4519[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 430675	NC_012920.1(MT-TS2):m.6470_15588del	MT-ATP6, MT-ATP8 +18 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 430684	NC_012920.1(MT-TS2):m.10106_15067del	MT-ND5, MT-ND6 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 3062020	Single allele	MT-TL2, MT-TS2 +6 more	Deletion	not provided	GPathogenic
Select item 1806456	Single allele	MT-CYB, MT-ND4 +6 more	Deletion	Pearson syndrome	GPathogenic
Select item 430685	NC_012920.1(MT-TS2):m.11263_15374del	MT-TE, MT-CYB +6 more	Deletion	Mitochondrial disease	GPathogenic
Select item 693753	NC_012920.1(MT-CYB):m.14748T>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693755	NC_012920.1(MT-CYB):m.14750A>T	MT-CYB	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693754	NC_012920.1(MT-CYB):m.14750A>G	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693756	NC_012920.1(MT-CYB):m.14751C>T	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 143865	NC_012920.1(MT-CYB):m.14753C>T	MT-CYB	Single nucleotide variant	not specified	GBenign
Select item 693757	NC_012920.1(MT-CYB):m.14757T>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693758	NC_012920.1(MT-CYB):m.14760G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693759	NC_012920.1(MT-CYB):m.14765A>T	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 140587	NC_012920.1(MT-CYB):m.14766C>T	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693760	NC_012920.1(MT-CYB):m.14768A>G	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693761	NC_012920.1(MT-CYB):m.14769A>G	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 374216	NC_012920.1:m.14771C>A	MT-CYB	Single nucleotide variant	Autosomal recessive spinocerebellar ataxia 20	GUncertain significance
Select item 693762	NC_012920.1(MT-CYB):m.14778T>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9686	m.14787_14790delTTAA	MT-CYB	Microsatellite	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 140588	NC_012920.1(MT-CYB):m.14783T>C	MT-CYB	Single nucleotide variant	Familial cancer of breast	GBenign
Select item 143866	NC_012920.1(MT-CYB):m.14784T>C	MT-CYB	Single nucleotide variant	not specified	GBenign
Select item 693763	NC_012920.1(MT-CYB):m.14786A>G	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693764	NC_012920.1(MT-CYB):m.14790A>G	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693765	NC_012920.1(MT-CYB):m.14792C>T	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693766	NC_012920.1(MT-CYB):m.14793A>G	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693767	NC_012920.1(MT-CYB):m.14795T>C	MT-CYB	Single nucleotide variant	Leigh syndrome +1 more	GUncertain significance
Select item 693768	NC_012920.1(MT-CYB):m.14798T>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 143867	NC_012920.1(MT-CYB):m.14800C>T	MT-CYB	Single nucleotide variant	not specified	GBenign
Select item 693769	NC_012920.1(MT-CYB):m.14804G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693770	NC_012920.1(MT-CYB):m.14813A>T	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693771	NC_012920.1(MT-CYB):m.14825A>G	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693772	NC_012920.1(MT-CYB):m.14826T>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693773	NC_012920.1(MT-CYB):m.14831G>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 65517	NC_012920.1(MT-CYB):m.14831G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693774	NC_012920.1(MT-CYB):m.14832C>T	MT-CYB	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693775	NC_012920.1(MT-CYB):m.14838G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693776	NC_012920.1(MT-CYB):m.14841A>G	MT-CYB	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 9679	m.14846G>A	MT-CYB	Single nucleotide variant	MT-CYB associated Exercise intolerance +2 more	GPathogenic/Likely pathogenic
Select item 9685	NC_012920.1(MT-CYB):m.14849T>C	MT-CYB	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 370061	NC_012920.1:m.14854C>T	MT-CYB	Single nucleotide variant	Mitochondrial cytopathy	GUncertain significance
Select item 693777	NC_012920.1(MT-CYB):m.14858G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693778	NC_012920.1(MT-CYB):m.14861G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693779	NC_012920.1(MT-CYB):m.14862C>T	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 2583106	NC_012920.1(MT-CYB):m.14864T>C	MT-CYB	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Gnot provided
Select item 693780	NC_012920.1(MT-CYB):m.14870A>G	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693781	NC_012920.1(MT-CYB):m.14871T>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693782	NC_012920.1(MT-CYB):m.14873C>T	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693783	NC_012920.1(MT-CYB):m.14879A>T	MT-CYB	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693784	NC_012920.1(MT-CYB):m.14880T>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693785	NC_012920.1(MT-CYB):m.14883C>T	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693786	NC_012920.1(MT-CYB):m.14888G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 143868	NC_012920.1(MT-CYB):m.14891C>G	MT-CYB	Single nucleotide variant	Familial cancer of breast	GUncertain significance
Select item 693787	NC_012920.1(MT-CYB):m.14895T>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693788	NC_012920.1(MT-CYB):m.14900G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 143919	NC_012920.1(MT-CYB):m.14905G>A	MT-CYB	Single nucleotide variant	Familial cancer of breast	GBenign
Select item 235655	NC_012920.1:m.14911C>T	MT-CYB	Single nucleotide variant	not provided	GLikely benign
Select item 693789	NC_012920.1(MT-CYB):m.14921G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693790	NC_012920.1(MT-CYB):m.14924T>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693791	NC_012920.1(MT-CYB):m.14927A>G	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 143920	NC_012920.1(MT-CYB):m.14935T>C	MT-CYB	Single nucleotide variant	not specified	GBenign
Select item 693792	NC_012920.1(MT-CYB):m.14945G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 143869	NC_012920.1(MT-CYB):m.14950C>T	MT-CYB	Single nucleotide variant	not specified	GBenign
Select item 693793	NC_012920.1(MT-CYB):m.14952T>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693794	NC_012920.1(MT-CYB):m.14954A>G	MT-CYB	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693795	NC_012920.1(MT-CYB):m.14958G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693796	NC_012920.1(MT-CYB):m.14960G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693797	NC_012920.1(MT-CYB):m.14963G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 143870	NC_012920.1(MT-CYB):m.14968T>C	MT-CYB	Single nucleotide variant	not specified	GBenign
Select item 618215	NC_012920.1(MT-CYB):m.14969T>C	MT-CYB	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 693798	NC_012920.1(MT-CYB):m.14970A>G	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693799	NC_012920.1(MT-CYB):m.14973G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 143871	NC_012920.1(MT-CYB):m.14974C>G	MT-CYB	Single nucleotide variant	Familial cancer of breast	GUncertain significance
Select item 693800	NC_012920.1(MT-CYB):m.14976G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693801	NC_012920.1(MT-CYB):m.14978A>G	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693802	NC_012920.1(MT-CYB):m.14979T>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693803	NC_012920.1(MT-CYB):m.14980C>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693804	NC_012920.1(MT-CYB):m.14982T>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 9676	NC_012920.1(MT-CYB):m.14985G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693805	NC_012920.1(MT-CYB):m.14990C>T	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693806	NC_012920.1(MT-CYB):m.14996G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 143872	NC_012920.1(MT-CYB):m.15001T>C	MT-CYB	Single nucleotide variant	Familial cancer of breast	GLikely benign
Select item 693807	NC_012920.1(MT-CYB):m.15002G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693808	NC_012920.1(MT-CYB):m.15003G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693809	NC_012920.1(MT-CYB):m.15011A>G	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693810	NC_012920.1(MT-CYB):m.15014T>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693811	NC_012920.1(MT-CYB):m.15016C>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693812	NC_012920.1(MT-CYB):m.15024G>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GLikely benign
Select item 693813	NC_012920.1(MT-CYB):m.15033T>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 140589	NC_012920.1(MT-CYB):m.15043G>A	MT-CYB	Single nucleotide variant	Familial cancer of breast	GBenign
Select item 693814	NC_012920.1(MT-CYB):m.15045G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 693815	NC_012920.1(MT-CYB):m.15047G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GBenign
Select item 693816	NC_012920.1(MT-CYB):m.15048G>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 143873	NC_012920.1(MT-CYB):m.15049C>T	MT-CYB	Single nucleotide variant	not specified	GBenign
Select item 143874	NC_012920.1(MT-CYB):m.15058C>T	MT-CYB	Single nucleotide variant	not specified	GBenign
Select item 693817	NC_012920.1(MT-CYB):m.15059G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 370062	NC_012920.1(MT-CYB):m.15060G>A	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance
Select item 143921	NC_012920.1(MT-CYB):m.15061A>G	MT-CYB	Single nucleotide variant	Ovarian neoplasm	GLikely benign
Select item 693818	NC_012920.1(MT-CYB):m.15062T>C	MT-CYB	Single nucleotide variant	Leigh syndrome	GUncertain significance

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