ClinVar for MedGen (Select 463247) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 631470	NC_012920.1:m.7462C>T	MT-TS1	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 631469	NC_012920.1:m.7445A>T	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial non-syndromic sensorineural hearing loss	GPathogenic
Select item 139642	m.961_962delTinsC(n)	MT-RNR1	Indel	Mitochondrial non-syndromic sensorineural hearing loss	GUncertain significance
Select item 42226	NC_012920.1:m.7471dup	MT-TS1	Duplication	Mitochondrial disease	GPathogenic FDA Recognized database
Select item 40885	NC_012920.1:m.7505T>C	MT-TS1	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1	GPathogenic
Select item 40158	NC_012920.1:m.7443A>G	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial non-syndromic sensorineural hearing loss	GPathogenic
Select item 30004	m.12201T>C	MT-TH	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 29998	m.3388C>A	MT-ND1	Single nucleotide variant	Leigh syndrome	GBenign
Select item 9663	NC_012920.1:m.7444G>A	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 9634	NC_012920.1:m.827A>G	MT-RNR1	Single nucleotide variant	Gentamicin response	Gdrug response
Select item 9633	m.961T>G	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 9632	NC_012920.1:m.1494C>T	MT-RNR1, MT-TS1	Single nucleotide variant	Mitochondrial disease +5 more	GLikely pathogenic; drug response FDA Recognized database
Select item 9631	m.1095T>C	MT-RNR1	Single nucleotide variant	kanamycin response - Toxicity +3 more	Gdrug response
Select item 9630	m.1291T>C	MT-RNR1	Single nucleotide variant	not provided	GLikely benign
Select item 9628	NC_012920.1:m.1555A>G	MT-ND1, MT-RNR1	Single nucleotide variant	Mitochondrial disease +6 more	GPathogenic; drug response FDA Recognized database
Select item 9603	m.4295A>G	MT-TI	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 9568	m.7445A>C	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial non-syndromic sensorineural hearing loss	GPathogenic
Select item 9566	m.7511T>C	MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9565	m.7510T>C	MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely pathogenic FDA Recognized database
Select item 9563	NC_012920.1:m.7445A>G	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database

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Items: 20