7455[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9628	NC_012920.1(MT-ND1):m.1555A>G	MT-ND1, MT-RNR1	Single nucleotide variant	Mitochondrial disease +6 more	GPathogenic; drug response FDA Recognized database
Select item 223247	NC_012920.1(MT-TL1):m.3291T>C	MT-ND1, MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 692328	NC_012920.1(MT-ND1):m.3307A>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692329	NC_012920.1(MT-ND1):m.3308delinsAC	MT-ND1	Indel	Leigh syndrome	GUncertain significance
Select item 9729	NC_012920.1(MT-ND1):m.3308T>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 9728	NC_012920.1(MT-ND1):m.3308T>C	MT-ND1	Single nucleotide variant	not specified +1 more	GBenign/Likely benign
Select item 692330	NC_012920.1(MT-ND1):m.3310C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692331	NC_012920.1(MT-ND1):m.3313A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692333	NC_012920.1(MT-ND1):m.3316G>A	MT-ND1	Single nucleotide variant	Leigh syndrome +1 more	GBenign
Select item 692332	NC_012920.1(MT-ND1):m.3316G>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692334	NC_012920.1(MT-ND1):m.3320A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692335	NC_012920.1(MT-ND1):m.3328C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692336	NC_012920.1(MT-ND1):m.3335T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692337	NC_012920.1(MT-ND1):m.3337G>A	MT-ND1	Single nucleotide variant	Leigh syndrome +1 more	GBenign
Select item 692338	NC_012920.1(MT-ND1):m.3338T>C	MT-ND1	Single nucleotide variant	Leigh syndrome +1 more	GBenign
Select item 692339	NC_012920.1(MT-ND1):m.3340C>T	MT-ND1	Single nucleotide variant	Leigh syndrome +1 more	GLikely benign
Select item 692340	NC_012920.1(MT-ND1):m.3344T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692341	NC_012920.1(MT-ND1):m.3349A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692342	NC_012920.1(MT-ND1):m.3350T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692343	NC_012920.1(MT-ND1):m.3357G>C	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 692344	NC_012920.1(MT-ND1):m.3358G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692345	NC_012920.1(MT-ND1):m.3368T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 65921	m.3376G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 692346	NC_012920.1(MT-ND1):m.3380G>A	MT-ND1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 692347	NC_012920.1(MT-ND1):m.3385A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 29998	NC_012920.1(MT-ND1):m.3388C>A	MT-ND1	Single nucleotide variant	not provided +1 more	GBenign
Select item 692348	NC_012920.1(MT-ND1):m.3391G>A	MT-ND1	Single nucleotide variant	Leigh syndrome +1 more	GBenign
Select item 9725	NC_012920.1(MT-ND1):m.3394T>C	MT-ND1	Single nucleotide variant	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 692350	NC_012920.1(MT-ND1):m.3395A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692349	NC_012920.1(MT-ND1):m.3395A>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 235394	NC_012920.1(MT-ND1):m.3396T>C	MT-ND1	Single nucleotide variant	not provided	GLikely benign
Select item 9726	NC_012920.1(MT-ND1):m.3397A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692351	NC_012920.1(MT-ND1):m.3398T>C	MT-ND1	Single nucleotide variant	Leigh syndrome +1 more	GBenign
Select item 692352	NC_012920.1(MT-ND1):m.3399A>T	MT-ND1	Single nucleotide variant	Leigh syndrome +1 more	GBenign
Select item 692353	NC_012920.1(MT-ND1):m.3419A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692354	NC_012920.1(MT-ND1):m.3421G>A	MT-ND1	Single nucleotide variant	Leigh syndrome +1 more	GBenign
Select item 692355	NC_012920.1(MT-ND1):m.3427G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692356	NC_012920.1(MT-ND1):m.3434A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 235591	NC_012920.1(MT-ND1):m.3447A>G	MT-ND1	Single nucleotide variant	not provided	GBenign
Select item 9722	NC_012920.1(MT-ND1):m.3460G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 3337319	NC_012920.1(MT-ND1):m.3461C>G	MT-ND1	Single nucleotide variant	not provided	GUncertain significance
Select item 1684907	NC_012920.1(MT-ND1):m.3472T>C	MT-ND1	Single nucleotide variant	not specified	GUncertain significance
Select item 155880	NC_012920.1(MT-ND1):m.3481G>A	MT-ND1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 692357	NC_012920.1(MT-ND1):m.3488T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692358	NC_012920.1(MT-ND1):m.3492A>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692359	NC_012920.1(MT-ND1):m.3496G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692360	NC_012920.1(MT-ND1):m.3497C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 377309	NC_012920.1(MT-ND1):m.3498C>T	MT-ND1	Single nucleotide variant	not provided	GLikely benign
Select item 692361	NC_012920.1(MT-ND1):m.3502T>C	MT-ND1	Single nucleotide variant	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency +1 more	GLikely pathogenic
