"CEBPE-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 714668	NM_001805.4(CEBPE):c.842G>A (p.Ser281Asn)	CEBPE (S281N)	Single nucleotide variant (missense variant)	CEBPE-related condition +2 more	GConflicting classifications of pathogenicity
Select item 787006	NM_001805.4(CEBPE):c.828C>T (p.Gly276=)	CEBPE	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 461468	NM_001805.4(CEBPE):c.747C>T (p.Arg249=)	CEBPE	Single nucleotide variant (synonymous variant)	CEBPE-related condition +1 more	GBenign
Select item 1594290	NM_001805.4(CEBPE):c.711G>A (p.Leu237=)	CEBPE	Single nucleotide variant (synonymous variant)	CEBPE-related condition +1 more	GLikely benign
Select item 530670	NM_001805.4(CEBPE):c.463C>A (p.Leu155Met)	CEBPE (L155M)	Single nucleotide variant (missense variant)	Specific granule deficiency +2 more	GBenign/Likely benign
Select item 3030105	NM_001805.4(CEBPE):c.218G>T (p.Gly73Val)	CEBPE (G73V)	Single nucleotide variant (missense variant)	CEBPE-related condition	GUncertain significance
Select item 3061545	NM_001805.4(CEBPE):c.189G>C (p.Ala63=)	CEBPE	Single nucleotide variant (synonymous variant)	CEBPE-related condition	GLikely benign
Select item 1507832	NM_001805.4(CEBPE):c.145G>A (p.Gly49Arg)	CEBPE (G49R)	Single nucleotide variant (missense variant)	CEBPE-related condition +1 more	GUncertain significance
Select item 714332	NM_001805.4(CEBPE):c.81C>T (p.Pro27=)	CEBPE	Single nucleotide variant (synonymous variant)	CEBPE-related condition +1 more	GLikely benign
Select item 3048987	NM_001805.4(CEBPE):c.-4G>A	CEBPE	Single nucleotide variant (5 prime UTR variant)	CEBPE-related condition	GLikely benign