4577[geneid] - ClinVar

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Items: 32

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 95481.	m.1606G>A GRCh37: ChrMT:1606 GRCh38: ChrMT:1606	MT-TV	Mitochondrial disease	Uncertain significance (Jun 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 6898332.	NC_012920.1(MT-CYB):m.1607T>C GRCh37: ChrMT:1607 GRCh38: ChrMT:1607	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6898343.	NC_012920.1(MT-CYB):m.1608G>A GRCh37: ChrMT:1608 GRCh38: ChrMT:1608	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 13258374.	NC_012920.1(MT-ND1):m.1616A>G GRCh37: ChrMT:1616 GRCh38: ChrMT:1616	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Nov 19, 2021)	criteria provided, single submitter
Select item 6898355.	NC_012920.1(MT-CYB):m.1617C>T GRCh37: ChrMT:1617 GRCh38: ChrMT:1617	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6898366.	NC_012920.1(MT-CYB):m.1618A>G GRCh37: ChrMT:1618 GRCh38: ChrMT:1618	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 6898377.	NC_012920.1(MT-CYB):m.1619_1620insT GRCh37: ChrMT:1619-1620 GRCh38: ChrMT:1619-1620	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 6182228.	NC_012920.1(MT-CYB):m.1619C>T GRCh37: ChrMT:1619 GRCh38: ChrMT:1619	MT-TV	not provided, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Conflicting interpretations of pathogenicity (Jul 12, 2019)	criteria provided, conflicting interpretations
Select item 95499.	m.1624C>T GRCh37: ChrMT:1624 GRCh38: ChrMT:1624	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68983810.	NC_012920.1(MT-CYB):m.1628C>T GRCh37: ChrMT:1628 GRCh38: ChrMT:1628	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68983911.	NC_012920.1(MT-CYB):m.1629A>G GRCh37: ChrMT:1629 GRCh38: ChrMT:1629	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68984012.	NC_012920.1(MT-CYB):m.1630A>G GRCh37: ChrMT:1630 GRCh38: ChrMT:1630	MT-TV	Mitochondrial disease	Uncertain significance (Nov 14, 2022)	reviewed by expert panel FDA Recognized Database
Select item 68984113.	NC_012920.1(MT-CYB):m.1631C>T GRCh37: ChrMT:1631 GRCh38: ChrMT:1631	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68984214.	NC_012920.1(MT-CYB):m.1636A>G GRCh37: ChrMT:1636 GRCh38: ChrMT:1636	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68984315.	NC_012920.1(MT-CYB):m.1638T>C GRCh37: ChrMT:1638 GRCh38: ChrMT:1638	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68984416.	NC_012920.1(MT-CYB):m.1640A>G GRCh37: ChrMT:1640 GRCh38: ChrMT:1640	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68984517.	NC_012920.1(MT-CYB):m.1641G>A GRCh37: ChrMT:1641 GRCh38: ChrMT:1641	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 168492618.	NC_012920.1(MT-TV):m.1642G>A GRCh37: ChrMT:1642 GRCh38: ChrMT:1642	MT-TV	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 68449619.	NC_012920.1(MT-CYB):m.1643A>G GRCh37: ChrMT:1643 GRCh38: ChrMT:1643	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68984620.	NC_012920.1(MT-CYB):m.1644G>A GRCh37: ChrMT:1644 GRCh38: ChrMT:1644	MT-TV	Mitochondrial disease	Likely pathogenic (Dec 10, 2021)	reviewed by expert panel FDA Recognized Database
Select item 15589021.	NC_012920.1:m.1644G>T GRCh37: ChrMT:1644 GRCh38: ChrMT:1644	MT-TV	Leigh syndrome	not provided	no assertion provided
Select item 68984722.	NC_012920.1(MT-CYB):m.1646T>C GRCh37: ChrMT:1646 GRCh38: ChrMT:1646	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68984823.	NC_012920.1(MT-CYB):m.1654T>C GRCh37: ChrMT:1654 GRCh38: ChrMT:1654	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68984924.	NC_012920.1(MT-CYB):m.1656del GRCh37: ChrMT:1655 GRCh38: ChrMT:1655	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 37004425.	NC_012920.1:m.1655A>G GRCh37: ChrMT:1655 GRCh38: ChrMT:1655	MT-TV	Epilepsy, Developmental delay, Hyperlactaemia, Axial hypotonia	Uncertain significance (Nov 21, 2016)	no assertion criteria provided
Select item 93036526.	NC_012920.1(MT-ND1):m.1658_1659dup GRCh37: ChrMT:1657-1658 GRCh38: ChrMT:1657-1658	MT-TV	See cases	Uncertain significance (Jul 2, 2019)	criteria provided, single submitter
Select item 68985027.	NC_012920.1(MT-CYB):m.1657C>T GRCh37: ChrMT:1657 GRCh38: ChrMT:1657	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68985128.	NC_012920.1(MT-CYB):m.1658T>C GRCh37: ChrMT:1658 GRCh38: ChrMT:1658	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 68985229.	NC_012920.1(MT-CYB):m.1659T>C GRCh37: ChrMT:1659 GRCh38: ChrMT:1659	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37004330.	NC_012920.1:m.1661A>G GRCh37: ChrMT:1661 GRCh38: ChrMT:1661	MT-TV	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 68985331.	NC_012920.1(MT-CYB):m.1664G>A GRCh37: ChrMT:1664 GRCh38: ChrMT:1664	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 68985432.	NC_012920.1(MT-CYB):m.1670A>T GRCh37: ChrMT:1670 GRCh38: ChrMT:1670	MT-TV	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter

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Items: 32