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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 649051	NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)	CTSK (C318Y)	Single nucleotide variant (missense variant)	Pyknodysostosis +2 more	GPathogenic/Likely pathogenic
Select item 371426	NM_000396.4(CTSK):c.934C>T (p.Arg312Ter)	CTSK (R312*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1403119	NM_000396.4(CTSK):c.814G>A (p.Asp272Asn)	CTSK (D272N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 962917	NM_000396.4(CTSK):c.746T>C (p.Ile249Thr)	CTSK (I249T)	Single nucleotide variant (missense variant)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic
Select item 522671	NM_000396.4(CTSK):c.578G>A (p.Arg193Gln)	CTSK (R193Q)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 550003	NM_000396.4(CTSK):c.577C>T (p.Arg193Trp)	CTSK (R193W)	Single nucleotide variant (missense variant)	Pyknodysostosis +1 more	GUncertain significance
Select item 292584	NM_000396.4(CTSK):c.551A>G (p.Asn184Ser)	CTSK (N184S)	Single nucleotide variant (missense variant)	Pyknodysostosis	GUncertain significance
Select item 8421	NM_000396.4(CTSK):c.436G>C (p.Gly146Arg)	CTSK (G146R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic

ClinVar