CN029449[trait identifier] AND "Mendelics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802372	NM_004333.6(BRAF):c.2276G>A (p.Gly759Glu)	BRAF (G799E +1 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1	GLikely pathogenic
Select item 802373	NM_004333.6(BRAF):c.2134G>A (p.Ala712Thr)	BRAF (A752T +1 more)	Single nucleotide variant (missense variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 202193	NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)	BRAF (F595L +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +3 more	GPathogenic/Likely pathogenic
Select item 802374	NM_004333.6(BRAF):c.1750C>T (p.Leu584Phe)	BRAF (L624F +1 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 802375	NM_004333.6(BRAF):c.1310G>A (p.Arg437Gln)	BRAF (R477Q +1 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 802376	NM_004333.6(BRAF):c.779G>A (p.Arg260His)	BRAF (R260H)	Single nucleotide variant (missense variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
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 802377	NM_004333.6(BRAF):c.644C>T (p.Ser215Phe)	BRAF (S215F)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1	GLikely pathogenic