MMP26[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 2373758	NM_001004752.2(OR51F1):c.926G>A (p.Arg309His)	MMP26, OR51F1 (R309H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3205797	NM_001004752.2(OR51F1):c.905G>A (p.Ser302Asn)	MMP26, OR51F1 (S302N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412414	NM_001004752.2(OR51F1):c.880C>G (p.Pro294Ala)	MMP26, OR51F1 (P294A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205796	NM_001004752.2(OR51F1):c.839T>G (p.Val280Gly)	MMP26, OR51F1 (V280G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508859	NM_001004752.2(OR51F1):c.823C>T (p.Arg275Trp)	MMP26, OR51F1 (R275W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601304	NM_001004752.2(OR51F1):c.815G>A (p.Arg272His)	MMP26, OR51F1 (R272H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3303008	NM_001004752.2(OR51F1):c.667A>G (p.Ile223Val)	MMP26, OR51F1 (I223V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324084	NM_001004752.2(OR51F1):c.614G>A (p.Ser205Asn)	MMP26, OR51F1 (S205N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487304	NM_001004752.2(OR51F1):c.608C>A (p.Ala203Glu)	MMP26, OR51F1 (A203E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337136	NM_001004752.2(OR51F1):c.547C>T (p.Leu183Phe)	MMP26, OR51F1 (L183F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205795	NM_001004752.2(OR51F1):c.497T>G (p.Leu166Trp)	MMP26, OR51F1 (L166W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461318	NM_001004752.2(OR51F1):c.479G>T (p.Arg160Leu)	MMP26, OR51F1 (R160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406561	NM_001004752.2(OR51F1):c.478C>T (p.Arg160Cys)	MMP26, OR51F1 (R160C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205794	NM_001004752.2(OR51F1):c.379A>C (p.Thr127Pro)	MMP26, OR51F1 (T127P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353092	NM_001004752.2(OR51F1):c.314G>A (p.Ser105Asn)	MMP26, OR51F1 (S105N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 403275	NM_001004752.2(OR51F1):c.295del (p.Arg99fs)	MMP26, OR51F1 (R99fs)	Deletion (frameshift variant)	not specified	GBenign
Select item 2611956	NM_001004752.2(OR51F1):c.274G>A (p.Gly92Ser)	MMP26, OR51F1 (G92S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303005	NM_001004752.2(OR51F1):c.254C>G (p.Ser85Cys)	MMP26, OR51F1 (S85C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303007	NM_001004752.2(OR51F1):c.194A>G (p.His65Arg)	MMP26, OR51F1 (H65R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303006	NM_001004752.2(OR51F1):c.155G>A (p.Ser52Asn)	MMP26, OR51F1 (S52N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217734	NM_001004752.2(OR51F1):c.148G>A (p.Gly50Arg)	MMP26, OR51F1 (G50R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221441	NM_001004752.2(OR51F1):c.100G>T (p.Val34Phe)	MMP26, OR51F1 (V34F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334864	NM_001004752.2(OR51F1):c.97C>A (p.His33Asn)	MMP26, OR51F1 (H33N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616184	NM_001004752.2(OR51F1):c.73G>A (p.Gly25Ser)	MMP26, OR51F1 (G25S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548462	NM_001004752.2(OR51F1):c.50A>C (p.Lys17Thr)	MMP26, OR51F1 (K17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205793	NM_001004752.2(OR51F1):c.31C>G (p.Leu11Val)	MMP26, OR51F1 (L11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349867	NM_001005177.3(OR52R1):c.907G>A (p.Gly303Arg)	MMP26, OR52R1 (G303R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2534077	NM_001005177.3(OR52R1):c.881T>A (p.Ile294Asn)	MMP26, OR52R1 (I294N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206033	NM_001005177.3(OR52R1):c.874C>T (p.Pro292Ser)	MMP26, OR52R1 (P292S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206032	NM_001005177.3(OR52R1):c.845T>C (p.Leu282Pro)	MMP26, OR52R1 (L282P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303121	NM_001005177.3(OR52R1):c.833T>C (p.Leu278Pro)	MMP26, OR52R1 (L278P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556428	NM_001005177.3(OR52R1):c.808G>A (p.Asp270Asn)	MMP26, OR52R1 (D270N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520567	NM_001005177.3(OR52R1):c.796C>T (p.Arg266Cys)	MMP26, OR52R1 (R266C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206031	NM_001005177.3(OR52R1):c.760C>T (p.Leu254Phe)	MMP26, OR52R1 (L254F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2321570	NM_001005177.3(OR52R1):c.664G>A (p.Val222Met)	MMP26, OR52R1 (V222M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3303118	NM_001005177.3(OR52R1):c.595C>G (p.Arg199Gly)	MMP26, OR52R1 (R199G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303119	NM_001005177.3(OR52R1):c.513C>G (p.Phe171Leu)	MMP26, OR52R1 (F171L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544217	NM_001005177.3(OR52R1):c.503G>C (p.Arg168Thr)	MMP26, OR52R1 (R168T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540595	NM_001005177.3(OR52R1):c.473G>T (p.Trp158Leu)	MMP26, OR52R1 (W158L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206030	NM_001005177.3(OR52R1):c.451G>A (p.Val151Met)	MMP26, OR52R1 (V151M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206029	NM_001005177.3(OR52R1):c.368T>C (p.Leu123Pro)	MMP26, OR52R1 (L123P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303116	NM_001005177.3(OR52R1):c.364G>T (p.Ala122Ser)	MMP26, OR52R1 (A122S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206027	NM_001005177.3(OR52R1):c.245C>T (p.Pro82Leu)	MMP26, OR52R1 (P82L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556418	NM_001005177.3(OR52R1):c.226C>T (p.Leu76Phe)	MMP26, OR52R1 (L76F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2562582	NM_001005177.3(OR52R1):c.185T>C (p.Met62Thr)	MMP26, OR52R1 (M62T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311055	NM_001005177.3(OR52R1):c.167A>C (p.His56Pro)	MMP26, OR52R1 (H56P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303120	NM_001005177.3(OR52R1):c.128T>C (p.Val43Ala)	MMP26, OR52R1 (V43A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303117	NM_001005177.3(OR52R1):c.110C>T (p.Thr37Met)	MMP26, OR52R1 (T37M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2641534	NM_001005177.3(OR52R1):c.84G>A (p.Leu28=)	MMP26, OR52R1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641535	NM_001005177.3(OR52R1):c.81G>C (p.Gln27His)	MMP26, OR52R1 (Q27H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2335740	NM_001005177.3(OR52R1):c.61C>T (p.Pro21Ser)	MMP26, OR52R1 (P21S)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2223960	NM_001004753.2(OR51F2):c.659A>G (p.Tyr220Cys)	MMP26, OR51F2 (Y220C)	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 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 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 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 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 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 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 3205864	NM_001004758.1(OR51S1):c.913G>A (p.Glu305Lys)	MMP26, OR51S1 (E305K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205863	NM_001004758.1(OR51S1):c.908T>C (p.Met303Thr)	MMP26, OR51S1 (M303T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516417	NM_001004758.1(OR51S1):c.905A>G (p.Lys302Arg)	MMP26, OR51S1 (K302R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623096	NM_001004758.1(OR51S1):c.892C>A (p.Leu298Ile)	MMP26, OR51S1 (L298I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303039	NM_001004758.1(OR51S1):c.885C>A (p.Asn295Lys)	MMP26, OR51S1 (N295K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410316	NM_001004758.1(OR51S1):c.851C>T (p.Ser284Phe)	MMP26, OR51S1 (S284F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301735	NM_001004758.1(OR51S1):c.835A>G (p.Thr279Ala)	MMP26, OR51S1 (T279A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2560585	NM_001004758.1(OR51S1):c.833A>G (p.His278Arg)	MMP26, OR51S1 (H278R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303040	NM_001004758.1(OR51S1):c.775T>C (p.Tyr259His)	MMP26, OR51S1 (Y259H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3205862	NM_001004758.1(OR51S1):c.722G>A (p.Arg241His)	MMP26, OR51S1 (R241H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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