ClinVar (all) for Orgtrack (Select 506594) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 428794	NM_000551.4(VHL):c.583C>T (p.Gln195Ter)	LOC107303340, VHL (Q195* +1 more)	Single nucleotide variant (nonsense +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database
Select item 376363	NM_001111067.4(ACVR1):c.983G>T (p.Gly328Val)	ACVR1 (G328V)	Single nucleotide variant (missense variant)	Brainstem glioma +1 more	GLikely pathogenic STier II - Potential
Select item 223166	NM_000551.4(VHL):c.224TCT[1] (p.Phe76del)	VHL (F76del)	Microsatellite (inframe_deletion)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 43598	NM_000551.4(VHL):c.208G>A (p.Glu70Lys)	VHL (E70K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 16609	NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg)	EGFR (L858R +3 more)	Single nucleotide variant (missense variant)	gefitinib response - Efficacy +1 more	Gdrug response STier I - Strong
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)	not provided +5 more	GPathogenic/Likely pathogenic STier I - Strong OOncogenic
Select item 2216	NM_000551.4(VHL):c.500G>A (p.Arg167Gln)	LOC107303340, VHL (R167Q +1 more)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome	GPathogenic FDA Recognized database