"Ambry Genetics"[submitter] AND "MMP26"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2373758	NM_001004752.2(OR51F1):c.926G>A (p.Arg309His)	OR51F1, MMP26 (R309H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2412414	NM_001004752.2(OR51F1):c.880C>G (p.Pro294Ala)	OR51F1, MMP26 (P294A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508859	NM_001004752.2(OR51F1):c.823C>T (p.Arg275Trp)	MMP26, OR51F1 (R275W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2601304	NM_001004752.2(OR51F1):c.815G>A (p.Arg272His)	MMP26, OR51F1 (R272H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2324084	NM_001004752.2(OR51F1):c.614G>A (p.Ser205Asn)	OR51F1, MMP26 (S205N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487304	NM_001004752.2(OR51F1):c.608C>A (p.Ala203Glu)	MMP26, OR51F1 (A203E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337136	NM_001004752.2(OR51F1):c.547C>T (p.Leu183Phe)	MMP26, OR51F1 (L183F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461318	NM_001004752.2(OR51F1):c.479G>T (p.Arg160Leu)	MMP26, OR51F1 (R160L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406561	NM_001004752.2(OR51F1):c.478C>T (p.Arg160Cys)	MMP26, OR51F1 (R160C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353092	NM_001004752.2(OR51F1):c.314G>A (p.Ser105Asn)	OR51F1, MMP26 (S105N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611956	NM_001004752.2(OR51F1):c.274G>A (p.Gly92Ser)	MMP26, OR51F1 (G92S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217734	NM_001004752.2(OR51F1):c.148G>A (p.Gly50Arg)	MMP26, OR51F1 (G50R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221441	NM_001004752.2(OR51F1):c.100G>T (p.Val34Phe)	MMP26, OR51F1 (V34F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334864	NM_001004752.2(OR51F1):c.97C>A (p.His33Asn)	OR51F1, MMP26 (H33N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616184	NM_001004752.2(OR51F1):c.73G>A (p.Gly25Ser)	MMP26, OR51F1 (G25S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548462	NM_001004752.2(OR51F1):c.50A>C (p.Lys17Thr)	MMP26, OR51F1 (K17T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349867	NM_001005177.3(OR52R1):c.907G>A (p.Gly303Arg)	OR52R1, MMP26 (G303R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2534077	NM_001005177.3(OR52R1):c.881T>A (p.Ile294Asn)	MMP26, OR52R1 (I294N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556428	NM_001005177.3(OR52R1):c.808G>A (p.Asp270Asn)	MMP26, OR52R1 (D270N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520567	NM_001005177.3(OR52R1):c.796C>T (p.Arg266Cys)	MMP26, OR52R1 (R266C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321570	NM_001005177.3(OR52R1):c.664G>A (p.Val222Met)	MMP26, OR52R1 (V222M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2544217	NM_001005177.3(OR52R1):c.503G>C (p.Arg168Thr)	MMP26, OR52R1 (R168T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540595	NM_001005177.3(OR52R1):c.473G>T (p.Trp158Leu)	MMP26, OR52R1 (W158L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556418	NM_001005177.3(OR52R1):c.226C>T (p.Leu76Phe)	MMP26, OR52R1 (L76F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2562582	NM_001005177.3(OR52R1):c.185T>C (p.Met62Thr)	MMP26, OR52R1 (M62T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311055	NM_001005177.3(OR52R1):c.167A>C (p.His56Pro)	MMP26, OR52R1 (H56P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335740	NM_001005177.3(OR52R1):c.61C>T (p.Pro21Ser)	OR52R1, MMP26 (P21S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590344	NM_001004753.2(OR51F2):c.-27A>C	MMP26, OR51F2	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381363	NM_001004753.2(OR51F2):c.100T>C (p.Cys34Arg)	OR51F2, MMP26 (C34R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588578	NM_001004753.2(OR51F2):c.275G>A (p.Arg92Gln)	MMP26, OR51F2 (R92Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2281406	NM_001004753.2(OR51F2):c.287T>C (p.Leu96Pro)	OR51F2, MMP26 (L96P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283495	NM_001004753.2(OR51F2):c.311T>C (p.Phe104Ser)	MMP26, OR51F2 (F104S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313598	NM_001004753.2(OR51F2):c.403A>G (p.Thr135Ala)	OR51F2, MMP26 (T135A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519075	NM_001004753.2(OR51F2):c.404C>T (p.Thr135Ile)	MMP26, OR51F2 (T135I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481045	NM_001004753.2(OR51F2):c.446G>A (p.Ser149Asn)	MMP26, OR51F2 (S149N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558954	NM_001004753.2(OR51F2):c.469G>A (p.Val157Ile)	MMP26, OR51F2 (V157I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337751	NM_001004753.2(OR51F2):c.481G>A (p.Val161Ile)	OR51F2, MMP26 (V161I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559694	NM_001004753.2(OR51F2):c.577G>A (p.Asp193Asn)	MMP26, OR51F2 (D193N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223960	NM_001004753.2(OR51F2):c.659A>G (p.Tyr220Cys)	OR51F2, MMP26 (Y220C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513409	NM_001004753.2(OR51F2):c.674G>T (p.Arg225Leu)	MMP26, OR51F2 (R225L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349502	NM_001004753.2(OR51F2):c.695C>T (p.Ser232Phe)	OR51F2, MMP26 (S232F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244898	NM_001004753.2(OR51F2):c.856C>A (p.Pro286Thr)	OR51F2, MMP26 (P286T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232819	NM_001004753.2(OR51F2):c.874A>G (p.Ile292Val)	OR51F2, MMP26 (I292V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347883	NM_001004753.2(OR51F2):c.899A>G (p.Gln300Arg)	OR51F2, MMP26 (Q300R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2516417	NM_001004758.1(OR51S1):c.905A>G (p.Lys302Arg)	MMP26, OR51S1 (K302R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623096	NM_001004758.1(OR51S1):c.892C>A (p.Leu298Ile)	MMP26, OR51S1 (L298I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410316	NM_001004758.1(OR51S1):c.851C>T (p.Ser284Phe)	OR51S1, MMP26 (S284F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301735	NM_001004758.1(OR51S1):c.835A>G (p.Thr279Ala)	OR51S1, MMP26 (T279A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2560585	NM_001004758.1(OR51S1):c.833A>G (p.His278Arg)	MMP26, OR51S1 (H278R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204798	NM_001004758.1(OR51S1):c.698A>C (p.Gln233Pro)	OR51S1, MMP26 (Q233P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538064	NM_001004758.1(OR51S1):c.638C>T (p.Ala213Val)	MMP26, OR51S1 (A213V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2472260	NM_001004758.1(OR51S1):c.626T>C (p.Val209Ala)	MMP26, OR51S1 (V209A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465927	NM_001004758.1(OR51S1):c.595G>A (p.Glu199Lys)	OR51S1, MMP26 (E199K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510523	NM_001004758.1(OR51S1):c.578C>T (p.Ala193Val)	MMP26, OR51S1 (A193V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559929	NM_001004758.1(OR51S1):c.532C>T (p.Leu178Phe)	MMP26, OR51S1 (L178F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474229	NM_001004758.1(OR51S1):c.522G>A (p.Met174Ile)	MMP26, OR51S1 (M174I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550942	NM_001004758.1(OR51S1):c.502C>G (p.Pro168Ala)	OR51S1, MMP26 (P168A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525787	NM_001004758.1(OR51S1):c.459C>A (p.Ser153Arg)	MMP26, OR51S1 (S153R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393149	NM_001004758.1(OR51S1):c.383T>C (p.Ile128Thr)	OR51S1, MMP26 (I128T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600914	NM_001004758.1(OR51S1):c.290C>A (p.Ala97Asp)	MMP26, OR51S1 (A97D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536116	NM_001004758.1(OR51S1):c.208T>C (p.Phe70Leu)	MMP26, OR51S1 (F70L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525414	NM_001004758.1(OR51S1):c.124G>A (p.Val42Ile)	MMP26, OR51S1 (V42I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2405244	NM_001004758.1(OR51S1):c.26C>T (p.Ala9Val)	MMP26, OR51S1 (A9V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387094	NM_021801.5(MMP26):c.