ClinVar for MedGen (Select 1845022) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367097	NM_005373.3(MPL):c.391G>C (p.Gly131Arg)	MPL (G131R)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia 1	GLikely pathogenic
Select item 2445438	NM_005373.3(MPL):c.407C>G (p.Pro136Arg)	MPL (P136R)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely pathogenic
Select item 2445435	NM_005373.3(MPL):c.1589C>T (p.Pro530Leu)	MPL (P530L)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GConflicting classifications of pathogenicity
Select item 988820	NM_005373.3(MPL):c.712G>T (p.Gly238Cys)	MPL (G238C)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia 1 +2 more	GConflicting classifications of pathogenicity
Select item 644406	NM_005373.3(MPL):c.304C>T (p.Arg102Cys)	MPL (R102C)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GPathogenic
Select item 265248	NM_005373.3(MPL):c.317C>T (p.Pro106Leu)	MPL (P106L)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia 1 +5 more	GPathogenic/Likely pathogenic
Select item 135563	NM_005373.3(MPL):c.79+2T>A	MPL	Single nucleotide variant (splice donor variant)	Thrombocytopenia +7 more	GPathogenic/Likely pathogenic
Select item 14161	NM_005373.3(MPL):c.823C>A (p.Pro275Thr)	MPL (P275T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 14160	NM_005373.3(MPL):c.1566-1G>T	MPL	Single nucleotide variant (splice acceptor variant)	Congenital amegakaryocytic thrombocytopenia 1	GPathogenic
Select item 14159	NM_005373.3(MPL):c.1473G>A (p.Trp491Ter)	MPL (W491*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia 1	GPathogenic
Select item 14158	NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	MPL (R102P)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia 1 +6 more	GPathogenic
Select item 14157	NM_005373.3(MPL):c.1904C>T (p.Pro635Leu)	MPL (P635L)	Single nucleotide variant (missense variant)	Essential thrombocythemia +1 more	GPathogenic
Select item 14156	NM_005373.3(MPL):c.769C>T (p.Arg257Cys)	MPL (R257C)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GPathogenic/Likely pathogenic
Select item 14155	NM_005373.3(MPL):c.1499del (p.Leu500fs)	MPL (L500fs)	Deletion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia 1	GPathogenic
Select item 14154	NM_005373.3(MPL):c.556C>T (p.Gln186Ter)	MPL (Q186*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia	GPathogenic