Select item 994648	NC_012920.1(MT-ND1):m.3504T>C	MT-ND1	Single nucleotide variant	not provided	GLikely benign
Select item 252456	NC_012920.1(MT-ND1):m.3505A>G	MT-ND1	Single nucleotide variant	not provided +2 more	GBenign
Select item 692362	NC_012920.1(MT-ND1):m.3508A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692363	NC_012920.1(MT-ND1):m.3509T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692364	NC_012920.1(MT-ND1):m.3511A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 805044	NC_012920.1(MT-ND1):m.3513C>T	MT-ND1	Single nucleotide variant	not provided	GBenign
Select item 692365	NC_012920.1(MT-ND1):m.3520A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692366	NC_012920.1(MT-ND1):m.3523A>G	MT-ND1	Single nucleotide variant	Leigh syndrome +1 more	GBenign
Select item 692367	NC_012920.1(MT-ND1):m.3526G>A	MT-ND1	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 692368	NC_012920.1(MT-ND1):m.3533C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 805045	NC_012920.1(MT-ND1):m.3535T>C	MT-ND1	Single nucleotide variant	not provided	GBenign
Select item 692369	NC_012920.1(MT-ND1):m.3535T>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692370	NC_012920.1(MT-ND1):m.3547A>G	MT-ND1	Single nucleotide variant	Leigh syndrome +1 more	GBenign
Select item 235006	NC_012920.1(MT-ND1):m.3548T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 805046	NC_012920.1(MT-ND1):m.3552T>A	MT-ND1	Single nucleotide variant	not provided	GBenign
Select item 3337320	NC_012920.1(MT-ND1):m.3553C>T	MT-ND1	Single nucleotide variant	not provided	GUncertain significance
Select item 805047	NC_012920.1(MT-ND1):m.3555T>C	MT-ND1	Single nucleotide variant	not provided	GLikely benign
Select item 692371	NC_012920.1(MT-ND1):m.3565A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692374	NC_012920.1(MT-ND1):m.3571del	MT-ND1	Deletion	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	GLikely pathogenic
Select item 692372	NC_012920.1(MT-ND1):m.3569C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692373	NC_012920.1(MT-ND1):m.3571C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 3337321	NC_012920.1(MT-ND1):m.3578T>C	MT-ND1	Single nucleotide variant	not provided	GUncertain significance
Select item 235531	NC_012920.1:m.3582C>T	MT-ND1	Single nucleotide variant	not provided	GUncertain significance
Select item 692375	NC_012920.1(MT-ND1):m.3592G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692376	NC_012920.1(MT-ND1):m.3593T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692377	NC_012920.1(MT-ND1):m.3607G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692378	NC_012920.1(MT-ND1):m.3622C>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 370046	NC_012920.1(MT-ND1):m.3624A>G	MT-ND1	Single nucleotide variant	not provided	GUncertain significance
Select item 692379	NC_012920.1(MT-ND1):m.3628A>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 65518	m.3635G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 692380	NC_012920.1(MT-ND1):m.3640G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692381	NC_012920.1(MT-ND1):m.3643G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692382	NC_012920.1(MT-ND1):m.3644T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692383	NC_012920.1(MT-ND1):m.3652A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692384	NC_012920.1(MT-ND1):m.3653T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692385	NC_012920.1(MT-ND1):m.3661T>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 1256442	NC_012920.1(MT-ND1):m.3669A>G	MT-ND1	Single nucleotide variant	not specified	GLikely benign
Select item 692386	NC_012920.1(MT-ND1):m.3670G>A	MT-ND1	Single nucleotide variant	Abnormal CSF lactate concentration +6 more	GUncertain significance
Select item 1328561	NC_012920.1(MT-ND1):m.3685T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely pathogenic
Select item 1256467	NC_012920.1(MT-ND1):m.3693G>A	MT-ND1	Single nucleotide variant	not specified	GBenign
Select item 9733	m.3697G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 65519	m.3700G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 692387	NC_012920.1(MT-ND1):m.3701C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692388	NC_012920.1(MT-ND1):m.3709G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692389	NC_012920.1(MT-ND1):m.3710C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692390	NC_012920.1(MT-ND1):m.3712G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692391	NC_012920.1(MT-ND1):m.3713T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692392	NC_012920.1(MT-ND1):m.3715G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9736	m.3733G>A	MT-ND1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 692393	NC_012920.1(MT-ND1):m.3736G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692394	NC_012920.1(MT-ND1):m.3745G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign

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