CEBPA[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 1187270	NM_004364.5(CEBPA):c.*302C>T	CEBPA	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1701959	NM_004364.5(CEBPA):c.*93T>G	CEBPA	Single nucleotide variant (3 prime UTR variant)	Acute myeloid leukemia	GUncertain significance
Select item 1701962	NM_004364.5(CEBPA):c.*87G>A	CEBPA	Single nucleotide variant (3 prime UTR variant)	Acute myeloid leukemia	GUncertain significance
Select item 1701957	NM_004364.5(CEBPA):c.*86C>T	CEBPA	Single nucleotide variant (3 prime UTR variant)	Acute myeloid leukemia	GUncertain significance
Select item 1701960	NM_004364.5(CEBPA):c.*31G>C	CEBPA	Single nucleotide variant (3 prime UTR variant)	Acute myeloid leukemia	GUncertain significance
Select item 640464	NC_000019.9:g.(?_33792234)_(33793330_?)dup	CEBPA, LOC130064183	Duplication	Acute myeloid leukemia	GUncertain significance
Select item 1701961	NM_004364.5(CEBPA):c.*6G>A	CEBPA	Single nucleotide variant (3 prime UTR variant)	Acute myeloid leukemia	GUncertain significance
Select item 1701956	NM_004364.5(CEBPA):c.*5C>T	CEBPA	Single nucleotide variant (3 prime UTR variant)	Acute myeloid leukemia	GUncertain significance
Select item 2142267	NM_004364.5(CEBPA):c.1069_*2del (p.Cys357fs)	CEBPA (C392fs +3 more)	Deletion (frameshift variant)	Acute myeloid leukemia	GUncertain significance
Select item 2833375	NM_004364.5(CEBPA):c.1074G>A (p.Ala358=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GUncertain significance
Select item 1120644	NM_004364.5(CEBPA):c.1074G>T (p.Ala358=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 1348150	NM_004364.5(CEBPA):c.1073C>G (p.Ala358Gly)	CEBPA (A239G +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 665878	NM_004364.5(CEBPA):c.1073C>T (p.Ala358Val)	CEBPA (A358V +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1946155	NM_004364.5(CEBPA):c.1071C>A (p.Cys357Ter)	CEBPA (C343* +3 more)	Single nucleotide variant (nonsense)	Acute myeloid leukemia	GUncertain significance
Select item 1138699	NM_004364.5(CEBPA):c.1071C>T (p.Cys357=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 947159	NM_004364.5(CEBPA):c.1071C>G (p.Cys357Trp)	CEBPA (C357W +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2915953	NM_004364.5(CEBPA):c.1070G>A (p.Cys357Tyr)	CEBPA (C357Y +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2873847	NM_004364.5(CEBPA):c.1069T>A (p.Cys357Ser)	CEBPA (C343S +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1470550	NM_004364.5(CEBPA):c.1066A>T (p.Asn356Tyr)	CEBPA (N356Y +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 864349	NM_004364.5(CEBPA):c.1064G>T (p.Gly355Val)	CEBPA (G236V +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 456668	NM_004364.5(CEBPA):c.1064G>A (p.Gly355Asp)	CEBPA (G355D +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2154334	NM_004364.5(CEBPA):c.1063G>A (p.Gly355Ser)	CEBPA (G355S +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1450479	NM_004364.5(CEBPA):c.1060A>C (p.Met354Leu)	CEBPA (M389L +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 408752	NM_004364.5(CEBPA):c.1060A>G (p.Met354Val)	CEBPA (M354V +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2157844	NM_004364.5(CEBPA):c.1059C>T (p.Ala353=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 958006	NM_004364.5(CEBPA):c.1057G>A (p.Ala353Thr)	CEBPA (A353T +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 408749	NM_004364.5(CEBPA):c.1055A>G (p.Lys352Arg)	CEBPA (K352R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1514874	NM_004364.5(CEBPA):c.1051G>C (p.Val351Leu)	CEBPA (V232L +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1900627	NM_004364.5(CEBPA):c.1050G>A (p.Leu350=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 1710952	NM_004364.5(CEBPA):c.1046_1048del (p.Ser349del)	CEBPA (S230del +3 more)	Deletion (inframe_deletion)	Acute myeloid leukemia	GUncertain significance
Select item 1623052	NM_004364.5(CEBPA):c.1048T>C (p.Leu350=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 2084312	NM_004364.5(CEBPA):c.1047C>T (p.Ser349=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 1993279	NM_004364.5(CEBPA):c.1045T>A (p.Ser349Thr)	CEBPA (S230T +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 408743	NM_004364.5(CEBPA):c.1045T>C (p.Ser349Pro)	CEBPA (S349P +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1957846	NM_004364.5(CEBPA):c.1044C>G (p.Ser348Arg)	CEBPA (S334R +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1701954	NM_004364.5(CEBPA):c.1043G>C (p.Ser348Thr)	CEBPA (S229T +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 415197	NM_004364.5(CEBPA):c.1041G>A (p.Glu347=)	CEBPA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1964011	NM_004364.5(CEBPA):c.1039G>C (p.Glu347Gln)	CEBPA (E347Q +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1701953	NM_004364.5(CEBPA):c.1039G>A (p.Glu347Lys)	CEBPA (E228K +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GPathogenic
Select item 988482	NM_004364.5(CEBPA):c.911_1038dup (p.Glu347delinsSerSerAlaThrTrpArgArgSerArgArgCysTrpSerTer)	CEBPA	Duplication (nonsense)	not provided	GPathogenic
Select item 948039	NM_004364.5(CEBPA):c.1037C>G (p.Pro346Arg)	CEBPA (P346R +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2862743	NM_004364.5(CEBPA):c.1035G>T (p.Leu345=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GUncertain significance
Select item 2765886	NM_004364.5(CEBPA):c.1035G>A (p.Leu345=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GUncertain significance
Select item 1625859	NM_004364.5(CEBPA):c.1032G>A (p.Gln344=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 846326	NM_004364.5(CEBPA):c.1028_1029delinsTT (p.Arg343Leu)	CEBPA (R343L +3 more)	Indel (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1039877	NM_004364.5(CEBPA):c.1028G>A (p.Arg343His)	CEBPA (R329H +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1388785	NM_004364.5(CEBPA):c.1027C>T (p.Arg343Cys)	CEBPA (R329C +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1004435	NM_004364.5(CEBPA):c.1025dup (p.Arg343fs)	CEBPA (R224fs +3 more)	Duplication (frameshift variant)	Acute myeloid leukemia	GUncertain significance
Select item 1014480	NM_004364.5(CEBPA):c.1024T>G (p.Phe342Val)	CEBPA (F223V +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 239918	NM_004364.5(CEBPA):c.1021A>G (p.Ile341Val)	CEBPA (I341V +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1110414	NM_004364.5(CEBPA):c.1020C>T (p.Gly340=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 701220	NM_004364.5(CEBPA):c.1020C>A (p.Gly340=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 1720922	NM_004364.5(CEBPA):c.1019G>C (p.Gly340Ala)	CEBPA (G221A +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 849028	NM_004364.5(CEBPA):c.1019G>A (p.Gly340Asp)	CEBPA (G340D +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 239917	NM_004364.5(CEBPA):c.1018G>A (p.Gly340Ser)	CEBPA (G340S +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 1112126	NM_004364.5(CEBPA):c.1017G>C (p.Arg339=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 2582063	NM_004364.5(CEBPA):c.1015C>T (p.Arg339Trp)	CEBPA (R220W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699389	NM_004364.5(CEBPA):c.1011G>C (p.Thr337=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GUncertain significance
Select item 835918	NM_004364.5(CEBPA):c.1010C>T (p.Thr337Met)	CEBPA (T218M +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 133885	NM_004364.5(CEBPA):c.1009A>T (p.Thr337Ser)	CEBPA (T337S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2738750	NM_004364.5(CEBPA):c.1008C>T (p.Asp336=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 1358942	NM_004364.5(CEBPA):c.1007A>G (p.Asp336Gly)	CEBPA (D336G +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2916816	NM_004364.5(CEBPA):c.1000G>T (p.Glu334Ter)	CEBPA (E334* +3 more)	Single nucleotide variant (nonsense)	Acute myeloid leukemia	GUncertain significance
Select item 580178	NM_004364.5(CEBPA):c.1000G>A (p.Glu334Lys)	CEBPA (E334K +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 576652	NM_004364.5(CEBPA):c.1000G>C (p.Glu334Gln)	CEBPA (E334Q +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2063619	NM_004364.5(CEBPA):c.999C>G (p.Arg333=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 2006387	NM_004364.5(CEBPA):c.997C>T (p.Arg333Cys)	CEBPA (R368C +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 17569	NM_004364.5(CEBPA):c.935_991dup (p.Gln312_Gln330dup)	CEBPA	Duplication (inframe_insertion)	Acute myeloid leukemia	GPathogenic
Select item 767513	NM_004364.5(CEBPA):c.990G>A (p.Gln330=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 456709	NM_004364.5(CEBPA):c.989A>C (p.Gln330Pro)	CEBPA (Q330P +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1136990	NM_004364.5(CEBPA):c.987A>G (p.Glu329=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 1038461	NM_004364.5(CEBPA):c.982_985del (p.Val328fs)	CEBPA (V328fs +3 more)	Deletion (frameshift variant)	Acute myeloid leukemia	GUncertain significance
Select item 574012	NM_004364.5(CEBPA):c.985G>A (p.Glu329Lys)	CEBPA (E329K +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 941826	NM_004364.5(CEBPA):c.983T>G (p.Val328Gly)	CEBPA (V209G +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2202450	NM_004364.5(CEBPA):c.982G>A (p.Val328Met)	CEBPA (V209M +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 951738	NM_004364.5(CEBPA):c.979C>T (p.Arg327Trp)	CEBPA (R313W +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 2141697	NM_004364.5(CEBPA):c.978G>A (p.Lys326=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 2661951	NM_004364.5(CEBPA):c.974G>T (p.Arg325Leu)	CEBPA (R206L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1035193	NM_004364.5(CEBPA):c.973C>A (p.Arg325Ser)	CEBPA (R206S +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3016387	NM_004364.5(CEBPA):c.972G>C (p.Leu324=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 1604693	NM_004364.5(CEBPA):c.970C>T (p.Leu324=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 1017039	NM_004364.5(CEBPA):c.968G>T (p.Arg323Leu)	CEBPA (R204L +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 3019681	NM_004364.5(CEBPA):c.967C>T (p.Arg323Cys)	CEBPA (R358C +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1569058	NM_004364.5(CEBPA):c.966C>T (p.Asp322=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 1046479	NM_004364.5(CEBPA):c.966C>A (p.Asp322Glu)	CEBPA (D322E +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1360845	NM_004364.5(CEBPA):c.964_965delinsAT (p.Asp322Ile)	CEBPA (D308I +3 more)	Indel (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1477623	NM_004364.5(CEBPA):c.964G>A (p.Asp322Asn)	CEBPA (D308N +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1142946	NM_004364.5(CEBPA):c.963T>C (p.Asn321=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 771789	NM_004364.5(CEBPA):c.960C>T (p.Asp320=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign
Select item 3241075	NM_004364.5(CEBPA):c.957T>G (p.Ser319Arg)	CEBPA (S200R +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1701952	NM_004364.5(CEBPA):c.956G>T (p.Ser319Ile)	CEBPA (S200I +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GLikely pathogenic
Select item 955474	NM_004364.5(CEBPA):c.955A>G (p.Ser319Gly)	CEBPA (S354G +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 526812	NM_004364.5(CEBPA):c.955A>C (p.Ser319Arg)	CEBPA (S319R +3 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia	GUncertain significance
Select item 1155276	NM_004364.5(CEBPA):c.954C>T (p.Thr318=)	CEBPA	Single nucleotide variant (synonymous variant)	Acute myeloid leukemia	GLikely benign

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