Ctsk Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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410 records found for search term Ctsk

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11591554	CV276620	single nucleotide variant	NM_000396.3(CTSK):c.-91G>A	Pyknodysostosis [RCV000330042]	uncertain significance	1	150808303	150808303	Human	1	name
11584959	CV277236	single nucleotide variant	NM_000396.3(CTSK):c.-72T>C	Pyknodysostosis [RCV000277581]	uncertain significance	1	150808284	150808284	Human	1	name
28894381	CV862258	single nucleotide variant	NM_000396.3(CTSK):c.-83G>A	Pyknodysostosis [RCV001101362]	uncertain significance	1	150808295	150808295	Human	1	name
11581445	CV267313	single nucleotide variant	NM_000396.4(CTSK):c.-1-9C>T	Pyknodysostosis [RCV000369796]\|not provided [RCV000295068]	uncertain significance	1	150806815	150806815	Human	1	name
11660611	CV276391	single nucleotide variant	NM_000396.3(CTSK):c.-185C>T	Pyknodysostosis [RCV000368411]	uncertain significance	1	150808397	150808397	Human	1	name
28883821	CV862253	single nucleotide variant	NM_000396.4(CTSK):c.*467A>G	Pyknodysostosis [RCV001097612]	uncertain significance	1	150796332	150796332	Human	1	name
28883824	CV862254	single nucleotide variant	NM_000396.4(CTSK):c.*461C>A	Pyknodysostosis [RCV001097613]	uncertain significance	1	150796338	150796338	Human	1	name
28883830	CV862255	single nucleotide variant	NM_000396.4(CTSK):c.*342C>T	Pyknodysostosis [RCV001097614]	uncertain significance	1	150796457	150796457	Human	1	name
127235565	CV1066229	single nucleotide variant	NM_000396.4(CTSK):c.890+8T>G	not provided [RCV001414496]	likely benign	1	150799160	150799160	Human		name
127336652	CV1109491	single nucleotide variant	NM_000396.4(CTSK):c.890+8T>C	not provided [RCV001475121]	likely benign	1	150799160	150799160	Human		name
127298895	CV1130392	single nucleotide variant	NM_000396.4(CTSK):c.243+8T>C	not provided [RCV001498178]	likely benign	1	150806094	150806094	Human		name
151351402	CV1323427	single nucleotide variant	NM_000396.4(CTSK):c.399+1G>A	Pyknodysostosis [RCV001805755]	pathogenic	1	150805860	150805860	Human	1	name
151351538	CV1323555	single nucleotide variant	NM_000396.4(CTSK):c.120+1G>T	Pyknodysostosis [RCV001806411]	pathogenic	1	150806685	150806685	Human	1	name
151760441	CV1404019	single nucleotide variant	NM_000396.4(CTSK):c.244-1G>A	not provided [RCV002007797]	likely pathogenic	1	150806017	150806017	Human		name
151810308	CV1446469	single nucleotide variant	NM_000396.4(CTSK):c.244-2A>T	not provided [RCV002012370]	likely pathogenic	1	150806018	150806018	Human		name
152159108	CV1529192	single nucleotide variant	NM_000396.4(CTSK):c.785-7A>C	not provided [RCV002159318]	likely benign	1	150799280	150799280	Human		name
152141471	CV1532926	single nucleotide variant	NM_000396.4(CTSK):c.120+9G>A	not provided [RCV002156827]	likely benign	1	150806677	150806677	Human		name
152153005	CV1545230	duplication	NM_000396.4(CTSK):c.243+6dup	not provided [RCV002139808]	likely benign	1	150806095	150806096	Human		name
152170053	CV1610719	single nucleotide variant	NM_000396.4(CTSK):c.785-9G>C	not provided [RCV002142995]	likely benign	1	150799282	150799282	Human		name
152069131	CV1613933	single nucleotide variant	NM_000396.4(CTSK):c.244-7G>A	not provided [RCV002074858]	likely benign	1	150806023	150806023	Human		name
152169331	CV1614192	single nucleotide variant	NM_000396.4(CTSK):c.120+8G>A	not provided [RCV002161408]	likely benign	1	150806678	150806678	Human		name
152027456	CV1626925	single nucleotide variant	NM_000396.4(CTSK):c.121-8T>C	not provided [RCV002185505]	likely benign	1	150806232	150806232	Human		name
152099217	CV1627215	deletion	NM_000396.4(CTSK):c.619-3del	not provided [RCV002095287]	likely benign	1	150799712	150799712	Human		name
152099502	CV1627280	single nucleotide variant	NM_000396.4(CTSK):c.400-8C>T	not provided [RCV002095328]	likely benign	1	150804247	150804247	Human		name
152980440	CV1678615	single nucleotide variant	NM_000396.4(CTSK):c.243+4A>T	not specified [RCV002247123]	uncertain significance	1	150806098	150806098	Human		name
156036219	CV1932756	single nucleotide variant	NM_000396.4(CTSK):c.784+4A>G	not provided [RCV002637383]	uncertain significance	1	150799540	150799540	Human		name
156387181	CV1986719	single nucleotide variant	NM_000396.4(CTSK):c.890+1G>A	not provided [RCV002634690]	pathogenic	1	150799167	150799167	Human		name
156170725	CV2016129	single nucleotide variant	NM_000396.4(CTSK):c.399+8C>G	not provided [RCV002710476]	likely benign	1	150805853	150805853	Human		name
156219966	CV2067827	single nucleotide variant	NM_000396.4(CTSK):c.785-9G>A	not provided [RCV002829647]	likely benign	1	150799282	150799282	Human		name
156237593	CV2108938	single nucleotide variant	NM_000396.4(CTSK):c.619-7C>A	not provided [RCV002933080]	likely benign	1	150799716	150799716	Human		name
156152411	CV2131843	single nucleotide variant	NM_000396.4(CTSK):c.784+3A>C	not provided [RCV002982699]	uncertain significance	1	150799541	150799541	Human		name
11657768	CV277234	single nucleotide variant	NM_000396.4(CTSK):c.890+6G>A	Pyknodysostosis [RCV000343755]	uncertain significance	1	150799162	150799162	Human	1	name
402472786	CV2912302	single nucleotide variant	NM_000396.4(CTSK):c.890+9G>A	not provided [RCV003570789]	likely benign	1	150799159	150799159	Human		name
402477582	CV2914244	deletion	NM_000396.4(CTSK):c.121-6del	not provided [RCV003571613]	likely benign	1	150806230	150806230	Human		name
405204011	CV2915236	single nucleotide variant	NM_000396.4(CTSK):c.244-2A>C	not provided [RCV003566204]	likely pathogenic	1	150806018	150806018	Human		name
405035908	CV2923617	single nucleotide variant	NM_000396.4(CTSK):c.399+8C>T	not provided [RCV003578700]	likely benign	1	150805853	150805853	Human		name
405058681	CV2928851	single nucleotide variant	NM_000396.4(CTSK):c.891-7C>G	not provided [RCV003580244]	likely benign	1	150796905	150796905	Human		name
405134202	CV2959299	single nucleotide variant	NM_000396.4(CTSK):c.891-8T>G	not provided [RCV003668548]	likely benign	1	150796906	150796906	Human		name
405247473	CV2966545	single nucleotide variant	NM_000396.4(CTSK):c.785-2A>C	not provided [RCV003685562]	likely pathogenic	1	150799275	150799275	Human		name
405036345	CV3072502	single nucleotide variant	NM_000396.4(CTSK):c.890+7A>G	not provided [RCV003739440]	likely benign	1	150799161	150799161	Human		name
12740081	CV356987	deletion	NM_000396.4(CTSK):c.399+2del	Pyknodysostosis [RCV000411145]	likely pathogenic	1	150805859	150805859	Human	1	name
12739139	CV356990	single nucleotide variant	NM_000396.4(CTSK):c.243+1G>A	Pyknodysostosis [RCV000408975]	likely pathogenic	1	150806101	150806101	Human	1	name
12739850	CV356992	single nucleotide variant	NM_000396.4(CTSK):c.121-2A>G	Pyknodysostosis [RCV000410588]\|not provided [RCV001861371]	pathogenic\|likely pathogenic	1	150806226	150806226	Human	1	name
12739874	CV356993	single nucleotide variant	NM_000396.4(CTSK):c.120+1G>A	Pyknodysostosis [RCV000410647]\|not provided [RCV003679001]	pathogenic\|likely pathogenic	1	150806685	150806685	Human	1	name
597683381	CV3725699	single nucleotide variant	NM_000396.4(CTSK):c.784+1G>C	Pyknodysostosis [RCV005045604]	likely pathogenic	1	150799543	150799543	Human	1	name
13789086	CV540651	single nucleotide variant	NM_000396.4(CTSK):c.400-1G>C	Pyknodysostosis [RCV000665773]\|not provided [RCV002530666]	likely pathogenic	1	150804240	150804240	Human	1	name
13790051	CV540656	single nucleotide variant	NM_000396.4(CTSK):c.784+1G>A	Pyknodysostosis [RCV000666321]\|not provided [RCV000797201]	likely pathogenic	1	150799543	150799543	Human	1	name
13790320	CV540657	single nucleotide variant	NM_000396.4(CTSK):c.618+1G>A	Pyknodysostosis [RCV000666473]	likely pathogenic	1	150804020	150804020	Human	1	name
14396499	CV612342	single nucleotide variant	NM_000396.4(CTSK):c.891-1G>T	Pyknodysostosis [RCV000761474]	pathogenic	1	150796899	150796899	Human	1	name
14396526	CV612343	single nucleotide variant	NM_000396.4(CTSK):c.618+2T>G	Pyknodysostosis [RCV000761424]	likely pathogenic	1	150804019	150804019	Human	1	name
15104247	CV729917	single nucleotide variant	NM_000396.4(CTSK):c.399+9C>T	Pyknodysostosis [RCV001272785]\|not provided [RCV000892845]	benign\|uncertain significance	1	150805852	150805852	Human	1	name
15186274	CV774373	single nucleotide variant	NM_000396.4(CTSK):c.619-7C>T	not provided [RCV000931305]	likely benign	1	150799716	150799716	Human		name
15135801	CV786981	single nucleotide variant	NM_000396.4(CTSK):c.890+8T>A	not provided [RCV000981993]	likely benign	1	150799160	150799160	Human		name
26897302	CV850725	single nucleotide variant	NM_000396.4(CTSK):c.121-1G>A	Pyknodysostosis [RCV003467829]\|not provided [RCV001065547]	pathogenic\|likely pathogenic	1	150806225	150806225	Human	1	name
126908308	CV970252	single nucleotide variant	NM_000396.4(CTSK):c.243+4A>G	Pyknodysostosis [RCV001374735]	uncertain significance	1	150806098	150806098	Human	1	name
127260709	CV1087980	single nucleotide variant	NM_000396.4(CTSK):c.120+10G>A	not provided [RCV001427934]	likely benign	1	150806676	150806676	Human		name
150485283	CV1222965	single nucleotide variant	NM_000396.4(CTSK):c.-1-274A>T	not provided [RCV001617677]	benign	1	150807080	150807080	Human		name
150453425	CV1231824	single nucleotide variant	NM_000396.4(CTSK):c.-1-119C>T	not provided [RCV001648131]	benign	1	150806925	150806925	Human		name
150474121	CV1272283	single nucleotide variant	NM_000396.4(CTSK):c.-1-242A>T	not provided [RCV001695821]	benign	1	150807048	150807048	Human		name
151860762	CV1374110	single nucleotide variant	NM_000396.4(CTSK):c.121-15C>G	not provided [RCV001938511]	uncertain significance	1	150806239	150806239	Human		name
152121827	CV1521503	single nucleotide variant	NM_000396.4(CTSK):c.120+19G>A	not provided [RCV002135801]	likely benign	1	150806667	150806667	Human		name
152030554	CV1534271	duplication	NM_000396.4(CTSK):c.785-10dup	not provided [RCV002086165]	likely benign	1	150799282	150799283	Human		name
152031787	CV1546130	single nucleotide variant	NM_000396.4(CTSK):c.785-20G>A	not provided [RCV002124629]	benign	1	150799293	150799293	Human		name
152030084	CV1565990	single nucleotide variant	NM_000396.4(CTSK):c.618+13C>T	not provided [RCV002086025]	likely benign	1	150804008	150804008	Human		name
152032949	CV1614932	single nucleotide variant	NM_000396.4(CTSK):c.243+18T>A	not provided [RCV002086682]	benign	1	150806084	150806084	Human		name
152109665	CV1665072	single nucleotide variant	NM_000396.4(CTSK):c.619-10T>C	not provided [RCV002080074]	likely benign	1	150799719	150799719	Human		name
155957326	CV2078399	single nucleotide variant	NM_000396.4(CTSK):c.891-14G>A	not provided [RCV002880836]	likely benign	1	150796912	150796912	Human		name
156138017	CV2109630	single nucleotide variant	NM_000396.4(CTSK):c.619-13T>C	not provided [RCV002928450]	likely benign	1	150799722	150799722	Human		name
155935419	CV2138772	single nucleotide variant	NM_000396.4(CTSK):c.120+20G>A	not provided [RCV002993683]	likely benign	1	150806666	150806666	Human		name
156337305	CV2168533	single nucleotide variant	NM_000396.4(CTSK):c.618+17C>T	not provided [RCV003030093]	likely benign	1	150804004	150804004	Human		name
405063938	CV2868451	single nucleotide variant	NM_000396.4(CTSK):c.890+14C>T	not provided [RCV003548037]	likely benign	1	150799154	150799154	Human		name
405127932	CV2882906	single nucleotide variant	NM_000396.4(CTSK):c.400-14T>C	not provided [RCV003559648]	likely benign	1	150804253	150804253	Human		name
405233885	CV2906636	single nucleotide variant	NM_000396.4(CTSK):c.400-15C>G	not provided [RCV003555826]	likely benign	1	150804254	150804254	Human		name
405204790	CV2915361	single nucleotide variant	NM_000396.4(CTSK):c.784+16T>C	not provided [RCV003566260]	likely benign	1	150799528	150799528	Human		name
402507791	CV2944433	single nucleotide variant	NM_000396.4(CTSK):c.784+12C>T	not provided [RCV003662189]	likely benign	1	150799532	150799532	Human		name
405166398	CV2957341	single nucleotide variant	NM_000396.4(CTSK):c.120+19G>T	not provided [RCV003675021]	likely benign	1	150806667	150806667	Human		name
405188039	CV2977715	single nucleotide variant	NM_000396.4(CTSK):c.400-13G>A	not provided [RCV003706180]	likely benign	1	150804252	150804252	Human		name
405013876	CV2997563	single nucleotide variant	NM_000396.4(CTSK):c.618+12C>T	not provided [RCV003694125]	likely benign	1	150804009	150804009	Human		name
405095792	CV3045654	single nucleotide variant	NM_000396.4(CTSK):c.400-20T>C	not provided [RCV003718030]	likely benign	1	150804259	150804259	Human		name
405142117	CV3046097	single nucleotide variant	NM_000396.4(CTSK):c.785-17G>A	not provided [RCV003725678]	likely benign	1	150799290	150799290	Human		name
405252116	CV3050792	single nucleotide variant	NM_000396.4(CTSK):c.618+16A>G	not provided [RCV003722077]	likely benign	1	150804005	150804005	Human		name
405146550	CV3052343	single nucleotide variant	NM_000396.4(CTSK):c.244-20C>A	not provided [RCV003726014]	likely benign	1	150806036	150806036	Human		name
405251044	CV3053109	single nucleotide variant	NM_000396.4(CTSK):c.244-20C>G	not provided [RCV003721711]	likely benign	1	150806036	150806036	Human		name
405159957	CV3061724	single nucleotide variant	NM_000396.4(CTSK):c.784+20A>G	not provided [RCV003726983]	likely benign	1	150799524	150799524	Human		name
405204267	CV3063268	single nucleotide variant	NM_000396.4(CTSK):c.399+13C>A	not provided [RCV003731043]	likely benign	1	150805848	150805848	Human		name
405187887	CV3068871	single nucleotide variant	NM_000396.4(CTSK):c.619-16A>G	not provided [RCV003729378]	likely benign	1	150799725	150799725	Human		name
405234617	CV3073778	single nucleotide variant	NM_000396.4(CTSK):c.244-14C>A	not provided [RCV003735591]	likely benign	1	150806030	150806030	Human		name
405029135	CV3076274	single nucleotide variant	NM_000396.4(CTSK):c.619-19A>G	not provided [RCV003738950]	likely benign	1	150799728	150799728	Human		name
405026308	CV3079139	single nucleotide variant	NM_000396.4(CTSK):c.120+15G>A	not provided [RCV003738769]	likely benign	1	150806671	150806671	Human		name
405049127	CV3079894	single nucleotide variant	NM_000396.4(CTSK):c.890+19C>G	not provided [RCV003740412]	likely benign	1	150799149	150799149	Human		name
405162449	CV3125139	single nucleotide variant	NM_000396.4(CTSK):c.120+18G>T	not provided [RCV003818410]	likely benign	1	150806668	150806668	Human		name
405163079	CV3125172	single nucleotide variant	NM_000396.4(CTSK):c.890+11G>C	not provided [RCV003818444]	likely benign	1	150799157	150799157	Human		name
405108504	CV3136618	single nucleotide variant	NM_000396.4(CTSK):c.121-11G>A	not provided [RCV003835772]	likely benign	1	150806235	150806235	Human		name
405179789	CV3151091	single nucleotide variant	NM_000396.4(CTSK):c.399+16C>T	not provided [RCV003842175]	likely benign	1	150805845	150805845	Human		name
405217315	CV3160893	single nucleotide variant	NM_000396.4(CTSK):c.243+20C>G	not provided [RCV003862955]	likely benign	1	150806082	150806082	Human		name
402475680	CV3172744	single nucleotide variant	NM_000396.4(CTSK):c.890+11G>A	not provided [RCV003875162]	likely benign	1	150799157	150799157	Human		name
404993373	CV3176390	single nucleotide variant	NM_000396.4(CTSK):c.784+19T>C	not provided [RCV003881822]	likely benign	1	150799525	150799525	Human		name
404995260	CV3176548	single nucleotide variant	NM_000396.4(CTSK):c.891-16T>C	not provided [RCV003881980]	likely benign	1	150796914	150796914	Human		name
402515656	CV3178836	single nucleotide variant	NM_000396.4(CTSK):c.891-15T>C	not provided [RCV003879269]	likely benign	1	150796913	150796913	Human		name
402516762	CV3178908	single nucleotide variant	NM_000396.4(CTSK):c.890+12A>G	not provided [RCV003879341]	likely benign	1	150799156	150799156	Human		name
597835405	CV3828210	single nucleotide variant	NM_000396.4(CTSK):c.399+18G>T	not provided [RCV005171102]	likely benign	1	150805843	150805843	Human		name
597892490	CV3840181	single nucleotide variant	NM_000396.4(CTSK):c.785-19C>G	not provided [RCV005179880]	likely benign	1	150799292	150799292	Human		name
40814912	CV970194	single nucleotide variant	NM_000396.4(CTSK):c.244-29A>G	Pyknodysostosis [RCV001261622]\|not provided [RCV002537623]	pathogenic\|likely pathogenic	1	150806045	150806045	Human	1	name
150514918	CV1228672	microsatellite	NM_000396.4(CTSK):c.-1-219GA[17]	not provided [RCV001638660]	benign	1	150807005	150807006	Human		name
150508790	CV1229732	microsatellite	NM_000396.4(CTSK):c.-1-318TG[16]	not provided [RCV001636310]	benign	1	150807081	150807092	Human		name
150491636	CV1267808	microsatellite	NM_000396.4(CTSK):c.-1-219GA[19]	not provided [RCV001687833]	benign	1	150807005	150807006	Human		name
150512420	CV1284932	microsatellite	NM_000396.4(CTSK):c.-1-219GA[20]	not provided [RCV001721801]	benign	1	150807005	150807006	Human		name
401943989	CV2837291	deletion	NM_000396.4(CTSK):c.239_243+1del	Pyknodysostosis [RCV003468567]	likely pathogenic	1	150806101	150806106	Human	1	name
13783275	CV540673	duplication	NM_000396.4(CTSK):c.891-21_892dup	Pyknodysostosis [RCV000669917]	likely pathogenic	1	150796896	150796897	Human	1	name
156344598	CV1981805	single nucleotide variant	NM_000396.4(CTSK):c.9G>A (p.Gly3=)	not provided [RCV002631610]	likely benign	1	150806797	150806797	Human		name
