C0238402[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 30

	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 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 551507	NM_000396.4(CTSK):c.876G>A (p.Trp292Ter)	CTSK (W292*)	Single nucleotide variant (nonsense)	Pyknodysostosis +1 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 556938	NM_000396.4(CTSK):c.826del (p.His276fs)	CTSK (H276fs)	Deletion (frameshift variant)	Pyknodysostosis +1 more	GLikely pathogenic
Select item 1403119	NM_000396.4(CTSK):c.814G>A (p.Asp272Asn)	CTSK (D272N)	Single nucleotide variant (missense variant)	Pyknodysostosis +1 more	GUncertain significance
Select item 292581	NM_000396.4(CTSK):c.812G>A (p.Ser271Asn)	CTSK (S271N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 292583	NM_000396.4(CTSK):c.675A>G (p.Arg225=)	CTSK	Single nucleotide variant (synonymous variant)	Pyknodysostosis +1 more	GBenign/Likely benign
Select item 1724741	NM_000396.4(CTSK):c.658A>T (p.Lys220Ter)	CTSK (K220*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2194206	NM_000396.4(CTSK):c.633G>A (p.Met211Ile)	CTSK (M211I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 522671	NM_000396.4(CTSK):c.578G>A (p.Arg193Gln)	CTSK (R193Q)	Single nucleotide variant (missense variant)	Pyknodysostosis +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 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 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
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 982143	NM_000396.4(CTSK):c.375A>G (p.Gly125=)	CTSK	Single nucleotide variant (synonymous variant)	not provided +1 more	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 982106	NM_000396.4(CTSK):c.244-29A>G	CTSK	Single nucleotide variant (intron variant)	Pyknodysostosis +1 more	GPathogenic/Likely 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 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 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 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 283076	NM_000396.4(CTSK):c.-1-9C>T	CTSK	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance

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Items: 30