Shpk Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

212 records found for search term Shpk

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
156376338	CV1896008	single nucleotide variant	NM_013276.4(SHPK):c.494+5G>A	not provided [RCV003092906]	uncertain significance	17	3624043	3624043	Human		name
156409415	CV1961787	single nucleotide variant	NM_013276.4(SHPK):c.824-9G>A	not provided [RCV002586810]	uncertain significance	17	3615546	3615546	Human		name
155986110	CV2136930	single nucleotide variant	NM_013276.4(SHPK):c.647+1G>A	not provided [RCV002996339]	uncertain significance	17	3623338	3623338	Human		name
127321714	CV1157933	duplication	NM_013276.4(SHPK):c.495-19dup	Isolated sedoheptulokinase deficiency [RCV002476831]\|not provided [RCV001523178]	benign\|likely benign	17	3623505	3623506	Human	1	name
152112236	CV1558927	single nucleotide variant	NM_013276.4(SHPK):c.1024+8G>A	not provided [RCV002134631]	likely benign	17	3615329	3615329	Human		name
152134733	CV1638436	single nucleotide variant	NM_013276.4(SHPK):c.1025-7C>T	not provided [RCV002083349]	likely benign	17	3610979	3610979	Human		name
156410949	CV1966060	single nucleotide variant	NM_013276.4(SHPK):c.824-10C>G	not provided [RCV002587329]	likely benign	17	3615547	3615547	Human		name
156088019	CV2007397	single nucleotide variant	NM_013276.4(SHPK):c.310+13C>T	not provided [RCV002694839]	likely benign	17	3630192	3630192	Human		name
405182368	CV2952582	single nucleotide variant	NM_013276.4(SHPK):c.168+14C>T	not provided [RCV003676350]	likely benign	17	3636038	3636038	Human		name
405015555	CV3139015	deletion	NM_013276.4(SHPK):c.168+19del	not provided [RCV003829352]	benign	17	3636033	3636033	Human		name
405246757	CV3162321	single nucleotide variant	NM_013276.4(SHPK):c.310+13C>G	not provided [RCV003868840]	likely benign	17	3630192	3630192	Human		name
597846801	CV3736277	single nucleotide variant	NM_013276.4(SHPK):c.310+11C>T	not provided [RCV005065625]	likely benign	17	3630194	3630194	Human		name
597921809	CV3738427	single nucleotide variant	NM_013276.4(SHPK):c.824-10C>A	not provided [RCV005074834]	uncertain significance	17	3615547	3615547	Human		name
597906407	CV3738756	single nucleotide variant	NM_013276.4(SHPK):c.647+13T>C	not provided [RCV005072991]	likely benign	17	3623326	3623326	Human		name
15174993	CV731144	single nucleotide variant	NM_013276.4(SHPK):c.824-10C>T	not provided [RCV000884258]	likely benign	17	3615547	3615547	Human		name
152144730	CV1616330	single nucleotide variant	NM_013276.4(SHPK):c.1024+12C>T	not provided [RCV002120859]	likely benign	17	3615325	3615325	Human		name
152082854	CV1623631	single nucleotide variant	NM_013276.4(SHPK):c.1024+18C>T	not provided [RCV002149541]	likely benign	17	3615319	3615319	Human		name
156251487	CV2130172	single nucleotide variant	NM_013276.4(SHPK):c.1024+11G>A	not provided [RCV002959225]	likely benign	17	3615326	3615326	Human		name
405243303	CV2974844	single nucleotide variant	NM_013276.4(SHPK):c.1024+16C>T	not provided [RCV003684495]	likely benign	17	3615321	3615321	Human		name
152086472	CV1578113	single nucleotide variant	NM_013276.4(SHPK):c.27C>A (p.Gly9=)	not provided [RCV002171234]	likely benign	17	3636193	3636193	Human		name
405134599	CV3018359	single nucleotide variant	NM_013276.4(SHPK):c.45A>G (p.Thr15=)	not provided [RCV003701921]	likely benign	17	3636175	3636175	Human		name
15165285	CV755798	single nucleotide variant	NM_013276.4(SHPK):c.69G>A (p.Arg23=)	not provided [RCV000926587]	likely benign	17	3636151	3636151	Human		name
127296706	CV1157931	variation	NM_013276.4(SHPK):c.1263= (p.Glu421=)	not provided [RCV001512620]	benign	17	3610734	3610734	Human		name
152042727	CV1538049	single nucleotide variant	NM_013276.4(SHPK):c.282T>C (p.His94=)	not provided [RCV002165900]	likely benign	17	3630233	3630233	Human		name
152047322	CV1556382	single nucleotide variant	NM_013276.4(SHPK):c.261C>T (p.Ile87=)	not provided [RCV002207074]	likely benign	17	3630254	3630254	Human		name
156380287	CV1927488	duplication	NM_013276.4(SHPK):c.39dup (p.Thr14fs)	not provided [RCV002634214]	uncertain significance	17	3636180	3636181	Human		name
156181361	CV2001381	single nucleotide variant	NM_013276.4(SHPK):c.249C>T (p.Ser83=)	not provided [RCV002643033]	likely benign	17	3630266	3630266	Human		name
156140047	CV2094466	single nucleotide variant	NM_013276.4(SHPK):c.26G>A (p.Gly9Asp)	not provided [RCV002890269]	uncertain significance	17	3636194	3636194	Human		name
405152343	CV2885367	single nucleotide variant	NM_013276.4(SHPK):c.14C>G (p.Pro5Arg)	not provided [RCV003561817]	uncertain significance	17	3636206	3636206	Human		name
402481201	CV2910996	single nucleotide variant	NM_013276.4(SHPK):c.14C>T (p.Pro5Leu)	not provided [RCV003572051]\|not specified [RCV004673924]	uncertain significance	17	3636206	3636206	Human		name
405126919	CV3132735	single nucleotide variant	NM_013276.4(SHPK):c.270G>A (p.Ser90=)	not provided [RCV003837898]	likely benign	17	3630245	3630245	Human		name
597884840	CV3745498	single nucleotide variant	NM_013276.4(SHPK):c.141G>C (p.Ala47=)	not provided [RCV005070334]	likely benign	17	3636079	3636079	Human		name
597868647	CV3749691	single nucleotide variant	NM_013276.4(SHPK):c.288C>T (p.Val96=)	not provided [RCV005068372]	likely benign	17	3630227	3630227	Human		name
597960822	CV3756281	single nucleotide variant	NM_013276.4(SHPK):c.23T>A (p.Leu8His)	not provided [RCV005081598]	uncertain significance	17	3636197	3636197	Human		name
15140022	CV740701	single nucleotide variant	NM_013276.4(SHPK):c.105G>A (p.Leu35=)	not provided [RCV000899246]	likely benign	17	3636115	3636115	Human		name
15199731	CV755796	single nucleotide variant	NM_013276.4(SHPK):c.273C>A (p.Gly91=)	not provided [RCV000912635]	benign	17	3630242	3630242	Human		name
15199735	CV755797	single nucleotide variant	NM_013276.4(SHPK):c.210C>T (p.His70=)	not provided [RCV000912636]	benign	17	3630305	3630305	Human		name
151833809	CV1479146	single nucleotide variant	NM_013276.4(SHPK):c.55G>C (p.Ala19Pro)	not provided [RCV002050987]\|not specified [RCV004038827]	uncertain significance	17	3636165	3636165	Human		name
152042321	CV1619601	single nucleotide variant	NM_013276.4(SHPK):c.945G>A (p.Leu315=)	not provided [RCV002188427]	likely benign	17	3615416	3615416	Human		name
152134021	CV1646594	single nucleotide variant	NM_013276.4(SHPK):c.966C>T (p.Asn322=)	not provided [RCV002137302]	likely benign	17	3615395	3615395	Human		name
155955677	CV1876723	single nucleotide variant	NM_013276.4(SHPK):c.84C>A (p.Asp28Glu)	not provided [RCV003074398]	uncertain significance	17	3636136	3636136	Human		name
156404172	CV1886582	single nucleotide variant	NM_013276.4(SHPK):c.660G>C (p.Ser220=)	not provided [RCV003069644]	likely benign	17	3621400	3621400	Human		name
156245497	CV1890286	single nucleotide variant	NM_013276.4(SHPK):c.459C>T (p.Phe153=)	not provided [RCV003085907]	likely benign	17	3624083	3624083	Human		name
156358012	CV1914077	single nucleotide variant	NM_013276.4(SHPK):c.972C>G (p.Gly324=)	not provided [RCV002632477]	likely benign	17	3615389	3615389	Human		name
156362266	CV1931780	single nucleotide variant	NM_013276.4(SHPK):c.342G>A (p.Pro114=)	not provided [RCV002632760]	likely benign	17	3624200	3624200	Human		name
156447231	CV1944875	deletion	NM_013276.4(SHPK):c.118del (p.Arg40fs)	not provided [RCV003118758]	uncertain significance	17	3636102	3636102	Human		name
156375095	CV1960077	single nucleotide variant	NM_013276.4(SHPK):c.711G>A (p.Ala237=)	not provided [RCV002582734]	likely benign	17	3621349	3621349	Human		name
156061541	CV1975148	single nucleotide variant	NM_013276.4(SHPK):c.348C>T (p.Phe116=)	not provided [RCV002590993]	likely benign	17	3624194	3624194	Human		name
156391288	CV1995603	single nucleotide variant	NM_013276.4(SHPK):c.516C>T (p.Tyr172=)	not provided [RCV002680787]	likely benign	17	3623470	3623470	Human		name
156102427	CV2038348	single nucleotide variant	NM_013276.4(SHPK):c.612T>C (p.Tyr204=)	not provided [RCV002761373]	likely benign	17	3623374	3623374	Human		name
155909879	CV2073115	single nucleotide variant	NM_013276.4(SHPK):c.678G>C (p.Leu226=)	not provided [RCV002837628]	likely benign	17	3621382	3621382	Human		name
156128982	CV2112483	single nucleotide variant	NM_013276.4(SHPK):c.690C>T (p.Ile230=)	not provided [RCV002928120]	likely benign	17	3621370	3621370	Human		name
156233764	CV2137205	single nucleotide variant	NM_013276.4(SHPK):c.615C>T (p.Phe205=)	not provided [RCV003007838]	likely benign	17	3623371	3623371	Human		name
156380639	CV2187474	single nucleotide variant	NM_013276.4(SHPK):c.393A>G (p.Arg131=)	not provided [RCV003050455]	likely benign	17	3624149	3624149	Human		name
156135284	CV2245569	single nucleotide variant	NM_013276.4(SHPK):c.64C>G (p.Leu22Val)	not specified [RCV004109649]	likely benign	17	3636156	3636156	Human		name
156174008	CV2247638	single nucleotide variant	NM_013276.4(SHPK):c.29T>C (p.Ile10Thr)	not specified [RCV004110972]	uncertain significance	17	3636191	3636191	Human		name
