Slc25a19 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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183 records found for search term Slc25a19

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11627215	CV345837	single nucleotide variant	NM_021734.4(SLC25A19):c.-201T>A	Amish lethal microcephaly [RCV000277553]	likely benign\|uncertain significance	17	75289442	75289442	Human	1	name
8660704	CV135774	single nucleotide variant	NM_001126121.2(SLC25A19):c.*2T>C	Amish lethal microcephaly [RCV000327662]\|Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV001807078]\|not provided [RCV000676626]\|not specified [RCV000118365]	benign\|likely benign	17	75273449	75273449	Human	2	name
405258919	CV3215215	single nucleotide variant	NM_001126121.2(SLC25A19):c.*4C>T	SLC25A19-related disorder [RCV003942255]	likely benign	17	75273447	75273447	Human		name , trait , alternate_id
28900782	CV878416	single nucleotide variant	NM_001126121.2(SLC25A19):c.*96G>C	Amish lethal microcephaly [RCV001124498]\|not provided [RCV001570238]	likely benign	17	75273355	75273355	Human	1	name
11624030	CV329814	single nucleotide variant	NM_001126121.2(SLC25A19):c.*200G>A	Amish lethal microcephaly [RCV000380971]\|not provided [RCV001590962]	benign\|likely benign\|uncertain significance	17	75273251	75273251	Human	1	name
11629777	CV345823	single nucleotide variant	NM_001126121.2(SLC25A19):c.*274C>G	Amish lethal microcephaly [RCV000333409]\|not provided [RCV001636917]	benign\|likely benign	17	75273177	75273177	Human	8	name
11629777	CV345823	single nucleotide variant	NM_001126121.2(SLC25A19):c.*274C>G	Amish lethal microcephaly [RCV000333409]\|not provided [RCV001636917]	benign\|likely benign	17	75273177	75273178	Human	8	name
11627779	CV345826	single nucleotide variant	NM_001126121.2(SLC25A19):c.*113G>C	Amish lethal microcephaly [RCV000288974]	uncertain significance	17	75273338	75273338	Human	1	name
11627097	CV347209	single nucleotide variant	NM_001126121.2(SLC25A19):c.*437T>G	Amish lethal microcephaly [RCV000275329]\|not provided [RCV004709742]	benign\|likely benign	17	75273014	75273014	Human	1	name
11628940	CV347217	single nucleotide variant	NM_001126121.2(SLC25A19):c.-155T>G	Amish lethal microcephaly [RCV000312441]\|not provided [RCV001709597]	benign\|likely benign	17	75289380	75289380	Human	1	name
28897930	CV878411	single nucleotide variant	NM_001126121.2(SLC25A19):c.*408C>T	Amish lethal microcephaly [RCV001123391]	uncertain significance	17	75273043	75273043	Human	1	name
28897934	CV878412	single nucleotide variant	NM_001126121.2(SLC25A19):c.*384C>T	Amish lethal microcephaly [RCV001123392]	uncertain significance	17	75273067	75273067	Human	1	name
28897949	CV878413	single nucleotide variant	NM_001126121.2(SLC25A19):c.*301C>T	Amish lethal microcephaly [RCV001123393]	likely benign	17	75273150	75273150	Human	1	name
28897952	CV878414	single nucleotide variant	NM_001126121.2(SLC25A19):c.*292A>G	Amish lethal microcephaly [RCV001123394]	uncertain significance	17	75273159	75273159	Human	1	name
28900779	CV878415	single nucleotide variant	NM_001126121.2(SLC25A19):c.*164G>A	Amish lethal microcephaly [RCV001124497]	benign	17	75273287	75273287	Human	1	name
28907465	CV878418	single nucleotide variant	NM_001126121.2(SLC25A19):c.-170G>A	Amish lethal microcephaly [RCV001127609]	uncertain significance	17	75289395	75289395	Human	1	name
151821809	CV1415543	single nucleotide variant	NM_001126121.2(SLC25A19):c.644-3C>A	not provided [RCV001900956]	uncertain significance	17	75277486	75277486	Human		name
156326466	CV1887260	single nucleotide variant	NM_001126121.2(SLC25A19):c.774+7C>T	not provided [RCV003089520]	likely benign	17	75277346	75277346	Human		name
156157032	CV1954438	deletion	NM_001126121.2(SLC25A19):c.288+5del	not provided [RCV002573089]	uncertain significance	17	75286299	75286299	Human		name
156026129	CV2055828	single nucleotide variant	NM_001126121.2(SLC25A19):c.133-1G>T	not provided [RCV002820854]	uncertain significance	17	75286460	75286460	Human		name
156126736	CV2088430	single nucleotide variant	NM_001126121.2(SLC25A19):c.459+4A>G	not provided [RCV002871480]	uncertain significance	17	75283419	75283419	Human		name
405101481	CV2948199	single nucleotide variant	NM_001126121.2(SLC25A19):c.133-8A>G	not provided [RCV003666161]	likely benign	17	75286467	75286467	Human		name
405235150	CV3071321	single nucleotide variant	NM_001126121.2(SLC25A19):c.774+8G>A	not provided [RCV003735755]	likely benign	17	75277345	75277345	Human		name
