7460[HGNC] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209212	NC_012920.1(MT-TY):m.5782_13922del	MT-ND4, MT-ND4L +17 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 209213	NC_012920.1(MT-TY):m.5794_14876del	MT-ATP6, MT-ATP8 +20 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 430674	NC_012920.1(MT-TS1):m.6005_11222del	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430675	NC_012920.1(MT-TS2):m.6470_15588del	MT-ATP6, MT-ATP8 +18 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430676	NC_012920.1(MT-TS2):m.7129_13991del	MT-CO3, MT-ND3 +15 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430677	NC_012920.1(MT-TR):m.7731_11256del	MT-ATP6, MT-ATP8 +8 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430678	NC_012920.1(MT-TS2):m.8290_13040del	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 638147	NC_012920.1(MT-TS2):m.8350_13450del	MT-ATP6, MT-ATP8 +11 more	Deletion	Pearson syndrome	GPathogenic
Select item 430680	NC_012920.1(MT-TS2):m.8483_13459del	MT-ATP6, MT-ATP8 +10 more	Deletion	Mitochondrial disease	GPathogenic
Select item 638146	NC_012920.1(MT-TS2):m.8480_13440del	MT-ATP6, MT-ATP8 +10 more	Deletion	Pearson syndrome	GPathogenic
Select item 430681	NC_012920.1(MT-TS2):m.8587_12967del	MT-ATP6, MT-CO3 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430682	NC_012920.1(MT-TS2):m.8815_13722del	MT-ATP6, MT-CO3 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430683	NC_012920.1(MT-TS2):m.8839_14895del	MT-ND5, MT-ND6 +12 more	Deletion	Mitochondrial disease	GPathogenic
Select item 9641	NC_012920.1(MT-ATP6):m.8993T>G	MT-ATP6, MT-ATP8 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 430684	NC_012920.1(MT-TS2):m.10106_15067del	MT-ND5, MT-ND6 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 693291	NC_012920.1(MT-ND4L):m.10489A>G	MT-ND4L	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 1339835	NC_012920.1(MT-ND4L):m.10491A>G	MT-ND4L	Single nucleotide variant	not provided	Gnot provided
Select item 693292	NC_012920.1(MT-ND4L):m.10492T>C	MT-ND4L	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 376866	NC_012920.1:m.10499A>G	MT-ND4L	Single nucleotide variant	not provided	GBenign
Select item 693293	NC_012920.1(MT-ND4L):m.10506A>G	MT-ND4L	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693294	NC_012920.1(MT-ND4L):m.10507C>T	MT-ND4L	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693295	NC_012920.1(MT-ND4L):m.10522G>A	MT-ND4L	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693296	NC_012920.1(MT-ND4L):m.10524A>G	MT-ND4L	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693297	NC_012920.1(MT-ND4L):m.10530G>A	MT-ND4L	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9706	NC_012920.1(MT-ND4L):m.10563T>C	MT-ND4L	Single nucleotide variant	Familial colorectal cancer	GPathogenic
Select item 693298	NC_012920.1(MT-ND4L):m.10579T>C	MT-ND4L	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693299	NC_012920.1(MT-ND4L):m.10599G>A	MT-ND4L	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693300	NC_012920.1(MT-ND4L):m.10600C>T	MT-ND4L	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693301	NC_012920.1(MT-ND4L):m.10602A>G	MT-ND4L	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693302	NC_012920.1(MT-ND4L):m.10609T>C	MT-ND4L	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693303	NC_012920.1(MT-ND4L):m.10620A>G	MT-ND4L	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693304	NC_012920.1(MT-ND4L):m.10630T>C	MT-ND4L	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 376882	NC_012920.1:m.10632T>C	MT-ND4L	Single nucleotide variant	not provided	GLikely benign
Select item 693305	NC_012920.1(MT-ND4L):m.10635G>A	MT-ND4L	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693306	NC_012920.1(MT-ND4L):m.10639A>G	MT-ND4L	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 618217	NC_012920.1(MT-ND4L):m.10644G>A	MT-ND4L	Single nucleotide variant	Leigh syndrome +1 more	GConflicting classifications of pathogenicity
Select item 693307	NC_012920.1(MT-ND4L):m.10653G>A	MT-ND4L	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693308	NC_012920.1(MT-ND4L):m.10654C>T	MT-ND4L	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9707	m.10663T>C	MT-ND4L	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 693309	NC_012920.1(MT-ND4L):m.10677G>A	MT-ND4L	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693310	NC_012920.1(MT-ND4L):m.10680G>A	MT-ND4L	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693311	NC_012920.1(MT-ND4L):m.10686G>A	MT-ND4L	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693312	NC_012920.1(MT-ND4L):m.10704G>A	MT-ND4L	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693313	NC_012920.1(MT-ND4L):m.10749A>G	MT-ND4L	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693314	NC_012920.1(MT-ND4L):m.10750A>G	MT-ND4L	Single nucleotide variant	Leigh syndrome	GBenign

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Items: 45