401913886	CV2814713	single nucleotide variant	NM_013276.4(SHPK):c.711G>C (p.Ala237=)	not provided [RCV003428060]	likely benign	17	3621349	3621349	Human		name
402477402	CV2914173	single nucleotide variant	NM_013276.4(SHPK):c.453G>A (p.Thr151=)	not provided [RCV003571582]	likely benign	17	3624089	3624089	Human		name
405197435	CV2976049	single nucleotide variant	NM_013276.4(SHPK):c.531C>A (p.Thr177=)	not provided [RCV003677708]	likely benign	17	3623455	3623455	Human		name
405009325	CV2990189	single nucleotide variant	NM_013276.4(SHPK):c.372G>C (p.Leu124=)	not provided [RCV003693847]	likely benign	17	3624170	3624170	Human		name
405048249	CV3071787	single nucleotide variant	NM_013276.4(SHPK):c.585C>T (p.Ser195=)	not provided [RCV003740348]	likely benign	17	3623401	3623401	Human		name
405185466	CV3124195	single nucleotide variant	NM_013276.4(SHPK):c.351G>A (p.Glu117=)	not provided [RCV003820393]	likely benign	17	3624191	3624191	Human		name
405186083	CV3124291	single nucleotide variant	NM_013276.4(SHPK):c.519C>T (p.Asp173=)	not provided [RCV003820490]	likely benign	17	3623467	3623467	Human		name
405732641	CV3314637	single nucleotide variant	NM_013276.4(SHPK):c.77C>G (p.Pro26Arg)	not specified [RCV004451222]	uncertain significance	17	3636143	3636143	Human		name
407519193	CV3480560	single nucleotide variant	NM_013276.4(SHPK):c.73G>A (p.Ala25Thr)	not specified [RCV004676384]	uncertain significance	17	3636147	3636147	Human		name
597830554	CV3743091	single nucleotide variant	NM_013276.4(SHPK):c.531C>T (p.Thr177=)	not provided [RCV005062099]	likely benign	17	3623455	3623455	Human		name
597852435	CV3743396	single nucleotide variant	NM_013276.4(SHPK):c.603C>T (p.Ser201=)	not provided [RCV005060746]	likely benign	17	3623383	3623383	Human		name
597964629	CV3754401	single nucleotide variant	NM_013276.4(SHPK):c.471C>T (p.Thr157=)	not provided [RCV005082508]	likely benign	17	3624071	3624071	Human		name
597905959	CV3772904	single nucleotide variant	NM_013276.4(SHPK):c.963C>T (p.Leu321=)	not provided [RCV005112969]	likely benign	17	3615398	3615398	Human		name
597887580	CV3787523	single nucleotide variant	NM_013276.4(SHPK):c.819T>C (p.Asp273=)	not provided [RCV005125089]	likely benign	17	3621241	3621241	Human		name
597962475	CV3809181	single nucleotide variant	NM_013276.4(SHPK):c.492T>C (p.Tyr164=)	not provided [RCV005164083]	likely benign	17	3624050	3624050	Human		name
597967071	CV3824159	single nucleotide variant	NM_013276.4(SHPK):c.879G>A (p.Gln293=)	not provided [RCV005165382]	likely benign	17	3615482	3615482	Human		name
597929579	CV3837449	single nucleotide variant	NM_013276.4(SHPK):c.525C>T (p.Ala175=)	not provided [RCV005185607]	benign	17	3623461	3623461	Human		name
597946249	CV3841609	single nucleotide variant	NM_013276.4(SHPK):c.753G>T (p.Thr251=)	not provided [RCV005189042]	likely benign	17	3621307	3621307	Human		name
15159215	CV740700	single nucleotide variant	NM_013276.4(SHPK):c.831C>T (p.Asn277=)	not provided [RCV000902890]	likely benign	17	3615530	3615530	Human		name
15164208	CV755794	single nucleotide variant	NM_013276.4(SHPK):c.621G>T (p.Thr207=)	not provided [RCV000926324]	likely benign	17	3623365	3623365	Human		name
15165463	CV755795	single nucleotide variant	NM_013276.4(SHPK):c.429G>A (p.Pro143=)	not provided [RCV000926629]	benign	17	3624113	3624113	Human		name
151859487	CV1343988	single nucleotide variant	NM_013276.4(SHPK):c.173G>A (p.Arg58Gln)	not provided [RCV002034190]	uncertain significance	17	3630342	3630342	Human		name
151813653	CV1366343	single nucleotide variant	NM_013276.4(SHPK):c.269C>T (p.Ser90Leu)	not provided [RCV001933451]\|not specified [RCV004857846]	uncertain significance	17	3630246	3630246	Human		name
151855380	CV1387488	single nucleotide variant	NM_013276.4(SHPK):c.272G>A (p.Gly91Asp)	not provided [RCV001958525]	uncertain significance	17	3630243	3630243	Human		name
151713720	CV1464329	single nucleotide variant	NM_013276.4(SHPK):c.244C>T (p.Arg82Trp)	not provided [RCV001964802]\|not specified [RCV004041838]	uncertain significance	17	3630271	3630271	Human		name
152026809	CV1583119	single nucleotide variant	NM_013276.4(SHPK):c.1179C>G (p.Leu393=)	not provided [RCV002084922]	likely benign	17	3610818	3610818	Human		name
156008058	CV1870581	single nucleotide variant	NM_013276.4(SHPK):c.203C>G (p.Ala68Gly)	not provided [RCV003076928]\|not specified [RCV004070415]	uncertain significance	17	3630312	3630312	Human		name
156368682	CV1922594	single nucleotide variant	NM_013276.4(SHPK):c.1086A>G (p.Arg362=)	not provided [RCV002633205]	likely benign	17	3610911	3610911	Human		name
