Slc25a38 Variant Search Result - Rat Genome Database

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238 records found for search term Slc25a38

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11652595	CV294768	single nucleotide variant	NM_017875.4(SLC25A38):c.-69C>T	Sideroblastic anemia 2 [RCV000305793]\|X-linked sideroblastic anemia 1 [RCV000360803]	uncertain significance	3	39383656	39383656	Human	2	name
28875370	CV888874	single nucleotide variant	NM_017875.4(SLC25A38):c.-39G>C	Sideroblastic anemia 2 [RCV001147628]	uncertain significance	3	39383686	39383686	Human	1	name
28885798	CV888875	single nucleotide variant	NM_017875.4(SLC25A38):c.-15C>A	Sideroblastic anemia 2 [RCV001150971]	uncertain significance	3	39383710	39383710	Human	1	name
11583365	CV290283	single nucleotide variant	NM_017875.4(SLC25A38):c.-303A>C	Sideroblastic anemia 2 [RCV000361466]\|X-linked sideroblastic anemia 1 [RCV000266310]\|not provided [RCV001566028]	benign\|likely benign	3	39383422	39383422	Human	2	name
11656123	CV290295	single nucleotide variant	NM_017875.4(SLC25A38):c.*370C>T	Refractory anemia with ringed sideroblasts [RCV000383297]\|Sideroblastic anemia 2 [RCV000331194]	uncertain significance	3	39396890	39396890	Human	2	name
11647758	CV291116	single nucleotide variant	NM_017875.4(SLC25A38):c.-227G>A	Sideroblastic anemia 2 [RCV000372941]\|X-linked sideroblastic anemia 1 [RCV000278334]	uncertain significance	3	39383498	39383498	Human	2	name
11593077	CV291117	single nucleotide variant	NM_017875.4(SLC25A38):c.-161G>A	Refractory anemia with ringed sideroblasts [RCV000391690]\|Sideroblastic anemia 2 [RCV000345376]\|not provided [RCV004694742]	uncertain significance	3	39383564	39383564	Human	2	name
11582648	CV291136	single nucleotide variant	NM_017875.4(SLC25A38):c.*304C>T	Sideroblastic anemia 2 [RCV000261187]\|X-linked sideroblastic anemia 1 [RCV000314019]	likely benign\|uncertain significance	3	39396824	39396824	Human	2	name
11584439	CV291140	single nucleotide variant	NM_017875.4(SLC25A38):c.*310A>T	Refractory anemia with ringed sideroblasts [RCV000370946]\|Sideroblastic anemia 2 [RCV000273716]\|not provided [RCV001636962]	benign	3	39396830	39396830	Human	2	name
11585977	CV291141	single nucleotide variant	NM_017875.4(SLC25A38):c.*490G>A	Sideroblastic anemia 2 [RCV000337092]\|X-linked sideroblastic anemia 1 [RCV000284434]	likely benign\|uncertain significance	3	39397010	39397010	Human	2	name
11585050	CV291142	single nucleotide variant	NM_017875.4(SLC25A38):c.*588T>A	Refractory anemia with ringed sideroblasts [RCV000401088]\|Sideroblastic anemia 2 [RCV000278388]\|not provided [RCV001672629]	benign\|likely benign	3	39397108	39397108	Human	2	name
11590685	CV294419	single nucleotide variant	NM_017875.4(SLC25A38):c.-292G>A	Sideroblastic anemia 2 [RCV000376142]\|X-linked sideroblastic anemia 1 [RCV000321473]\|not provided [RCV001558065]	likely benign\|uncertain significance	3	39383433	39383433	Human	2	name
11585597	CV294428	single nucleotide variant	NM_017875.4(SLC25A38):c.-237G>A	Sideroblastic anemia 2 [RCV000282037]\|X-linked sideroblastic anemia 1 [RCV000318319]	uncertain significance	3	39383488	39383488	Human	2	name
11593751	CV294431	single nucleotide variant	NM_017875.4(SLC25A38):c.-225G>A	Sideroblastic anemia 2 [RCV000399156]\|X-linked sideroblastic anemia 1 [RCV000352047]	uncertain significance	3	39383500	39383500	Human	2	name
11650607	CV294437	single nucleotide variant	NM_017875.4(SLC25A38):c.-219T>C	Sideroblastic anemia 2 [RCV000349080]\|X-linked sideroblastic anemia 1 [RCV000294037]	uncertain significance	3	39383506	39383506	Human	2	name
11586094	CV294446	single nucleotide variant	NM_017875.4(SLC25A38):c.*431G>A	Refractory anemia with ringed sideroblasts [RCV000382297]\|Sideroblastic anemia 2 [RCV000285639]\|not provided [RCV001786375]	likely benign\|uncertain significance	3	39396951	39396951	Human	2	name
11646321	CV294758	single nucleotide variant	NM_017875.4(SLC25A38):c.-325G>C	Sideroblastic anemia 2 [RCV000270274]\|X-linked sideroblastic anemia 1 [RCV000325456]	uncertain significance	3	39383400	39383400	Human	2	name
11589246	CV294759	single nucleotide variant	NM_017875.4(SLC25A38):c.-209A>G	Refractory anemia with ringed sideroblasts [RCV000309157]\|Sideroblastic anemia 2 [RCV000391659]\|not provided [RCV001537121]	benign\|likely benign	3	39383516	39383516	Human	2	name
11646718	CV294807	single nucleotide variant	NM_017875.4(SLC25A38):c.*404G>A	Refractory anemia with ringed sideroblasts [RCV000272560]\|Sideroblastic anemia 2 [RCV000325398]	uncertain significance	3	39396924	39396924	Human	2	name
11592830	CV294827	single nucleotide variant	NM_017875.4(SLC25A38):c.*472G>T	Sideroblastic anemia 2 [RCV000376052]\|X-linked sideroblastic anemia 1 [RCV000342953]\|not provided [RCV001683376]	benign\|likely benign	3	39396992	39396992	Human	2	name
11656715	CV294831	deletion	NM_017875.4(SLC25A38):c.*642del	Refractory anemia with ringed sideroblasts [RCV000335834]\|X-linked sideroblastic anemia 1 [RCV000392117]	benign	3	39397154	39397154	Human	2	name
405148938	CV3063489	single nucleotide variant	NM_017875.4(SLC25A38):c.69+7G>A	not provided [RCV003726274]	likely benign	3	39383800	39383800	Human		name
11666249	CV353648	single nucleotide variant	NM_017875.4(SLC25A38):c.*809C>T	Refractory anemia with ringed sideroblasts [RCV000366727]\|X-linked sideroblastic anemia 1 [RCV000328323]	likely benign	3	39397329	39397329	Human	2	name
13794682	CV552073	single nucleotide variant	NM_017875.4(SLC25A38):c.70-2A>C	Sideroblastic anemia 2 [RCV000680098]	pathogenic	3	39389493	39389493	Human	1	name
28873379	CV888873	single nucleotide variant	NM_017875.4(SLC25A38):c.-273G>A	Sideroblastic anemia 2 [RCV001146730]\|not provided [RCV001549767]	likely benign	3	39383452	39383452	Human	1	name
28873633	CV888882	single nucleotide variant	NM_017875.4(SLC25A38):c.*212T>G	Sideroblastic anemia 2 [RCV001146845]\|not provided [RCV001720276]	benign	3	39396732	39396732	Human	1	name
28875586	CV888883	single nucleotide variant	NM_017875.4(SLC25A38):c.*305G>A	Sideroblastic anemia 2 [RCV001147735]	uncertain significance	3	39396825	39396825	Human	1	name
28875588	CV888884	single nucleotide variant	NM_017875.4(SLC25A38):c.*381G>C	Sideroblastic anemia 2 [RCV001147736]	uncertain significance	3	39396901	39396901	Human	1	name
28875592	CV888885	single nucleotide variant	NM_017875.4(SLC25A38):c.*395G>A	Sideroblastic anemia 2 [RCV001147737]	uncertain significance	3	39396915	39396915	Human	1	name
28886159	CV888886	single nucleotide variant	NM_017875.4(SLC25A38):c.*547C>T	Sideroblastic anemia 2 [RCV001151075]	uncertain significance	3	39397067	39397067	Human	1	name
28886163	CV888887	single nucleotide variant	NM_017875.4(SLC25A38):c.*548G>A	Sideroblastic anemia 2 [RCV001151076]	uncertain significance	3	39397068	39397068	Human	1	name
28886166	CV888888	single nucleotide variant	NM_017875.4(SLC25A38):c.*549G>A	Sideroblastic anemia 2 [RCV001151077]	likely benign	3	39397069	39397069	Human	1	name
28886171	CV888889	single nucleotide variant	NM_017875.4(SLC25A38):c.*718G>A	Sideroblastic anemia 2 [RCV001151078]	uncertain significance	3	39397238	39397238	Human	1	name
127327030	CV1161588	single nucleotide variant	NM_017875.4(SLC25A38):c.276+1G>A	Sideroblastic anemia 2 [RCV001526348]	pathogenic	3	39390508	39390508	Human	1	name
127327084	CV1161589	single nucleotide variant	NM_017875.4(SLC25A38):c.276+1G>T	Sideroblastic anemia 2 [RCV001526378]	pathogenic	3	39390508	39390508	Human	1	name
127327031	CV1161590	single nucleotide variant	NM_017875.4(SLC25A38):c.277-2A>C	Sideroblastic anemia 2 [RCV001526349]	pathogenic	3	39391439	39391439	Human	1	name
127327036	CV1161602	single nucleotide variant	NM_017875.4(SLC25A38):c.457-1G>T	Sideroblastic anemia 2 [RCV001526352]	pathogenic	3	39391852	39391852	Human	1	name
127327097	CV1161610	single nucleotide variant	NM_017875.4(SLC25A38):c.626-2A>T	Sideroblastic anemia 2 [RCV001526385]	pathogenic	3	39394408	39394408	Human	1	name
127327043	CV1161615	single nucleotide variant	NM_017875.4(SLC25A38):c.792+5G>C	Sideroblastic anemia 2 [RCV001526355]	pathogenic	3	39394581	39394581	Human	1	name
150544944	CV1315343	single nucleotide variant	NM_017875.4(SLC25A38):c.277-2A>G	Sideroblastic anemia 2 [RCV001783758]	likely pathogenic	3	39391439	39391439	Human		name
151761643	CV1346499	single nucleotide variant	NM_017875.4(SLC25A38):c.276+1G>C	not provided [RCV001970260]	likely pathogenic	3	39390508	39390508	Human		name
8555986	CV16160	single nucleotide variant	NM_017875.4(SLC25A38):c.277-1G>A	Sideroblastic anemia 2 [RCV000001180]	pathogenic	3	39391440	39391440	Human	1	name
156040141	CV1890981	single nucleotide variant	NM_017875.4(SLC25A38):c.793-3T>C	not provided [RCV003078484]	uncertain significance	3	39396395	39396395	Human		name
156226280	CV1956705	single nucleotide variant	NM_017875.4(SLC25A38):c.69+14G>C	not provided [RCV002575713]	likely benign	3	39383807	39383807	Human		name
156344899	CV2176271	deletion	NM_017875.4(SLC25A38):c.625+6del	not provided [RCV003030504]	uncertain significance	3	39392025	39392025	Human		name
401940426	CV2842099	single nucleotide variant	NM_017875.4(SLC25A38):c.793-1G>C	Sideroblastic anemia 2 [RCV003454384]	likely pathogenic	3	39396397	39396397	Human	1	name
405074477	CV2876589	single nucleotide variant	NM_017875.4(SLC25A38):c.192-8G>C	not provided [RCV003548567]	likely benign	3	39390415	39390415	Human		name
405210067	CV3145946	single nucleotide variant	NM_017875.4(SLC25A38):c.69+16G>A	not provided [RCV003845676]	likely benign	3	39383809	39383809	Human		name
12847591	CV367535	single nucleotide variant	NM_017875.4(SLC25A38):c.69+12G>A	not specified [RCV000443757]	likely benign	3	39383805	39383805	Human		name
597921102	CV3850737	single nucleotide variant	NM_017875.4(SLC25A38):c.276+6C>G	not provided [RCV005195870]	uncertain significance	3	39390513	39390513	Human		name
28873627	CV891641	single nucleotide variant	NM_017875.4(SLC25A38):c.626-5T>C	Sideroblastic anemia 2 [RCV001146843]\|not provided [RCV003727912]	likely benign\|uncertain significance	3	39394405	39394405	Human	1	name
150416426	CV1179703	single nucleotide variant	NM_017875.4(SLC25A38):c.69+109G>T	not provided [RCV001549625]	likely benign	3	39383902	39383902	Human		name
150423598	CV1183340	single nucleotide variant	NM_017875.4(SLC25A38):c.69+116A>G	not provided [RCV001555543]	likely benign	3	39383909	39383909	Human		name
150423804	CV1183341	single nucleotide variant	NM_017875.4(SLC25A38):c.69+218G>T	not provided [RCV001555826]	likely benign	3	39384011	39384011	Human		name
150471350	CV1209530	single nucleotide variant	NM_017875.4(SLC25A38):c.69+182G>A	not provided [RCV001588641]	likely benign	3	39383975	39383975	Human		name
150481673	CV1222204	single nucleotide variant	NM_017875.4(SLC25A38):c.69+207G>C	not provided [RCV001617002]	benign	3	39384000	39384000	Human		name
150432044	CV1236629	single nucleotide variant	NM_017875.4(SLC25A38):c.69+257C>T	not provided [RCV001642033]	benign	3	39384050	39384050	Human		name
150434019	CV1243847	single nucleotide variant	NM_017875.4(SLC25A38):c.625+71A>G	not provided [RCV001665053]	benign	3	39392092	39392092	Human		name
