MMP13[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 147688	GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3	ANGPTL5, BIRC2 +73 more	Copy number gain	See cases	GPathogenic
Select item 1278469	NC_000011.10:g.102942895A>C	MMP13	Single nucleotide variant	not provided	GBenign
Select item 301958	NM_002427.4(MMP13):c.*1219A>C	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GConflicting classifications of pathogenicity
Select item 879218	NM_002427.4(MMP13):c.*1171C>A	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 301959	NM_002427.4(MMP13):c.*1102T>C	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 879219	NM_002427.4(MMP13):c.*1052T>C	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 301960	NM_002427.4(MMP13):c.*1007T>C	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 301961	NM_002427.4(MMP13):c.*997dup	MMP13	Duplication (3 prime UTR variant)	Spondyloepimetaphyseal dysplasia +2 more	GBenign
Select item 880416	NM_002427.4(MMP13):c.*954G>C	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 301962	NM_002427.4(MMP13):c.*885A>G	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GBenign
Select item 880417	NM_002427.4(MMP13):c.*852C>T	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 301963	NM_002427.4(MMP13):c.*849dup	MMP13	Duplication (3 prime UTR variant)	Spondyloepimetaphyseal dysplasia +1 more	GUncertain significance
Select item 301964	NM_002427.4(MMP13):c.*771T>G	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 301965	NM_002427.4(MMP13):c.*756A>G	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 877656	NM_002427.4(MMP13):c.*723A>T	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 301966	NM_002427.4(MMP13):c.*628A>G	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GBenign/Likely benign
Select item 301967	NM_002427.4(MMP13):c.*436G>C	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 301968	NM_002427.4(MMP13):c.*426A>G	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GBenign/Likely benign
Select item 301969	NM_002427.4(MMP13):c.374_376dup	MMP13	Duplication (3 prime UTR variant)	Spondyloepimetaphyseal dysplasia +1 more	GUncertain significance
Select item 301970	NM_002427.4(MMP13):c.*314T>C	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +2 more	GBenign/Likely benign
Select item 301971	NM_002427.4(MMP13):c.*275T>C	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 301972	NM_002427.4(MMP13):c.*264C>T	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 301973	NM_002427.4(MMP13):c.*160G>A	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GConflicting classifications of pathogenicity
Select item 879276	NM_002427.4(MMP13):c.*156A>G	MMP13	Single nucleotide variant (3 prime UTR variant)	Spondyloepimetaphyseal dysplasia, Missouri type +1 more	GConflicting classifications of pathogenicity
Select item 879277	NM_002427.4(MMP13):c.*54T>C	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 879278	NM_002427.4(MMP13):c.*13A>T	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GConflicting classifications of pathogenicity
Select item 548485	NM_002427.4(MMP13):c.1415_1416del (p.Ter472CysextTer?)	MMP13	Deletion (frameshift variant +1 more)	Metaphyseal chondrodysplasia, Spahr type	GUncertain significance
Select item 1305698	NM_002427.4(MMP13):c.1388T>C (p.Met463Thr)	MMP13 (M463T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1445998	NM_002427.4(MMP13):c.1384G>A (p.Val462Ile)	MMP13 (V462I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1455864	NM_002427.4(MMP13):c.1383C>T (p.Arg461=)	MMP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1433282	NM_002427.4(MMP13):c.1382G>A (p.Arg461His)	MMP13 (R461H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192901	NM_002427.4(MMP13):c.1381C>G (p.Arg461Gly)	MMP13 (R461G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3152456	NM_002427.4(MMP13):c.1373G>A (p.Arg458His)	MMP13 (R458H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537745	NM_002427.4(MMP13):c.1372C>A (p.Arg458Ser)	MMP13 (R458S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 631644	NM_002427.4(MMP13):c.1372del (p.Arg458fs)	MMP13 (R458fs)	Deletion (frameshift variant)	MMP13-related disorder	GUncertain significance
Select item 301974	NM_002427.4(MMP13):c.1372C>T (p.Arg458Cys)	MMP13 (R458C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2062273	NM_002427.4(MMP13):c.1367G>A (p.Ser456Asn)	MMP13 (S456N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925393	NM_002427.4(MMP13):c.1336G>A (p.Gly446Arg)	MMP13 (G446R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 282989	NM_002427.4(MMP13):c.1335C>T (p.Asn445=)	MMP13	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1914008	NM_002427.4(MMP13):c.1325A>G (p.Tyr442Cys)	MMP13 (Y442C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1610906	NM_002427.4(MMP13):c.1316-9_1316-8dup	MMP13	Duplication (intron variant)	not provided	GBenign
Select item 1537598	NM_002427.4(MMP13):c.1316-7C>A	MMP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1983196	NM_002427.4(MMP13):c.1316-14G>A	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 880459	NM_002427.4(MMP13):c.1316-15T>C	MMP13	Single nucleotide variant (intron variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 1535410	NM_002427.4(MMP13):c.1316-19T>A	MMP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707397	NM_002427.4(MMP13):c.1316-160A>G	MMP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190634	NM_002427.4(MMP13):c.1316-163A>G	MMP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2642327	NM_002427.4(MMP13):c.1315+414T>A	MMP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233633	NM_002427.4(MMP13):c.1315+32G>C	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236846	NM_002427.4(MMP13):c.1315+19C>T	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 301975	NM_002427.4(MMP13):c.1315+15T>C	MMP13	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, Missouri type +2 more	GConflicting classifications of pathogenicity
