"PreventionGenetics, part of Exact Sciences"[submitter] AND "AIMP1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 162377	NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter)	AIMP1 (Q39*)	Single nucleotide variant (nonsense)	AIMP1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 776008	NM_001142416.2(AIMP1):c.349A>G (p.Thr117Ala)	AIMP1 (T117A)	Single nucleotide variant (missense variant)	AIMP1-related disorder +1 more	GBenign
Select item 738323	NM_001142416.2(AIMP1):c.363G>C (p.Lys121Asn)	AIMP1 (K121N)	Single nucleotide variant (missense variant)	not provided +1 more	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 2630166	NM_001142416.2(AIMP1):c.706del (p.Ile236fs)	AIMP1 (I236fs)	Deletion (frameshift variant)	AIMP1-related disorder	GUncertain significance
Select item 2190720	NM_001142416.2(AIMP1):c.707T>C (p.Ile236Thr)	AIMP1 (I236T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar