Related gene-specific medical variations for Gene (Select 4578) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359048	NC_012920.1(MT-TW):m.5513G>A	MT-TW	Single nucleotide variant	New-onset refractory status epilepticus	GLikely pathogenic
Select item 689947	NC_012920.1(MT-TW):m.5573A>G	MT-TW	Single nucleotide variant	MELAS syndrome	GUncertain significance
Select item 689946	NC_012920.1(MT-TW):m.5568A>G	MT-TW	Single nucleotide variant	MELAS syndrome	GBenign
Select item 689945	NC_012920.1(MT-TW):m.5567T>C	MT-TW	Single nucleotide variant	MELAS syndrome	GBenign
Select item 689944	NC_012920.1(MT-TW):m.5566A>G	MT-TW	Single nucleotide variant	MELAS syndrome	GLikely benign
Select item 689943	NC_012920.1(MT-TW):m.5563G>A	MT-TW	Single nucleotide variant	MELAS syndrome	GBenign
Select item 689942	NC_012920.1(MT-TW):m.5560G>A	MT-TW	Single nucleotide variant	MELAS syndrome	GUncertain significance
Select item 689940	NC_012920.1(MT-TW):m.5557T>C	MT-TW	Single nucleotide variant	MELAS syndrome	GBenign
Select item 689939	NC_012920.1(MT-TW):m.5554C>A	MT-TW	Single nucleotide variant	MELAS syndrome	GBenign
Select item 689938	NC_012920.1(MT-TW):m.5553T>G	MT-TW	Single nucleotide variant	MELAS syndrome	GLikely benign
Select item 689937	NC_012920.1(MT-TW):m.5550C>T	MT-TW	Single nucleotide variant	MELAS syndrome	GUncertain significance
Select item 689936	NC_012920.1(MT-TW):m.5544T>C	MT-TW	Single nucleotide variant	MELAS syndrome	GUncertain significance
Select item 689934	NC_012920.1(MT-TW):m.5542C>T	MT-TW	Single nucleotide variant	MELAS syndrome	GUncertain significance
Select item 689932	NC_012920.1(MT-TW):m.5539A>T	MT-TW	Single nucleotide variant	MELAS syndrome	GLikely benign
Select item 689931	NC_012920.1(MT-TW):m.5539A>G	MT-TW	Single nucleotide variant	MELAS syndrome	GBenign
Select item 689928	NC_012920.1(MT-TW):m.5530C>T	MT-TW	Single nucleotide variant	MELAS syndrome	GBenign
Select item 689927	NC_012920.1(MT-TW):m.5528T>C	MT-TW	Single nucleotide variant	MELAS syndrome	GBenign
Select item 689926	NC_012920.1(MT-TW):m.5527A>G	MT-TW	Single nucleotide variant	MELAS syndrome	GBenign
Select item 689925	NC_012920.1(MT-TW):m.5524T>C	MT-TW	Single nucleotide variant	MELAS syndrome	GUncertain significance
Select item 689924	NC_012920.1(MT-TW):m.5516A>G	MT-TW	Single nucleotide variant	MELAS syndrome	GLikely benign
Select item 689923	NC_012920.1(MT-TW):m.5515A>G	MT-TW	Single nucleotide variant	MELAS syndrome	GBenign
Select item 689922	NC_012920.1(MT-TW):m.5514A>G	MT-TW	Single nucleotide variant	MELAS syndrome	GBenign
Select item 235498	NC_012920.1(MT-TW):m.5553T>C	MT-TW	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 155884	NC_012920.1(MT-TW):m.5559A>G	MT-TW	Single nucleotide variant	MELAS syndrome	GUncertain significance
Select item 155882	NC_012920.1(MT-TW):m.5523T>G	MT-TW	Single nucleotide variant	Leigh syndrome	Gnot provided

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Links from Gene

Items: 25