ClinVar for MedGen (Select 477629) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048441	NM_005373.3(MPL):c.684T>A (p.Ser228Arg)	MPL (S228R)	Single nucleotide variant (missense variant)	Thrombocythemia 2 +1 more	GUncertain significance
Select item 2627079	NM_005373.3(MPL):c.1612G>C (p.Val538Leu)	MPL (V538L)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 2585010	NM_005373.3(MPL):c.1719G>C (p.Lys573Asn)	MPL (K573N)	Single nucleotide variant (missense variant)	Thrombocythemia 2	GUncertain significance
Select item 1504060	NM_005373.3(MPL):c.460T>C (p.Trp154Arg)	MPL (W154R)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GPathogenic/Likely pathogenic
Select item 1492963	NM_005373.3(MPL):c.1566-1G>A	MPL	Single nucleotide variant (splice acceptor variant)	Congenital amegakaryocytic thrombocytopenia +3 more	GLikely pathogenic
Select item 1453832	NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)	MPL (W477*)	Single nucleotide variant (nonsense)	Essential thrombocythemia +3 more	GPathogenic/Likely pathogenic
Select item 1336302	NM_005373.3(MPL):c.313T>C (p.Phe105Leu)	MPL (F105L)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1301356	NM_005373.3(MPL):c.367C>T (p.Arg123Ter)	MPL (R123*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 1032992	NM_005373.3(MPL):c.1169G>A (p.Arg390His)	MPL (R390H)	Single nucleotide variant (missense variant)	Primary myelofibrosis +2 more	GUncertain significance
Select item 973650	NM_005373.3(MPL):c.1610G>A (p.Arg537Gln)	MPL (R537Q)	Single nucleotide variant (missense variant)	Essential thrombocythemia +1 more	GUncertain significance
Select item 665962	NM_005373.3(MPL):c.981-1G>C	MPL	Single nucleotide variant (splice acceptor variant)	Congenital amegakaryocytic thrombocytopenia +3 more	GLikely pathogenic
Select item 632897	NM_005373.3(MPL):c.1653+1del	MPL	Deletion (splice donor variant)	Primary myelofibrosis +3 more	GPathogenic
Select item 582171	NM_005373.3(MPL):c.1805T>C (p.Met602Thr)	MPL (M602T)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +3 more	GUncertain significance
Select item 576320	NM_005373.3(MPL):c.1178C>T (p.Thr393Ile)	MPL (T393I)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +3 more	GUncertain significance
Select item 458371	NM_005373.3(MPL):c.212G>A (p.Arg71Gln)	MPL (R71Q)	Single nucleotide variant (missense variant)	Essential thrombocythemia +3 more	GUncertain significance
Select item 412015	NM_005373.3(MPL):c.173C>T (p.Ala58Val)	MPL (A58V)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +3 more	GConflicting classifications of pathogenicity
Select item 371574	NM_005373.3(MPL):c.127C>T (p.Arg43Ter)	MPL (R43*)	Single nucleotide variant (nonsense)	MPL-related disorder +4 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 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 134828	NM_005373.3(MPL):c.622C>A (p.Gln208Lys)	MPL (Q208K)	Single nucleotide variant (missense variant)	MPL-related disorder +5 more	GUncertain significance
Select item 134822	NM_005373.3(MPL):c.235_236del (p.Leu79fs)	MPL	Deletion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GPathogenic
Select item 14163	NM_005373.3(MPL):c.1514G>A (p.Ser505Asn)	MPL (S505N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 14158	NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	MPL (R102P)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia 1 +6 more	GPathogenic

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Items: 25