127274427	CV1066238	single nucleotide variant	NM_000396.4(CTSK):c.18T>G (p.Val6=)	not provided [RCV001406300]	likely benign	1	150806788	150806788	Human		name
127333385	CV1130393	single nucleotide variant	NM_000396.4(CTSK):c.21G>T (p.Leu7=)	not provided [RCV001490148]	likely benign	1	150806785	150806785	Human		name
156319438	CV1876328	single nucleotide variant	NM_000396.4(CTSK):c.12C>T (p.Leu4=)	not provided [RCV003062964]	likely benign	1	150806794	150806794	Human		name
156208098	CV2076815	single nucleotide variant	NM_000396.4(CTSK):c.15G>A (p.Lys5=)	not provided [RCV002852719]	likely benign	1	150806791	150806791	Human		name
11581137	CV277136	deletion	NM_000396.4(CTSK):c.244-10_244-8del	Pyknodysostosis [RCV000357194]\|not provided [RCV000942070]	benign\|uncertain significance	1	150806024	150806026	Human	1	name
401944003	CV2837295	deletion	NM_000396.4(CTSK):c.9del (p.Leu4fs)	Pyknodysostosis [RCV003468571]	likely pathogenic	1	150806797	150806797	Human	1	name
405193970	CV2925640	single nucleotide variant	NM_000396.4(CTSK):c.12C>G (p.Leu4=)	not provided [RCV003565173]	likely benign	1	150806794	150806794	Human		name
402516771	CV3003105	single nucleotide variant	NM_000396.4(CTSK):c.21G>C (p.Leu7=)	not provided [RCV003716067]	likely benign	1	150806785	150806785	Human		name
405250172	CV3180657	single nucleotide variant	NM_000396.4(CTSK):c.25C>T (p.Leu9=)	not provided [RCV003869934]	likely benign	1	150806781	150806781	Human		name
28889303	CV862257	single nucleotide variant	NM_000396.4(CTSK):c.22C>T (p.Leu8=)	Pyknodysostosis [RCV001099376]\|not provided [RCV001515259]	benign\|uncertain significance	1	150806784	150806784	Human	1	name
126914858	CV1036940	single nucleotide variant	NM_000396.4(CTSK):c.8G>A (p.Gly3Glu)	Pyknodysostosis [RCV001825983]\|not provided [RCV001358634]	likely benign\|uncertain significance	1	150806798	150806798	Human	1	name
127281000	CV1066236	single nucleotide variant	NM_000396.4(CTSK):c.54T>G (p.Pro18=)	not provided [RCV001410164]	likely benign	1	150806752	150806752	Human		name
127261565	CV1066237	single nucleotide variant	NM_000396.4(CTSK):c.30T>G (p.Pro10=)	Pyknodysostosis [RCV001831429]\|not provided [RCV001402467]	likely benign	1	150806776	150806776	Human	1	name
150510931	CV1210625	deletion	NM_000396.4(CTSK):c.-1-280_-1-273del	not provided [RCV001597804]	benign	1	150807079	150807086	Human		name
150505360	CV1222872	deletion	NM_000396.4(CTSK):c.-1-278_-1-273del	not provided [RCV001621806]	benign	1	150807079	150807084	Human		name
150462282	CV1234889	deletion	NM_000396.4(CTSK):c.-1-276_-1-273del	not provided [RCV001649471]	benign	1	150807079	150807082	Human		name
150455857	CV1278414	deletion	NM_000396.4(CTSK):c.-1-276_-1-269del	not provided [RCV001709029]	benign	1	150807075	150807082	Human		name
152077764	CV1531372	single nucleotide variant	NM_000396.4(CTSK):c.33G>C (p.Val11=)	not provided [RCV002210821]	likely benign	1	150806773	150806773	Human		name
152152269	CV1559833	single nucleotide variant	NM_000396.4(CTSK):c.64C>T (p.Leu22=)	not provided [RCV002220999]	likely benign	1	150806742	150806742	Human		name
152070233	CV1579760	single nucleotide variant	NM_000396.4(CTSK):c.39C>T (p.Ser13=)	not provided [RCV002075004]	likely benign	1	150806767	150806767	Human		name
156416037	CV1983903	single nucleotide variant	NM_000396.4(CTSK):c.57G>A (p.Glu19=)	not provided [RCV002609962]	likely benign	1	150806749	150806749	Human		name
156025287	CV2055784	single nucleotide variant	NM_000396.4(CTSK):c.81G>A (p.Glu27=)	not provided [RCV002820814]	likely benign	1	150806725	150806725	Human		name
156327562	CV2068754	single nucleotide variant	NM_000396.4(CTSK):c.1A>G (p.Met1Val)	not provided [RCV002835105]	pathogenic	1	150806805	150806805	Human		name
11638834	CV275280	single nucleotide variant	NM_000396.4(CTSK):c.90G>A (p.Lys30=)	not provided [RCV000309348]	uncertain significance	1	150806716	150806716	Human		name
405161588	CV2899489	single nucleotide variant	NM_000396.4(CTSK):c.45T>C (p.Ala15=)	not provided [RCV003562436]	likely benign	1	150806761	150806761	Human		name
12738753	CV356996	single nucleotide variant	NM_000396.4(CTSK):c.3G>T (p.Met1Ile)	Pyknodysostosis [RCV000412093]	likely pathogenic	1	150806803	150806803	Human	1	name
13790969	CV540661	single nucleotide variant	NM_000396.4(CTSK):c.3G>A (p.Met1Ile)	Pyknodysostosis [RCV000666918]\|not provided [RCV002530701]	pathogenic\|likely pathogenic	1	150806803	150806803	Human	1	name
15191591	CV696078	variation	NM_000396.4(CTSK):c.831= (p.Ala277=)	not provided [RCV000954822]	benign	1	150799227	150799227	Human		name
40814913	CV970195	single nucleotide variant	NM_000396.4(CTSK):c.5G>A (p.Trp2Ter)	Pyknodysostosis [RCV001261623]	pathogenic	1	150806801	150806801	Human	1	name
127230997	CV1066235	single nucleotide variant	NM_000396.4(CTSK):c.204C>T (p.Val68=)	not provided [RCV001395066]	likely benign	1	150806141	150806141	Human		name
152114252	CV1534496	single nucleotide variant	NM_000396.4(CTSK):c.255G>A (p.Glu85=)	not provided [RCV002097256]	likely benign	1	150806005	150806005	Human		name
152036282	CV1553219	single nucleotide variant	NM_000396.4(CTSK):c.232C>T (p.Leu78=)	not provided [RCV002187552]	likely benign	1	150806113	150806113	Human		name
152077241	CV1560715	single nucleotide variant	NM_000396.4(CTSK):c.16G>T (p.Val6Phe)	not provided [RCV002112271]	likely benign	1	150806790	150806790	Human		name
152982837	CV1677698	duplication	NM_000396.4(CTSK):c.83dup (p.Trp29fs)	Pyknodysostosis [RCV002249851]\|not provided [RCV005095822]	pathogenic	1	150806722	150806723	Human	1	name
156365961	CV1909265	single nucleotide variant	NM_000396.4(CTSK):c.153A>G (p.Glu51=)	not provided [RCV002602829]	likely benign	1	150806192	150806192	Human		name
156418120	CV1914444	single nucleotide variant	NM_000396.4(CTSK):c.291G>A (p.Leu97=)	not provided [RCV002611295]	likely benign	1	150805969	150805969	Human		name
156093127	CV2014113	single nucleotide variant	NM_000396.4(CTSK):c.249T>C (p.Ser83=)	not provided [RCV002695016]	likely benign	1	150806011	150806011	Human		name
156116685	CV2058515	single nucleotide variant	NM_000396.4(CTSK):c.267G>A (p.Lys89=)	not provided [RCV002825134]	likely benign	1	150805993	150805993	Human		name
156131890	CV2084959	single nucleotide variant	NM_000396.4(CTSK):c.147T>C (p.Ile49=)	not provided [RCV002871665]	likely benign	1	150806198	150806198	Human		name
401932762	CV2809242	single nucleotide variant	NM_000396.4(CTSK):c.162G>C (p.Leu54=)	not provided [RCV003408858]	uncertain significance	1	150806183	150806183	Human		name
405212844	CV2878753	single nucleotide variant	NM_000396.4(CTSK):c.237G>T (p.Gly79=)	not provided [RCV003552817]	likely benign	1	150806108	150806108	Human		name
405171841	CV2897573	single nucleotide variant	NM_000396.4(CTSK):c.258G>A (p.Val86=)	not provided [RCV003563188]	likely benign	1	150806002	150806002	Human		name
402464256	CV2920029	single nucleotide variant	NM_000396.4(CTSK):c.195T>C (p.Ser65=)	not provided [RCV003568946]	likely benign	1	150806150	150806150	Human		name
402493800	CV2982110	single nucleotide variant	NM_000396.4(CTSK):c.204C>A (p.Val68=)	not provided [RCV003714038]	likely benign	1	150806141	150806141	Human		name
402484620	CV3002081	single nucleotide variant	NM_000396.4(CTSK):c.276A>C (p.Gly92=)	not provided [RCV003686937]	likely benign	1	150805984	150805984	Human		name
405117778	CV3030329	single nucleotide variant	NM_000396.4(CTSK):c.114C>T (p.Asn38=)	not provided [RCV003700422]	likely benign	1	150806692	150806692	Human		name
405872885	CV3400209	single nucleotide variant	NM_000396.4(CTSK):c.20T>C (p.Leu7Pro)	Pyknodysostosis [RCV004575714]	likely pathogenic	1	150806786	150806786	Human	1	name
12740543	CV356994	deletion	NM_000396.4(CTSK):c.48del (p.Tyr17fs)	Pyknodysostosis [RCV000412289]\|not provided [RCV003766128]	pathogenic\|likely pathogenic	1	150806758	150806758	Human	1	name
12739296	CV356995	single nucleotide variant	NM_000396.4(CTSK):c.26T>C (p.Leu9Pro)	Pyknodysostosis [RCV000409305]\|not provided [RCV003558364]	likely pathogenic	1	150806780	150806780	Human	1	name
15168758	CV745670	single nucleotide variant	NM_000396.4(CTSK):c.183C>T (p.Asn61=)	not provided [RCV000927359]	likely benign	1	150806162	150806162	Human		name
15176410	CV761187	single nucleotide variant	NM_000396.4(CTSK):c.135T>C (p.Ser45=)	not provided [RCV000928911]	likely benign	1	150806210	150806210	Human		name
15186582	CV761188	single nucleotide variant	NM_000396.4(CTSK):c.117C>T (p.Asn39=)	Pyknodysostosis [RCV001272786]\|not provided [RCV000931398]	likely benign	1	150806689	150806689	Human	1	name
15121627	CV780326	single nucleotide variant	NM_000396.4(CTSK):c.156A>G (p.Lys52=)	not provided [RCV000979501]	likely benign	1	150806189	150806189	Human		name
