C5555857[trait identifier] AND "GenomeConnect, ClinGen"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 918029	NM_002880.4(RAF1):c.278C>T (p.Pro93Leu)	RAF1 (P93L)	Single nucleotide variant (intron variant +2 more)	RASopathy +1 more	GUncertain significance
Select item 40393	NM_004333.6(BRAF):c.1992+16G>C	BRAF	Single nucleotide variant (intron variant)	RASopathy +9 more	GBenign/Likely benign
Select item 40391	NM_004333.6(BRAF):c.1929A>G (p.Gly643=)	BRAF	Single nucleotide variant (synonymous variant)	RASopathy	GBenignFDA Recognized database
Select item 40431	NM_005343.4(HRAS):c.81T>C (p.His27=)	HRAS, LRRC56	Single nucleotide variant (synonymous variant +1 more)	RASopathy	GBenignFDA Recognized database
Select item 55796	NM_005188.4(CBL):c.1095+19G>T	CBL	Single nucleotide variant (intron variant)	Juvenile myelomonocytic leukemia +4 more	GBenign
Select item 180815	NM_005188.4(CBL):c.1096-1G>T	CBL	Single nucleotide variant (splice acceptor variant)	Noonan syndrome +3 more	GPathogenic
Select item 372611	NM_004985.5(KRAS):c.451-5588T>C	KRAS (I171T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 40835	NM_030662.4(MAP2K2):c.919+12A>G	MAP2K2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 40813	NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)	MAP2K2 (E207K)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GLikely pathogenicFDA Recognized database
Select item 46237	NM_030662.4(MAP2K2):c.453C>T (p.Asp151=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenignFDA Recognized database
Select item 209088	NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	LZTR1 (G248R)	Single nucleotide variant (missense variant)	RASopathy	GLikely pathogenicFDA Recognized database