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3303010	NM_001004753.2(OR51F2):c.611C>T (p.Ala204Val)	MMP26, OR51F2 (A204V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303009	NM_001004753.2(OR51F2):c.710G>A (p.Arg237Gln)	MMP26, OR51F2 (R237Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205808	NM_001004753.2(OR51F2):c.794G>A (p.Arg265His)	MMP26, OR51F2 (R265H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205807	NM_001004753.2(OR51F2):c.688A>T (p.Ile230Phe)	MMP26, OR51F2 (I230F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205806	NM_001004753.2(OR51F2):c.493G>T (p.Val165Phe)	MMP26, OR51F2 (V165F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205805	NM_001004753.2(OR51F2):c.-33A>G	MMP26, OR51F2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3205804	NM_001004753.2(OR51F2):c.462T>G (p.Asn154Lys)	MMP26, OR51F2 (N154K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205803	NM_001004753.2(OR51F2):c.395T>G (p.Leu132Arg)	MMP26, OR51F2 (L132R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205802	NM_001004753.2(OR51F2):c.334A>G (p.Met112Val)	MMP26, OR51F2 (M112V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205801	NM_001004753.2(OR51F2):c.323G>T (p.Gly108Val)	MMP26, OR51F2 (G108V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205800	NM_001004753.2(OR51F2):c.183G>A (p.Met61Ile)	MMP26, OR51F2 (M61I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205799	NM_001004753.2(OR51F2):c.181A>G (p.Met61Val)	MMP26, OR51F2 (M61V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205798	NM_001004753.2(OR51F2):c.110A>G (p.Tyr37Cys)	MMP26, OR51F2 (Y37C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590344	NM_001004753.2(OR51F2):c.-27A>C	OR51F2, MMP26	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2588578	NM_001004753.2(OR51F2):c.275G>A (p.Arg92Gln)	MMP26, OR51F2 (R92Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2559694	NM_001004753.2(OR51F2):c.577G>A (p.Asp193Asn)	MMP26, OR51F2 (D193N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558954	NM_001004753.2(OR51F2):c.469G>A (p.Val157Ile)	MMP26, OR51F2 (V157I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519075	NM_001004753.2(OR51F2):c.404C>T (p.Thr135Ile)	MMP26, OR51F2 (T135I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513409	NM_001004753.2(OR51F2):c.674G>T (p.Arg225Leu)	MMP26, OR51F2 (R225L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481045	NM_001004753.2(OR51F2):c.446G>A (p.Ser149Asn)	MMP26, OR51F2 (S149N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381363	NM_001004753.2(OR51F2):c.100T>C (p.Cys34Arg)	MMP26, OR51F2 (C34R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349502	NM_001004753.2(OR51F2):c.695C>T (p.Ser232Phe)	MMP26, OR51F2 (S232F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347883	NM_001004753.2(OR51F2):c.899A>G (p.Gln300Arg)	MMP26, OR51F2 (Q300R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337751	NM_001004753.2(OR51F2):c.481G>A (p.Val161Ile)	MMP26, OR51F2 (V161I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313598	NM_001004753.2(OR51F2):c.403A>G (p.Thr135Ala)	MMP26, OR51F2 (T135A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283495	NM_001004753.2(OR51F2):c.311T>C (p.Phe104Ser)	MMP26, OR51F2 (F104S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281406	NM_001004753.2(OR51F2):c.287T>C (p.Leu96Pro)	MMP26, OR51F2 (L96P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244898	NM_001004753.2(OR51F2):c.856C>A (p.Pro286Thr)	MMP26, OR51F2 (P286T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232819	NM_001004753.2(OR51F2):c.874A>G (p.Ile292Val)	MMP26, OR51F2 (I292V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223960	NM_001004753.2(OR51F2):c.659A>G (p.Tyr220Cys)	MMP26, OR51F2 (Y220C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 35