"Revvity Omics, Revvity"[submitter] AND "BRAF"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 280033	NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg)	BRAF (T599R +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 177672	NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu)	BRAF (F595L +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 13979	NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)	BRAF (N581D +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 29808	NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys)	BRAF (W531C +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 40373	NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala)	BRAF (E501A +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 40370	NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)	BRAF (L485S +7 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 691718	NM_004333.6(BRAF):c.1205C>A (p.Pro402His)	BRAF (P402H +5 more)	Single nucleotide variant (missense variant +1 more)	LEOPARD syndrome 3 +10 more	GUncertain significance
Select item 2439552	NM_004333.6(BRAF):c.1084C>T (p.Arg362Ter)	BRAF, LOC126860202 (R274* +4 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1091347	NM_004333.6(BRAF):c.915G>A (p.Ala305=)	BRAF	Single nucleotide variant (synonymous variant)	LEOPARD syndrome 3 +9 more	GConflicting classifications of pathogenicity
Select item 40338	NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2])	BRAF	Microsatellite (inframe_deletion)	RASopathy +5 more	GConflicting classifications of pathogenicity