Related gene-specific medical variations for Gene (Select 8722) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067847	NM_003793.4(CTSF):c.95G>A (p.Trp32Ter)	CTSF (W32*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 2440612	NM_003793.4(CTSF):c.1175C>T (p.Ala392Val)	CTSF (A392V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 13	GUncertain significance
Select item 1324193	NM_003793.4(CTSF):c.530_531+11del	CTSF	Deletion (splice donor variant)	Neuronal ceroid lipofuscinosis 13	GLikely pathogenic
Select item 987065	NM_003793.4(CTSF):c.218_219insCCC (p.Gly73_Gln74insPro)	CTSF	Insertion (inframe_insertion)	not provided	GPathogenic
Select item 987064	NM_003793.4(CTSF):c.219_220insG (p.Gln74fs)	CTSF (Q74fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 259165	NM_003793.4(CTSF):c.1166-10C>T	CTSF	Single nucleotide variant (intron variant)	not specified	GLikely benign

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