Sfxn4 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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178 records found for search term Sfxn4

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405268050	CV3219578	single nucleotide variant	NM_213649.2(SFXN4):c.-5G>A	SFXN4-related disorder [RCV003969784]	likely benign	10	119165652	119165652	Human		name , trait , alternate_id
405265933	CV3220927	single nucleotide variant	NM_213649.2(SFXN4):c.*3G>A	SFXN4-related disorder [RCV003969085]	benign	10	119141239	119141239	Human		name , trait , alternate_id
12840821	CV373307	single nucleotide variant	NM_213649.2(SFXN4):c.-31T>A	not specified [RCV000431435]	likely benign	10	119165678	119165678	Human		name
13526740	CV503134	single nucleotide variant	NM_213649.2(SFXN4):c.-31T>G	not specified [RCV000604543]	likely benign	10	119165678	119165678	Human		name
13541125	CV503281	single nucleotide variant	NM_213649.2(SFXN4):c.-21G>T	not specified [RCV000615709]	likely benign	10	119165668	119165668	Human		name
150407761	CV1177252	single nucleotide variant	NM_213649.2(SFXN4):c.*256G>A	not provided [RCV001545682]	likely benign	10	119140986	119140986	Human		name
150414807	CV1177253	single nucleotide variant	NM_213649.2(SFXN4):c.*145C>T	not provided [RCV001548298]	likely benign	10	119141097	119141097	Human		name
150421228	CV1180642	single nucleotide variant	NM_213649.2(SFXN4):c.*205G>A	not provided [RCV001551916]	likely benign	10	119141037	119141037	Human		name
150425246	CV1184320	single nucleotide variant	NM_213649.2(SFXN4):c.*271A>G	not provided [RCV001557755]	likely benign	10	119140971	119140971	Human		name
150426440	CV1187551	single nucleotide variant	NM_213649.2(SFXN4):c.*272C>A	not provided [RCV001559586]	likely benign	10	119140970	119140970	Human		name
150510861	CV1229276	single nucleotide variant	NM_213649.2(SFXN4):c.*129G>A	not provided [RCV001637204]	benign	10	119141113	119141113	Human		name
14746031	CV664059	single nucleotide variant	NM_213649.1(SFXN4):c.-274C>G	not provided [RCV000844007]	benign	10	119165921	119165921	Human		name
156417372	CV1909632	single nucleotide variant	NM_213649.2(SFXN4):c.818+2T>A	not provided [RCV002610682]	likely pathogenic	10	119147773	119147773	Human		name
156415060	CV1965002	single nucleotide variant	NM_213649.2(SFXN4):c.733-4C>G	not provided [RCV002588954]	likely benign	10	119147864	119147864	Human		name
155963759	CV2134634	single nucleotide variant	NM_213649.2(SFXN4):c.819-1G>C	not provided [RCV002972508]	likely pathogenic	10	119146354	119146354	Human		name
329952685	CV2670022	single nucleotide variant	NM_213649.2(SFXN4):c.818+4A>G	not provided [RCV003233235]	uncertain significance	10	119147771	119147771	Human		name
405117632	CV2961757	single nucleotide variant	NM_213649.2(SFXN4):c.538-4C>T	not provided [RCV003671068]	likely benign	10	119156760	119156760	Human		name
405282742	CV3218351	single nucleotide variant	NM_213649.2(SFXN4):c.617-9C>T	SFXN4-related disorder [RCV003957164]	likely benign	10	119155186	119155186	Human		name , trait , alternate_id
12847069	CV371163	single nucleotide variant	NM_213649.2(SFXN4):c.617-3C>T	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV001807249]\|not provided [RCV000676423]\|not specified [RCV000442829]	benign	10	119155180	119155180	Human	1	name
12842950	CV371170	single nucleotide variant	NM_213649.2(SFXN4):c.415-6C>T	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV001807248]\|not provided [RCV000676424]\|not specified [RCV000435341]	benign	10	119157933	119157933	Human	1	name
12840674	CV373300	single nucleotide variant	NM_213649.2(SFXN4):c.415-9T>C	not specified [RCV000431167]	likely benign	10	119157936	119157936	Human		name
597880411	CV3857298	single nucleotide variant	NM_213649.2(SFXN4):c.819-7C>T	not provided [RCV005198905]	likely benign	10	119146360	119146360	Human		name
598125866	CV3883320	single nucleotide variant	NM_213649.2(SFXN4):c.361-2A>T	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV005233191]	likely pathogenic	10	119158064	119158064	Human	1	name
13508811	CV481461	single nucleotide variant	NM_213649.2(SFXN4):c.414+1G>A	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV000578299]	pathogenic	10	119158008	119158008	Human	1	name
13539627	CV503126	single nucleotide variant	NM_213649.2(SFXN4):c.360+6C>G	not provided [RCV000909380]	benign\|likely benign	10	119159722	119159722	Human		name
15182598	CV730671	single nucleotide variant	NM_213649.2(SFXN4):c.937-9A>G	not provided [RCV000886028]	likely benign	10	119141328	119141328	Human		name
15104767	CV759880	single nucleotide variant	NM_213649.2(SFXN4):c.617-4A>G	SFXN4-related disorder [RCV003958375]\|not provided [RCV000915413]	benign\|likely benign	10	119155181	119155181	Human	1	name , trait , alternate_id
15109712	CV787576	single nucleotide variant	NM_213649.2(SFXN4):c.936+8C>T	not provided [RCV000977292]	likely benign	10	119146228	119146228	Human		name
8639123	CV97531	single nucleotide variant	NM_213649.2(SFXN4):c.471+1G>A	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV000077776]\|not provided [RCV002514365]	pathogenic\|likely pathogenic	10	119157870	119157870	Human	1	name
150420886	CV1194300	single nucleotide variant	NM_213649.2(SFXN4):c.252+91T>C	not provided [RCV001570313]	likely benign	10	119162249	119162249	Human		name
150421352	CV1198004	single nucleotide variant	NM_213649.2(SFXN4):c.617-34G>A	not provided [RCV001578001]	likely benign	10	119155211	119155211	Human		name
150439661	CV1201580	single nucleotide variant	NM_213649.2(SFXN4):c.360+59C>A	not provided [RCV001583392]	likely benign	10	119159669	119159669	Human		name
150442174	CV1204664	single nucleotide variant	NM_213649.2(SFXN4):c.415-32C>T	not provided [RCV001583771]	likely benign	10	119157959	119157959	Human		name
150467980	CV1207185	single nucleotide variant	NM_213649.2(SFXN4):c.334+95C>T	not provided [RCV001587977]	likely benign	10	119160820	119160820	Human		name
150516292	CV1228298	duplication	NM_213649.2(SFXN4):c.112-87dup	not provided [RCV001639104]	benign	10	119164268	119164269	Human		name
150486804	CV1237229	single nucleotide variant	NM_213649.2(SFXN4):c.360+61C>T	not provided [RCV001654077]	benign	10	119159667	119159667	Human		name
150463760	CV1237678	single nucleotide variant	NM_213649.2(SFXN4):c.178-91A>G	not provided [RCV001649684]	benign	10	119162505	119162505	Human		name
150507253	CV1256887	single nucleotide variant	NM_213649.2(SFXN4):c.472-24T>A	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV001807498]\|not provided [RCV001678390]	benign	10	119157757	119157757	Human	1	name
150498257	CV1281891	single nucleotide variant	NM_213649.2(SFXN4):c.361-42C>T	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV001807524]\|not provided [RCV001717988]	benign	10	119158104	119158104	Human	1	name
150478400	CV1281941	single nucleotide variant	NM_213649.2(SFXN4):c.818+84G>A	not provided [RCV001714289]	benign	10	119147691	119147691	Human		name
152100022	CV1664058	single nucleotide variant	NM_213649.2(SFXN4):c.280-19T>G	not provided [RCV002078865]	likely benign	10	119160988	119160988	Human		name
156336927	CV1963992	single nucleotide variant	NM_213649.2(SFXN4):c.818+12G>A	not provided [RCV002580293]	likely benign	10	119147763	119147763	Human		name
156411337	CV1976241	single nucleotide variant	NM_213649.2(SFXN4):c.936+12C>G	not provided [RCV002587458]	likely benign	10	119146224	119146224	Human		name
405070208	CV3031065	single nucleotide variant	NM_213649.2(SFXN4):c.937-15T>G	not provided [RCV003698220]	likely benign	10	119141334	119141334	Human		name
405002067	CV3120601	single nucleotide variant	NM_213649.2(SFXN4):c.732+13A>T	not provided [RCV003828203]	likely benign	10	119155049	119155049	Human		name
405106969	CV3136144	single nucleotide variant	NM_213649.2(SFXN4):c.252+18A>G	not provided [RCV003835490]	likely benign	10	119162322	119162322	Human		name
405170460	CV3149947	single nucleotide variant	NM_213649.2(SFXN4):c.252+11C>T	not provided [RCV003841418]	likely benign	10	119162329	119162329	Human		name
405177503	CV3152381	single nucleotide variant	NM_213649.2(SFXN4):c.361-11C>T	not provided [RCV003858336]	likely benign	10	119158073	119158073	Human		name
405234872	CV3155606	single nucleotide variant	NM_213649.2(SFXN4):c.178-12A>G	not provided [RCV003853584]	likely benign	10	119162426	119162426	Human		name
12834141	CV371172	single nucleotide variant	NM_213649.2(SFXN4):c.415-14G>T	not specified [RCV000419834]	likely benign	10	119157941	119157941	Human		name
13592672	CV502749	microsatellite	NM_213649.2(SFXN4):c.-50TCC[2]	not specified [RCV000606817]	likely benign	10	119165689	119165691	Human		name
14736508	CV664053	single nucleotide variant	NM_213649.2(SFXN4):c.538-51C>T	not provided [RCV000838503]	likely benign	10	119156807	119156807	Human		name
14741798	CV664601	single nucleotide variant	NM_213649.2(SFXN4):c.733-50G>T	not provided [RCV000840952]	likely benign	10	119147910	119147910	Human		name
150340281	CV1168198	single nucleotide variant	NM_213649.2(SFXN4):c.819-123G>A	not provided [RCV001535194]	likely benign	10	119146476	119146476	Human		name
150331824	CV1169372	single nucleotide variant	NM_213649.2(SFXN4):c.616+229A>G	not provided [RCV001536641]	likely benign	10	119156449	119156449	Human		name
150404967	CV1177254	single nucleotide variant	NM_213649.2(SFXN4):c.361-273A>T	not provided [RCV001544651]	likely benign	10	119158335	119158335	Human		name
150421867	CV1180643	single nucleotide variant	NM_213649.2(SFXN4):c.537+136T>C	not provided [RCV001552211]	likely benign	10	119157532	119157532	Human		name
150421813	CV1198005	single nucleotide variant	NM_213649.2(SFXN4):c.616+254C>T	not provided [RCV001578190]	likely benign	10	119156424	119156424	Human		name
150508018	CV1213919	single nucleotide variant	NM_213649.2(SFXN4):c.360+261A>T	not provided [RCV001596440]	likely benign	10	119159467	119159467	Human		name
150515253	CV1217431	duplication	NM_213649.2(SFXN4):c.937-209dup	not provided [RCV001608336]	benign	10	119141507	119141508	Human		name
150490738	CV1239166	duplication	NM_213649.2(SFXN4):c.818+111dup	not provided [RCV001654734]	benign	10	119147661	119147662	Human		name
150509368	CV1247289	single nucleotide variant	NM_213649.2(SFXN4):c.819-105A>G	not provided [RCV001659316]	benign	10	119146458	119146458	Human		name
150439331	CV1247705	deletion	NM_213649.2(SFXN4):c.937-189del	not provided [RCV001666072]	benign	10	119141508	119141508	Human		name
150490914	CV1251105	single nucleotide variant	NM_213649.2(SFXN4):c.819-110T>C	not provided [RCV001674773]	benign	10	119146463	119146463	Human		name
150500464	CV1256103	single nucleotide variant	NM_213649.2(SFXN4):c.178-149A>G	not provided [RCV001676727]	benign	10	119162563	119162563	Human		name
150507720	CV1257208	deletion	NM_213649.2(SFXN4):c.937-146del	not provided [RCV001678507]	benign	10	119141465	119141465	Human		name
150441105	CV1265507	deletion	NM_213649.2(SFXN4):c.537+237del	not provided [RCV001679210]	benign	10	119157431	119157431	Human		name
150498459	CV1282045	single nucleotide variant	NM_213649.2(SFXN4):c.819-107A>G	not provided [RCV001718023]	benign	10	119146460	119146460	Human		name
14746040	CV664050	single nucleotide variant	NM_213649.2(SFXN4):c.819-325G>A	not provided [RCV000844017]	benign	10	119146678	119146678	Human		name
14719425	CV664052	single nucleotide variant	NM_213649.2(SFXN4):c.616+288G>A	not provided [RCV000830769]	likely benign	10	119156390	119156390	Human		name
14746035	CV664055	single nucleotide variant	NM_213649.2(SFXN4):c.361-284A>G	not provided [RCV000844011]	benign	10	119158346	119158346	Human		name
14746042	CV664598	single nucleotide variant	NM_213649.2(SFXN4):c.936+326A>G	not provided [RCV000844019]	benign	10	119145910	119145910	Human		name
14746038	CV664599	single nucleotide variant	NM_213649.2(SFXN4):c.818+244G>C	not provided [RCV000844015]	benign	10	119147531	119147531	Human		name
14723402	CV664602	single nucleotide variant	NM_213649.2(SFXN4):c.732+251G>A	not provided [RCV000832518]	benign	10	119154811	119154811	Human		name
14705614	CV664603	single nucleotide variant	NM_213649.2(SFXN4):c.733-243G>A	not provided [RCV000826250]	benign	10	119148103	119148103	Human		name
14723223	CV664604	single nucleotide variant	NM_213649.2(SFXN4):c.538-164G>A	not provided [RCV000832435]	benign	10	119156920	119156920	Human		name
14710223	CV664606	deletion	NM_213649.2(SFXN4):c.732+159del	not provided [RCV000844013]	benign	10	119154903	119154903	Human		name
14705610	CV664608	single nucleotide variant	NM_213649.2(SFXN4):c.617-301A>G	not provided [RCV000826249]	benign	10	119155478	119155478	Human		name
14723399	CV664609	single nucleotide variant	NM_213649.2(SFXN4):c.178-241G>C	not provided [RCV000832517]	likely benign	10	119162655	119162655	Human		name
14746036	CV664615	single nucleotide variant	NM_213649.2(SFXN4):c.538-271A>G	not provided [RCV000844012]	benign	10	119157027	119157027	Human		name
14705605	CV664617	single nucleotide variant	NM_213649.2(SFXN4):c.334+303C>T	not provided [RCV000826246]	benign	10	119160612	119160612	Human		name
14719422	CV664620	single nucleotide variant	NM_213649.2(SFXN4):c.252+229C>A	not provided [RCV000830768]	likely benign	10	119162111	119162111	Human		name
14746032	CV664622	single nucleotide variant	NM_213649.2(SFXN4):c.111+175C>G	not provided [RCV000844008]	benign	10	119165362	119165362	Human		name
14746037	CV664877	single nucleotide variant	NM_213649.2(SFXN4):c.818+169C>T	not provided [RCV000844014]	benign	10	119147606	119147606	Human		name
14705607	CV664883	single nucleotide variant	NM_213649.2(SFXN4):c.538-199T>C	not provided [RCV000826248]	benign	10	119156955	119156955	Human		name
14746033	CV664888	single nucleotide variant	NM_213649.2(SFXN4):c.360+290G>A	not provided [RCV000844009]	benign	10	119159438	119159438	Human		name
14705601	CV664892	single nucleotide variant	NM_213649.2(SFXN4):c.253-297A>T	not provided [RCV000826245]	benign	10	119161378	119161378	Human		name
150461980	CV1214580	microsatellite	NM_213649.2(SFXN4):c.819-121AC[6]	not provided [RCV001613573]	benign	10	119146464	119146465	Human		name
150474312	CV1217780	microsatellite	NM_213649.2(SFXN4):c.819-107AC[15]	not provided [RCV001615791]	benign	10	119146429	119146430	Human		name
150481388	CV1222155	microsatellite	NM_213649.2(SFXN4):c.819-107AC[13]	not provided [RCV001616953]	benign	10	119146429	119146434	Human		name
150500689	CV1238228	microsatellite	NM_213649.2(SFXN4):c.819-107AC[14]	not provided [RCV001656658]	benign	10	119146429	119146432	Human		name
150460738	CV1275864	microsatellite	NM_213649.2(SFXN4):c.819-107AC[12]	not provided [RCV001709802]	benign	10	119146429	119146436	Human		name
150446034	CV1278252	microsatellite	NM_213649.2(SFXN4):c.819-107AC[18]	not provided [RCV001707395]	benign	10	119146428	119146429	Human		name
150478394	CV1281940	microsatellite	NM_213649.2(SFXN4):c.819-107AC[17]	not provided [RCV001714288]	benign	10	119146428	119146429	Human		name
12835381	CV373306	single nucleotide variant	NM_213649.2(SFXN4):c.7C>T (p.Leu3=)	not provided [RCV000970409]\|not specified [RCV000421565]	benign	10	119165641	119165641	Human		name
13527168	CV503576	single nucleotide variant	NM_213649.2(SFXN4):c.18G>A (p.Glu6=)	not provided [RCV000891271]	benign\|likely benign	10	119165630	119165630	Human		name
150492591	CV1238508	duplication	NM_213649.2(SFXN4):c.112-87_112-84dup	not provided [RCV001655052]	benign	10	119164268	119164269	Human		name
150491229	CV1267742	duplication	NM_213649.2(SFXN4):c.112-87_112-85dup	not provided [RCV001687767]	benign	10	119164268	119164269	Human		name
150478214	CV1281886	duplication	NM_213649.2(SFXN4):c.112-87_112-86dup	not provided [RCV001714258]	benign	10	119164268	119164269	Human		name
156058266	CV1974673	single nucleotide variant	NM_213649.2(SFXN4):c.63C>T (p.Val21=)	not provided [RCV002590887]	likely benign	10	119165585	119165585	Human		name
13536587	CV503571	single nucleotide variant	NM_213649.2(SFXN4):c.51C>T (p.Arg17=)	not specified [RCV000609215]	likely benign	10	119165597	119165597	Human		name
15105455	CV712191	variation	NM_213649.2(SFXN4):c.354= (p.Ala118=)	not provided [RCV000959890]	benign	10	119159734	119159734	Human		name
15167816	CV751985	single nucleotide variant	NM_213649.2(SFXN4):c.57C>T (p.Asp19=)	not provided [RCV000927166]	likely benign	10	119165591	119165591	Human		name
156304015	CV1916285	single nucleotide variant	NM_213649.2(SFXN4):c.141A>C (p.Thr47=)	not provided [RCV002599310]	likely benign	10	119164167	119164167	Human		name
156402214	CV2368181	single nucleotide variant	NM_213649.2(SFXN4):c.26C>T (p.Thr9Met)	Inborn genetic diseases [RCV002657337]	likely benign	10	119165622	119165622	Human	1	name
405219180	CV2869984	single nucleotide variant	NM_213649.2(SFXN4):c.243G>A (p.Ala81=)	not provided [RCV003553608]	likely benign	10	119162349	119162349	Human		name
12837439	CV371173	single nucleotide variant	NM_213649.2(SFXN4):c.258A>G (p.Gln86=)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV001807247]\|not provided [RCV000676425]\|not specified [RCV000425162]	benign	10	119161076	119161076	Human	1	name
13216401	CV429045	deletion	NM_213649.2(SFXN4):c.32del (p.Pro11fs)	not specified [RCV000503584]	uncertain significance	10	119165616	119165616	Human		name
13539429	CV503128	single nucleotide variant	NM_213649.2(SFXN4):c.204A>G (p.Leu68=)	not provided [RCV000888758]\|not specified [RCV000613261]	benign	10	119162388	119162388	Human		name
150446933	CV1201802	deletion	NM_213649.2(SFXN4):c.937-190_937-189del	not provided [RCV001584670]	likely benign	10	119141508	119141509	Human		name
150448068	CV1201981	deletion	NM_213649.2(SFXN4):c.819-156_819-153del	not provided [RCV001584850]	likely benign	10	119146506	119146509	Human		name
150461341	CV1206448	single nucleotide variant	NM_213649.2(SFXN4):c.441G>A (p.Ala147=)	not provided [RCV001586849]	likely benign	10	119157901	119157901	Human		name
150515838	CV1216347	deletion	NM_213649.2(SFXN4):c.937-147_937-146del	not provided [RCV001608538]	benign	10	119141465	119141466	Human		name
150482252	CV1247424	duplication	NM_213649.2(SFXN4):c.937-209_937-208dup	not provided [RCV001673249]	benign	10	119141507	119141508	Human		name
151234732	CV1320453	duplication	NM_213649.2(SFXN4):c.819-109_819-108dup	not provided [RCV001800077]	likely benign	10	119146460	119146461	Human		name
151351847	CV1323680	single nucleotide variant	NM_213649.2(SFXN4):c.354A>G (p.Ala118=)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV001807589]\|not provided [RCV002077261]	benign	10	119159734	119159734	Human	1	name
156155472	CV2121928	single nucleotide variant	NM_213649.2(SFXN4):c.34G>A (p.Gly12Arg)	not provided [RCV002929048]	uncertain significance	10	119165614	119165614	Human		name
156003346	CV2357447	single nucleotide variant	NM_213649.2(SFXN4):c.64C>T (p.Pro22Ser)	Inborn genetic diseases [RCV002997174]	uncertain significance	10	119165584	119165584	Human	1	name
401747218	CV2679038	single nucleotide variant	NM_213649.2(SFXN4):c.83A>G (p.Asn28Ser)	Inborn genetic diseases [RCV003252760]	uncertain significance	10	119165565	119165565	Human	1	name
405121955	CV3131640	single nucleotide variant	NM_213649.2(SFXN4):c.507G>A (p.Ala169=)	not provided [RCV003837504]	likely benign	10	119157698	119157698	Human		name
12837772	CV370627	single nucleotide variant	NM_213649.2(SFXN4):c.747G>A (p.Thr249=)	not provided [RCV000882515]\|not specified [RCV000425739]	benign	10	119147846	119147846	Human		name
12845670	CV370628	single nucleotide variant	NM_213649.2(SFXN4):c.678G>A (p.Ala226=)	SFXN4-related disorder [RCV003912643]\|not provided [RCV000676422]\|not specified [RCV000440246]	benign	10	119155116	119155116	Human	1	name , trait , alternate_id
12838816	CV370630	single nucleotide variant	NM_213649.2(SFXN4):c.471C>T (p.Tyr157=)	not specified [RCV000427655]	likely benign	10	119157871	119157871	Human		name
12843805	CV371169	single nucleotide variant	NM_213649.2(SFXN4):c.576T>C (p.Thr192=)	not specified [RCV000436880]	likely benign	10	119156718	119156718	Human		name
12838068	CV373294	single nucleotide variant	NM_213649.2(SFXN4):c.750A>G (p.Leu250=)	not provided [RCV001704335]	benign\|likely benign	10	119147843	119147843	Human		name
12838961	CV373298	single nucleotide variant	NM_213649.2(SFXN4):c.660A>G (p.Glu220=)	not specified [RCV000427930]	likely benign	10	119155134	119155134	Human		name
597889540	CV3839553	single nucleotide variant	NM_213649.2(SFXN4):c.708T>G (p.Gly236=)	not provided [RCV005179445]	likely benign	10	119155086	119155086	Human		name
13535076	CV503115	single nucleotide variant	NM_213649.2(SFXN4):c.703C>T (p.Leu235=)	not provided [RCV002529581]\|not specified [RCV000602100]	likely benign	10	119155091	119155091	Human		name
13529891	CV503124	single nucleotide variant	NM_213649.2(SFXN4):c.636T>C (p.Asn212=)	not specified [RCV000600480]	likely benign	10	119155158	119155158	Human		name
13525168	CV503277	single nucleotide variant	NM_213649.2(SFXN4):c.873T>C (p.Cys291=)	not provided [RCV003117383]\|not specified [RCV000602789]	likely benign	10	119146299	119146299	Human		name
14708409	CV664057	microsatellite	NM_213649.2(SFXN4):c.360+185_360+190del	not provided [RCV000826247]	benign	10	119159538	119159543	Human		name
15116721	CV767646	single nucleotide variant	NM_213649.2(SFXN4):c.693A>G (p.Glu231=)	not provided [RCV000939712]	likely benign	10	119155101	119155101	Human		name
8639121	CV97529	deletion	NM_213649.2(SFXN4):c.233del (p.Pro78fs)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV000077774]	pathogenic	10	119162359	119162359	Human	1	name
150544906	CV1315320	deletion	NM_213649.2(SFXN4):c.650del (p.Arg217fs)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV001783735]	likely pathogenic	10	119155144	119155144	Human		name
156321416	CV1897870	deletion	NM_213649.2(SFXN4):c.668del (p.Lys223fs)	not provided [RCV002579266]	pathogenic	10	119155126	119155126	Human		name
156196179	CV2347668	single nucleotide variant	NM_213649.2(SFXN4):c.103G>A (p.Glu35Lys)	Inborn genetic diseases [RCV002984915]\|not provided [RCV004719305]	uncertain significance	10	119165545	119165545	Human	1	name
407490028	CV3484061	single nucleotide variant	NM_213649.2(SFXN4):c.274A>G (p.Ser92Gly)	Inborn genetic diseases [RCV004666212]	uncertain significance	10	119161060	119161060	Human	1	name
597638898	CV3595678	single nucleotide variant	NM_213649.2(SFXN4):c.272G>A (p.Arg91Gln)	Inborn genetic diseases [RCV004971058]	uncertain significance	10	119161062	119161062	Human	1	name
597638903	CV3595679	single nucleotide variant	NM_213649.2(SFXN4):c.122G>A (p.Arg41Gln)	Inborn genetic diseases [RCV004971059]	likely benign	10	119164186	119164186	Human	1	name
598166707	CV3921194	single nucleotide variant	NM_213649.2(SFXN4):c.169A>G (p.Ile57Val)	Inborn genetic diseases [RCV005283709]	uncertain significance	10	119164139	119164139	Human	1	name
616939382	CV4015713	single nucleotide variant	NM_213649.2(SFXN4):c.271C>T (p.Arg91Trp)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV005413225]	uncertain significance	10	119161063	119161063	Human	1	name
14978484	CV677429	deletion	NM_213649.2(SFXN4):c.930del (p.Ile310fs)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV000850600]\|not provided [RCV004721646]	pathogenic\|likely pathogenic	10	119146242	119146242	Human	1	name
8639122	CV97530	duplication	NM_213649.2(SFXN4):c.739dup (p.Arg247fs)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV000077775]	pathogenic	10	119147853	119147854	Human	1	name
150533428	CV1294209	single nucleotide variant	NM_213649.2(SFXN4):c.929T>C (p.Ile310Thr)	not provided [RCV001758227]	uncertain significance	10	119146243	119146243	Human		name
150546722	CV1313865	single nucleotide variant	NM_213649.2(SFXN4):c.368T>A (p.Leu123Ter)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV001784965]	pathogenic	10	119158055	119158055	Human	1	name
156296082	CV1888618	single nucleotide variant	NM_213649.2(SFXN4):c.650G>A (p.Arg217Gln)	Inborn genetic diseases [RCV003061668]\|not provided [RCV003061667]	likely benign\|uncertain significance	10	119155144	119155144	Human	1	name
155971807	CV1889562	single nucleotide variant	NM_213649.2(SFXN4):c.559A>G (p.Met187Val)	Inborn genetic diseases [RCV003075216]\|not provided [RCV003075215]	uncertain significance	10	119156735	119156735	Human	1	name
155949802	CV1935992	single nucleotide variant	NM_213649.2(SFXN4):c.761T>C (p.Ile254Thr)	not provided [RCV002511644]	uncertain significance	10	119147832	119147832	Human		name
156071658	CV1988984	single nucleotide variant	NM_213649.2(SFXN4):c.839A>T (p.Asn280Ile)	not provided [RCV002638618]	uncertain significance	10	119146333	119146333	Human		name
156038737	CV1998912	single nucleotide variant	NM_213649.2(SFXN4):c.731A>G (p.Lys244Arg)	not provided [RCV002658951]	uncertain significance	10	119155063	119155063	Human		name
155986945	CV2248033	single nucleotide variant	NM_213649.2(SFXN4):c.359C>T (p.Thr120Met)	Inborn genetic diseases [RCV002778218]	likely benign	10	119159729	119159729	Human	1	name
156153808	CV2266025	single nucleotide variant	NM_213649.2(SFXN4):c.449G>A (p.Ser150Asn)	Inborn genetic diseases [RCV002826945]	uncertain significance	10	119157893	119157893	Human	1	name
155908309	CV2387281	single nucleotide variant	NM_213649.2(SFXN4):c.347T>C (p.Phe116Ser)	Inborn genetic diseases [RCV002749811]	uncertain significance	10	119159741	119159741	Human	1	name
329391877	CV2453207	single nucleotide variant	NM_213649.2(SFXN4):c.746C>T (p.Thr249Met)	Inborn genetic diseases [RCV003217484]\|not provided [RCV003329476]	uncertain significance	10	119147847	119147847	Human	1	name
329393446	CV2453363	single nucleotide variant	NM_213649.2(SFXN4):c.641A>G (p.Tyr214Cys)	Inborn genetic diseases [RCV003193175]	uncertain significance	10	119155153	119155153	Human	1	name
329352797	CV2470540	single nucleotide variant	NM_213649.2(SFXN4):c.518C>T (p.Ala173Val)	Inborn genetic diseases [RCV003200793]	uncertain significance	10	119157687	119157687	Human	1	name
401763429	CV2703838	single nucleotide variant	NM_213649.2(SFXN4):c.450C>G (p.Ser150Arg)	Inborn genetic diseases [RCV003281524]	uncertain significance	10	119157892	119157892	Human	1	name
401914967	CV2830910	single nucleotide variant	NM_213649.2(SFXN4):c.377C>T (p.Thr126Met)	not provided [RCV003442649]	uncertain significance	10	119158046	119158046	Human		name
405132137	CV3051047	single nucleotide variant	NM_213649.2(SFXN4):c.575C>T (p.Thr192Ile)	not provided [RCV003724810]	uncertain significance	10	119156719	119156719	Human		name
405004196	CV3120727	single nucleotide variant	NM_213649.2(SFXN4):c.325C>T (p.Arg109Ter)	not provided [RCV003828330]	pathogenic	10	119160924	119160924	Human		name
405764312	CV3321569	single nucleotide variant	NM_213649.2(SFXN4):c.478A>C (p.Lys160Gln)	Inborn genetic diseases [RCV004455861]	uncertain significance	10	119157727	119157727	Human	1	name
405764318	CV3321570	single nucleotide variant	NM_213649.2(SFXN4):c.971C>T (p.Ser324Phe)	Inborn genetic diseases [RCV004455862]	uncertain significance	10	119141285	119141285	Human	1	name
407490026	CV3484060	single nucleotide variant	NM_213649.2(SFXN4):c.781G>A (p.Ala261Thr)	Inborn genetic diseases [RCV004666211]	uncertain significance	10	119147812	119147812	Human	1	name
596927594	CV3541139	single nucleotide variant	NM_213649.2(SFXN4):c.823C>T (p.Gln275Ter)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV004797010]	likely pathogenic	10	119146349	119146349	Human	1	name
597697909	CV3595680	single nucleotide variant	NM_213649.2(SFXN4):c.331G>A (p.Ala111Thr)	Inborn genetic diseases [RCV004955137]	uncertain significance	10	119160918	119160918	Human	1	name
598166328	CV3893318	single nucleotide variant	NM_213649.2(SFXN4):c.830T>C (p.Phe277Ser)	Inborn genetic diseases [RCV005283650]\|not provided [RCV005256051]	uncertain significance	10	119146342	119146342	Human	1	name
598166701	CV3921193	single nucleotide variant	NM_213649.2(SFXN4):c.874A>G (p.Thr292Ala)	Inborn genetic diseases [RCV005283708]	uncertain significance	10	119146298	119146298	Human	1	name
598198574	CV3921195	single nucleotide variant	NM_213649.2(SFXN4):c.667A>G (p.Lys223Glu)	Inborn genetic diseases [RCV005268267]	uncertain significance	10	119155127	119155127	Human	1	name
598166712	CV3921196	single nucleotide variant	NM_213649.2(SFXN4):c.841C>G (p.Pro281Ala)	Inborn genetic diseases [RCV005283710]	uncertain significance	10	119146331	119146331	Human	1	name
14702474	CV626195	single nucleotide variant	NM_213649.2(SFXN4):c.940C>T (p.Gln314Ter)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV000790943]	pathogenic	10	119141316	119141316	Human	1	name
15108644	CV751984	single nucleotide variant	NM_213649.2(SFXN4):c.677C>T (p.Ala226Val)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV003141896]\|not provided [RCV000916180]	likely benign\|uncertain significance	10	119155117	119155117	Human	1	name
21073659	CV796368	single nucleotide variant	NM_213649.2(SFXN4):c.410C>T (p.Pro137Leu)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV001333781]\|Inborn genetic diseases [RCV004030177]\|not provided [RCV000994518]	uncertain significance	10	119158013	119158013	Human	2	name
40887290	CV973737	single nucleotide variant	NM_213649.2(SFXN4):c.649C>T (p.Arg217Ter)	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome [RCV001330860]\|Inborn genetic diseases [RCV001266800]	pathogenic\|likely pathogenic	10	119155145	119155145	Human	2	name
150478916	CV1282113	insertion	NM_213649.2(SFXN4):c.819-108_819-107insCGCA	not provided [RCV001714379]	benign	10	119146460	119146461	Human		name
150503141	CV1241735	microsatellite	NM_213649.2(SFXN4):c.819-108_819-107insCGCACA	not provided [RCV001657326]	benign	10	119146460	119146461	Human		name
405002202	CV3184112	inversion	NM_213649.2(SFXN4):c.353_354inv (p.Ala118Val)	not provided [RCV003882695]	uncertain significance	10	119159734	119159735	Human		name
150455289	CV1220438	microsatellite	NM_213649.2(SFXN4):c.819-108_819-107insCGCACACA	not provided [RCV001612531]	benign	10	119146460	119146461	Human		name
151816103	CV1344432	indel	NM_213649.2(SFXN4):c.353_354delinsAG (p.Ala118Glu)	not provided [RCV001919097]	uncertain significance	10	119159734	119159735	Human		name

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