"NFE2L2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2630074	NM_006164.5(NFE2L2):c.1765G>A (p.Gly589Ser)	NFE2L2 (G489S +5 more)	Single nucleotide variant (missense variant)	NFE2L2-related disorder	GUncertain significance
Select item 2742082	NM_006164.5(NFE2L2):c.1685T>G (p.Leu562Arg)	NFE2L2 (L539R +5 more)	Single nucleotide variant (missense variant)	NFE2L2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1990127	NM_006164.5(NFE2L2):c.1497G>A (p.Arg499=)	NFE2L2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2187153	NM_006164.5(NFE2L2):c.1166A>G (p.Lys389Arg)	NFE2L2 (K389R +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1531060	NM_006164.5(NFE2L2):c.1026T>C (p.Ser342=)	NFE2L2	Single nucleotide variant (synonymous variant)	NFE2L2-related disorder +1 more	GLikely benign
Select item 3034029	NM_006164.5(NFE2L2):c.813A>T (p.Leu271Phe)	NFE2L2 (L171F +5 more)	Single nucleotide variant (missense variant)	NFE2L2-related disorder	GUncertain significance
Select item 134906	NM_006164.5(NFE2L2):c.802G>A (p.Val268Met)	NFE2L2 (V252M +5 more)	Single nucleotide variant (missense variant)	NFE2L2-related disorder +1 more	GBenign/Likely benign
Select item 1664489	NM_006164.5(NFE2L2):c.697C>T (p.Pro233Ser)	NFE2L2 (P133S +5 more)	Single nucleotide variant (missense variant)	NFE2L2-related disorder +1 more	GLikely benign
Select item 2628870	NM_006164.5(NFE2L2):c.445G>A (p.Gly149Ser)	NFE2L2 (G119S +5 more)	Single nucleotide variant (missense variant)	NFE2L2-related disorder +1 more	GUncertain significance
Select item 3044884	NM_006164.5(NFE2L2):c.313-8T>C	NFE2L2	Single nucleotide variant (intron variant)	NFE2L2-related disorder	GLikely benign
Select item 2163184	NM_006164.5(NFE2L2):c.307T>C (p.Ser103Pro)	NFE2L2 (S87P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2502603	NM_006164.5(NFE2L2):c.206C>G (p.Ala69Gly)	NFE2L2 (A53G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1169248	NM_006164.5(NFE2L2):c.46-4A>G	NFE2L2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign