"Genome-Nilou Lab"[submitter] AND "NAXE"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1167828	NM_144772.3(NAXE):c.55G>C (p.Val19Leu)	NAXE (V19L)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 +1 more	GBenign
Select item 1167829	NM_144772.3(NAXE):c.291+7G>A	NAXE	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167010	NM_144772.3(NAXE):c.292-14G>A	NAXE	Single nucleotide variant (intron variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 +1 more	GBenign
Select item 1192476	NM_144772.3(NAXE):c.664+28G>A	NAXE	Single nucleotide variant (intron variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 +1 more	GBenign
Select item 1167830	NM_144772.3(NAXE):c.717A>C (p.Ile239=)	NAXE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1167831	NM_144772.3(NAXE):c.804G>A (p.Glu268=)	NAXE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1167832	NM_144772.3(NAXE):c.843C>T (p.Thr281=)	NAXE	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1192477	NM_144772.3(NAXE):c.*22T>C	NAXE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

ClinVar