"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128872	NM_001909.5(CTSD):c.1215C>A (p.Gly405=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 10 +4 more	GBenign
Select item 128870	NM_001909.5(CTSD):c.1072-7G>A	CTSD	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 137043	NM_001909.5(CTSD):c.1071+12A>G	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 128877	NM_001909.5(CTSD):c.844G>A (p.Gly282Arg)	CTSD (G282R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 137062	NM_001909.5(CTSD):c.827+13T>C	CTSD	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 137055	NM_001909.5(CTSD):c.353-12C>T	CTSD	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign

ClinVar