"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 488053	NM_001448.3(GPC4):c.1235G>A (p.Arg412Lys)	GPC4 (R412K)	Single nucleotide variant (missense variant)	Distal shortening of limbs	GLikely pathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic