ClinVar for MedGen (Select 10147) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 869413	t(3;9)(q13.31;p24.1)	JAK2, ZBTB20	Translocation	Eosinophilia +2 more	GLikely pathogenic
Select item 812892	NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys)	DNMT3A (Y512C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 376706	NM_004972.4(JAK2):c.1691G>T (p.Arg564Leu)	JAK2, INSL6 (R564L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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
Select item 376216	NM_000142.5(FGFR3):c.1657G>A (p.Val553Met)	FGFR3 (V553M +3 more)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 376166	NM_001288705.3(CSF1R):c.1711T>G (p.Tyr571Asp)	CSF1R (Y571D +1 more)	Single nucleotide variant (missense variant +1 more)	Myeloproliferative disorder +1 more	GLikely pathogenic
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 16342	NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)	FGFR3 (Y373C +1 more)	Single nucleotide variant (missense variant +2 more)	Thanatophoric dysplasia type 1 +1 more	GPathogenic
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 13810	NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)	CBL (R420Q)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +3 more	GPathogenic/Likely pathogenic