ClinVar for Gene (Select 130064183) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378366	NM_004364.5(CEBPA):c.-9_-6del	CEBPA, LOC130064183 (N33fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3363697	NM_004364.5(CEBPA):c.-4C>G	CEBPA, LOC130064183	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3352608	NM_004364.5(CEBPA):c.-97G>T	CEBPA, LOC130064183	Single nucleotide variant (5 prime UTR variant +1 more)	CEBPA-related disorder	GLikely benign
Select item 3033167	NM_004364.5(CEBPA):c.-69C>A	CEBPA, LOC130064183	Single nucleotide variant (5 prime UTR variant +1 more)	CEBPA-related disorder	GLikely benign
Select item 3000853	NM_004364.5(CEBPA):c.8C>T (p.Ser3Leu)	CEBPA, LOC130064183 (S38L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2851337	NM_004364.5(CEBPA):c.44T>A (p.Met15Lys)	CEBPA, LOC130064183 (M15K +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Acute myeloid leukemia	GUncertain significance
Select item 2768835	NM_004364.5(CEBPA):c.41C>T (p.Pro14Leu)	CEBPA, LOC130064183 (P49L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2767496	NM_004364.5(CEBPA):c.46AGC[1] (p.Ser17del)	CEBPA, LOC130064183 (S17del +2 more)	Microsatellite (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 2636322	NM_004364.5(CEBPA):c.-1del	CEBPA, LOC130064183 (M36fs)	Deletion (5 prime UTR variant +1 more)	CEBPA-related disorder	GUncertain significance
Select item 2635075	NM_004364.5(CEBPA):c.-90C>T	CEBPA, LOC130064183 (R6*)	Single nucleotide variant (5 prime UTR variant +1 more)	CEBPA-related disorder	GUncertain significance
Select item 2446537	NM_004364.5(CEBPA):c.-1C>A	LOC130064183, CEBPA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2327081	NM_004364.5(CEBPA):c.19T>C (p.Tyr7His)	CEBPA, LOC130064183 (Y7H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2169671	NM_004364.5(CEBPA):c.33G>A (p.Pro11=)	CEBPA, LOC130064183	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GLikely benign
Select item 2155809	NM_004364.5(CEBPA):c.32C>A (p.Pro11Gln)	CEBPA, LOC130064183 (P11Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1972549	NM_004364.5(CEBPA):c.26C>T (p.Ala9Val)	CEBPA, LOC130064183 (A9V +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1664199	NM_004364.5(CEBPA):c.9G>C (p.Ser3=)	CEBPA, LOC130064183	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GLikely benign
Select item 1604577	NM_004364.5(CEBPA):c.42G>A (p.Pro14=)	CEBPA, LOC130064183	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GLikely benign
Select item 1584333	NM_004364.5(CEBPA):c.18C>T (p.Phe6=)	CEBPA, LOC130064183	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GLikely benign
Select item 1576528	NM_004364.5(CEBPA):c.9G>T (p.Ser3=)	CEBPA, LOC130064183	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GLikely benign
Select item 1473681	NM_004364.5(CEBPA):c.49A>G (p.Ser17Gly)	CEBPA, LOC130064183 (S17G +2 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1442964	NM_004364.5(CEBPA):c.13G>C (p.Asp5His)	CEBPA, LOC130064183 (D40H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1440903	NM_004364.5(CEBPA):c.26C>A (p.Ala9Glu)	CEBPA, LOC130064183 (A9E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1396087	NM_004364.5(CEBPA):c.37C>A (p.Pro13Thr)	CEBPA, LOC130064183 (P48T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 1394560	NM_004364.5(CEBPA):c.43A>G (p.Met15Val)	CEBPA, LOC130064183 (M15V +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Acute myeloid leukemia	GUncertain significance
Select item 1374222	NM_004364.5(CEBPA):c.38C>G (p.Pro13Arg)	CEBPA, LOC130064183 (P13R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1296916	NM_004364.5(CEBPA):c.-110C>T	CEBPA, LOC130064183	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1133482	NM_004364.5(CEBPA):c.36G>A (p.Arg12=)	CEBPA, LOC130064183	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GLikely benign
Select item 1132089	NM_004364.5(CEBPA):c.24G>A (p.Glu8=)	CEBPA, LOC130064183	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GLikely benign
Select item 1060112	NM_004364.5(CEBPA):c.6G>C (p.Glu2Asp)	CEBPA, LOC130064183 (E2D +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1016935	NM_004364.5(CEBPA):c.45G>A (p.Met15Ile)	CEBPA, LOC130064183 (M15I +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Acute myeloid leukemia	GUncertain significance
Select item 988488	NM_004364.5(CEBPA):c.33_67delinsTTCCTAACCCT (p.Arg12_Pro23delinsSerTer)	CEBPA, LOC130064183	Indel (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 947310	NM_004364.5(CEBPA):c.32C>G (p.Pro11Arg)	CEBPA, LOC130064183 (P11R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 943532	NM_004364.5(CEBPA):c.37C>T (p.Pro13Ser)	CEBPA, LOC130064183 (P13S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 938986	NM_004364.5(CEBPA):c.31C>A (p.Pro11Thr)	CEBPA, LOC130064183 (P11T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 841302	NM_004364.5(CEBPA):c.32C>T (p.Pro11Leu)	CEBPA, LOC130064183 (P11L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 841129	NM_004364.5(CEBPA):c.43A>C (p.Met15Leu)	CEBPA, LOC130064183 (M15L +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 702430	NM_004364.5(CEBPA):c.39C>T (p.Pro13=)	CEBPA, LOC130064183	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 698142	NM_004364.5(CEBPA):c.39C>G (p.Pro13=)	CEBPA, LOC130064183	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 664877	NM_004364.5(CEBPA):c.41C>A (p.Pro14Gln)	CEBPA, LOC130064183 (P14Q +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia +1 more	GUncertain significance
Select item 662745	NM_004364.5(CEBPA):c.16T>A (p.Phe6Ile)	CEBPA, LOC130064183 (F41I +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 650614	NM_004364.5(CEBPA):c.44T>C (p.Met15Thr)	CEBPA, LOC130064183 (M1T +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Acute myeloid leukemia	GUncertain significance
Select item 647973	NM_004364.5(CEBPA):c.22G>A (p.Glu8Lys)	CEBPA, LOC130064183 (E43K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	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 625913	NM_004364.5(CEBPA):c.-39C>A	CEBPA, LOC130064183 (R23S)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
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
Select item 526818	NM_004364.5(CEBPA):c.37C>G (p.Pro13Ala)	CEBPA, LOC130064183 (P13A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 526809	NM_004364.5(CEBPA):c.28G>A (p.Glu10Lys)	CEBPA, LOC130064183 (E10K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 526803	NM_004364.5(CEBPA):c.31C>T (p.Pro11Ser)	CEBPA, LOC130064183 (P11S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 456685	NM_004364.5(CEBPA):c.41C>G (p.Pro14Arg)	CEBPA, LOC130064183 (P14R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 456684	NM_004364.5(CEBPA):c.40C>G (p.Pro14Ala)	CEBPA, LOC130064183 (P14A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 456676	NM_004364.5(CEBPA):c.27G>A (p.Ala9=)	CEBPA, LOC130064183	Single nucleotide variant (5 prime UTR variant +1 more)	Acute myeloid leukemia	GLikely benign
Select item 456671	NM_004364.5(CEBPA):c.14A>C (p.Asp5Ala)	CEBPA, LOC130064183 (D5A +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 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 426379	NM_004364.5(CEBPA):c.-36C>T	CEBPA, LOC130064183 (R24*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 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 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
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

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Links from Gene

Items: 60