ClinVar for MedGen (Select 140928) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 548485	NM_002427.4(MMP13):c.1415_1416del (p.Ter472CysextTer?)	MMP13	Deletion (frameshift variant +1 more)	Metaphyseal chondrodysplasia, Spahr type	GUncertain significance
Select item 301986	NM_002427.4(MMP13):c.799+7C>T	MMP13	Single nucleotide variant (intron variant)	Metaphyseal anadysplasia +3 more	GBenign/Likely benign
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 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 183688	NM_002427.4(MMP13):c.325C>T (p.Arg109Ter)	LOC126861318, MMP13 (R109*)	Single nucleotide variant (nonsense)	Metaphyseal chondrodysplasia, Spahr type +1 more	GPathogenic/Likely pathogenic
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 9446	NM_002427.4(MMP13):c.694C>A (p.His232Asn)	MMP13 (H232N)	Single nucleotide variant (missense variant)	Metaphyseal chondrodysplasia, Spahr type	GPathogenic