405210358	CV3146186	single nucleotide variant	NM_001126121.2(SLC25A19):c.775-6C>T	not provided [RCV003845717]	likely benign	17	75273645	75273645	Human		name
597678274	CV3730890	inversion	NM_001126121.2(SLC25A19):c.2_3inv	not provided [RCV004997777]	uncertain significance	17	75273448	75273449	Human		name
12840325	CV378773	single nucleotide variant	NM_001126121.2(SLC25A19):c.133-5C>T	not provided [RCV002522453]\|not specified [RCV000430480]	likely benign	17	75286464	75286464	Human		name
13526735	CV506407	single nucleotide variant	NM_001126121.2(SLC25A19):c.288+8G>C	Amish lethal microcephaly [RCV001125511]\|SLC25A19-related disorder [RCV003905577]\|not provided [RCV000967667]\|not specified [RCV000604537]	benign\|likely benign	17	75286296	75286296	Human	1	name , trait , alternate_id
15015153	CV679831	single nucleotide variant	NM_001126121.2(SLC25A19):c.775-1G>C	Amish lethal microcephaly [RCV000853269]	pathogenic	17	75273640	75273640	Human	1	name
127295355	CV1158125	single nucleotide variant	NM_001126121.2(SLC25A19):c.643+18C>T	not provided [RCV001512149]	benign	17	75278134	75278134	Human		name
150466176	CV1201201	single nucleotide variant	NM_001126121.2(SLC25A19):c.459+22C>T	not provided [RCV001587681]	likely benign	17	75283401	75283401	Human		name
150496555	CV1206120	single nucleotide variant	NM_001126121.2(SLC25A19):c.460-31G>C	not provided [RCV001593802]	likely benign	17	75278366	75278366	Human		name
150487129	CV1225857	duplication	NM_001126121.2(SLC25A19):c.460-88dup	not provided [RCV001618018]	benign	17	75278419	75278420	Human		name
150446216	CV1250636	single nucleotide variant	NM_001126121.2(SLC25A19):c.-38-79G>T	not provided [RCV001667140]	benign	17	75286881	75286881	Human		name
150492006	CV1280767	single nucleotide variant	NM_001126121.2(SLC25A19):c.289-26G>A	Amish lethal microcephaly [RCV001807517]\|Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV001807518]\|not provided [RCV001716735]	benign	17	75283619	75283619	Human	2	name
150492141	CV1280853	single nucleotide variant	NM_001126121.2(SLC25A19):c.643+52A>G	not provided [RCV001716757]	benign	17	75278100	75278100	Human		name
150478250	CV1281896	single nucleotide variant	NM_001126121.2(SLC25A19):c.288+86G>A	not provided [RCV001714264]	benign	17	75286218	75286218	Human		name
150478256	CV1281897	single nucleotide variant	NM_001126121.2(SLC25A19):c.132+78G>A	not provided [RCV001714265]	benign	17	75286555	75286555	Human		name
156325437	CV1980532	single nucleotide variant	NM_001126121.2(SLC25A19):c.460-17T>C	not provided [RCV002630625]	likely benign	17	75278352	75278352	Human		name
156317262	CV2018078	single nucleotide variant	NM_001126121.2(SLC25A19):c.288+19G>C	not provided [RCV002671972]	likely benign	17	75286285	75286285	Human		name
156213362	CV2088816	single nucleotide variant	NM_001126121.2(SLC25A19):c.460-20A>T	not provided [RCV002893886]	likely benign	17	75278355	75278355	Human		name
405188399	CV2917846	single nucleotide variant	NM_001126121.2(SLC25A19):c.460-15C>G	not provided [RCV003564652]	likely benign	17	75278350	75278350	Human		name
405010502	CV2933575	single nucleotide variant	NM_001126121.2(SLC25A19):c.644-18C>A	not provided [RCV003576692]	likely benign	17	75277501	75277501	Human		name
405205590	CV3068251	single nucleotide variant	NM_001126121.2(SLC25A19):c.132+13T>C	not provided [RCV003731291]	likely benign	17	75286620	75286620	Human		name
11631144	CV345835	microsatellite	NM_001126121.2(SLC25A19):c.-173AG[2]	Amish lethal microcephaly [RCV000369527]\|not provided [RCV001696211]	benign\|likely benign	17	75289391	75289394	Human		name
12837292	CV376576	single nucleotide variant	NM_001126121.2(SLC25A19):c.460-14G>A	not provided [RCV002521604]\|not specified [RCV000424914]	likely benign	17	75278349	75278349	Human		name
597871441	CV3849323	single nucleotide variant	NM_001126121.2(SLC25A19):c.289-14A>C	not provided [RCV005197504]	likely benign	17	75283607	75283607	Human		name
13535515	CV506186	single nucleotide variant	NM_001126121.2(SLC25A19):c.644-17C>T	not specified [RCV000607833]	likely benign	17	75277500	75277500	Human		name
13533109	CV506395	single nucleotide variant	NM_001126121.2(SLC25A19):c.775-11C>T	not specified [RCV000601568]	likely benign	17	75273650	75273650	Human		name
13535870	CV506401	single nucleotide variant	NM_001126121.2(SLC25A19):c.643+19G>A	not provided [RCV002064092]\|not specified [RCV000608173]	benign\|likely benign	17	75278133	75278133	Human		name
