ClinVar for MedGen (Select 45996) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064508	NM_004972.4(JAK2):c.1619_1627del (p.Ile540_Glu543delinsLys)	INSL6, JAK2	Deletion (inframe_indel +1 more)	Acquired polycythemia vera	GUncertain significance
Select item 1251934	NM_004972.4(JAK2):c.1694G>C (p.Arg565Thr)	INSL6, JAK2 (R160T +2 more)	Single nucleotide variant (missense variant +1 more)	Acquired polycythemia vera	GUncertain significance
Select item 1174013	Single allele	ATM	Deletion	Neoplasm of ovary +2 more	GPathogenic
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 585092	NM_004972.4(JAK2):c.2571+5A>C	INSL6, JAK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 376030	NM_002227.4(JAK1):c.1972G>T (p.Val658Phe)	LOC126805749, JAK1 (V658F +1 more)	Single nucleotide variant (missense variant)	Acquired polycythemia vera +3 more	GLikely pathogenic
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 134555	NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)	INSL6, JAK2 (R1063H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GBenign/Likely benign
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