127245085	CV1058413	deletion	NM_000396.4(CTSK):c.158del (p.Asn53fs)	not provided [RCV001384298]	pathogenic	1	150806187	150806187	Human		name
127277165	CV1066227	single nucleotide variant	NM_000396.4(CTSK):c.960T>A (p.Ile320=)	not provided [RCV001407601]	likely benign	1	150796829	150796829	Human		name
127242076	CV1066228	single nucleotide variant	NM_000396.4(CTSK):c.918A>C (p.Gly306=)	not provided [RCV001398121]	likely benign	1	150796871	150796871	Human		name
127256149	CV1066230	single nucleotide variant	NM_000396.4(CTSK):c.870G>A (p.Lys290=)	not provided [RCV001401199]	likely benign	1	150799188	150799188	Human		name
127283225	CV1066231	single nucleotide variant	NM_000396.4(CTSK):c.798T>C (p.Asp266=)	not provided [RCV001411622]	likely benign	1	150799260	150799260	Human		name
127279255	CV1066232	single nucleotide variant	NM_000396.4(CTSK):c.627T>C (p.Ser209=)	not provided [RCV001408967]	likely benign	1	150799701	150799701	Human		name
127241451	CV1066234	single nucleotide variant	NM_000396.4(CTSK):c.486G>T (p.Leu162=)	not provided [RCV001397990]	likely benign	1	150804153	150804153	Human		name
127277602	CV1087978	single nucleotide variant	NM_000396.4(CTSK):c.948C>T (p.Asn316=)	not provided [RCV001444529]	likely benign	1	150796841	150796841	Human		name
127271834	CV1087979	single nucleotide variant	NM_000396.4(CTSK):c.703C>T (p.Leu235=)	not provided [RCV001441966]	likely benign	1	150799625	150799625	Human		name
127291756	CV1109492	single nucleotide variant	NM_000396.4(CTSK):c.721C>A (p.Arg241=)	not provided [RCV001458823]	likely benign	1	150799607	150799607	Human		name
127311554	CV1109493	single nucleotide variant	NM_000396.4(CTSK):c.442C>T (p.Leu148=)	not provided [RCV001464182]	likely benign	1	150804197	150804197	Human		name
127294276	CV1109494	single nucleotide variant	NM_000396.4(CTSK):c.384T>C (p.Thr128=)	not provided [RCV001452205]	likely benign	1	150805876	150805876	Human		name
127306719	CV1130384	single nucleotide variant	NM_000396.4(CTSK):c.951C>G (p.Ala317=)	not provided [RCV001480164]	likely benign	1	150796838	150796838	Human		name
127308664	CV1130385	single nucleotide variant	NM_000396.4(CTSK):c.927C>T (p.Leu309=)	not provided [RCV001480666]	likely benign	1	150796862	150796862	Human		name
127331902	CV1130386	single nucleotide variant	NM_000396.4(CTSK):c.864A>C (p.Gly288=)	not provided [RCV001489124]	likely benign	1	150799194	150799194	Human		name
127300225	CV1130387	single nucleotide variant	NM_000396.4(CTSK):c.669G>A (p.Gly223=)	not provided [RCV001498546]	likely benign	1	150799659	150799659	Human		name
127325037	CV1130388	single nucleotide variant	NM_000396.4(CTSK):c.600C>T (p.Ala200=)	not provided [RCV001505867]	likely benign	1	150804039	150804039	Human		name
127303022	CV1130389	single nucleotide variant	NM_000396.4(CTSK):c.513G>A (p.Val171=)	not provided [RCV001479127]	likely benign	1	150804126	150804126	Human		name
127294297	CV1130390	single nucleotide variant	NM_000396.4(CTSK):c.390C>G (p.Val130=)	not provided [RCV001496950]	likely benign	1	150805870	150805870	Human		name
127316608	CV1130391	single nucleotide variant	NM_000396.4(CTSK):c.351C>T (p.Asp117=)	not provided [RCV001503065]	likely benign	1	150805909	150805909	Human		name
127302058	CV1153247	single nucleotide variant	NM_000396.4(CTSK):c.831A>G (p.Ala277=)	Pyknodysostosis [RCV001537652]\|not provided [RCV001514921]	benign	1	150799227	150799227	Human	1	name
151877815	CV1337707	single nucleotide variant	NM_000396.4(CTSK):c.813C>T (p.Ser271=)	not provided [RCV001926045]	likely benign	1	150799245	150799245	Human		name
152129320	CV1550674	single nucleotide variant	NM_000396.4(CTSK):c.465A>G (p.Lys155=)	not provided [RCV002155312]	likely benign	1	150804174	150804174	Human		name
152106639	CV1560116	single nucleotide variant	NM_000396.4(CTSK):c.849T>C (p.Tyr283=)	not provided [RCV002133935]	likely benign	1	150799209	150799209	Human		name
152096891	CV1566116	single nucleotide variant	NM_000396.4(CTSK):c.522T>C (p.Asn174=)	not provided [RCV002094964]	likely benign	1	150804117	150804117	Human		name
152120350	CV1593796	single nucleotide variant	NM_000396.4(CTSK):c.501A>G (p.Leu167=)	not provided [RCV002098060]	likely benign	1	150804138	150804138	Human		name
152163959	CV1604951	single nucleotide variant	NM_000396.4(CTSK):c.861G>A (p.Lys287=)	not provided [RCV002203935]	likely benign	1	150799197	150799197	Human		name
152106682	CV1605177	single nucleotide variant	NM_000396.4(CTSK):c.366A>G (p.Arg122=)	not provided [RCV002196241]	likely benign	1	150805894	150805894	Human		name
152036859	CV1609922	single nucleotide variant	NM_000396.4(CTSK):c.738T>A (p.Ser246=)	not provided [RCV002165091]	likely benign	1	150799590	150799590	Human		name
152090126	CV1634118	single nucleotide variant	NM_000396.4(CTSK):c.873C>T (p.His291=)	not provided [RCV002194186]	likely benign	1	150799185	150799185	Human		name
152074711	CV1635294	single nucleotide variant	NM_000396.4(CTSK):c.981C>T (p.Pro327=)	not provided [RCV002092068]	likely benign	1	150796808	150796808	Human		name
152118961	CV1659116	single nucleotide variant	NM_000396.4(CTSK):c.306T>C (p.Ser102=)	not provided [RCV002175308]	likely benign	1	150805954	150805954	Human		name
152050529	CV1664980	single nucleotide variant	NM_000396.4(CTSK):c.453A>G (p.Gln151=)	not provided [RCV002127193]	likely benign	1	150804186	150804186	Human		name
155724010	CV1781715	duplication	NM_000396.4(CTSK):c.151dup (p.Glu51fs)	Pyknodysostosis [RCV002306743]	likely pathogenic	1	150806193	150806194	Human	1	name
155736040	CV1781847	deletion	NM_000396.4(CTSK):c.113del (p.Asn38fs)	Pyknodysostosis [RCV002309588]	likely pathogenic	1	150806693	150806693	Human	1	name
156118847	CV1877654	single nucleotide variant	NM_000396.4(CTSK):c.64C>A (p.Leu22Met)	not provided [RCV003081351]	uncertain significance	1	150806742	150806742	Human		name
156147868	CV1895251	single nucleotide variant	NM_000396.4(CTSK):c.765C>T (p.Ser255=)	not provided [RCV003082446]	likely benign	1	150799563	150799563	Human		name
156444073	CV1937591	single nucleotide variant	NM_000396.4(CTSK):c.648C>G (p.Gly216=)	not provided [RCV003114992]	likely benign	1	150799680	150799680	Human		name
156351619	CV2015197	single nucleotide variant	NM_000396.4(CTSK):c.642A>C (p.Pro214=)	not provided [RCV002720225]	likely benign	1	150799686	150799686	Human		name
156180187	CV2023308	single nucleotide variant	NM_000396.4(CTSK):c.726G>A (p.Val242=)	not provided [RCV002765592]	likely benign	1	150799602	150799602	Human		name
156173545	CV2026465	single nucleotide variant	NM_000396.4(CTSK):c.934C>A (p.Arg312=)	not provided [RCV002765392]	likely benign	1	150796855	150796855	Human		name
156206842	CV2042287	single nucleotide variant	NM_000396.4(CTSK):c.735C>G (p.Val245=)	not provided [RCV002766451]	likely benign	1	150799593	150799593	Human		name
156013315	CV2046230	single nucleotide variant	NM_000396.4(CTSK):c.43G>C (p.Ala15Pro)	not provided [RCV002795219]	uncertain significance	1	150806763	150806763	Human		name
156361875	CV2119535	single nucleotide variant	NM_000396.4(CTSK):c.846A>G (p.Gly282=)	not provided [RCV002967033]	likely benign\|uncertain significance	1	150799212	150799212	Human		name
156349584	CV2125468	single nucleotide variant	NM_000396.4(CTSK):c.771G>A (p.Gln257=)	not provided [RCV002966199]	likely benign	1	150799557	150799557	Human		name
156309331	CV2133091	single nucleotide variant	NM_000396.4(CTSK):c.82C>G (p.Leu28Val)	not provided [RCV003011016]	uncertain significance	1	150806724	150806724	Human		name
155964809	CV2134738	single nucleotide variant	NM_000396.4(CTSK):c.951C>T (p.Ala317=)	not provided [RCV002972558]	likely benign	1	150796838	150796838	Human		name
156158769	CV2142775	single nucleotide variant	NM_000396.4(CTSK):c.828T>C (p.His276=)	not provided [RCV002982920]	likely benign	1	150799230	150799230	Human		name
156059863	CV2154966	single nucleotide variant	NM_000396.4(CTSK):c.648C>A (p.Gly216=)	not provided [RCV003000165]	likely benign	1	150799680	150799680	Human		name
156055177	CV2165517	single nucleotide variant	NM_000396.4(CTSK):c.831A>T (p.Ala277=)	not provided [RCV003019531]	likely benign	1	150799227	150799227	Human		name
156393524	CV2181604	deletion	NM_000396.4(CTSK):c.290del (p.Leu97fs)	not provided [RCV003051592]	pathogenic	1	150805970	150805970	Human		name
156034046	CV2182369	single nucleotide variant	NM_000396.4(CTSK):c.360C>T (p.Asp120=)	not provided [RCV003036306]	likely benign	1	150805900	150805900	Human		name
11578688	CV276389	single nucleotide variant	NM_000396.4(CTSK):c.684C>T (p.Pro228=)	Pyknodysostosis [RCV000287173]\|not provided [RCV000596324]	conflicting interpretations of pathogenicity\|uncertain significance	1	150799644	150799644	Human	1	name
