Related gene-specific medical variations for Gene (Select 4535) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1256467	NC_012920.1(MT-ND1):m.3693G>A	MT-ND1	Single nucleotide variant	not specified	GBenign
Select item 1256442	NC_012920.1(MT-ND1):m.3669A>G	MT-ND1	Single nucleotide variant	not specified	GLikely benign
Select item 994648	NC_012920.1(MT-ND1):m.3504T>C	MT-ND1	Single nucleotide variant	not provided	GLikely benign
Select item 692444	NC_012920.1(MT-ND1):m.4258A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692443	NC_012920.1(MT-ND1):m.4247T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692442	NC_012920.1(MT-ND1):m.4243A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692441	NC_012920.1(MT-ND1):m.4238T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692440	NC_012920.1(MT-ND1):m.4234A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692439	NC_012920.1(MT-ND1):m.4232T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692438	NC_012920.1(MT-ND1):m.4231A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692437	NC_012920.1(MT-ND1):m.4226T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692436	NC_012920.1(MT-ND1):m.4225A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692435	NC_012920.1(MT-ND1):m.4211T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692434	NC_012920.1(MT-ND1):m.4205T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692433	NC_012920.1(MT-ND1):m.4193T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692432	NC_012920.1(MT-ND1):m.4180A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692431	NC_012920.1(MT-ND1):m.4172T>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692430	NC_012920.1(MT-ND1):m.4165C>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692429	NC_012920.1(MT-ND1):m.4153G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692428	NC_012920.1(MT-ND1):m.4148G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692427	NC_012920.1(MT-ND1):m.4142G>A	MT-ND1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic
Select item 692426	NC_012920.1(MT-ND1):m.4129A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692425	NC_012920.1(MT-ND1):m.4123A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692424	NC_012920.1(MT-ND1):m.4105A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692423	NC_012920.1(MT-ND1):m.4094C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692422	NC_012920.1(MT-ND1):m.4093A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692421	NC_012920.1(MT-ND1):m.4084G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692420	NC_012920.1(MT-ND1):m.4082T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692419	NC_012920.1(MT-ND1):m.4079A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692418	NC_012920.1(MT-ND1):m.4058C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692417	NC_012920.1(MT-ND1):m.4055T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692416	NC_012920.1(MT-ND1):m.4048G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692415	NC_012920.1(MT-ND1):m.4029C>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692414	NC_012920.1(MT-ND1):m.4024A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692413	NC_012920.1(MT-ND1):m.4021A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692412	NC_012920.1(MT-ND1):m.4013C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692411	NC_012920.1(MT-ND1):m.4012A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692410	NC_012920.1(MT-ND1):m.3992C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692409	NC_012920.1(MT-ND1):m.3943A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692408	NC_012920.1(MT-ND1):m.3937T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692407	NC_012920.1(MT-ND1):m.3910G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692406	NC_012920.1(MT-ND1):m.3892A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692405	NC_012920.1(MT-ND1):m.3887A>G	MT-ND1	Single nucleotide variant	Leigh syndrome +1 more	GUncertain significance
Select item 692404	NC_012920.1(MT-ND1):m.3866T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692403	NC_012920.1(MT-ND1):m.3865A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692402	NC_012920.1(MT-ND1):m.3808A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692401	NC_012920.1(MT-ND1):m.3793T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692400	NC_012920.1(MT-ND1):m.3775A>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692399	NC_012920.1(MT-ND1):m.3772A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692398	NC_012920.1(MT-ND1):m.3764C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692397	NC_012920.1(MT-ND1):m.3751A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692396	NC_012920.1(MT-ND1):m.3749T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692395	NC_012920.1(MT-ND1):m.3746C>T	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
Select item 692393	NC_012920.1(MT-ND1):m.3736G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692392	NC_012920.1(MT-ND1):m.3715G>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 692390	NC_012920.1(MT-ND1):m.3712G>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 692388	NC_012920.1(MT-ND1):m.3709G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692387	NC_012920.1(MT-ND1):m.3701C>T	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 692384	NC_012920.1(MT-ND1):m.3653T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692383	NC_012920.1(MT-ND1):m.3652A>G	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 692381	NC_012920.1(MT-ND1):m.3643G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692380	NC_012920.1(MT-ND1):m.3640G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692379	NC_012920.1(MT-ND1):m.3628A>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692378	NC_012920.1(MT-ND1):m.3622C>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692377	NC_012920.1(MT-ND1):m.3607G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692376	NC_012920.1(MT-ND1):m.3593T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692375	NC_012920.1(MT-ND1):m.3592G>A	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 692373	NC_012920.1(MT-ND1):m.3571C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692372	NC_012920.1(MT-ND1):m.3569C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692371	NC_012920.1(MT-ND1):m.3565A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692370	NC_012920.1(MT-ND1):m.3547A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692369	NC_012920.1(MT-ND1):m.3535T>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692368	NC_012920.1(MT-ND1):m.3533C>T	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692367	NC_012920.1(MT-ND1):m.3526G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692366	NC_012920.1(MT-ND1):m.3523A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692365	NC_012920.1(MT-ND1):m.3520A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692364	NC_012920.1(MT-ND1):m.3511A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692363	NC_012920.1(MT-ND1):m.3509T>C	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692362	NC_012920.1(MT-ND1):m.3508A>G	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 692359	NC_012920.1(MT-ND1):m.3496G>A	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 692357	NC_012920.1(MT-ND1):m.3488T>C	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 692355	NC_012920.1(MT-ND1):m.3427G>A	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	GBenign
Select item 692353	NC_012920.1(MT-ND1):m.3419A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 692352	NC_012920.1(MT-ND1):m.3399A>T	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	GBenign
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 692348	NC_012920.1(MT-ND1):m.3391G>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 692347	NC_012920.1(MT-ND1):m.3385A>G	MT-ND1	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 692346	NC_012920.1(MT-ND1):m.3380G>A	MT-ND1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic

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