ClinVar for MedGen (Select 355563) - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1723870	NM_002427.4(MMP13):c.230T>C (p.Leu77Ser)	MMP13, LOC126861318 (L77S)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Missouri type	GLikely pathogenic
Select item 1687544	NM_002427.4(MMP13):c.236T>A (p.Val79Glu)	LOC126861318, MMP13 (V79E)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Missouri type	GUncertain significance
Select item 1679263	NM_002427.4(MMP13):c.706C>T (p.Pro236Ser)	MMP13 (P236S)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Missouri type	GUncertain significance
Select item 1492249	NM_002427.4(MMP13):c.652C>G (p.Leu218Val)	MMP13 (L218V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 998000	NM_002427.4(MMP13):c.223T>C (p.Phe75Leu)	LOC126861318, MMP13 (F75L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Missouri type	GLikely pathogenic
Select item 976145	NM_002427.4(MMP13):c.492G>C (p.Met164Ile)	MMP13 (M164I)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Missouri type	GUncertain significance
Select item 880507	NM_002427.4(MMP13):c.741C>T (p.Thr247=)	MMP13	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, Missouri type +2 more	GBenign/Likely benign
Select item 880506	NM_002427.4(MMP13):c.756T>C (p.Phe252=)	MMP13	Single nucleotide variant (synonymous variant)	Metaphyseal anadysplasia +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 880459	NM_002427.4(MMP13):c.1316-15T>C	MMP13	Single nucleotide variant (intron variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
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 880416	NM_002427.4(MMP13):c.*954G>C	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 879360	NM_002427.4(MMP13):c.23C>T (p.Ala8Val)	LOC126861318, MMP13 (A8V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 879318	NM_002427.4(MMP13):c.818C>G (p.Pro273Arg)	MMP13 (P273R)	Single nucleotide variant (missense variant)	not provided +2 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 879277	NM_002427.4(MMP13):c.*54T>C	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
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 879219	NM_002427.4(MMP13):c.*1052T>C	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
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 877737	NM_002427.4(MMP13):c.472G>A (p.Asp158Asn)	MMP13 (D158N)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia +2 more	GBenign/Likely benign
Select item 877736	NM_002427.4(MMP13):c.710G>A (p.Gly237Glu)	MMP13 (G237E)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Missouri type +2 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 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 560880	NM_002427.4(MMP13):c.212T>C (p.Met71Thr)	MMP13, LOC126861318 (M71T)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Missouri type +1 more	GPathogenic
Select item 301992	NM_002427.4(MMP13):c.52C>T (p.Arg18Trp)	LOC126861318, MMP13 (R18W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 301991	NM_002427.4(MMP13):c.138C>T (p.Tyr46=)	MMP13, LOC126861318	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, Missouri type +2 more	GConflicting classifications of pathogenicity
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 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 301988	NM_002427.4(MMP13):c.686G>T (p.Gly229Val)	MMP13 (G229V)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
Select item 301987	NM_002427.4(MMP13):c.770A>T (p.Asp257Val)	MMP13 (D257V)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Missouri type +2 more	GConflicting classifications of pathogenicity
Select item 301986	NM_002427.4(MMP13):c.799+7C>T	MMP13	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 301985	NM_002427.4(MMP13):c.799+8G>A	MMP13	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, Missouri type +2 more	GBenign
Select item 301984	NM_002427.4(MMP13):c.800-9C>T	MMP13	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, Missouri type +2 more	GBenign
Select item 301983	NM_002427.4(MMP13):c.935A>G (p.His312Arg)	MMP13 (H312R)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia +3 more	GConflicting classifications of pathogenicity
Select item 301982	NM_002427.4(MMP13):c.951T>G (p.Asp317Glu)	MMP13 (D317E)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia +3 more	GConflicting classifications of pathogenicity
Select item 301981	NM_002427.4(MMP13):c.968C>T (p.Thr323Met)	MMP13 (T323M)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Missouri type +2 more	GConflicting classifications of pathogenicity
Select item 301980	NM_002427.4(MMP13):c.997C>T (p.Arg333Cys)	MMP13 (R333C)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
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 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 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 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 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 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 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 301972	NM_002427.4(MMP13):c.*264C>T	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
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 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 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 301967	NM_002427.4(MMP13):c.*436G>C	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 301965	NM_002427.4(MMP13):c.*756A>G	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +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 301962	NM_002427.4(MMP13):c.*885A>G	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GBenign
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 301959	NM_002427.4(MMP13):c.*1102T>C	MMP13	Single nucleotide variant (3 prime UTR variant)	Metaphyseal anadysplasia +1 more	GUncertain significance
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 196346	NM_002427.4(MMP13):c.438C>T (p.Ser146=)	MMP13	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 9445	NM_002427.4(MMP13):c.272T>C (p.Met91Thr)	LOC126861318, MMP13 (M91T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 9443	NM_002427.4(MMP13):c.224T>C (p.Phe75Ser)	LOC126861318, MMP13 (F75S)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 59