4573[geneid] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209212	NC_012920.1:m.5782_13922del8141	MT-TS2, MT-TY +17 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 209213	NC_012920.1:m.5794_14876del9083	MT-ATP6, MT-TL2 +20 more	Deletion	Macrocytic dyserythropoietic anemia +1 more	GLikely pathogenic
Select item 430674	NC_012920.1:m.6003_11220del5218	MT-TD, MT-TG +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430675	NC_012920.1:m.6469_15587del9119	MT-ATP8, MT-CO1 +18 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430676	NC_012920.1:m.7129_13991del6863	MT-ND4, MT-TH +15 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430677	NC_012920.1:m.7730_11255del3526	MT-TR, MT-CO3 +8 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430678	NC_012920.1:m.8290_13040del4751	MT-ATP6, MT-ATP8 +11 more	Deletion	Mitochondrial disease	GPathogenic
Select item 638147	NC_012920.1:m.8350_13450del	MT-TR, MT-TS2 +11 more	Deletion	Pearson syndrome	GPathogenic
Select item 430680	NC_012920.1:m.8483_13459del4977	MT-TG, MT-TH +10 more	Deletion	Mitochondrial disease	GPathogenic
Select item 638146	NC_012920.1:m.8480_13440del	MT-ATP6, MT-ATP8 +10 more	Deletion	Pearson syndrome	GPathogenic
Select item 430681	NC_012920.1:m.8587_12967del4381	MT-ND4L, MT-ND5 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430682	NC_012920.1:m.8815_13722del4908	MT-CO3, MT-ND3 +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 430683	NC_012920.1:m.8839_14895del6057	MT-TH, MT-TL2 +12 more	Deletion	Mitochondrial disease	GPathogenic
Select item 9641	NC_012920.1:m.8993T>G	MT-ND4L, MT-ND5 +24 more	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 430684	NC_012920.1:m.10106_15067del4962	MT-ND4, MT-ND4L +9 more	Deletion	Mitochondrial disease	GPathogenic
Select item 690111	NC_012920.1(MT-CYB):m.10405T>C	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690112	NC_012920.1(MT-CYB):m.10406G>A	MT-TR	Single nucleotide variant	Mitochondrial disease +1 more	GPathogenic/Likely pathogenic
Select item 690113	NC_012920.1(MT-CYB):m.10408T>C	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic
Select item 690115	NC_012920.1(MT-CYB):m.10410T>A	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690114	NC_012920.1(MT-CYB):m.10410T>C	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690116	NC_012920.1(MT-CYB):m.10411A>G	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690117	NC_012920.1(MT-CYB):m.10420A>G	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690118	NC_012920.1(MT-CYB):m.10427G>A	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 1684922	NC_012920.1(MT-TR):m.10437G>A	MT-TR	Single nucleotide variant	not specified	GUncertain significance
Select item 9623	m.10438A>G	MT-TR	Single nucleotide variant	Mitochondrial disease	GPathogenic
Select item 690119	NC_012920.1(MT-CYB):m.10440T>C	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690120	NC_012920.1(MT-CYB):m.10446A>G	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690121	NC_012920.1(MT-CYB):m.10448T>C	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 30000	m.10450A>G	MT-TR	Single nucleotide variant	Mitochondrial disease	GPathogenic
Select item 690122	NC_012920.1(MT-CYB):m.10454T>C	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 690123	NC_012920.1(MT-CYB):m.10455A>G	MT-TR	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 690124	NC_012920.1(MT-CYB):m.10456A>G	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 690125	NC_012920.1(MT-CYB):m.10457T>C	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690126	NC_012920.1(MT-CYB):m.10460T>C	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic
Select item 690127	NC_012920.1(MT-CYB):m.10462T>C	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 690128	NC_012920.1(MT-CYB):m.10463T>C	MT-TR	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign

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Items: 36