EIF2B1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 145552	GRCh38/hg38 12q24.31(chr12:123509825-123975309)x3	ATP6V0A2, CCDC92 +31 more	Copy number gain	See cases	GUncertain significance
Select item 307514	NM_001414.4(EIF2B1):c.*731T>C	EIF2B1	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease +1 more	GBenign
Select item 307515	NM_001414.4(EIF2B1):c.*665C>T	EIF2B1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 307516	NM_001414.4(EIF2B1):c.*640T>C	EIF2B1	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 883494	NM_001414.4(EIF2B1):c.*529G>A	EIF2B1	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 881126	NM_001414.4(EIF2B1):c.*508A>T	EIF2B1	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 307517	NM_001414.4(EIF2B1):c.*506C>T	EIF2B1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 307518	NM_001414.4(EIF2B1):c.*464A>G	EIF2B1	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease +1 more	GBenign
Select item 307519	NM_001414.4(EIF2B1):c.*426G>C	EIF2B1	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GBenign
Select item 307520	NM_001414.4(EIF2B1):c.*425G>C	EIF2B1	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 307521	NM_001414.4(EIF2B1):c.*422C>T	EIF2B1	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GUncertain significance
Select item 307522	NM_001414.4(EIF2B1):c.*395T>C	EIF2B1	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease +1 more	GBenign
Select item 307523	NM_001414.4(EIF2B1):c.*378C>T	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 307524	NM_001414.4(EIF2B1):c.*355G>A	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease +1 more	GBenign
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 307525	NM_001414.4(EIF2B1):c.*352C>G	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GBenign
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 307526	NM_001414.4(EIF2B1):c.*258A>G	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease +1 more	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 307527	NM_001414.4(EIF2B1):c.*196A>T	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	GBenign
Select item 882750	NM_001414.4(EIF2B1):c.*179A>C	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease +1 more	GBenign
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 258089	NM_001414.4(EIF2B1):c.*49G>A	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
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 2844897	NM_001414.4(EIF2B1):c.909C>T (p.Leu303=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous 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 1579754	NM_001414.4(EIF2B1):c.903C>T (p.Ile301=)	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 1509586	NM_001414.4(EIF2B1):c.897G>C (p.Glu299Asp)	EIF2B1, LOC126861664 (E299D)	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 732578	NM_001414.4(EIF2B1):c.891C>T (p.Ser297=)	LOC126861664, EIF2B1	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 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 2992127	NM_001414.4(EIF2B1):c.873G>A (p.Leu291=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 2981686	NM_001414.4(EIF2B1):c.867C>T (p.Gly289=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1426819	NM_001414.4(EIF2B1):c.860A>G (p.Asp287Gly)	EIF2B1, LOC126861664 (D287G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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=)	LOC126861664, EIF2B1	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 217278	NM_001414.4(EIF2B1):c.833C>G (p.Pro278Arg)	LOC126861664, EIF2B1 (P278R)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GPathogenic
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 217281	NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys)	EIF2B1, LOC126861664 (Y275C)	Single nucleotide variant (missense variant)	Vanishing white matter disease +2 more	GConflicting classifications of pathogenicity
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 1917279	NM_001414.4(EIF2B1):c.819C>T (p.Val273=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1906251	NM_001414.4(EIF2B1):c.817G>A (p.Val273Ile)	EIF2B1, LOC126861664 (V273I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769348	NM_001414.4(EIF2B1):c.812_813insT (p.Trp272fs)	EIF2B1, LOC126861664 (W272fs)	Insertion (frameshift variant)	not provided	GPathogenic
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 2824669	NM_001414.4(EIF2B1):c.807G>A (p.Glu269=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous 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 2984521	NM_001414.4(EIF2B1):c.786T>C (p.Thr262=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2140196	NM_001414.4(EIF2B1):c.779C>T (p.Ala260Val)	EIF2B1, LOC126861664 (A260V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891124	NM_001414.4(EIF2B1):c.773_777dup (p.Ala260fs)	EIF2B1, LOC126861664 (A260fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1524276	NM_001414.4(EIF2B1):c.778G>A (p.Ala260Thr)	EIF2B1, LOC126861664 (A260T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1616596	NM_001414.4(EIF2B1):c.777C>T (p.Val259=)	EIF2B1, LOC126861664	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1683289	NM_001414.4(EIF2B1):c.770_771del (p.Leu257fs)	EIF2B1, LOC126861664 (L257fs)	Microsatellite (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2892296	NM_001414.4(EIF2B1):c.765C>T (p.Asp255=)	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 1918953	NM_001414.4(EIF2B1):c.754-9T>C	EIF2B1, LOC126861664	Single nucleotide variant (intron 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 2753809	NM_001414.4(EIF2B1):c.754-17T>G	EIF2B1, LOC126861664	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633142	NM_001414.4(EIF2B1):c.754-19T>C	EIF2B1, LOC126861664	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974338	NM_001414.4(EIF2B1):c.753+18T>G	EIF2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988989	NM_001414.4(EIF2B1):c.753+14A>G	EIF2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844363	NM_001414.4(EIF2B1):c.753+10_753+13del	EIF2B1	Deletion (intron variant)	not provided	GLikely benign
Select item 738220	NM_001414.4(EIF2B1):c.753+7G>A	EIF2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2342295	NM_001414.4(EIF2B1):c.736G>A (p.Val246Ile)	EIF2B1 (V246I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 198774	NM_001414.4(EIF2B1):c.735C>T (p.Asp245=)	EIF2B1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2693620	NM_001414.4(EIF2B1):c.726C>T (p.Asn242=)	EIF2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829479	NM_001414.4(EIF2B1):c.723A>C (p.Leu241=)	EIF2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1461865	NM_001414.4(EIF2B1):c.719del (p.Pro240fs)	EIF2B1 (P240fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2781763	NM_001414.4(EIF2B1):c.717T>C (p.Phe239=)	EIF2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 217282	NM_001414.4(EIF2B1):c.715T>G (p.Phe239Val)	EIF2B1 (F239V)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GPathogenic
Select item 2765937	NM_001414.4(EIF2B1):c.708C>T (p.Val236=)	EIF2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2762330	NM_001414.4(EIF2B1):c.693_694del (p.Ser232fs)	EIF2B1 (S232fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1906761	NM_001414.4(EIF2B1):c.680A>G (p.Tyr227Cys)	EIF2B1 (Y227C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 882752	NM_001414.4(EIF2B1):c.671A>G (p.Lys224Arg)	EIF2B1 (K224R)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 2570853	NM_001414.4(EIF2B1):c.666G>A (p.Gln222=)	EIF2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1043126	NM_001414.4(EIF2B1):c.662C>T (p.Ala221Val)	EIF2B1 (A221V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829720	NM_001414.4(EIF2B1):c.657C>T (p.Ala219=)	EIF2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889787	NM_001414.4(EIF2B1):c.654T>C (p.Cys218=)	EIF2B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3274963	NM_001414.4(EIF2B1):c.649G>T (p.Val217Leu)	EIF2B1 (V217L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537812	NM_001414.4(EIF2B1):c.635C>A (p.Thr212Asn)	EIF2B1 (T212N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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