"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40388	NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile)	BRAF (T599I +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 222077	NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro)	BRAF (L525P +7 more)	Single nucleotide variant (missense variant)	Noonan syndrome 7 +1 more	GPathogenic/Likely pathogenic
Select item 976167	NM_004333.6(BRAF):c.1475_1477del (p.Pro492del)	BRAF (P404del +7 more)	Deletion (inframe_deletion)	Cardiofaciocutaneous syndrome 1	GLikely pathogenic
Select item 1325840	NM_004333.6(BRAF):c.1454T>G (p.Leu485Trp)	BRAF (L397W +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1	GPathogenic
Select item 29805	NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	BRAF (T241M +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +9 more	GPathogenic/Likely pathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	ADCK2, AGBL3 +105 more	Copy number loss	Small face +7 more	GPathogenic

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