"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 1195979	NM_005032.7(PLS3):c.617C>T (p.Ala206Val)	PLS3 (A161V +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GLikely pathogenic
Select item 1195980	NM_005032.7(PLS3):c.1054T>C (p.Phe352Leu)	PLS3 (F307L +3 more)	Single nucleotide variant (missense variant)	Hernia, anterior diaphragmatic	GUncertain significance
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic

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