"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40399	NM_004333.6(BRAF):c.2235A>G (p.Leu745=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 377569	NM_004333.6(BRAF):c.2128-4G>T	BRAF	Single nucleotide variant (intron variant)	RASopathy +3 more	GBenign/Likely benign
Select item 44820	NM_004333.6(BRAF):c.2128-5dup	BRAF	Duplication (intron variant)	Cardio-facio-cutaneous syndrome +5 more	GConflicting classifications of pathogenicity
Select item 44821	NM_004333.6(BRAF):c.2128-5del	BRAF	Deletion (intron variant)	RASopathy +5 more	GBenign/Likely benign
Select item 928807	NM_004333.6(BRAF):c.2128-16_2128-7del	BRAF	Deletion (intron variant)	RASopathy +3 more	GBenign/Likely benign
Select item 1334201	NM_004333.6(BRAF):c.2128-10_2128-9insC	BRAF	Insertion (intron variant)	RASopathy +8 more	GBenign/Likely benign
Select item 477686	NM_004333.6(BRAF):c.2127+7A>G	BRAF	Single nucleotide variant (intron variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 928805	NM_004333.6(BRAF):c.1992+8T>C	BRAF	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 13969	NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	BRAF (L597V +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +5 more	GPathogenic
Select item 44814	NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys)	BRAF (G596C +7 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 180781	NM_004333.6(BRAF):c.1742-10T>G	BRAF	Single nucleotide variant (intron variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 40383	NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu)	BRAF (D565E +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +2 more	GPathogenic/Likely pathogenic
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 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 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 177775	NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg)	BRAF (G469R +7 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +1 more	GPathogenic/Likely pathogenic
Select item 40366	NM_004333.6(BRAF):c.1403T>C (p.Phe468Ser)	BRAF (F468S +7 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 40364	NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)	BRAF (G464V +7 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +4 more	GPathogenic/Likely pathogenic
Select item 40363	NM_004333.6(BRAF):c.1383A>G (p.Gln461=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40362	NM_004333.6(BRAF):c.1332G>A (p.Arg444=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40360	NM_004333.6(BRAF):c.1227A>G (p.Ser409=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 1334218	NM_004333.6(BRAF):c.1218A>C (p.Leu406Phe)	BRAF (L318F +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 691718	NM_004333.6(BRAF):c.1205C>A (p.Pro402His)	BRAF (P402H +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy +10 more	GUncertain significance
Select item 44796	NM_004333.6(BRAF):c.1203C>T (p.Thr401=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 279952	NM_004333.6(BRAF):c.1189G>T (p.Gly397Cys)	BRAF (G397C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 633086	NM_004333.6(BRAF):c.1178-10A>G	BRAF	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1334219	NM_004333.6(BRAF):c.1177G>A (p.Gly393Arg)	BRAF (A393T +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 372627	NM_004333.6(BRAF):c.1166G>A (p.Arg389His)	BRAF (R389H +4 more)	Single nucleotide variant (missense variant +1 more)	Lung carcinoma +7 more	GUncertain significance
Select item 448924	NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly)	BRAF (R384G +4 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 44794	NM_004333.6(BRAF):c.1084C>A (p.Arg362=)	BRAF, LOC126860202	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 44788	NM_004333.6(BRAF):c.1068A>G (p.Gln356=)	BRAF, LOC126860202	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 1334220	NM_004333.6(BRAF):c.980+10G>A	BRAF	Single nucleotide variant (intron variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 44834	NM_004333.6(BRAF):c.968C>T (p.Ser323Leu)	BRAF (S323L +4 more)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 792091	NM_004333.6(BRAF):c.957C>T (p.Ser319=)	BRAF	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome +2 more	GLikely benign
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 451504	NM_004333.6(BRAF):c.755G>C (p.Arg252Pro)	BRAF (R252P +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 44827	NM_004333.6(BRAF):c.708C>T (p.Asn236=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 178963	NM_004333.6(BRAF):c.622A>G (p.Ile208Val)	BRAF (I208V +4 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 44825	NM_004333.6(BRAF):c.375T>G (p.Ser125=)	BRAF	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenign FDA Recognized database
Select item 1334200	NM_004333.6(BRAF):c.96CGC[4] (p.Ala34_Ala35dup)	BRAF	Microsatellite (inframe_insertion)	Noonan syndrome and Noonan-related syndrome	GLikely benign
Select item 41448	NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4])	BRAF	Microsatellite (inframe_insertion)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1334221	NM_004333.6(BRAF):c.98C>T (p.Ala33Val)	BRAF (A33V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44833	NM_004333.6(BRAF):c.92C>G (p.Ala31Gly)	BRAF (A31G)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40337	NM_004333.6(BRAF):c.78G>T (p.Glu26Asp)	BRAF (E26D)	Single nucleotide variant (missense variant)	LEOPARD syndrome 3 +7 more	GBenign/Likely benign
Select item 40335	NM_004333.6(BRAF):c.64G>A (p.Asp22Asn)	BRAF (D22N)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 1334222	NM_004333.6(BRAF):c.63G>A (p.Gly21=)	BRAF	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome +2 more	GConflicting classifications of pathogenicity
Select item 40333	NM_004333.6(BRAF):c.36G>A (p.Ala12=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 136536	NM_004333.6(BRAF):c.-5A>G	BRAF	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GBenign/Likely benign

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Items: 48