11580645	CV276616	single nucleotide variant	NM_000396.4(CTSK):c.675A>G (p.Arg225=)	CTSK-related disorder [RCV003910059]\|Pyknodysostosis [RCV000339785]\|not provided [RCV000675967]	benign\|likely benign\|uncertain significance	1	150799653	150799653	Human	1	name , trait , alternate_id
401943900	CV2837287	single nucleotide variant	NM_000396.4(CTSK):c.78G>A (p.Trp26Ter)	Pyknodysostosis [RCV003468563]	likely pathogenic	1	150806728	150806728	Human	1	name
401944000	CV2837294	deletion	NM_000396.4(CTSK):c.119del (p.Lys40fs)	Pyknodysostosis [RCV003468570]	likely pathogenic	1	150806687	150806687	Human	1	name
402483935	CV2860721	single nucleotide variant	NM_000396.4(CTSK):c.387T>G (p.Pro129=)	not provided [RCV003544204]	likely benign	1	150805873	150805873	Human		name
405074828	CV2873038	single nucleotide variant	NM_000396.4(CTSK):c.795T>C (p.Tyr265=)	not provided [RCV003548671]	likely benign	1	150799263	150799263	Human		name
402495179	CV2875082	single nucleotide variant	NM_000396.4(CTSK):c.402T>G (p.Gly134=)	not provided [RCV003545324]	likely benign	1	150804237	150804237	Human		name
402475167	CV2916071	single nucleotide variant	NM_000396.4(CTSK):c.762C>T (p.Thr254=)	not provided [RCV003571304]	likely benign	1	150799566	150799566	Human		name
405066239	CV2923714	single nucleotide variant	NM_000396.4(CTSK):c.963C>T (p.Ala321=)	not provided [RCV003580831]	likely benign	1	150796826	150796826	Human		name
405069576	CV2933249	single nucleotide variant	NM_000396.4(CTSK):c.921T>C (p.Tyr307=)	not provided [RCV003581033]	likely benign	1	150796868	150796868	Human		name
405118738	CV2955788	single nucleotide variant	NM_000396.4(CTSK):c.777C>T (p.Tyr259=)	not provided [RCV003671168]	likely benign	1	150799551	150799551	Human		name
405146272	CV2962674	single nucleotide variant	NM_000396.4(CTSK):c.327A>C (p.Pro109=)	not provided [RCV003673668]	likely benign	1	150805933	150805933	Human		name
405190063	CV2964682	single nucleotide variant	NM_000396.4(CTSK):c.309T>C (p.Asn103=)	not provided [RCV003677119]	likely benign	1	150805951	150805951	Human		name
404991510	CV2999343	single nucleotide variant	NM_000396.4(CTSK):c.411T>A (p.Gly137=)	not provided [RCV003692326]	likely benign	1	150804228	150804228	Human		name
405162274	CV3017855	single nucleotide variant	NM_000396.4(CTSK):c.732T>C (p.Pro244=)	not provided [RCV003704048]	likely benign	1	150799596	150799596	Human		name
405095511	CV3022943	single nucleotide variant	NM_000396.4(CTSK):c.576C>T (p.Asn192=)	not provided [RCV003700054]	likely benign	1	150804063	150804063	Human		name
402511857	CV3042715	duplication	NM_000396.4(CTSK):c.135dup (p.Arg46fs)	not provided [RCV003715758]	pathogenic	1	150806209	150806210	Human		name
405010570	CV3128033	single nucleotide variant	NM_000396.4(CTSK):c.714A>G (p.Ala238=)	not provided [RCV003828913]	likely benign	1	150799614	150799614	Human		name
405136298	CV3130615	single nucleotide variant	NM_000396.4(CTSK):c.673A>C (p.Arg225=)	not provided [RCV003838848]	likely benign	1	150799655	150799655	Human		name
405224477	CV3142196	single nucleotide variant	NM_000396.4(CTSK):c.339T>C (p.Gly113=)	not provided [RCV003847735]	likely benign	1	150805921	150805921	Human		name
405165319	CV3149410	single nucleotide variant	NM_000396.4(CTSK):c.669G>T (p.Gly223=)	not provided [RCV003841072]	likely benign	1	150799659	150799659	Human		name
405189845	CV3149601	single nucleotide variant	NM_000396.4(CTSK):c.537G>C (p.Gly179=)	not provided [RCV003843327]	likely benign	1	150804102	150804102	Human		name
405218623	CV3161324	single nucleotide variant	NM_000396.4(CTSK):c.432T>C (p.Ser144=)	not provided [RCV003863193]	likely benign	1	150804207	150804207	Human		name
405092396	CV3164070	single nucleotide variant	NM_000396.4(CTSK):c.741G>A (p.Val247=)	not provided [RCV003852385]	likely benign	1	150799587	150799587	Human		name
597921402	CV3765283	single nucleotide variant	NM_000396.4(CTSK):c.681C>A (p.Ile227=)	not provided [RCV005115300]	likely benign	1	150799647	150799647	Human		name
597938017	CV3807968	single nucleotide variant	NM_000396.4(CTSK):c.531T>C (p.Cys177=)	not provided [RCV005158347]	likely benign	1	150804108	150804108	Human		name
597963779	CV3830293	single nucleotide variant	NM_000396.4(CTSK):c.978C>T (p.Phe326=)	not provided [RCV005164433]	likely benign	1	150796811	150796811	Human		name
597874646	CV3859644	single nucleotide variant	NM_000396.4(CTSK):c.87G>A (p.Trp29Ter)	not provided [RCV005198048]	pathogenic	1	150806719	150806719	Human		name
597831684	CV3863873	single nucleotide variant	NM_000396.4(CTSK):c.44C>T (p.Ala15Val)	Pyknodysostosis [RCV005208287]	uncertain significance	1	150806762	150806762	Human	1	name
598221703	CV3955909	single nucleotide variant	NM_000396.4(CTSK):c.79G>A (p.Glu27Lys)	Inborn genetic diseases [RCV005317745]	uncertain significance	1	150806727	150806727	Human	1	name
598221715	CV3955912	single nucleotide variant	NM_000396.4(CTSK):c.29C>T (p.Pro10Leu)	Inborn genetic diseases [RCV005317747]	uncertain significance	1	150806777	150806777	Human	1	name
598221721	CV3955913	single nucleotide variant	NM_000396.4(CTSK):c.73C>T (p.His25Tyr)	Inborn genetic diseases [RCV005317748]	uncertain significance	1	150806733	150806733	Human	1	name
15164519	CV706677	single nucleotide variant	NM_000396.4(CTSK):c.357C>T (p.Val119=)	not provided [RCV000970739]	likely benign	1	150805903	150805903	Human		name
15116226	CV780325	single nucleotide variant	NM_000396.4(CTSK):c.819T>C (p.Asn273=)	not provided [RCV000978554]	likely benign	1	150799239	150799239	Human		name
8628902	CV84046	single nucleotide variant	NM_000396.3(CTSK):c.97C>T (p.His33Tyr)	Malignant melanoma [RCV000064127]	not provided	1	150806709	150806709	Human		name
38496981	CV941442	duplication	NM_000396.4(CTSK):c.158dup (p.Asn53fs)	Pyknodysostosis [RCV001374471]\|not provided [RCV001226710]	pathogenic	1	150806186	150806187	Human	1	name
126908311	CV970253	single nucleotide variant	NM_000396.4(CTSK):c.375A>G (p.Gly125=)	Pyknodysostosis [RCV001374736]\|not provided [RCV003222280]	uncertain significance	1	150805885	150805885	Human	1	name
40906258	CV977442	single nucleotide variant	NM_000396.4(CTSK):c.606A>G (p.Pro202=)	Pyknodysostosis [RCV001279611]	uncertain significance	1	150804033	150804033	Human	1	name
127243591	CV1054739	single nucleotide variant	NM_000396.4(CTSK):c.137G>A (p.Arg46Gln)	Pyknodysostosis [RCV005038161]\|not provided [RCV001377128]\|not specified [RCV003331140]	likely pathogenic\|uncertain significance	1	150806208	150806208	Human	1	name
127258194	CV1058407	deletion	NM_000396.4(CTSK):c.493del (p.Gln165fs)	not provided [RCV001386896]	pathogenic	1	150804146	150804146	Human		name
127255561	CV1058408	deletion	NM_000396.4(CTSK):c.429del (p.Ser144fs)	not provided [RCV001386373]	pathogenic	1	150804210	150804210	Human		name
150530147	CV1293367	single nucleotide variant	NM_000396.4(CTSK):c.254A>G (p.Glu85Gly)	not provided [RCV001756588]	uncertain significance	1	150806006	150806006	Human		name
151351544	CV1323558	single nucleotide variant	NM_000396.4(CTSK):c.148T>G (p.Trp50Gly)	Pyknodysostosis [RCV001806414]	likely pathogenic	1	150806197	150806197	Human	1	name
151784558	CV1434708	single nucleotide variant	NM_000396.4(CTSK):c.253G>T (p.Glu85Ter)	not provided [RCV001897553]	pathogenic	1	150806007	150806007	Human		name
151871612	CV1487731	deletion	NM_000396.4(CTSK):c.653del (p.Ala218fs)	not provided [RCV001981371]	pathogenic	1	150799675	150799675	Human		name
152984213	CV1675143	single nucleotide variant	NM_000396.4(CTSK):c.235G>A (p.Gly79Arg)	not provided [RCV003093915]\|not specified [RCV002238567]	likely pathogenic\|uncertain significance	1	150806110	150806110	Human		name
155736323	CV1782059	deletion	NM_000396.4(CTSK):c.690del (p.Asn231fs)	Pyknodysostosis [RCV002309800]	likely pathogenic	1	150799638	150799638	Human	1	name
155735434	CV1783016	single nucleotide variant	NM_000396.4(CTSK):c.163A>T (p.Lys55Ter)	Pyknodysostosis [RCV002309173]	likely pathogenic	1	150806182	150806182	Human	1	name
155735672	CV1783164	single nucleotide variant	NM_000396.4(CTSK):c.214G>T (p.Glu72Ter)	Pyknodysostosis [RCV002309321]	likely pathogenic	1	150806131	150806131	Human	1	name
155726398	CV1783783	single nucleotide variant	NM_000396.4(CTSK):c.127G>T (p.Glu43Ter)	Pyknodysostosis [RCV002307227]	likely pathogenic	1	150806218	150806218	Human	1	name
156392595	CV1879828	single nucleotide variant	NM_000396.4(CTSK):c.140G>A (p.Arg47His)	not provided [RCV003068195]	uncertain significance	1	150806205	150806205	Human		name
156055098	CV1928686	single nucleotide variant	NM_000396.4(CTSK):c.199G>A (p.Gly67Ser)	not provided [RCV002620740]	uncertain significance	1	150806146	150806146	Human		name
