"Service de Génétique Moléculaire, Hôpital Robert Debré"[submitter] AN - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 561696	NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser)	BRAF (P731S +7 more)	Single nucleotide variant (missense variant +1 more)	Cardiofaciocutaneous syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 981546	NM_004333.6(BRAF):c.2161T>G (p.Leu721Val)	BRAF (L633V +7 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GUncertain significance
Select item 162795	NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)	BRAF (A712D +7 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome 7 +8 more	GPathogenic/Likely pathogenic
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 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 375944	NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu)	BRAF (D594E +7 more)	Single nucleotide variant (missense variant)	Melanoma +1 more	GPathogenic/Likely pathogenic
Select item 375946	NM_004333.6(BRAF):c.1781A>T (p.Asp594Val)	BRAF (D594V +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 981545	NM_004333.6(BRAF):c.1740T>C (p.Asn580=)	BRAF	Single nucleotide variant (synonymous variant)	Noonan syndrome	GUncertain significance
Select item 40384	NM_004333.6(BRAF):c.1722C>G (p.His574Gln)	BRAF (H574Q +7 more)	Single nucleotide variant (missense variant)	RASopathy +3 more	GConflicting classifications of pathogenicity
Select item 945231	NM_004333.6(BRAF):c.1699T>G (p.Leu567Val)	BRAF (L545V +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 239870	NM_004333.6(BRAF):c.1661T>C (p.Ile554Thr)	BRAF (I554T +7 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 40375	NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe)	BRAF (L505F +7 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
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 666413	NM_004333.6(BRAF):c.1495A>C (p.Lys499Gln)	BRAF (K499Q +1 more)	Single nucleotide variant (missense variant)	Costello syndrome	GUncertain significance
Select item 177844	NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)	BRAF (L485F +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 666412	NM_004333.6(BRAF):c.1448A>C (p.Lys483Thr)	BRAF (K483T +1 more)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 666410	NM_004333.6(BRAF):c.1406_1411del (p.Gly469_Thr470del)	BRAF	Deletion (inframe_deletion)	Cardio-facio-cutaneous syndrome	GLikely pathogenic
Select item 44804	NM_004333.6(BRAF):c.1409C>G (p.Thr470Arg)	BRAF (T470R +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 666411	NM_004333.6(BRAF):c.1408A>C (p.Thr470Pro)	BRAF (T470P +1 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GLikely pathogenic
Select item 40365	NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala)	BRAF (G464A +7 more)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 1	GLikely pathogenic
Select item 13964	NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)	BRAF (G464E +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 372572	NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg)	BRAF (G464R +7 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GPathogenic
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 424419	NM_004333.6(BRAF):c.977T>C (p.Ile326Thr)	BRAF (I326T +4 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 44832	NM_004333.6(BRAF):c.793G>C (p.Gly265Arg)	BRAF (G265R +4 more)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database
Select item 44831	NM_004333.6(BRAF):c.785A>C (p.Gln262Pro)	BRAF (Q262P +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +2 more	GPathogenic/Likely pathogenic
Select item 55793	NM_004333.6(BRAF):c.741T>G (p.Phe247Leu)	BRAF (F247L +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related 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 44830	NM_004333.6(BRAF):c.739T>G (p.Phe247Val)	BRAF (F247V +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GLikely pathogenic FDA Recognized database
Select item 666415	NM_004333.6(BRAF):c.101C>T (p.Ala34Val)	BRAF (A34V)	Single nucleotide variant (missense variant)	Noonan 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 666414	NM_004333.6(BRAF):c.89G>A (p.Gly30Asp)	BRAF (G30D)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
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

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Items: 33