ClinVar for MedGen (Select 374074) - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240641	NM_018006.5(TRMU):c.1085_1101+7del	TRMU	Deletion (splice donor variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 3240640	NM_018006.5(TRMU):c.994del (p.Arg332fs)	TRMU (R192fs +2 more)	Deletion (frameshift variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 3240639	NM_018006.5(TRMU):c.645_649del (p.Lys216fs)	TRMU (K102fs +2 more)	Deletion (frameshift variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 3240638	NM_018006.5(TRMU):c.479-1G>A	TRMU	Single nucleotide variant (splice acceptor variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 3240637	NM_018006.5(TRMU):c.333del (p.His112fs)	TRMU (H112fs)	Deletion (frameshift variant +2 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 3240636	NM_018006.5(TRMU):c.31_32del (p.Leu11fs)	TRMU (L11fs)	Deletion (frameshift variant +2 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 3240635	NM_018006.5(TRMU):c.679_686del (p.Lys226_Arg227insTer)	TRMU	Deletion (nonsense +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 3075734	NM_018006.5:c.[2T>A];[835G>A]			Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GPathogenic
Select item 2852647	NM_018006.5(TRMU):c.692_705dup (p.Tyr236fs)	TRMU (Y236fs +2 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679299	NM_018006.5(TRMU):c.737_738insT (p.Ile247fs)	TRMU (I107fs +2 more)	Insertion (frameshift variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679298	NM_018006.5(TRMU):c.1102-22_1130del	TRMU	Deletion (splice acceptor variant)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679297	NM_018006.5(TRMU):c.249-2A>C	TRMU	Single nucleotide variant (splice acceptor variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679296	NM_018006.5(TRMU):c.248+1G>T	TRMU	Single nucleotide variant (splice donor variant)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679295	NM_018006.5(TRMU):c.874-1G>C	TRMU	Single nucleotide variant (splice acceptor variant)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679294	NM_018006.5(TRMU):c.777G>A (p.Trp259Ter)	TRMU (W119* +2 more)	Single nucleotide variant (nonsense +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679293	NM_018006.5(TRMU):c.1028_1029del (p.Val343fs)	TRMU (V203fs +2 more)	Microsatellite (frameshift variant +2 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679292	NM_018006.5(TRMU):c.5_27dup (p.Ala10fs)	TRMU (A10fs)	Duplication (frameshift variant +3 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 2679290	NM_018006.5(TRMU):c.660dup (p.Met221fs)	TRMU (M107fs +2 more)	Duplication (frameshift variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679289	NM_018006.5(TRMU):c.356-2del	TRMU	Deletion (splice acceptor variant)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679288	NM_018006.5(TRMU):c.380dup (p.His127fs)	TRMU (H127fs +2 more)	Duplication (frameshift variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679287	NM_018006.5(TRMU):c.824_825del (p.Glu275fs)	TRMU (E135fs +2 more)	Microsatellite (frameshift variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679286	NM_018006.5(TRMU):c.591del (p.Glu198fs)	TRMU (E198fs +2 more)	Deletion (frameshift variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679285	NM_018006.5(TRMU):c.1101+1G>A	TRMU	Single nucleotide variant (splice donor variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679284	NM_018006.5(TRMU):c.830G>A (p.Trp277Ter)	TRMU (W137* +2 more)	Single nucleotide variant (nonsense +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
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 2679282	NM_018006.5(TRMU):c.903C>A (p.Tyr301Ter)	TRMU (Y161* +2 more)	Single nucleotide variant (nonsense +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679281	NM_018006.5(TRMU):c.231T>A (p.Tyr77Ter)	TRMU (Y77*)	Single nucleotide variant (nonsense +2 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679280	NM_018006.5(TRMU):c.925del (p.Arg309fs)	TRMU (R169fs +2 more)	Deletion (frameshift variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679279	NM_018006.5(TRMU):c.1103_1109del	TRMU	Deletion	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679278	NM_018006.5(TRMU):c.575dup (p.Leu195fs)	TRMU (L195fs +2 more)	Duplication (frameshift variant +1 more)	Aminoglycoside-induced deafness	GLikely 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 2679276	NM_018006.5(TRMU):c.1019-2_1023del	TRMU	Deletion (splice acceptor variant +1 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679275	NM_018006.5(TRMU):c.706-2A>G	TRMU	Single nucleotide variant (splice acceptor variant)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679274	NM_018006.5(TRMU):c.873+2T>G	TRMU	Single nucleotide variant (splice donor variant)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2679273	NM_018006.5(TRMU):c.458del (p.Asn153fs)	TRMU (I33fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679272	NM_018006.5(TRMU):c.355+1G>T	TRMU	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2679271	NM_018006.5(TRMU):c.544C>T (p.Gln182Ter)	TRMU (Q182* +2 more)	Single nucleotide variant (synonymous variant +2 more)	Aminoglycoside-induced deafness +1 more	GPathogenic/Likely pathogenic
Select item 2679270	NM_018006.5(TRMU):c.416_417del (p.Val138_Phe139insTer)	TRMU (L19fs)	Deletion (frameshift variant +2 more)	Aminoglycoside-induced deafness	GLikely pathogenic
Select item 2581645	NM_018006.5(TRMU):c.652-2A>G	TRMU	Single nucleotide variant (splice acceptor variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GLikely pathogenic
Select item 2154507	NM_018006.5(TRMU):c.581dup (p.Leu195fs)	TRMU (L81fs +2 more)	Duplication (frameshift variant +1 more)	Aminoglycoside-induced deafness +1 more	GPathogenic/Likely pathogenic
Select item 2130554	NM_018006.5(TRMU):c.397del (p.Leu133fs)	TRMU (L19fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2013097	NM_018006.5(TRMU):c.260_263del (p.Asn87fs)	TRMU (N87fs)	Deletion (frameshift variant +2 more)	Aminoglycoside-induced deafness +1 more	GPathogenic/Likely pathogenic
Select item 2005570	NM_018006.5(TRMU):c.874-2A>G	TRMU	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1979783	NM_018006.5(TRMU):c.1041_1044dup (p.Asp349fs)	TRMU (D209fs +2 more)	Microsatellite (frameshift variant +2 more)	Aminoglycoside-induced deafness +1 more	GPathogenic
Select item 1704581	NM_018006.5(TRMU):c.882del (p.Thr295fs)	TRMU (T155fs +2 more)	Deletion (frameshift variant +1 more)	Aminoglycoside-induced deafness +1 more	GLikely pathogenic
Select item 1641286	NM_018006.5(TRMU):c.27C>T (p.Cys9=)	TRMU	Single nucleotide variant (5 prime UTR variant +2 more)	Aminoglycoside-induced deafness +2 more	GLikely benign
Select item 1523468	NM_018006.5(TRMU):c.356-2_356-1del	TRMU	Deletion (splice acceptor variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GLikely pathogenic
Select item 1505038	NM_018006.5(TRMU):c.355+1G>C	TRMU	Single nucleotide variant (splice donor variant +1 more)	Aminoglycoside-induced deafness +1 more	GLikely pathogenic
Select item 1395278	NM_018006.5(TRMU):c.428_459dup (p.Arg154fs)	TRMU (R154fs +1 more)	Duplication (frameshift variant +3 more)	Aminoglycoside-induced deafness +1 more	GPathogenic/Likely pathogenic
Select item 1382748	NM_018006.5(TRMU):c.4C>T (p.Gln2Ter)	TRMU (Q2*)	Single nucleotide variant (5 prime UTR variant +2 more)	Aminoglycoside-induced deafness +1 more	GPathogenic/Likely pathogenic
Select item 1355265	NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter)	TRMU (Y29*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1346970	NM_018006.5(TRMU):c.1019-1G>A	TRMU	Single nucleotide variant (splice acceptor variant +1 more)	Aminoglycoside-induced deafness +2 more	GLikely pathogenic
Select item 1071658	NM_018006.5(TRMU):c.803del (p.Ala268fs)	TRMU (A128fs +2 more)	Deletion (frameshift variant +1 more)	Aminoglycoside-induced deafness +2 more	GPathogenic/Likely pathogenic
Select item 1068790	NM_018006.5(TRMU):c.703C>T (p.Gln235Ter)	TRMU (Q121* +2 more)	Single nucleotide variant (nonsense +1 more)	Aminoglycoside-induced deafness +1 more	GPathogenic/Likely 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 1067227	NM_018006.5(TRMU):c.772+2T>G	TRMU	Single nucleotide variant (splice donor variant)	Aminoglycoside-induced deafness +1 more	GLikely pathogenic
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 970256	NM_018006.5(TRMU):c.824_825dup (p.Pro276fs)	TRMU (P162fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 943468	NM_018006.5(TRMU):c.994C>T (p.Arg332Ter)	TRMU (R192* +2 more)	Single nucleotide variant (nonsense +1 more)	Aminoglycoside-induced deafness +1 more	GPathogenic/Likely pathogenic
Select item 903538	NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu)	TRMU (G241E +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 901050	NM_018006.5(TRMU):c.902A>G (p.Tyr301Cys)	TRMU (Y187C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 862828	NM_018006.5(TRMU):c.581del (p.Gly194fs)	TRMU (G54fs +2 more)	Deletion (frameshift variant +1 more)	Aminoglycoside-induced deafness +1 more	GPathogenic/Likely pathogenic
Select item 856245	NM_018006.5(TRMU):c.117G>A (p.Trp39Ter)	TRMU (W39*)	Single nucleotide variant (5 prime UTR variant +2 more)	Aminoglycoside-induced deafness +2 more	GPathogenic
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 643178	NM_018006.5(TRMU):c.478+1G>A	TRMU	Single nucleotide variant (splice donor 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 597202	NM_018006.5(TRMU):c.333dup (p.His112fs)	TRMU (H112fs)	Duplication (frameshift variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 558684	NM_018006.5(TRMU):c.880del (p.Arg294fs)	TRMU (R154fs +2 more)	Deletion (frameshift variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GPathogenic/Likely pathogenic
Select item 557033	NM_018006.5(TRMU):c.40G>A (p.Gly14Ser)	TRMU (G14S)	Single nucleotide variant (5 prime UTR variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GUncertain significance
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 427012	NM_018006.5(TRMU):c.1102-3C>G	TRMU	Single nucleotide variant (intron variant)	not provided +1 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 341997	NM_018006.5(TRMU):c.-147C>A	TRMU	Single nucleotide variant	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GUncertain significance
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 215287	NM_018006.5(TRMU):c.718C>T (p.Arg240Ter)	TRMU (R240* +2 more)	Single nucleotide variant (nonsense +1 more)	Aminoglycoside-induced deafness +1 more	GPathogenic
Select item 137708	NM_018006.5(TRMU):c.387A>G (p.Ala129=)	TRMU (Q9R)	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GBenign/Likely benign
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 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 9634	NC_012920.1:m.827A>G	MT-RNR1	Single nucleotide variant	Gentamicin response	Gdrug response
Select item 9632	NC_012920.1(MT-ND1):m.1494C>T	MT-RNR1, MT-TS1	Single nucleotide variant	Mitochondrial disease +5 more	GLikely pathogenic; drug response FDA Recognized database
Select item 9631	NC_012920.1(MT-CYB):m.1095T>C	MT-RNR1	Single nucleotide variant	streptomycin response - Toxicity +3 more	Gdrug response
Select item 9629	m.961delTinsC(2_7)	MT-RNR1	Indel	Aminoglycoside-induced deafness	GPathogenic
Select item 9628	NC_012920.1(MT-ND1):m.1555A>G	MT-ND1, MT-RNR1	Single nucleotide variant	Mitochondrial disease +6 more	GPathogenic; drug response FDA Recognized database
Select item 1291	NM_018006.5(TRMU):c.229T>C (p.Tyr77His)	TRMU (Y77H)	Single nucleotide variant (5 prime UTR variant +2 more)	Aminoglycoside-induced deafness +1 more	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

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Items: 86