AIMP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 58034	GRCh38/hg38 4q24-25(chr4:105778347-110206873)x3	AIMP1, CASP6 +106 more	Copy number gain	See cases	GPathogenic
Select item 1272300	NM_004757.4(AIMP1):c.-132C>T	AIMP1, TBCK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1243501	NM_004757.4(AIMP1):c.-39C>T	AIMP1, TBCK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2501160	NM_004757.4(AIMP1):c.-26+204A>G	AIMP1, LOC129992924 +1 more (M1V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 809652	NM_001142416.2(AIMP1):c.-70G>C	AIMP1, LOC129992924 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3034702	NM_001142416.2(AIMP1):c.-34C>T	AIMP1, LOC129992924 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	AIMP1-related disorder	GLikely benign
Select item 1283130	NM_001142416.2(AIMP1):c.-26+264A>G	AIMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279491	NM_001142416.2(AIMP1):c.-25-6C>A	AIMP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1497296	NM_001142416.2(AIMP1):c.7AAT[1] (p.Asn4del)	AIMP1 (N4del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2479892	NM_001142416.2(AIMP1):c.10A>G (p.Asn4Asp)	AIMP1 (N4D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1169308	NM_001142416.2(AIMP1):c.24G>C (p.Leu8=)	AIMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3102880	NM_001142416.2(AIMP1):c.41A>G (p.Lys14Arg)	AIMP1 (K14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2008274	NM_001142416.2(AIMP1):c.67G>C (p.Glu23Gln)	AIMP1 (E23Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169401	NM_001142416.2(AIMP1):c.69A>C (p.Glu23Asp)	AIMP1 (E23D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1431757	NM_001142416.2(AIMP1):c.71A>T (p.Tyr24Phe)	AIMP1 (Y24F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3372766	NM_001142416.2(AIMP1):c.73C>A (p.Leu25Ile)	AIMP1 (L25I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088801	NM_001142416.2(AIMP1):c.78del (p.Lys26fs)	AIMP1 (K26fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1172642	NM_001142416.2(AIMP1):c.82C>T (p.Gln28Ter)	AIMP1 (Q28*)	Single nucleotide variant (nonsense)	Hypotonia	GPathogenic
Select item 2017299	NM_001142416.2(AIMP1):c.89_92del (p.Ser30fs)	AIMP1 (S30fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3279023	NM_001142416.2(AIMP1):c.92T>C (p.Leu31Pro)	AIMP1 (L31P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1978153	NM_001142416.2(AIMP1):c.96T>C (p.Leu32=)	AIMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 162377	NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter)	AIMP1 (Q39*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3102846	NM_001142416.2(AIMP1):c.121A>G (p.Thr41Ala)	AIMP1 (T41A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1950184	NM_001142416.2(AIMP1):c.125T>C (p.Leu42Ser)	AIMP1 (L42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337791	NM_001142416.2(AIMP1):c.141A>T (p.Lys47Asn)	AIMP1 (K47N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576924	NM_001142416.2(AIMP1):c.145C>T (p.Arg49Ter)	AIMP1 (R49*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1901311	NM_001142416.2(AIMP1):c.146G>A (p.Arg49Gln)	AIMP1 (R49Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 590774	NM_001142416.2(AIMP1):c.162del (p.Lys54fs)	AIMP1 (K54fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 3 +1 more	GPathogenic
Select item 3102856	NM_001142416.2(AIMP1):c.167A>G (p.Lys56Arg)	AIMP1 (K56R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2159413	NM_001142416.2(AIMP1):c.191_192del (p.Gln64fs)	AIMP1 (Q64fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1436698	NM_001142416.2(AIMP1):c.212T>A (p.Ile71Asn)	AIMP1 (I71N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676833	NM_001142416.2(AIMP1):c.223G>C (p.Val75Leu)	AIMP1 (V75L)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 3	GUncertain significance
