CTSK[Gene Name] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 874563	NM_000396.4(CTSK):c.*467A>G	CTSK	Single nucleotide variant (3 prime UTR variant)	Pyknodysostosis	GUncertain significance
Select item 874564	NM_000396.4(CTSK):c.*461C>A	CTSK	Single nucleotide variant (3 prime UTR variant)	Pyknodysostosis	GUncertain significance
Select item 874565	NM_000396.4(CTSK):c.*342C>T	CTSK	Single nucleotide variant (3 prime UTR variant)	Pyknodysostosis	GUncertain significance
Select item 8420	NM_000396.4(CTSK):c.990A>G (p.Ter330Trp)	CTSK	Single nucleotide variant (stop lost)	Pyknodysostosis	GPathogenic
Select item 1530822	NM_000396.4(CTSK):c.981C>T (p.Pro327=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1434189	NM_000396.4(CTSK):c.976T>G (p.Phe326Val)	CTSK (F326V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2557789	NM_000396.4(CTSK):c.970G>A (p.Ala324Thr)	CTSK (A324T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2770740	NM_000396.4(CTSK):c.963C>T (p.Ala321=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088944	NM_000396.4(CTSK):c.960T>A (p.Ile320=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 592964	NM_000396.4(CTSK):c.955G>T (p.Gly319Cys)	CTSK (G319C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 649051	NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)	CTSK (C318Y)	Single nucleotide variant (missense variant)	Pyknodysostosis +2 more	GPathogenic/Likely pathogenic
Select item 2076917	NM_000396.4(CTSK):c.951C>T (p.Ala317=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1142365	NM_000396.4(CTSK):c.951C>G (p.Ala317=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681033	NM_000396.4(CTSK):c.947_948del (p.Asn316fs)	CTSK (N316fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 1116200	NM_000396.4(CTSK):c.948C>T (p.Asn316=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973767	NM_000396.4(CTSK):c.934C>A (p.Arg312=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 371426	NM_000396.4(CTSK):c.934C>T (p.Arg312Ter)	CTSK (R312*)	Single nucleotide variant (nonsense)	Pyknodysostosis +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 2202837	NM_000396.4(CTSK):c.931G>C (p.Ala311Pro)	CTSK (A311P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1142753	NM_000396.4(CTSK):c.927C>T (p.Leu309=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1475911	NM_000396.4(CTSK):c.925C>T (p.Leu309Phe)	CTSK (L309F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2771233	NM_000396.4(CTSK):c.921T>C (p.Tyr307=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1081959	NM_000396.4(CTSK):c.918A>C (p.Gly306=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815717	NM_000396.4(CTSK):c.908del (p.Gly303fs)	CTSK (G303fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2202838	NM_000396.4(CTSK):c.908G>A (p.Gly303Glu)	CTSK (G303E)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 981508	NM_000396.4(CTSK):c.907G>A (p.Gly303Arg)	CTSK (G303R)	Single nucleotide variant (missense variant)	Pyknodysostosis	GPathogenic
Select item 684727	NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)	CTSK (W302*)	Single nucleotide variant (nonsense)	Pyknodysostosis +1 more	GPathogenic
Select item 2162667	NM_000396.4(CTSK):c.901A>T (p.Asn301Tyr)	CTSK (N301Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1451614	NM_000396.4(CTSK):c.894G>A (p.Trp298Ter)	CTSK (W298*)	Single nucleotide variant (nonsense)	Pyknodysostosis +1 more	GPathogenic
Select item 554307	NM_000396.4(CTSK):c.891-21_892dup	CTSK	Duplication (splice acceptor variant)	Pyknodysostosis	GLikely pathogenic
Select item 623333	NM_000396.4(CTSK):c.891-1G>T	CTSK	Single nucleotide variant (splice acceptor variant)	Pyknodysostosis	GPathogenic
Select item 2766388	NM_000396.4(CTSK):c.891-7C>G	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799475	NM_000396.4(CTSK):c.891-8T>G	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029468	NM_000396.4(CTSK):c.891-14G>A	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018622	NM_000396.4(CTSK):c.891-15T>C	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022794	NM_000396.4(CTSK):c.891-16T>C	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916463	NM_000396.4(CTSK):c.890+19C>G	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2712614	NM_000396.4(CTSK):c.890+14C>T	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018694	NM_000396.4(CTSK):c.890+12A>G	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021539	NM_000396.4(CTSK):c.890+11G>A	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955269	NM_000396.4(CTSK):c.890+11G>C	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2748091	NM_000396.4(CTSK):c.890+9G>A	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1138673	NM_000396.4(CTSK):c.890+8T>C	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1094090	NM_000396.4(CTSK):c.890+8T>G	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 798449	NM_000396.4(CTSK):c.890+8T>A	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919620	NM_000396.4(CTSK):c.890+7A>G	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 292580	NM_000396.4(CTSK):c.890+6G>A	CTSK	Single nucleotide variant (intron variant)	Pyknodysostosis	GUncertain significance
