ClinVar for MedGen (Select 1830482) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068028	NM_001414.4(EIF2B1):c.392C>T (p.Ser131Phe)	EIF2B1 (S131F)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 1	GUncertain significance
Select item 3067917	NM_001414.4(EIF2B1):c.915_916del (p.Ter306ThrextTer?)	EIF2B1, LOC126861664	Deletion (frameshift variant)	Leukoencephalopathy with vanishing white matter 1	GUncertain significance
Select item 2689011	NM_001414.4(EIF2B1):c.385G>A (p.Ala129Thr)	EIF2B1 (A129T)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 1	GUncertain significance
Select item 2585016	NM_003907.3(EIF2B5):c.633G>C (p.Arg211Ser)	EIF2B5 (R211S)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 1	GUncertain significance
Select item 2584983	NM_001414.4(EIF2B1):c.752A>G (p.Lys251Arg)	EIF2B1 (K251R)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 1	GUncertain significance
Select item 2584982	NM_003907.3(EIF2B5):c.2065G>A (p.Asp689Asn)	EIF2B5 (D689N)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 1	GUncertain significance
Select item 2584935	NM_001414.4(EIF2B1):c.875C>G (p.Thr292Arg)	EIF2B1, LOC126861664 (T292R)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 1	GUncertain significance
Select item 2429425	NM_001034116.2(EIF2B4):c.639G>C (p.Gln213His)	EIF2B4 (Q182H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176384	NM_001414.4(EIF2B1):c.13G>A (p.Glu5Lys)	EIF2B1 (E5K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2154716	NM_003907.3(EIF2B5):c.2093G>A (p.Arg698His)	EIF2B5 (R698H)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 1 +1 more	GUncertain significance
Select item 2043713	NM_003907.3(EIF2B5):c.1832C>T (p.Pro611Leu)	EIF2B5 (P611L)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 1 +2 more	GUncertain significance
Select item 1691306	NM_020365.5(EIF2B3):c.687T>G (p.Ile229Met)	EIF2B3 (I229M)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GConflicting classifications of pathogenicity
Select item 995942	NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter)	EIF2B1 (R147*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 942204	NM_003907.3(EIF2B5):c.806G>A (p.Arg269Gln)	EIF2B5 (R269Q)	Single nucleotide variant (missense variant)	Vanishing white matter disease +3 more	GPathogenic/Likely pathogenic
Select item 870560	NM_020365.5(EIF2B3):c.1277T>C (p.Ile426Thr)	EIF2B3 (I426T)	Single nucleotide variant (missense variant +1 more)	See cases +2 more	GUncertain significance
Select item 617677	NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala)	EIF2B3 (V30A)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GLikely pathogenic
Select item 420063	NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln)	EIF2B4 (R208Q +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 372361	NM_003907.3(EIF2B5):c.896G>A (p.Arg299His)	EIF2B5 (R299H)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GPathogenic/Likely pathogenic
Select item 195203	NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe)	EIF2B5 (L106F)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 1 +3 more	GPathogenic
Select item 4336	NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly)	EIF2B2 (E213G)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 4123	NM_001414.4(EIF2B1):c.252+1G>A	EIF2B1	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 21