ClinVar for MedGen (Select 342403) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391194	NM_001142416.2(AIMP1):c.347del (p.Gly116fs)	AIMP1 (G116fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 3	GLikely pathogenic
Select item 3384795	NM_001142416.2(AIMP1):c.895G>A (p.Gly299Arg)	AIMP1 (G299R)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 3	GPathogenic
Select item 2584934	NM_001142416.2(AIMP1):c.716T>C (p.Leu239Ser)	AIMP1 (L239S)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 3	GUncertain significance
Select item 2438946	NM_001142416.2(AIMP1):c.800AGA[2] (p.Lys269del)	AIMP1 (K269del)	Microsatellite (inframe_deletion)	Hypomyelinating leukodystrophy 3	GUncertain significance
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 2159413	NM_001142416.2(AIMP1):c.191_192del (p.Gln64fs)	AIMP1 (Q64fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 1497296	NM_001142416.2(AIMP1):c.7AAT[1] (p.Asn4del)	AIMP1 (N4del)	Microsatellite (inframe_deletion)	not provided	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 585142	NM_001142416.2(AIMP1):c.904A>G (p.Arg302Gly)	AIMP1 (R302G)	Single nucleotide variant (missense variant)	Hypomyelinating leukodystrophy 3	Gnot provided
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 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 30372	NM_001142416.2(AIMP1):c.292_293del (p.Gln98fs)	AIMP1 (Q98fs)	Deletion (frameshift variant)	Hypomyelinating leukodystrophy 3	GPathogenic