cathepsin X - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 114

<< First< Prev

Page of 2

	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 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 1726462	NM_000396.4(CTSK):c.712delinsTCAGGCTTGCAT (p.Ala238fs)	CTSK (A238fs)	Indel (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 1725649	NM_000396.4(CTSK):c.696_697del (p.Lys233fs)	CTSK (K233fs)	Microsatellite (frameshift variant)	Pyknodysostosis	GLikely pathogenic
Select item 1724532	NM_000396.4(CTSK):c.690del (p.Asn231fs)	CTSK (N231fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely 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 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 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 1724987	NM_000396.4(CTSK):c.616C>T (p.Gln206Ter)	CTSK (Q206*)	Single nucleotide variant (nonsense)	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 1724839	NM_000396.4(CTSK):c.475_476insAGCCATCATTG (p.Leu159fs)	CTSK (L159fs)	Insertion (frameshift variant)	Pyknodysostosis	GLikely 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 1726007	NM_000396.4(CTSK):c.417T>A (p.Cys139Ter)	CTSK (C139*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely 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 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 555205	NM_000396.4(CTSK):c.365G>A (p.Arg122Gln)	CTSK (R122Q)	Single nucleotide variant (missense variant)	Pyknodysostosis	GUncertain significance
Select item 1724997	NM_000396.4(CTSK):c.334G>T (p.Glu112Ter)	CTSK (E112*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely pathogenic
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 1725637	NM_000396.4(CTSK):c.214G>T (p.Glu72Ter)	CTSK (E72*)	Single nucleotide variant (nonsense)	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 1725489	NM_000396.4(CTSK):c.163A>T (p.Lys55Ter)	CTSK (K55*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely pathogenic
Select item 1724188	NM_000396.4(CTSK):c.151dup (p.Glu51fs)	CTSK (E51fs)	Duplication (frameshift variant)	Pyknodysostosis	GLikely 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 1726256	NM_000396.4(CTSK):c.127G>T (p.Glu43Ter)	CTSK (E43*)	Single nucleotide variant (nonsense)	Pyknodysostosis	GLikely 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 1724320	NM_000396.4(CTSK):c.113del (p.Asn38fs)	CTSK (N38fs)	Deletion (frameshift variant)	Pyknodysostosis	GLikely pathogenic
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
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 221719	GRCh37/hg19 8p23.1(chr8:8131816-12249050)x1	BLK, C8orf74 +28 more	Copy number loss	Premature ovarian failure	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 527749	NM_001909.5(CTSD):c.592A>G (p.Ile198Val)	CTSD (I198V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2