ClinVar for MedGen (Select 1830483) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024560	NM_003907.3(EIF2B5):c.1841C>G (p.Ser614Ter)	EIF2B5 (S614*)	Single nucleotide variant (nonsense)	Leukoencephalopathy with vanishing white matter 5	GPathogenic
Select item 2637944	NM_003907.3(EIF2B5):c.320+68C>G	EIF2B5	Single nucleotide variant (intron variant)	Leukoencephalopathy with vanishing white matter 5	GUncertain significance
Select item 2441203	NM_003907.3(EIF2B5):c.2049C>G (p.Ser683Arg)	EIF2B5 (S683R)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5	GUncertain significance
Select item 2201006	NM_003907.3(EIF2B5):c.515G>A (p.Arg172Gln)	EIF2B5 (R172Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1517580	NM_003907.3(EIF2B5):c.664C>T (p.Arg222Trp)	EIF2B5 (R222W)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5 +1 more	GConflicting classifications of pathogenicity
Select item 1208981	NM_003907.3(EIF2B5):c.1280C>T (p.Pro427Leu)	EIF2B5 (P427L)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5 +2 more	GPathogenic/Likely pathogenic
Select item 872660	NM_003907.3(EIF2B5):c.1208C>T (p.Ala403Val)	EIF2B5 (A403V)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GPathogenic/Likely pathogenic
Select item 735948	NM_003907.3(EIF2B5):c.1608G>C (p.Glu536Asp)	EIF2B5 (E536D)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5 +1 more	GConflicting classifications of pathogenicity
Select item 735947	NM_003907.3(EIF2B5):c.1167G>A (p.Val389=)	EIF2B5	Single nucleotide variant (synonymous variant)	Leukoencephalopathy with vanishing white matter 5 +1 more	GConflicting classifications of pathogenicity
Select item 666195	NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp)	EIF2B5 (R339W)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GPathogenic/Likely pathogenic
Select item 40178	NM_003907.3(EIF2B5):c.808G>C (p.Asp270His)	EIF2B5 (D270H)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5	GPathogenic
Select item 5952	NM_003907.3(EIF2B5):c.167T>G (p.Phe56Cys)	EIF2B5, LOC129938041 (F56C)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5	GPathogenic
Select item 5951	NM_003907.3(EIF2B5):c.166T>G (p.Phe56Val)	EIF2B5, LOC129938041 (F56V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 5950	NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)	EIF2B5 (R315H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5949	NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met)	EIF2B5 (T182M)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GPathogenic/Likely pathogenic
Select item 5948	NM_003907.3(EIF2B5):c.583C>T (p.Arg195Cys)	EIF2B5 (R195C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 5947	NM_003907.3(EIF2B5):c.925G>C (p.Val309Leu)	EIF2B5 (V309L)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GLikely pathogenic
Select item 5946	NM_003907.3(EIF2B5):c.584G>A (p.Arg195His)	EIF2B5 (R195H)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 5945	NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)	EIF2B5 (R113H)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 5944	NM_003907.3(EIF2B5):c.1157G>T (p.Gly386Val)	EIF2B5 (G386V)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5	GPathogenic
Select item 5943	NM_003907.3(EIF2B5):c.1882T>C (p.Trp628Arg)	EIF2B5 (W628R)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 5	GPathogenic
Select item 5942	NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala)	EIF2B5 (T91A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 22