Ckap2l Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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219 records found for search term Ckap2l

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150461902	CV1214570	single nucleotide variant	NM_152515.5(CKAP2L):c.*269T>A	not provided [RCV001613563]	benign	2	112738554	112738554	Human		name
405236691	CV3166451	single nucleotide variant	NM_152515.5(CKAP2L):c.38-7G>A	not provided [RCV003853900]	likely benign	2	112762576	112762576	Human		name
405085134	CV3137638	single nucleotide variant	NM_152515.5(CKAP2L):c.38-12C>A	not provided [RCV003834347]	likely benign	2	112762581	112762581	Human		name
150476424	CV1271333	deletion	NM_152515.5(CKAP2L):c.157-93del	not provided [RCV001696156]	benign	2	112757307	112757307	Human		name
405251378	CV3049646	single nucleotide variant	NM_152515.5(CKAP2L):c.2013-7C>A	CKAP2L-related disorder [RCV003909097]\|not provided [RCV003721802]	benign\|likely benign	2	112739055	112739055	Human	1	name , trait , alternate_id
402486488	CV3181810	single nucleotide variant	NM_152515.5(CKAP2L):c.1823-8A>C	not provided [RCV003876478]	likely benign	2	112741015	112741015	Human		name
13521420	CV495110	single nucleotide variant	NM_152515.5(CKAP2L):c.1394+3A>G	not provided [RCV000599439]	uncertain significance	2	112755974	112755974	Human		name
40886434	CV972780	single nucleotide variant	NM_152515.5(CKAP2L):c.1822+1G>A	Filippi syndrome [RCV001264831]	pathogenic	2	112742705	112742705	Human	1	name
150502515	CV1212252	deletion	NM_152515.5(CKAP2L):c.157-172del	not provided [RCV001595125]	benign	2	112757386	112757386	Human		name
150513258	CV1228948	single nucleotide variant	NM_152515.5(CKAP2L):c.1823-46A>G	not provided [RCV001637790]	benign	2	112741053	112741053	Human		name
150477826	CV1252074	single nucleotide variant	NM_152515.5(CKAP2L):c.1394+50T>C	not provided [RCV001672274]	benign	2	112755927	112755927	Human		name
150476509	CV1263653	duplication	NM_152515.5(CKAP2L):c.157-193dup	not provided [RCV001685176]	benign	2	112757385	112757386	Human		name
150468020	CV1269328	single nucleotide variant	NM_152515.5(CKAP2L):c.2012+58G>A	not provided [RCV001694736]	benign	2	112740760	112740760	Human		name
152105570	CV1572561	single nucleotide variant	NM_152515.5(CKAP2L):c.1603-20G>A	not provided [RCV002152353]	likely benign	2	112746595	112746595	Human		name
152099603	CV1578615	single nucleotide variant	NM_152515.5(CKAP2L):c.1602+16A>G	not provided [RCV002151647]	likely benign	2	112752251	112752251	Human		name
152066452	CV1620191	single nucleotide variant	NM_152515.5(CKAP2L):c.1758+18G>T	not provided [RCV002209411]	likely benign	2	112746402	112746402	Human		name
156121106	CV2147160	single nucleotide variant	NM_152515.5(CKAP2L):c.1603-18T>C	not provided [RCV003021800]	likely benign	2	112746593	112746593	Human		name
405114977	CV3115511	single nucleotide variant	NM_152515.5(CKAP2L):c.2012+12C>T	not provided [RCV003814193]	likely benign	2	112740806	112740806	Human		name
150337413	CV1170791	single nucleotide variant	NM_152515.5(CKAP2L):c.2013-329A>T	not provided [RCV001541630]	benign	2	112739377	112739377	Human		name
150516011	CV1216408	single nucleotide variant	NM_152515.5(CKAP2L):c.1759-259T>C	not provided [RCV001608599]	benign	2	112743028	112743028	Human		name
150440205	CV1233352	single nucleotide variant	NM_152515.5(CKAP2L):c.1823-170C>T	not provided [RCV001645040]	benign	2	112741177	112741177	Human		name
150510181	CV1248551	single nucleotide variant	NM_152515.5(CKAP2L):c.1758+319T>C	not provided [RCV001659620]	benign	2	112746101	112746101	Human		name
150450112	CV1260915	single nucleotide variant	NM_152515.5(CKAP2L):c.1395-182G>A	not provided [RCV001680584]	benign	2	112752656	112752656	Human		name
150467995	CV1277667	single nucleotide variant	NM_152515.5(CKAP2L):c.1759-224C>A	not provided [RCV001710962]	benign	2	112742993	112742993	Human		name
150443450	CV1277860	single nucleotide variant	NM_152515.5(CKAP2L):c.1758+167G>A	not provided [RCV001707003]	benign	2	112746253	112746253	Human		name
405278120	CV3192986	microsatellite	NM_152515.5(CKAP2L):c.1759-14TTCC[4]	CKAP2L-related disorder [RCV003964659]	likely benign	2	112742771	112742772	Human		name , trait , alternate_id
150335936	CV1170792	duplication	NM_152515.5(CKAP2L):c.38-232_38-231dup	not provided [RCV001540768]	benign	2	112762785	112762786	Human		name
153304948	CV1687395	single nucleotide variant	NM_152515.5(CKAP2L):c.84A>G (p.Lys28=)	not provided [RCV002263213]	likely benign	2	112762523	112762523	Human		name
9691272	CV172088	single nucleotide variant	NM_152515.5(CKAP2L):c.2T>C (p.Met1Thr)	Filippi syndrome [RCV000149780]	pathogenic\|not provided	2	112764597	112764597	Human	1	name
151770333	CV1460468	single nucleotide variant	NM_152515.5(CKAP2L):c.19A>G (p.Thr7Ala)	not provided [RCV001864015]	uncertain significance	2	112764580	112764580	Human		name
151817445	CV1511484	single nucleotide variant	NM_152515.5(CKAP2L):c.183C>T (p.Thr61=)	CKAP2L-related disorder [RCV003941227]\|not provided [RCV001954419]	likely benign	2	112757188	112757188	Human	1	name , trait , alternate_id
152061508	CV1540793	single nucleotide variant	NM_152515.5(CKAP2L):c.285A>G (p.Pro95=)	not provided [RCV002110170]	likely benign	2	112757086	112757086	Human		name
9687277	CV172091	deletion	NM_001304361.2(CKAP2L):c.-280-59_-11del	Filippi syndrome [RCV000149783]	pathogenic\|not provided	2	112756886	112757214	Human	1	name
402520150	CV2870975	single nucleotide variant	NM_152515.5(CKAP2L):c.10C>T (p.Pro4Ser)	not provided [RCV003547628]	uncertain significance	2	112764589	112764589	Human		name
402468026	CV2921126	single nucleotide variant	NM_152515.5(CKAP2L):c.273G>A (p.Pro91=)	not provided [RCV003569807]	likely benign	2	112757098	112757098	Human		name
597646952	CV3650446	single nucleotide variant	NM_152515.5(CKAP2L):c.13G>A (p.Gly5Arg)	Inborn genetic diseases [RCV004973905]	uncertain significance	2	112764586	112764586	Human	1	name
15181859	CV719194	single nucleotide variant	NM_152515.5(CKAP2L):c.255T>C (p.Thr85=)	not provided [RCV000885860]	likely benign	2	112757116	112757116	Human		name
15149610	CV732718	single nucleotide variant	NM_152515.5(CKAP2L):c.222C>T (p.Ile74=)	not provided [RCV000900970]	benign\|likely benign	2	112757149	112757149	Human		name
150431797	CV1236535	deletion	NM_152515.5(CKAP2L):c.157-173_157-172del	not provided [RCV001641939]	benign	2	112757386	112757387	Human		name
150460419	CV1264172	single nucleotide variant	NM_152515.5(CKAP2L):c.768A>G (p.Val256=)	not provided [RCV001682088]	benign	2	112756603	112756603	Human		name
150496480	CV1271535	single nucleotide variant	NM_152515.5(CKAP2L):c.55C>T (p.Leu19Phe)	CKAP2L-related disorder [RCV003976005]\|not provided [RCV001688835]	benign	2	112762552	112762552	Human	2	name , trait , alternate_id
152112780	CV1520261	single nucleotide variant	NM_152515.5(CKAP2L):c.339C>T (p.Tyr113=)	not provided [RCV002153275]	likely benign	2	112757032	112757032	Human		name
152128618	CV1583776	single nucleotide variant	NM_152515.5(CKAP2L):c.630G>A (p.Lys210=)	not provided [RCV002199021]	likely benign	2	112756741	112756741	Human		name
152062022	CV1611370	single nucleotide variant	NM_152515.5(CKAP2L):c.831G>A (p.Thr277=)	not provided [RCV002146887]	likely benign	2	112756540	112756540	Human		name
152105239	CV1614642	single nucleotide variant	NM_152515.5(CKAP2L):c.537T>C (p.Phe179=)	CKAP2L-related disorder [RCV003958815]\|not provided [RCV002079517]	benign\|likely benign	2	112756834	112756834	Human	1	name , trait , alternate_id
156254046	CV1960638	single nucleotide variant	NM_152515.5(CKAP2L):c.960A>G (p.Ser320=)	not provided [RCV002576633]	likely benign	2	112756411	112756411	Human		name
155925206	CV2211766	single nucleotide variant	NM_152515.5(CKAP2L):c.83A>G (p.Lys28Arg)	Inborn genetic diseases [RCV002683409]	uncertain significance	2	112762524	112762524	Human	1	name
155987316	CV2363806	single nucleotide variant	NM_152515.5(CKAP2L):c.62A>T (p.Glu21Val)	Inborn genetic diseases [RCV002688903]	uncertain significance	2	112762545	112762545	Human	1	name
329351974	CV2455554	single nucleotide variant	NM_152515.5(CKAP2L):c.82A>G (p.Lys28Glu)	Inborn genetic diseases [RCV003200178]	uncertain significance	2	112762525	112762525	Human	1	name
329352035	CV2455646	single nucleotide variant	NM_152515.5(CKAP2L):c.28G>A (p.Ala10Thr)	Inborn genetic diseases [RCV003200222]	uncertain significance	2	112764571	112764571	Human	1	name
401875891	CV2777573	single nucleotide variant	NM_152515.5(CKAP2L):c.86T>C (p.Leu29Pro)	Inborn genetic diseases [RCV003347860]	uncertain significance	2	112762521	112762521	Human	1	name
401916807	CV2812252	single nucleotide variant	NM_152515.5(CKAP2L):c.375A>G (p.Glu125=)	not provided [RCV003429246]	likely benign	2	112756996	112756996	Human		name
407509029	CV3496428	insertion	NM_152515.5(CKAP2L):c.2_3insA (p.Met1fs)	not provided [RCV004698269]	likely pathogenic	2	112764596	112764597	Human		name
408367330	CV3510489	single nucleotide variant	NM_152515.5(CKAP2L):c.40G>T (p.Glu14Ter)	CKAP2L-related disorder [RCV004758380]	likely pathogenic	2	112762567	112762567	Human		name , trait , alternate_id
408367525	CV3517612	single nucleotide variant	NM_152515.5(CKAP2L):c.420G>T (p.Gly140=)	CKAP2L-related disorder [RCV004758577]	likely benign	2	112756951	112756951	Human		name , trait , alternate_id
596946738	CV3548568	single nucleotide variant	NM_152515.5(CKAP2L):c.396A>G (p.Gly132=)	not provided [RCV004810395]	likely benign	2	112756975	112756975	Human		name
597915757	CV3814634	single nucleotide variant	NM_152515.5(CKAP2L):c.930T>C (p.Tyr310=)	not provided [RCV005154949]	likely benign	2	112756441	112756441	Human		name
598121822	CV3883445	single nucleotide variant	NM_152515.5(CKAP2L):c.46C>T (p.Gln16Ter)	Filippi syndrome [RCV005235822]	pathogenic	2	112762561	112762561	Human	1	name
