"GeneDx"[submitter] AND "NAXE"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1265056	NC_000001.11:g.156591622T>C	NAXE	Single nucleotide variant	not provided	GBenign
Select item 1287984	NC_000001.11:g.156591769CCGGG[5]	NAXE	Microsatellite	not provided	GBenign
Select item 1247761	NC_000001.11:g.156591768_156591769insTCGGGCCGGG	NAXE	Insertion	not provided	GBenign
Select item 1239516	NC_000001.11:g.156591769CCGGG[6]	NAXE	Microsatellite	not provided	GBenign
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 2506103	NM_144772.3(NAXE):c.128C>A (p.Ser43Ter)	NAXE (S43*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1193587	NM_144772.3(NAXE):c.257T>C (p.Leu86Pro)	NAXE (L86P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 423748	NM_144772.3(NAXE):c.468_478delinsATCCCTTTCCTTGGGG (p.Gln157fs)	NAXE (Q157fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2430548	NM_144772.3(NAXE):c.473G>A (p.Cys158Tyr)	NAXE (C158Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275164	NM_144772.3(NAXE):c.517-219T>C	NAXE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250183	NM_144772.3(NAXE):c.517-175A>G	NAXE	Single nucleotide variant (intron variant)	not provided	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 1284144	NM_144772.3(NAXE):c.664+57T>G	NAXE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240718	NM_144772.3(NAXE):c.664+94G>A	NAXE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289560	NM_144772.3(NAXE):c.664+114A>T	NAXE	Single nucleotide variant (intron variant)	not provided	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 423273	NM_144772.3(NAXE):c.733A>C (p.Lys245Gln)	NAXE (K245Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307786	NM_144772.3(NAXE):c.776G>A (p.Gly259Glu)	NAXE (G259E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
Select item 1229248	NM_144772.3(NAXE):c.*116C>G	NAXE	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 24