ClinVar (all) for Orgtrack (Select 506742) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626321	NC_012920.1:m.8420_8421insATA	MT-ATP8	Insertion	Bicuspid aortic valve	GPathogenic
Select item 599215	NC_012920.1(MT-CO1):m.6750del	MT-CO1	Deletion	Abnormal mitral valve physiology	GPathogenic
Select item 599214	NC_012920.1:m.6717_6718insGGG	MT-CO1	Insertion	Abnormal aortic valve physiology	GPathogenic
Select item 599028	NC_012920.1:m.9273_9274insATC	MT-CO3	Insertion	Tetralogy of Fallot	GPathogenic
Select item 599027	NC_012920.1:m.9441_9442insTTT	MT-CO3	Insertion	Tetralogy of Fallot	GPathogenic
Select item 599026	NC_012920.1:m.9429_9430insCCC	MT-CO3	Insertion	Tetralogy of Fallot	GPathogenic
Select item 599025	NC_012920.1:m.7815_7816insCCC	MT-CO2	Duplication	Abnormal mitral valve physiology	GPathogenic
Select item 599024	NC_012920.1:m.7790_7791insTCC	MT-CO2	Insertion	Abnormal mitral valve physiology	GPathogenic
Select item 590999	NC_012920.1:m.6743_6744insTGG	MT-CO1	Insertion	Abnormal mitral valve physiology	GPathogenic
Select item 590998	NC_012920.1(MT-ATP8):m.8562_8564dup	MT-ATP6, MT-ATP8	Duplication	Abnormal mitral valve physiology	GPathogenic
Select item 590997	NC_012920.1:m.7680_7681insGTC	MT-CO2	Insertion	Abnormal mitral valve physiology	GPathogenic
Select item 590996	NC_012920.1:m.6688_6689insACC	MT-CO1	Insertion	Abnormal mitral valve physiology	GPathogenic
Select item 590948	NC_012920.1(MT-CO1):m.6698del	MT-CO1	Deletion	Abnormal mitral valve physiology	GPathogenic
Select item 590947	NC_012920.1(MT-CO1):m.6674del	MT-CO1	Deletion	Abnormal mitral valve physiology	GLikely pathogenic
Select item 590946	NC_012920.1(MT-CO1):m.6608del	MT-CO1	Deletion	Abnormal mitral valve physiology	GPathogenic
Select item 590899	NC_012920.1:m.8751_8752insAAA	MT-ATP6	Insertion	Bicuspid aortic valve	GPathogenic
Select item 590898	NC_012920.1:m.6887_6888insGGG	MT-CO1	Insertion	Tetralogy of Fallot	GLikely pathogenic
Select item 590897	NC_012920.1:m.6906_6907insCCT	MT-CO1	Insertion	Abnormal aortic valve physiology	GLikely pathogenic
Select item 590896	NC_012920.1:m.7668_7669insCCA	MT-CO2	Insertion	Abnormal aortic valve physiology	GLikely pathogenic
Select item 590895	NC_012920.1:m.6809_6810insAAG	MT-CO1	Insertion	Abnormal aortic valve physiology	GLikely pathogenic
Select item 590894	NC_012920.1:m.9311_9312insGCA	MT-CO3	Insertion	Abnormal aortic valve physiology	GLikely pathogenic
Select item 590893	NC_012920.1(MT-CO1):m.5954del	MT-CO1	Deletion	Tetralogy of Fallot	GPathogenic
Select item 590892	NC_012920.1:m.7661_7662insCCA	MT-CO2	Insertion	Abnormal aortic valve physiology	GLikely pathogenic
Select item 590891	NC_012920.1:m.9431_9432insA	MT-CO3	Insertion	Abnormal aortic valve physiology	GPathogenic
Select item 590890	NC_012920.1(MT-CO1):m.6817del	MT-CO1	Deletion	Abnormal aortic valve physiology	GPathogenic
Select item 590888	NC_012920.1:m.8431_8432insCCA	MT-ATP8	Insertion	Abnormal aortic valve physiology	GPathogenic
Select item 590297	NC_012920.1(MT-CO1):m.6860del	MT-CO1	Deletion	Abnormal aortic valve physiology	GPathogenic
Select item 590296	NC_012920.1(MT-CO1):m.6936del	MT-CO1	Deletion	Abnormal aortic valve physiology	GPathogenic
Select item 590295	NC_012920.1(MT-CO1):m.6927del	MT-CO1	Deletion	Abnormal aortic valve physiology +1 more	GPathogenic
Select item 590294	NC_012920.1(MT-CO1):m.6902del	MT-CO1	Deletion	Tetralogy of Fallot	GPathogenic
Select item 590268	NC_012920.1(MT-ATP6):m.8950G>A	MT-ATP6	Single nucleotide variant	Leigh syndrome	GBenign
Select item 587691	NC_012920.1(MT-CO2):m.7639del	MT-CO2	Deletion	Tetralogy of Fallot	GPathogenic
Select item 587690	NC_012920.1(MT-CO1):m.6941del	MT-CO1	Deletion	Tetralogy of Fallot	GPathogenic

ClinVar

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Items: 33