12900263	CV405284	single nucleotide variant	NM_152515.5(CKAP2L):c.77A>G (p.Lys26Arg)	not provided [RCV000482012]	conflicting interpretations of pathogenicity\|uncertain significance	2	112762530	112762530	Human		name
15152305	CV746739	single nucleotide variant	NM_152515.5(CKAP2L):c.777G>A (p.Gln259=)	not provided [RCV000923846]	likely benign	2	112756594	112756594	Human		name
15115377	CV746740	single nucleotide variant	NM_152515.5(CKAP2L):c.384G>A (p.Ser128=)	CKAP2L-related disorder [RCV003958394]\|not provided [RCV000917444]	likely benign	2	112756987	112756987	Human	1	name , trait , alternate_id
126744373	CV1019448	single nucleotide variant	NM_152515.5(CKAP2L):c.199C>A (p.Pro67Thr)	Filippi syndrome [RCV001337014]	uncertain significance	2	112757172	112757172	Human	1	name
150514277	CV1210950	single nucleotide variant	NM_152515.5(CKAP2L):c.185A>G (p.Asn62Ser)	not provided [RCV001598993]	benign	2	112757186	112757186	Human		name
150451711	CV1260293	single nucleotide variant	NM_152515.5(CKAP2L):c.1446T>C (p.Pro482=)	not provided [RCV001680783]	benign	2	112752423	112752423	Human		name
150536908	CV1314360	deletion	NM_152515.5(CKAP2L):c.501del (p.Asn167fs)	Filippi syndrome [RCV001780787]	pathogenic\|likely pathogenic	2	112756870	112756870	Human	1	name
151778864	CV1472282	single nucleotide variant	NM_152515.5(CKAP2L):c.270G>C (p.Lys90Asn)	not provided [RCV002026067]	uncertain significance	2	112757101	112757101	Human		name
152080872	CV1546625	single nucleotide variant	NM_152515.5(CKAP2L):c.1134G>A (p.Arg378=)	not provided [RCV002130799]	benign	2	112756237	112756237	Human		name
152045098	CV1548257	single nucleotide variant	NM_152515.5(CKAP2L):c.1785T>C (p.Val595=)	not provided [RCV002076416]	likely benign	2	112742743	112742743	Human		name
152054100	CV1630225	single nucleotide variant	NM_152515.5(CKAP2L):c.1854T>C (p.Thr618=)	not provided [RCV002154823]	likely benign	2	112740976	112740976	Human		name
9691271	CV172087	duplication	NM_152515.5(CKAP2L):c.571dup (p.Ile191fs)	Filippi syndrome [RCV000149779]	pathogenic\|not provided	2	112756799	112756800	Human	1	name
9691274	CV172090	deletion	NM_152515.5(CKAP2L):c.751del (p.Ser251fs)	Filippi syndrome [RCV000149782]	pathogenic\|not provided	2	112756620	112756620	Human	1	name
156416549	CV1901437	single nucleotide variant	NM_152515.5(CKAP2L):c.262T>C (p.Ser88Pro)	not provided [RCV002610232]	uncertain significance	2	112757109	112757109	Human		name
156263052	CV1902815	single nucleotide variant	NM_152515.5(CKAP2L):c.2070G>A (p.Ser690=)	not provided [RCV003086510]	likely benign	2	112738991	112738991	Human		name
156221861	CV2173310	single nucleotide variant	NM_152515.5(CKAP2L):c.101C>T (p.Thr34Ile)	not provided [RCV003025226]	uncertain significance	2	112762506	112762506	Human		name
156317609	CV2204014	single nucleotide variant	NM_152515.5(CKAP2L):c.121A>G (p.Lys41Glu)	Inborn genetic diseases [RCV002648823]	uncertain significance	2	112760748	112760748	Human	1	name
156144208	CV2268850	single nucleotide variant	NM_152515.5(CKAP2L):c.122A>G (p.Lys41Arg)	Inborn genetic diseases [RCV002826389]	uncertain significance	2	112760747	112760747	Human	1	name
156260494	CV2277922	single nucleotide variant	NM_152515.5(CKAP2L):c.256G>T (p.Ala86Ser)	Inborn genetic diseases [RCV002855390]	uncertain significance	2	112757115	112757115	Human	1	name
156227501	CV2352836	single nucleotide variant	NM_152515.5(CKAP2L):c.178G>A (p.Val60Ile)	Inborn genetic diseases [RCV002986543]	uncertain significance	2	112757193	112757193	Human	1	name
401904936	CV2812251	single nucleotide variant	NM_152515.5(CKAP2L):c.1839T>C (p.Ser613=)	not provided [RCV003436119]	likely benign	2	112740991	112740991	Human		name
405210205	CV3117628	single nucleotide variant	NM_152515.5(CKAP2L):c.1335C>T (p.Thr445=)	not provided [RCV003823227]	likely benign	2	112756036	112756036	Human		name
405260041	CV3186530	single nucleotide variant	NM_152515.5(CKAP2L):c.1005A>C (p.Thr335=)	not provided [RCV003884289]	likely benign	2	112756366	112756366	Human		name
405696680	CV3226760	single nucleotide variant	NM_152515.5(CKAP2L):c.2091G>A (p.Val697=)	not provided [RCV003993153]	likely benign	2	112738970	112738970	Human		name
405684171	CV3304515	single nucleotide variant	NM_152515.5(CKAP2L):c.239C>T (p.Pro80Leu)	Inborn genetic diseases [RCV004444049]	uncertain significance	2	112757132	112757132	Human	1	name
597663576	CV3705999	single nucleotide variant	NM_152515.5(CKAP2L):c.100A>C (p.Thr34Pro)	Filippi syndrome [RCV005028780]	uncertain significance	2	112762507	112762507	Human	1	name
597845547	CV3827842	single nucleotide variant	NM_152515.5(CKAP2L):c.1047A>G (p.Pro349=)	not provided [RCV005172916]	likely benign	2	112756324	112756324	Human		name
597942028	CV3837222	single nucleotide variant	NM_152515.5(CKAP2L):c.181A>G (p.Thr61Ala)	not provided [RCV005188053]	uncertain significance	2	112757190	112757190	Human		name
598231767	CV3948243	single nucleotide variant	NM_152515.5(CKAP2L):c.186C>G (p.Asn62Lys)	Inborn genetic diseases [RCV005319618]	uncertain significance	2	112757185	112757185	Human	1	name
598231778	CV3948246	single nucleotide variant	NM_152515.5(CKAP2L):c.221T>C (p.Ile74Thr)	Inborn genetic diseases [RCV005319621]	likely benign	2	112757150	112757150	Human	1	name
15193172	CV696977	single nucleotide variant	NM_152515.5(CKAP2L):c.162T>G (p.Ile54Met)	Filippi syndrome [RCV001331778]\|not provided [RCV000955294]	likely benign\|uncertain significance	2	112757209	112757209	Human	1	name
15104948	CV719191	single nucleotide variant	NM_152515.5(CKAP2L):c.2058T>C (p.Pro686=)	not provided [RCV000892985]	benign	2	112739003	112739003	Human		name
15155954	CV719192	single nucleotide variant	NM_152515.5(CKAP2L):c.1401A>G (p.Gln467=)	not provided [RCV000880524]	likely benign	2	112752468	112752468	Human		name
15168318	CV719193	single nucleotide variant	NM_152515.5(CKAP2L):c.259G>C (p.Gly87Arg)	Inborn genetic diseases [RCV004973136]\|not provided [RCV000883039]	likely benign	2	112757112	112757112	Human	1	name
15196115	CV746737	single nucleotide variant	NM_152515.5(CKAP2L):c.1941G>A (p.Ala647=)	not provided [RCV000911606]	likely benign	2	112740889	112740889	Human		name
15117854	CV746738	single nucleotide variant	NM_152515.5(CKAP2L):c.1585C>T (p.Leu529=)	not provided [RCV000917871]	likely benign	2	112752284	112752284	Human		name
15133006	CV762159	single nucleotide variant	NM_152515.5(CKAP2L):c.1665T>C (p.Ala555=)	not provided [RCV000942495]	likely benign	2	112746513	112746513	Human		name
150336225	CV1164873	single nucleotide variant	NM_152515.5(CKAP2L):c.789A>T (p.Arg263Ser)	not provided [RCV001530747]	benign	2	112756582	112756582	Human		name
150552196	CV1302277	single nucleotide variant	NM_152515.5(CKAP2L):c.907A>G (p.Ile303Val)	not provided [RCV001767541]	uncertain significance	2	112756464	112756464	Human		name
151771449	CV1360719	single nucleotide variant	NM_152515.5(CKAP2L):c.601C>G (p.Pro201Ala)	not provided [RCV001864113]	uncertain significance	2	112756770	112756770	Human		name
156317493	CV1901331	single nucleotide variant	NM_152515.5(CKAP2L):c.850C>T (p.Arg284Trp)	Inborn genetic diseases [RCV005323351]\|not provided [RCV002579036]	uncertain significance	2	112756521	112756521	Human	1	name
156112418	CV1993683	single nucleotide variant	NM_152515.5(CKAP2L):c.356A>G (p.Lys119Arg)	not provided [RCV002662541]	uncertain significance	2	112757015	112757015	Human		name
156324650	CV2198817	single nucleotide variant	NM_152515.5(CKAP2L):c.578C>A (p.Thr193Lys)	Inborn genetic diseases [RCV002672569]	uncertain significance	2	112756793	112756793	Human	1	name
156367341	CV2203502	single nucleotide variant	NM_152515.5(CKAP2L):c.823T>G (p.Ser275Ala)	Inborn genetic diseases [RCV002652238]	uncertain significance	2	112756548	112756548	Human	1	name
156040111	CV2219441	single nucleotide variant	NM_152515.5(CKAP2L):c.704C>G (p.Ala235Gly)	Inborn genetic diseases [RCV002692200]	uncertain significance	2	112756667	112756667	Human	1	name
155999793	CV2287311	single nucleotide variant	NM_152515.5(CKAP2L):c.564G>C (p.Leu188Phe)	Inborn genetic diseases [RCV002865250]	uncertain significance	2	112756807	112756807	Human	1	name
156160617	CV2311682	single nucleotide variant	NM_152515.5(CKAP2L):c.955C>T (p.Arg319Trp)	Inborn genetic diseases [RCV002915966]	uncertain significance	2	112756416	112756416	Human	1	name
156005936	CV2401142	single nucleotide variant	NM_152515.5(CKAP2L):c.498G>T (p.Met166Ile)	Inborn genetic diseases [RCV002779798]	uncertain significance	2	112756873	112756873	Human	1	name
401730529	CV2677213	single nucleotide variant	NM_152515.5(CKAP2L):c.847A>C (p.Ile283Leu)	Inborn genetic diseases [RCV003248296]\|not provided [RCV003561267]	uncertain significance	2	112756524	112756524	Human	1	name
401890823	CV2778373	single nucleotide variant	NM_152515.5(CKAP2L):c.916A>T (p.Asn306Tyr)	Inborn genetic diseases [RCV003354595]	uncertain significance	2	112756455	112756455	Human	1	name
405267562	CV3219395	single nucleotide variant	NM_152515.5(CKAP2L):c.637T>C (p.Ser213Pro)	CKAP2L-related disorder [RCV003969636]	likely benign	2	112756734	112756734	Human		name , trait , alternate_id
405684180	CV3304517	single nucleotide variant	NM_152515.5(CKAP2L):c.333C>G (p.Asn111Lys)	Inborn genetic diseases [RCV004444051]	uncertain significance	2	112757038	112757038	Human	1	name
405684186	CV3304518	single nucleotide variant	NM_152515.5(CKAP2L):c.632C>G (p.Thr211Ser)	Inborn genetic diseases [RCV004444052]	uncertain significance	2	112756739	112756739	Human	1	name
405684191	CV3304519	single nucleotide variant	NM_152515.5(CKAP2L):c.836C>G (p.Pro279Arg)	Inborn genetic diseases [RCV004444053]	uncertain significance	2	112756535	112756535	Human	1	name
405854745	CV3394860	single nucleotide variant	NM_152515.5(CKAP2L):c.793G>A (p.Ala265Thr)	not provided [RCV004555001]	uncertain significance	2	112756578	112756578	Human		name
407462018	CV3419225	single nucleotide variant	NM_152515.5(CKAP2L):c.697A>G (p.Asn233Asp)	Inborn genetic diseases [RCV004612760]	uncertain significance	2	112756674	112756674	Human	1	name
407462022	CV3419227	single nucleotide variant	NM_152515.5(CKAP2L):c.721G>T (p.Val241Phe)	Inborn genetic diseases [RCV004612762]	uncertain significance	2	112756650	112756650	Human	1	name
408367399	CV3512667	single nucleotide variant	NM_152515.5(CKAP2L):c.956G>A (p.Arg319Gln)	CKAP2L-related disorder [RCV004758477]	uncertain significance	2	112756415	112756415	Human		name , trait , alternate_id
597646931	CV3650437	single nucleotide variant	NM_152515.5(CKAP2L):c.835C>G (p.Pro279Ala)	Inborn genetic diseases [RCV004973900]	uncertain significance	2	112756536	112756536	Human	1	name
597631886	CV3650444	single nucleotide variant	NM_152515.5(CKAP2L):c.785C>G (p.Ser262Cys)	Inborn genetic diseases [RCV004967863]	uncertain significance	2	112756586	112756586	Human	1	name
597646955	CV3650447	single nucleotide variant	NM_152515.5(CKAP2L):c.821C>G (p.Pro274Arg)	Inborn genetic diseases [RCV004973906]	uncertain significance	2	112756550	112756550	Human	1	name
597631889	CV3650451	single nucleotide variant	NM_152515.5(CKAP2L):c.756G>C (p.Arg252Ser)	Inborn genetic diseases [RCV004967864]	uncertain significance	2	112756615	112756615	Human	1	name
598231764	CV3948242	single nucleotide variant	NM_152515.5(CKAP2L):c.663A>T (p.Leu221Phe)	Inborn genetic diseases [RCV005319617]	uncertain significance	2	112756708	112756708	Human	1	name
598231782	CV3948247	single nucleotide variant	NM_152515.5(CKAP2L):c.298G>C (p.Gly100Arg)	Inborn genetic diseases [RCV005319622]	uncertain significance	2	112757073	112757073	Human	1	name
598231789	CV3948249	single nucleotide variant	NM_152515.5(CKAP2L):c.982G>A (p.Val328Met)	Inborn genetic diseases [RCV005319624]	likely benign	2	112756389	112756389	Human	1	name
13522075	CV490335	single nucleotide variant	NM_152515.5(CKAP2L):c.616A>G (p.Arg206Gly)	Inborn genetic diseases [RCV004024754]\|not provided [RCV000591276]	uncertain significance	2	112756755	112756755	Human	1	name
15121234	CV707673	single nucleotide variant	NM_152515.5(CKAP2L):c.922A>G (p.Ser308Gly)	CKAP2L-related disorder [RCV003935963]\|not provided [RCV000962855]	benign\|likely benign	2	112756449	112756449	Human	1	name , trait , alternate_id
15107163	CV707674	single nucleotide variant	NM_152515.5(CKAP2L):c.385T>C (p.Ser129Pro)	CKAP2L-related disorder [RCV004758109]\|not provided [RCV000960233]	benign\|likely benign	2	112756986	112756986	Human	1	name , trait , alternate_id
15152335	CV732717	single nucleotide variant	NM_152515.5(CKAP2L):c.401T>G (p.Leu134Arg)	CKAP2L-related disorder [RCV003922977]\|not provided [RCV000901545]	likely benign	2	112756970	112756970	Human	1	name , trait , alternate_id
25318342	CV805231	duplication	NM_152515.5(CKAP2L):c.1634dup (p.Leu545fs)	not provided [RCV001008557]	likely pathogenic	2	112746543	112746544	Human		name
8629792	CV84939	single nucleotide variant	NM_152515.4(CKAP2L):c.772T>C (p.Ser258Pro)	Malignant melanoma [RCV000065021]	not provided	2	112756599	112756599	Human		name
126726095	CV1015820	single nucleotide variant	NM_152515.5(CKAP2L):c.1385A>T (p.Glu462Val)	Filippi syndrome [RCV001331777]\|Inborn genetic diseases [RCV002546508]	uncertain significance	2	112755986	112755986	Human	2	name
126770509	CV1023672	single nucleotide variant	NM_152515.5(CKAP2L):c.2066G>A (p.Arg689His)	Filippi syndrome [RCV001730757]\|not provided [RCV001344516]	pathogenic\|uncertain significance	2	112738995	112738995	Human	1	name
150413900	CV1199732	single nucleotide variant	NM_152515.5(CKAP2L):c.1841T>C (p.Leu614Ser)	Filippi syndrome [RCV001579023]\|not provided [RCV001658299]	benign	2	112740989	112740989	Human	1	name
150413903	CV1199733	single nucleotide variant	NM_152515.5(CKAP2L):c.1123A>G (p.Ile375Val)	Filippi syndrome [RCV001579024]\|not provided [RCV002070399]	benign	2	112756248	112756248	Human	1	name
150552171	CV1302249	single nucleotide variant	NM_152515.5(CKAP2L):c.1333A>G (p.Thr445Ala)	not provided [RCV001767513]	uncertain significance	2	112756038	112756038	Human		name
150552198	CV1302279	single nucleotide variant	NM_152515.5(CKAP2L):c.2173T>A (p.Cys725Ser)	not provided [RCV001767543]	uncertain significance	2	112738888	112738888	Human		name
151734817	CV1354624	single nucleotide variant	NM_152515.5(CKAP2L):c.1567A>G (p.Asn523Asp)	not provided [RCV001892630]	uncertain significance	2	112752302	112752302	Human		name
151874232	CV1380480	single nucleotide variant	NM_152515.5(CKAP2L):c.1712T>C (p.Phe571Ser)	not provided [RCV001998734]	uncertain significance	2	112746466	112746466	Human		name
151891792	CV1394514	single nucleotide variant	NM_152515.5(CKAP2L):c.1438A>G (p.Lys480Glu)	Inborn genetic diseases [RCV003264125]\|not provided [RCV002039242]	uncertain significance	2	112752431	112752431	Human	1	name
151847037	CV1409385	single nucleotide variant	NM_152515.5(CKAP2L):c.1040G>A (p.Arg347Lys)	Filippi syndrome [RCV002272520]\|not provided [RCV001882087]	uncertain significance	2	112756331	112756331	Human	1	name
151884974	CV1429005	single nucleotide variant	NM_152515.5(CKAP2L):c.2111T>C (p.Leu704Pro)	not provided [RCV002000385]	uncertain significance	2	112738950	112738950	Human		name
151720649	CV1443344	single nucleotide variant	NM_152515.5(CKAP2L):c.1913C>T (p.Ser638Phe)	not provided [RCV002037247]	uncertain significance	2	112740917	112740917	Human		name
151805703	CV1453316	single nucleotide variant	NM_152515.5(CKAP2L):c.1288C>A (p.His430Asn)	not provided [RCV001877779]	uncertain significance	2	112756083	112756083	Human		name
151778569	CV1472237	single nucleotide variant	NM_152515.5(CKAP2L):c.1291T>G (p.Phe431Val)	not provided [RCV002026041]	uncertain significance	2	112756080	112756080	Human		name
151752359	CV1479796	single nucleotide variant	NM_152515.5(CKAP2L):c.2063G>A (p.Arg688Gln)	Inborn genetic diseases [RCV003167086]\|not provided [RCV001927646]	uncertain significance	2	112738998	112738998	Human	1	name
151787076	CV1496239	single nucleotide variant	NM_152515.5(CKAP2L):c.2008C>T (p.Pro670Ser)	Inborn genetic diseases [RCV003164279]\|not provided [RCV001895280]	uncertain significance	2	112740822	112740822	Human	1	name
152120790	CV1662064	single nucleotide variant	NM_152515.5(CKAP2L):c.2118A>T (p.Glu706Asp)	not provided [RCV002117824]	benign	2	112738943	112738943	Human		name
156405610	CV1913176	single nucleotide variant	NM_152515.5(CKAP2L):c.1262A>G (p.Lys421Arg)	Inborn genetic diseases [RCV004614369]\|not provided [RCV002606371]	uncertain significance	2	112756109	112756109	Human	1	name
156356484	CV1917615	single nucleotide variant	NM_152515.5(CKAP2L):c.1186A>G (p.Ile396Val)	Filippi syndrome [RCV004725546]\|not provided [RCV002632373]	likely benign\|uncertain significance	2	112756185	112756185	Human	1	name
156059497	CV1930914	single nucleotide variant	NM_152515.5(CKAP2L):c.2198C>T (p.Ala733Val)	not provided [RCV002638234]	uncertain significance	2	112738863	112738863	Human		name
156417467	CV1966970	single nucleotide variant	NM_152515.5(CKAP2L):c.1478T>C (p.Ile493Thr)	not provided [RCV002590205]	uncertain significance	2	112752391	112752391	Human		name
156109757	CV2092810	single nucleotide variant	NM_152515.5(CKAP2L):c.1163C>T (p.Ser388Leu)	Inborn genetic diseases [RCV002913729]\|not provided [RCV002913728]	uncertain significance	2	112756208	112756208	Human	1	name
155961090	CV2144288	single nucleotide variant	NM_152515.5(CKAP2L):c.1442G>A (p.Arg481Gln)	not provided [RCV003015469]	uncertain significance	2	112752427	112752427	Human		name
156065733	CV2197005	single nucleotide variant	NM_152515.5(CKAP2L):c.1399C>G (p.Gln467Glu)	Inborn genetic diseases [RCV002659951]	uncertain significance	2	112752470	112752470	Human	1	name
156231486	CV2199667	single nucleotide variant	NM_152515.5(CKAP2L):c.2072C>T (p.Ser691Leu)	Inborn genetic diseases [RCV002644981]	uncertain significance	2	112738989	112738989	Human	1	name
156240981	CV2213787	single nucleotide variant	NM_152515.5(CKAP2L):c.1797G>T (p.Leu599Phe)	Inborn genetic diseases [RCV002701839]	uncertain significance	2	112742731	112742731	Human	1	name
156342198	CV2226036	single nucleotide variant	NM_152515.5(CKAP2L):c.1976A>T (p.Tyr659Phe)	Inborn genetic diseases [RCV002719256]	uncertain significance	2	112740854	112740854	Human	1	name
156150370	CV2235010	single nucleotide variant	NM_152515.5(CKAP2L):c.1109A>G (p.Gln370Arg)	Inborn genetic diseases [RCV002786859]	uncertain significance	2	112756262	112756262	Human	1	name
155995617	CV2250365	single nucleotide variant	NM_152515.5(CKAP2L):c.2119C>A (p.His707Asn)	Inborn genetic diseases [RCV002794063]	uncertain significance	2	112738942	112738942	Human	1	name
156363790	CV2262709	single nucleotide variant	NM_152515.5(CKAP2L):c.1873G>A (p.Glu625Lys)	Inborn genetic diseases [RCV002813228]	uncertain significance	2	112740957	112740957	Human	1	name
156269656	CV2275718	single nucleotide variant	NM_152515.5(CKAP2L):c.1550T>C (p.Leu517Pro)	Inborn genetic diseases [RCV002832227]	uncertain significance	2	112752319	112752319	Human	1	name
156011701	CV2291173	single nucleotide variant	NM_152515.5(CKAP2L):c.1300A>C (p.Lys434Gln)	Inborn genetic diseases [RCV002884168]	uncertain significance	2	112756071	112756071	Human	1	name
156082631	CV2292942	single nucleotide variant	NM_152515.5(CKAP2L):c.1255G>T (p.Asp419Tyr)	Inborn genetic diseases [RCV002869351]	uncertain significance	2	112756116	112756116	Human	1	name
156061079	CV2305460	single nucleotide variant	NM_152515.5(CKAP2L):c.1699A>C (p.Ser567Arg)	Inborn genetic diseases [RCV002911791]	uncertain significance	2	112746479	112746479	Human	1	name
156277121	CV2328150	single nucleotide variant	NM_152515.5(CKAP2L):c.1840T>G (p.Leu614Val)	Inborn genetic diseases [RCV002921478]	uncertain significance	2	112740990	112740990	Human	1	name
156001605	CV2378831	single nucleotide variant	NM_152515.5(CKAP2L):c.1102G>A (p.Val368Ile)	Inborn genetic diseases [RCV002734201]	likely benign	2	112756269	112756269	Human	1	name
156107441	CV2390131	single nucleotide variant	NM_152515.5(CKAP2L):c.1181C>G (p.Pro394Arg)	Inborn genetic diseases [RCV002739489]	uncertain significance	2	112756190	112756190	Human	1	name
243055671	CV2407442	single nucleotide variant	NM_152515.5(CKAP2L):c.1024G>A (p.Gly342Ser)	Filippi syndrome [RCV003144992]	uncertain significance	2	112756347	112756347	Human	1	name
243055670	CV2407443	single nucleotide variant	NM_152515.5(CKAP2L):c.1283A>G (p.Gln428Arg)	Filippi syndrome [RCV003144993]\|Inborn genetic diseases [RCV004246120]	uncertain significance	2	112756088	112756088	Human	2	name
329361396	CV2436971	single nucleotide variant	NM_152515.5(CKAP2L):c.1364T>C (p.Ile455Thr)	Inborn genetic diseases [RCV003180380]	uncertain significance	2	112756007	112756007	Human	1	name
329349914	CV2456250	single nucleotide variant	NM_152515.5(CKAP2L):c.1864T>C (p.Ser622Pro)	Inborn genetic diseases [RCV003195571]	uncertain significance	2	112740966	112740966	Human	1	name
401749051	CV2694558	single nucleotide variant	NM_152515.5(CKAP2L):c.2053A>G (p.Thr685Ala)	Inborn genetic diseases [RCV003253233]	uncertain significance	2	112739008	112739008	Human	1	name
401760544	CV2705979	single nucleotide variant	NM_152515.5(CKAP2L):c.1195A>G (p.Asn399Asp)	Inborn genetic diseases [RCV003257255]	uncertain significance	2	112756176	112756176	Human	1	name
401893583	CV2765357	single nucleotide variant	NM_152515.5(CKAP2L):c.1151G>C (p.Gly384Ala)	Inborn genetic diseases [RCV003356300]	uncertain significance	2	112756220	112756220	Human	1	name
401897669	CV2772733	single nucleotide variant	NM_152515.5(CKAP2L):c.1597G>A (p.Glu533Lys)	Inborn genetic diseases [RCV003375839]	uncertain significance	2	112752272	112752272	Human	1	name
401890744	CV2775592	single nucleotide variant	NM_152515.5(CKAP2L):c.1247A>C (p.Gln416Pro)	Inborn genetic diseases [RCV003369034]	uncertain significance	2	112756124	112756124	Human	1	name
401896750	CV2788744	single nucleotide variant	NM_152515.5(CKAP2L):c.1741A>G (p.Ile581Val)	Inborn genetic diseases [RCV003374364]	uncertain significance	2	112746437	112746437	Human	1	name
405076189	CV2940813	single nucleotide variant	NM_152515.5(CKAP2L):c.2027C>T (p.Pro676Leu)	not provided [RCV003659713]	uncertain significance	2	112739034	112739034	Human		name
405188978	CV3121357	single nucleotide variant	NM_152515.5(CKAP2L):c.1157T>A (p.Phe386Tyr)	not provided [RCV003820813]	uncertain significance	2	112756214	112756214	Human		name
404985512	CV3183781	single nucleotide variant	NM_152515.5(CKAP2L):c.1450A>G (p.Met484Val)	not provided [RCV003881058]	uncertain significance	2	112752419	112752419	Human		name
405282484	CV3212852	single nucleotide variant	NM_152515.5(CKAP2L):c.1210A>G (p.Asn404Asp)	CKAP2L-related disorder [RCV003956987]\|Inborn genetic diseases [RCV005323633]	benign\|likely benign	2	112756161	112756161	Human	2	name , trait , alternate_id
405701376	CV3225903	single nucleotide variant	NM_152515.5(CKAP2L):c.1604G>A (p.Gly535Asp)	Filippi syndrome [RCV003989342]	likely pathogenic	2	112746574	112746574	Human	1	name
405684151	CV3304510	single nucleotide variant	NM_152515.5(CKAP2L):c.1276G>A (p.Val426Ile)	Inborn genetic diseases [RCV004444044]	uncertain significance	2	112756095	112756095	Human	1	name
405684155	CV3304511	single nucleotide variant	NM_152515.5(CKAP2L):c.1895C>T (p.Ser632Phe)	Inborn genetic diseases [RCV004444045]	uncertain significance	2	112740935	112740935	Human	1	name
405684160	CV3304512	single nucleotide variant	NM_152515.5(CKAP2L):c.1943C>T (p.Thr648Ile)	Inborn genetic diseases [RCV004444046]	uncertain significance	2	112740887	112740887	Human	1	name
405684167	CV3304514	single nucleotide variant	NM_152515.5(CKAP2L):c.2116G>C (p.Glu706Gln)	Inborn genetic diseases [RCV004444048]	uncertain significance	2	112738945	112738945	Human	1	name
407462013	CV3419222	single nucleotide variant	NM_152515.5(CKAP2L):c.1094C>T (p.Thr365Ile)	Inborn genetic diseases [RCV004612757]	uncertain significance	2	112756277	112756277	Human	1	name
407482392	CV3419223	single nucleotide variant	NM_152515.5(CKAP2L):c.1964A>C (p.Glu655Ala)	Inborn genetic diseases [RCV004612758]	uncertain significance	2	112740866	112740866	Human	1	name
407462015	CV3419224	single nucleotide variant	NM_152515.5(CKAP2L):c.1117A>G (p.Lys373Glu)	Inborn genetic diseases [RCV004612759]	uncertain significance	2	112756254	112756254	Human	1	name
407462019	CV3419226	single nucleotide variant	NM_152515.5(CKAP2L):c.1042C>T (p.His348Tyr)	Inborn genetic diseases [RCV004612761]	uncertain significance	2	112756329	112756329	Human	1	name
597646928	CV3650436	single nucleotide variant	NM_152515.5(CKAP2L):c.1162T>C (p.Ser388Pro)	Inborn genetic diseases [RCV004973899]	uncertain significance	2	112756209	112756209	Human	1	name
597631882	CV3650438	single nucleotide variant	NM_152515.5(CKAP2L):c.1172C>G (p.Pro391Arg)	Inborn genetic diseases [RCV004967861]	uncertain significance	2	112756199	112756199	Human	1	name
