4573[geneid] - ClinVar

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Items: 35

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 4306743.	NC_012920.1:m.6003_11220del5218 GRCh37: ChrMT:6003-11220 GRCh38: ChrMT:6003-11220	MT-TR, MT-TS1, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-TD, MT-TG, MT-TK, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 4306754.	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 4306765.	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 4306776.	NC_012920.1:m.7730_11255del3526 GRCh37: ChrMT:7730-11255 GRCh38: ChrMT:7730-11255	MT-CO3, MT-ND3, MT-ATP6, MT-ATP8, MT-CO2, MT-ND4, MT-ND4L, MT-TG, MT-TK, MT-TR	Mitochondrial disease	Pathogenic (May 22, 2017)	no assertion criteria provided
Select item 4306787.	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 6381478.	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 4306809.	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 63814610.	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 43068111.	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 43068212.	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 43068313.	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 43068414.	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 69011115.	NC_012920.1(MT-CYB):m.10405T>C GRCh37: ChrMT:10405 GRCh38: ChrMT:10405	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69011216.	NC_012920.1(MT-CYB):m.10406G>A GRCh37: ChrMT:10406 GRCh38: ChrMT:10406	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Mitochondrial disease	Pathogenic/Likely pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69011317.	NC_012920.1(MT-CYB):m.10408T>C GRCh37: ChrMT:10408 GRCh38: ChrMT:10408	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Jul 12, 2019)	criteria provided, single submitter
Select item 69011518.	NC_012920.1(MT-CYB):m.10410T>A GRCh37: ChrMT:10410 GRCh38: ChrMT:10410	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69011419.	NC_012920.1(MT-CYB):m.10410T>C GRCh37: ChrMT:10410 GRCh38: ChrMT:10410	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69011620.	NC_012920.1(MT-CYB):m.10411A>G GRCh37: ChrMT:10411 GRCh38: ChrMT:10411	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69011721.	NC_012920.1(MT-CYB):m.10420A>G GRCh37: ChrMT:10420 GRCh38: ChrMT:10420	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69011822.	NC_012920.1(MT-CYB):m.10427G>A GRCh37: ChrMT:10427 GRCh38: ChrMT:10427	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 168492223.	NC_012920.1(MT-TR):m.10437G>A GRCh37: ChrMT:10437 GRCh38: ChrMT:10437	MT-TR	not specified	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 962324.	m.10438A>G GRCh37: ChrMT:10438 GRCh38: ChrMT:10438	MT-TR	Mitochondrial disease	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 69011925.	NC_012920.1(MT-CYB):m.10440T>C GRCh37: ChrMT:10440 GRCh38: ChrMT:10440	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69012026.	NC_012920.1(MT-CYB):m.10446A>G GRCh37: ChrMT:10446 GRCh38: ChrMT:10446	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69012127.	NC_012920.1(MT-CYB):m.10448T>C GRCh37: ChrMT:10448 GRCh38: ChrMT:10448	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 3000028.	m.10450A>G GRCh37: ChrMT:10450 GRCh38: ChrMT:10450	MT-TR	Mitochondrial disease	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 69012229.	NC_012920.1(MT-CYB):m.10454T>C GRCh37: ChrMT:10454 GRCh38: ChrMT:10454	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69012330.	NC_012920.1(MT-CYB):m.10455A>G GRCh37: ChrMT:10455 GRCh38: ChrMT:10455	MT-TR	Mitochondrial disease	Uncertain significance (Dec 10, 2021)	reviewed by expert panel FDA Recognized Database
Select item 69012431.	NC_012920.1(MT-CYB):m.10456A>G GRCh37: ChrMT:10456 GRCh38: ChrMT:10456	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely benign (Jul 12, 2019)	criteria provided, single submitter
Select item 69012532.	NC_012920.1(MT-CYB):m.10457T>C GRCh37: ChrMT:10457 GRCh38: ChrMT:10457	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69012633.	NC_012920.1(MT-CYB):m.10460T>C GRCh37: ChrMT:10460 GRCh38: ChrMT:10460	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Likely pathogenic (Jul 12, 2019)	criteria provided, single submitter
Select item 69012734.	NC_012920.1(MT-CYB):m.10462T>C GRCh37: ChrMT:10462 GRCh38: ChrMT:10462	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Uncertain significance (Jul 12, 2019)	criteria provided, single submitter
Select item 69012835.	NC_012920.1(MT-CYB):m.10463T>C GRCh37: ChrMT:10463 GRCh38: ChrMT:10463	MT-TR	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Benign (Jul 12, 2019)	criteria provided, single submitter

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Items: 35