4567[geneid] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689855	NC_012920.1(MT-CYB):m.3236A>G	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 9600	m.3242G>A	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic/Likely pathogenic
Select item 689856	NC_012920.1(MT-TL1):m.3243A>T	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	not specified +12 more	GPathogenic/Likely pathogenic
Select item 1684918	NC_012920.1(MT-TL1):m.3244G>A	MT-TL1	Single nucleotide variant	not specified	GUncertain significance
Select item 689857	NC_012920.1(MT-CYB):m.3248G>A	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9599	NC_012920.1(MT-TL1):m.3249G>A	MT-TL1	Single nucleotide variant	Kearns-Sayre syndrome	GUncertain significance
Select item 9593	NC_012920.1(MT-TL1):m.3250T>C	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9595	m.3251A>G	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 689858	NC_012920.1(MT-CYB):m.3252A>T	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9594	NC_012920.1(MT-TL1):m.3252A>G	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic
Select item 689860	NC_012920.1(MT-CYB):m.3254C>A	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689859	NC_012920.1(MT-CYB):m.3254C>T	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689861	NC_012920.1(MT-CYB):m.3255G>A	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GPathogenic
Select item 9591	NC_012920.1(MT-TL1):m.3256C>T	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 986454	NC_012920.1(MT-TL1):m.3258T>C	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9596	NC_012920.1(MT-TL1):m.3260A>G	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 689862	NC_012920.1(MT-CYB):m.3261A>G	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689863	NC_012920.1(MT-CYB):m.3263C>T	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 1684919	NC_012920.1(MT-TL1):m.3264T>C	MT-TL1	Single nucleotide variant	not specified	GUncertain significance
Select item 689864	NC_012920.1(MT-CYB):m.3269A>G	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 1679204	NC_012920.1(MT-TL1):m.3273del	MT-TL1	Deletion	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 9590	NC_012920.1(MT-TL1):m.3271T>C	MT-TL1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 689865	NC_012920.1(MT-CYB):m.3272T>C	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GUncertain significance
Select item 9598	NC_012920.1(MT-TL1):m.3274A>G	MT-TL1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689867	NC_012920.1(MT-CYB):m.3275C>A	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 689866	NC_012920.1(MT-CYB):m.3275C>G	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely benign
Select item 370045	NC_012920.1:m.3275C>T	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 235016	NC_012920.1:m.3276A>G	MT-TL1	Single nucleotide variant	not specified	GUncertain significance
Select item 689868	NC_012920.1(MT-CYB):m.3277G>A	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 689869	NC_012920.1(MT-CYB):m.3278T>C	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 986458	NC_012920.1(MT-TL1):m.3280A>G	MT-TL1	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 689870	NC_012920.1(MT-CYB):m.3288A>G	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GLikely pathogenic
Select item 930602	NC_012920.1(MT-TL1):m.3290T>A	MT-TL1	Single nucleotide variant	See cases	GUncertain significance
Select item 9597	NC_012920.1(MT-TL1):m.3290T>C	MT-TL1	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	GBenign
Select item 223247	NC_012920.1(MT-TL1):m.3291T>C	MT-ND1, MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 689871	NC_012920.1(MT-TL1):m.3302A>G	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9592	NC_012920.1(MT-TL1):m.3303C>T	MT-TL1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9734	NC_012920.1(MT-ND1):m.3946G>A	MT-ATP6, MT-ATP8 +20 more	Single nucleotide variant	Leigh syndrome +2 more	GPathogenic/Likely pathogenic

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Items: 39