150497754	CV1281542	single nucleotide variant	NM_017875.4(SLC25A38):c.70-192A>G	not provided [RCV001717901]	benign	3	39389303	39389303	Human		name
150478263	CV1281898	single nucleotide variant	NM_017875.4(SLC25A38):c.456+36G>A	Sideroblastic anemia 2 [RCV001807525]\|not provided [RCV001714266]	benign	3	39391656	39391656	Human	1	name
150493382	CV1281899	single nucleotide variant	NM_017875.4(SLC25A38):c.793-89A>G	not provided [RCV001716998]	benign	3	39396309	39396309	Human		name
150478487	CV1281965	single nucleotide variant	NM_017875.4(SLC25A38):c.626-36G>C	Sideroblastic anemia 2 [RCV001807526]\|not provided [RCV001714303]	benign	3	39394374	39394374	Human	1	name
150509922	CV1286291	single nucleotide variant	NM_017875.4(SLC25A38):c.792+98A>C	not provided [RCV001720819]	benign	3	39394674	39394674	Human		name
156407715	CV1957586	single nucleotide variant	NM_017875.4(SLC25A38):c.457-17C>T	not provided [RCV002586309]	likely benign	3	39391836	39391836	Human		name
156408351	CV1957809	single nucleotide variant	NM_017875.4(SLC25A38):c.276+11A>G	not provided [RCV002586491]	likely benign	3	39390518	39390518	Human		name
405150491	CV2956999	single nucleotide variant	NM_017875.4(SLC25A38):c.456+12C>T	not provided [RCV003670022]	likely benign	3	39391632	39391632	Human		name
405172549	CV2961489	single nucleotide variant	NM_017875.4(SLC25A38):c.792+12A>G	not provided [RCV003675540]	likely benign	3	39394588	39394588	Human		name
405178103	CV3123500	single nucleotide variant	NM_017875.4(SLC25A38):c.191+18T>C	not provided [RCV003819709]	likely benign	3	39389634	39389634	Human		name
405115521	CV3134186	single nucleotide variant	NM_017875.4(SLC25A38):c.192-18C>T	not provided [RCV003836788]	likely benign	3	39390405	39390405	Human		name
405116748	CV3134242	duplication	NM_017875.4(SLC25A38):c.192-13dup	not provided [RCV003836844]	benign	3	39390406	39390407	Human		name
405205503	CV3144244	single nucleotide variant	NM_017875.4(SLC25A38):c.277-12C>T	not provided [RCV003845034]	likely benign	3	39391429	39391429	Human		name
12845454	CV367541	single nucleotide variant	NM_017875.4(SLC25A38):c.276+13C>A	not provided [RCV005055966]\|not specified [RCV000439838]	likely benign	3	39390520	39390520	Human		name
597911335	CV3745602	single nucleotide variant	NM_017875.4(SLC25A38):c.277-12C>A	not provided [RCV005073603]	likely benign	3	39391429	39391429	Human		name
597888347	CV3811915	single nucleotide variant	NM_017875.4(SLC25A38):c.277-11C>T	not provided [RCV005163568]	likely benign	3	39391430	39391430	Human		name
28869289	CV891640	single nucleotide variant	NM_017875.4(SLC25A38):c.456+10A>G	Sideroblastic anemia 2 [RCV001144864]\|not provided [RCV002559398]	likely benign\|uncertain significance	3	39391630	39391630	Human	1	name
150420742	CV1179704	deletion	NM_017875.4(SLC25A38):c.793-175del	not provided [RCV001551690]	likely benign	3	39396212	39396212	Human		name
150421831	CV1193312	single nucleotide variant	NM_017875.4(SLC25A38):c.191+326T>C	not provided [RCV001570709]	likely benign	3	39389942	39389942	Human		name
150496872	CV1208659	single nucleotide variant	NM_017875.4(SLC25A38):c.793-296C>T	not provided [RCV001593875]	likely benign	3	39396102	39396102	Human		name
150479330	CV1239366	single nucleotide variant	NM_017875.4(SLC25A38):c.625+241T>C	not provided [RCV001652529]	benign	3	39392262	39392262	Human		name
150435283	CV1244377	duplication	NM_017875.4(SLC25A38):c.793-175dup	not provided [RCV001665368]	benign	3	39396211	39396212	Human		name
150484125	CV1247073	single nucleotide variant	NM_017875.4(SLC25A38):c.277-147C>T	not provided [RCV001673569]	benign	3	39391294	39391294	Human		name
150442872	CV1249190	single nucleotide variant	NM_017875.4(SLC25A38):c.792+293C>G	not provided [RCV001666622]	benign	3	39394869	39394869	Human	1	name
150442872	CV1249190	single nucleotide variant	NM_017875.4(SLC25A38):c.792+293C>G	not provided [RCV001666622]	benign	3	39394869	39394870	Human	1	name
14718087	CV659847	single nucleotide variant	NM_017875.4(SLC25A38):c.625+291G>A	not provided [RCV000830281]	benign	3	39392312	39392312	Human		name
14746170	CV659908	single nucleotide variant	NM_017875.4(SLC25A38):c.792+160A>C	not provided [RCV000844156]	benign	3	39394736	39394736	Human		name
14720151	CV659926	single nucleotide variant	NM_017875.4(SLC25A38):c.793-224C>T	not provided [RCV000831093]	benign	3	39396174	39396174	Human		name
14746175	CV659936	single nucleotide variant	NM_017875.4(SLC25A38):c.793-174T>A	not provided [RCV000844161]	benign	3	39396224	39396224	Human		name
14718078	CV660003	single nucleotide variant	NM_017875.4(SLC25A38):c.276+249C>T	not provided [RCV000830278]	benign	3	39390756	39390756	Human		name
14746172	CV660010	single nucleotide variant	NM_017875.4(SLC25A38):c.792+171T>A	not provided [RCV000844158]	benign	3	39394747	39394747	Human		name
14720154	CV660012	single nucleotide variant	NM_017875.4(SLC25A38):c.793-175A>T	not provided [RCV000831095]	benign	3	39396223	39396223	Human		name
14746173	CV660099	single nucleotide variant	NM_017875.4(SLC25A38):c.792+240T>C	not provided [RCV000844159]	benign	3	39394816	39394816	Human		name
155908908	CV2017491	deletion	NM_017875.4(SLC25A38):c.793-2_798del	not provided [RCV002681571]	uncertain significance	3	39396394	39396401	Human		name
155970876	CV2062462	single nucleotide variant	NM_017875.4(SLC25A38):c.24G>T (p.Ser8=)	not provided [RCV002842071]	likely benign	3	39383748	39383748	Human		name
156193141	CV2082991	single nucleotide variant	NM_017875.4(SLC25A38):c.21G>A (p.Pro7=)	not provided [RCV002852204]	likely benign	3	39383745	39383745	Human		name
11583394	CV291118	single nucleotide variant	NM_017875.4(SLC25A38):c.12C>T (p.Asn4=)	Sideroblastic anemia 2 [RCV000302431]\|X-linked sideroblastic anemia 1 [RCV000266145]\|not provided [RCV001718735]	benign\|likely benign\|uncertain significance	3	39383736	39383736	Human	2	name
405216977	CV2911270	single nucleotide variant	NM_017875.4(SLC25A38):c.25C>T (p.Leu9=)	not provided [RCV003567783]	likely benign	3	39383749	39383749	Human		name
12833048	CV367229	single nucleotide variant	NM_017875.4(SLC25A38):c.18T>G (p.Arg6=)	not provided [RCV001698193]	likely benign	3	39383742	39383742	Human		name
151729929	CV1506040	single nucleotide variant	NM_017875.4(SLC25A38):c.1A>G (p.Met1Val)	not provided [RCV001892137]	uncertain significance	3	39383725	39383725	Human		name
405207010	CV3120430	single nucleotide variant	NM_017875.4(SLC25A38):c.54G>A (p.Thr18=)	not provided [RCV003822764]	likely benign	3	39383778	39383778	Human		name
14688144	CV620124	single nucleotide variant	NM_017875.4(SLC25A38):c.2T>C (p.Met1Thr)	SLC25A38-related disorder [RCV000778695]	uncertain significance	3	39383726	39383726	Human		name , trait , alternate_id
156142290	CV1959763	single nucleotide variant	NM_017875.4(SLC25A38):c.240G>A (p.Thr80=)	not provided [RCV002572614]	uncertain significance	3	39390471	39390471	Human		name
11579953	CV265917	single nucleotide variant	NM_017875.4(SLC25A38):c.165G>A (p.Leu55=)	Refractory anemia with ringed sideroblasts [RCV000372560]\|Sideroblastic anemia 2 [RCV000317815]\|not provided [RCV002059089]\|not specified [RCV000286235]	benign	3	39389590	39389590	Human	2	name
11586830	CV294783	single nucleotide variant	NM_017875.4(SLC25A38):c.288A>G (p.Arg96=)	Refractory anemia with ringed sideroblasts [RCV000385336]\|Sideroblastic anemia 2 [RCV000290838]\|not provided [RCV001861217]	likely benign\|uncertain significance	3	39391452	39391452	Human	2	name
405222248	CV3056923	single nucleotide variant	NM_017875.4(SLC25A38):c.273C>T (p.Ser91=)	not provided [RCV003733491]	likely benign	3	39390504	39390504	Human		name
405202872	CV3116737	single nucleotide variant	NM_017875.4(SLC25A38):c.14C>G (p.Ser5Ter)	not provided [RCV003822220]	pathogenic	3	39383738	39383738	Human		name
405170813	CV3149971	single nucleotide variant	NM_017875.4(SLC25A38):c.123T>C (p.Ser41=)	not provided [RCV003841442]	likely benign	3	39389548	39389548	Human		name
597857764	CV3793545	duplication	NM_017875.4(SLC25A38):c.52dup (p.Thr18fs)	not provided [RCV005132201]	pathogenic	3	39383775	39383776	Human		name
15098305	CV698078	single nucleotide variant	NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser)	Sideroblastic anemia 2 [RCV001150972]\|not provided [RCV000958527]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	3	39383735	39383735	Human	1	name
150423355	CV1183342	single nucleotide variant	NM_017875.4(SLC25A38):c.786T>C (p.Ile262=)	not provided [RCV001555205]	likely benign	3	39394570	39394570	Human		name
151799894	CV1497879	single nucleotide variant	NM_017875.4(SLC25A38):c.86A>G (p.Lys29Arg)	not provided [RCV001952823]	uncertain significance	3	39389511	39389511	Human		name
152048906	CV1627630	single nucleotide variant	NM_017875.4(SLC25A38):c.702A>G (p.Val234=)	not provided [RCV002108695]	likely benign	3	39394486	39394486	Human		name
155266408	CV1698909	single nucleotide variant	NM_017875.4(SLC25A38):c.85A>G (p.Lys29Glu)	Sideroblastic anemia 2 [RCV002282763]	uncertain significance	3	39389510	39389510	Human	1	name
156408737	CV1911746	single nucleotide variant	NM_017875.4(SLC25A38):c.633G>A (p.Val211=)	not provided [RCV002607331]	likely benign	3	39394417	39394417	Human		name
156375837	CV2024696	single nucleotide variant	NM_017875.4(SLC25A38):c.43G>A (p.Val15Ile)	not provided [RCV002721911]	uncertain significance	3	39383767	39383767	Human		name
156011754	CV2079886	single nucleotide variant	NM_017875.4(SLC25A38):c.642C>A (p.Thr214=)	not provided [RCV002866145]	likely benign	3	39394426	39394426	Human		name
156037292	CV2143270	single nucleotide variant	NM_017875.4(SLC25A38):c.366C>T (p.Thr122=)	not provided [RCV002999383]	likely benign	3	39391530	39391530	Human		name
401926329	CV2827280	single nucleotide variant	NM_017875.4(SLC25A38):c.858A>G (p.Ala286=)	not provided [RCV003437771]	likely benign	3	39396463	39396463	Human		name
402481362	CV2864082	single nucleotide variant	NM_017875.4(SLC25A38):c.585C>T (p.Tyr195=)	not provided [RCV003543999]	likely benign	3	39391981	39391981	Human		name
11657389	CV290290	single nucleotide variant	NM_017875.4(SLC25A38):c.570C>A (p.Pro190=)	Refractory anemia with ringed sideroblasts [RCV000340811]\|Sideroblastic anemia 2 [RCV000407916]	uncertain significance	3	39391966	39391966	Human	2	name
11588366	CV294793	single nucleotide variant	NM_017875.4(SLC25A38):c.462G>A (p.Gly154=)	Sideroblastic anemia 2 [RCV000302332]\|X-linked sideroblastic anemia 1 [RCV000407906]\|not provided [RCV001718736]	likely benign\|uncertain significance	3	39391858	39391858	Human	2	name
405122038	CV3024704	single nucleotide variant	NM_017875.4(SLC25A38):c.618G>T (p.Val206=)	not provided [RCV003700860]	likely benign	3	39392014	39392014	Human		name
405144168	CV3056239	single nucleotide variant	NM_017875.4(SLC25A38):c.867G>A (p.Ala289=)	not provided [RCV003725907]	likely benign	3	39396472	39396472	Human		name
405202063	CV3129275	single nucleotide variant	NM_017875.4(SLC25A38):c.378A>G (p.Ser126=)	not provided [RCV003822128]	likely benign	3	39391542	39391542	Human		name
