"GeneDx"[submitter] AND "CTSK"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 286620	NM_000396.4(CTSK):c.541T>C (p.Tyr181His)	CTSK (Y181H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1403033	NM_000396.4(CTSK):c.505G>A (p.Asp169Asn)	CTSK (D169N)	Single nucleotide variant (missense variant)	Pyknodysostosis +1 more	GConflicting classifications of pathogenicity
Select item 982143	NM_000396.4(CTSK):c.375A>G (p.Gly125=)	CTSK	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1303089	NM_000396.4(CTSK):c.254A>G (p.Glu85Gly)	CTSK (E85G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1242281	NM_000396.4(CTSK):c.-1-119C>T	CTSK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295136	NM_000396.4(CTSK):c.-1-219GA[20]	CTSK	Microsatellite (intron variant)	not provided	GBenign
Select item 1276641	NM_000396.4(CTSK):c.-1-219GA[19]	CTSK	Microsatellite (intron variant)	not provided	GBenign
Select item 1238257	NM_000396.4(CTSK):c.-1-219GA[17]	CTSK	Microsatellite (intron variant)	not provided	GBenign
Select item 1282429	NM_000396.4(CTSK):c.-1-242A>T	CTSK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288582	NM_000396.4(CTSK):c.-1-276_-1-269del	CTSK	Deletion (intron variant)	not provided	GBenign
Select item 1247510	NM_000396.4(CTSK):c.-1-276_-1-273del	CTSK	Deletion (intron variant)	not provided	GBenign
Select item 1235042	NM_000396.4(CTSK):c.-1-278_-1-273del	CTSK	Deletion (intron variant)	not provided	GBenign
Select item 1221513	NM_000396.4(CTSK):c.-1-280_-1-273del	CTSK	Deletion (intron variant)	not provided	GBenign
Select item 1235136	NM_000396.4(CTSK):c.-1-274A>T	CTSK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239402	NM_000396.4(CTSK):c.-1-318TG[16]	CTSK	Microsatellite (intron variant)	not provided	GBenign