"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LOC1300659 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 459632	NM_000308.4(CTSA):c.54G>C (p.Leu18=)	CTSA, LOC130065974	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 916463	NM_000308.4(CTSA):c.73C>T (p.Arg25Ter)	CTSA, LOC130065974 (R25*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic