mt-rnr1[All Fields] AND 1[has_clinical] - ClinVar - NCBI

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Unknown field was ignored: [has_clinical].

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44749	NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	GJB2 (S139N)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +11 more	GPathogenic/Likely pathogenic
Select item 627458	NM_016239.4(MYO15A):c.6177+1G>T	MYO15A	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 3	GPathogenic
Select item 1290	NM_018006.5(TRMU):c.28G>T (p.Ala10Ser)	TRMU (A10S)	Single nucleotide variant (5 prime UTR variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +3 more	GBenign/Likely benign
Select item 656119	NM_018006.5(TRMU):c.83-2A>G	TRMU	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 631899	NM_018006.5(TRMU):c.96_97del (p.Phe35fs)	TRMU (F35fs)	Deletion (5 prime UTR variant +2 more)	Aminoglycoside-induced deafness +2 more	GConflicting classifications of pathogenicity
Select item 2679283	NM_018006.5(TRMU):c.177_178del (p.Arg59fs)	TRMU (R59fs)	Microsatellite (frameshift variant +2 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 1067268	NM_018006.5(TRMU):c.249-2A>G	TRMU	Single nucleotide variant (splice acceptor variant +1 more)	Aminoglycoside-induced deafness +2 more	GLikely pathogenic
Select item 423159	NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del)	TRMU (F176del +1 more)	Microsatellite (inframe_deletion +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 973463	NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)	TRMU (R113T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 30819	NM_018006.5(TRMU):c.835G>A (p.Val279Met)	TRMU (V279M +2 more)	Single nucleotide variant (missense variant +1 more)	Aminoglycoside-induced deafness +3 more	GPathogenic/Likely pathogenic
Select item 2679277	NM_018006.5(TRMU):c.867_868del (p.Phe290fs)	TRMU (F150fs +2 more)	Microsatellite (frameshift variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679291	NM_018006.5(TRMU):c.872_873del (p.Val291fs)	TRMU (V151fs +2 more)	Microsatellite (frameshift variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 215294	NM_018006.5(TRMU):c.954dup (p.Ala319fs)	TRMU (A179fs +2 more)	Duplication (frameshift variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GConflicting classifications of pathogenicity
Select item 552491	NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)	TRMU	Duplication (inframe_insertion +2 more)	Aminoglycoside-induced deafness +3 more	GConflicting classifications of pathogenicity
Select item 805059	NC_012920.1(MT-CYB):m.663A>G	MT-RNR1	Single nucleotide variant	not provided	GBenign
Select item 994690	NC_012920.1(MT-CYB):m.721T>C	MT-RNR1	Single nucleotide variant	not provided	GLikely benign
Select item 441148	NC_012920.1(MT-CYB):m.750A>G	MT-RNR1	Single nucleotide variant	Venous thromboembolism	Gassociation not found
Select item 805060	NC_012920.1(MT-CYB):m.813A>G	MT-RNR1	Single nucleotide variant	not provided	GBenign
Select item 9634	NC_012920.1:m.827A>G	MT-RNR1	Single nucleotide variant	Gentamicin response	Gdrug response
Select item 235207	NC_012920.1(MT-CYB):m.869C>T	MT-RNR1	Single nucleotide variant	not provided	GLikely benign
Select item 805061	NC_012920.1(MT-CYB):m.930G>A	MT-RNR1	Single nucleotide variant	not provided	GBenign
Select item 42231	m.951G>A	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 517299	NC_012920.1(MT-CYB):m.953T>C	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 517632	NC_012920.1(MT-CYB):m.954C>T	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 42234	m.960_961insC	MT-RNR1	Duplication	not specified	GLikely benign
Select item 42233	m.958_960dupCCC	MT-RNR1	Duplication	not specified	GLikely benign
Select item 42235	m.960delC	MT-RNR1	Deletion	not specified	GLikely benign
Select item 42232	m.956C>T	MT-RNR1	Single nucleotide variant	not specified	GUncertain significance
Select item 504956	NC_012920.1(MT-CYB):m.961_962del	MT-RNR1	Deletion	not specified	GLikely benign
Select item 42236	m.961T>C	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 9633	m.961T>G	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 9629	m.961delTinsC(2_7)	MT-RNR1	Indel	Aminoglycoside-induced deafness	GPathogenic
Select item 505138	NC_012920.1(MT-CYB):m.962C>T	MT-RNR1	Single nucleotide variant	not specified	GUncertain significance
Select item 227551	NC_012920.1(MT-CYB):m.979C>T	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 42237	m.980T>C	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 163989	NC_012920.1(MT-CYB):m.990T>C	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 42201	m.1005T>C	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 42202	m.1007G>A	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 178871	NC_012920.1(MT-CYB):m.1008A>G	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 42203	NC_012920.1(MT-CYB):m.1018G>A	MT-RNR1	Single nucleotide variant	not provided +1 more	GBenign
Select item 178943	NC_012920.1(MT-CYB):m.1027A>G	MT-RNR1	Single nucleotide variant	Rare genetic deafness	GLikely pathogenic
Select item 163983	NC_012920.1(MT-CYB):m.1040T>C	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 505132	NC_012920.1(MT-CYB):m.1041A>G	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 517649	NC_012920.1(MT-CYB):m.1047A>G	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 42204	m.1048C>T	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 9631	NC_012920.1(MT-CYB):m.1095T>C	MT-RNR1	Single nucleotide variant	kanamycin response - Toxicity +3 more	Gdrug response