-144-106171A>G	MMP26, OR51T1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2531453	NM_001004759.3(OR51T1):c.23C>G (p.Thr8Ser)	MMP26, OR51T1 (T8S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291898	NM_001004759.3(OR51T1):c.34T>C (p.Ser12Pro)	MMP26, OR51T1 (S12P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621378	NM_001004759.3(OR51T1):c.80T>C (p.Val27Ala)	MMP26, OR51T1 (V27A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2517649	NM_001004759.3(OR51T1):c.97G>A (p.Val33Ile)	MMP26, OR51T1 (V33I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465755	NM_001004759.3(OR51T1):c.164G>A (p.Arg55Gln)	MMP26, OR51T1 (R55Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217008	NM_001004759.3(OR51T1):c.169C>T (p.Leu57Phe)	MMP26, OR51T1 (L57F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559316	NM_001004759.3(OR51T1):c.181A>G (p.Met61Val)	MMP26, OR51T1 (M61V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600206	NM_001004759.3(OR51T1):c.232A>G (p.Thr78Ala)	MMP26, OR51T1 (T78A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619255	NM_001004759.3(OR51T1):c.338A>G (p.Glu113Gly)	MMP26, OR51T1 (E113G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615697	NM_001004759.3(OR51T1):c.338A>C (p.Glu113Ala)	MMP26, OR51T1 (E113A)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278427	NM_001004759.3(OR51T1):c.436A>G (p.Ile146Val)	OR51T1, MMP26 (I146V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541867	NM_001004759.3(OR51T1):c.674G>A (p.Arg225His)	MMP26, OR51T1 (R225H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282261	NM_001004759.3(OR51T1):c.884G>T (p.Ser295Ile)	OR51T1, MMP26 (S295I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399253	NM_001004759.3(OR51T1):c.905G>A (p.Arg302His)	MMP26, OR51T1 (R302H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457290	NM_001004759.3(OR51T1):c.955G>C (p.Val319Leu)	MMP26, OR51T1 (V319L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396196	NM_001004749.2(OR51A7):c.120G>A (p.Met40Ile)	MMP26, OR51A7 (M40I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278985	NM_001004749.2(OR51A7):c.161C>T (p.Ser54Leu)	OR51A7, MMP26 (S54L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2608046	NM_001004749.2(OR51A7):c.250G>A (p.Val84Ile)	MMP26, OR51A7 (V84I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2455747	NM_001004749.2(OR51A7):c.309C>A (p.Phe103Leu)	MMP26, OR51A7 (F103L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208676	NM_001004749.2(OR51A7):c.425C>T (p.Ala142Val)	OR51A7, MMP26 (A142V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458528	NM_001004749.2(OR51A7):c.446C>G (p.Ala149Gly)	OR51A7, MMP26 (A149G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407942	NM_001004749.2(OR51A7):c.461T>C (p.Leu154Pro)	OR51A7, MMP26 (L154P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406074	NM_001004749.2(OR51A7):c.668C>A (p.Thr223Asn)	OR51A7, MMP26 (T223N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356946	NM_001004749.2(OR51A7):c.679A>C (p.Ile227Leu)	OR51A7, MMP26 (I227L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294420	NM_001004749.2(OR51A7):c.689T>C (p.Leu230Ser)	MMP26, OR51A7 (L230S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389215	NM_001004749.2(OR51A7):c.700C>A (p.Leu234Ile)	OR51A7, MMP26 (L234I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389216	NM_001004749.2(OR51A7):c.701T>A (p.Leu234His)	OR51A7, MMP26 (L234H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379748	NM_001004749.2(OR51A7):c.752A>G (p.Tyr251Cys)	MMP26, OR51A7 (Y251C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369810	NM_001004749.2(OR51A7):c.848C>T (p.Pro283Leu)	MMP26, OR51A7 (P283L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224740	NM_001004749.2(OR51A7):c.887G>A (p.Arg296Gln)	OR51A7, MMP26 (R296Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2510231	NM_001005238.2(OR51G2):c.824A>T (p.His275Leu)	MMP26, OR51G2 (H275L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403988	NM_001005238.2(OR51G2):c.803G>A (p.Arg268His)	OR51G2, MMP26 (R268H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458946	NM_001005238.2(OR51G2):c.730A>G (p.Asn244Asp)	MMP26, OR51G2 (N244D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361323	NM_001005238.2(OR51G2):c.714G>C (p.Glu238Asp)	MMP26, OR51G2 (E238D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326316	NM_001005238.2(OR51G2):c.706A>G (p.Arg236Gly)	MMP26, OR51G2 (R236G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208613	NM_001005238.2(OR51G2):c.688G>A (p.Val230Met)	MMP26, OR51G2 (V230M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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