Select item 1923939	NM_000396.4(CTSK):c.890+1G>A	CTSK	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 981510	NM_000396.4(CTSK):c.884A>C (p.Lys295Thr)	CTSK (K295T)	Single nucleotide variant (missense variant)	Pyknodysostosis	GUncertain significance
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 1668744	NM_000396.4(CTSK):c.873C>T (p.His291=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1084227	NM_000396.4(CTSK):c.870G>A (p.Lys290=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1149043	NM_000396.4(CTSK):c.864A>C (p.Gly288=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1966735	NM_000396.4(CTSK):c.862_863insTGG (p.Lys287_Gly288insVal)	CTSK	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1670644	NM_000396.4(CTSK):c.861G>A (p.Lys287=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1638212	NM_000396.4(CTSK):c.849T>C (p.Tyr283=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017115	NM_000396.4(CTSK):c.847T>C (p.Tyr283His)	CTSK (Y283H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2070302	NM_000396.4(CTSK):c.846A>G (p.Gly282=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 642214	NM_000396.4(CTSK):c.833T>A (p.Val278Asp)	CTSK (V278D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102472	NM_000396.4(CTSK):c.831A>T (p.Ala277=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1166561	NM_000396.4(CTSK):c.831A>G (p.Ala277=)	CTSK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 774777	NM_000396.4(CTSK):c.831= (p.Ala277=)	CTSK	Variation (no sequence alteration)	not provided	GBenign
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 2079688	NM_000396.4(CTSK):c.828T>C (p.His276=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 983497	NM_000396.4(CTSK):c.827A>G (p.His276Arg)	CTSK (H276R)	Single nucleotide variant (missense variant)	Pyknodysostosis	GLikely pathogenic
Select item 801542	NM_000396.4(CTSK):c.826C>T (p.His276Tyr)	CTSK (H276Y)	Single nucleotide variant (missense variant)	Pyknodysostosis	GLikely pathogenic
Select item 556938	NM_000396.4(CTSK):c.826del (p.His276fs)	CTSK (H276fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 795239	NM_000396.4(CTSK):c.819T>C (p.Asn273=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961646	NM_000396.4(CTSK):c.818del (p.Asn273fs)	CTSK (N273fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1403119	NM_000396.4(CTSK):c.814G>A (p.Asp272Asn)	CTSK (D272N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1422093	NM_000396.4(CTSK):c.813C>T (p.Ser271=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1091979	NM_000396.4(CTSK):c.798T>C (p.Asp266=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1409673	NM_000396.4(CTSK):c.796G>T (p.Asp266Tyr)	CTSK (D266Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2717212	NM_000396.4(CTSK):c.795T>C (p.Tyr265=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815709	NM_000396.4(CTSK):c.785-2A>C	CTSK	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1655945	NM_000396.4(CTSK):c.785-7A>C	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2013744	NM_000396.4(CTSK):c.785-9G>A	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634993	NM_000396.4(CTSK):c.785-9G>C	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1581171	NM_000396.4(CTSK):c.785-10dup	CTSK	Duplication (intron variant)	not provided	GLikely benign
Select item 2894165	NM_000396.4(CTSK):c.785-17G>A	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600703	NM_000396.4(CTSK):c.785-20G>A	CTSK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2903979	NM_000396.4(CTSK):c.784+20A>G	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022636	NM_000396.4(CTSK):c.784+19T>C	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749001	NM_000396.4(CTSK):c.784+16T>C	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781991	NM_000396.4(CTSK):c.784+12C>T	CTSK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2194913	NM_000396.4(CTSK):c.784+4A>G	CTSK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2079076	NM_000396.4(CTSK):c.784+3A>C	CTSK	Single nucleotide variant (intron variant)	not provided	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 2799848	NM_000396.4(CTSK):c.777C>T (p.Tyr259=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2066655	NM_000396.4(CTSK):c.771G>A (p.Gln257=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2165111	NM_000396.4(CTSK):c.765C>T (p.Ser255=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752303	NM_000396.4(CTSK):c.762C>T (p.Thr254=)	CTSK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103406	NM_000396.4(CTSK):c.755G>C (p.Ser252Thr)	CTSK (S252T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 556867	NM_000396.4(CTSK):c.749A>G (p.Asp250Gly)	CTSK (D250G)	Single nucleotide variant (missense variant)	Pyknodysostosis	GUncertain significance
Select item 1301984	NM_000396.4(CTSK):c.746T>A (p.Ile249Asn)	CTSK (I249N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 962917	NM_000396.4(CTSK):c.746T>C (p.Ile249Thr)	CTSK (I249T)	Single nucleotide variant (missense variant)	Pyknodysostosis +1 more	GPathogenic/Likely pathogenic

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