MPL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic
Select item 3062343	GRCh38/hg38 1p34.2(chr1:42278946-43598390)	LOC129930347, LOC129930348 +91 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 1294122	NC_000001.11:g.43337551G>A	MPL	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 875929	NM_005373.3(MPL):c.-13A>C	MPL	Single nucleotide variant (5 prime UTR variant)	Congenital amegakaryocytic thrombocytopenia	GUncertain significance
Select item 1528170	NM_005373.3(MPL):c.6C>T (p.Pro2=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2161938	NM_005373.3(MPL):c.9C>G (p.Ser3=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2926637	NM_005373.3(MPL):c.10T>C (p.Trp4Arg)	MPL (W4R)	Single nucleotide variant (missense variant)	Essential thrombocythemia +1 more	GUncertain significance
Select item 2938714	NM_005373.3(MPL):c.11G>A (p.Trp4Ter)	MPL (W4*)	Single nucleotide variant (nonsense)	Essential thrombocythemia +1 more	GPathogenic
Select item 1321317	NM_005373.3(MPL):c.12G>A (p.Trp4Ter)	MPL (W4*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia	GUncertain significance
Select item 1398004	NM_005373.3(MPL):c.22A>G (p.Met8Val)	MPL (M8V)	Single nucleotide variant (missense variant)	Essential thrombocythemia +1 more	GUncertain significance
Select item 1090337	NM_005373.3(MPL):c.27C>T (p.Val9=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 1568440	NM_005373.3(MPL):c.42C>T (p.Leu14=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 1724061	NM_005373.3(MPL):c.45_46insTATAAGAGACA (p.Ala16fs)	MPL (A16fs)	Insertion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia	GLikely pathogenic
Select item 876919	NM_005373.3(MPL):c.49C>T (p.Pro17Ser)	MPL (P17S)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia	GUncertain significance
Select item 1662063	NM_005373.3(MPL):c.51T>G (p.Pro17=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 1724165	NM_005373.3(MPL):c.56del (p.Asn19fs)	MPL (N19fs)	Deletion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia	GLikely pathogenic
Select item 2022399	NM_005373.3(MPL):c.57C>A (p.Asn19Lys)	MPL (N19K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1616091	NM_005373.3(MPL):c.69C>A (p.Val23=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2942728	NM_005373.3(MPL):c.79+1G>A	MPL	Single nucleotide variant (splice donor variant)	Essential thrombocythemia +1 more	GLikely pathogenic
Select item 1489422	NM_005373.3(MPL):c.79+1G>T	MPL	Single nucleotide variant (splice donor variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely pathogenic
Select item 135563	NM_005373.3(MPL):c.79+2T>A	MPL	Single nucleotide variant (splice donor variant)	Congenital amegakaryocytic thrombocytopenia +6 more	GPathogenic/Likely pathogenic
Select item 1146278	NM_005373.3(MPL):c.79+7T>C	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 1963957	NM_005373.3(MPL):c.79+8G>C	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2944617	NM_005373.3(MPL):c.79+9C>G	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2923777	NM_005373.3(MPL):c.79+9C>T	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2927314	NM_005373.3(MPL):c.79+10A>C	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2924699	NM_005373.3(MPL):c.79+15G>C	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2923788	NM_005373.3(MPL):c.79+15G>A	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2954448	NM_005373.3(MPL):c.79+16G>T	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2934984	NM_005373.3(MPL):c.79+17G>T	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2922670	NM_005373.3(MPL):c.79+17G>A	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2922016	NM_005373.3(MPL):c.79+18T>C	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 1932666	NM_005373.3(MPL):c.79+19G>A	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2949534	NM_005373.3(MPL):c.79+20G>A	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2932062	NM_005373.3(MPL):c.80-19C>T	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2024771	NM_005373.3(MPL):c.80-17C>T	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2922953	NM_005373.3(MPL):c.80-15C>T	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2936896	NM_005373.3(MPL):c.80-11C>A	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 1634464	NM_005373.3(MPL):c.80-9G>T	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 1107234	NM_005373.3(MPL):c.80-7T>C	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2945714	NM_005373.3(MPL):c.89T>A (p.Leu30Ter)	MPL (L30*)	Single nucleotide variant (nonsense)	Essential thrombocythemia +1 more	GPathogenic
Select item 2933685	NM_005373.3(MPL):c.89T>C (p.Leu30Ser)	MPL (L30S)	Single nucleotide variant (missense variant)	Essential thrombocythemia +1 more	GUncertain significance
Select item 240158	NM_005373.3(MPL):c.92T>C (p.Leu31Pro)	MPL (L31P)	Single nucleotide variant (missense variant)	Thrombocythemia 1 +1 more	GUncertain significance
Select item 1456793	NM_005373.3(MPL):c.94del (p.Ala32fs)	MPL (A32fs)	Deletion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2948259	NM_005373.3(MPL):c.94G>A (p.Ala32Thr)	MPL (A32T)	Single nucleotide variant (missense variant)	Essential thrombocythemia +1 more	GUncertain significance
Select item 297397	NM_005373.3(MPL):c.95C>T (p.Ala32Val)	MPL (A32V)	Single nucleotide variant (missense variant)	MPL-related disorder +2 more	GUncertain significance
Select item 2937006	NM_005373.3(MPL):c.96A>C (p.Ala32=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 1643730	NM_005373.3(MPL):c.96A>G (p.Ala32=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 983966	NM_005373.3(MPL):c.98C>A (p.Ser33Ter)	MPL (S33*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia	GLikely pathogenic
Select item 1562183	NM_005373.3(MPL):c.105A>G (p.Ser35=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 14162	NM_005373.3(MPL):c.117G>T (p.Lys39Asn)	MPL (K39N)	Single nucleotide variant (missense variant)	Essential thrombocythemia +4 more	GBenign/Likely benign
Select item 1133763	NM_005373.3(MPL):c.120T>C (p.Cys40=)	MPL	Single nucleotide variant (synonymous variant)	MPL-related disorder +2 more	GLikely benign
Select item 371574	NM_005373.3(MPL):c.127C>T (p.Arg43Ter)	MPL (R43*)	Single nucleotide variant (nonsense)	Essential thrombocythemia +3 more	GPathogenic
Select item 1695381	NM_005373.3(MPL):c.131C>T (p.Thr44Ile)	MPL (T44I)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GUncertain significance
Select item 2926664	NM_005373.3(MPL):c.136G>C (p.Glu46Gln)	MPL (E46Q)	Single nucleotide variant (missense variant)	Essential thrombocythemia +1 more	GUncertain significance
Select item 2069414	NM_005373.3(MPL):c.136G>A (p.Glu46Lys)	MPL (E46K)	Single nucleotide variant (missense variant)	Essential thrombocythemia +1 more	GUncertain significance
Select item 1012730	NM_005373.3(MPL):c.145A>G (p.Thr49Ala)	MPL (T49A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2935485	NM_005373.3(MPL):c.147T>C (p.Thr49=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 1726251	NM_005373.3(MPL):c.147_148insGTCTCTTATACACA (p.Cys50fs)	MPL (C50fs)	Insertion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia	GLikely pathogenic
Select item 2942402	NM_005373.3(MPL):c.150C>T (p.Cys50=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 3202296	NM_005373.3(MPL):c.154T>C (p.Trp52Arg)	MPL (W52R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1726937	NM_005373.3(MPL):c.155G>A (p.Trp52Ter)	MPL (W52*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia	GLikely pathogenic
Select item 2951765	NM_005373.3(MPL):c.159T>C (p.Asp53=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2197059	NM_005373.3(MPL):c.162G>A (p.Glu54=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
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 698009	NM_005373.3(MPL):c.174G>A (p.Ala58=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely 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 1457605	NM_005373.3(MPL):c.189C>G (p.Tyr63Ter)	MPL (Y63*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 917671	NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)	MPL (Y63*)	Single nucleotide variant (nonsense)	Essential thrombocythemia +2 more	GPathogenic/Likely pathogenic
Select item 1448576	NM_005373.3(MPL):c.190C>T (p.Gln64Ter)	MPL (Q64*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic
Select item 2939808	NM_005373.3(MPL):c.192G>A (p.Gln64=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 297398	NM_005373.3(MPL):c.196C>T (p.Leu66=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GConflicting classifications of pathogenicity
Select item 1110369	NM_005373.3(MPL):c.198G>A (p.Leu66=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2445433	NM_005373.3(MPL):c.205T>C (p.Tyr69His)	MPL (Y69H)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia	GPathogenic
Select item 1716169	NM_005373.3(MPL):c.206A>G (p.Tyr69Cys)	MPL (Y69C)	Single nucleotide variant (missense variant)	Essential thrombocythemia +1 more	GUncertain significance
Select item 2025217	NM_005373.3(MPL):c.209del (p.Pro70fs)	MPL (P70fs)	Deletion (frameshift variant)	Essential thrombocythemia +1 more	GPathogenic
Select item 1670950	NM_005373.3(MPL):c.207C>T (p.Tyr69=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 134821	NM_005373.3(MPL):c.209C>T (p.Pro70Leu)	MPL (P70L)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +2 more	GConflicting classifications of pathogenicity
Select item 211522	NM_005373.3(MPL):c.210G>A (p.Pro70=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GBenign/Likely benign
Select item 458371	NM_005373.3(MPL):c.212G>A (p.Arg71Gln)	MPL (R71Q)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +3 more	GUncertain significance
Select item 1324730	NM_005373.3(MPL):c.212+1G>A	MPL	Single nucleotide variant (splice donor variant)	Essential thrombocythemia +2 more	GConflicting classifications of pathogenicity
Select item 2927501	NM_005373.3(MPL):c.212+8C>T	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2922406	NM_005373.3(MPL):c.212+10G>A	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2937913	NM_005373.3(MPL):c.212+17G>A	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2923776	NM_005373.3(MPL):c.212+17G>T	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2922947	NM_005373.3(MPL):c.213-20G>C	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 1930677	NM_005373.3(MPL):c.213-12C>T	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 1453070	NM_005373.3(MPL):c.213-7C>T	MPL	Single nucleotide variant (intron variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 1607838	NM_005373.3(MPL):c.213-6C>T	MPL	Single nucleotide variant (intron variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2925291	NM_005373.3(MPL):c.213-1G>A	MPL	Single nucleotide variant (splice acceptor variant)	Essential thrombocythemia +1 more	GLikely pathogenic
Select item 983967	NM_005373.3(MPL):c.214G>T (p.Glu72Ter)	MPL (E72*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia +1 more	GPathogenic/Likely pathogenic
Select item 2932622	NM_005373.3(MPL):c.219G>A (p.Lys73=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2198013	NM_005373.3(MPL):c.224G>A (p.Arg75His)	MPL (R75H)	Single nucleotide variant (missense variant)	Essential thrombocythemia +1 more	GUncertain significance
Select item 1069872	NM_005373.3(MPL):c.230del (p.Cys77fs)	MPL (C77fs)	Deletion (frameshift variant)	Essential thrombocythemia +1 more	GPathogenic
Select item 728130	NM_005373.3(MPL):c.231C>T (p.Cys77=)	MPL	Single nucleotide variant (synonymous variant)	Congenital amegakaryocytic thrombocytopenia +1 more	GLikely benign
Select item 2952163	NM_005373.3(MPL):c.234C>G (p.Pro78=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 2933185	NM_005373.3(MPL):c.234C>T (p.Pro78=)	MPL	Single nucleotide variant (synonymous variant)	Essential thrombocythemia +1 more	GLikely benign
Select item 134822	NM_005373.3(MPL):c.235_236del (p.Leu79fs)	MPL	Deletion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GPathogenic

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