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

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1294122	NC_000001.11:g.43337551G>A	MPL	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 135563	NM_005373.3(MPL):c.79+2T>A	MPL	Single nucleotide variant (splice donor variant)	not provided +7 more	GPathogenic/Likely pathogenic
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 1209581	NM_005373.3(MPL):c.185C>T (p.Thr62Ile)	MPL (T62I)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 1324730	NM_005373.3(MPL):c.212+1G>A	MPL	Single nucleotide variant (splice donor variant)	not provided +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 700548	NM_005373.3(MPL):c.273C>T (p.Tyr91=)	MPL	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 14158	NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	MPL (R102P)	Single nucleotide variant (missense variant)	not provided +6 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 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 265249	NM_005373.3(MPL):c.378del (p.Phe126fs)	MPL (F126fs)	Deletion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GPathogenic
Select item 372409	NM_005373.3(MPL):c.391+5G>C	MPL	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 259759	NM_005373.3(MPL):c.391+47C>T	MPL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1247874	NM_005373.3(MPL):c.392-274G>T	MPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302102	NM_005373.3(MPL):c.413T>C (p.Ile138Thr)	MPL (I138T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039970	NM_005373.3(MPL):c.517C>G (p.Pro173Ala)	MPL (P173A)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +3 more	GUncertain significance
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 1236138	NM_005373.3(MPL):c.691-178C>T	MPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1337670	NM_005373.3(MPL):c.775G>A (p.Glu259Lys)	MPL (E259K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
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 259760	NM_005373.3(MPL):c.981-41G>A	MPL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 297403	NM_005373.3(MPL):c.1051C>T (p.Arg351Cys)	MPL (R351C)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GUncertain significance
Select item 1222725	NM_005373.3(MPL):c.1309-61T>C	MPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233648	NM_005373.3(MPL):c.1309-28C>G	MPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259755	NM_005373.3(MPL):c.1309-10C>T	MPL	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1310315	NM_005373.3(MPL):c.1339G>C (p.Gly447Arg)	MPL (G447R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372410	NM_005373.3(MPL):c.1468+2T>C	MPL	Single nucleotide variant (splice donor variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GPathogenic/Likely pathogenic
Select item 1250463	NM_005373.3(MPL):c.1469-70T>C	MPL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3340285	NM_005373.3(MPL):c.1545G>A (p.Trp515Ter)	MPL (W515*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 1305529	NM_005373.3(MPL):c.1639G>A (p.Ala547Thr)	MPL (A547T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450671	NM_005373.3(MPL):c.1645C>G (p.Leu549Val)	MPL (L549V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 297410	NM_005373.3(MPL):c.1654-10T>A	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GConflicting classifications of pathogenicity
Select item 1287360	NC_000001.11:g.43354522G>A	MPL	Single nucleotide variant	not provided	GBenign

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Items: 36