4568[geneid] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Search results

Items: 41

VariationLocation		Gene(s)	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 2092121.	NC_012920.1:m.5782_13922del8141 GRCh37: ChrMT:5782-13922 GRCh38: ChrMT:5782-13922	MT-ND4L, MT-ND5, MT-TC, MT-TD, MT-TR, MT-TS1, MT-TK, MT-TL2, MT-TS2, MT-TH, MT-TY, MT-ND4, MT-TG, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND3	Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemia	Likely pathogenic (Nov 4, 2014)	criteria provided, single submitter
Select item 2092132.	NC_012920.1:m.5794_14876del9083 GRCh37: ChrMT:5794-14876 GRCh38: ChrMT:5794-14876	MT-CYB, MT-ND3, MT-TL2, MT-TR, MT-TS1, MT-TS2, MT-TY, MT-ATP6, MT-ATP8, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-ND6, MT-TC, MT-TD, MT-CO1, MT-CO2, MT-CO3, MT-TE, MT-TK	Primary dilated cardiomyopathy, Macrocytic dyserythropoietic anemia	Likely pathogenic (Nov 4, 2014)	criteria provided, single submitter
Select item 4306753.	NC_012920.1:m.6469_15587del9119 GRCh37: ChrMT:6468-15586 GRCh38: ChrMT:6468-15586	MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TD, MT-TE, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS1, MT-TS2	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 4306764.	NC_012920.1:m.7129_13991del6863 GRCh37: ChrMT:7126-13988 GRCh38: ChrMT:7126-13988	MT-CO1, MT-CO2, MT-CO3, MT-ND3, MT-TD, MT-TG, MT-TL2, MT-TR, MT-TS1, MT-TS2, MT-ND4, MT-ND4L, MT-ND5, MT-TH, MT-TK, MT-ATP6, MT-ATP8	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 4306785.	NC_012920.1:m.8290_13040del4751 GRCh37: ChrMT:8290-13040 GRCh38: ChrMT:8290-13040	MT-TR, MT-TS2, MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TK, MT-TL2	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 6381476.	NC_012920.1:m.8350_13450del GRCh37: ChrMT:8350-13450 GRCh38: ChrMT:8350-13450	MT-TR, MT-TS2, MT-TK, MT-TL2, MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH	Pearson syndrome	Pathogenic (Jun 12, 2019)	no assertion criteria provided
Select item 4306807.	NC_012920.1:m.8483_13459del4977 GRCh37: ChrMT:8470-13446 GRCh38: ChrMT:8470-13446	MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2, MT-CO3, MT-ND3, MT-ND4, MT-ATP6, MT-ATP8, MT-ND4L, MT-ND5	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 6381468.	NC_012920.1:m.8480_13440del GRCh37: ChrMT:8480-13440 GRCh38: ChrMT:8480-13440	MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TR, MT-TS2, MT-TG, MT-TH, MT-TL2	Pearson syndrome	Pathogenic (Jun 12, 2019)	no assertion criteria provided
Select item 4306819.	NC_012920.1:m.8587_12967del4381 GRCh37: ChrMT:8585-12965 GRCh38: ChrMT:8585-12965	MT-ATP6, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 43068210.	NC_012920.1:m.8815_13722del4908 GRCh37: ChrMT:8815-13722 GRCh38: ChrMT:8815-13722	MT-ATP6, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 43068311.	NC_012920.1:m.8839_14895del6057 GRCh37: ChrMT:8839-14895 GRCh38: ChrMT:8839-14895	MT-ATP6, MT-CO3, MT-CYB, MT-ND5, MT-ND6, MT-TE, MT-TG, MT-TS2, MT-ND3, MT-ND4, MT-ND4L, MT-TH, MT-TL2, MT-TR	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 43068412.	NC_012920.1:m.10106_15067del4962 GRCh37: ChrMT:10105-15066 GRCh38: ChrMT:10105-15066	MT-CYB, MT-ND3, MT-ND4, MT-TH, MT-TL2, MT-TR, MT-TS2, MT-ND4L, MT-ND5, MT-ND6, MT-TE	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 180645613.	Single allele GRCh37: ChrMT:10947-15537 GRCh38: ChrMT:10947-15537	MT-TL2, MT-TS2, MT-CYB, MT-ND4, MT-ND5, MT-ND6, MT-TE, MT-TH	Pearson syndrome	Pathogenic	criteria provided, single submitter
Select item 43068514.	NC_012920.1:m.11263_15374del4112 GRCh37: ChrMT:11263-15374 GRCh38: ChrMT:11263-15374	MT-ND6, MT-TE, MT-TH, MT-CYB, MT-ND4, MT-ND5, MT-TL2, MT-TS2	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 43068615.	NC_012920.1:m.12114_14420del2307 GRCh37: ChrMT:12114-14420 GRCh38: ChrMT:12114-14420	MT-ND4, MT-ND5, MT-ND6, MT-TH, MT-TL2, MT-TS2	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 43068716.	NC_012920.1:m.12271T>C GRCh37: ChrMT:12271 GRCh38: ChrMT:12271	MT-TL2	Mitochondrial disease	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 69018017.	NC_012920.1(MT-CYB):m.12273A>G GRCh37: ChrMT:12273 GRCh38: ChrMT:12273	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69018118.	NC_012920.1(MT-CYB):m.12276G>A GRCh37: ChrMT:12276 GRCh38: ChrMT:12276	MT-TL2	Mitochondrial disease	Likely pathogenic (Nov 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69018219.	NC_012920.1(MT-CYB):m.12278T>C GRCh37: ChrMT:12278 GRCh38: ChrMT:12278	MT-TL2	Mitochondrial disease, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, multiple submitters, no conflicts
Select item 69018420.	NC_012920.1(MT-CYB):m.12279A>T GRCh37: ChrMT:12279 GRCh38: ChrMT:12279	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69018321.	NC_012920.1(MT-CYB):m.12279A>G GRCh37: ChrMT:12279 GRCh38: ChrMT:12279	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69018522.	NC_012920.1(MT-CYB):m.12280A>G GRCh37: ChrMT:12280 GRCh38: ChrMT:12280	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69018623.	NC_012920.1(MT-CYB):m.12281C>T GRCh37: ChrMT:12281 GRCh38: ChrMT:12281	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 43068824.	NC_012920.1:m.12283G>A GRCh37: ChrMT:12283 GRCh38: ChrMT:12283	MT-TL2	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 69018725.	NC_012920.1(MT-CYB):m.12285T>C GRCh37: ChrMT:12285 GRCh38: ChrMT:12285	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69018826.	NC_012920.1(MT-CYB):m.12291T>C GRCh37: ChrMT:12291 GRCh38: ChrMT:12291	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69018927.	NC_012920.1(MT-CYB):m.12293G>A GRCh37: ChrMT:12293 GRCh38: ChrMT:12293	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 98649428.	NC_012920.1(MT-TL2):m.12294G>A GRCh37: ChrMT:12294 GRCh38: ChrMT:12294	MT-TL2	Mitochondrial disease	Uncertain significance (Oct 24, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69019029.	NC_012920.1(MT-CYB):m.12295T>C GRCh37: ChrMT:12295 GRCh38: ChrMT:12295	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 958830.	m.12297T>C GRCh37: ChrMT:12297 GRCh38: ChrMT:12297	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69019231.	NC_012920.1(MT-CYB):m.12302C>T GRCh37: ChrMT:12302 GRCh38: ChrMT:12302	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69019132.	NC_012920.1(MT-CYB):m.12302C>A GRCh37: ChrMT:12302 GRCh38: ChrMT:12302	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Mar 15, 2020)	criteria provided, single submitter
Select item 69019433.	NC_012920.1(MT-CYB):m.12310dup GRCh37: ChrMT:12305-12306 GRCh38: ChrMT:12305-12306	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69019334.	NC_012920.1(MT-CYB):m.12308A>G GRCh37: ChrMT:12308 GRCh38: ChrMT:12308	MT-TL2	Mitochondrial disease	Benign (Jan 10, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69019535.	NC_012920.1(MT-CYB):m.12311T>C GRCh37: ChrMT:12311 GRCh38: ChrMT:12311	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 958636.	m.12315G>A GRCh37: ChrMT:12315 GRCh38: ChrMT:12315	MT-TL2	Mitochondrial disease	Likely pathogenic (Nov 30, 2022)	reviewed by expert panel FDA Recognized Database
Select item 98649637.	NC_012920.1(MT-TL2):m.12316G>A GRCh37: ChrMT:12316 GRCh38: ChrMT:12316	MT-TL2	Mitochondrial disease	Uncertain significance (Feb 27, 2023)	reviewed by expert panel FDA Recognized Database
Select item 168492038.	NC_012920.1(MT-TL2):m.12317T>C GRCh37: ChrMT:12317 GRCh38: ChrMT:12317	MT-TL2	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 69019639.	NC_012920.1(MT-CYB):m.12318G>A GRCh37: ChrMT:12318 GRCh38: ChrMT:12318	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 958740.	m.12320A>G GRCh37: ChrMT:12320 GRCh38: ChrMT:12320	MT-TL2	Inborn mitochondrial myopathy	Pathogenic (Feb 1, 1997)	no assertion criteria provided
Select item 69019741.	NC_012920.1(MT-CYB):m.12335T>C GRCh37: ChrMT:12335 GRCh38: ChrMT:12335	MT-TL2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Jul 12, 2019)	criteria provided, single submitter

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41