156447232	CV1944876	single nucleotide variant	NM_013276.4(SHPK):c.115G>T (p.Ala39Ser)	not provided [RCV003118759]	uncertain significance	17	3636105	3636105	Human		name
156276863	CV1954731	single nucleotide variant	NM_013276.4(SHPK):c.245G>A (p.Arg82Gln)	not provided [RCV002577353]\|not specified [RCV004064472]	likely benign\|uncertain significance	17	3630270	3630270	Human		name
156003105	CV1987958	single nucleotide variant	NM_013276.4(SHPK):c.1269C>T (p.Gly423=)	not provided [RCV002618543]	likely benign\|uncertain significance	17	3610728	3610728	Human		name
156002966	CV2045680	single nucleotide variant	NM_013276.4(SHPK):c.1299G>A (p.Ala433=)	not provided [RCV002756297]	likely benign	17	3610698	3610698	Human		name
156102508	CV2099336	single nucleotide variant	NM_013276.4(SHPK):c.1341T>C (p.Ala447=)	not provided [RCV002913458]	likely benign	17	3610656	3610656	Human		name
156233532	CV2108562	single nucleotide variant	NM_013276.4(SHPK):c.145G>C (p.Glu49Gln)	not provided [RCV002919028]\|not specified [RCV004857929]	likely benign\|uncertain significance	17	3636075	3636075	Human		name
156117531	CV2117614	single nucleotide variant	NM_013276.4(SHPK):c.262G>A (p.Gly88Arg)	not provided [RCV002953368]	likely benign	17	3630253	3630253	Human		name
155939372	CV2119710	single nucleotide variant	NM_013276.4(SHPK):c.217C>G (p.Leu73Val)	not provided [RCV002971176]\|not specified [RCV004068242]	uncertain significance	17	3630298	3630298	Human		name
155956771	CV2140221	single nucleotide variant	NM_013276.4(SHPK):c.1050G>C (p.Val350=)	not provided [RCV002994939]	likely benign	17	3610947	3610947	Human		name
156248070	CV2145707	single nucleotide variant	NM_013276.4(SHPK):c.170G>A (p.Gly57Glu)	not provided [RCV003008343]	uncertain significance	17	3630345	3630345	Human		name
156334785	CV2191721	single nucleotide variant	NM_013276.4(SHPK):c.1308G>A (p.Arg436=)	not provided [RCV003063900]	likely benign	17	3610689	3610689	Human		name
329354166	CV2447245	single nucleotide variant	NM_013276.4(SHPK):c.250G>A (p.Val84Ile)	not specified [RCV004262539]	uncertain significance	17	3630265	3630265	Human		name
405123480	CV2885228	single nucleotide variant	NM_013276.4(SHPK):c.1204C>T (p.Leu402=)	not provided [RCV003559343]	likely benign	17	3610793	3610793	Human		name
405248889	CV3003847	single nucleotide variant	NM_013276.4(SHPK):c.1107C>T (p.Thr369=)	not provided [RCV003721222]	likely benign	17	3610890	3610890	Human		name
405224203	CV3061443	single nucleotide variant	NM_013276.4(SHPK):c.131C>A (p.Ala44Glu)	not provided [RCV003733709]	uncertain significance	17	3636089	3636089	Human		name
405047601	CV3071818	single nucleotide variant	NM_013276.4(SHPK):c.1032G>A (p.Glu344=)	not provided [RCV003740365]	likely benign	17	3610965	3610965	Human		name
405118662	CV3116111	single nucleotide variant	NM_013276.4(SHPK):c.1182C>T (p.Ser394=)	not provided [RCV003814601]	likely benign	17	3610815	3610815	Human		name
402513982	CV3178770	duplication	NM_013276.4(SHPK):c.420dup (p.Pro141fs)	not provided [RCV003879203]	uncertain significance	17	3624121	3624122	Human		name
12738855	CV359108	single nucleotide variant	NM_013276.4(SHPK):c.211G>T (p.Glu71Ter)	Isolated sedoheptulokinase deficiency [RCV000412642]	affects	17	3630304	3630304	Human	1	name
597939002	CV3775220	single nucleotide variant	NM_013276.4(SHPK):c.1191C>T (p.His397=)	not provided [RCV005118046]	likely benign	17	3610806	3610806	Human		name
597934118	CV3793529	single nucleotide variant	NM_013276.4(SHPK):c.1203T>G (p.Ala401=)	not provided [RCV005132185]	likely benign	17	3610794	3610794	Human		name
597853177	CV3805774	single nucleotide variant	NM_013276.4(SHPK):c.297G>C (p.Trp99Cys)	not provided [RCV005145704]	uncertain significance	17	3630218	3630218	Human		name
15169984	CV740699	single nucleotide variant	NM_013276.4(SHPK):c.1110G>A (p.Pro370=)	not provided [RCV000905177]	likely benign	17	3610887	3610887	Human		name
15197725	CV771448	single nucleotide variant	NM_013276.4(SHPK):c.1122G>A (p.Gly374=)	SHPK-related disorder [RCV003903109]\|not provided [RCV000934594]	likely benign	17	3610875	3610875	Human	1	name , trait , alternate_id
127300166	CV1157932	single nucleotide variant	NM_013276.4(SHPK):c.643G>A (p.Glu215Lys)	not provided [RCV001514025]	benign	17	3623343	3623343	Human		name
151746262	CV1365829	single nucleotide variant	NM_013276.4(SHPK):c.913G>A (p.Ala305Thr)	not provided [RCV001893804]	uncertain significance	17	3615448	3615448	Human		name
151878996	CV1383613	single nucleotide variant	NM_013276.4(SHPK):c.956C>T (p.Ala319Val)	not provided [RCV001907426]\|not specified [RCV004857821]	uncertain significance	17	3615405	3615405	Human		name
151887452	CV1386319	single nucleotide variant	NM_013276.4(SHPK):c.349G>A (p.Glu117Lys)	not provided [RCV001942390]	uncertain significance	17	3624193	3624193	Human		name
151767444	CV1387756	single nucleotide variant	NM_013276.4(SHPK):c.659C>T (p.Ser220Leu)	not provided [RCV001970848]\|not specified [RCV004042238]	uncertain significance	17	3621401	3621401	Human		name
151874678	CV1388208	single nucleotide variant	NM_013276.4(SHPK):c.842C>T (p.Ser281Leu)	not provided [RCV001981749]	uncertain significance	17	3615519	3615519	Human		name
151877473	CV1390582	single nucleotide variant	NM_013276.4(SHPK):c.530C>T (p.Thr177Ile)	not provided [RCV001940577]\|not specified [RCV005278969]	uncertain significance	17	3623456	3623456	Human		name
151785755	CV1397219	single nucleotide variant	NM_013276.4(SHPK):c.431A>G (p.Lys144Arg)	not provided [RCV001930880]	uncertain significance	17	3624111	3624111	Human		name
151856290	CV1401860	single nucleotide variant	NM_013276.4(SHPK):c.691G>A (p.Ala231Thr)	not provided [RCV002017220]\|not specified [RCV004046000]	uncertain significance	17	3621369	3621369	Human		name
151821089	CV1416302	single nucleotide variant	NM_013276.4(SHPK):c.493C>T (p.Arg165Cys)	not provided [RCV001919581]\|not specified [RCV004044156]	likely benign\|uncertain significance	17	3624049	3624049	Human		name
151811582	CV1417487	single nucleotide variant	NM_013276.4(SHPK):c.901A>G (p.Thr301Ala)	not provided [RCV002029021]	uncertain significance	17	3615460	3615460	Human		name
151826949	CV1447296	single nucleotide variant	NM_013276.4(SHPK):c.588C>A (p.Asp196Glu)	not provided [RCV001870153]	uncertain significance	17	3623398	3623398	Human		name
151789210	CV1450895	single nucleotide variant	NM_013276.4(SHPK):c.452C>T (p.Thr151Met)	not provided [RCV001931242]\|not specified [RCV004044314]	uncertain significance	17	3624090	3624090	Human		name
151854154	CV1453498	single nucleotide variant	NM_013276.4(SHPK):c.713G>T (p.Gly238Val)	not provided [RCV001883124]	uncertain significance	17	3621347	3621347	Human		name
151841101	CV1462756	single nucleotide variant	NM_013276.4(SHPK):c.749G>A (p.Gly250Glu)	not provided [RCV002015343]\|not specified [RCV004045476]	uncertain significance	17	3621311	3621311	Human		name
151736545	CV1463604	single nucleotide variant	NM_013276.4(SHPK):c.377C>T (p.Thr126Met)	not provided [RCV001911470]	uncertain significance	17	3624165	3624165	Human		name
151824032	CV1466368	single nucleotide variant	NM_013276.4(SHPK):c.737A>C (p.Glu246Ala)	not provided [RCV001879488]	uncertain significance	17	3621323	3621323	Human		name
151751202	CV1472231	single nucleotide variant	NM_013276.4(SHPK):c.349G>C (p.Glu117Gln)	not provided [RCV002023396]\|not specified [RCV004046769]	uncertain significance	17	3624193	3624193	Human		name
151889349	CV1479633	single nucleotide variant	NM_013276.4(SHPK):c.309A>T (p.Gln103His)	not provided [RCV001888157]	uncertain significance	17	3630206	3630206	Human		name
151839356	CV1492892	single nucleotide variant	NM_013276.4(SHPK):c.647C>T (p.Thr216Ile)	not provided [RCV001881155]	uncertain significance	17	3623339	3623339	Human		name
155688443	CV1775030	single nucleotide variant	NM_013276.4(SHPK):c.655A>G (p.Ser219Gly)	not provided [RCV002294768]\|not specified [RCV004047700]	uncertain significance	17	3621405	3621405	Human		name
156295365	CV1894178	single nucleotide variant	NM_013276.4(SHPK):c.691G>C (p.Ala231Pro)	not provided [RCV003087670]	uncertain significance	17	3621369	3621369	Human		name
156335618	CV1905987	single nucleotide variant	NM_013276.4(SHPK):c.991G>A (p.Val331Ile)	not provided [RCV003090048]	uncertain significance	17	3615370	3615370	Human		name
156378200	CV1914039	single nucleotide variant	NM_013276.4(SHPK):c.698C>T (p.Pro233Leu)	not provided [RCV002603765]	uncertain significance	17	3621362	3621362	Human		name
156409565	CV1922753	single nucleotide variant	NM_013276.4(SHPK):c.338C>T (p.Thr113Ile)	not provided [RCV002607595]\|not specified [RCV004070641]	uncertain significance	17	3624204	3624204	Human		name
156161771	CV1925460	single nucleotide variant	NM_013276.4(SHPK):c.974A>G (p.Asn325Ser)	not provided [RCV002664277]\|not specified [RCV004072135]	uncertain significance	17	3615387	3615387	Human		name
156066199	CV1952282	single nucleotide variant	NM_013276.4(SHPK):c.382C>A (p.Gln128Lys)	not provided [RCV002569464]\|not specified [RCV004064301]	uncertain significance	17	3624160	3624160	Human		name
156076111	CV1956004	single nucleotide variant	NM_013276.4(SHPK):c.367C>T (p.His123Tyr)	not provided [RCV002569757]	uncertain significance	17	3624175	3624175	Human		name
156259922	CV1977496	duplication	NM_013276.4(SHPK):c.1183dup (p.Leu395fs)	not provided [RCV002597745]	uncertain significance	17	3610813	3610814	Human		name
156333757	CV2000805	single nucleotide variant	NM_013276.4(SHPK):c.866C>T (p.Pro289Leu)	not provided [RCV002649964]	uncertain significance	17	3615495	3615495	Human		name
156371623	CV2007809	single nucleotide variant	NM_013276.4(SHPK):c.650T>C (p.Leu217Pro)	not provided [RCV002676946]	uncertain significance	17	3621410	3621410	Human		name
156281644	CV2016368	single nucleotide variant	NM_013276.4(SHPK):c.986C>T (p.Thr329Met)	not provided [RCV002715320]	uncertain significance	17	3615375	3615375	Human		name
155907260	CV2027687	single nucleotide variant	NM_013276.4(SHPK):c.764T>C (p.Val255Ala)	not provided [RCV002726549]	uncertain significance	17	3621296	3621296	Human		name
156115801	CV2104622	single nucleotide variant	NM_013276.4(SHPK):c.902C>T (p.Thr301Met)	not provided [RCV002927617]	uncertain significance	17	3615459	3615459	Human		name
156260130	CV2138574	single nucleotide variant	NM_013276.4(SHPK):c.527G>C (p.Gly176Ala)	not provided [RCV002988435]\|not specified [RCV004065181]	uncertain significance	17	3623459	3623459	Human		name
155912195	CV2153353	single nucleotide variant	NM_013276.4(SHPK):c.859T>C (p.Ser287Pro)	not provided [RCV003012338]	uncertain significance	17	3615502	3615502	Human		name
155950454	CV2164932	single nucleotide variant	NM_013276.4(SHPK):c.888G>T (p.Gln296His)	not provided [RCV003032407]	uncertain significance	17	3615473	3615473	Human		name
156253593	CV2232531	single nucleotide variant	NM_013276.4(SHPK):c.535C>T (p.His179Tyr)	not specified [RCV004099131]	uncertain significance	17	3623451	3623451	Human		name
156191073	CV2255219	single nucleotide variant	NM_013276.4(SHPK):c.620C>T (p.Thr207Met)	not provided [RCV005099659]\|not specified [RCV004115826]	uncertain significance	17	3623366	3623366	Human		name
155974656	CV2318003	single nucleotide variant	NM_013276.4(SHPK):c.352C>A (p.Pro118Thr)	not specified [RCV004177117]	uncertain significance	17	3624190	3624190	Human		name
401874528	CV2774018	single nucleotide variant	NM_013276.4(SHPK):c.422C>T (p.Pro141Leu)	not specified [RCV004358424]	uncertain significance	17	3624120	3624120	Human		name
401880628	CV2792914	single nucleotide variant	NM_013276.4(SHPK):c.392G>A (p.Arg131Gln)	not specified [RCV004365646]	uncertain significance	17	3624150	3624150	Human		name
402500992	CV2923041	single nucleotide variant	NM_013276.4(SHPK):c.440T>C (p.Leu147Pro)	not provided [RCV003573909]	uncertain significance	17	3624102	3624102	Human		name
402489626	CV2984519	single nucleotide variant	NM_013276.4(SHPK):c.923C>G (p.Pro308Arg)	not provided [RCV003713648]	uncertain significance	17	3615438	3615438	Human		name
405135866	CV3052172	single nucleotide variant	NM_013276.4(SHPK):c.331G>A (p.Gly111Arg)	not provided [RCV003725232]	uncertain significance	17	3624211	3624211	Human		name
405208809	CV3065522	single nucleotide variant	NM_013276.4(SHPK):c.436C>T (p.His146Tyr)	not provided [RCV003731695]\|not specified [RCV004673961]	uncertain significance	17	3624106	3624106	Human		name
405226442	CV3069285	single nucleotide variant	NM_013276.4(SHPK):c.994C>T (p.His332Tyr)	not provided [RCV003734134]	uncertain significance	17	3615367	3615367	Human		name
405210060	CV3117606	single nucleotide variant	NM_013276.4(SHPK):c.640G>A (p.Val214Ile)	not provided [RCV003823205]	uncertain significance	17	3623346	3623346	Human		name
405108821	CV3136732	single nucleotide variant	NM_013276.4(SHPK):c.502T>C (p.Phe168Leu)	not provided [RCV003835886]\|not specified [RCV004673988]	uncertain significance	17	3623484	3623484	Human		name
405217900	CV3143754	single nucleotide variant	NM_013276.4(SHPK):c.971G>A (p.Gly324Asp)	not provided [RCV003846724]	uncertain significance	17	3615390	3615390	Human		name
405732627	CV3314635	single nucleotide variant	NM_013276.4(SHPK):c.302C>T (p.Thr101Ile)	not specified [RCV004451220]	uncertain significance	17	3630213	3630213	Human		name
405732635	CV3314636	single nucleotide variant	NM_013276.4(SHPK):c.752C>T (p.Thr251Met)	not specified [RCV004451221]	uncertain significance	17	3621308	3621308	Human		name
405732653	CV3314638	single nucleotide variant	NM_013276.4(SHPK):c.937A>T (p.Thr313Ser)	not specified [RCV004451223]	uncertain significance	17	3615424	3615424	Human		name
405732659	CV3314639	single nucleotide variant	NM_013276.4(SHPK):c.952G>C (p.Ala318Pro)	not specified [RCV004451224]	uncertain significance	17	3615409	3615409	Human		name
407501231	CV3480562	single nucleotide variant	NM_013276.4(SHPK):c.356G>A (p.Arg119Gln)	not specified [RCV004669704]	uncertain significance	17	3624186	3624186	Human		name
12738802	CV359107	single nucleotide variant	NM_013276.4(SHPK):c.355C>T (p.Arg119Ter)	Isolated sedoheptulokinase deficiency [RCV000412581]\|not provided [RCV001861408]	affects\|uncertain significance	17	3624187	3624187	Human	1	name
597718785	CV3598855	single nucleotide variant	NM_013276.4(SHPK):c.469A>G (p.Thr157Ala)	not specified [RCV004861798]	uncertain significance	17	3624073	3624073	Human		name
597718793	CV3598856	single nucleotide variant	NM_013276.4(SHPK):c.506T>A (p.Leu169Gln)	not specified [RCV004861799]	uncertain significance	17	3623480	3623480	Human		name
597718803	CV3598857	single nucleotide variant	NM_013276.4(SHPK):c.554T>C (p.Met185Thr)	not specified [RCV004861800]	uncertain significance	17	3623432	3623432	Human		name
597830822	CV3739480	single nucleotide variant	NM_013276.4(SHPK):c.787T>G (p.Ser263Ala)	not provided [RCV005062370]	uncertain significance	17	3621273	3621273	Human		name
597944371	CV3754999	single nucleotide variant	NM_013276.4(SHPK):c.460G>A (p.Gly154Ser)	not provided [RCV005078188]	uncertain significance	17	3624082	3624082	Human		name
597939519	CV3788557	single nucleotide variant	NM_013276.4(SHPK):c.928T>C (p.Phe310Leu)	not provided [RCV005133232]	uncertain significance	17	3615433	3615433	Human		name
597849712	CV3793127	single nucleotide variant	NM_013276.4(SHPK):c.965A>G (p.Asn322Ser)	not provided [RCV005145263]	uncertain significance	17	3615396	3615396	Human		name
597947344	CV3800676	single nucleotide variant	NM_013276.4(SHPK):c.319T>C (p.Trp107Arg)	not provided [RCV005135076]	uncertain significance	17	3624223	3624223	Human		name
597906210	CV3803931	single nucleotide variant	NM_013276.4(SHPK):c.710C>T (p.Ala237Val)	not provided [RCV005153476]	uncertain significance	17	3621350	3621350	Human		name
597946022	CV3841556	single nucleotide variant	NM_013276.4(SHPK):c.643G>C (p.Glu215Gln)	not provided [RCV005188989]	uncertain significance	17	3623343	3623343	Human		name
15180352	CV715394	single nucleotide variant	NM_013276.4(SHPK):c.955G>A (p.Ala319Thr)	SHPK-related disorder [RCV003972958]\|not provided [RCV000974129]	benign	17	3615406	3615406	Human	1	name , trait , alternate_id
15189231	CV727120	single nucleotide variant	NM_013276.4(SHPK):c.794A>G (p.Tyr265Cys)	SHPK-related disorder [RCV003920692]\|not provided [RCV000887760]	benign	17	3621266	3621266	Human	1	name , trait , alternate_id
15197781	CV727121	single nucleotide variant	NM_013276.4(SHPK):c.694G>A (p.Glu232Lys)	not provided [RCV000890162]	benign	17	3621366	3621366	Human		name
151854531	CV1372666	single nucleotide variant	NM_013276.4(SHPK):c.1435T>C (p.Ter479Gln)	not provided [RCV001996372]	uncertain significance	17	3610562	3610562	Human		name
151719330	CV1373718	single nucleotide variant	NM_013276.4(SHPK):c.1127G>C (p.Arg376Thr)	not provided [RCV001890842]	uncertain significance	17	3610870	3610870	Human		name
151836132	CV1383007	single nucleotide variant	NM_013276.4(SHPK):c.1263G>C (p.Glu421Asp)	not provided [RCV001935576]	uncertain significance	17	3610734	3610734	Human		name
151731537	CV1419270	single nucleotide variant	NM_013276.4(SHPK):c.1352C>T (p.Pro451Leu)	not provided [RCV001946097]	uncertain significance	17	3610645	3610645	Human		name
151736766	CV1422092	single nucleotide variant	NM_013276.4(SHPK):c.1338G>T (p.Arg446Ser)	not provided [RCV001984806]	uncertain significance	17	3610659	3610659	Human		name
151816887	CV1441075	single nucleotide variant	NM_013276.4(SHPK):c.1409G>A (p.Arg470Gln)	not provided [RCV001933760]	uncertain significance	17	3610588	3610588	Human		name
151774281	CV1461924	single nucleotide variant	NM_013276.4(SHPK):c.1192G>A (p.Val398Met)	not provided [RCV001950461]\|not specified [RCV004043109]	uncertain significance	17	3610805	3610805	Human		name
151810572	CV1506568	single nucleotide variant	NM_013276.4(SHPK):c.1277G>T (p.Arg426Met)	not provided [RCV001918567]	uncertain significance	17	3610720	3610720	Human		name
151751785	CV1508445	single nucleotide variant	NM_013276.4(SHPK):c.1232A>G (p.His411Arg)	not provided [RCV001986358]	uncertain significance	17	3610765	3610765	Human		name