13525172	CV506416	single nucleotide variant	NM_001126121.2(SLC25A19):c.-38-18C>T	not specified [RCV000602797]	likely benign	17	75286820	75286820	Human		name
150421542	CV1195247	deletion	NM_001126121.2(SLC25A19):c.-128-64del	not provided [RCV001570587]	likely benign	17	75288655	75288655	Human		name
150432986	CV1203494	single nucleotide variant	NM_001126121.2(SLC25A19):c.289-304G>A	not provided [RCV001581649]	likely benign	17	75283897	75283897	Human		name
150475471	CV1237799	single nucleotide variant	NM_001126121.2(SLC25A19):c.460-199A>G	not provided [RCV001651920]	benign	17	75278534	75278534	Human		name
150483676	CV1245150	single nucleotide variant	NM_001126121.2(SLC25A19):c.774+129T>C	not provided [RCV001653327]	benign	17	75277224	75277224	Human		name
150502084	CV1255198	single nucleotide variant	NM_001126121.2(SLC25A19):c.-128-95G>T	not provided [RCV001677117]	benign	17	75288686	75288686	Human		name
150451445	CV1276596	single nucleotide variant	NM_001126121.2(SLC25A19):c.289-267T>C	not provided [RCV001708385]	benign	17	75283860	75283860	Human		name
150478415	CV1281947	duplication	NM_001126121.2(SLC25A19):c.-128-81dup	not provided [RCV001714291]	benign	17	75288654	75288655	Human		name
150478547	CV1281990	single nucleotide variant	NM_001126121.2(SLC25A19):c.460-142C>T	not provided [RCV001714313]	benign	17	75278477	75278477	Human		name
150515397	CV1285527	single nucleotide variant	NM_001126121.2(SLC25A19):c.288+179G>A	not provided [RCV001722980]	benign	17	75286125	75286125	Human		name
14730280	CV669349	single nucleotide variant	NM_001126121.2(SLC25A19):c.774+131C>G	not provided [RCV000835603]	benign	17	75277222	75277222	Human		name
150479239	CV1239351	single nucleotide variant	NM_001126121.2(SLC25A19):c.-129+101C>G	not provided [RCV001652513]	benign	17	75289253	75289253	Human		name
150513368	CV1228986	microsatellite	NM_001126121.2(SLC25A19):c.775-131AATAA[3]	not provided [RCV001637828]	benign	17	75273760	75273761	Human		name
156049141	CV1884293	single nucleotide variant	NM_001126121.2(SLC25A19):c.66G>T (p.Gly22=)	not provided [RCV003078806]	likely benign	17	75286699	75286699	Human		name
405119350	CV2891484	single nucleotide variant	NM_001126121.2(SLC25A19):c.60G>A (p.Val20=)	not provided [RCV003558893]	likely benign	17	75286705	75286705	Human		name
13836943	CV588226	single nucleotide variant	NM_001126121.2(SLC25A19):c.93G>A (p.Ala31=)	Amish lethal microcephaly [RCV001127608]\|not provided [RCV000733201]	conflicting interpretations of pathogenicity\|uncertain significance	17	75286672	75286672	Human	1	name
15178159	CV771815	single nucleotide variant	NM_001126121.2(SLC25A19):c.75T>G (p.Ser25=)	not provided [RCV000929328]	likely benign	17	75286690	75286690	Human		name
152047993	CV1519846	single nucleotide variant	NM_001126121.2(SLC25A19):c.207T>C (p.Ile69=)	not provided [RCV002145308]	likely benign	17	75286385	75286385	Human		name
156352080	CV1870206	single nucleotide variant	NM_001126121.2(SLC25A19):c.219G>A (p.Glu73=)	not provided [RCV003064936]	likely benign	17	75286373	75286373	Human		name
156015189	CV1885131	single nucleotide variant	NM_001126121.2(SLC25A19):c.111C>T (p.Asp37=)	not provided [RCV003077320]	likely benign	17	75286654	75286654	Human		name
156294780	CV1922985	single nucleotide variant	NM_001126121.2(SLC25A19):c.108C>T (p.Phe36=)	not provided [RCV002647354]	likely benign	17	75286657	75286657	Human		name
10052216	CV194492	single nucleotide variant	NM_001126121.2(SLC25A19):c.135T>A (p.Leu45=)	Amish lethal microcephaly [RCV000356684]\|not provided [RCV000178331]	conflicting interpretations of pathogenicity\|uncertain significance	17	75286457	75286457	Human	1	name
11616984	CV329819	single nucleotide variant	NM_001126121.2(SLC25A19):c.246C>T (p.His82=)	Amish lethal microcephaly [RCV000299698]\|not provided [RCV003698766]\|not specified [RCV000607404]	benign\|likely benign\|uncertain significance	17	75286346	75286346	Human	1	name
11632112	CV347211	single nucleotide variant	NM_001126121.2(SLC25A19):c.20A>G (p.Lys7Arg)	Amish lethal microcephaly [RCV000398797]\|Inborn genetic diseases [RCV004021711]\|not provided [RCV000808854]	uncertain significance	17	75286745	75286745	Human	2	name
597868541	CV3838844	single nucleotide variant	NM_001126121.2(SLC25A19):c.240A>G (p.Lys80=)	not provided [RCV005176140]	likely benign	17	75286352	75286352	Human		name
