ClinVar for MedGen (Select 480294) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 164

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338850	NM_018006.5(TRMU):c.697C>T (p.Leu233Phe)	TRMU (L119F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 2690277	NM_018006.5(TRMU):c.319T>C (p.Phe107Leu)	TRMU (F107L)	Single nucleotide variant (missense variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 2682590	NM_015909.4(NBAS):c.5356C>T (p.Arg1786Ter)	NBAS (R1786*)	Single nucleotide variant (nonsense +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GPathogenic
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 2504063	NC_000002.11:g.(15330528_15358896)_(15449372_15467873)del	NBAS	Deletion	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely pathogenic
Select item 2501232	NM_018006.5(TRMU):c.1099C>T (p.Gln367Ter)	TRMU (Q227* +2 more)	Single nucleotide variant (nonsense +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely pathogenic
Select item 2446020	NM_015909.4(NBAS):c.5547del (p.Trp1850fs)	NBAS (W1850fs)	Deletion (frameshift variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GPathogenic
Select item 2437336	NM_018006.5(TRMU):c.169G>T (p.Ala57Ser)	TRMU (A57S)	Single nucleotide variant (missense variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 2437335	NM_018006.5(TRMU):c.-454_-452del	TRMU	Microsatellite	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 2434263	NM_018006.5(TRMU):c.711dup (p.Gln238fs)	TRMU (Q124fs +2 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2429258	NM_015909.4(NBAS):c.4114C>T (p.Gln1372Ter)	NBAS (Q1372*)	Single nucleotide variant (nonsense +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely pathogenic
Select item 2429257	NC_000002.11:g.(15468437_15470721)_(15496541_15506703)dup	NBAS	Duplication	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely pathogenic
Select item 2159340	NM_015909.4(NBAS):c.500_501del (p.Phe167fs)	NBAS (F167fs)	Deletion (frameshift variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GPathogenic
Select item 2139029	NM_015909.4(NBAS):c.4461+2T>C	NBAS	Single nucleotide variant (splice donor variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GLikely pathogenic
Select item 2011558	NM_015909.4(NBAS):c.4838_4839del (p.Val1613fs)	NBAS (V1613fs)	Microsatellite (frameshift variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GPathogenic/Likely pathogenic
Select item 1804812	NM_018006.5(TRMU):c.773-1G>C	TRMU	Single nucleotide variant (splice acceptor variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely pathogenic
Select item 1804805	NM_015909.4(NBAS):c.4520del (p.Leu1507fs)	NBAS (L1507fs)	Deletion (frameshift variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GPathogenic/Likely pathogenic
Select item 1723387	NC_000002.11:g.(15470890_15492115)_(15493835_15496426)del	NBAS	Deletion	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely pathogenic
Select item 1723363	NM_020117.11(LARS1):c.1755G>A (p.Trp585Ter)	LARS1 (W531* +3 more)	Single nucleotide variant (nonsense)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely pathogenic
Select item 1722447	NM_020117.11(LARS1):c.661C>T (p.Gln221Ter)	LARS1 (Q167* +3 more)	Single nucleotide variant (nonsense)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely pathogenic
Select item 1722435	NM_015909.4(NBAS):c.4698_4741del (p.Ser1567fs)	NBAS (S1567fs)	Deletion (frameshift variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely pathogenic
Select item 1722434	NM_015909.4(NBAS):c.2764-1G>C	NBAS	Single nucleotide variant (splice acceptor variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely pathogenic
Select item 1705204	NC_000002.11:g.(15432891_15448339)_(15449372_15467873)del	NBAS	Deletion	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely pathogenic
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 1704580	NM_018006.5(TRMU):c.873+1G>C	TRMU	Single nucleotide variant (splice donor variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely pathogenic
Select item 1696343	NM_015909.4(NBAS):c.1A>T (p.Met1Leu)	LOC129933155, NBAS (M1L)	Single nucleotide variant (missense variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GPathogenic/Likely pathogenic
Select item 1687728	NM_018006.5(TRMU):c.1258_1259dup (p.Leu420fs)	TRMU (L280fs +2 more)	Duplication (frameshift variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely pathogenic
Select item 1683354	NC_000002.11:g.(15378811_15415607)_(15567919_15601324)del	NBAS	Deletion	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely pathogenic
Select item 1677070	NC_000002.11:g.(15567919_15601324)_(15618414_15629017)del	NBAS	Deletion	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	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 1482982	NM_018006.5(TRMU):c.1141G>A (p.Gly381Arg)	TRMU (G241R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1457999	NM_015909.4(NBAS):c.1533_1545del (p.Ile512fs)	NBAS (I512fs)	Deletion (frameshift variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GPathogenic
Select item 1403703	NM_015909.4(NBAS):c.4370_4371delinsGA (p.Tyr1457Ter)	NBAS (Y1457*)	Indel (nonsense +1 more)	not provided +1 more	GPathogenic
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 1343775	NM_020117.11(LARS1):c.2770-2A>G	LARS1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1335898	NM_015909.4(NBAS):c.1213C>T (p.Arg405Ter)	NBAS (R405*)	Single nucleotide variant (nonsense +1 more)	Infantile liver failure syndrome 2 +2 more	GPathogenic
Select item 1331491	NM_015909.4(NBAS):c.6909T>A (p.Cys2303Ter)	NBAS (C2303*)	Single nucleotide variant (nonsense +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GConflicting classifications of pathogenicity
Select item 1217235	NM_015909.4(NBAS):c.6877del (p.Leu2293fs)	NBAS (L2293fs)	Deletion (frameshift variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GConflicting classifications of pathogenicity
Select item 1193998	NM_018006.5(TRMU):c.673G>A (p.Gly225Arg)	TRMU (G111R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1130215	NM_018006.5(TRMU):c.1242T>G (p.Gly414=)	TRMU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1076499	NM_018006.5(TRMU):c.706-1G>A	TRMU	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
