ClinVar for MedGen (Select 1845022) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 265248	NM_005373.3(MPL):c.317C>T (p.Pro106Leu)	MPL (P106L)	Single nucleotide variant (missense variant)	MPL-related disorder +6 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 +5 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