C1275081[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 44806	NM_004333.6(BRAF):c.1460T>G (p.Val487Gly)	BRAF (V487G +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +3 more	GPathogenic/Likely pathogenic
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 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 13965	NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)	BRAF (A246P +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 29805	NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	BRAF (T241M +4 more)	Single nucleotide variant (missense variant)	RASopathy +9 more	GPathogenic/Likely pathogenic
Select item 29807	NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	BRAF (T241P +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +7 more	GPathogenic/Likely pathogenic
Select item 12587	NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	KRAS (D153V)	Single nucleotide variant (3 prime UTR variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12586	NM_004985.5(KRAS):c.178G>C (p.Gly60Arg)	KRAS (G60R)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 163768	NM_004985.5(KRAS):c.108A>G (p.Ile36Met)	KRAS (I36M)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 181500	NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)	PTPN11 (N298S +1 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +8 more	GConflicting classifications of pathogenicity
Select item 40813	NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)	MAP2K2 (E207K)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GLikely pathogenic FDA Recognized database
Select item 8274	NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)	MAP2K2 (Y134H)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenic FDA Recognized database