LOC128772204[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 2613626	NM_004079.5(CTSS):c.359A>C (p.Asp120Ala)	CTSS, LOC128772204 (D120A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613528	NM_004079.5(CTSS):c.338G>A (p.Arg113Gln)	CTSS, LOC128772204 (R113Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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