405176166	CV3152244	single nucleotide variant	NM_017875.4(SLC25A38):c.435T>C (p.Thr145=)	not provided [RCV003858199]	likely benign	3	39391599	39391599	Human		name
402504689	CV3181489	single nucleotide variant	NM_017875.4(SLC25A38):c.879T>C (p.Tyr293=)	not provided [RCV003878323]	likely benign	3	39396484	39396484	Human		name
405768354	CV3321718	single nucleotide variant	NM_017875.4(SLC25A38):c.34C>T (p.Pro12Ser)	Inborn genetic diseases [RCV004456537]	uncertain significance	3	39383758	39383758	Human	1	name
405768365	CV3321720	single nucleotide variant	NM_017875.4(SLC25A38):c.77C>T (p.Pro26Leu)	Inborn genetic diseases [RCV004456539]	uncertain significance	3	39389502	39389502	Human	1	name
596931275	CV3531610	single nucleotide variant	NM_017875.4(SLC25A38):c.82A>G (p.Ile28Val)	not provided [RCV004781172]	uncertain significance	3	39389507	39389507	Human		name
12838579	CV367543	single nucleotide variant	NM_017875.4(SLC25A38):c.525G>C (p.Arg175=)	Sideroblastic anemia 2 [RCV001146840]\|not provided [RCV001720124]	benign\|likely benign\|uncertain significance	3	39391921	39391921	Human	1	name
597969590	CV3753359	single nucleotide variant	NM_017875.4(SLC25A38):c.381C>G (p.Val127=)	not provided [RCV005083844]	likely benign	3	39391545	39391545	Human		name
597903070	CV3825743	single nucleotide variant	NM_017875.4(SLC25A38):c.714G>A (p.Ala238=)	not provided [RCV005177617]	likely benign	3	39394498	39394498	Human		name
597895605	CV3831277	single nucleotide variant	NM_017875.4(SLC25A38):c.468T>C (p.Tyr156=)	not provided [RCV005170480]	likely benign	3	39391864	39391864	Human		name
13526327	CV500253	single nucleotide variant	NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=)	SLC25A38-related disorder [RCV004543412]\|Sideroblastic anemia 2 [RCV001144865]\|not provided [RCV000923430]\|not specified [RCV000604002]	likely benign\|uncertain significance	3	39391882	39391882	Human	1	name , trait , alternate_id
13530215	CV500820	single nucleotide variant	NM_017875.4(SLC25A38):c.492C>T (p.Ala164=)	not specified [RCV000600616]	likely benign	3	39391888	39391888	Human		name
13527438	CV500821	single nucleotide variant	NM_017875.4(SLC25A38):c.798T>C (p.Tyr266=)	not provided [RCV003546579]\|not specified [RCV000599757]	likely benign	3	39396403	39396403	Human		name
14743223	CV655549	single nucleotide variant	NM_017875.4(SLC25A38):c.447G>A (p.Thr149=)	not provided [RCV000841907]	likely benign	3	39391611	39391611	Human		name
28873624	CV888879	single nucleotide variant	NM_017875.4(SLC25A38):c.528C>A (p.Gly176=)	Sideroblastic anemia 2 [RCV001146841]	uncertain significance	3	39391924	39391924	Human	1	name
28873630	CV888881	single nucleotide variant	NM_017875.4(SLC25A38):c.780A>G (p.Thr260=)	Sideroblastic anemia 2 [RCV001146844]\|not provided [RCV003769703]	likely benign\|uncertain significance	3	39394564	39394564	Human	1	name
127327086	CV1161583	single nucleotide variant	NM_017875.4(SLC25A38):c.166C>A (p.Gln56Lys)	Sideroblastic anemia 2 [RCV001526380]	pathogenic	3	39389591	39389591	Human	1	name
127327056	CV1161584	single nucleotide variant	NM_017875.4(SLC25A38):c.175C>T (p.Gln59Ter)	Sideroblastic anemia 2 [RCV001526363]	pathogenic	3	39389600	39389600	Human	1	name
127327074	CV1161587	single nucleotide variant	NM_017875.4(SLC25A38):c.260G>A (p.Trp87Ter)	Sideroblastic anemia 2 [RCV001526373]	pathogenic	3	39390491	39390491	Human	1	name
127327068	CV1161591	single nucleotide variant	NM_017875.4(SLC25A38):c.281T>A (p.Ile94Asn)	Sideroblastic anemia 2 [RCV001526370]	pathogenic	3	39391445	39391445	Human	1	name
127327034	CV1161595	deletion	NM_017875.4(SLC25A38):c.362del (p.Pro121fs)	Sideroblastic anemia 2 [RCV001526350]	pathogenic	3	39391522	39391522	Human	1	name
127327094	CV1161599	duplication	NM_017875.4(SLC25A38):c.409dup (p.Ala137fs)	Sideroblastic anemia 2 [RCV001526383]\|not provided [RCV002568127]	pathogenic	3	39391572	39391573	Human	1	name
127327039	CV1161604	deletion	NM_017875.4(SLC25A38):c.475del (p.Glu159fs)	Sideroblastic anemia 2 [RCV001526353]	pathogenic	3	39391871	39391871	Human	1	name
127327049	CV1161605	duplication	NM_017875.4(SLC25A38):c.480dup (p.Ile161fs)	Sideroblastic anemia 2 [RCV001526359]	pathogenic	3	39391875	39391876	Human	1	name
127327044	CV1161616	duplication	NM_017875.4(SLC25A38):c.809dup (p.Phe271fs)	Sideroblastic anemia 2 [RCV001526356]	pathogenic	3	39396412	39396413	Human	1	name
127327079	CV1161619	deletion	NM_017875.4(SLC25A38):c.858del (p.Ala287fs)	Sideroblastic anemia 2 [RCV001526376]	pathogenic	3	39396463	39396463	Human	1	name
150549589	CV1295332	single nucleotide variant	NM_017875.4(SLC25A38):c.101G>C (p.Gly34Ala)	not provided [RCV001765232]	uncertain significance	3	39389526	39389526	Human		name
151717694	CV1380555	single nucleotide variant	NM_017875.4(SLC25A38):c.274C>T (p.Pro92Ser)	Inborn genetic diseases [RCV003365622]\|not provided [RCV002003167]	uncertain significance	3	39390505	39390505	Human	1	name
156416684	CV1901723	single nucleotide variant	NM_017875.4(SLC25A38):c.281T>C (p.Ile94Thr)	not provided [RCV002610308]	uncertain significance	3	39391445	39391445	Human		name
156167486	CV1930043	single nucleotide variant	NM_017875.4(SLC25A38):c.200G>A (p.Arg67His)	not provided [RCV002624600]	uncertain significance	3	39390431	39390431	Human		name
156398279	CV2013052	single nucleotide variant	NM_017875.4(SLC25A38):c.217G>A (p.Val73Ile)	not provided [RCV002725779]	uncertain significance	3	39390448	39390448	Human		name
156227632	CV2081183	single nucleotide variant	NM_017875.4(SLC25A38):c.238A>G (p.Thr80Ala)	not provided [RCV002853450]	uncertain significance	3	39390469	39390469	Human		name
156208495	CV2110398	single nucleotide variant	NM_017875.4(SLC25A38):c.239C>T (p.Thr80Met)	not provided [RCV002957649]	uncertain significance	3	39390470	39390470	Human		name
156277378	CV2209899	single nucleotide variant	NM_017875.4(SLC25A38):c.257T>C (p.Leu86Pro)	Inborn genetic diseases [RCV002669934]	uncertain significance	3	39390488	39390488	Human	1	name
11584997	CV290284	single nucleotide variant	NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg)	Inborn genetic diseases [RCV002523257]\|Sideroblastic anemia 2 [RCV000330775]\|X-linked sideroblastic anemia 1 [RCV000278029]\|not provided [RCV000968454]\|not specified [RCV000425850]	benign\|likely benign\|uncertain significance	3	39390470	39390470	Human	3	name
11582874	CV294438	single nucleotide variant	NM_017875.4(SLC25A38):c.161G>A (p.Arg54His)	Inborn genetic diseases [RCV004021911]\|Sideroblastic anemia 2 [RCV000262660]\|X-linked sideroblastic anemia 1 [RCV000357294]\|not provided [RCV001591002]	uncertain significance	3	39389586	39389586	Human	3	name
405100628	CV2948068	single nucleotide variant	NM_017875.4(SLC25A38):c.200G>T (p.Arg67Leu)	not provided [RCV003666077]	uncertain significance	3	39390431	39390431	Human		name
405135479	CV3052110	single nucleotide variant	NM_017875.4(SLC25A38):c.289T>C (p.Cys97Arg)	not provided [RCV003725200]	uncertain significance	3	39391453	39391453	Human		name
405707440	CV3225381	single nucleotide variant	NM_017875.4(SLC25A38):c.275C>G (p.Pro92Arg)	Sideroblastic anemia 2 [RCV003990435]	likely pathogenic	3	39390506	39390506	Human	1	name
408394551	CV3521469	duplication	NM_017875.4(SLC25A38):c.803dup (p.Arg269fs)	Sideroblastic anemia 2 [RCV004764266]	likely pathogenic\|uncertain significance	3	39396407	39396408	Human	1	name
408392338	CV3528099	single nucleotide variant	NM_017875.4(SLC25A38):c.158C>G (p.Thr53Arg)	not provided [RCV004775867]	uncertain significance	3	39389583	39389583	Human		name
12742515	CV359522	single nucleotide variant	NM_017875.4(SLC25A38):c.166C>T (p.Gln56Ter)	not provided [RCV000413840]	pathogenic	3	39389591	39389591	Human		name
597639594	CV3606373	single nucleotide variant	NM_017875.4(SLC25A38):c.251T>C (p.Leu84Ser)	Inborn genetic diseases [RCV004971257]	uncertain significance	3	39390482	39390482	Human	1	name
12837665	CV367565	single nucleotide variant	NM_017875.4(SLC25A38):c.196A>G (p.Arg66Gly)	SLC25A38-related disorder [RCV004539826]\|Sideroblastic anemia 2 [RCV001150973]\|not provided [RCV001703762]	benign\|likely benign	3	39390427	39390427	Human	1	name , trait , alternate_id
597948583	CV3759188	single nucleotide variant	NM_017875.4(SLC25A38):c.191G>C (p.Gly64Ala)	not provided [RCV005078985]	uncertain significance	3	39389616	39389616	Human		name
28885805	CV888876	single nucleotide variant	NM_017875.4(SLC25A38):c.199C>T (p.Arg67Cys)	Inborn genetic diseases [RCV002557255]\|Sideroblastic anemia 2 [RCV001150974]\|not provided [RCV001555048]	uncertain significance	3	39390430	39390430	Human	2	name
28869284	CV888877	single nucleotide variant	NM_017875.4(SLC25A38):c.280A>G (p.Ile94Val)	Sideroblastic anemia 2 [RCV001144862]	uncertain significance	3	39391444	39391444	Human	1	name
127327045	CV1161592	single nucleotide variant	NM_017875.4(SLC25A38):c.305G>A (p.Gly102Glu)	Sideroblastic anemia 2 [RCV001526357]	pathogenic	3	39391469	39391469	Human	1	name
127327035	CV1161596	single nucleotide variant	NM_017875.4(SLC25A38):c.388G>A (p.Gly130Arg)	Sideroblastic anemia 2 [RCV001526351]	pathogenic	3	39391552	39391552	Human	1	name
127327061	CV1161597	single nucleotide variant	NM_017875.4(SLC25A38):c.389G>A (p.Gly130Glu)	Sideroblastic anemia 2 [RCV001526366]	pathogenic	3	39391553	39391553	Human	1	name
127327054	CV1161598	single nucleotide variant	NM_017875.4(SLC25A38):c.401G>A (p.Arg134His)	Sideroblastic anemia 2 [RCV001526362]	pathogenic	3	39391565	39391565	Human	1	name
127327089	CV1161601	single nucleotide variant	NM_017875.4(SLC25A38):c.440T>A (p.Ile147Asn)	Sideroblastic anemia 2 [RCV001526381]	pathogenic	3	39391604	39391604	Human	1	name
127327070	CV1161603	single nucleotide variant	NM_017875.4(SLC25A38):c.469G>C (p.Gly157Arg)	Sideroblastic anemia 2 [RCV001526371]	pathogenic	3	39391865	39391865	Human	1	name
127327050	CV1161606	single nucleotide variant	NM_017875.4(SLC25A38):c.560G>A (p.Arg187Gln)	Sideroblastic anemia 2 [RCV001526360]\|not provided [RCV003558832]	pathogenic\|uncertain significance	3	39391956	39391956	Human	1	name
127327095	CV1161607	single nucleotide variant	NM_017875.4(SLC25A38):c.562G>C (p.Asp188His)	Sideroblastic anemia 2 [RCV001526384]	pathogenic	3	39391958	39391958	Human	1	name
127327063	CV1161608	single nucleotide variant	NM_017875.4(SLC25A38):c.569C>G (p.Pro190Arg)	Sideroblastic anemia 2 [RCV001526367]\|not provided [RCV005094713]	pathogenic\|uncertain significance	3	39391965	39391965	Human	1	name
127327091	CV1161609	single nucleotide variant	NM_017875.4(SLC25A38):c.587T>C (p.Leu196Pro)	Sideroblastic anemia 2 [RCV001526382]	pathogenic	3	39391983	39391983	Human	1	name
127327067	CV1161613	single nucleotide variant	NM_017875.4(SLC25A38):c.683G>T (p.Gly228Val)	Sideroblastic anemia 2 [RCV001526369]\|not provided [RCV001751785]	pathogenic\|uncertain significance	3	39394467	39394467	Human	1	name
127327073	CV1161614	single nucleotide variant	NM_017875.4(SLC25A38):c.689T>C (p.Leu230Pro)	Sideroblastic anemia 2 [RCV001526372]	pathogenic	3	39394473	39394473	Human	1	name
127327064	CV1161617	single nucleotide variant	NM_017875.4(SLC25A38):c.832C>G (p.Arg278Gly)	Sideroblastic anemia 2 [RCV001526368]	pathogenic	3	39396437	39396437	Human	1	name
127327057	CV1161618	single nucleotide variant	NM_017875.4(SLC25A38):c.832C>T (p.Arg278Ter)	Sideroblastic anemia 2 [RCV001526364]\|not provided [RCV004697134]	pathogenic\|likely pathogenic	3	39396437	39396437	Human	1	name
127327085	CV1161620	single nucleotide variant	NM_017875.4(SLC25A38):c.879T>G (p.Tyr293Ter)	Sideroblastic anemia 2 [RCV001526379]	pathogenic	3	39396484	39396484	Human	1	name
127327047	CV1161621	single nucleotide variant	NM_017875.4(SLC25A38):c.913T>C (p.Ter305Arg)	Sideroblastic anemia 2 [RCV001526358]	pathogenic	3	39396518	39396518	Human	1	name
151871662	CV1392829	single nucleotide variant	NM_017875.4(SLC25A38):c.391G>A (p.Val131Met)	Inborn genetic diseases [RCV004970462]\|not provided [RCV001925301]	uncertain significance	3	39391555	39391555	Human	1	name
151819315	CV1490360	single nucleotide variant	NM_017875.4(SLC25A38):c.805C>T (p.Arg269Cys)	Inborn genetic diseases [RCV004043722]\|not provided [RCV001992610]	uncertain significance	3	39396410	39396410	Human	1	name
151710272	CV1511767	single nucleotide variant	NM_017875.4(SLC25A38):c.796T>G (p.Tyr266Asp)	not provided [RCV002001814]	uncertain significance	3	39396401	39396401	Human		name
151786047	CV1513511	single nucleotide variant	NM_017875.4(SLC25A38):c.911C>T (p.Ser304Phe)	not provided [RCV001916332]	uncertain significance	3	39396516	39396516	Human		name
8595312	CV16157	single nucleotide variant	NM_017875.4(SLC25A38):c.349C>T (p.Arg117Ter)	Sideroblastic anemia 2 [RCV000001177]\|not provided [RCV000760470]	pathogenic	3	39391513	39391513	Human	1	name
8595313	CV16159	single nucleotide variant	NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro)	Sideroblastic anemia 2 [RCV000001179]\|not provided [RCV002512636]	pathogenic\|likely pathogenic\|uncertain significance	3	39391956	39391956	Human	1	name
8595314	CV16161	single nucleotide variant	NM_017875.4(SLC25A38):c.790A>T (p.Lys264Ter)	Sideroblastic anemia 2 [RCV000001181]	pathogenic	3	39394574	39394574	Human	1	name
153302054	CV1689429	single nucleotide variant	NM_017875.4(SLC25A38):c.524G>A (p.Arg175Gln)	not provided [RCV002267379]	uncertain significance	3	39391920	39391920	Human		name
155905715	CV1975994	single nucleotide variant	NM_017875.4(SLC25A38):c.655A>G (p.Thr219Ala)	not provided [RCV002613661]	uncertain significance	3	39394439	39394439	Human		name
156179632	CV2072233	single nucleotide variant	NM_017875.4(SLC25A38):c.728C>T (p.Thr243Ile)	not provided [RCV002851796]	uncertain significance	3	39394512	39394512	Human		name
156218877	CV2084609	single nucleotide variant	NM_017875.4(SLC25A38):c.454G>T (p.Glu152Ter)	not provided [RCV002853131]	pathogenic	3	39391618	39391618	Human		name
156141431	CV2109949	single nucleotide variant	NM_017875.4(SLC25A38):c.458G>A (p.Ser153Asn)	not provided [RCV002928569]	likely benign\|conflicting interpretations of pathogenicity	3	39391854	39391854	Human		name
156009868	CV2124507	single nucleotide variant	NM_017875.4(SLC25A38):c.872C>T (p.Thr291Met)	Inborn genetic diseases [RCV002948203]\|not provided [RCV002923749]	uncertain significance	3	39396477	39396477	Human	1	name
155902015	CV2126999	single nucleotide variant	NM_017875.4(SLC25A38):c.752A>G (p.Lys251Arg)	Inborn genetic diseases [RCV002967480]\|not provided [RCV002967479]	uncertain significance	3	39394536	39394536	Human	1	name
156402981	CV2189670	single nucleotide variant	NM_017875.4(SLC25A38):c.384G>A (p.Met128Ile)	not provided [RCV003052504]	uncertain significance	3	39391548	39391548	Human		name
156096453	CV2210458	single nucleotide variant	NM_017875.4(SLC25A38):c.367G>A (p.Ala123Thr)	Inborn genetic diseases [RCV002661682]	uncertain significance	3	39391531	39391531	Human	1	name
156188181	CV2302842	single nucleotide variant	NM_017875.4(SLC25A38):c.713C>T (p.Ala238Val)	Inborn genetic diseases [RCV002892376]	uncertain significance	3	39394497	39394497	Human	1	name
156061697	CV2380276	single nucleotide variant	NM_017875.4(SLC25A38):c.566C>T (p.Ala189Val)	Inborn genetic diseases [RCV002693459]\|not provided [RCV004719306]	uncertain significance	3	39391962	39391962	Human	1	name
11586707	CV290285	single nucleotide variant	NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met)	Inborn genetic diseases [RCV005278555]\|Sideroblastic anemia 2 [RCV000289603]\|X-linked sideroblastic anemia 1 [RCV000342131]	uncertain significance	3	39391610	39391610	Human	3	name
11588234	CV290291	single nucleotide variant	NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe)	Inborn genetic diseases [RCV004021912]\|Refractory anemia with ringed sideroblasts [RCV000353474]\|Sideroblastic anemia 2 [RCV000301219]\|not provided [RCV001552246]	uncertain significance	3	39394436	39394436	Human	3	name
11593382	CV291128	single nucleotide variant	NM_017875.4(SLC25A38):c.382A>G (p.Met128Val)	SLC25A38-related disorder [RCV004530392]\|Sideroblastic anemia 2 [RCV000381674]\|X-linked sideroblastic anemia 1 [RCV000348119]\|not provided [RCV000888509]\|not specified [RCV000418470]	benign\|likely benign	3	39391546	39391546	Human	2	name , trait , alternate_id
405699497	CV3227196	single nucleotide variant	NM_017875.4(SLC25A38):c.584A>G (p.Tyr195Cys)	Sideroblastic anemia 2 [RCV003993547]	uncertain significance	3	39391980	39391980	Human	1	name
405657298	CV3228482	single nucleotide variant	NM_017875.4(SLC25A38):c.559C>T (p.Arg187Ter)	Sideroblastic anemia 2 [RCV004006217]	pathogenic	3	39391955	39391955	Human	1	name
405768348	CV3321717	single nucleotide variant	NM_017875.4(SLC25A38):c.331T>G (p.Leu111Val)	Inborn genetic diseases [RCV004456536]	uncertain significance	3	39391495	39391495	Human	1	name
405768360	CV3321719	single nucleotide variant	NM_017875.4(SLC25A38):c.452A>G (p.Tyr151Cys)	Inborn genetic diseases [RCV004456538]	uncertain significance	3	39391616	39391616	Human	1	name
405768371	CV3321721	single nucleotide variant	NM_017875.4(SLC25A38):c.796T>A (p.Tyr266Asn)	Inborn genetic diseases [RCV004456540]	uncertain significance	3	39396401	39396401	Human	1	name
405768377	CV3321722	single nucleotide variant	NM_017875.4(SLC25A38):c.829C>G (p.Pro277Ala)	Inborn genetic diseases [RCV004456541]	uncertain significance	3	39396434	39396434	Human	1	name
596924291	CV3532188	single nucleotide variant	NM_017875.4(SLC25A38):c.523C>T (p.Arg175Trp)	not provided [RCV004777299]	uncertain significance	3	39391919	39391919	Human		name
597639589	CV3606372	single nucleotide variant	NM_017875.4(SLC25A38):c.517G>A (p.Gly173Arg)	Inborn genetic diseases [RCV004971256]	uncertain significance	3	39391913	39391913	Human	1	name
597639597	CV3606374	single nucleotide variant	NM_017875.4(SLC25A38):c.451T>A (p.Tyr151Asn)	Inborn genetic diseases [RCV004971258]	uncertain significance	3	39391615	39391615	Human	1	name
597639601	CV3606375	single nucleotide variant	NM_017875.4(SLC25A38):c.379G>A (p.Val127Ile)	Inborn genetic diseases [RCV004971259]	likely benign	3	39391543	39391543	Human	1	name
597639604	CV3606376	single nucleotide variant	NM_017875.4(SLC25A38):c.614T>C (p.Ile205Thr)	Inborn genetic diseases [RCV004971260]	uncertain significance	3	39392010	39392010	Human	1	name
597716629	CV3717488	single nucleotide variant	NM_017875.4(SLC25A38):c.448C>T (p.Arg150Cys)	Sideroblastic anemia 2 [RCV005035317]	likely pathogenic	3	39391612	39391612	Human	1	name
597655623	CV3731500	single nucleotide variant	NM_017875.4(SLC25A38):c.813C>A (p.Phe271Leu)	not provided [RCV005001681]	uncertain significance	3	39396418	39396418	Human		name
597877170	CV3744226	single nucleotide variant	NM_017875.4(SLC25A38):c.478A>G (p.Ser160Gly)	not provided [RCV005069440]	uncertain significance	3	39391874	39391874	Human		name
597898990	CV3821190	single nucleotide variant	NM_017875.4(SLC25A38):c.314T>C (p.Phe105Ser)	not provided [RCV005173848]	uncertain significance	3	39391478	39391478	Human		name
598129460	CV3888758	single nucleotide variant	NM_017875.4(SLC25A38):c.673A>T (p.Ile225Leu)	not provided [RCV005244932]	uncertain significance	3	39394457	39394457	Human		name
598169020	CV3918251	single nucleotide variant	NM_017875.4(SLC25A38):c.350G>T (p.Arg117Leu)	Inborn genetic diseases [RCV005284193]	uncertain significance	3	39391514	39391514	Human	1	name
14688145	CV620125	single nucleotide variant	NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys)	Sideroblastic anemia 2 [RCV000778697]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	3	39391564	39391564	Human	1	name
14688146	CV620126	single nucleotide variant	NM_017875.4(SLC25A38):c.625G>C (p.Asp209His)	Sideroblastic anemia 2 [RCV000778698]	pathogenic\|likely pathogenic	3	39392021	39392021	Human	1	name
28869286	CV888878	single nucleotide variant	NM_017875.4(SLC25A38):c.302T>C (p.Val101Ala)	Inborn genetic diseases [RCV004963151]\|Sideroblastic anemia 2 [RCV001144863]\|not provided [RCV002557097]	uncertain significance	3	39391466	39391466	Human	2	name
28873625	CV888880	single nucleotide variant	NM_017875.4(SLC25A38):c.625G>A (p.Asp209Asn)	Sideroblastic anemia 2 [RCV001146842]	uncertain significance	3	39392021	39392021	Human	1	name
127327028	CV1161585	deletion	NM_017875.4(SLC25A38):c.207_214del (p.Met70fs)	Sideroblastic anemia 2 [RCV001526347]	pathogenic	3	39390432	39390439	Human	1	name
127327081	CV1161586	deletion	NM_017875.4(SLC25A38):c.227_236del (p.Lys76fs)	Sideroblastic anemia 2 [RCV001526377]	pathogenic	3	39390458	39390467	Human	1	name
405176992	CV3146950	microsatellite	NM_017875.4(SLC25A38):c.122_123del (p.Ser41fs)	SLC25A38-related disorder [RCV004542301]\|not provided [RCV003842046]	pathogenic\|likely pathogenic	3	39389545	39389546	Human		name , trait , alternate_id
127327058	CV1161594	deletion	NM_017875.4(SLC25A38):c.336_346del (p.Lys112fs)	Sideroblastic anemia 2 [RCV001526365]	pathogenic	3	39391500	39391510	Human	1	name
127327041	CV1161611	deletion	NM_017875.4(SLC25A38):c.669_682del (p.Cys223fs)	Sideroblastic anemia 2 [RCV001526354]\|not provided [RCV001873705]	pathogenic\|uncertain significance	3	39394449	39394462	Human	1	name
8555985	CV16158	microsatellite	NM_017875.4(SLC25A38):c.324_325del (p.Tyr109fs)	SLC25A38-related disorder [RCV000778696]\|Sideroblastic anemia 2 [RCV000001178]\|not provided [RCV001588793]	pathogenic\|likely pathogenic	3	39391484	39391485	Human		name , trait , alternate_id
127327053	CV1161612	indel	NM_017875.4(SLC25A38):c.672delinsTT (p.Ile225fs)	Sideroblastic anemia 2 [RCV001526361]	pathogenic	3	39394456	39394456	Human		name
21072333	CV792736	insertion	NM_017875.4(SLC25A38):c.671_672insT (p.Ile225fs)	Sideroblastic anemia 2 [RCV000991416]	likely pathogenic	3	39394455	39394456	Human	1	name
127327076	CV1161600	indel	NM_017875.4(SLC25A38):c.429_431delinsAG (p.Ile144fs)	Sideroblastic anemia 2 [RCV001526374]	pathogenic	3	39391593	39391595	Human		name
127327078	CV1161593	deletion	NM_017875.4(SLC25A38):c.324_330del (p.Leu108_Tyr109insTer)	Sideroblastic anemia 2 [RCV001526375]	pathogenic	3	39391483	39391489	Human	1	name
150422251	CV1193313	indel	NM_017875.4(SLC25A38):c.475_486delinsAAAGGAACCAA (p.Glu159fs)	not provided [RCV001570941]	pathogenic	3	39391871	39391882	Human		name

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