156446247	CV1951286	single nucleotide variant	NM_000396.4(CTSK):c.158A>T (p.Asn53Ile)	Inborn genetic diseases [RCV004245960]\|not provided [RCV003117217]	uncertain significance	1	150806187	150806187	Human	1	name
156257482	CV1957109	single nucleotide variant	NM_000396.4(CTSK):c.154A>G (p.Lys52Glu)	not provided [RCV002576733]	uncertain significance	1	150806191	150806191	Human		name
156360581	CV2016615	deletion	NM_000396.4(CTSK):c.818del (p.Asn273fs)	Pyknodysostosis [RCV003465818]\|not provided [RCV002720832]	pathogenic\|likely pathogenic	1	150799240	150799240	Human	1	name
156003612	CV2179279	single nucleotide variant	NM_000396.4(CTSK):c.238G>C (p.Asp80His)	not provided [RCV003034889]	uncertain significance	1	150806107	150806107	Human		name
8560477	CV23463	single nucleotide variant	NM_000396.4(CTSK):c.236G>A (p.Gly79Glu)	Pyknodysostosis [RCV000008935]	pathogenic	1	150806109	150806109	Human	1	name
8560478	CV23464	single nucleotide variant	NM_000396.4(CTSK):c.154A>T (p.Lys52Ter)	Pyknodysostosis [RCV000008936]	pathogenic	1	150806191	150806191	Human	1	name
329375300	CV2468481	single nucleotide variant	NM_000396.4(CTSK):c.268A>G (p.Met90Val)	Inborn genetic diseases [RCV003211108]	uncertain significance	1	150805992	150805992	Human	1	name
11579232	CV276619	single nucleotide variant	NM_000396.4(CTSK):c.115A>T (p.Asn39Tyr)	Pyknodysostosis [RCV000298604]\|not provided [RCV003765699]	uncertain significance	1	150806691	150806691	Human	1	name
11581925	CV277137	single nucleotide variant	NM_000396.4(CTSK):c.169A>G (p.Ile57Val)	Inborn genetic diseases [RCV003165783]\|Pyknodysostosis [RCV000390371]\|not provided [RCV000892785]	likely benign\|uncertain significance	1	150806176	150806176	Human	2	name
401943995	CV2837293	deletion	NM_000396.4(CTSK):c.581del (p.Gly194fs)	Pyknodysostosis [RCV003468569]	likely pathogenic	1	150804058	150804058	Human	1	name
402499346	CV2848874	single nucleotide variant	NM_000396.4(CTSK):c.150G>A (p.Trp50Ter)	Pyknodysostosis [RCV003485990]\|not provided [RCV003575112]	pathogenic\|likely pathogenic	1	150806195	150806195	Human	1	name
402475630	CV2863634	deletion	NM_000396.4(CTSK):c.600del (p.Tyr201fs)	not provided [RCV003543199]	pathogenic	1	150804039	150804039	Human		name
405247004	CV2966553	deletion	NM_000396.4(CTSK):c.908del (p.Gly303fs)	not provided [RCV003685564]	pathogenic	1	150796881	150796881	Human		name
405255200	CV3171996	deletion	NM_000396.4(CTSK):c.529del (p.Cys177fs)	not provided [RCV003872119]	pathogenic	1	150804110	150804110	Human		name
405872883	CV3400208	single nucleotide variant	NM_000396.4(CTSK):c.274G>T (p.Gly92Ter)	Pyknodysostosis [RCV004575713]	likely pathogenic	1	150805986	150805986	Human	1	name
405872886	CV3400210	deletion	NM_000396.4(CTSK):c.655del (p.Ala219fs)	Pyknodysostosis [RCV004575715]	likely pathogenic	1	150799673	150799673	Human	1	name
596944698	CV3543294	deletion	NM_000396.4(CTSK):c.338del (p.Gly113fs)	Pyknodysostosis [RCV004799166]	likely pathogenic	1	150805922	150805922	Human	1	name
12739415	CV356983	deletion	NM_000396.4(CTSK):c.648del (p.Lys217fs)	Pyknodysostosis [RCV000409568]	likely pathogenic	1	150799680	150799680	Human	1	name
12739512	CV356986	deletion	NM_000396.4(CTSK):c.426del (p.Phe142fs)	Pyknodysostosis [RCV000409792]\|not provided [RCV003558359]	pathogenic\|likely pathogenic	1	150804213	150804213	Human	1	name
12740450	CV356988	duplication	NM_000396.4(CTSK):c.395dup (p.Asn132fs)	Pyknodysostosis [RCV000412028]	likely pathogenic	1	150805864	150805865	Human	1	name
12738733	CV356991	single nucleotide variant	NM_000396.4(CTSK):c.213T>A (p.Tyr71Ter)	Pyknodysostosis [RCV000411767]\|not provided [RCV001861365]	pathogenic\|likely pathogenic	1	150806132	150806132	Human	1	name
597684117	CV3726032	duplication	NM_000396.4(CTSK):c.493dup (p.Gln165fs)	Pyknodysostosis [RCV005045674]	likely pathogenic	1	150804145	150804146	Human	1	name
597926793	CV3748945	deletion	NM_000396.4(CTSK):c.915del (p.Gly306fs)	not provided [RCV005075401]	pathogenic	1	150796874	150796874	Human		name
597893249	CV3785416	single nucleotide variant	NM_000396.4(CTSK):c.167A>G (p.Tyr56Cys)	not provided [RCV005126002]	uncertain significance	1	150806178	150806178	Human		name
598160331	CV3955911	single nucleotide variant	NM_000396.4(CTSK):c.238G>A (p.Asp80Asn)	Inborn genetic diseases [RCV005328749]	uncertain significance	1	150806107	150806107	Human	1	name
13786664	CV540638	deletion	NM_000396.4(CTSK):c.826del (p.His276fs)	Pyknodysostosis [RCV000673008]\|not provided [RCV001213837]	likely pathogenic	1	150799232	150799232	Human	1	name
13782580	CV540645	single nucleotide variant	NM_000396.4(CTSK):c.136C>T (p.Arg46Trp)	Pyknodysostosis [RCV000669037]\|not provided [RCV001071413]	pathogenic\|likely pathogenic	1	150806209	150806209	Human	1	name
13787546	CV540674	deletion	NM_000396.4(CTSK):c.669del (p.Tyr224fs)	Pyknodysostosis [RCV000664905]	likely pathogenic	1	150799659	150799659	Human	1	name
13782642	CV540676	single nucleotide variant	NM_000396.4(CTSK):c.263A>C (p.Gln88Pro)	Pyknodysostosis [RCV000669116]\|not provided [RCV005091940]\|not specified [RCV001553728]	uncertain significance	1	150805997	150805997	Human	1	name
126908629	CV969592	deletion	NM_000396.4(CTSK):c.458del (p.Lys153fs)	Pyknodysostosis [RCV001374468]	pathogenic	1	150804181	150804181	Human	1	name
126908635	CV969597	deletion	NM_000396.4(CTSK):c.402del (p.Gln135fs)	Pyknodysostosis [RCV001374474]	pathogenic	1	150804237	150804237	Human	1	name
127272373	CV1058409	single nucleotide variant	NM_000396.4(CTSK):c.419G>A (p.Trp140Ter)	Pyknodysostosis [RCV003469773]\|not provided [RCV001390449]	pathogenic\|likely pathogenic	1	150804220	150804220	Human	1	name
127273035	CV1058411	single nucleotide variant	NM_000396.4(CTSK):c.364C>T (p.Arg122Ter)	Pyknodysostosis [RCV003469777]\|not provided [RCV001390660]	pathogenic\|likely pathogenic	1	150805896	150805896	Human	1	name
127246288	CV1066233	single nucleotide variant	NM_000396.4(CTSK):c.519G>C (p.Glu173Asp)	not provided [RCV001398936]	likely benign	1	150804120	150804120	Human		name
150532118	CV1292266	single nucleotide variant	NM_000396.4(CTSK):c.746T>A (p.Ile249Asn)	Pyknodysostosis [RCV001733850]\|not provided [RCV003738095]	likely pathogenic	1	150799582	150799582	Human	1	name
151759849	CV1340741	single nucleotide variant	NM_000396.4(CTSK):c.796G>T (p.Asp266Tyr)	not provided [RCV001913852]	uncertain significance	1	150799262	150799262	Human		name
151835442	CV1347250	single nucleotide variant	NM_000396.4(CTSK):c.437G>C (p.Gly146Ala)	not provided [RCV002031238]	likely pathogenic	1	150804202	150804202	Human		name
151890737	CV1353758	single nucleotide variant	NM_000396.4(CTSK):c.624G>C (p.Glu208Asp)	Inborn genetic diseases [RCV004612043]\|not provided [RCV001963730]	uncertain significance	1	150799704	150799704	Human	1	name
151715236	CV1392645	single nucleotide variant	NM_000396.4(CTSK):c.505G>A (p.Asp169Asn)	Pyknodysostosis [RCV004770271]\|not provided [RCV001908838]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	150804134	150804134	Human	1	name
151715543	CV1392731	single nucleotide variant	NM_000396.4(CTSK):c.814G>A (p.Asp272Asn)	Pyknodysostosis [RCV002482795]\|not provided [RCV001908894]	uncertain significance	1	150799244	150799244	Human	1	name
151840716	CV1423631	single nucleotide variant	NM_000396.4(CTSK):c.925C>T (p.Leu309Phe)	not provided [RCV001977657]	likely pathogenic	1	150796864	150796864	Human		name
151868386	CV1426014	single nucleotide variant	NM_000396.4(CTSK):c.894G>A (p.Trp298Ter)	Pyknodysostosis [RCV003471120]\|not provided [RCV002035342]	pathogenic\|likely pathogenic	1	150796895	150796895	Human	1	name
151733206	CV1497886	single nucleotide variant	NM_000396.4(CTSK):c.976T>G (p.Phe326Val)	not provided [RCV001946265]	uncertain significance	1	150796813	150796813	Human		name
151726853	CV1498871	single nucleotide variant	NM_000396.4(CTSK):c.527G>C (p.Gly176Ala)	not provided [RCV002040793]	uncertain significance	1	150804112	150804112	Human		name
151730311	CV1505484	single nucleotide variant	NM_000396.4(CTSK):c.383C>T (p.Thr128Ile)	not provided [RCV002021223]	uncertain significance	1	150805877	150805877	Human		name
155736593	CV1782268	single nucleotide variant	NM_000396.4(CTSK):c.658A>T (p.Lys220Ter)	Pyknodysostosis [RCV002310009]\|not provided [RCV003099150]	pathogenic\|likely pathogenic	1	150799670	150799670	Human	1	name
155728677	CV1782514	single nucleotide variant	NM_000396.4(CTSK):c.616C>T (p.Gln206Ter)	Pyknodysostosis [RCV002308046]	likely pathogenic	1	150804023	150804023	Human	1	name
155728708	CV1782524	single nucleotide variant	NM_000396.4(CTSK):c.334G>T (p.Glu112Ter)	Pyknodysostosis [RCV002308056]	likely pathogenic	1	150805926	150805926	Human	1	name
