Related gene-specific medical variations for Gene (Select 9255) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246736	NC_000004.11:g.(?_107268663)_(107268849_?)del	AIMP1	Deletion	not provided	GPathogenic
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 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 2438946	NM_001142416.2(AIMP1):c.800AGA[2] (p.Lys269del)	AIMP1 (K269del)	Microsatellite (inframe_deletion)	Hypomyelinating leukodystrophy 3	GUncertain significance
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 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

ClinVar