"Counsyl"[submitter] AND "MPL"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14162	NM_005373.3(MPL):c.117G>T (p.Lys39Asn)	MPL (K39N)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GBenign/Likely benign
Select item 371574	NM_005373.3(MPL):c.127C>T (p.Arg43Ter)	MPL (R43*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia +4 more	GPathogenic
Select item 134821	NM_005373.3(MPL):c.209C>T (p.Pro70Leu)	MPL (P70L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 211522	NM_005373.3(MPL):c.210G>A (p.Pro70=)	MPL	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 134825	NM_005373.3(MPL):c.340G>A (p.Val114Met)	MPL (V114M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
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 134832	NM_005373.3(MPL):c.793C>T (p.Leu265Phe)	MPL (L265F)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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)	Congenital amegakaryocytic thrombocytopenia +2 more	GConflicting classifications of pathogenicity
Select item 134839	NM_005373.3(MPL):c.1102G>T (p.Val368Leu)	MPL (V368L)	Single nucleotide variant (missense variant)	not specified +4 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 135564	NM_005373.3(MPL):c.1565+5C>T	MPL	Single nucleotide variant (intron variant)	Thrombocythemia 1 +4 more	GConflicting classifications of pathogenicity
Select item 297408	NM_005373.3(MPL):c.1570C>T (p.Leu524=)	MPL	Single nucleotide variant (synonymous variant)	Thrombocythemia 1 +5 more	GLikely benign
Select item 297411	NM_005373.3(MPL):c.1666G>T (p.Val556Phe)	MPL (V556F)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GConflicting classifications of pathogenicity