C0001815[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 134822	NM_005373.3(MPL):c.235_236del (p.Leu79fs)	MPL	Deletion (frameshift variant)	Congenital amegakaryocytic thrombocytopenia +4 more	GPathogenic
Select item 14158	NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	MPL (R102P)	Single nucleotide variant (missense variant)	Primary myelofibrosis +5 more	GPathogenic
Select item 1336302	NM_005373.3(MPL):c.313T>C (p.Phe105Leu)	MPL (F105L)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
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 1301356	NM_005373.3(MPL):c.367C>T (p.Arg123Ter)	MPL (R123*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 1504060	NM_005373.3(MPL):c.460T>C (p.Trp154Arg)	MPL (W154R)	Single nucleotide variant (missense variant)	Essential thrombocythemia +4 more	GPathogenic/Likely pathogenic
Select item 134828	NM_005373.3(MPL):c.622C>A (p.Gln208Lys)	MPL (Q208K)	Single nucleotide variant (missense variant)	Congenital amegakaryocytic thrombocytopenia +5 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 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 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 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 1453832	NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)	MPL (W477*)	Single nucleotide variant (nonsense)	Congenital amegakaryocytic thrombocytopenia +3 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 632897	NM_005373.3(MPL):c.1653+1del	MPL	Deletion (splice donor variant)	Congenital amegakaryocytic thrombocytopenia +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 +4 more	GUncertain significance
Select item 134559	NM_004972.4(JAK2):c.380G>A (p.Gly127Asp)	INSL6, JAK2 (G127D)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GBenign/Likely benign
Select item 1028834	NM_004972.4(JAK2):c.1641+6T>C	INSL6, JAK2	Single nucleotide variant (intron variant)	Acquired polycythemia vera +7 more	GConflicting classifications of pathogenicity
Select item 14662	NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	INSL6, JAK2 (V617F +2 more)	Single nucleotide variant (missense variant +1 more)	Thrombocythemia 3 +6 more	GConflicting classifications of pathogenicity
Select item 134555	NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)	INSL6, JAK2 (R1063H +2 more)	Single nucleotide variant (missense variant +1 more)	JAK2-related disorder +8 more	GBenign/Likely benign
Select item 1265448	NM_005475.3(SH2B3):c.784T>C (p.Trp262Arg)	SH2B3 (W262R +1 more)	Single nucleotide variant (missense variant)	Primary familial polycythemia due to EPO receptor mutation +3 more	GBenign
Select item 501686	NM_005475.3(SH2B3):c.1198G>A (p.Glu400Lys)	SH2B3 (E198K +1 more)	Single nucleotide variant (missense variant)	Primary myelofibrosis +3 more	GUncertain significance
Select item 97006	NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)	CALR (L367fs)	Deletion (frameshift variant)	Thrombocythemia 1 +3 more	GPathogenic STier I - Strong OUncertain significance

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Items: 25