"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MAP2K2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 279960	NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)	MAP2K2 (T396M)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 40843	NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)	MAP2K2 (R388W)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 1334257	NM_030662.4(MAP2K2):c.969C>G (p.Asp323Glu)	MAP2K2 (D323E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 40839	NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln)	MAP2K2 (R313Q)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 40834	NM_030662.4(MAP2K2):c.919+4C>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GLikely benign FDA Recognized database
Select item 285121	NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln)	MAP2K2 (R297Q)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 180905	NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp)	MAP2K2 (R179W)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 1174505	NM_030662.4(MAP2K2):c.528G>A (p.Ala176=)	MAP2K2	Single nucleotide variant (synonymous variant)	Cardiofaciocutaneous syndrome 4 +1 more	GUncertain significance
Select item 378105	NM_030662.4(MAP2K2):c.450+17C>T	MAP2K2	Single nucleotide variant (intron variant)	RASopathy +3 more	GBenign/Likely benign
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
Select item 372943	NM_030662.4(MAP2K2):c.247G>A (p.Gly83Ser)	MAP2K2 (G83S)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4 +3 more	GUncertain significance
Select item 543971	NM_030662.4(MAP2K2):c.217G>A (p.Glu73Lys)	MAP2K2 (E73K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance