"Ambry Genetics"[submitter] AND "LOC126861318"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3152501	NM_002427.4(MMP13):c.179C>G (p.Ala60Gly)	LOC126861318, MMP13 (A60G)	Single nucleotide variant (missense variant)	not specified	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 2277383	NM_002427.4(MMP13):c.106C>T (p.Leu36Phe)	LOC126861318, MMP13 (L36F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3295278	NM_002427.4(MMP13):c.56C>T (p.Ala19Val)	LOC126861318, MMP13 (A19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar