Related gene-specific medical variations for Gene (Select 1967) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 62

	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 3013246	NM_001414.4(EIF2B1):c.771C>T (p.Leu257=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992127	NM_001414.4(EIF2B1):c.873G>A (p.Leu291=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984521	NM_001414.4(EIF2B1):c.786T>C (p.Thr262=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981686	NM_001414.4(EIF2B1):c.867C>T (p.Gly289=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969477	NM_001414.4(EIF2B1):c.900C>T (p.Leu300=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961374	NM_001414.4(EIF2B1):c.754-7T>C	EIF2B1, LOC126861664	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898199	NM_001414.4(EIF2B1):c.804G>A (p.Glu268=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892296	NM_001414.4(EIF2B1):c.765C>T (p.Asp255=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	EIF2B1-related disorder +1 more	GLikely benign
Select item 2891124	NM_001414.4(EIF2B1):c.773_777dup (p.Ala260fs)	EIF2B1, LOC126861664 (A260fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2844897	NM_001414.4(EIF2B1):c.909C>T (p.Leu303=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824669	NM_001414.4(EIF2B1):c.807G>A (p.Glu269=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823944	NM_001414.4(EIF2B1):c.837C>T (p.Ser279=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801144	NM_001414.4(EIF2B1):c.852G>A (p.Leu284=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797947	NM_001414.4(EIF2B1):c.849G>C (p.Leu283=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787901	NM_001414.4(EIF2B1):c.777C>G (p.Val259=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784025	NM_001414.4(EIF2B1):c.754-17T>A	EIF2B1, LOC126861664	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769348	NM_001414.4(EIF2B1):c.812_813insT (p.Trp272fs)	EIF2B1, LOC126861664 (W272fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2753809	NM_001414.4(EIF2B1):c.754-17T>G	EIF2B1, LOC126861664	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2736177	NM_001414.4(EIF2B1):c.909C>G (p.Leu303=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719607	NM_001414.4(EIF2B1):c.828T>C (p.Thr276=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2643513	NM_001414.4(EIF2B1):c.867C>G (p.Gly289=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2140196	NM_001414.4(EIF2B1):c.779C>T (p.Ala260Val)	EIF2B1, LOC126861664 (A260V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130873	NM_001414.4(EIF2B1):c.869T>C (p.Val290Ala)	EIF2B1, LOC126861664 (V290A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105244	NM_001414.4(EIF2B1):c.894T>C (p.Asp298=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1918953	NM_001414.4(EIF2B1):c.754-9T>C	EIF2B1, LOC126861664	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917279	NM_001414.4(EIF2B1):c.819C>T (p.Val273=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910644	NM_001414.4(EIF2B1):c.885A>C (p.Ala295=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906251	NM_001414.4(EIF2B1):c.817G>A (p.Val273Ile)	EIF2B1, LOC126861664 (V273I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683289	NM_001414.4(EIF2B1):c.770_771del (p.Leu257fs)	EIF2B1, LOC126861664 (L257fs)	Microsatellite (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1667617	NM_001414.4(EIF2B1):c.819C>G (p.Val273=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1633142	NM_001414.4(EIF2B1):c.754-19T>C	LOC126861664, EIF2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1616596	NM_001414.4(EIF2B1):c.777C>T (p.Val259=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1579754	NM_001414.4(EIF2B1):c.903C>T (p.Ile301=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1524276	NM_001414.4(EIF2B1):c.778G>A (p.Ala260Thr)	EIF2B1, LOC126861664 (A260T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1509586	NM_001414.4(EIF2B1):c.897G>C (p.Glu299Asp)	EIF2B1, LOC126861664 (E299D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1465208	NM_001414.4(EIF2B1):c.820G>C (p.Asp274His)	EIF2B1, LOC126861664 (D274H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1426819	NM_001414.4(EIF2B1):c.860A>G (p.Asp287Gly)	EIF2B1, LOC126861664 (D287G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 882751	NM_001414.4(EIF2B1):c.*149C>G	LOC126861664, EIF2B1	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 882750	NM_001414.4(EIF2B1):c.*179A>C	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GBenign
Select item 881599	NM_001414.4(EIF2B1):c.*219C>T	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 881598	NM_001414.4(EIF2B1):c.*332A>G	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 881597	NM_001414.4(EIF2B1):c.*354C>A	LOC126861664, EIF2B1	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GBenign
Select item 762889	NM_001414.4(EIF2B1):c.780G>A (p.Ala260=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738949	NM_001414.4(EIF2B1):c.813G>A (p.Pro271=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732578	NM_001414.4(EIF2B1):c.891C>T (p.Ser297=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 548549	NM_001414.4(EIF2B1):c.389A>G (p.Tyr130Cys)	EIF2B1 (Y130C)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 307528	NM_001414.4(EIF2B1):c.868G>A (p.Val290Met)	EIF2B1, LOC126861664 (V290M)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 307527	NM_001414.4(EIF2B1):c.*196A>T	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GBenign
Select item 307526	NM_001414.4(EIF2B1):c.*258A>G	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GBenign
Select item 307525	NM_001414.4(EIF2B1):c.*352C>G	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GBenign
Select item 307524	NM_001414.4(EIF2B1):c.*355G>A	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GBenign
Select item 307523	NM_001414.4(EIF2B1):c.*378C>T	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GBenign
Select item 258092	NM_001414.4(EIF2B1):c.551+38C>A	EIF2B1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 258091	NM_001414.4(EIF2B1):c.483-22G>T	EIF2B1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 258090	NM_001414.4(EIF2B1):c.369+50C>T	EIF2B1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258089	NM_001414.4(EIF2B1):c.*49G>A	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease +1 more	GBenign
Select item 217281	NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys)	LOC126861664, EIF2B1 (Y275C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 217278	NM_001414.4(EIF2B1):c.833C>G (p.Pro278Arg)	LOC126861664, EIF2B1 (P278R)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 62