"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CTSC"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 422938	NM_001814.6(CTSC):c.1344_1345del (p.Ala449fs)	CTSC (A449fs)	Microsatellite (frameshift variant)	Periodontitis, aggressive 1 +3 more	GUncertain significance
Select item 534588	NM_001814.6(CTSC):c.1289G>A (p.Gly430Asp)	CTSC (G430D)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +2 more	GUncertain significance
Select item 523939	NM_001814.6(CTSC):c.1141del (p.Leu381fs)	CTSC (L381fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 882454	NM_001814.6(CTSC):c.1097A>T (p.His366Leu)	CTSC (H366L)	Single nucleotide variant (missense variant)	Periodontitis, aggressive 1 +2 more	GUncertain significance
Select item 306423	NM_001814.6(CTSC):c.872G>A (p.Cys291Tyr)	CTSC (C291Y)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +2 more	GUncertain significance
Select item 402572	NM_001814.6(CTSC):c.458T>C (p.Ile153Thr)	CTSC (I153T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 839668	NM_001814.6(CTSC):c.203T>G (p.Leu68Arg)	CTSC (L68R)	Single nucleotide variant (missense variant)	Haim-Munk syndrome +3 more	GPathogenic/Likely pathogenic
Select item 306433	NM_001814.6(CTSC):c.1A>G (p.Met1Val)	CTSC, LOC130006572 (M1V)	Single nucleotide variant (missense variant +1 more)	Haim-Munk syndrome +3 more	GConflicting classifications of pathogenicity

ClinVar