4575[geneid] - ClinVar

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Items: 42

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 956116.	m.12207G>A GRCh37: ChrMT:12207 GRCh38: ChrMT:12207	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 69015817.	NC_012920.1(MT-CYB):m.12213G>A GRCh37: ChrMT:12213 GRCh38: ChrMT:12213	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69015918.	NC_012920.1(MT-CYB):m.12215T>C GRCh37: ChrMT:12215 GRCh38: ChrMT:12215	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69016019.	NC_012920.1(MT-CYB):m.12216C>T GRCh37: ChrMT:12216 GRCh38: ChrMT:12216	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69016120.	NC_012920.1(MT-CYB):m.12217A>G GRCh37: ChrMT:12217 GRCh38: ChrMT:12217	MT-TS2	not provided, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Conflicting interpretations of pathogenicity (Jul 29, 2020)	criteria provided, conflicting interpretations
Select item 69016221.	NC_012920.1(MT-CYB):m.12218C>A GRCh37: ChrMT:12218 GRCh38: ChrMT:12218	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69016322.	NC_012920.1(MT-CYB):m.12223A>G GRCh37: ChrMT:12223 GRCh38: ChrMT:12223	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69016423.	NC_012920.1(MT-CYB):m.12230A>G GRCh37: ChrMT:12230 GRCh38: ChrMT:12230	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69016524.	NC_012920.1(MT-CYB):m.12231C>T GRCh37: ChrMT:12231 GRCh38: ChrMT:12231	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69016625.	NC_012920.1(MT-CYB):m.12234A>G GRCh37: ChrMT:12234 GRCh38: ChrMT:12234	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69016726.	NC_012920.1(MT-CYB):m.12235T>C GRCh37: ChrMT:12235 GRCh38: ChrMT:12235	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69017027.	NC_012920.1(MT-CYB):m.12241dup GRCh37: ChrMT:12236-12237 GRCh38: ChrMT:12236-12237	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 44035728.	NC_012920.1(MT-TS2):m.12236G>A GRCh37: ChrMT:12236 GRCh38: ChrMT:12236	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, not specified, not provided	Conflicting interpretations of pathogenicity (Jul 12, 2019)	criteria provided, conflicting interpretations
Select item 69016929.	NC_012920.1(MT-CYB):m.12241del GRCh37: ChrMT:12237 GRCh38: ChrMT:12237	MT-TS2	See cases, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Conflicting interpretations of pathogenicity (Nov 7, 2019)	criteria provided, conflicting interpretations
Select item 69016830.	NC_012920.1(MT-CYB):m.12237C>T GRCh37: ChrMT:12237 GRCh38: ChrMT:12237	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 23536131.	NC_012920.1(MT-CYB):m.12239C>T GRCh37: ChrMT:12239 GRCh38: ChrMT:12239	MT-TS2	Mitochondrial disease	Benign (Jan 10, 2022)	reviewed by expert panel FDA Recognized Database
Select item 69017132.	NC_012920.1(MT-CYB):m.12245T>C GRCh37: ChrMT:12245 GRCh38: ChrMT:12245	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 168492533.	NC_012920.1(MT-TS2):m.12246C>A GRCh37: ChrMT:12246 GRCh38: ChrMT:12246	MT-TS2	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 69017234.	NC_012920.1(MT-CYB):m.12246C>T GRCh37: ChrMT:12246 GRCh38: ChrMT:12246	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69017335.	NC_012920.1(MT-CYB):m.12247T>C GRCh37: ChrMT:12247 GRCh38: ChrMT:12247	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69017436.	NC_012920.1(MT-CYB):m.12248A>G GRCh37: ChrMT:12248 GRCh38: ChrMT:12248	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69017537.	NC_012920.1(MT-CYB):m.12250C>T GRCh37: ChrMT:12250 GRCh38: ChrMT:12250	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69017638.	NC_012920.1(MT-CYB):m.12255T>C GRCh37: ChrMT:12255 GRCh38: ChrMT:12255	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69017739.	NC_012920.1(MT-CYB):m.12258C>T GRCh37: ChrMT:12258 GRCh38: ChrMT:12258	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 956040.	m.12258C>A GRCh37: ChrMT:12258 GRCh38: ChrMT:12258	MT-TS2	Mitochondrial disease	Likely pathogenic (Mar 28, 2023)	reviewed by expert panel FDA Recognized Database
Select item 69017841.	NC_012920.1(MT-CYB):m.12264C>T GRCh37: ChrMT:12264 GRCh38: ChrMT:12264	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69017942.	NC_012920.1(MT-CYB):m.12265A>G GRCh37: ChrMT:12265 GRCh38: ChrMT:12265	MT-TS2	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter

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Items: 42