597632108	CV3650440	single nucleotide variant	NM_152515.5(CKAP2L):c.1216C>T (p.His406Tyr)	Inborn genetic diseases [RCV004967862]	uncertain significance	2	112756155	112756155	Human	1	name
597646936	CV3650441	single nucleotide variant	NM_152515.5(CKAP2L):c.1310C>T (p.Pro437Leu)	Inborn genetic diseases [RCV004973901]	uncertain significance	2	112756061	112756061	Human	1	name
597646941	CV3650442	single nucleotide variant	NM_152515.5(CKAP2L):c.2174G>A (p.Cys725Tyr)	Inborn genetic diseases [RCV004973902]	uncertain significance	2	112738887	112738887	Human	1	name
597699660	CV3650443	single nucleotide variant	NM_152515.5(CKAP2L):c.1903T>A (p.Ser635Thr)	Inborn genetic diseases [RCV004973903]	uncertain significance	2	112740927	112740927	Human	1	name
597646948	CV3650445	single nucleotide variant	NM_152515.5(CKAP2L):c.1339A>G (p.Asn447Asp)	Inborn genetic diseases [RCV004973904]	uncertain significance	2	112756032	112756032	Human	1	name
597646960	CV3650450	single nucleotide variant	NM_152515.5(CKAP2L):c.1625T>G (p.Leu542Arg)	Inborn genetic diseases [RCV004973907]	uncertain significance	2	112746553	112746553	Human	1	name
597893999	CV3809967	single nucleotide variant	NM_152515.5(CKAP2L):c.1632A>G (p.Ile544Met)	not provided [RCV005151688]	uncertain significance	2	112746546	112746546	Human		name
598231770	CV3948244	single nucleotide variant	NM_152515.5(CKAP2L):c.2005A>G (p.Ile669Val)	Inborn genetic diseases [RCV005319619]	uncertain significance	2	112740825	112740825	Human	1	name
598231787	CV3948248	single nucleotide variant	NM_152515.5(CKAP2L):c.1031A>G (p.Tyr344Cys)	Inborn genetic diseases [RCV005319623]	uncertain significance	2	112756340	112756340	Human	1	name
598231793	CV3948250	single nucleotide variant	NM_152515.5(CKAP2L):c.1339A>T (p.Asn447Tyr)	Inborn genetic diseases [RCV005319625]	uncertain significance	2	112756032	112756032	Human	1	name
598231797	CV3948251	single nucleotide variant	NM_152515.5(CKAP2L):c.1034A>G (p.Asn345Ser)	Inborn genetic diseases [RCV005319626]	uncertain significance	2	112756337	112756337	Human	1	name
13489410	CV442905	single nucleotide variant	NM_152515.5(CKAP2L):c.1621A>G (p.Ile541Val)	Filippi syndrome [RCV003488650]\|not provided [RCV000523880]	uncertain significance	2	112746557	112746557	Human	1	name
15193167	CV696976	single nucleotide variant	NM_152515.5(CKAP2L):c.2185C>T (p.Arg729Cys)	not provided [RCV000955293]\|not specified [RCV003151236]	benign	2	112738876	112738876	Human		name
15149766	CV707670	single nucleotide variant	NM_152515.5(CKAP2L):c.2186G>A (p.Arg729His)	not provided [RCV000967816]	benign	2	112738875	112738875	Human		name
15175711	CV707671	single nucleotide variant	NM_152515.5(CKAP2L):c.2084G>A (p.Arg695Gln)	not provided [RCV000973015]	benign	2	112738977	112738977	Human		name
15144339	CV707672	single nucleotide variant	NM_152515.5(CKAP2L):c.1555A>G (p.Ser519Gly)	not provided [RCV000966820]	benign	2	112752314	112752314	Human		name
9691273	CV172089	insertion	NM_152515.5(CKAP2L):c.78_79insTT (p.Gly27fs)	Filippi syndrome [RCV000149781]\|not provided [RCV005241340]	pathogenic	2	112762528	112762529	Human	1	name
9691275	CV172092	deletion	NM_152515.5(CKAP2L):c.554_555del (p.Lys185fs)	Filippi syndrome [RCV000149784]\|not provided [RCV005235044]	pathogenic\|not provided	2	112756816	112756817	Human	1	name
407509037	CV3496429	deletion	NM_152515.5(CKAP2L):c.953_954del (p.Ile318fs)	not provided [RCV004698270]	likely pathogenic	2	112756417	112756418	Human		name
21072168	CV792721	microsatellite	NM_152515.5(CKAP2L):c.552_555del (p.Asn184fs)	Filippi syndrome [RCV000991366]	likely pathogenic	2	112756816	112756819	Human		name
150337887	CV1173670	deletion	NM_152515.5(CKAP2L):c.1463_1467del (p.Thr488fs)	Hypogonadism [RCV001541899]	likely pathogenic	2	112752402	112752406	Human	2	name
150478156	CV1281856	deletion	NM_152515.5(CKAP2L):c.1169_1173del (p.Ile390fs)	Filippi syndrome [RCV001714245]	pathogenic	2	112756198	112756202	Human	1	name
401721106	CV2737444	duplication	NM_152515.5(CKAP2L):c.1004_1029dup (p.Tyr344fs)	Filippi syndrome [RCV003314383]	pathogenic	2	112756341	112756342	Human	1	name
404986336	CV2852487	duplication	NM_152515.5(CKAP2L):c.1046_1053dup (p.Lys352fs)	Filippi syndrome [RCV003489705]	pathogenic	2	112756317	112756318	Human	1	name
13473125	CV442906	deletion	NM_152515.5(CKAP2L):c.1092_1093del (p.Gln364fs)	Filippi syndrome [RCV002481720]\|not provided [RCV000519305]	pathogenic\|likely pathogenic	2	112756278	112756279	Human	1	name
14703607	CV654221	microsatellite	NM_152515.5(CKAP2L):c.1534_1537del (p.Lys512fs)	not specified [RCV000825314]	uncertain significance	2	112752332	112752335	Human		name
156408583	CV1911682	deletion	NM_152515.5(CKAP2L):c.1533_1535del (p.Lys512del)	not provided [RCV002607281]	uncertain significance	2	112752334	112752336	Human		name
598123115	CV3885011	deletion	NM_152515.5(CKAP2L):c.1284_1286del (p.Gln428_Asn429delinsHis)	not specified [RCV005238620]	uncertain significance	2	112756085	112756087	Human		name

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