CN029449[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 13978	NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)	BRAF (E501G +7 more)	Single nucleotide variant (missense variant)	not provided +13 more	GPathogenic/Likely pathogenic
Select item 931305	NM_004333.6(BRAF):c.1146G>C (p.Leu382Phe)	BRAF (L294F +4 more)	Single nucleotide variant (missense variant +1 more)	Cardiofaciocutaneous syndrome 1	GUncertain significance
Select item 931893	NM_004333.6(BRAF):c.789_790del (p.Cys264fs)	BRAF (C230fs +4 more)	Deletion (frameshift variant)	Cardiofaciocutaneous syndrome 1	GUncertain significance
Select item 931837	NM_004333.6(BRAF):c.712-221T>C	BRAF	Single nucleotide variant (intron variant)	Cardiofaciocutaneous syndrome 1	GUncertain significance
Select item 930444	NM_004333.6(BRAF):c.67A>G (p.Met23Val)	BRAF (M23V)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1 +1 more	GUncertain significance

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