"ITMI"[submitter] AND "MPL"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135563	NM_005373.3(MPL):c.79+2T>A	MPL	Single nucleotide variant (splice donor variant)	Primary myelofibrosis +6 more	GPathogenic/Likely pathogenic
Select item 14162	NM_005373.3(MPL):c.117G>T (p.Lys39Asn)	MPL (K39N)	Single nucleotide variant (missense variant)	Essential thrombocythemia +4 more	GBenign/Likely benign
Select item 134821	NM_005373.3(MPL):c.209C>T (p.Pro70Leu)	MPL (P70L)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GConflicting classifications of pathogenicity
Select item 134822	NM_005373.3(MPL):c.235_236del (p.Leu79fs)	MPL	Deletion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GPathogenic
Select item 134824	NM_005373.3(MPL):c.263G>A (p.Gly88Glu)	MPL (G88E)	Single nucleotide variant (missense variant)	Thrombocytopenia	GLikely pathogenic
Select item 14158	NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	MPL (R102P)	Single nucleotide variant (missense variant)	Primary myelofibrosis +5 more	GPathogenic
Select item 134825	NM_005373.3(MPL):c.340G>A (p.Val114Met)	MPL (V114M)	Single nucleotide variant (missense variant)	Essential thrombocythemia +3 more	GConflicting classifications of pathogenicity
Select item 265249	NM_005373.3(MPL):c.378del (p.Phe126fs)	MPL (F126fs)	Deletion (frameshift variant)	Essential thrombocythemia +2 more	GPathogenic
Select item 134826	NM_005373.3(MPL):c.530dup (p.Asn178fs)	MPL (N178fs)	Duplication (frameshift variant)	not specified	Gnot provided
Select item 134830	NM_005373.3(MPL):c.619G>A (p.Asp207Asn)	MPL (D207N)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 134828	NM_005373.3(MPL):c.622C>A (p.Gln208Lys)	MPL (Q208K)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 134829	NM_005373.3(MPL):c.655C>G (p.Gln219Glu)	MPL (Q219E)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GConflicting classifications of pathogenicity
Select item 134827	NM_005373.3(MPL):c.690A>G (p.Glu230=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GBenign
Select item 134833	NM_005373.3(MPL):c.733G>A (p.Gly245Arg)	MPL (G245R)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134831	NM_005373.3(MPL):c.744_747dup (p.Asn250fs)	MPL (N250fs)	Duplication (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 134834	NM_005373.3(MPL):c.754T>C (p.Tyr252His)	MPL (Y252H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 134832	NM_005373.3(MPL):c.793C>T (p.Leu265Phe)	MPL (L265F)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GBenign
Select item 134835	NM_005373.3(MPL):c.962G>A (p.Arg321Gln)	MPL (R321Q)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GBenign/Likely benign
Select item 134837	NM_005373.3(MPL):c.1063A>G (p.Lys355Glu)	MPL (K355E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 134839	NM_005373.3(MPL):c.1102G>T (p.Val368Leu)	MPL (V368L)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +3 more	GConflicting classifications of pathogenicity
Select item 134838	NM_005373.3(MPL):c.1120A>G (p.Thr374Ala)	MPL (T374A)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GBenign/Likely benign
Select item 134836	NM_005373.3(MPL):c.1120_1121delinsGG (p.Thr374Gly)	MPL (T374G)	Indel (missense variant)	not specified	Gnot provided
Select item 135564	NM_005373.3(MPL):c.1565+5C>T	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +5 more	GConflicting classifications of pathogenicity
Select item 134819	NM_005373.3(MPL):c.1621C>T (p.Gln541Ter)	MPL (Q541*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 134820	NM_005373.3(MPL):c.1745T>C (p.Leu582Pro)	MPL (L582P)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance

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Items: 25