"Database of Curated Mutations (DoCM)"[submitter] AND "JAK2"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 376706	NM_004972.4(JAK2):c.1691G>T (p.Arg564Leu)	INSL6, JAK2 (R564L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 14662	NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	INSL6, JAK2 (V617F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 375951	NM_004972.4(JAK2):c.2047A>G (p.Arg683Gly)	INSL6, JAK2 (R683G +2 more)	Single nucleotide variant (missense variant +1 more)	Myeloproliferative disorder +1 more	GPathogenic/Likely pathogenic
Select item 375952	NM_004972.4(JAK2):c.2048G>C (p.Arg683Thr)	INSL6, JAK2 (R683T +2 more)	Single nucleotide variant (missense variant +1 more)	Lymphoblastic leukemia, acute, with lymphomatous features	GPathogenic
Select item 375954	NM_004972.4(JAK2):c.2049A>T (p.Arg683Ser)	INSL6, JAK2 (R683S +2 more)	Single nucleotide variant (missense variant +1 more)	Lymphoblastic leukemia, acute, with lymphomatous features	GPathogenic
Select item 375953	NM_004972.4(JAK2):c.2049A>C (p.Arg683Ser)	INSL6, JAK2 (R683S +2 more)	Single nucleotide variant (missense variant +1 more)	Lymphoblastic leukemia, acute, with lymphomatous features	GPathogenic
Select item 376705	NM_004972.4(JAK2):c.2624C>A (p.Thr875Asn)	INSL6, JAK2 (T875N +2 more)	Single nucleotide variant (missense variant +1 more)	Myeloproliferative disorder	GLikely pathogenic