ClinVar for MedGen (Select 934642) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2045406	NM_144772.3(NAXE):c.760C>T (p.Arg254Cys)	NAXE (R254C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1333657	NM_144772.3(NAXE):c.536dup (p.Tyr180fs)	NAXE (Y180fs)	Duplication (frameshift variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GPathogenic
Select item 1324778	NM_144772.3(NAXE):c.668G>A (p.Trp223Ter)	NAXE (W223*)	Single nucleotide variant (nonsense)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GLikely pathogenic
Select item 1320164	NM_144772.3(NAXE):c.229del (p.Gln77fs)	NAXE (Q77fs)	Deletion (frameshift variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GPathogenic
Select item 1320163	NM_144772.3(NAXE):c.611T>C (p.Leu204Pro)	NAXE (L204P)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GLikely pathogenic
Select item 1252042	NM_144772.3(NAXE):c.262G>T (p.Gly88Trp)	NAXE (G88W)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GPathogenic
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 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 1167832	NM_144772.3(NAXE):c.843C>T (p.Thr281=)	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 1167830	NM_144772.3(NAXE):c.717A>C (p.Ile239=)	NAXE	Single nucleotide variant (synonymous variant)	not provided +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 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 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 1029166	NM_144772.3(NAXE):c.430A>C (p.Lys144Gln)	NAXE (K144Q)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GUncertain significance
Select item 1029165	NM_144772.3(NAXE):c.385C>G (p.Arg129Gly)	NAXE (R129G)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GUncertain significance
Select item 873152	NM_144772.3(NAXE):c.565G>A (p.Gly189Ser)	NAXE (G189S)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GPathogenic
Select item 634634	NM_144772.3(NAXE):c.326dup (p.Thr110fs)	NAXE (T110fs)	Duplication (frameshift variant)	NAXE-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 311103	NM_001846.4(COL4A2):c.549+5G>A	COL4A2	Single nucleotide variant (intron variant)	Porencephaly 2	GUncertain significance
Select item 268119	NM_144772.3(NAXE):c.804_807delinsA (p.Lys270del)	NAXE (K270del)	Indel (inframe_deletion)	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	GPathogenic

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Items: 21