155725245	CV1783534	single nucleotide variant	NM_000396.4(CTSK):c.417T>A (p.Cys139Ter)	Pyknodysostosis [RCV002306978]	likely pathogenic	1	150804222	150804222	Human	1	name
155737044	CV1784200	single nucleotide variant	NM_000396.4(CTSK):c.397C>T (p.Gln133Ter)	Pyknodysostosis [RCV002310357]	likely pathogenic	1	150805863	150805863	Human	1	name
156378747	CV1876738	single nucleotide variant	NM_000396.4(CTSK):c.722G>A (p.Arg241Gln)	not provided [RCV003066975]	uncertain significance	1	150799606	150799606	Human		name
156011911	CV1880529	single nucleotide variant	NM_000396.4(CTSK):c.454C>T (p.Leu152Phe)	not provided [RCV003077139]	uncertain significance	1	150804185	150804185	Human		name
156356496	CV1894963	single nucleotide variant	NM_000396.4(CTSK):c.901A>T (p.Asn301Tyr)	Inborn genetic diseases [RCV004071981]\|not provided [RCV003091395]	uncertain significance	1	150796888	150796888	Human	1	name
156419224	CV1922989	single nucleotide variant	NM_000396.4(CTSK):c.633G>A (p.Met211Ile)	Inborn genetic diseases [RCV003274296]\|Pyknodysostosis [RCV003340640]\|not provided [RCV002612444]	uncertain significance	1	150799695	150799695	Human	2	name
156159105	CV1928487	single nucleotide variant	NM_000396.4(CTSK):c.931G>C (p.Ala311Pro)	Inborn genetic diseases [RCV004978742]\|not provided [RCV002664177]	likely pathogenic\|uncertain significance	1	150796858	150796858	Human	1	name
156311563	CV1928488	single nucleotide variant	NM_000396.4(CTSK):c.908G>A (p.Gly303Glu)	Pyknodysostosis [RCV005239706]\|not provided [RCV002648199]	pathogenic	1	150796881	150796881	Human	1	name
156311583	CV1928490	single nucleotide variant	NM_000396.4(CTSK):c.580G>A (p.Gly194Ser)	not provided [RCV002648200]	pathogenic	1	150804059	150804059	Human		name
156441607	CV1940928	single nucleotide variant	NM_000396.4(CTSK):c.473A>G (p.Lys158Arg)	not provided [RCV003111935]	uncertain significance	1	150804166	150804166	Human		name
156439185	CV1944050	single nucleotide variant	NM_000396.4(CTSK):c.641C>T (p.Pro214Leu)	not provided [RCV003109141]	uncertain significance	1	150799687	150799687	Human		name
156054386	CV2003184	single nucleotide variant	NM_000396.4(CTSK):c.457A>T (p.Lys153Ter)	not provided [RCV002659471]	pathogenic	1	150804182	150804182	Human		name
155997418	CV2045334	single nucleotide variant	NM_000396.4(CTSK):c.689G>T (p.Gly230Val)	not provided [RCV002756032]	uncertain significance	1	150799639	150799639	Human		name
156383530	CV2128230	single nucleotide variant	NM_000396.4(CTSK):c.710G>A (p.Arg237Lys)	not provided [RCV002943323]	uncertain significance	1	150799618	150799618	Human		name
156129872	CV2158710	single nucleotide variant	NM_000396.4(CTSK):c.755G>C (p.Ser252Thr)	not provided [RCV003022135]	uncertain significance	1	150799573	150799573	Human		name
155952220	CV2238922	single nucleotide variant	NM_000396.4(CTSK):c.682C>T (p.Pro228Ser)	Inborn genetic diseases [RCV002753166]	uncertain significance	1	150799646	150799646	Human	1	name
156081996	CV2244361	single nucleotide variant	NM_000396.4(CTSK):c.302G>A (p.Arg101His)	Inborn genetic diseases [RCV002737969]	uncertain significance	1	150805958	150805958	Human	1	name
8560473	CV23459	single nucleotide variant	NM_000396.4(CTSK):c.990A>G (p.Ter330Trp)	Pyknodysostosis [RCV000008931]	pathogenic	1	150796799	150796799	Human	1	name
8560474	CV23460	single nucleotide variant	NM_000396.4(CTSK):c.436G>C (p.Gly146Arg)	Inborn genetic diseases [RCV000623420]\|Pyknodysostosis [RCV000008932]\|not provided [RCV001206530]	pathogenic	1	150804203	150804203	Human	2	name
8560475	CV23461	single nucleotide variant	NM_000396.4(CTSK):c.721C>T (p.Arg241Ter)	Pyknodysostosis [RCV000008933]\|not provided [RCV001036147]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters	1	150799607	150799607	Human	1	name
8560476	CV23462	single nucleotide variant	NM_000396.4(CTSK):c.830C>T (p.Ala277Val)	Pyknodysostosis [RCV000008934]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters	1	150799228	150799228	Human	1	name
8560479	CV23465	single nucleotide variant	NM_000396.4(CTSK):c.926T>C (p.Leu309Pro)	Pyknodysostosis [RCV000008937]\|not provided [RCV001851751]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters	1	150796863	150796863	Human	1	name
329402790	CV2451407	single nucleotide variant	NM_000396.4(CTSK):c.474A>T (p.Lys158Asn)	Inborn genetic diseases [RCV003199708]	uncertain significance	1	150804165	150804165	Human	1	name
401764824	CV2705425	single nucleotide variant	NM_000396.4(CTSK):c.616C>A (p.Gln206Lys)	Inborn genetic diseases [RCV003281999]	uncertain significance	1	150804023	150804023	Human	1	name
11635909	CV270857	single nucleotide variant	NM_000396.4(CTSK):c.541T>C (p.Tyr181His)	not provided [RCV000442545]\|not specified [RCV002298565]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	1	150804098	150804098	Human		name
401767535	CV2727196	single nucleotide variant	NM_000396.4(CTSK):c.970G>A (p.Ala324Thr)	Inborn genetic diseases [RCV003282897]	uncertain significance	1	150796819	150796819	Human	1	name
11651579	CV276390	single nucleotide variant	NM_000396.4(CTSK):c.490C>A (p.Pro164Thr)	Pyknodysostosis [RCV000299950]	uncertain significance	1	150804149	150804149	Human	1	name
11582084	CV277128	single nucleotide variant	NM_000396.4(CTSK):c.812G>A (p.Ser271Asn)	Pyknodysostosis [RCV000397619]\|not provided [RCV002519392]	uncertain significance	1	150799246	150799246	Human	1	name
11582085	CV277235	single nucleotide variant	NM_000396.4(CTSK):c.551A>G (p.Asn184Ser)	Pyknodysostosis [RCV000397621]	uncertain significance	1	150804088	150804088	Human	1	name
402486453	CV2999042	single nucleotide variant	NM_000396.4(CTSK):c.581G>T (p.Gly194Val)	not provided [RCV003687103]	likely pathogenic	1	150804058	150804058	Human		name
405253715	CV3178632	single nucleotide variant	NM_000396.4(CTSK):c.847T>C (p.Tyr283His)	not provided [RCV003871234]	likely pathogenic	1	150799211	150799211	Human		name
405700060	CV3246335	single nucleotide variant	NM_000396.4(CTSK):c.302G>T (p.Arg101Leu)	Inborn genetic diseases [RCV004375071]	uncertain significance	1	150805958	150805958	Human	1	name
407472738	CV3426404	single nucleotide variant	NM_000396.4(CTSK):c.898G>A (p.Glu300Lys)	Inborn genetic diseases [RCV004616012]	uncertain significance	1	150796891	150796891	Human	1	name
407472746	CV3426406	single nucleotide variant	NM_000396.4(CTSK):c.718G>A (p.Ala240Thr)	Inborn genetic diseases [RCV004616014]	uncertain significance	1	150799610	150799610	Human	1	name
596922175	CV3535723	single nucleotide variant	NM_000396.4(CTSK):c.881T>C (p.Ile294Thr)	Pyknodysostosis [RCV004785265]	uncertain significance	1	150799177	150799177	Human	1	name
596942626	CV3544181	single nucleotide variant	NM_000396.4(CTSK):c.755G>A (p.Ser252Asn)	not specified [RCV004800172]	uncertain significance	1	150799573	150799573	Human		name
12738604	CV356980	single nucleotide variant	NM_000396.4(CTSK):c.934C>T (p.Arg312Ter)	Pyknodysostosis [RCV000410122]\|not provided [RCV001232559]	pathogenic\|likely pathogenic	1	150796855	150796855	Human	1	name
12738590	CV356981	single nucleotide variant	NM_000396.4(CTSK):c.934C>G (p.Arg312Gly)	Pyknodysostosis [RCV000409981]	likely pathogenic	1	150796855	150796855	Human	1	name
12738522	CV356984	single nucleotide variant	NM_000396.4(CTSK):c.568C>T (p.Gln190Ter)	Pyknodysostosis [RCV000409218]\|not provided [RCV003558363]	pathogenic\|likely pathogenic	1	150804071	150804071	Human	1	name
597665576	CV3661411	single nucleotide variant	NM_000396.4(CTSK):c.322A>T (p.Ile108Phe)	Inborn genetic diseases [RCV004979342]	uncertain significance	1	150805938	150805938	Human	1	name
597665581	CV3661412	single nucleotide variant	NM_000396.4(CTSK):c.959T>C (p.Ile320Thr)	Inborn genetic diseases [RCV004979343]	uncertain significance	1	150796830	150796830	Human	1	name
597665589	CV3661413	single nucleotide variant	NM_000396.4(CTSK):c.760A>T (p.Thr254Ser)	Inborn genetic diseases [RCV004979344]	uncertain significance	1	150799568	150799568	Human	1	name
597746616	CV3725919	single nucleotide variant	NM_000396.4(CTSK):c.564T>G (p.Tyr188Ter)	Pyknodysostosis [RCV005039651]	likely pathogenic	1	150804075	150804075	Human	1	name
597934566	CV3777072	single nucleotide variant	NM_000396.4(CTSK):c.566T>C (p.Val189Ala)	not provided [RCV005117231]	uncertain significance	1	150804073	150804073	Human		name
597924725	CV3863168	single nucleotide variant	NM_000396.4(CTSK):c.935G>A (p.Arg312Gln)	not provided [RCV005205656]	uncertain significance	1	150796854	150796854	Human		name
598217757	CV3892270	single nucleotide variant	NM_000396.4(CTSK):c.487A>G (p.Ser163Gly)	Pyknodysostosis [RCV005253609]	uncertain significance	1	150804152	150804152	Human	1	name
598216388	CV3895185	single nucleotide variant	NM_000396.4(CTSK):c.670T>C (p.Tyr224His)	Pyknodysostosis [RCV005360096]	uncertain significance	1	150799658	150799658	Human	1	name
598221698	CV3955908	single nucleotide variant	NM_000396.4(CTSK):c.949G>A (p.Ala317Thr)	Inborn genetic diseases [RCV005317744]	uncertain significance	1	150796840	150796840	Human	1	name
598221709	CV3955910	single nucleotide variant	NM_000396.4(CTSK):c.941A>G (p.Lys314Arg)	Inborn genetic diseases [RCV005317746]	uncertain significance	1	150796848	150796848	Human	1	name
13527928	CV513233	single nucleotide variant	NM_000396.4(CTSK):c.578G>A (p.Arg193Gln)	Pyknodysostosis [RCV002499016]\|not provided [RCV002533146]\|not specified [RCV000625814]	likely pathogenic\|uncertain significance	1	150804061	150804061	Human	1	name
13790492	CV540640	single nucleotide variant	NM_000396.4(CTSK):c.876G>A (p.Trp292Ter)	Pyknodysostosis [RCV000666587]\|not provided [RCV002530691]	pathogenic\|likely pathogenic	1	150799182	150799182	Human	1	name
13786575	CV540642	single nucleotide variant	NM_000396.4(CTSK):c.749A>G (p.Asp250Gly)	Pyknodysostosis [RCV000672929]	uncertain significance	1	150799579	150799579	Human	1	name
13787040	CV540644	single nucleotide variant	NM_000396.4(CTSK):c.577C>T (p.Arg193Trp)	Pyknodysostosis [RCV000664611]\|not provided [RCV002530632]	uncertain significance	1	150804062	150804062	Human	1	name
13784554	CV540660	single nucleotide variant	NM_000396.4(CTSK):c.365G>A (p.Arg122Gln)	Pyknodysostosis [RCV000670978]	uncertain significance	1	150805895	150805895	Human	1	name
13782888	CV540678	microsatellite	NM_000396.4(CTSK):c.21GCT[1] (p.Leu9del)	Pyknodysostosis [RCV000669436]	uncertain significance	1	150806780	150806782	Human		name
13832804	CV584028	single nucleotide variant	NM_000396.4(CTSK):c.955G>T (p.Gly319Cys)	not provided [RCV000727870]	uncertain significance	1	150796834	150796834	Human		name
14737149	CV626802	single nucleotide variant	NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr)	Abnormality of the skeletal system [RCV001814239]\|Pyknodysostosis [RCV001830739]\|not provided [RCV000803909]	pathogenic\|likely pathogenic	1	150796836	150796836	Human	2	name
14717930	CV626803	single nucleotide variant	NM_000396.4(CTSK):c.833T>A (p.Val278Asp)	not provided [RCV000795631]	uncertain significance	1	150799225	150799225	Human		name
14742454	CV626804	single nucleotide variant	NM_000396.4(CTSK):c.503T>C (p.Val168Ala)	Pyknodysostosis [RCV001272784]\|not provided [RCV000822803]	uncertain significance	1	150804136	150804136	Human	1	name
21404689	CV672319	single nucleotide variant	NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)	Pyknodysostosis [RCV003467528]\|Skeletal dysplasia [RCV001002750]\|Skeletal dysplasia [RCV001007653]\|not provided [RCV002536163]	pathogenic\|uncertain significance	1	150796884	150796884	Human	20	name
15177466	CV718194	single nucleotide variant	NM_000396.4(CTSK):c.816T>A (p.Asp272Glu)	Pyknodysostosis [RCV001272783]\|not provided [RCV000884829]	likely benign\|uncertain significance	1	150799242	150799242	Human	1	name
21070450	CV789840	single nucleotide variant	NM_000396.4(CTSK):c.826C>T (p.His276Tyr)	Pyknodysostosis [RCV000986407]	likely pathogenic	1	150799232	150799232	Human	1	name
8624681	CV79795	single nucleotide variant	NM_000396.3(CTSK):c.322A>G (p.Ile108Val)	Malignant melanoma [RCV000059871]	not provided	1	150805938	150805938	Human		name
28889299	CV862256	single nucleotide variant	NM_000396.4(CTSK):c.685G>A (p.Glu229Lys)	Pyknodysostosis [RCV001099375]	uncertain significance	1	150799643	150799643	Human	1	name
38485675	CV941441	single nucleotide variant	NM_000396.4(CTSK):c.746T>C (p.Ile249Thr)	Pyknodysostosis [RCV001834056]\|not provided [RCV001236857]	pathogenic\|likely pathogenic	1	150799582	150799582	Human	1	name
42722637	CV965348	single nucleotide variant	NM_000396.4(CTSK):c.547A>C (p.Thr183Pro)	Pyknodysostosis [RCV001290358]	likely pathogenic	1	150804092	150804092	Human	1	name
126908630	CV969593	single nucleotide variant	NM_000396.4(CTSK):c.556T>C (p.Phe186Leu)	Pyknodysostosis [RCV001374469]	likely pathogenic	1	150804083	150804083	Human	1	name
126908632	CV969594	single nucleotide variant	NM_000396.4(CTSK):c.907G>A (p.Gly303Arg)	Pyknodysostosis [RCV001374470]	pathogenic	1	150796882	150796882	Human	1	name
126908633	CV969596	single nucleotide variant	NM_000396.4(CTSK):c.884A>C (p.Lys295Thr)	Pyknodysostosis [RCV001374473]	uncertain significance	1	150799174	150799174	Human	1	name
126908321	CV971563	single nucleotide variant	NM_000396.4(CTSK):c.827A>G (p.His276Arg)	Pyknodysostosis [RCV001374738]	likely pathogenic	1	150799231	150799231	Human	1	name
127258163	CV1058412	deletion	NM_000396.4(CTSK):c.190_200del (p.Ala64fs)	Pyknodysostosis [RCV003469727]\|not provided [RCV001386891]	pathogenic\|likely pathogenic	1	150806145	150806155	Human	1	name
401943984	CV2837289	microsatellite	NM_000396.4(CTSK):c.169_170del (p.Ile57fs)	Pyknodysostosis [RCV003468565]	likely pathogenic	1	150806175	150806176	Human		name
12738517	CV356989	deletion	NM_000396.4(CTSK):c.289_290del (p.Leu97fs)	Pyknodysostosis [RCV000409177]	likely pathogenic	1	150805970	150805971	Human	1	name
597952544	CV3765673	deletion	NM_000396.4(CTSK):c.109_113del (p.Tyr37fs)	not provided [RCV005121317]	pathogenic	1	150806693	150806697	Human		name
13792426	CV540647	microsatellite	NM_000396.4(CTSK):c.114CAA[1] (p.Asn39del)	Pyknodysostosis [RCV000668696]	uncertain significance	1	150806687	150806689	Human		name
127250199	CV1058410	microsatellite	NM_000396.4(CTSK):c.377_378del (p.Tyr126fs)	not provided [RCV001385255]	pathogenic	1	150805882	150805883	Human		name
155735691	CV1783176	microsatellite	NM_000396.4(CTSK):c.696_697del (p.Lys233fs)	Pyknodysostosis [RCV002309333]	likely pathogenic	1	150799631	150799632	Human		name
156159132	CV1928489	microsatellite	NM_000396.4(CTSK):c.737_738del (p.Ser246fs)	Pyknodysostosis [RCV003465997]\|not provided [RCV002664178]	pathogenic	1	150799590	150799591	Human		name
401943980	CV2837288	deletion	NM_000396.4(CTSK):c.724_731del (p.Val242fs)	Pyknodysostosis [RCV003468564]	likely pathogenic	1	150799597	150799604	Human	1	name
401943992	CV2837292	deletion	NM_000396.4(CTSK):c.947_948del (p.Asn316fs)	Pyknodysostosis [RCV003468568]	likely pathogenic	1	150796841	150796842	Human	1	name
12740322	CV356985	deletion	NM_000396.4(CTSK):c.423_450del (p.Phe142fs)	Pyknodysostosis [RCV000411707]	likely pathogenic	1	150804189	150804216	Human	1	name
26918256	CV822700	deletion	NM_000396.4(CTSK):c.103_105del (p.Lys35del)	not provided [RCV001043309]	uncertain significance	1	150806701	150806703	Human		name
38490988	CV921627	duplication	NM_000396.4(CTSK):c.301_386dup (p.Val130fs)	not provided [RCV001222509]	pathogenic	1	150805873	150805874	Human		name
126910217	CV969595	microsatellite	NM_000396.4(CTSK):c.431_432del (p.Ser144fs)	Pyknodysostosis [RCV001374472]	pathogenic	1	150804207	150804208	Human		name
127301324	CV1153248	inversion	NM_000396.4(CTSK):c.830_831inv (p.Ala277Val)	not provided [RCV001514604]	benign	1	150799227	150799228	Human		name
156434404	CV2402868	deletion	NM_000396.4(CTSK):c.637_639del (p.Asn213del)	Pyknodysostosis [RCV003126306]	uncertain significance	1	150799689	150799691	Human	1	name
12738524	CV356982	insertion	NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs)	Pyknodysostosis [RCV000409237]\|not provided [RCV003766126]	pathogenic\|likely pathogenic	1	150799648	150799649	Human	1	name
13789600	CV540646	indel	NM_000396.4(CTSK):c.576_577delinsG (p.Asn192fs)	Pyknodysostosis [RCV000666069]	likely pathogenic	1	150804062	150804063	Human		name
127262952	CV1058406	deletion	NM_000396.4(CTSK):c.609del (p.Pro202_Tyr203insTer)	not provided [RCV001387847]	pathogenic	1	150804030	150804030	Human		name
597747372	CV3722702	indel	NM_000396.4(CTSK):c.343delinsACCTTGAC (p.Ala115fs)	Pyknodysostosis [RCV005039823]	likely pathogenic	1	150805917	150805917	Human		name
155728301	CV1782366	insertion	NM_000396.4(CTSK):c.475_476insAGCCATCATTG (p.Leu159fs)	Pyknodysostosis [RCV002307898]	likely pathogenic	1	150804163	150804164	Human	1	name
155736776	CV1783989	indel	NM_000396.4(CTSK):c.712delinsTCAGGCTTGCAT (p.Ala238fs)	Pyknodysostosis [RCV002310146]	likely pathogenic	1	150799616	150799616	Human		name
401943986	CV2837290	microsatellite	NM_000396.4(CTSK):c.590_591del (p.Asp196_Ser197insTer)	Pyknodysostosis [RCV003468566]	likely pathogenic	1	150804048	150804049	Human		name
597746806	CV3725975	microsatellite	NM_000396.4(CTSK):c.513_514del (p.Val171_Ser172insTer)	Pyknodysostosis [RCV005039688]	likely pathogenic	1	150804125	150804126	Human		name
156315794	CV2028032	insertion	NM_000396.4(CTSK):c.862_863insTGG (p.Lys287_Gly288insVal)	not provided [RCV002716791]	uncertain significance	1	150799195	150799196	Human		name

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