"Illumina Laboratory Services, Illumina"[submitter] AND "LOC126861664" - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 307524	NM_001414.4(EIF2B1):c.*355G>A	EIF2B1, LOC126861664	Single nucleotide variant (3 prime UTR variant)	Vanishing white matter disease	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	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	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)	Vanishing white matter disease +1 more	GBenign
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