ClinVar for MedGen (Select 831192) - ClinVar - NCBI

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

Links from MedGen

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 998076	NM_002049.4(GATA1):c.219A>G (p.Pro73=)	GATA1	Single nucleotide variant (synonymous variant)	Acute megakaryoblastic leukemia in down syndrome	GPathogenic
Select item 998075	NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)	MFSD11, SRSF2 (P95R)	Single nucleotide variant (missense variant +2 more)	Acute megakaryoblastic leukemia in down syndrome	GLikely pathogenic
Select item 998074	NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe)	JAK1 (L782F +1 more)	Single nucleotide variant (missense variant)	Acute megakaryoblastic leukemia in down syndrome	GLikely pathogenic
Select item 998073	NM_002049.4(GATA1):c.159_171dup (p.Ala58fs)	GATA1 (A58fs)	Duplication (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome	GPathogenic
Select item 998072	NM_002049.4(GATA1):c.142_149dup (p.Ser51fs)	GATA1 (S51fs)	Duplication (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome	GPathogenic
Select item 998071	NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)	SUZ12 (L362fs +1 more)	Microsatellite (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome +1 more	GPathogenic/Likely pathogenic
Select item 998070	NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs)	CTCF (D219fs +1 more)	Indel (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome	GLikely pathogenic
Select item 998069	NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer)	GATA1	Insertion (nonsense)	Acute megakaryoblastic leukemia in down syndrome	GPathogenic
Select item 998068	NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs)	CTCF (Y174fs +1 more)	Duplication (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome	GLikely pathogenic
Select item 998067	NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter)	RAD21 (Y3*)	Single nucleotide variant (nonsense)	Acute megakaryoblastic leukemia in down syndrome	GLikely pathogenic
Select item 998066	NM_002049.4(GATA1):c.175_193dup (p.Asp65fs)	GATA1 (D65fs)	Duplication (frameshift variant)	Acute megakaryoblastic leukemia in down syndrome	GPathogenic
Select item 465134	NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)	GATA1 (S30*)	Single nucleotide variant (nonsense)	GATA binding protein 1 related thrombocytopenia with dyserythropoiesis +2 more	GPathogenic
Select item 13901	NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	NRAS (G13D)	Single nucleotide variant (missense variant)	Acute megakaryoblastic leukemia in down syndrome +3 more	GPathogenic/Likely pathogenic
Select item 13341	NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met)	PTPN11 (T411M +2 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database