"GeneDx"[submitter] AND "MMP13"[gene] - ClinVar

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Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 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 301961	NM_002427.4(MMP13):c.*997dup	MMP13	Duplication (3 prime UTR variant)	Spondyloepimetaphyseal dysplasia +2 more	GBenign
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 1305698	NM_002427.4(MMP13):c.1388T>C (p.Met463Thr)	MMP13 (M463T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 1897315	NM_002427.4(MMP13):c.1187T>C (p.Leu396Pro)	MMP13 (L396P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 301976	NM_002427.4(MMP13):c.1169A>G (p.Asp390Gly)	MMP13 (D390G)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia +2 more	GBenign/Likely benign
Select item 301979	NM_002427.4(MMP13):c.1080T>C (p.Tyr360=)	MMP13	Single nucleotide variant (synonymous variant)	Metaphyseal anadysplasia +3 more	GBenign/Likely benign
Select item 373391	NM_002427.4(MMP13):c.1052-2A>C	MMP13	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1195816	NM_002427.4(MMP13):c.1052-178dup	MMP13	Duplication (intron variant)	not provided	GLikely benign
Select item 1274584	NM_002427.4(MMP13):c.1052-233C>T	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270429	NM_002427.4(MMP13):c.1052-237T>C	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274090	NM_002427.4(MMP13):c.1051+299T>C	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203776	NM_002427.4(MMP13):c.1051+242T>C	MMP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255281	NM_002427.4(MMP13):c.1051+180A>G	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1425152	NM_002427.4(MMP13):c.998G>A (p.Arg333His)	MMP13 (R333H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 301983	NM_002427.4(MMP13):c.935A>G (p.His312Arg)	MMP13 (H312R)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Missouri type +3 more	GConflicting classifications of pathogenicity
Select item 1261676	NM_002427.4(MMP13):c.918-29C>T	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260429	NM_002427.4(MMP13):c.918-81G>C	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280417	NM_002427.4(MMP13):c.917+329G>A	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286949	NM_002427.4(MMP13):c.917+184G>A	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192860	NM_002427.4(MMP13):c.917+34C>T	MMP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 301984	NM_002427.4(MMP13):c.800-9C>T	MMP13	Single nucleotide variant (intron variant)	Metaphyseal anadysplasia +2 more	GBenign
Select item 1212788	NM_002427.4(MMP13):c.799+260A>T	MMP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209496	NM_002427.4(MMP13):c.799+145T>C	MMP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287548	NM_002427.4(MMP13):c.799+92A>G	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 197743	NM_002427.4(MMP13):c.772dup (p.Asp258fs)	MMP13 (D258fs)	Duplication (frameshift variant)	MMP13-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 301987	NM_002427.4(MMP13):c.770A>T (p.Asp257Val)	MMP13 (D257V)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia +2 more	GConflicting classifications of pathogenicity
Select item 1312851	NM_002427.4(MMP13):c.731A>G (p.Tyr244Cys)	MMP13 (Y244C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504132	NM_002427.4(MMP13):c.710_712del (p.Gly237del)	MMP13 (G237del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1273491	NM_002427.4(MMP13):c.637+59A>G	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 183687	NM_002427.4(MMP13):c.619T>G (p.Trp207Gly)	MMP13 (W207G)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Spahr type +2 more	GPathogenic/Likely pathogenic
Select item 1277474	NM_002427.4(MMP13):c.512-81A>C	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2501578	NM_002427.4(MMP13):c.511+23C>G	MMP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 301989	NM_002427.4(MMP13):c.509A>C (p.Lys170Thr)	MMP13 (K170T)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia +2 more	GConflicting classifications of pathogenicity
Select item 1599949	NM_002427.4(MMP13):c.363-17C>G	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1206646	NM_002427.4(MMP13):c.363-82G>A	MMP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204899	NM_002427.4(MMP13):c.363-186C>T	MMP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269830	NM_002427.4(MMP13):c.363-300A>G	MMP13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 183688	NM_002427.4(MMP13):c.325C>T (p.Arg109Ter)	LOC126861318, MMP13 (R109*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 301990	NM_002427.4(MMP13):c.301G>T (p.Val101Leu)	LOC126861318, MMP13 (V101L)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia +2 more	GUncertain significance
Select item 2504849	NM_002427.4(MMP13):c.157G>T (p.Ala53Ser)	LOC126861318, MMP13 (A53S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253169	NM_002427.4(MMP13):c.67C>T (p.Pro23Ser)	LOC126861318, MMP13 (P23S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166185	NC_000011.10:g.102955810C>T	LOC126861318, MMP13	Single nucleotide variant	not provided	GBenign
Select item 1193597	NC_000011.10:g.102955861del	LOC126861318, MMP13	Deletion	not provided	GLikely benign
Select item 1277917	NC_000011.10:g.102956023T>A	MMP13, LOC126861318	Single nucleotide variant	not provided	GBenign
Select item 1273922	NC_000011.10:g.102956035del	LOC126861318, MMP13	Deletion	not provided	GBenign

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Items: 61