155706002	CV1772580	single nucleotide variant	NM_013276.4(SHPK):c.1025G>A (p.Gly342Asp)	not provided [RCV002300269]	uncertain significance	17	3610972	3610972	Human		name
156217010	CV1869409	single nucleotide variant	NM_013276.4(SHPK):c.1244C>A (p.Pro415Gln)	not provided [RCV003058768]\|not specified [RCV004070258]	uncertain significance	17	3610753	3610753	Human		name
156412887	CV1904637	single nucleotide variant	NM_013276.4(SHPK):c.1205T>G (p.Leu402Arg)	not provided [RCV002587979]	uncertain significance	17	3610792	3610792	Human		name
156418696	CV1918639	single nucleotide variant	NM_013276.4(SHPK):c.1211G>A (p.Arg404Gln)	not provided [RCV002611899]\|not specified [RCV004673814]	uncertain significance	17	3610786	3610786	Human		name
156364637	CV1928602	single nucleotide variant	NM_013276.4(SHPK):c.1360T>G (p.Phe454Val)	not provided [RCV002632918]	uncertain significance	17	3610637	3610637	Human		name
156410503	CV1958405	single nucleotide variant	NM_013276.4(SHPK):c.1174G>A (p.Asp392Asn)	not provided [RCV002587173]\|not specified [RCV004064516]	uncertain significance	17	3610823	3610823	Human		name
155910942	CV1980153	single nucleotide variant	NM_013276.4(SHPK):c.1259A>T (p.Gln420Leu)	not provided [RCV002613985]	uncertain significance	17	3610738	3610738	Human		name
156255485	CV1981806	single nucleotide variant	NM_013276.4(SHPK):c.1210C>T (p.Arg404Ter)	not provided [RCV002646038]	uncertain significance	17	3610787	3610787	Human		name
156212744	CV1983503	single nucleotide variant	NM_013276.4(SHPK):c.1073C>T (p.Ala358Val)	not provided [RCV002626139]	uncertain significance	17	3610924	3610924	Human		name
156111389	CV2042662	single nucleotide variant	NM_013276.4(SHPK):c.1136C>T (p.Pro379Leu)	not provided [RCV002785412]	uncertain significance	17	3610861	3610861	Human		name
156194616	CV2113581	single nucleotide variant	NM_013276.4(SHPK):c.1198C>T (p.Arg400Trp)	not provided [RCV002957167]	uncertain significance	17	3610799	3610799	Human		name
156250147	CV2199647	single nucleotide variant	NM_013276.4(SHPK):c.1130A>G (p.His377Arg)	not provided [RCV003777580]\|not specified [RCV004072386]	uncertain significance	17	3610867	3610867	Human		name
156178852	CV2298331	single nucleotide variant	NM_013276.4(SHPK):c.1322A>G (p.Lys441Arg)	not specified [RCV004160228]	uncertain significance	17	3610675	3610675	Human		name
405179475	CV2956107	single nucleotide variant	NM_013276.4(SHPK):c.1183C>G (p.Leu395Val)	not provided [RCV003676128]	uncertain significance	17	3610814	3610814	Human		name
402507232	CV3181743	single nucleotide variant	NM_013276.4(SHPK):c.1222C>A (p.Gln408Lys)	not provided [RCV003878577]\|not specified [RCV004676319]	uncertain significance	17	3610775	3610775	Human		name
405732613	CV3314633	single nucleotide variant	NM_013276.4(SHPK):c.1087G>T (p.Asp363Tyr)	not specified [RCV004451218]	uncertain significance	17	3610910	3610910	Human		name
405732623	CV3314634	single nucleotide variant	NM_013276.4(SHPK):c.1254G>T (p.Gln418His)	not specified [RCV004451219]	uncertain significance	17	3610743	3610743	Human		name
407501235	CV3480561	single nucleotide variant	NM_013276.4(SHPK):c.1297G>A (p.Ala433Thr)	not specified [RCV004669703]	uncertain significance	17	3610700	3610700	Human		name
597718778	CV3598854	single nucleotide variant	NM_013276.4(SHPK):c.1270G>A (p.Val424Met)	not specified [RCV004861797]	uncertain significance	17	3610727	3610727	Human		name
598242084	CV3914258	single nucleotide variant	NM_013276.4(SHPK):c.1408C>T (p.Arg470Trp)	not specified [RCV005276463]	uncertain significance	17	3610589	3610589	Human		name
598199294	CV3914259	single nucleotide variant	NM_013276.4(SHPK):c.1244C>T (p.Pro415Leu)	not specified [RCV005268373]	uncertain significance	17	3610753	3610753	Human		name
15153138	CV715393	single nucleotide variant	NM_013276.4(SHPK):c.1237A>G (p.Met413Val)	not provided [RCV000968489]	likely benign	17	3610760	3610760	Human		name
151842633	CV1357733	deletion	NM_013276.4(SHPK):c.288_292del (p.Val97fs)	not provided [RCV001881543]	uncertain significance	17	3630223	3630227	Human		name
151762814	CV1425557	deletion	NM_013276.4(SHPK):c.1157_1161del (p.Thr386fs)	not provided [RCV001928724]	uncertain significance	17	3610836	3610840	Human		name
597864689	CV3861096	deletion	NM_013276.4(SHPK):c.738_746del (p.Ile247_Lys249del)	not provided [RCV005196444]	uncertain significance	17	3621314	3621322	Human		name
151882428	CV1371272	insertion	NM_013276.4(SHPK):c.902_903insTACTGGAGTAGTA (p.Ala302fs)	not provided [RCV001886725]	uncertain significance	17	3615458	3615459	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message