ClinVar for MedGen (Select 14297) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685425	NM_002907.4(RECQL):c.502-2A>G	RECQL	Single nucleotide variant (splice acceptor variant)	Malignant neoplastic disease	GLikely pathogenic
Select item 977284	NM_004444.5(EPHB4):c.971C>A (p.Pro324His)	EPHB4 (P324H)	Single nucleotide variant (missense variant)	Malignant neoplastic disease	GUncertain significance
Select item 977283	NM_018557.3(LRP1B):c.9120+2T>C	LRP1B	Single nucleotide variant (splice donor variant)	Malignant neoplastic disease	GUncertain significance
Select item 16339	NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)	FGFR3 (S249C)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +17 more	GPathogenic OOncogenic
Select item 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	Vascular malformation +3 more	GPathogenic STier I - Strong
Select item 13336	NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)	PTPN11 (E76K +1 more)	Single nucleotide variant (missense variant)	PTPN11 Related Disorders +3 more	GConflicting classifications of pathogenicity

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