MT-RNR2[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344551	NC_012920.1(MT-ND1):m.1736A>G	MT-RNR2	Single nucleotide variant	Mitochondrial inheritance	GUncertain significance
Select item 235585	NC_012920.1(MT-CYB):m.1836A>G	MT-RNR2	Single nucleotide variant	not provided	GUncertain significance
Select item 3337331	NC_012920.1(MT-RNR2):m.1955G>A	MT-RNR2	Single nucleotide variant	not provided	GUncertain significance
Select item 3337332	NC_012920.1(MT-RNR2):m.1983T>C	MT-RNR2	Single nucleotide variant	not provided	GUncertain significance
Select item 3337333	NC_012920.1(MT-RNR2):m.2333G>A	MT-RNR2	Single nucleotide variant	not provided	GUncertain significance
Select item 235254	NC_012920.1:m.2394delA	MT-RNR2	Deletion	not provided	GLikely benign
Select item 235652	NC_012920.1:m.2483T>C	MT-RNR2	Single nucleotide variant	not provided	GUncertain significance
Select item 931582	NC_012920.1(MT-RNR2):m.2550A>T	MT-RNR2	Single nucleotide variant	See cases	GUncertain significance
Select item 9627	m.2939C>A	MT-RNR2	Single nucleotide variant	Chloramphenicol resistance	GPathogenic
Select item 9626	m.2991T>C	MT-RNR2	Single nucleotide variant	Chloramphenicol resistance	GPathogenic
Select item 3337334	NC_012920.1(MT-RNR2):m.3003A>G	MT-RNR2	Single nucleotide variant	not provided	GUncertain significance
Select item 441149	NC_012920.1:m.3010G>A	MT-RNR2	Single nucleotide variant	not provided	Gnot provided
Select item 377249	NC_012920.1:m.3169C>T	MT-RNR2	Single nucleotide variant	not provided	GUncertain significance
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