"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1175017	NM_006371.5(CRTAP):c.21_22dup (p.Ala8fs)	CRTAP, LOC129936436 (A8fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 193339	NM_006371.5(CRTAP):c.213G>A (p.Leu71=)	CRTAP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 195265	NM_006371.5(CRTAP):c.534C>T (p.Asp178=)	CRTAP	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 284535	NM_006371.5(CRTAP):c.641T>C (p.Val214Ala)	CRTAP (V214A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 259968	NM_006371.5(CRTAP):c.1032T>G (p.Thr344=)	CRTAP	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 7 +1 more	GBenign
Select item 259969	NM_006371.5(CRTAP):c.1044G>A (p.Ser348=)	CRTAP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign

ClinVar