ClinVar for Gene (Select 4575) - ClinVar

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

Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062020	Single allele	MT-TL2, MT-TS2 +6 more	Deletion	not provided	GPathogenic
Select item 1806456	Single allele	MT-CYB, MT-ND4 +6 more	Deletion	Pearson syndrome	GPathogenic
Select item 1684925	NC_012920.1(MT-TS2):m.12246C>A	MT-TS2	Single nucleotide variant	not specified	GUncertain significance
Select item 690179	NC_012920.1(MT-TS2):m.12265A>G	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690178	NC_012920.1(MT-CYB):m.12264C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic/Likely pathogenic
Select item 690177	NC_012920.1(MT-CYB):m.12258C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic/Likely pathogenic
Select item 690176	NC_012920.1(MT-CYB):m.12255T>C	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690175	NC_012920.1(MT-CYB):m.12250C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690174	NC_012920.1(MT-CYB):m.12248A>G	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690173	NC_012920.1(MT-CYB):m.12247T>C	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690172	NC_012920.1(MT-CYB):m.12246C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690171	NC_012920.1(MT-CYB):m.12245T>C	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690170	NC_012920.1(MT-CYB):m.12241dup	MT-TS2	Duplication	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690169	NC_012920.1(MT-CYB):m.12241del	MT-TS2	Deletion	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 690168	NC_012920.1(MT-CYB):m.12237C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690167	NC_012920.1(MT-CYB):m.12235T>C	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690166	NC_012920.1(MT-CYB):m.12234A>G	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690165	NC_012920.1(MT-CYB):m.12231C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690164	NC_012920.1(MT-CYB):m.12230A>G	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690163	NC_012920.1(MT-CYB):m.12223A>G	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690162	NC_012920.1(MT-CYB):m.12218C>A	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690161	NC_012920.1(MT-TS2):m.12217A>G	MT-TS2	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 690160	NC_012920.1(MT-CYB):m.12216C>T	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690159	NC_012920.1(MT-CYB):m.12215T>C	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690158	NC_012920.1(MT-CYB):m.12213G>A	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 638147	NC_012920.1(MT-TS2):m.8350_13450del	MT-ATP6, MT-ATP8 +11 more	Deletion	Pearson syndrome	GPathogenic
Select item 638146	NC_012920.1(MT-TS2):m.8480_13440del	MT-ATP6, MT-ATP8 +10 more	Deletion	Pearson syndrome	GPathogenic
Select item 440357	NC_012920.1(MT-TS2):m.12236G>A	MT-TS2	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 430686	NC_012920.1(MT-TS2):m.12114_14420del	MT-ND4, MT-ND5 +4 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430685	NC_012920.1(MT-TS2):m.11263_15374del	MT-TE, MT-CYB +6 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430684	NC_012920.1(MT-TS2):m.10106_15067del	MT-ND5, MT-ND6 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430683	NC_012920.1(MT-TS2):m.8839_14895del	MT-ND5, MT-ND6 +12 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430682	NC_012920.1(MT-TS2):m.8815_13722del	MT-ATP6, MT-CO3 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430681	NC_012920.1(MT-TS2):m.8587_12967del	MT-ATP6, MT-CO3 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430680	NC_012920.1(MT-TS2):m.8483_13459del	MT-ATP6, MT-ATP8 +10 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430678	NC_012920.1(MT-TS2):m.8290_13040del	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430676	NC_012920.1(MT-TS2):m.7129_13991del	MT-CO3, MT-ND3 +15 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430675	NC_012920.1(MT-TS2):m.6470_15588del	MT-ATP6, MT-ATP8 +18 more	Deletion	Mitochondrial disease	GPathogenic
Select item 235361	NC_012920.1(MT-CYB):m.12239C>T	MT-TS2	Single nucleotide variant	Mitochondrial disease	GBenign FDA Recognized database
Select item 209213	NC_012920.1(MT-TY):m.5794_14876del	MT-ATP6, MT-ATP8 +20 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 209212	NC_012920.1(MT-TY):m.5782_13922del	MT-ND4, MT-ND4L +17 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 9641	NC_012920.1(MT-ATP6):m.8993T>G	MT-ATP6, MT-ATP8 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 9561	m.12207G>A	MT-TS2	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 9560	m.12258C>A	MT-TS2	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 44