Select item 1304676	NM_001142416.2(AIMP1):c.223G>A (p.Val75Met)	AIMP1 (V75M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579589	NM_001142416.2(AIMP1):c.223+1G>A	AIMP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1233909	NM_001142416.2(AIMP1):c.223+169T>C	AIMP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2963708	NM_001142416.2(AIMP1):c.224-15C>T	AIMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1166295	NM_001142416.2(AIMP1):c.235C>G (p.Pro79Ala)	AIMP1 (P79A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2145831	NM_001142416.2(AIMP1):c.248G>A (p.Gly83Asp)	AIMP1 (G83D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1905486	NM_001142416.2(AIMP1):c.261C>T (p.His87=)	AIMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102860	NM_001142416.2(AIMP1):c.262G>A (p.Ala88Thr)	AIMP1 (A88T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1420407	NM_001142416.2(AIMP1):c.266A>G (p.Asn89Ser)	AIMP1 (N89S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2161960	NM_001142416.2(AIMP1):c.271A>G (p.Met91Val)	AIMP1 (M91V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2483367	NM_001142416.2(AIMP1):c.272T>C (p.Met91Thr)	AIMP1 (M91T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 30372	NM_001142416.2(AIMP1):c.292_293del (p.Gln98fs)	AIMP1 (Q98fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 3	GPathogenic
Select item 3279011	NM_001142416.2(AIMP1):c.292C>A (p.Gln98Lys)	AIMP1 (Q98K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279012	NM_001142416.2(AIMP1):c.293A>C (p.Gln98Pro)	AIMP1 (Q98P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102867	NM_001142416.2(AIMP1):c.299C>T (p.Thr100Ile)	AIMP1 (T100I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1916604	NM_001142416.2(AIMP1):c.300A>G (p.Thr100=)	AIMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771144	NM_001142416.2(AIMP1):c.309A>C (p.Thr103=)	AIMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 446035	NM_001142416.2(AIMP1):c.310A>G (p.Thr104Ala)	AIMP1 (T104A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1570521	NM_001142416.2(AIMP1):c.312C>T (p.Thr104=)	AIMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1363132	NM_001142416.2(AIMP1):c.313G>A (p.Val105Ile)	AIMP1 (V105I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484170	NM_001142416.2(AIMP1):c.323G>C (p.Gly108Ala)	AIMP1 (G108A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 243083	NM_001142416.2(AIMP1):c.334C>T (p.Gln112Ter)	AIMP1 (Q112*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3363780	NM_001142416.2(AIMP1):c.347G>A (p.Gly116Glu)	AIMP1 (G116E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776008	NM_001142416.2(AIMP1):c.349A>G (p.Thr117Ala)	AIMP1 (T117A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3102869	NM_001142416.2(AIMP1):c.357C>G (p.Asp119Glu)	AIMP1 (D119E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 732534	NM_001142416.2(AIMP1):c.357C>T (p.Asp119=)	AIMP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 376970	NM_001142416.2(AIMP1):c.362_366del (p.Lys121fs)	AIMP1 (K121fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 2361483	NM_001142416.2(AIMP1):c.359A>G (p.Glu120Gly)	AIMP1 (E120G)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 3 +1 more	GUncertain significance
Select item 1992165	NM_001142416.2(AIMP1):c.363G>T (p.Lys121Asn)	AIMP1 (K121N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738323	NM_001142416.2(AIMP1):c.363G>C (p.Lys121Asn)	AIMP1 (K121N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3279010	NM_001142416.2(AIMP1):c.383A>C (p.Glu128Ala)	AIMP1 (E128A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1918139	NM_001142416.2(AIMP1):c.391+20A>G	AIMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3102874	NM_001142416.2(AIMP1):c.392G>A (p.Gly131Glu)	AIMP1 (G131E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 503844	NM_001142416.2(AIMP1):c.397AAG[1] (p.Lys134del)	AIMP1 (K134del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2750527	NM_001142416.2(AIMP1):c.411del (p.Lys137fs)	AIMP1 (K137fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3279030	NM_001142416.2(AIMP1):c.427G>A (p.Gly143Arg)	AIMP1 (G143R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1921684	NM_001142416.2(AIMP1):c.432T>A (p.Ser144Arg)	AIMP1 (S144R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946197	NM_001142416.2(AIMP1):c.435C>T (p.Ala145=)	AIMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064367	NM_001142416.2(AIMP1):c.436G>A (p.Asp146Asn)	AIMP1 (D146N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200486	NM_001142416.2(AIMP1):c.459C>A (p.Ser153=)	AIMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927973	NM_001142416.2(AIMP1):c.460C>T (p.Arg154Cys)	AIMP1 (R154C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2399710	NM_001142416.2(AIMP1):c.461G>A (p.Arg154His)	AIMP1 (R154H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488690	NM_001142416.2(AIMP1):c.478G>C (p.Gly160Arg)	AIMP1 (G160R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2114858	NM_001142416.2(AIMP1):c.479G>A (p.Gly160Asp)	AIMP1 (G160D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1435154	NM_001142416.2(AIMP1):c.488T>A (p.Ile163Lys)	AIMP1 (I163K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399086	NM_001142416.2(AIMP1):c.491C>T (p.Thr164Ile)	AIMP1 (T164I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536859	NM_001142416.2(AIMP1):c.518C>A (p.Ser173Tyr)	AIMP1 (S173Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729494	NM_001142416.2(AIMP1):c.543C>T (p.Val181=)	AIMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102891	NM_001142416.2(AIMP1):c.544G>A (p.Gly182Arg)	AIMP1 (G182R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2090989	NM_001142416.2(AIMP1):c.561G>T (p.Arg187Ser)	AIMP1 (R187S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2145571	NM_001142416.2(AIMP1):c.578T>A (p.Leu193Gln)	AIMP1 (L193Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2413311	NM_001142416.2(AIMP1):c.582G>A (p.Val194=)	AIMP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738402	NM_001142416.2(AIMP1):c.592C>T (p.Pro198Ser)	AIMP1 (P198S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2411204	NM_001142416.2(AIMP1):c.599A>G (p.Glu200Gly)	AIMP1 (E200G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2080205	NM_001142416.2(AIMP1):c.603+3A>G	AIMP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1178512	NM_001142416.2(AIMP1):c.603+23C>T	AIMP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1226599	NM_001142416.2(AIMP1):c.604-51A>T	AIMP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2720884	NM_001142416.2(AIMP1):c.604-10T>C	AIMP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3032665	NM_001142416.2(AIMP1):c.636C>T (p.Asn212=)	AIMP1	Single nucleotide variant (synonymous variant)	AIMP1-related disorder	GLikely benign
Select item 1442607	NM_001142416.2(AIMP1):c.658G>A (p.Gly220Arg)	AIMP1 (G220R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788051	NM_001142416.2(AIMP1):c.670C>T (p.Gln224Ter)	AIMP1 (Q224*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3102900	NM_001142416.2(AIMP1):c.671A>G (p.Gln224Arg)	AIMP1 (Q224R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3279015	NM_001142416.2(AIMP1):c.684G>A (p.Met228Ile)	AIMP1 (M228I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365093	NM_001142416.2(AIMP1):c.692_695dup (p.Pro233fs)	AIMP1 (P233fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2630166	NM_001142416.2(AIMP1):c.706del (p.Ile236fs)	AIMP1 (I236fs)	Deletion (frameshift variant)	AIMP1-related disorder	GLikely pathogenic
Select item 2190720	NM_001142416.2(AIMP1):c.707T>C (p.Ile236Thr)	AIMP1 (I236T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2584934	NM_001142416.2(AIMP1):c.716T>C (p.Leu239Ser)	AIMP1 (L239S)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 3	GUncertain significance

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