"Genetic Services Laboratory, University of Chicago"[submitter] AND "C - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 415197	NM_004364.5(CEBPA):c.1041G>A (p.Glu347=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia +2 more	GBenign/Likely benign
Select item 133885	NM_004364.5(CEBPA):c.1009A>T (p.Thr337Ser)	CEBPA (T337S +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +2 more	GUncertain significance
Select item 1338593	NM_004364.5(CEBPA):c.914A>C (p.Gln305Pro)	CEBPA (Q186P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 456703	NM_004364.5(CEBPA):c.789C>T (p.Leu263=)	CEBPA	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 434684	NM_004364.5(CEBPA):c.776C>T (p.Ala259Val)	CEBPA (A259V +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 415189	NM_004364.5(CEBPA):c.756G>T (p.Ala252=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia +2 more	GBenign/Likely benign
Select item 239927	NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser)	CEBPA (G242S +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +2 more	GUncertain significance
Select item 526802	NM_004364.5(CEBPA):c.715C>G (p.Pro239Ala)	CEBPA (P239A +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +2 more	GUncertain significance
Select item 415195	NM_004364.5(CEBPA):c.693C>G (p.Pro231=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia +2 more	GBenign/Likely benign
Select item 239926	NM_004364.5(CEBPA):c.667G>A (p.Gly223Ser)	CEBPA (G223S +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 660179	NM_004364.5(CEBPA):c.623T>C (p.Phe208Ser)	CEBPA (F208S +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 210652	NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4])	CEBPA	Microsatellite (inframe_insertion)	not specified +3 more	GBenign/Likely benign
Select item 408757	NM_004364.5(CEBPA):c.572ACCCGC[2] (p.191HP[2])	CEBPA	Microsatellite (inframe_deletion)	not provided +3 more	GUncertain significance
Select item 1337085	NM_004364.5(CEBPA):c.579C>T (p.His193=)	CEBPA	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 434687	NM_004364.5(CEBPA):c.576_577insTACCCG (p.Pro192_His193insTyrPro)	CEBPA	Insertion (inframe_insertion)	not specified +1 more	GUncertain significance
Select item 415192	NM_004364.5(CEBPA):c.576G>T (p.Pro192=)	CEBPA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 415193	NM_004364.5(CEBPA):c.561G>C (p.Pro187=)	CEBPA	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 526799	NM_004364.5(CEBPA):c.532C>G (p.Leu178Val)	CEBPA (L178V +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +2 more	GUncertain significance
Select item 239923	NM_004364.5(CEBPA):c.402G>A (p.Ala134=)	CEBPA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 408755	NM_004364.5(CEBPA):c.388G>A (p.Gly130Ser)	CEBPA (G130S +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 456683	NM_004364.5(CEBPA):c.385C>T (p.Pro129Ser)	CEBPA (P129S +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 526801	NM_004364.5(CEBPA):c.364G>C (p.Gly122Arg)	CEBPA (G122R +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 434688	NM_004364.5(CEBPA):c.332_339del (p.Ala111fs)	CEBPA (A111fs +2 more)	Deletion (5 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 434683	NM_004364.5(CEBPA):c.324C>T (p.Tyr108=)	CEBPA	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 456679	NM_004364.5(CEBPA):c.296GCG[4] (p.Gly103_Gly104del)	CEBPA	Microsatellite (inframe_deletion +1 more)	not provided +2 more	GUncertain significance
Select item 1338385	NM_004364.5(CEBPA):c.260_261dup (p.Gln88fs)	CEBPA (Q123fs +2 more)	Duplication (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 434685	NM_004364.5(CEBPA):c.246C>A (p.Phe82Leu)	CEBPA (F82L +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 434686	NM_004364.5(CEBPA):c.119dup (p.Gln41fs)	CEBPA (Q27fs +2 more)	Duplication (5 prime UTR variant +1 more)	Acute myeloid leukemia	GPathogenic
Select item 456685	NM_004364.5(CEBPA):c.41C>G (p.Pro14Arg)	CEBPA, LOC130064183 (P14R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 434682	NM_004364.5(CEBPA):c.27G>T (p.Ala9=)	CEBPA, LOC130064183	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 566536	NM_004364.5(CEBPA):c.10G>T (p.Ala4Ser)	CEBPA, LOC130064183 (A4S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance

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Items: 31