C0023467[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 404068	NM_032638.5(GATA2):c.1367C>T (p.Pro456Leu)	GATA2 (P456L +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +5 more	GUncertain significance
Select item 404078	NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr)	GATA2 (S429T +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 472441	NM_032638.5(GATA2):c.1274C>T (p.Ser425Leu)	GATA2 (S425L +1 more)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +6 more	GUncertain significance
Select item 29709	NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp)	GATA2 (R398W +1 more)	Single nucleotide variant (missense variant)	Leukemia, acute myeloid, susceptibility to +5 more	GPathogenic
Select item 472431	NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)	GATA2 (R361C +1 more)	Single nucleotide variant (missense variant)	Deafness-lymphedema-leukemia syndrome +5 more	GPathogenic/Likely pathogenic
Select item 539721	NM_032638.5(GATA2):c.1020G>A (p.Ser340=)	GATA2	Single nucleotide variant (synonymous variant +1 more)	GATA2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 435283	NM_032638.5(GATA2):c.829A>G (p.Ser277Gly)	GATA2 (S277G)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 343139	NM_032638.5(GATA2):c.710G>A (p.Gly237Asp)	GATA2 (G237D)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 539720	NM_032638.5(GATA2):c.706A>G (p.Met236Val)	GATA2 (M236V)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +4 more	GConflicting classifications of pathogenicity
Select item 404080	NM_032638.5(GATA2):c.445G>A (p.Gly149Arg)	GATA2 (G149R)	Single nucleotide variant (missense variant)	GATA2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 472455	NM_032638.5(GATA2):c.30G>T (p.Trp10Cys)	GATA2 (W10C)	Single nucleotide variant (missense variant)	Monocytopenia with susceptibility to infections +5 more	GUncertain significance
Select item 237252	NM_000222.3(KIT):c.200C>G (p.Thr67Ser)	KIT (T67S)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +8 more	GConflicting classifications of pathogenicity
Select item 242235	NM_198253.3(TERT):c.2991G>A (p.Val997=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +6 more	GConflicting classifications of pathogenicity
Select item 242229	NM_198253.3(TERT):c.2769G>A (p.Pro923=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +5 more	GConflicting classifications of pathogenicity
Select item 263107	NM_198253.3(TERT):c.2517G>A (p.Thr839=)	TERT	Single nucleotide variant (synonymous variant +1 more)	not provided +7 more	GBenign/Likely benign
Select item 446374	NM_198253.3(TERT):c.2287-5G>A	TERT	Single nucleotide variant (intron variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 416292	NM_198253.3(TERT):c.1932G>A (p.Thr644=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +10 more	GLikely benign
Select item 916675	NM_198253.3(TERT):c.1891C>T (p.Arg631Trp)	TERT (R631W)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +4 more	GPathogenic/Likely pathogenic
Select item 436979	NM_198253.3(TERT):c.1884C>T (p.Asp628=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Acute myeloid leukemia +4 more	GBenign/Likely benign
Select item 263104	NM_198253.3(TERT):c.1849C>T (p.Leu617=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +7 more	GConflicting classifications of pathogenicity
Select item 416316	NM_198253.3(TERT):c.1836C>G (p.Ala612=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +5 more	GLikely benign
Select item 212399	NM_198253.3(TERT):c.1620C>G (p.Ile540Met)	TERT (I540M)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia	GLikely pathogenic
Select item 228005	NM_198253.3(TERT):c.1574-7G>A	TERT	Single nucleotide variant (intron variant)	not provided +10 more	GBenign/Likely benign
Select item 242217	NM_198253.3(TERT):c.1392C>T (p.Phe464=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Idiopathic Pulmonary Fibrosis +7 more	GBenign/Likely benign
Select item 212398	NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)	TERT (E441del)	Microsatellite (inframe_deletion +1 more)	Dyskeratosis congenita +11 more	GConflicting classifications of pathogenicity
Select item 565378	NM_198253.3(TERT):c.1304T>A (p.Val435Glu)	TERT (V435E)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +10 more	GUncertain significance
Select item 12730	NM_198253.3(TERT):c.1234C>T (p.His412Tyr)	TERT (H412Y)	Single nucleotide variant (missense variant +1 more)	Aplastic anemia +8 more	GConflicting classifications of pathogenicity
Select item 410678	NM_198253.3(TERT):c.1108C>T (p.Pro370Ser)	TERT (P370S)	Single nucleotide variant (missense variant +1 more)	not specified +9 more	GUncertain significance
Select item 165380	NM_198253.3(TERT):c.969G>A (p.Pro323=)	TERT	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +5 more	GBenign/Likely benign
Select item 268080	NM_198253.3(TERT):c.887A>C (p.His296Pro)	TERT (H296P)	Single nucleotide variant (missense variant +1 more)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 +9 more	GConflicting classifications of pathogenicity
Select item 471904	NM_198253.3(TERT):c.838G>A (p.Glu280Lys)	TERT (E280K)	Single nucleotide variant (missense variant +1 more)	Acute myeloid leukemia +6 more	GConflicting classifications of pathogenicity
Select item 350804	NM_198253.3(TERT):c.572G>C (p.Ser191Thr)	TERT (S191T)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 1336204	NM_002520.7(NPM1):c.543T>C (p.Phe181=)	NPM1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 159328	NM_022455.5(NSD1):c.4378+1G>A	NSD1	Single nucleotide variant (splice donor variant)	Sotos syndrome +1 more	GPathogenic/Likely pathogenic
Select item 159391	NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter)	NSD1 (Q1989* +5 more)	Single nucleotide variant (nonsense)	Sotos syndrome +1 more	GPathogenic
Select item 210843	NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)	DDX41	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 978209	NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)	DDX41 (Q48*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 134555	NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)	INSL6, JAK2 (R1063H +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder +8 more	GBenign/Likely benign
Select item 162222	NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)	ETV6	Single nucleotide variant (missense variant)	Thrombocytopenia 5 +1 more	GPathogenic/Likely pathogenic
Select item 14716	NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)	IDH2 (R140Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 12366	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53 (R273H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
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 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 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 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
Select item 436599	NM_001283009.2(RTEL1):c.1135+1G>A	RTEL1, RTEL1-TNFRSF6B	Single nucleotide variant (splice donor variant)	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 +2 more	GPathogenic/Likely pathogenic
Select item 561227	NM_001754.5(RUNX1):c.1338C>T (p.Leu446=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 239042	NM_001754.5(RUNX1):c.1269C>T (p.Arg423=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 415828	NM_001754.5(RUNX1):c.1086G>C (p.Ser362=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 239039	NM_001754.5(RUNX1):c.1005G>T (p.Gln335His)	RUNX1 (Q335H +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GBenign FDA Recognized database
Select item 239055	NM_001754.5(RUNX1):c.749G>A (p.Arg250His)	RUNX1 (R250H +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 436614	NM_001754.5(RUNX1):c.649G>A (p.Gly217Arg)	RUNX1 (G217R +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 376018	NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter)	RUNX1-AS1, RUNX1 (R201* +1 more)	Single nucleotide variant (nonsense)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GPathogenic FDA Recognized database
Select item 239049	NM_001754.5(RUNX1):c.492C>T (p.Val164=)	RUNX1-AS1, RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GLikely benign FDA Recognized database
Select item 239047	NM_001754.5(RUNX1):c.303G>T (p.Val101=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 212088	NM_001754.5(RUNX1):c.183G>A (p.Pro61=)	RUNX1	Single nucleotide variant (synonymous variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GBenign FDA Recognized database
Select item 858424	NM_001754.5(RUNX1):c.146C>T (p.Pro49Leu)	RUNX1 (P22L +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematologic cancer predisposition syndrome	GUncertain significance FDA Recognized database
Select item 409814	NM_001754.5(RUNX1):c.56G>A (p.Arg19Lys)	RUNX1 (R19K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance

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Items: 82