150454518	CV1220000	deletion	NM_001126121.2(SLC25A19):c.289-276_289-275del	not provided [RCV001612382]	benign	17	75283868	75283869	Human		name
150505210	CV1222835	duplication	NM_001126121.2(SLC25A19):c.-128-81_-128-80dup	not provided [RCV001621769]	benign	17	75288654	75288655	Human		name
8660706	CV135777	single nucleotide variant	NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=)	Amish lethal microcephaly [RCV000334842]\|Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV001807079]\|not provided [RCV000676629]\|not specified [RCV000118368]	benign\|likely benign	17	75283543	75283543	Human	2	name
8657679	CV135778	single nucleotide variant	NM_001126121.2(SLC25A19):c.414C>T (p.Pro138=)	not specified [RCV000118369]	benign\|likely benign\|conflicting interpretations of pathogenicity	17	75283468	75283468	Human		name
8660707	CV135779	single nucleotide variant	NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=)	SLC25A19-related disorder [RCV003905128]\|not provided [RCV000725778]\|not specified [RCV000118370]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	75277377	75277377	Human	1	name , trait , alternate_id
8660708	CV135780	single nucleotide variant	NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=)	Amish lethal microcephaly [RCV000282825]\|Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV001807080]\|not provided [RCV000676627]\|not specified [RCV000118371]	benign\|likely benign	17	75273595	75273595	Human	2	name
153301386	CV1687768	single nucleotide variant	NM_001126121.2(SLC25A19):c.76G>A (p.Gly26Arg)	Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV002264845]	pathogenic	17	75286689	75286689	Human	1	name
156314742	CV1907162	single nucleotide variant	NM_001126121.2(SLC25A19):c.571C>T (p.Leu191=)	not provided [RCV003088654]	likely benign	17	75278224	75278224	Human		name
156303274	CV1934569	single nucleotide variant	NM_001126121.2(SLC25A19):c.333C>T (p.Ser111=)	SLC25A19-related disorder [RCV003946342]\|not provided [RCV002647751]	likely benign	17	75283549	75283549	Human	1	name , trait , alternate_id
10049009	CV195409	single nucleotide variant	NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=)	Amish lethal microcephaly [RCV000286760]\|not provided [RCV000756637]\|not specified [RCV000179519]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	75278312	75278312	Human	1	name
156139290	CV1959625	single nucleotide variant	NM_001126121.2(SLC25A19):c.342C>T (p.Asp114=)	not provided [RCV002572510]	likely benign	17	75283540	75283540	Human		name
156313067	CV2031704	single nucleotide variant	NM_001126121.2(SLC25A19):c.55G>A (p.Ala19Thr)	not provided [RCV002716648]	uncertain significance	17	75286710	75286710	Human		name
156215657	CV2039069	single nucleotide variant	NM_001126121.2(SLC25A19):c.477C>T (p.Arg159=)	not provided [RCV002766784]	likely benign	17	75278318	75278318	Human		name
155924195	CV2044871	single nucleotide variant	NM_001126121.2(SLC25A19):c.62C>A (p.Ala21Asp)	not provided [RCV002750855]	uncertain significance	17	75286703	75286703	Human		name
155972851	CV2062579	single nucleotide variant	NM_001126121.2(SLC25A19):c.91G>T (p.Ala31Ser)	not provided [RCV002842160]	uncertain significance	17	75286674	75286674	Human		name
156213118	CV2074347	single nucleotide variant	NM_001126121.2(SLC25A19):c.379C>T (p.Leu127=)	not provided [RCV002829377]	likely benign	17	75283503	75283503	Human		name
156352562	CV2157697	single nucleotide variant	NM_001126121.2(SLC25A19):c.792C>T (p.Gly264=)	not provided [RCV003030986]	likely benign	17	75273622	75273622	Human		name
11642222	CV270143	single nucleotide variant	NM_001126121.2(SLC25A19):c.504C>T (p.Ser168=)	Amish lethal microcephaly [RCV001125509]\|not provided [RCV000725746]\|not specified [RCV000370983]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	75278291	75278291	Human	1	name
405156226	CV2890568	single nucleotide variant	NM_001126121.2(SLC25A19):c.708G>A (p.Pro236=)	not provided [RCV003562004]	likely benign	17	75277419	75277419	Human		name
402519627	CV2902532	single nucleotide variant	NM_001126121.2(SLC25A19):c.480C>T (p.His160=)	not provided [RCV003575756]	likely benign	17	75278315	75278315	Human		name
405110927	CV2906791	single nucleotide variant	NM_001126121.2(SLC25A19):c.549C>T (p.Ile183=)	not provided [RCV003557884]	likely benign	17	75278246	75278246	Human		name
405157717	CV2961039	single nucleotide variant	NM_001126121.2(SLC25A19):c.489G>A (p.Gly163=)	not provided [RCV003670508]	likely benign	17	75278306	75278306	Human		name
12846620	CV375708	single nucleotide variant	NM_001126121.2(SLC25A19):c.642T>C (p.Asn214=)	Amish lethal microcephaly [RCV001125508]\|not provided [RCV000960634]	benign\|likely benign	17	75278153	75278153	Human	1	name
12836678	CV378772	single nucleotide variant	NM_001126121.2(SLC25A19):c.567C>T (p.Ala189=)	SLC25A19-related disorder [RCV003970226]\|not provided [RCV000676628]	likely benign	17	75278228	75278228	Human	1	name , trait , alternate_id
597972710	CV3790293	single nucleotide variant	NM_001126121.2(SLC25A19):c.915C>T (p.Phe305=)	not provided [RCV005142716]	likely benign	17	75273499	75273499	Human		name
597923660	CV3840024	single nucleotide variant	NM_001126121.2(SLC25A19):c.558C>T (p.Phe186=)	not provided [RCV005184763]	likely benign	17	75278237	75278237	Human		name
13214901	CV430006	single nucleotide variant	NM_001126121.2(SLC25A19):c.918C>T (p.Phe306=)	not provided [RCV002527287]\|not specified [RCV000501844]	likely benign	17	75273496	75273496	Human		name
13213378	CV430007	single nucleotide variant	NM_001126121.2(SLC25A19):c.73T>G (p.Ser25Ala)	Amish lethal microcephaly [RCV000765394]\|not provided [RCV001591143]\|not specified [RCV000499875]	uncertain significance	17	75286692	75286692	Human	1	name
13519829	CV492880	single nucleotide variant	NM_001126121.2(SLC25A19):c.564C>T (p.Tyr188=)	not provided [RCV000598179]	conflicting interpretations of pathogenicity\|uncertain significance	17	75278231	75278231	Human		name
13535414	CV506728	single nucleotide variant	NM_001126121.2(SLC25A19):c.744G>C (p.Gly248=)	not specified [RCV000602324]	likely benign	17	75277383	75277383	Human		name
13532411	CV506736	single nucleotide variant	NM_001126121.2(SLC25A19):c.561C>G (p.Pro187=)	not specified [RCV000606787]	likely benign	17	75278234	75278234	Human		name
15148055	CV715701	single nucleotide variant	NM_001126121.2(SLC25A19):c.906G>A (p.Ser302=)	not provided [RCV000967467]	likely benign	17	75273508	75273508	Human		name
15192245	CV771813	single nucleotide variant	NM_001126121.2(SLC25A19):c.879C>T (p.Ala293=)	not provided [RCV000933029]	likely benign	17	75273535	75273535	Human		name
15138734	CV771814	single nucleotide variant	NM_001126121.2(SLC25A19):c.570G>A (p.Gly190=)	not provided [RCV000943441]	likely benign	17	75278225	75278225	Human		name
126730601	CV1001035	single nucleotide variant	NM_001126121.2(SLC25A19):c.287A>G (p.Gln96Arg)	not provided [RCV001310379]	uncertain significance	17	75286305	75286305	Human		name
8660705	CV135775	single nucleotide variant	NM_001126121.2(SLC25A19):c.146G>A (p.Arg49His)	not provided [RCV000118366]	uncertain significance	17	75286446	75286446	Human		name
156055117	CV1924098	single nucleotide variant	NM_001126121.2(SLC25A19):c.154C>T (p.Arg52Cys)	Inborn genetic diseases [RCV002640291]\|not provided [RCV002638080]	uncertain significance	17	75286438	75286438	Human	1	name
156255318	CV1981791	single nucleotide variant	NM_001126121.2(SLC25A19):c.145C>T (p.Arg49Cys)	not provided [RCV002646032]	uncertain significance	17	75286447	75286447	Human		name
156329912	CV2061261	single nucleotide variant	NM_001126121.2(SLC25A19):c.181G>A (p.Gly61Ser)	not provided [RCV002810618]	uncertain significance	17	75286411	75286411	Human		name
156314652	CV2103971	single nucleotide variant	NM_001126121.2(SLC25A19):c.235T>C (p.Trp79Arg)	not provided [RCV002937372]	uncertain significance	17	75286357	75286357	Human		name
156398375	CV2200726	single nucleotide variant	NM_001126121.2(SLC25A19):c.247G>A (p.Val83Ile)	Inborn genetic diseases [RCV002655530]	likely benign	17	75286345	75286345	Human	1	name
156369135	CV2263277	single nucleotide variant	NM_001126121.2(SLC25A19):c.239A>C (p.Lys80Thr)	Inborn genetic diseases [RCV002814027]	uncertain significance	17	75286353	75286353	Human	1	name
243060612	CV2408612	single nucleotide variant	NM_001126121.2(SLC25A19):c.115A>T (p.Ile39Phe)	not provided [RCV003136741]	uncertain significance	17	75286650	75286650	Human		name
596933060	CV3539690	single nucleotide variant	NM_001126121.2(SLC25A19):c.224C>T (p.Pro75Leu)	not provided [RCV004794315]	uncertain significance	17	75286368	75286368	Human		name
13612868	CV432362	single nucleotide variant	NM_001126121.2(SLC25A19):c.194C>T (p.Ala65Val)	Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV000656118]	pathogenic	17	75286398	75286398	Human	1	name
13508752	CV481466	single nucleotide variant	NM_001126121.2(SLC25A19):c.240A>C (p.Lys80Asn)	Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV000578249]	likely pathogenic	17	75286352	75286352	Human	1	name
14394392	CV610115	single nucleotide variant	NM_001126121.2(SLC25A19):c.125G>A (p.Arg42His)	not provided [RCV000757770]	uncertain significance	17	75286640	75286640	Human		name
15125068	CV715702	single nucleotide variant	NM_001126121.2(SLC25A19):c.155G>A (p.Arg52His)	Amish lethal microcephaly [RCV001127607]\|not provided [RCV000963519]	likely benign\|uncertain significance	17	75286437	75286437	Human	1	name
126725094	CV1018365	single nucleotide variant	NM_001126121.2(SLC25A19):c.779G>A (p.Arg260Gln)	Amish lethal microcephaly [RCV001331197]\|not provided [RCV001863237]	uncertain significance	17	75273635	75273635	Human	1	name
8642932	CV101915	single nucleotide variant	NM_001126121.2(SLC25A19):c.622C>T (p.Pro208Ser)	Amish lethal microcephaly [RCV000398031]\|Inborn genetic diseases [RCV002514439]\|not provided [RCV000713308]	uncertain significance	17	75278173	75278173	Human	2	name
127289102	CV1152797	single nucleotide variant	NM_001126121.2(SLC25A19):c.362A>G (p.His121Arg)	Inborn genetic diseases [RCV002568002]\|not provided [RCV001508994]	uncertain significance	17	75283520	75283520	Human	1	name
127289105	CV1152798	single nucleotide variant	NM_001126121.2(SLC25A19):c.346C>T (p.Arg116Trp)	Inborn genetic diseases [RCV002568003]\|not provided [RCV001508995]	uncertain significance	17	75283536	75283536	Human	1	name
151355357	CV1328424	single nucleotide variant	NM_001126121.2(SLC25A19):c.428G>A (p.Arg143His)	not provided [RCV001869724]\|not specified [RCV001820429]	uncertain significance	17	75283454	75283454	Human		name
8657678	CV135776	single nucleotide variant	NM_001126121.2(SLC25A19):c.332G>A (p.Ser111Asn)	Inborn genetic diseases [RCV004965274]\|not provided [RCV000118367]	uncertain significance	17	75283550	75283550	Human	1	name
151851303	CV1362070	single nucleotide variant	NM_001126121.2(SLC25A19):c.685A>C (p.Ile229Leu)	not provided [RCV001978976]	uncertain significance	17	75277442	75277442	Human		name
151750245	CV1415557	single nucleotide variant	NM_001126121.2(SLC25A19):c.541A>G (p.Thr181Ala)	not provided [RCV001927452]	uncertain significance	17	75278254	75278254	Human		name
151885022	CV1429035	single nucleotide variant	NM_001126121.2(SLC25A19):c.635A>G (p.Lys212Arg)	Inborn genetic diseases [RCV005281070]\|Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV003147727]\|not provided [RCV002000395]	uncertain significance	17	75278160	75278160	Human	2	name
151745832	CV1432959	single nucleotide variant	NM_001126121.2(SLC25A19):c.727C>T (p.Arg243Trp)	Inborn genetic diseases [RCV002569181]\|not provided [RCV001985717]	uncertain significance	17	75277400	75277400	Human	1	name
151776782	CV1440374	single nucleotide variant	NM_001126121.2(SLC25A19):c.497A>T (p.Tyr166Phe)	not provided [RCV001874986]	uncertain significance	17	75278298	75278298	Human		name
152089556	CV1535589	single nucleotide variant	NM_001126121.2(SLC25A19):c.484G>A (p.Val162Met)	SLC25A19-related disorder [RCV003958804]\|not provided [RCV002150412]	likely benign\|conflicting interpretations of pathogenicity	17	75278311	75278311	Human	1	name , trait , alternate_id
153301383	CV1687765	single nucleotide variant	NM_001126121.2(SLC25A19):c.576G>C (p.Gln192His)	Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV002264842]	pathogenic	17	75278219	75278219	Human	1	name
153301384	CV1687766	single nucleotide variant	NM_001126121.2(SLC25A19):c.869T>A (p.Leu290Gln)	Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV002264843]	pathogenic	17	75273545	75273545	Human	1	name
153301385	CV1687767	single nucleotide variant	NM_001126121.2(SLC25A19):c.745T>A (p.Phe249Ile)	Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV002264844]	pathogenic	17	75277382	75277382	Human	1	name
153301387	CV1687769	single nucleotide variant	NM_001126121.2(SLC25A19):c.910G>A (p.Glu304Lys)	Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV002264846]	pathogenic	17	75273504	75273504	Human	1	name
10044988	CV188892	single nucleotide variant	NM_001126121.2(SLC25A19):c.505G>A (p.Glu169Lys)	not provided [RCV000171266]	likely pathogenic	17	75278290	75278290	Human		name
156406304	CV1894869	single nucleotide variant	NM_001126121.2(SLC25A19):c.959G>A (p.Arg320His)	not provided [RCV003070310]	uncertain significance	17	75273455	75273455	Human		name
156374842	CV1917434	single nucleotide variant	NM_001126121.2(SLC25A19):c.805G>A (p.Ala269Thr)	not provided [RCV002603494]	uncertain significance	17	75273609	75273609	Human		name
155944111	CV1921086	single nucleotide variant	NM_001126121.2(SLC25A19):c.550G>A (p.Ala184Thr)	not provided [RCV002615828]	uncertain significance	17	75278245	75278245	Human		name
8596373	CV19308	single nucleotide variant	NM_001126121.2(SLC25A19):c.530G>C (p.Gly177Ala)	Amish lethal microcephaly [RCV000004490]	pathogenic	17	75278265	75278265	Human	1	name
10052841	CV195408	single nucleotide variant	NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile)	Amish lethal microcephaly [RCV000765393]\|Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV001542329]\|not provided [RCV000724318]	conflicting interpretations of pathogenicity\|uncertain significance	17	75278205	75278205	Human	2	name
10052842	CV195410	single nucleotide variant	NM_001126121.2(SLC25A19):c.565G>A (p.Ala189Thr)	Inborn genetic diseases [RCV004020148]\|Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV003333036]\|not provided [RCV000179520]	conflicting interpretations of pathogenicity\|uncertain significance	17	75278230	75278230	Human	2	name
156305598	CV1966317	single nucleotide variant	NM_001126121.2(SLC25A19):c.628G>A (p.Glu210Lys)	not provided [RCV002578431]	uncertain significance	17	75278167	75278167	Human		name
156088385	CV1983898	single nucleotide variant	NM_001126121.2(SLC25A19):c.838G>A (p.Gly280Ser)	not provided [RCV002621774]	uncertain significance	17	75273576	75273576	Human		name
156348383	CV1989255	single nucleotide variant	NM_001126121.2(SLC25A19):c.511C>A (p.Pro171Thr)	Inborn genetic diseases [RCV002631802]\|not provided [RCV002631801]	uncertain significance	17	75278284	75278284	Human	1	name
156308223	CV2021585	single nucleotide variant	NM_001126121.2(SLC25A19):c.550G>T (p.Ala184Ser)	not provided [RCV002716384]	uncertain significance	17	75278245	75278245	Human		name
156022928	CV2055630	single nucleotide variant	NM_001126121.2(SLC25A19):c.939G>T (p.Met313Ile)	not provided [RCV002820701]	uncertain significance	17	75273475	75273475	Human		name
10406571	CV208412	single nucleotide variant	NM_001126121.2(SLC25A19):c.789G>C (p.Lys263Asn)	not specified [RCV000193199]	uncertain significance	17	75273625	75273625	Human		name
10403455	CV208413	single nucleotide variant	NM_001126121.2(SLC25A19):c.591C>G (p.Ser197Arg)	not provided [RCV001853111]\|not specified [RCV000192576]	uncertain significance	17	75278204	75278204	Human		name
156269351	CV2135211	single nucleotide variant	NM_001126121.2(SLC25A19):c.343G>A (p.Ala115Thr)	not provided [RCV002988764]	uncertain significance	17	75283539	75283539	Human		name
155964746	CV2210077	single nucleotide variant	NM_001126121.2(SLC25A19):c.487G>A (p.Gly163Arg)	Inborn genetic diseases [RCV002686958]	uncertain significance	17	75278308	75278308	Human	1	name
156382276	CV2227277	single nucleotide variant	NM_001126121.2(SLC25A19):c.905C>G (p.Ser302Trp)	Inborn genetic diseases [RCV002722746]	likely benign	17	75273509	75273509	Human	1	name
156347170	CV2375391	single nucleotide variant	NM_001126121.2(SLC25A19):c.905C>T (p.Ser302Leu)	Inborn genetic diseases [RCV002719848]	uncertain significance	17	75273509	75273509	Human	1	name
243060613	CV2408613	single nucleotide variant	NM_001126121.2(SLC25A19):c.433C>A (p.Arg145Ser)	not provided [RCV003136742]	uncertain significance	17	75283449	75283449	Human		name
329400232	CV2440801	single nucleotide variant	NM_001126121.2(SLC25A19):c.467A>G (p.Asn156Ser)	Inborn genetic diseases [RCV003197219]	uncertain significance	17	75278328	75278328	Human	1	name
11580651	CV265350	single nucleotide variant	NM_001126121.2(SLC25A19):c.797T>G (p.Met266Arg)	Amish lethal microcephaly [RCV000340152]\|SLC25A19-related disorder [RCV003930038]\|not provided [RCV000838506]\|not specified [RCV000388085]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	75273617	75273617	Human	1	name , trait , alternate_id
401762146	CV2714032	single nucleotide variant	NM_001126121.2(SLC25A19):c.406G>A (p.Val136Met)	Inborn genetic diseases [RCV003257795]	uncertain significance	17	75283476	75283476	Human	1	name
401855347	CV2752878	single nucleotide variant	NM_001126121.2(SLC25A19):c.748G>A (p.Glu250Lys)	Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV003337932]	uncertain significance	17	75277379	75277379	Human	1	name
405239109	CV2996982	single nucleotide variant	NM_001126121.2(SLC25A19):c.317T>C (p.Leu106Pro)	not provided [RCV003718790]	uncertain significance	17	75283565	75283565	Human		name
405245883	CV3075613	single nucleotide variant	NM_001126121.2(SLC25A19):c.311C>T (p.Thr104Met)	not provided [RCV003738585]	uncertain significance	17	75283571	75283571	Human		name
11625662	CV329815	single nucleotide variant	NM_001126121.2(SLC25A19):c.324C>G (p.His108Gln)	Amish lethal microcephaly [RCV000401790]\|Inborn genetic diseases [RCV003168481]\|not provided [RCV000897558]	likely benign\|uncertain significance	17	75283558	75283558	Human	2	name
405767718	CV3325447	single nucleotide variant	NM_001126121.2(SLC25A19):c.616G>C (p.Ala206Pro)	Inborn genetic diseases [RCV004456429]	uncertain significance	17	75278179	75278179	Human	1	name
405767723	CV3325448	single nucleotide variant	NM_001126121.2(SLC25A19):c.890G>T (p.Gly297Val)	Inborn genetic diseases [RCV004456430]	uncertain significance	17	75273524	75273524	Human	1	name
11662287	CV345833	single nucleotide variant	NM_001126121.2(SLC25A19):c.930C>A (p.Phe310Leu)	Amish lethal microcephaly [RCV000384560]	uncertain significance	17	75273484	75273484	Human	1	name
598168540	CV3918158	single nucleotide variant	NM_001126121.2(SLC25A19):c.832G>A (p.Ala278Thr)	Inborn genetic diseases [RCV005284112]	uncertain significance	17	75273582	75273582	Human	1	name
598168543	CV3918159	single nucleotide variant	NM_001126121.2(SLC25A19):c.565G>T (p.Ala189Ser)	Inborn genetic diseases [RCV005284113]	uncertain significance	17	75278230	75278230	Human	1	name
598168548	CV3918160	single nucleotide variant	NM_001126121.2(SLC25A19):c.391A>G (p.Met131Val)	Inborn genetic diseases [RCV005284114]	likely benign	17	75283491	75283491	Human	1	name
8602263	CV39547	single nucleotide variant	NM_001126121.2(SLC25A19):c.373G>A (p.Gly125Ser)	Amish lethal microcephaly [RCV001847622]\|Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV000023554]	pathogenic\|not provided	17	75283509	75283509	Human	2	name
13612872	CV432359	single nucleotide variant	NM_001126121.2(SLC25A19):c.550G>C (p.Ala184Pro)	Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV000656121]	pathogenic	17	75278245	75278245	Human	1	name
13612871	CV432360	single nucleotide variant	NM_001126121.2(SLC25A19):c.481G>A (p.Ala161Thr)	Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV000656120]\|not provided [RCV001310378]	pathogenic\|uncertain significance	17	75278314	75278314	Human	1	name
13612870	CV432361	single nucleotide variant	NM_001126121.2(SLC25A19):c.454C>A (p.Pro152Thr)	Progressive demyelinating neuropathy with bilateral striatal necrosis [RCV000656119]	pathogenic	17	75283428	75283428	Human	1	name
13488598	CV445894	single nucleotide variant	NM_001126121.2(SLC25A19):c.728G>A (p.Arg243Gln)	not provided [RCV000523617]	uncertain significance	17	75277399	75277399	Human		name
13481779	CV445895	single nucleotide variant	NM_001126121.2(SLC25A19):c.341A>G (p.Asp114Gly)	not provided [RCV000521600]	uncertain significance	17	75283541	75283541	Human		name
13516157	CV493339	single nucleotide variant	NM_001126121.2(SLC25A19):c.761C>T (p.Ala254Val)	Inborn genetic diseases [RCV002532630]\|not provided [RCV000595168]	uncertain significance	17	75277366	75277366	Human	1	name
13836287	CV587558	single nucleotide variant	NM_001126121.2(SLC25A19):c.842T>G (p.Phe281Cys)	Amish lethal microcephaly [RCV001335105]\|SLC25A19-related disorder [RCV003908045]\|not provided [RCV000732359]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	75273572	75273572	Human	1	name , trait , alternate_id
14393881	CV610114	single nucleotide variant	NM_001126121.2(SLC25A19):c.610A>C (p.Lys204Gln)	Inborn genetic diseases [RCV003166008]\|not provided [RCV000756638]	uncertain significance	17	75278185	75278185	Human	1	name
15015152	CV679801	single nucleotide variant	NM_001126121.2(SLC25A19):c.470C>T (p.Thr157Met)	Amish lethal microcephaly [RCV000853268]	likely pathogenic	17	75278325	75278325	Human	1	name
28903145	CV878417	single nucleotide variant	NM_001126121.2(SLC25A19):c.476G>A (p.Arg159His)	Amish lethal microcephaly [RCV001125510]\|not provided [RCV001345135]	uncertain significance	17	75278319	75278319	Human	1	name
150420631	CV1181572	insertion	NM_001126121.2(SLC25A19):c.775-122_775-121insAATAG	not provided [RCV001551640]	likely benign	17	75273760	75273761	Human		name
156242093	CV2053146	indel	NM_001126121.2(SLC25A19):c.476_477delinsTT (p.Arg159Leu)	not provided [RCV002791388]	uncertain significance	17	75278318	75278319	Human		name

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