C3715049[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60677	NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu)	CTSF (S480L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 60676	NM_003793.4(CTSF):c.1373G>C (p.Gly458Ala)	CTSF (G458A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 60675	NM_003793.4(CTSF):c.962A>G (p.Gln321Arg)	CTSF (Q321R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 60679	NM_003793.4(CTSF):c.954del (p.Ser319fs)	CTSF (S319fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic
Select item 60678	NM_003793.4(CTSF):c.692A>G (p.Tyr231Cys)	CTSF (Y231C)	Single nucleotide variant (missense variant)	CTSF-related condition	GUncertain significance
Select item 208844	NM_003793.4(CTSF):c.213+1G>C	CTSF	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 13	GPathogenic

ClinVar