C1275081[trait identifier] AND "Service de Génétique Moléculaire, Hôpi - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 981606	NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)	RIT1 (D126N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	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)	LEOPARD syndrome 3 +9 more	GConflicting classifications of pathogenicity
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 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 40384	NM_004333.6(BRAF):c.1722C>G (p.His574Gln)	BRAF (H574Q +7 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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)	not provided +1 more	GPathogenic
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 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 666418	NM_002755.4(MAP2K1):c.137A>T (p.Gln46Leu)	MAP2K1 (Q46L)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GLikely pathogenic
Select item 44588	NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)	MAP2K1 (L92R)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GLikely pathogenic FDA Recognized database
Select item 666425	NM_030662.4(MAP2K2):c.811G>A (p.Asp271Asn)	MAP2K2 (D271N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 376176	NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp)	MAP2K2 (N126D)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 666424	NM_030662.4(MAP2K2):c.187_192del (p.Lys63_Val64del)	MAP2K2	Deletion (inframe_deletion)	Cardio-facio-cutaneous syndrome	GLikely pathogenic

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Items: 20