Select item 880460	NM_002427.4(MMP13):c.1315+12C>T	MMP13	Single nucleotide variant (intron variant)	Metaphyseal anadysplasia +1 more	GConflicting classifications of pathogenicity
Select item 2777795	NM_002427.4(MMP13):c.1301T>C (p.Val434Ala)	MMP13 (V434A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977608	NM_002427.4(MMP13):c.1292T>C (p.Val431Ala)	MMP13 (V431A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969063	NM_002427.4(MMP13):c.1273C>G (p.Pro425Ala)	MMP13 (P425A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914546	NM_002427.4(MMP13):c.1272C>T (p.Phe424=)	MMP13	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 289006	NM_002427.4(MMP13):c.1251G>A (p.Pro417=)	MMP13	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2957107	NM_002427.4(MMP13):c.1250C>T (p.Pro417Leu)	MMP13 (P417L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910319	NM_002427.4(MMP13):c.1249C>T (p.Pro417Ser)	MMP13 (P417S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2910284	NM_002427.4(MMP13):c.1237G>T (p.Asp413Tyr)	MMP13 (D413Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012756	NM_002427.4(MMP13):c.1220A>T (p.Asp407Val)	MMP13 (D407V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016452	NM_002427.4(MMP13):c.1218T>A (p.Asp406Glu)	MMP13 (D406E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395068	NM_002427.4(MMP13):c.1214A>G (p.Tyr405Cys)	MMP13 (Y405C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470817	NM_002427.4(MMP13):c.1212-1G>T	MMP13	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2872862	NM_002427.4(MMP13):c.1212-12_1212-11del	MMP13	Deletion (intron variant)	not provided	GBenign
Select item 3015676	NM_002427.4(MMP13):c.1212-14T>A	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225630	NM_002427.4(MMP13):c.1212-185G>A	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234728	NM_002427.4(MMP13):c.1212-254T>C	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187974	NM_002427.4(MMP13):c.1211+299_1211+300insACTT	MMP13	Insertion (intron variant)	not provided	GLikely benign
Select item 1288673	NM_002427.4(MMP13):c.1211+186CA[23]	MMP13	Microsatellite (intron variant)	not provided	GBenign
Select item 1283664	NM_002427.4(MMP13):c.1211+186CA[20]	MMP13	Microsatellite (intron variant)	not provided	GBenign
Select item 1272240	NM_002427.4(MMP13):c.1211+186CA[22]	MMP13	Microsatellite (intron variant)	not provided	GBenign
Select item 1237337	NM_002427.4(MMP13):c.1211+186CA[21]	MMP13	Microsatellite (intron variant)	not provided	GBenign
Select item 1228897	NM_002427.4(MMP13):c.1211+186CA[17]	MMP13	Microsatellite (intron variant)	not provided	GBenign
Select item 1220034	NM_002427.4(MMP13):c.1211+186CA[13]	MMP13	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3007823	NM_002427.4(MMP13):c.1211+19C>T	MMP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130281	NM_002427.4(MMP13):c.1206C>G (p.Val402=)	MMP13	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1137578	NM_002427.4(MMP13):c.1206C>T (p.Val402=)	MMP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1568353	NM_002427.4(MMP13):c.1188G>A (p.Leu396=)	MMP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1897315	NM_002427.4(MMP13):c.1187T>C (p.Leu396Pro)	MMP13 (L396P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2035434	NM_002427.4(MMP13):c.1166_1175dup (p.Lys393fs)	MMP13 (K393fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1142959	NM_002427.4(MMP13):c.1173A>G (p.Thr391=)	MMP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 301976	NM_002427.4(MMP13):c.1169A>G (p.Asp390Gly)	MMP13 (D390G)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Missouri type +2 more	GBenign/Likely benign
Select item 1367238	NM_002427.4(MMP13):c.1163T>C (p.Phe388Ser)	MMP13 (F388S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880424	NM_002427.4(MMP13):c.1135G>C (p.Val379Leu)	MMP13 (V379L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 301977	NM_002427.4(MMP13):c.1123C>T (p.Leu375Phe)	MMP13 (L375F)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 1912588	NM_002427.4(MMP13):c.1121G>A (p.Gly374Asp)	MMP13 (G374D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523616	NM_002427.4(MMP13):c.1121G>T (p.Gly374Val)	MMP13 (G374V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517235	NM_002427.4(MMP13):c.1117C>A (p.Leu373Met)	MMP13 (L373M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 717251	NM_002427.4(MMP13):c.1101C>G (p.Pro367=)	MMP13	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 301978	NM_002427.4(MMP13):c.1082A>G (p.Asp361Gly)	MMP13 (D361G)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 2066110	NM_002427.4(MMP13):c.1080T>G (p.Tyr360Ter)	MMP13 (Y360*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 301979	NM_002427.4(MMP13):c.1080T>C (p.Tyr360=)	MMP13	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, Missouri type +3 more	GBenign/Likely benign
Select item 2053045	NM_002427.4(MMP13):c.1069C>G (p.Leu357Val)	MMP13 (L357V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1437197	NM_002427.4(MMP13):c.1067C>T (p.Ala356Val)	MMP13 (A356V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 631645	NM_002427.4(MMP13):c.1064G>A (p.Trp355Ter)	MMP13 (W355*)	Single nucleotide variant (nonsense)	MMP13-related disorder	GUncertain significance

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