"Counsyl"[submitter] AND "CTSK"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 370960	NM_000396.4(CTSK):c.934C>G (p.Arg312Gly)	CTSK (R312G)	Single nucleotide variant (missense variant)	Pyknodysostosis	GLikely pathogenic
Select item 8426	NM_000396.4(CTSK):c.926T>C (p.Leu309Pro)	CTSK (L309P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554307	NM_000396.4(CTSK):c.891-21_892dup	CTSK	Duplication (splice acceptor variant)	Pyknodysostosis	GLikely pathogenic
Select item 551507	NM_000396.4(CTSK):c.876G>A (p.Trp292Ter)	CTSK (W292*)	Single nucleotide variant (nonsense)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic
Select item 8423	NM_000396.4(CTSK):c.830C>T (p.Ala277Val)	CTSK (A277V)	Single nucleotide variant (missense variant)	Pyknodysostosis	GPathogenic/Likely pathogenic
Select item 556938	NM_000396.4(CTSK):c.826del (p.His276fs)	CTSK (H276fs)	Deletion (frameshift variant)	Pyknodysostosis +1 more	GLikely pathogenic
Select item 551299	NM_000396.4(CTSK):c.784+1G>A	CTSK	Single nucleotide variant (splice donor variant)	Pyknodysostosis +1 more	GLikely pathogenic
Select item 556867	NM_000396.4(CTSK):c.749A>G (p.Asp250Gly)	CTSK (D250G)	Single nucleotide variant (missense variant)	Pyknodysostosis	GUncertain significance
Select item 8422	NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)	CTSK (R241*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370625	NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs)	CTSK (I227fs)	Insertion (frameshift variant)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic
Select item 550217	NM_000396.4(CTSK):c.669del (p.Tyr224fs)	CTSK (Y224fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 370951	NM_000396.4(CTSK):c.648del (p.Lys217fs)	CTSK (K217fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 551416	NM_000396.4(CTSK):c.618+1G>A	CTSK	Single nucleotide variant (splice donor variant)	Pyknodysostosis	GLikely pathogenic
Select item 551101	NM_000396.4(CTSK):c.576_577delinsG (p.Asn192fs)	CTSK (N192fs)	Indel (frameshift variant)	Pyknodysostosis	GLikely pathogenic
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 371328	NM_000396.4(CTSK):c.568C>T (p.Gln190Ter)	CTSK (Q190*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370610	NM_000396.4(CTSK):c.423_450del (p.Phe142fs)	CTSK (F142fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 370473	NM_000396.4(CTSK):c.426del (p.Phe142fs)	CTSK (F142fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550892	NM_000396.4(CTSK):c.400-1G>C	CTSK	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 370882	NM_000396.4(CTSK):c.399+2del	CTSK	Deletion (splice donor variant)	Pyknodysostosis	GLikely pathogenic
Select item 370731	NM_000396.4(CTSK):c.395dup (p.Asn132fs)	CTSK (N132fs)	Duplication (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 555205	NM_000396.4(CTSK):c.365G>A (p.Arg122Gln)	CTSK (R122Q)	Single nucleotide variant (missense variant)	Pyknodysostosis	GUncertain significance
Select item 371513	NM_000396.4(CTSK):c.289_290del (p.Leu97fs)	CTSK (L97fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 553629	NM_000396.4(CTSK):c.263A>C (p.Gln88Pro)	CTSK (Q88P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 371429	NM_000396.4(CTSK):c.243+1G>A	CTSK	Single nucleotide variant (splice donor variant)	Pyknodysostosis	GLikely pathogenic
Select item 370345	NM_000396.4(CTSK):c.213T>A (p.Tyr71Ter)	CTSK (Y71*)	Single nucleotide variant (nonsense)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic
Select item 553560	NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)	CTSK (R46W)	Single nucleotide variant (missense variant)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic
Select item 370558	NM_000396.4(CTSK):c.121-2A>G	CTSK	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371447	NM_000396.4(CTSK):c.120+1G>A	CTSK	Single nucleotide variant (splice donor variant)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic
Select item 553284	NM_000396.4(CTSK):c.114CAA[1] (p.Asn39del)	CTSK (N39del)	Microsatellite (inframe_deletion)	Pyknodysostosis	GUncertain significance
Select item 370816	NM_000396.4(CTSK):c.48del (p.Tyr17fs)	CTSK (Y17fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553900	NM_000396.4(CTSK):c.21GCT[1] (p.Leu9del)	CTSK (L9del)	Microsatellite (inframe_deletion)	Pyknodysostosis	GUncertain significance
Select item 371412	NM_000396.4(CTSK):c.26T>C (p.Leu9Pro)	CTSK (L9P)	Single nucleotide variant (missense variant)	Pyknodysostosis +1 more	GLikely pathogenic
Select item 551777	NM_000396.4(CTSK):c.3G>A (p.Met1Ile)	CTSK (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371240	NM_000396.4(CTSK):c.3G>T (p.Met1Ile)	CTSK (M1I)	Single nucleotide variant (missense variant +1 more)	Pyknodysostosis	GLikely pathogenic

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Items: 36