St14 Variant Search Result - Rat Genome Database

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220 records found for search term St14

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150462782	CV1253710	single nucleotide variant	NM_021978.4(ST14):c.*299C>T	not provided [RCV001669752]	benign	11	130210122	130210122	Human		name
150468132	CV1277688	single nucleotide variant	NM_021978.4(ST14):c.81+83C>T	not provided [RCV001710983]	benign	11	130160143	130160143	Human		name
150545061	CV1315400	single nucleotide variant	NM_021978.4(ST14):c.241+1G>A	Autosomal recessive congenital ichthyosis 11 [RCV001783816]	likely pathogenic	11	130188274	130188274	Human	1	name
152164264	CV1605019	single nucleotide variant	NM_021978.4(ST14):c.635-5C>T	not provided [RCV002204003]	benign\|likely benign	11	130190449	130190449	Human		name
402520675	CV3179473	single nucleotide variant	NM_021978.4(ST14):c.82-17C>T	not provided [RCV003879725]	benign	11	130188097	130188097	Human		name
405275946	CV3199527	single nucleotide variant	NM_021978.4(ST14):c.876-5C>G	ST14-related disorder [RCV003916926]	likely benign	11	130194144	130194144	Human		name , trait , alternate_id
15189439	CV775800	single nucleotide variant	NM_021978.4(ST14):c.598+9G>A	not provided [RCV000932241]	likely benign	11	130189905	130189905	Human		name
150334643	CV1164380	duplication	NM_021978.4(ST14):c.1224-6dup	not provided [RCV001727872]\|not specified [RCV001529767]	benign\|likely benign	11	130196557	130196558	Human		name
150440089	CV1265059	single nucleotide variant	NM_021978.4(ST14):c.875+23A>G	Autosomal recessive congenital ichthyosis 11 [RCV001810241]\|not provided [RCV001679052]	benign	11	130190717	130190717	Human	1	name
8591260	CV131951	single nucleotide variant	NM_021978.4(ST14):c.2269+1G>A	Autosomal recessive congenital ichthyosis 11 [RCV000114359]\|Ichthyosis [RCV004798778]	pathogenic\|likely pathogenic	11	130208685	130208685	Human	3	name
152036435	CV1605292	single nucleotide variant	NM_021978.4(ST14):c.1224-5T>C	ST14-related disorder [RCV003978489]\|not provided [RCV002087285]	benign	11	130196565	130196565	Human	1	name , trait , alternate_id
152033974	CV1610496	single nucleotide variant	NM_021978.4(ST14):c.2406+4G>C	ST14-related disorder [RCV003913739]\|not provided [RCV002125025]	benign	11	130209582	130209582	Human	1	name , trait , alternate_id
152030931	CV1632363	single nucleotide variant	NM_021978.4(ST14):c.242-19G>A	not provided [RCV002124446]	benign	11	130188511	130188511	Human		name
155968771	CV2152389	single nucleotide variant	NM_021978.4(ST14):c.1459+5G>A	not provided [RCV003015832]	uncertain significance	11	130197950	130197950	Human		name
597939927	CV3760579	single nucleotide variant	NM_021978.4(ST14):c.1994+1G>A	not provided [RCV005077306]	likely pathogenic	11	130200138	130200138	Human		name
597904450	CV3793287	single nucleotide variant	NM_021978.4(ST14):c.1571-4C>G	not provided [RCV005153255]	likely benign	11	130198504	130198504	Human		name
15167894	CV744610	single nucleotide variant	NM_021978.4(ST14):c.1807+7A>G	not provided [RCV000904742]	likely benign	11	130199076	130199076	Human		name
15194958	CV775803	single nucleotide variant	NM_021978.4(ST14):c.1015+9G>C	not provided [RCV000933795]	likely benign	11	130194297	130194297	Human		name
15184404	CV777905	single nucleotide variant	NM_021978.4(ST14):c.2269+3A>G	not provided [RCV000952698]	likely benign	11	130208687	130208687	Human		name
15170791	CV779438	single nucleotide variant	NM_021978.4(ST14):c.1684+7C>T	not provided [RCV000972077]	benign	11	130198628	130198628	Human		name
150335406	CV1172213	single nucleotide variant	NM_021978.4(ST14):c.1808-56T>G	not provided [RCV001540546]	benign	11	130199895	130199895	Human		name
150508984	CV1214184	single nucleotide variant	NM_021978.4(ST14):c.1459+52C>T	not provided [RCV001596705]	benign	11	130197997	130197997	Human		name
150507208	CV1226534	single nucleotide variant	NM_021978.4(ST14):c.1684+38C>T	Autosomal recessive congenital ichthyosis 11 [RCV001810157]\|not provided [RCV001635902]	benign	11	130198659	130198659	Human	1	name
150478651	CV1238942	single nucleotide variant	NM_021978.4(ST14):c.635-132C>T	not provided [RCV001652407]	benign	11	130190322	130190322	Human		name
150461737	CV1253278	single nucleotide variant	NM_021978.4(ST14):c.1113+73A>G	not provided [RCV001669607]	benign	11	130194810	130194810	Human		name
150494772	CV1256519	single nucleotide variant	NM_021978.4(ST14):c.1015+40A>G	Autosomal recessive congenital ichthyosis 11 [RCV001810220]\|not provided [RCV001675484]	benign	11	130194328	130194328	Human	1	name
150478863	CV1273369	single nucleotide variant	NM_021978.4(ST14):c.1223+29G>A	Autosomal recessive congenital ichthyosis 11 [RCV001810265]\|not provided [RCV001696572]	benign	11	130196477	130196477	Human	1	name
152161459	CV1534751	single nucleotide variant	NM_021978.4(ST14):c.1223+15G>C	not provided [RCV002140991]	likely benign	11	130196463	130196463	Human		name
152125725	CV1554116	single nucleotide variant	NM_021978.4(ST14):c.1571-15C>A	not provided [RCV002098794]	benign	11	130198493	130198493	Human		name
405185687	CV3124246	single nucleotide variant	NM_021978.4(ST14):c.1224-14C>T	not provided [RCV003820445]	benign	11	130196556	130196556	Human		name
405154192	CV3135114	single nucleotide variant	NM_021978.4(ST14):c.1994+20G>A	not provided [RCV003840226]	likely benign	11	130200157	130200157	Human		name
13533773	CV508861	single nucleotide variant	NM_021978.4(ST14):c.1113+15G>A	Autosomal recessive congenital ichthyosis 11 [RCV000607725]\|not provided [RCV001644706]	benign	11	130194752	130194752	Human	1	name
15186396	CV730750	single nucleotide variant	NM_021978.4(ST14):c.1223+10C>T	not provided [RCV000886963]	benign	11	130196458	130196458	Human		name
150514330	CV1213431	single nucleotide variant	NM_021978.4(ST14):c.2270-103G>C	not provided [RCV001599022]	benign	11	130209339	130209339	Human		name
150510947	CV1229304	single nucleotide variant	NM_021978.4(ST14):c.1354+307G>A	not provided [RCV001637232]	benign	11	130197007	130197007	Human		name
150508868	CV1229750	single nucleotide variant	NM_021978.4(ST14):c.1113+115A>G	not provided [RCV001636329]	benign	11	130194852	130194852	Human		name
150431048	CV1235317	single nucleotide variant	NM_021978.4(ST14):c.1808-142C>T	not provided [RCV001641687]	benign	11	130199809	130199809	Human		name
150444043	CV1249360	single nucleotide variant	NM_021978.4(ST14):c.1459+147A>C	not provided [RCV001666792]	benign	11	130198092	130198092	Human		name
150451365	CV1254817	single nucleotide variant	NM_021978.4(ST14):c.1354+305C>T	not provided [RCV001667876]	benign	11	130197005	130197005	Human		name
150461199	CV1264277	single nucleotide variant	NM_021978.4(ST14):c.1114-145C>A	not provided [RCV001682194]	benign	11	130196194	130196194	Human		name
150489507	CV1268910	single nucleotide variant	NM_021978.4(ST14):c.1354+272T>C	not provided [RCV001687474]	benign	11	130196972	130196972	Human		name
150498412	CV1271506	single nucleotide variant	NM_021978.4(ST14):c.1808-290G>A	not provided [RCV001689196]	benign	11	130199661	130199661	Human		name
150496215	CV1272826	single nucleotide variant	NM_021978.4(ST14):c.1354+276C>T	not provided [RCV001688749]	benign	11	130196976	130196976	Human		name
150466035	CV1277337	single nucleotide variant	NM_021978.4(ST14):c.1807+222A>G	not provided [RCV001710632]	benign	11	130199291	130199291	Human		name
405031888	CV3009057	single nucleotide variant	NM_021978.4(ST14):c.6G>A (p.Gly2=)	not provided [RCV003695635]	benign	11	130159985	130159985	Human		name
156249489	CV2097971	single nucleotide variant	NM_021978.4(ST14):c.21C>T (p.Arg7=)	not provided [RCV002895209]	benign\|likely benign	11	130160000	130160000	Human		name
156310620	CV1895355	single nucleotide variant	NM_021978.4(ST14):c.36C>T (p.Gly12=)	not provided [RCV003088423]	likely benign	11	130160015	130160015	Human		name
8596271	CV19078	single nucleotide variant	NM_021978.4(ST14):c.3G>A (p.Met1Ile)	Autosomal recessive congenital ichthyosis 11 [RCV000004254]	pathogenic	11	130159982	130159982	Human	1	name
150411424	CV1196065	insertion	NM_021978.4(ST14):c.1224-8_1224-7insT	ST14-related disorder [RCV003980711]\|not provided [RCV001573676]	likely benign	11	130196562	130196563	Human	1	name , trait , alternate_id
152090835	CV1662040	single nucleotide variant	NM_021978.4(ST14):c.120A>G (p.Pro40=)	not provided [RCV002132024]	benign	11	130188152	130188152	Human		name
405033977	CV3009058	insertion	NM_021978.4(ST14):c.1224-8_1224-7insA	ST14-related disorder [RCV003966569]\|not provided [RCV003695636]	benign\|likely benign	11	130196562	130196563	Human	1	name , trait , alternate_id
597932519	CV3780769	single nucleotide variant	NM_021978.4(ST14):c.12T>A (p.Asp4Glu)	not provided [RCV005116881]	benign	11	130159991	130159991	Human		name
15110593	CV752552	single nucleotide variant	NM_021978.4(ST14):c.180C>T (p.Ala60=)	not provided [RCV000916563]	likely benign	11	130188212	130188212	Human		name
8633938	CV89154	single nucleotide variant	NM_021978.3(ST14):c.223C>T (p.Leu75=)	Malignant melanoma [RCV000069251]	not provided	11	130188255	130188255	Human		name
156413838	CV1905598	single nucleotide variant	NM_021978.4(ST14):c.513C>T (p.Arg171=)	not provided [RCV003073466]	likely benign	11	130189811	130189811	Human		name
401905763	CV2810024	single nucleotide variant	NM_021978.4(ST14):c.492C>T (p.His164=)	not provided [RCV003396090]	likely benign	11	130189790	130189790	Human		name
405135017	CV2896800	single nucleotide variant	NM_021978.4(ST14):c.639C>T (p.Ser213=)	not provided [RCV003560344]	likely benign	11	130190458	130190458	Human		name
405220827	CV2904248	single nucleotide variant	NM_021978.4(ST14):c.840C>T (p.Asn280=)	not provided [RCV003568353]	benign	11	130190659	130190659	Human		name
405132373	CV3051280	single nucleotide variant	NM_021978.4(ST14):c.753C>T (p.Asp251=)	not provided [RCV003724941]	likely benign	11	130190572	130190572	Human		name
405264736	CV3185367	single nucleotide variant	NM_021978.4(ST14):c.330C>T (p.Ser110=)	not provided [RCV003885931]	likely benign	11	130188618	130188618	Human		name
405286358	CV3192742	single nucleotide variant	NM_021978.4(ST14):c.558C>T (p.Arg186=)	ST14-related disorder [RCV003981490]	likely benign	11	130189856	130189856	Human		name , trait , alternate_id
405295392	CV3209507	single nucleotide variant	NM_021978.4(ST14):c.657C>T (p.His219=)	ST14-related disorder [RCV003937278]	likely benign	11	130190476	130190476	Human		name , trait , alternate_id
405279700	CV3217662	single nucleotide variant	NM_021978.4(ST14):c.825G>A (p.Leu275=)	ST14-related disorder [RCV003977021]	likely benign	11	130190644	130190644	Human		name , trait , alternate_id
405720073	CV3323409	single nucleotide variant	NM_021978.4(ST14):c.50G>T (p.Gly17Val)	Inborn genetic diseases [RCV004463010]	uncertain significance	11	130160029	130160029	Human	1	name
405720096	CV3323412	single nucleotide variant	NM_021978.4(ST14):c.71C>T (p.Ser24Phe)	Inborn genetic diseases [RCV004463013]	uncertain significance	11	130160050	130160050	Human	1	name
407526162	CV3475047	single nucleotide variant	NM_021978.4(ST14):c.50G>C (p.Gly17Ala)	Inborn genetic diseases [RCV004679550]	uncertain significance	11	130160029	130160029	Human	1	name
407526169	CV3475056	single nucleotide variant	NM_021978.4(ST14):c.74G>A (p.Arg25Gln)	Inborn genetic diseases [RCV004679553]	uncertain significance	11	130160053	130160053	Human	1	name
15117584	CV712719	single nucleotide variant	NM_021978.4(ST14):c.315C>T (p.Tyr105=)	not provided [RCV000962230]	benign	11	130188603	130188603	Human		name
15185869	CV724310	single nucleotide variant	NM_021978.4(ST14):c.798G>A (p.Ala266=)	not provided [RCV000886815]	benign	11	130190617	130190617	Human		name
15189750	CV737867	single nucleotide variant	NM_021978.4(ST14):c.804C>T (p.Cys268=)	not provided [RCV000909745]	likely benign	11	130190623	130190623	Human		name
15150968	CV752553	single nucleotide variant	NM_021978.4(ST14):c.522C>T (p.Ala174=)	not provided [RCV000923577]	likely benign	11	130189820	130189820	Human		name
15146295	CV752555	single nucleotide variant	NM_021978.4(ST14):c.585A>C (p.Ser195=)	not provided [RCV000922695]	likely benign	11	130189883	130189883	Human		name
15202858	CV752556	single nucleotide variant	NM_021978.4(ST14):c.708C>T (p.Ser236=)	not provided [RCV000913580]	benign	11	130190527	130190527	Human		name
126731633	CV1000721	single nucleotide variant	NM_021978.4(ST14):c.1314C>T (p.Thr438=)	not provided [RCV001310625]	likely benign	11	130196660	130196660	Human		name
150508347	CV1244809	single nucleotide variant	NM_021978.4(ST14):c.185T>C (p.Leu62Pro)	not provided [RCV001659058]	uncertain significance	11	130188217	130188217	Human		name
150457876	CV1260201	single nucleotide variant	NM_021978.4(ST14):c.1659G>C (p.Gly553=)	not provided [RCV001681681]	benign	11	130198596	130198596	Human		name
152067709	CV1566927	single nucleotide variant	NM_021978.4(ST14):c.2277C>A (p.Gly759=)	ST14-related disorder [RCV004758212]\|not provided [RCV002091155]	likely benign	11	130209449	130209449	Human	1	name , trait , alternate_id
152054173	CV1575144	single nucleotide variant	NM_021978.4(ST14):c.254G>A (p.Arg85His)	not provided [RCV002109337]	benign	11	130188542	130188542	Human		name
152025895	CV1586610	single nucleotide variant	NM_021978.4(ST14):c.1383G>T (p.Thr461=)	ST14-related disorder [RCV003913558]\|not provided [RCV002184972]	benign	11	130197869	130197869	Human	1	name , trait , alternate_id
152033778	CV1610446	single nucleotide variant	NM_021978.4(ST14):c.2424C>T (p.Pro808=)	not provided [RCV002124991]	benign	11	130209679	130209679	Human		name
152164347	CV1619838	single nucleotide variant	NM_021978.4(ST14):c.1248C>T (p.Phe416=)	not provided [RCV002181520]	likely benign	11	130196594	130196594	Human		name
152038851	CV1642405	single nucleotide variant	NM_021978.4(ST14):c.1557C>T (p.Asp519=)	not provided [RCV002107433]	likely benign	11	130198405	130198405	Human		name
156444554	CV1938415	single nucleotide variant	NM_021978.4(ST14):c.1764C>T (p.Asp588=)	not provided [RCV003115478]	likely benign	11	130199026	130199026	Human		name
156356033	CV1962408	single nucleotide variant	NM_021978.4(ST14):c.2187C>A (p.Pro729=)	not provided [RCV002581396]	likely benign	11	130208602	130208602	Human		name
156205775	CV2146822	deletion	NM_021978.4(ST14):c.628del (p.Gln210fs)	not provided [RCV003006490]	pathogenic	11	130190140	130190140	Human		name
401868452	CV2781106	single nucleotide variant	NM_021978.4(ST14):c.253C>T (p.Arg85Cys)	Inborn genetic diseases [RCV003360348]	uncertain significance	11	130188541	130188541	Human	1	name
405085960	CV3028431	single nucleotide variant	NM_021978.4(ST14):c.1170C>T (p.Pro390=)	not provided [RCV003699401]	likely benign	11	130196395	130196395	Human		name
405260008	CV3186514	single nucleotide variant	NM_021978.4(ST14):c.188T>A (p.Ile63Asn)	not provided [RCV003884273]	uncertain significance	11	130188220	130188220	Human		name
405285159	CV3202480	single nucleotide variant	NM_021978.4(ST14):c.2337C>A (p.Leu779=)	ST14-related disorder [RCV003909743]	likely benign	11	130209509	130209509	Human		name , trait , alternate_id
407517190	CV3475055	single nucleotide variant	NM_021978.4(ST14):c.155C>T (p.Pro52Leu)	Inborn genetic diseases [RCV004675560]	uncertain significance	11	130188187	130188187	Human	1	name
597633090	CV3608555	single nucleotide variant	NM_021978.4(ST14):c.2286C>A (p.Ile762=)	Inborn genetic diseases [RCV004969004]	likely benign	11	130209458	130209458	Human	1	name
597930200	CV3837540	single nucleotide variant	NM_021978.4(ST14):c.1467C>T (p.Asp489=)	not provided [RCV005185698]	likely benign	11	130198315	130198315	Human		name
597926635	CV3840521	single nucleotide variant	NM_021978.4(ST14):c.1230C>T (p.Cys410=)	not provided [RCV005184992]	likely benign	11	130196576	130196576	Human		name
597959426	CV3843386	single nucleotide variant	NM_021978.4(ST14):c.2415C>T (p.Ser805=)	not provided [RCV005192420]	likely benign	11	130209670	130209670	Human		name
597888649	CV3859536	single nucleotide variant	NM_021978.4(ST14):c.1923C>T (p.Cys641=)	not provided [RCV005200192]	likely benign	11	130200066	130200066	Human		name
598175352	CV3923048	single nucleotide variant	NM_021978.4(ST14):c.106G>A (p.Val36Met)	Inborn genetic diseases [RCV005285475]	uncertain significance	11	130188138	130188138	Human	1	name
598175389	CV3923056	single nucleotide variant	NM_021978.4(ST14):c.138G>T (p.Lys46Asn)	Inborn genetic diseases [RCV005285482]	uncertain significance	11	130188170	130188170	Human	1	name
617153154	CV4021129	single nucleotide variant	NM_021978.4(ST14):c.1374G>A (p.Thr458=)	not provided [RCV005428882]	likely benign	11	130197860	130197860	Human		name
13533833	CV508862	single nucleotide variant	NM_021978.4(ST14):c.1215C>T (p.Asn405=)	Autosomal recessive congenital ichthyosis 11 [RCV000613645]\|not provided [RCV002060660]	benign	11	130196440	130196440	Human	1	name
15175033	CV712722	single nucleotide variant	NM_021978.4(ST14):c.1260C>T (p.Ser420=)	not provided [RCV000972849]	benign	11	130196606	130196606	Human		name
15180923	CV724311	single nucleotide variant	NM_021978.4(ST14):c.1464C>T (p.Cys488=)	ST14-related disorder [RCV004758065]\|not provided [RCV000885644]	benign\|likely benign	11	130198312	130198312	Human	1	name , trait , alternate_id
15197289	CV724312	single nucleotide variant	NM_021978.4(ST14):c.1542C>T (p.Cys514=)	not provided [RCV000890016]	benign	11	130198390	130198390	Human		name
15192324	CV737869	single nucleotide variant	NM_021978.4(ST14):c.1341C>T (p.Tyr447=)	not provided [RCV000910506]	benign	11	130196687	130196687	Human		name
15169713	CV737870	single nucleotide variant	NM_021978.4(ST14):c.1470C>T (p.Ala490=)	not provided [RCV000905115]	likely benign	11	130198318	130198318	Human		name
15138242	CV737871	single nucleotide variant	NM_021978.4(ST14):c.1554C>T (p.Ser518=)	not provided [RCV000898945]	likely benign	11	130198402	130198402	Human		name
15168821	CV737872	single nucleotide variant	NM_021978.4(ST14):c.2004C>T (p.Asp668=)	not provided [RCV000904937]	likely benign	11	130208419	130208419	Human		name
15183799	CV737873	single nucleotide variant	NM_021978.4(ST14):c.2160G>A (p.Pro720=)	not provided [RCV000908137]	benign	11	130208575	130208575	Human		name
15172968	CV737874	single nucleotide variant	NM_021978.4(ST14):c.2304C>T (p.Ile768=)	not provided [RCV000905774]	benign\|likely benign	11	130209476	130209476	Human		name
15200791	CV752558	single nucleotide variant	NM_021978.4(ST14):c.2463C>T (p.Ala821=)	ST14-related disorder [RCV003950773]\|not provided [RCV000912947]	likely benign	11	130209718	130209718	Human	1	name , trait , alternate_id
15098966	CV768309	single nucleotide variant	NM_021978.4(ST14):c.1863G>A (p.Ala621=)	not provided [RCV000936391]	benign	11	130200006	130200006	Human		name
8626949	CV82093	single nucleotide variant	NM_021978.3(ST14):c.1932C>T (p.Ser644=)	Malignant melanoma [RCV000062172]	not provided	11	130200075	130200075	Human		name
28881001	CV859847	single nucleotide variant	NM_021978.4(ST14):c.238C>T (p.Gln80Ter)	not provided [RCV001092304]	likely pathogenic	11	130188270	130188270	Human		name
8591261	CV131952	deletion	NM_021978.4(ST14):c.2034del (p.Leu678fs)	Autosomal recessive congenital ichthyosis 11 [RCV000114360]	pathogenic	11	130208449	130208449	Human	1	name
151856158	CV1448995	single nucleotide variant	NM_021978.4(ST14):c.307G>C (p.Asp103His)	not provided [RCV001979546]	uncertain significance	11	130188595	130188595	Human		name
151815922	CV1485654	single nucleotide variant	NM_021978.4(ST14):c.679C>G (p.Arg227Gly)	not provided [RCV002029421]	uncertain significance	11	130190498	130190498	Human		name
152139721	CV1560124	single nucleotide variant	NM_021978.4(ST14):c.855G>A (p.Met285Ile)	not provided [RCV002138015]	benign	11	130190674	130190674	Human	2	name
156219460	CV2225935	single nucleotide variant	NM_021978.4(ST14):c.814G>A (p.Gly272Ser)	Inborn genetic diseases [RCV002766939]\|not provided [RCV003229939]	uncertain significance	11	130190633	130190633	Human	1	name
156063300	CV2228710	single nucleotide variant	NM_021978.4(ST14):c.357G>C (p.Lys119Asn)	Inborn genetic diseases [RCV002736938]	uncertain significance	11	130188645	130188645	Human	1	name
156087333	CV2336949	single nucleotide variant	NM_021978.4(ST14):c.739G>A (p.Ala247Thr)	Inborn genetic diseases [RCV002952159]	likely benign	11	130190558	130190558	Human	1	name
243053829	CV2418297	single nucleotide variant	NM_021978.4(ST14):c.797C>T (p.Ala266Val)	not provided [RCV003154354]	uncertain significance	11	130190616	130190616	Human		name
329360968	CV2439690	single nucleotide variant	NM_021978.4(ST14):c.931G>A (p.Val311Ile)	Inborn genetic diseases [RCV003180068]	uncertain significance	11	130194204	130194204	Human	1	name
401770513	CV2685747	single nucleotide variant	NM_021978.4(ST14):c.661C>T (p.Arg221Cys)	Inborn genetic diseases [RCV003284426]	uncertain significance	11	130190480	130190480	Human	1	name
401779096	CV2733118	single nucleotide variant	NM_021978.4(ST14):c.551G>A (p.Arg184Gln)	Inborn genetic diseases [RCV003307085]	uncertain significance	11	130189849	130189849	Human	1	name
401893161	CV2755046	single nucleotide variant	NM_021978.4(ST14):c.511C>A (p.Arg171Ser)	Inborn genetic diseases [RCV003356087]	uncertain significance	11	130189809	130189809	Human	1	name
401893774	CV2763764	single nucleotide variant	NM_021978.4(ST14):c.645C>G (p.Ser215Arg)	Inborn genetic diseases [RCV003356394]	uncertain significance	11	130190464	130190464	Human	1	name
401867053	CV2780046	single nucleotide variant	NM_021978.4(ST14):c.358G>A (p.Val120Met)	Inborn genetic diseases [RCV003360157]	uncertain significance	11	130188646	130188646	Human	1	name
405095408	CV3022926	duplication	NM_021978.4(ST14):c.1047dup (p.Thr350fs)	not provided [RCV003700046]	pathogenic	11	130194667	130194668	Human		name
405720055	CV3323406	single nucleotide variant	NM_021978.4(ST14):c.481A>T (p.Ile161Phe)	Inborn genetic diseases [RCV004463007]	uncertain significance	11	130189779	130189779	Human	1	name
405720068	CV3323408	single nucleotide variant	NM_021978.4(ST14):c.504G>C (p.Glu168Asp)	Inborn genetic diseases [RCV004463009]	likely benign	11	130189802	130189802	Human	1	name
405720081	CV3323410	single nucleotide variant	NM_021978.4(ST14):c.530G>A (p.Arg177His)	Inborn genetic diseases [RCV004463011]	uncertain significance	11	130189828	130189828	Human	1	name
405720087	CV3323411	single nucleotide variant	NM_021978.4(ST14):c.662G>T (p.Arg221Leu)	Inborn genetic diseases [RCV004463012]	uncertain significance	11	130190481	130190481	Human	1	name
407517181	CV3475050	single nucleotide variant	NM_021978.4(ST14):c.781C>T (p.Arg261Cys)	Inborn genetic diseases [RCV004675557]	uncertain significance	11	130190600	130190600	Human	1	name
407526167	CV3475053	single nucleotide variant	NM_021978.4(ST14):c.326A>G (p.Asn109Ser)	Inborn genetic diseases [RCV004679552]	likely benign	11	130188614	130188614	Human	1	name
407517188	CV3475054	single nucleotide variant	NM_021978.4(ST14):c.913T>C (p.Phe305Leu)	Inborn genetic diseases [RCV004675559]	uncertain significance	11	130194186	130194186	Human	1	name
407517199	CV3475059	single nucleotide variant	NM_021978.4(ST14):c.368C>T (p.Ala123Val)	Inborn genetic diseases [RCV004675563]	uncertain significance	11	130188656	130188656	Human	1	name
596925883	CV3530613	single nucleotide variant	NM_021978.4(ST14):c.976G>A (p.Gly326Ser)	not provided [RCV004778198]	uncertain significance	11	130194249	130194249	Human		name
597633061	CV3608546	single nucleotide variant	NM_021978.4(ST14):c.830C>T (p.Thr277Met)	Inborn genetic diseases [RCV004968995]	likely benign	11	130190649	130190649	Human	1	name
597633077	CV3608551	single nucleotide variant	NM_021978.4(ST14):c.604G>C (p.Asp202His)	Inborn genetic diseases [RCV004969000]	uncertain significance	11	130190118	130190118	Human	1	name
597633080	CV3608552	single nucleotide variant	NM_021978.4(ST14):c.530G>T (p.Arg177Leu)	Inborn genetic diseases [RCV004969001]	uncertain significance	11	130189828	130189828	Human	1	name
597633083	CV3608553	single nucleotide variant	NM_021978.4(ST14):c.366C>A (p.Asp122Glu)	Inborn genetic diseases [RCV004969002]	likely benign	11	130188654	130188654	Human	1	name
597941720	CV3837147	single nucleotide variant	NM_021978.4(ST14):c.757G>A (p.Asp253Asn)	not provided [RCV005187978]	uncertain significance	11	130190576	130190576	Human		name
598175335	CV3923045	single nucleotide variant	NM_021978.4(ST14):c.977G>A (p.Gly326Asp)	Inborn genetic diseases [RCV005285472]	uncertain significance	11	130194250	130194250	Human	1	name
598175355	CV3923049	single nucleotide variant	NM_021978.4(ST14):c.805G>A (p.Asp269Asn)	Inborn genetic diseases [RCV005285476]	uncertain significance	11	130190624	130190624	Human	1	name
598214025	CV3923055	single nucleotide variant	NM_021978.4(ST14):c.803G>A (p.Cys268Tyr)	Inborn genetic diseases [RCV005271063]	uncertain significance	11	130190622	130190622	Human	1	name
598175398	CV3923058	single nucleotide variant	NM_021978.4(ST14):c.859C>T (p.Pro287Ser)	Inborn genetic diseases [RCV005285484]	uncertain significance	11	130190678	130190678	Human	1	name
13504515	CV444753	single nucleotide variant	NM_021978.4(ST14):c.893C>A (p.Pro298His)	not provided [RCV000520395]	uncertain significance	11	130194166	130194166	Human		name
14696146	CV612404	single nucleotide variant	NM_021978.4(ST14):c.557G>A (p.Arg186His)	High myopia [RCV000785692]	uncertain significance	11	130189855	130189855	Human	2	name
15185413	CV701665	single nucleotide variant	NM_021978.4(ST14):c.508G>A (p.Glu170Lys)	not provided [RCV000952974]	likely benign\|conflicting interpretations of pathogenicity	11	130189806	130189806	Human		name
15138828	CV712720	single nucleotide variant	NM_021978.4(ST14):c.454A>G (p.Ile152Val)	not provided [RCV000965859]	benign	11	130189752	130189752	Human		name
15173289	CV737866	single nucleotide variant	NM_021978.4(ST14):c.512G>A (p.Arg171His)	ST14-related disorder [RCV003910825]\|not provided [RCV000905833]	benign\|likely benign	11	130189810	130189810	Human	1	name , trait , alternate_id
15109694	CV752554	single nucleotide variant	NM_021978.4(ST14):c.550C>T (p.Arg184Trp)	ST14-related disorder [RCV003933053]\|not provided [RCV000916386]	benign\|conflicting interpretations of pathogenicity	11	130189848	130189848	Human	1	name , trait , alternate_id
25321045	CV805678	duplication	NM_021978.4(ST14):c.1365dup (p.Gln456fs)	not provided [RCV001009323]	likely pathogenic	11	130197847	130197848	Human		name
150469011	CV1207501	single nucleotide variant	NM_021978.4(ST14):c.1753C>G (p.Pro585Ala)	not provided [RCV001588190]	uncertain significance	11	130199015	130199015	Human		name
150482149	CV1244229	single nucleotide variant	NM_021978.4(ST14):c.1444G>A (p.Asp482Asn)	not provided [RCV001653076]	uncertain significance	11	130197930	130197930	Human		name
150555414	CV1297877	single nucleotide variant	NM_021978.4(ST14):c.2229G>T (p.Lys743Asn)	Inborn genetic diseases [RCV003163847]\|not provided [RCV001772785]	uncertain significance	11	130208644	130208644	Human	1	name
150555415	CV1297878	single nucleotide variant	NM_021978.4(ST14):c.2224G>C (p.Gly742Arg)	not provided [RCV001772786]	uncertain significance	11	130208639	130208639	Human		name
152071753	CV1544461	single nucleotide variant	NM_021978.4(ST14):c.1141C>A (p.Arg381Ser)	not provided [RCV002129703]	benign	11	130196366	130196366	Human		name
153301968	CV1689387	single nucleotide variant	NM_021978.4(ST14):c.1027C>T (p.Arg343Cys)	not provided [RCV002267337]	uncertain significance	11	130194651	130194651	Human		name
155937209	CV1867508	single nucleotide variant	NM_021978.4(ST14):c.1255A>G (p.Thr419Ala)	Inborn genetic diseases [RCV002571572]\|not provided [RCV002509980]	uncertain significance	11	130196601	130196601	Human	1	name
8596270	CV19077	single nucleotide variant	NM_021978.4(ST14):c.2479G>A (p.Gly827Arg)	Autosomal recessive congenital ichthyosis 11 [RCV000004253]	pathogenic	11	130209734	130209734	Human	1	name
155943988	CV1916584	single nucleotide variant	NM_021978.4(ST14):c.1346C>T (p.Ser449Phe)	Inborn genetic diseases [RCV002574744]\|not provided [RCV002511248]	uncertain significance	11	130196692	130196692	Human	1	name
156174719	CV1956499	single nucleotide variant	NM_021978.4(ST14):c.1669G>A (p.Ala557Thr)	not provided [RCV002573921]	uncertain significance	11	130198606	130198606	Human		name
156377041	CV1956760	single nucleotide variant	NM_021978.4(ST14):c.1924G>A (p.Gly642Ser)	not provided [RCV002582888]	uncertain significance	11	130200067	130200067	Human		name
156077362	CV1985785	single nucleotide variant	NM_021978.4(ST14):c.1569C>A (p.Cys523Ter)	not provided [RCV002638784]	pathogenic	11	130198417	130198417	Human		name
156405704	CV1994532	single nucleotide variant	NM_021978.4(ST14):c.2294A>G (p.Lys765Arg)	not provided [RCV002658374]	uncertain significance	11	130209466	130209466	Human		name
156301660	CV2079518	single nucleotide variant	NM_021978.4(ST14):c.2106C>A (p.Phe702Leu)	not provided [RCV002857201]	uncertain significance	11	130208521	130208521	Human		name
156305929	CV2105256	single nucleotide variant	NM_021978.4(ST14):c.1770G>C (p.Lys590Asn)	Inborn genetic diseases [RCV004067015]\|not provided [RCV002922818]	likely benign\|uncertain significance	11	130199032	130199032	Human	1	name
156209104	CV2110425	single nucleotide variant	NM_021978.4(ST14):c.1856C>T (p.Thr619Met)	ST14-related disorder [RCV003906364]\|not provided [RCV002957669]	benign\|likely benign	11	130199999	130199999	Human	1	name , trait , alternate_id
156186939	CV2195716	single nucleotide variant	NM_021978.4(ST14):c.1141C>T (p.Arg381Cys)	Inborn genetic diseases [RCV002665650]	uncertain significance	11	130196366	130196366	Human	1	name
156028504	CV2195814	single nucleotide variant	NM_021978.4(ST14):c.1309G>A (p.Asp437Asn)	Inborn genetic diseases [RCV002691394]	uncertain significance	11	130196655	130196655	Human	1	name
156237100	CV2224184	single nucleotide variant	NM_021978.4(ST14):c.1236G>C (p.Glu412Asp)	Inborn genetic diseases [RCV002713138]	uncertain significance	11	130196582	130196582	Human	1	name
156234047	CV2245315	single nucleotide variant	NM_021978.4(ST14):c.1871G>A (p.Gly624Asp)	Inborn genetic diseases [RCV002767843]	uncertain significance	11	130200014	130200014	Human	1	name
155902185	CV2274640	single nucleotide variant	NM_021978.4(ST14):c.1282C>T (p.Arg428Cys)	Inborn genetic diseases [RCV002836666]	uncertain significance	11	130196628	130196628	Human	1	name
156275535	CV2290646	single nucleotide variant	NM_021978.4(ST14):c.1007G>A (p.Arg336Lys)	Inborn genetic diseases [RCV002896183]	likely benign	11	130194280	130194280	Human	1	name
156109327	CV2313991	single nucleotide variant	NM_021978.4(ST14):c.2231C>T (p.Ala744Val)	Inborn genetic diseases [RCV002889120]	uncertain significance	11	130208646	130208646	Human	1	name
156283953	CV2334720	single nucleotide variant	NM_021978.4(ST14):c.2219C>G (p.Pro740Arg)	Inborn genetic diseases [RCV002961129]	uncertain significance	11	130208634	130208634	Human	1	name
156390527	CV2373486	single nucleotide variant	NM_021978.4(ST14):c.2262G>C (p.Gln754His)	Inborn genetic diseases [RCV002724624]	uncertain significance	11	130208677	130208677	Human	1	name
156042293	CV2381444	single nucleotide variant	NM_021978.4(ST14):c.1204G>A (p.Val402Met)	Inborn genetic diseases [RCV002704438]	uncertain significance	11	130196429	130196429	Human	1	name
155968124	CV2391424	single nucleotide variant	NM_021978.4(ST14):c.1174G>A (p.Val392Met)	Inborn genetic diseases [RCV002754639]	uncertain significance	11	130196399	130196399	Human	1	name
329368065	CV2427679	single nucleotide variant	NM_021978.4(ST14):c.1975A>G (p.Ile659Val)	Inborn genetic diseases [RCV003183497]\|not provided [RCV003561211]	likely benign	11	130200118	130200118	Human	1	name
329349861	CV2477215	single nucleotide variant	NM_021978.4(ST14):c.1577C>T (p.Pro526Leu)	not provided [RCV003221540]	uncertain significance	11	130198514	130198514	Human		name
401764659	CV2728021	single nucleotide variant	NM_021978.4(ST14):c.1379G>A (p.Arg460His)	Inborn genetic diseases [RCV003300977]	uncertain significance	11	130197865	130197865	Human	1	name
401796726	CV2739707	single nucleotide variant	NM_021978.4(ST14):c.1433C>T (p.Thr478Ile)	Inborn genetic diseases [RCV004333289]\|not provided [RCV003319668]	uncertain significance	11	130197919	130197919	Human	1	name
401893629	CV2765379	single nucleotide variant	NM_021978.4(ST14):c.1252G>A (p.Val418Ile)	Inborn genetic diseases [RCV003356322]	uncertain significance	11	130196598	130196598	Human	1	name
401892980	CV2791879	single nucleotide variant	NM_021978.4(ST14):c.1085C>A (p.Pro362His)	Inborn genetic diseases [RCV003370400]	uncertain significance	11	130194709	130194709	Human	1	name
405202190	CV2918838	single nucleotide variant	NM_021978.4(ST14):c.1727A>G (p.Asn576Ser)	not provided [RCV003566055]	likely benign	11	130198989	130198989	Human		name
405091754	CV3054624	single nucleotide variant	NM_021978.4(ST14):c.1718G>A (p.Arg573His)	not provided [RCV003717868]	benign	11	130198980	130198980	Human		name
405720034	CV3323403	single nucleotide variant	NM_021978.4(ST14):c.1829C>T (p.Thr610Met)	Inborn genetic diseases [RCV004463004]	uncertain significance	11	130199972	130199972	Human	1	name
405720043	CV3323404	single nucleotide variant	NM_021978.4(ST14):c.2164G>C (p.Glu722Gln)	Inborn genetic diseases [RCV004463005]	uncertain significance	11	130208579	130208579	Human	1	name
405720049	CV3323405	single nucleotide variant	NM_021978.4(ST14):c.2553G>C (p.Glu851Asp)	Inborn genetic diseases [RCV004463006]	uncertain significance	11	130209808	130209808	Human	1	name
407517176	CV3475048	single nucleotide variant	NM_021978.4(ST14):c.2036A>G (p.His679Arg)	Inborn genetic diseases [RCV004675555]	uncertain significance	11	130208451	130208451	Human	1	name
407517179	CV3475049	single nucleotide variant	NM_021978.4(ST14):c.1397G>A (p.Arg466Gln)	Inborn genetic diseases [RCV004675556]	uncertain significance	11	130197883	130197883	Human	1	name
407526165	CV3475051	single nucleotide variant	NM_021978.4(ST14):c.1363G>A (p.Gly455Arg)	Inborn genetic diseases [RCV004679551]	uncertain significance	11	130197849	130197849	Human	1	name
407517184	CV3475052	single nucleotide variant	NM_021978.4(ST14):c.1819C>T (p.Arg607Trp)	Inborn genetic diseases [RCV004675558]	uncertain significance	11	130199962	130199962	Human	1	name
407517193	CV3475057	single nucleotide variant	NM_021978.4(ST14):c.2346G>T (p.Gln782His)	Inborn genetic diseases [RCV004675561]	uncertain significance	11	130209518	130209518	Human	1	name
407517195	CV3475058	single nucleotide variant	NM_021978.4(ST14):c.1371C>A (p.Phe457Leu)	Inborn genetic diseases [RCV004675562]	uncertain significance	11	130197857	130197857	Human	1	name
597633064	CV3608547	single nucleotide variant	NM_021978.4(ST14):c.1657G>A (p.Gly553Arg)	Inborn genetic diseases [RCV004968996]	uncertain significance	11	130198594	130198594	Human	1	name
597633069	CV3608548	single nucleotide variant	NM_021978.4(ST14):c.1034G>T (p.Arg345Leu)	Inborn genetic diseases [RCV004968997]	uncertain significance	11	130194658	130194658	Human	1	name
597633070	CV3608549	single nucleotide variant	NM_021978.4(ST14):c.2062G>A (p.Gly688Arg)	Inborn genetic diseases [RCV004968998]	uncertain significance	11	130208477	130208477	Human	1	name
597633074	CV3608550	single nucleotide variant	NM_021978.4(ST14):c.1039G>T (p.Ala347Ser)	Inborn genetic diseases [RCV004968999]	uncertain significance	11	130194663	130194663	Human	1	name
597633087	CV3608554	single nucleotide variant	NM_021978.4(ST14):c.2494C>A (p.Gln832Lys)	Inborn genetic diseases [RCV004969003]	uncertain significance	11	130209749	130209749	Human	1	name
597920299	CV3765099	single nucleotide variant	NM_021978.4(ST14):c.2362A>G (p.Met788Val)	not provided [RCV005115116]	uncertain significance	11	130209534	130209534	Human		name
597925124	CV3808732	single nucleotide variant	NM_021978.4(ST14):c.2380C>T (p.Leu794Phe)	not provided [RCV005156246]	uncertain significance	11	130209552	130209552	Human		name
598175340	CV3923046	single nucleotide variant	NM_021978.4(ST14):c.1013G>A (p.Ser338Asn)	Inborn genetic diseases [RCV005285473]	uncertain significance	11	130194286	130194286	Human	1	name
598175345	CV3923047	single nucleotide variant	NM_021978.4(ST14):c.1014C>A (p.Ser338Arg)	Inborn genetic diseases [RCV005285474]	uncertain significance	11	130194287	130194287	Human	1	name
598175360	CV3923050	single nucleotide variant	NM_021978.4(ST14):c.1022G>A (p.Gly341Glu)	Inborn genetic diseases [RCV005285477]	uncertain significance	11	130194646	130194646	Human	1	name
598175372	CV3923052	single nucleotide variant	NM_021978.4(ST14):c.1471G>A (p.Gly491Ser)	Inborn genetic diseases [RCV005285479]	likely benign	11	130198319	130198319	Human	1	name
598175379	CV3923053	single nucleotide variant	NM_021978.4(ST14):c.2357C>A (p.Pro786Gln)	Inborn genetic diseases [RCV005285480]	uncertain significance	11	130209529	130209529	Human	1	name
598175384	CV3923054	single nucleotide variant	NM_021978.4(ST14):c.1642G>A (p.Asp548Asn)	Inborn genetic diseases [RCV005285481]	uncertain significance	11	130198579	130198579	Human	1	name
598175392	CV3923057	single nucleotide variant	NM_021978.4(ST14):c.2059C>T (p.Pro687Ser)	Inborn genetic diseases [RCV005285483]	likely benign	11	130208474	130208474	Human	1	name
15175029	CV712721	single nucleotide variant	NM_021978.4(ST14):c.1048A>G (p.Thr350Ala)	not provided [RCV000972848]	benign	11	130194672	130194672	Human		name
15117593	CV712723	single nucleotide variant	NM_021978.4(ST14):c.1729G>A (p.Gly577Arg)	ST14-related disorder [RCV003978389]\|not provided [RCV000962231]	benign	11	130198991	130198991	Human	1	name , trait , alternate_id
15179121	CV724313	single nucleotide variant	NM_021978.4(ST14):c.2357C>T (p.Pro786Leu)	not provided [RCV000885219]	benign	11	130209529	130209529	Human		name
15177838	CV737868	single nucleotide variant	NM_021978.4(ST14):c.1034G>A (p.Arg345His)	not provided [RCV000906741]	benign	11	130194658	130194658	Human		name
15198820	CV752557	single nucleotide variant	NM_021978.4(ST14):c.1408C>T (p.Arg470Cys)	not provided [RCV000912366]	likely benign	11	130197894	130197894	Human		name
28881007	CV859848	single nucleotide variant	NM_021978.4(ST14):c.1627C>G (p.Gln543Glu)	not provided [RCV001092305]	uncertain significance	11	130198564	130198564	Human		name
8633939	CV89155	single nucleotide variant	NM_021978.3(ST14):c.1648T>A (p.Cys550Ser)	Malignant melanoma [RCV000069252]	not provided	11	130198585	130198585	Human		name
40816048	CV967125	single nucleotide variant	NM_021978.4(ST14):c.1315G>A (p.Gly439Ser)	Autosomal recessive congenital ichthyosis 11 [RCV001257918]	likely pathogenic	11	130196661	130196661	Human	1	name
150462266	CV1253348	insertion	NM_021978.4(ST14):c.1113+114_1113+115insGT	not provided [RCV001669677]	benign	11	130194851	130194852	Human		name
407502042	CV3495645	duplication	NM_021978.4(ST14):c.2519_2538dup (p.Asp847fs)	not provided [RCV004697485]	likely pathogenic	11	130209773	130209774	Human		name

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