"GeneDx"[submitter] AND "MMP10"[gene] - ClinVar - NCBI

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Items: 5

	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 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 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 1317643	NM_002425.3(MMP10):c.1200C>A (p.Tyr400Ter)	MMP10 (Y400*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 1244144	NM_002425.3(MMP10):c.10C>G (p.Leu4Val)	MMP10 (L4V)	Single nucleotide variant (missense variant)	not provided	GBenign

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