"GenomeConnect - CFC International"[submitter] AND "BRAF"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 162797	NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu)	BRAF (D638E +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +5 more	GPathogenic
Select item 44818	NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr)	BRAF (K601T +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic
Select item 40390	NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)	BRAF (K601I +7 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GPathogenic/Likely pathogenic
Select item 40387	NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)	BRAF (G596V +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 44810	NM_004333.6(BRAF):c.1720C>T (p.His574Tyr)	BRAF (H574Y +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	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 13976	NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)	BRAF (K499E +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1 +3 more	GPathogenic/Likely pathogenic
Select item 40369	NM_004333.6(BRAF):c.1447A>C (p.Lys483Gln)	BRAF (K483Q +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +1 more	GPathogenic/Likely pathogenic
Select item 599445	NM_004333.6(BRAF):c.1388_1408dup (p.Ile463_Gly469dup)	BRAF	Duplication (inframe_insertion)	RASopathy	GLikely pathogenic
Select item 13974	NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)	BRAF (G469E +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 13973	NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	BRAF (Q257R +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 180784	NM_004333.6(BRAF):c.739T>C (p.Phe247Leu)	BRAF (F247L +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GPathogenic FDA Recognized database
Select item 29807	NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	BRAF (T241P +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +7 more	GPathogenic/Likely pathogenic