Select item 667034	NC_012920.1(MT-CYB):m.1106C>T	MT-RNR1	Single nucleotide variant	not specified	GUncertain significance
Select item 42207	m.1107T>C	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 42208	m.1116A>G	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 929973	NC_012920.1(MT-CYB):m.1117A>G	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 1806837	NC_012920.1(MT-RNR1):m.1118A>G	MT-RNR1	Single nucleotide variant	not provided	GUncertain significance
Select item 42209	m.1119T>C	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 179852	NC_012920.1(MT-CYB):m.1120C>T	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 505289	NC_012920.1(MT-CYB):m.1183T>C	MT-RNR1	Single nucleotide variant	not specified	GUncertain significance
Select item 42210	m.1187T>C	MT-RNR1	Single nucleotide variant	not specified	GUncertain significance
Select item 42205	m.1189T>C	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 42206	NC_012920.1(MT-CYB):m.1193T>C	MT-RNR1	Single nucleotide variant	not specified +1 more	GBenign/Likely benign
Select item 3337330	NC_012920.1(MT-RNR1):m.1202G>A	MT-RNR1	Single nucleotide variant	not provided	GUncertain significance
Select item 42211	m.1211G>A	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 42212	NC_012920.1(MT-CYB):m.1243T>C	MT-RNR1	Single nucleotide variant	not specified +1 more	GBenign
Select item 805058	NC_012920.1(MT-CYB):m.1257T>C	MT-RNR1	Single nucleotide variant	not provided	GUncertain significance
Select item 618730	NC_012920.1(MT-CYB):m.1282G>A	MT-RNR1	Single nucleotide variant	not provided	GUncertain significance
Select item 505294	NC_012920.1(MT-CYB):m.1284T>C	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 505197	NC_012920.1(MT-CYB):m.1290C>T	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 9630	m.1291T>C	MT-RNR1	Single nucleotide variant	not provided	GLikely benign
Select item 517363	NC_012920.1(MT-CYB):m.1299A>G	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 667050	NC_012920.1(MT-CYB):m.1303G>A	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 42213	m.1310C>T	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 666715	NC_012920.1(MT-ND1):m.1313A>G	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 505200	NC_012920.1:m.1341C>T	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 179340	NC_012920.1:m.1375C>T	MT-RNR1	Single nucleotide variant	not specified	GUncertain significance
Select item 667265	NC_012920.1(MT-ND1):m.1377C>A	MT-RNR1	Single nucleotide variant	not specified	GUncertain significance
Select item 42214	m.1382A>C	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 42215	m.1385C>T	MT-RNR1	Single nucleotide variant	not specified	GUncertain significance
Select item 42216	m.1391T>C	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 42217	m.1393G>A	MT-RNR1	Single nucleotide variant	not specified +1 more	GBenign/Likely benign
Select item 42218	m.1406T>C	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 227549	NC_012920.1:m.1415G>A	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 42219	NC_012920.1(MT-ND1):m.1420T>C	MT-RNR1	Single nucleotide variant	not provided +1 more	GBenign
Select item 177708	NC_012920.1(MT-CYB):m.1438=	MT-RNR1	Single nucleotide variant (no sequence alteration)	not specified	GBenign
Select item 42220	m.1438A>G	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 42221	NC_012920.1(MT-ND1):m.1442G>A	MT-RNR1, RNR1	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 445831	NC_012920.1(MT-CYB):m.1452T>C	MT-RNR1	Single nucleotide variant	not provided	GLikely benign
Select item 504960	NC_012920.1:m.1461A>G	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 42222	m.1462G>A	MT-RNR1	Single nucleotide variant	not provided +1 more	GBenign
Select item 505288	NC_012920.1:m.1473C>T	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 9632	NC_012920.1(MT-ND1):m.1494C>T	MT-RNR1, MT-TS1	Single nucleotide variant	tobramycin response - Toxicity +5 more	GLikely pathogenic; drug response FDA Recognized database
Select item 163987	NC_012920.1:m.1503G>A	MT-RNR1	Single nucleotide variant	not specified	GBenign
Select item 163988	NC_012920.1:m.1508C>T	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 227550	NC_012920.1:m.1536A>G	MT-RNR1	Single nucleotide variant	not specified	GLikely benign
Select item 9628	NC_012920.1(MT-ND1):m.1555A>G	MT-ND1, MT-RNR1	Single nucleotide variant	tobramycin response - Toxicity +6 more	GPathogenic; drug response FDA Recognized database
Select item 42223	NC_012920.1(MT-ND1):m.1598G>A	MT-RNR1	Single nucleotide variant	not specified +1 more	GBenign
Select item 29998	NC_012920.1(MT-ND1):m.3388C>A	MT-ND1	Single nucleotide variant	Leigh syndrome +1 more	GBenign
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
Select item 9603	NC_012920.1(MT-TI):m.4295A>G	MT-TI	Single nucleotide variant	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +1 more	GConflicting classifications of pathogenicity
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 9663	NC_012920.1(MT-CO1):m.7444G>A	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial disease	GLikely benign FDA Recognized database
Select item 631469	NC_012920.1(MT-TS1):m.7445A>T	MT-TS1, MT-CO1	Single nucleotide variant	Mitochondrial non-syndromic sensorineural hearing loss	GPathogenic
Select item 9568	NC_012920.1(MT-TS1):m.7445A>C	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial non-syndromic sensorineural hearing loss	GPathogenic
Select item 9563	NC_012920.1(MT-TS1):m.7445A>G	MT-CO1, MT-TS1	Single nucleotide variant	Mitochondrial disease	GPathogenic FDA Recognized database

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