"Natera, Inc."[submitter] AND "CTSK"[gene] - ClinVar - NCBI

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Items: 19

	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 1166561	NM_000396.4(CTSK):c.831A>G (p.Ala277=)	CTSK	Single nucleotide variant (synonymous variant)	Pyknodysostosis +1 more	GBenign
Select item 712808	NM_000396.4(CTSK):c.816T>A (p.Asp272Glu)	CTSK (D272E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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 292582	NM_000396.4(CTSK):c.684C>T (p.Pro228=)	CTSK	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 292583	NM_000396.4(CTSK):c.675A>G (p.Arg225=)	CTSK	Single nucleotide variant (synonymous variant)	CTSK-related disorder +2 more	GBenign/Likely benign
Select item 991402	NM_000396.4(CTSK):c.606A>G (p.Pro202=)	CTSK	Single nucleotide variant (synonymous variant)	Pyknodysostosis	GUncertain significance
Select item 664665	NM_000396.4(CTSK):c.503T>C (p.Val168Ala)	CTSK (V168A)	Single nucleotide variant (missense variant)	not provided	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
Select item 719657	NM_000396.4(CTSK):c.399+9C>T	CTSK	Single nucleotide variant (intron variant)	not provided	GBenign
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 292586	NM_000396.4(CTSK):c.244-10_244-8del	CTSK	Deletion (intron variant)	Pyknodysostosis +1 more	GConflicting classifications of pathogenicity
Select item 292587	NM_000396.4(CTSK):c.169A>G (p.Ile57Val)	CTSK (I57V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 754103	NM_000396.4(CTSK):c.117C>T (p.Asn39=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1085150	NM_000396.4(CTSK):c.30T>G (p.Pro10=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 875490	NM_000396.4(CTSK):c.22C>T (p.Leu8=)	CTSK	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1050778	NM_000396.4(CTSK):c.8G>A (p.Gly3Glu)	CTSK (G3E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 283076	NM_000396.4(CTSK):c.-1-9C>T	CTSK	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance