ClinVar for Gene (Select 4538) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062020	Single allele	MT-TL2, MT-TS2 +6 more	Deletion	not provided	GPathogenic
Select item 3027424	NC_012920.1(MT-ND4):m.11719G>A	MT-ND4	Single nucleotide variant	Venous thromboembolism	Gassociation
Select item 3027422	NC_012920.1(MT-ND4):m.12007G>A	MT-ND4	Single nucleotide variant	Venous thromboembolism	GBenign
Select item 1806456	Single allele	MT-TL2, MT-TS2 +6 more	Deletion	Pearson syndrome	GPathogenic
Select item 805948	NC_012920.1(MT-ND4):m.12015T>C	MT-ND4	Single nucleotide variant	Seizure +1 more	GLikely benign
Select item 693418	NC_012920.1(MT-ND4):m.12135C>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693417	NC_012920.1(MT-ND4):m.12134T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693416	NC_012920.1(MT-ND4):m.12128T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693415	NC_012920.1(MT-ND4):m.12123C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693414	NC_012920.1(MT-ND4):m.12122A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693413	NC_012920.1(MT-ND4):m.12117T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693412	NC_012920.1(MT-ND4):m.12092C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693411	NC_012920.1(MT-ND4):m.12092C>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693410	NC_012920.1(MT-ND4):m.12084C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693409	NC_012920.1(MT-ND4):m.12083T>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693408	NC_012920.1(MT-ND4):m.12074A>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693407	NC_012920.1(MT-ND4):m.12063C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693406	NC_012920.1(MT-ND4):m.12054G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693405	NC_012920.1(MT-ND4):m.12040A>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693404	NC_012920.1(MT-ND4):m.12033A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693403	NC_012920.1(MT-ND4):m.12031C>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693402	NC_012920.1(MT-ND4):m.12030A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693401	NC_012920.1(MT-ND4):m.12026A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693400	NC_012920.1(MT-ND4):m.12020C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693399	NC_012920.1(MT-ND4):m.12017A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693398	NC_012920.1(MT-ND4):m.12014C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693397	NC_012920.1(MT-ND4):m.12011T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693396	NC_012920.1(MT-ND4):m.12011T>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693395	NC_012920.1(MT-ND4):m.11990T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693394	NC_012920.1(MT-ND4):m.11981C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693393	NC_012920.1(MT-ND4):m.11978T>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693392	NC_012920.1(MT-ND4):m.11969G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693391	NC_012920.1(MT-ND4):m.11964T>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693390	NC_012920.1(MT-ND4):m.11963G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693389	NC_012920.1(MT-ND4):m.11957A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693388	NC_012920.1(MT-ND4):m.11946C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693387	NC_012920.1(MT-ND4):m.11931T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693386	NC_012920.1(MT-ND4):m.11930A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693385	NC_012920.1(MT-ND4):m.11928A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693384	NC_012920.1(MT-ND4):m.11913C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693383	NC_012920.1(MT-ND4):m.11906G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693382	NC_012920.1(MT-ND4):m.11825G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693381	NC_012920.1(MT-ND4):m.11807A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693380	NC_012920.1(MT-ND4):m.11792T>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693379	NC_012920.1(MT-ND4):m.11781T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693378	NC_012920.1(MT-ND4):m.11733T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693377	NC_012920.1(MT-ND4):m.11711G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693376	NC_012920.1(MT-ND4):m.11708A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693375	NC_012920.1(MT-ND4):m.11654A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693374	NC_012920.1(MT-ND4):m.11634G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693373	NC_012920.1(MT-ND4):m.11621_11622del	MT-ND4	Deletion	Leigh syndrome	GLikely pathogenic
Select item 693372	NC_012920.1(MT-ND4):m.11615A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693371	NC_012920.1(MT-ND4):m.11583T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693370	NC_012920.1(MT-ND4):m.11582A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693369	NC_012920.1(MT-ND4):m.11577G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693368	NC_012920.1(MT-ND4):m.11498A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693367	NC_012920.1(MT-ND4):m.11453G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693366	NC_012920.1(MT-ND4):m.11447G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693365	NC_012920.1(MT-ND4):m.11393C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693364	NC_012920.1(MT-ND4):m.11363G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693363	NC_012920.1(MT-ND4):m.11361T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693362	NC_012920.1(MT-ND4):m.11337A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693361	NC_012920.1(MT-ND4):m.11318T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693360	NC_012920.1(MT-ND4):m.11301T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693359	NC_012920.1(MT-ND4):m.11289T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693358	NC_012920.1(MT-ND4):m.11268C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693357	NC_012920.1(MT-ND4):m.11255T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693356	NC_012920.1(MT-ND4):m.11252A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693355	NC_012920.1(MT-ND4):m.11246G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693354	NC_012920.1(MT-ND4):m.11232T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693353	NC_012920.1(MT-ND4):m.11223T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693352	NC_012920.1(MT-ND4):m.11204T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693351	NC_012920.1(MT-ND4):m.11177C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693350	NC_012920.1(MT-ND4):m.11172A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693349	NC_012920.1(MT-ND4):m.11157T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693348	NC_012920.1(MT-ND4):m.11151C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693347	NC_012920.1(MT-ND4):m.11150G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693346	NC_012920.1(MT-ND4):m.11144A>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693345	NC_012920.1(MT-ND4):m.11139T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693344	NC_012920.1(MT-ND4):m.11129A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693343	NC_012920.1(MT-ND4):m.11120T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693342	NC_012920.1(MT-ND4):m.11111T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693341	NC_012920.1(MT-ND4):m.11090A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693340	NC_012920.1(MT-ND4):m.11087T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693339	NC_012920.1(MT-ND4):m.11069A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693338	NC_012920.1(MT-ND4):m.11061C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693337	NC_012920.1(MT-ND4):m.11043A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693336	NC_012920.1(MT-ND4):m.11039C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693335	NC_012920.1(MT-ND4):m.11025T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693334	NC_012920.1(MT-ND4):m.11016G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693333	NC_012920.1(MT-ND4):m.11013C>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693332	NC_012920.1(MT-ND4):m.11004G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693331	NC_012920.1(MT-ND4):m.10932C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693330	NC_012920.1(MT-ND4):m.10922A>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693329	NC_012920.1(MT-ND4):m.10920C>T	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693328	NC_012920.1(MT-ND4):m.10915T>G	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693327	NC_012920.1(MT-ND4):m.10914G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693326	NC_012920.1(MT-ND4):m.10913T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693325	NC_012920.1(MT-ND4):m.10911G>A	MT-ND4	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693324	NC_012920.1(MT-ND4):m.10907T>C	MT-ND4	Single nucleotide variant	Leigh syndrome	GBenign

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