"Baylor Genetics"[submitter] AND "CTSK"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 39

	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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2681033	NM_000396.4(CTSK):c.947_948del (p.Asn316fs)	CTSK (N316fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely 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 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 684727	NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)	CTSK (W302*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1451614	NM_000396.4(CTSK):c.894G>A (p.Trp298Ter)	CTSK (W298*)	Single nucleotide variant (nonsense)	Pyknodysostosis +1 more	GPathogenic
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 1961646	NM_000396.4(CTSK):c.818del (p.Asn273fs)	CTSK (N273fs)	Deletion (frameshift variant)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic
Select item 1301984	NM_000396.4(CTSK):c.746T>A (p.Ile249Asn)	CTSK (I249N)	Single nucleotide variant (missense variant)	Pyknodysostosis +1 more	GLikely pathogenic
Select item 962917	NM_000396.4(CTSK):c.746T>C (p.Ile249Thr)	CTSK (I249T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2202839	NM_000396.4(CTSK):c.737_738del (p.Ser246fs)	CTSK (S246fs)	Microsatellite (frameshift variant)	Pyknodysostosis +1 more	GPathogenic
Select item 2681029	NM_000396.4(CTSK):c.724_731del (p.Val242fs)	CTSK (V242fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
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 3241229	NM_000396.4(CTSK):c.655del (p.Ala219fs)	CTSK (A219fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 2681031	NM_000396.4(CTSK):c.590_591del (p.Asp196_Ser197insTer)	CTSK	Microsatellite (nonsense)	Pyknodysostosis	GLikely pathogenic
Select item 2681034	NM_000396.4(CTSK):c.581del (p.Gly194fs)	CTSK (G194fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
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
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 1076504	NM_000396.4(CTSK):c.419G>A (p.Trp140Ter)	CTSK (W140*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1726673	NM_000396.4(CTSK):c.397C>T (p.Gln133Ter)	CTSK (Q133*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely pathogenic
Select item 370731	NM_000396.4(CTSK):c.395dup (p.Asn132fs)	CTSK (N132fs)	Duplication (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 1076677	NM_000396.4(CTSK):c.364C>T (p.Arg122Ter)	CTSK (R122*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3241227	NM_000396.4(CTSK):c.274G>T (p.Gly92Ter)	CTSK (G92*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely pathogenic
Select item 982106	NM_000396.4(CTSK):c.244-29A>G	CTSK	Single nucleotide variant (intron variant)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic
Select item 2681032	NM_000396.4(CTSK):c.239_243+1del	CTSK	Deletion (splice donor variant)	Pyknodysostosis	GLikely pathogenic
Select item 8424	NM_000396.4(CTSK):c.236G>A (p.Gly79Glu)	CTSK (G79E)	Single nucleotide variant (missense variant)	Pyknodysostosis	GPathogenic
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 1073787	NM_000396.4(CTSK):c.190_200del (p.Ala64fs)	CTSK (A64fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2681030	NM_000396.4(CTSK):c.169_170del (p.Ile57fs)	CTSK (I57fs)	Microsatellite (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 954275	NM_000396.4(CTSK):c.158dup (p.Asn53fs)	CTSK (N53fs)	Duplication (frameshift variant)	Pyknodysostosis +1 more	GPathogenic
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 859435	NM_000396.4(CTSK):c.121-1G>A	CTSK	Single nucleotide variant (splice acceptor variant)	Pyknodysostosis +1 more	GPathogenic
Select item 2681035	NM_000396.4(CTSK):c.119del (p.Lys40fs)	CTSK (K40fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 2681028	NM_000396.4(CTSK):c.78G>A (p.Trp26Ter)	CTSK (W26*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely pathogenic
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 3241228	NM_000396.4(CTSK):c.20T>C (p.Leu7Pro)	CTSK (L7P)	Single nucleotide variant (missense variant)	Pyknodysostosis	GLikely pathogenic
Select item 2681036	NM_000396.4(CTSK):c.9del (p.Leu4fs)	CTSK (L4fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39