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 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 990759	NM_018006.5(TRMU):c.1211C>T (p.Thr404Ile)	TRMU (T264I +2 more)	Single nucleotide variant (missense variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely benign
Select item 990758	NM_018006.5(TRMU):c.1211C>A (p.Thr404Asn)	TRMU (H236Q +4 more)	Single nucleotide variant (missense variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely benign
Select item 990757	NM_018006.5(TRMU):c.624A>T (p.Arg208Ser)	TRMU (R208S +2 more)	Single nucleotide variant (missense variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 990756	NM_018006.5(TRMU):c.408A>T (p.Glu136Asp)	TRMU (E136D +2 more)	Single nucleotide variant (missense variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 990755	NM_018006.5(TRMU):c.83-9C>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 903539	NM_018006.5(TRMU):c.1163C>T (p.Pro388Leu)	TRMU (P388L +2 more)	Single nucleotide variant (missense variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
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 903484	NM_018006.5(TRMU):c.256T>C (p.Leu86=)	TRMU	Single nucleotide variant (synonymous variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 903483	NM_018006.5(TRMU):c.175A>G (p.Arg59Gly)	TRMU (R59G)	Single nucleotide variant (5 prime UTR variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 901602	NM_018006.5(TRMU):c.1000C>T (p.Arg334Cys)	TRMU (R194C +2 more)	Single nucleotide variant (missense variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 901107	NM_018006.5(TRMU):c.*320A>G	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
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 899937	NM_018006.5(TRMU):c.*105A>G	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 899936	NM_018006.5(TRMU):c.*28G>A	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 899871	NM_018006.5(TRMU):c.773-4G>A	TRMU	Single nucleotide variant (intron variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GConflicting classifications of pathogenicity
Select item 899870	NM_018006.5(TRMU):c.705+10G>A	TRMU	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 807715	NM_018006.5(TRMU):c.653G>T (p.Ser218Ile)	TRMU (S104I +2 more)	Single nucleotide variant (missense variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely pathogenic
Select item 797650	NM_018006.5(TRMU):c.834C>T (p.Tyr278=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 797583	NM_018006.5(TRMU):c.83-5C>T	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 795484	NM_018006.5(TRMU):c.1125C>T (p.Asp375=)	TRMU (R208* +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 766086	NM_018006.5(TRMU):c.82+8G>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 763623	NM_018006.5(TRMU):c.910C>G (p.Leu304Val)	TRMU (L164V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 752432	NM_018006.5(TRMU):c.248+9G>A	TRMU	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 618447	NM_018006.5(TRMU):c.814G>A (p.Gly272Ser)	TRMU (G272S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 596117	NM_018006.5(TRMU):c.705+4C>T	TRMU	Single nucleotide variant (intron variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GUncertain significance
Select item 593601	NM_018006.5(TRMU):c.952C>T (p.Pro318Ser)	TRMU (P318S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 593278	NM_018006.5(TRMU):c.248+9_248+18del	TRMU	Deletion (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 593041	NM_018006.5(TRMU):c.351T>C (p.Asn117=)	TRMU	Single nucleotide variant (synonymous variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 561137	NM_018006.5(TRMU):c.497C>A (p.Ala166Glu)	TRMU (A166E +1 more)	Single nucleotide variant (missense variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
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 555168	NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)	MMUT (L736F)	Single nucleotide variant (missense variant)	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 501319	NM_015909.4(NBAS):c.2950del (p.Ile984fs)	NBAS (I984fs)	Deletion (frameshift variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +4 more	GPathogenic/Likely pathogenic
Select item 500143	NM_018006.5(TRMU):c.954C>T (p.Pro318=)	TRMU	Single nucleotide variant (synonymous variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GConflicting classifications of pathogenicity
Select item 441106	NM_018006.5(TRMU):c.880C>T (p.Arg294Trp)	TRMU (R294W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 378762	NM_018006.5(TRMU):c.873+12G>A	TRMU	Single nucleotide variant (intron variant)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more	GConflicting classifications of pathogenicity
Select item 378761	NM_018006.5(TRMU):c.567C>G (p.Ile189Met)	TRMU (I189M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 342028	NM_018006.5(TRMU):c.*276G>A	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GBenign
Select item 342027	NM_018006.5(TRMU):c.*266AG[1]	TRMU	Microsatellite (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely benign
Select item 342026	NM_018006.5(TRMU):c.*210G>C	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GBenign/Likely benign
Select item 342025	NM_018006.5(TRMU):c.*151C>T	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 342024	NM_018006.5(TRMU):c.*149G>A	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 342023	NM_018006.5(TRMU):c.*124G>C	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 342022	NM_018006.5(TRMU):c.*113G>A	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GUncertain significance
Select item 342021	NM_018006.5(TRMU):c.*51C>T	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	GLikely benign
Select item 342020	NM_018006.5(TRMU):c.*43T>G	TRMU	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 342019	NM_018006.5(TRMU):c.1218C>T (p.Ser406=)	TRMU	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 342018	NM_018006.5(TRMU):c.1188C>G (p.Gly396=)	TRMU (P229A +1 more)	Single nucleotide variant (synonymous variant +2 more)	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2