"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1707466	Single allele	BCCIP, CTBP2 +34 more	Duplication	not specified	GUncertain significance
Select item 545547	NM_147191.1(MMP21):c.643G>A (p.Glu215Lys)	MMP21 (E215K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 545548	NM_147191.1(MMP21):c.557G>T (p.Ser186Ile)	MMP21 (S186I)	Single nucleotide variant (missense variant)	Heterotaxy, visceral, 7, autosomal	GLikely pathogenic

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