4564[geneid] - ClinVar

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Items: 55

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 69012916.	NC_012920.1(MT-CYB):m.12141A>G GRCh37: ChrMT:12141 GRCh38: ChrMT:12141	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69013017.	NC_012920.1(MT-CYB):m.12142A>G GRCh37: ChrMT:12142 GRCh38: ChrMT:12142	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69013118.	NC_012920.1(MT-CYB):m.12143T>C GRCh37: ChrMT:12143 GRCh38: ChrMT:12143	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69013219.	NC_012920.1(MT-CYB):m.12144A>G GRCh37: ChrMT:12144 GRCh38: ChrMT:12144	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 168491320.	NC_012920.1(MT-TH):m.12146A>G GRCh37: ChrMT:12146 GRCh38: ChrMT:12146	MT-TH	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 961021.	m.12147G>A GRCh37: ChrMT:12147 GRCh38: ChrMT:12147	MT-TH	Mitochondrial disease	Likely pathogenic (Jan 9, 2023)	reviewed by expert panel FDA Recognized Database
Select item 69013322.	NC_012920.1(MT-CYB):m.12148T>C GRCh37: ChrMT:12148 GRCh38: ChrMT:12148	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Jul 12, 2019)	criteria provided, single submitter
Select item 69013423.	NC_012920.1(MT-CYB):m.12150T>C GRCh37: ChrMT:12150 GRCh38: ChrMT:12150	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69013524.	NC_012920.1(MT-CYB):m.12151A>G GRCh37: ChrMT:12151 GRCh38: ChrMT:12151	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 37698325.	NC_012920.1(MT-TH):m.12153C>T GRCh37: ChrMT:12153 GRCh38: ChrMT:12153	MT-TH	not provided, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Conflicting interpretations of pathogenicity (Jul 12, 2019)	criteria provided, conflicting interpretations
Select item 69013626.	NC_012920.1(MT-CYB):m.12160A>G GRCh37: ChrMT:12160 GRCh38: ChrMT:12160	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69013727.	NC_012920.1(MT-CYB):m.12161T>C GRCh37: ChrMT:12161 GRCh38: ChrMT:12161	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69013828.	NC_012920.1(MT-CYB):m.12163A>G GRCh37: ChrMT:12163 GRCh38: ChrMT:12163	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69013929.	NC_012920.1(MT-CYB):m.12164G>A GRCh37: ChrMT:12164 GRCh38: ChrMT:12164	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69014030.	NC_012920.1(MT-CYB):m.12166T>C GRCh37: ChrMT:12166 GRCh38: ChrMT:12166	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 44108031.	NC_012920.1:m.12170G>A GRCh37: ChrMT:12170 GRCh38: ChrMT:12170	MT-TH	mtDNA-related disorders	not provided	no assertion provided
Select item 69014132.	NC_012920.1(MT-CYB):m.12171A>G GRCh37: ChrMT:12171 GRCh38: ChrMT:12171	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69014233.	NC_012920.1(MT-CYB):m.12172A>G GRCh37: ChrMT:12172 GRCh38: ChrMT:12172	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69014434.	NC_012920.1(MT-CYB):m.12173T>A GRCh37: ChrMT:12173 GRCh38: ChrMT:12173	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69014335.	NC_012920.1(MT-CYB):m.12173T>C GRCh37: ChrMT:12173 GRCh38: ChrMT:12173	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 37696436.	NC_012920.1(MT-TH):m.12175T>C GRCh37: ChrMT:12175 GRCh38: ChrMT:12175	MT-TH	not provided, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Conflicting interpretations of pathogenicity (Jul 12, 2019)	criteria provided, conflicting interpretations
Select item 69014537.	NC_012920.1(MT-CYB):m.12176G>A GRCh37: ChrMT:12176 GRCh38: ChrMT:12176	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 61822138.	NC_012920.1:m.12177A>G GRCh37: ChrMT:12177 GRCh38: ChrMT:12177	MT-TH	not provided	Uncertain significance (Aug 14, 2017)	criteria provided, single submitter
Select item 69014639.	NC_012920.1(MT-CYB):m.12178C>T GRCh37: ChrMT:12178 GRCh38: ChrMT:12178	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69014740.	NC_012920.1(MT-CYB):m.12181C>T GRCh37: ChrMT:12181 GRCh38: ChrMT:12181	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 960941.	m.12183G>A GRCh37: ChrMT:12183 GRCh38: ChrMT:12183	MT-TH	Pigmentary retinopathy and sensorineural deafness	Pathogenic (Apr 8, 2003)	no assertion criteria provided
Select item 69014842.	NC_012920.1(MT-CYB):m.12184A>G GRCh37: ChrMT:12184 GRCh38: ChrMT:12184	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69014943.	NC_012920.1(MT-CYB):m.12185G>A GRCh37: ChrMT:12185 GRCh38: ChrMT:12185	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 168491444.	NC_012920.1(MT-TH):m.12187C>A GRCh37: ChrMT:12187 GRCh38: ChrMT:12187	MT-TH	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 91802045.	NC_012920.1(MT-TH):m.12187C>T GRCh37: ChrMT:12187 GRCh38: ChrMT:12187	MT-TH	not provided	not provided	no assertion provided
Select item 69015046.	NC_012920.1(MT-CYB):m.12188T>C GRCh37: ChrMT:12188 GRCh38: ChrMT:12188	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69015147.	NC_012920.1(MT-CYB):m.12189T>C GRCh37: ChrMT:12189 GRCh38: ChrMT:12189	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69015248.	NC_012920.1(MT-CYB):m.12191C>T GRCh37: ChrMT:12191 GRCh38: ChrMT:12191	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 960849.	m.12192G>A GRCh37: ChrMT:12192 GRCh38: ChrMT:12192	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69015350.	NC_012920.1(MT-CYB):m.12193A>G GRCh37: ChrMT:12193 GRCh38: ChrMT:12193	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69015451.	NC_012920.1(MT-CYB):m.12196C>T GRCh37: ChrMT:12196 GRCh38: ChrMT:12196	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 3000452.	m.12201T>C GRCh37: ChrMT:12201 GRCh38: ChrMT:12201	MT-TH	Mitochondrial disease	Likely pathogenic (Apr 17, 2023)	reviewed by expert panel FDA Recognized Database
Select item 69015553.	NC_012920.1(MT-CYB):m.12202T>C GRCh37: ChrMT:12202 GRCh38: ChrMT:12202	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69015654.	NC_012920.1(MT-CYB):m.12204A>C GRCh37: ChrMT:12204 GRCh38: ChrMT:12204	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69015755.	NC_012920.1(MT-CYB):m.12205C>T GRCh37: ChrMT:12205 GRCh38: ChrMT:12205	MT-TH	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter

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Items: 55