"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 816829	NM_019112.4(ABCA7):c.3076C>T (p.Arg1026Cys)	ABCA7 (R1026C)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance
Select item 816830	NM_019112.4(ABCA7):c.4045C>T (p.Arg1349Trp)	ABCA7 (R1349W)	Single nucleotide variant (missense variant)	Flexion contracture	GLikely benign
Select item 816796	NM_019112.4(ABCA7):c.5092C>T (p.Arg1698Trp)	ABCA7 (R1698W)	Single nucleotide variant (missense variant)	Flexion contracture	GUncertain significance

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