Related gene-specific medical variations for Gene (Select 4322) - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366435	NM_002427.4(MMP13):c.14T>C (p.Val5Ala)	LOC126861318, MMP13 (V5A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295278	NM_002427.4(MMP13):c.56C>T (p.Ala19Val)	LOC126861318, MMP13 (A19V)	Single nucleotide variant (missense variant)	not specified	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 3152501	NM_002427.4(MMP13):c.179C>G (p.Ala60Gly)	LOC126861318, MMP13 (A60G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3022089	NM_002427.4(MMP13):c.257A>G (p.Asn86Ser)	LOC126861318, MMP13 (N86S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973476	NM_002427.4(MMP13):c.1A>G (p.Met1Val)	LOC126861318, MMP13 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2972423	NM_002427.4(MMP13):c.252C>T (p.Asp84=)	LOC126861318, MMP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954907	NM_002427.4(MMP13):c.183A>G (p.Ala61=)	LOC126861318, MMP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879784	NM_002427.4(MMP13):c.34T>C (p.Leu12=)	LOC126861318, MMP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772530	NM_002427.4(MMP13):c.38G>A (p.Ser13Asn)	LOC126861318, MMP13 (S13N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715356	NM_002427.4(MMP13):c.191T>C (p.Met64Thr)	LOC126861318, MMP13 (M64T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700735	NM_002427.4(MMP13):c.217T>C (p.Ser73Pro)	LOC126861318, MMP13 (S73P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693287	NM_002427.4(MMP13):c.20C>T (p.Ala7Val)	LOC126861318, MMP13 (A7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2554340	NM_002427.4(MMP13):c.109C>G (p.Gln37Glu)	LOC126861318, MMP13 (Q37E)	Single nucleotide variant (missense variant)	not specified	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 2433765	NM_002427.4(MMP13):c.151A>G (p.Asn51Asp)	LOC126861318, MMP13 (N51D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2374648	NM_002427.4(MMP13):c.206G>A (p.Arg69Gln)	LOC126861318, MMP13 (R69Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2277383	NM_002427.4(MMP13):c.106C>T (p.Leu36Phe)	LOC126861318, MMP13 (L36F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2218400	NM_002427.4(MMP13):c.343A>G (p.Lys115Glu)	LOC126861318, MMP13 (K115E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2183837	NM_002427.4(MMP13):c.13G>T (p.Val5Phe)	LOC126861318, MMP13 (V5F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130846	NM_002427.4(MMP13):c.124T>C (p.Tyr42His)	LOC126861318, MMP13 (Y42H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109736	NM_002427.4(MMP13):c.24C>G (p.Ala8=)	LOC126861318, MMP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2083227	NM_002427.4(MMP13):c.344A>C (p.Lys115Thr)	LOC126861318, MMP13 (K115T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990731	NM_002427.4(MMP13):c.288C>T (p.Cys96=)	LOC126861318, MMP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951299	NM_002427.4(MMP13):c.337T>C (p.Trp113Arg)	LOC126861318, MMP13 (W113R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930724	NM_002427.4(MMP13):c.357C>T (p.Thr119=)	LOC126861318, MMP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925518	NM_002427.4(MMP13):c.118G>A (p.Glu40Lys)	LOC126861318, MMP13 (E40K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922230	NM_002427.4(MMP13):c.174G>A (p.Glu58=)	LOC126861318, MMP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1718547	NM_002427.4(MMP13):c.232G>A (p.Glu78Lys)	LOC126861318, MMP13 (E78K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698555	NM_002427.4(MMP13):c.74del (p.Gly25fs)	LOC126861318, MMP13 (G25fs)	Deletion (frameshift variant)	Metaphyseal anadysplasia 1, autosomal dominant	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 1667119	NM_002427.4(MMP13):c.205C>A (p.Arg69=)	LOC126861318, MMP13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617195	NM_002427.4(MMP13):c.318T>C (p.Val106=)	MMP13, LOC126861318	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563235	NM_002427.4(MMP13):c.121-11G>T	LOC126861318, MMP13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1525597	NM_002427.4(MMP13):c.46C>T (p.His16Tyr)	LOC126861318, MMP13 (H16Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523936	NM_002427.4(MMP13):c.262T>G (p.Leu88Val)	LOC126861318, MMP13 (L88V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511466	NM_002427.4(MMP13):c.326G>T (p.Arg109Leu)	LOC126861318, MMP13 (R109L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507065	NM_002427.4(MMP13):c.314A>G (p.Asn105Ser)	LOC126861318, MMP13 (N105S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495945	NM_002427.4(MMP13):c.347T>A (p.Met116Lys)	LOC126861318, MMP13 (M116K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495915	NM_002427.4(MMP13):c.158C>T (p.Ala53Val)	LOC126861318, MMP13 (A53V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1491939	NM_002427.4(MMP13):c.316G>C (p.Val106Leu)	LOC126861318, MMP13 (V106L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471560	NM_002427.4(MMP13):c.120+1G>A	LOC126861318, MMP13	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1471038	NM_002427.4(MMP13):c.121C>T (p.Arg41Cys)	LOC126861318, MMP13 (R41C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1396730	NM_002427.4(MMP13):c.124T>G (p.Tyr42Asp)	LOC126861318, MMP13 (Y42D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369443	NM_002427.4(MMP13):c.328_329del (p.Thr110fs)	LOC126861318, MMP13 (T110fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1075359	NM_002427.4(MMP13):c.138C>G (p.Tyr46Ter)	LOC126861318, MMP13 (Y46*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1063053	NM_002427.4(MMP13):c.190A>C (p.Met64Leu)	LOC126861318, MMP13 (M64L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1058244	NM_002427.4(MMP13):c.174G>T (p.Glu58Asp)	LOC126861318, MMP13 (E58D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1019792	NM_002427.4(MMP13):c.244A>C (p.Lys82Gln)	LOC126861318, MMP13 (K82Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1011271	NM_002427.4(MMP13):c.251_268dup (p.Asp84_Asp89dup)	LOC126861318, MMP13	Duplication (inframe_insertion)	not provided	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 930588	NM_002427.4(MMP13):c.206G>T (p.Arg69Leu)	LOC126861318, MMP13 (R69L)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Spahr type	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 560880	NM_002427.4(MMP13):c.212T>C (p.Met71Thr)	LOC126861318, MMP13 (M71T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 374633	NM_002427.4(MMP13):c.788A>G (p.Gln263Arg)	MMP13 (Q263R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 301992	NM_002427.4(MMP13):c.52C>T (p.Arg18Trp)	LOC126861318, MMP13 (R18W)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia +2 more	GConflicting classifications of pathogenicity
Select item 301991	NM_002427.4(MMP13):c.138C>T (p.Tyr46=)	LOC126861318, MMP13	Single nucleotide variant (synonymous variant)	Metaphyseal anadysplasia +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 284374	NM_002427.4(MMP13):c.287_293del (p.Cys96fs)	LOC126861318, MMP13 (C96fs)	Deletion (frameshift variant)	not provided	GConflicting classifications of pathogenicity
Select item 193234	NM_002427.4(MMP13):c.110A>G (p.Gln37Arg)	LOC126861318, MMP13 (Q37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 9445	NM_002427.4(MMP13):c.272T>C (p.Met91Thr)	LOC126861318, MMP13 (M91T)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, Missouri type +1 more	GPathogenic
Select item 9444	NM_002427.4(MMP13):c.221T>C (p.Phe74Ser)	LOC126861318, MMP13 (F74S)	Single nucleotide variant (missense variant)	Metaphyseal anadysplasia 1, autosomal dominant	GPathogenic
Select item 9443	NM_002427.4(MMP13):c.224T>C (p.Phe75Ser)	MMP13, LOC126861318 (F75S)	Single nucleotide variant (missense variant)	not provided	GPathogenic

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Items: 66