"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46223	NM_030662.3(MAP2K2):c.*8C>T	MAP2K2	Single nucleotide variant (3 prime UTR variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40847	NM_030662.4(MAP2K2):c.1198G>A (p.Val400Met)	MAP2K2 (V400M)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +3 more	GBenign/Likely benign
Select item 496472	NM_030662.4(MAP2K2):c.1176C>T (p.Pro392=)	MAP2K2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 50938	NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GLikely benign FDA Recognized database
Select item 1334256	NM_030662.4(MAP2K2):c.1106T>C (p.Ile369Thr)	MAP2K2 (I369T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 632883	NM_030662.4(MAP2K2):c.1092A>C (p.Thr364=)	MAP2K2	Single nucleotide variant (synonymous variant)	not specified +2 more	GUncertain significance
Select item 46226	NM_030662.4(MAP2K2):c.1020C>T (p.Pro340=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 138162	NM_030662.4(MAP2K2):c.1005C>T (p.Asn335=)	MAP2K2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 1334258	NM_030662.4(MAP2K2):c.951C>T (p.Ala317=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
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 1334259	NM_030662.4(MAP2K2):c.907C>T (p.Arg303Cys)	MAP2K2 (R303C)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 40832	NM_030662.4(MAP2K2):c.893C>T (p.Pro298Leu)	MAP2K2 (P298L)	Single nucleotide variant (missense variant)	RASopathy	GBenign FDA Recognized database
Select item 40827	NM_030662.4(MAP2K2):c.846C>T (p.Pro282=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 138159	NM_030662.4(MAP2K2):c.690G>A (p.Thr230=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 1334260	NM_030662.4(MAP2K2):c.627G>A (p.Lys209=)	MAP2K2	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 40811	NM_030662.4(MAP2K2):c.603C>T (p.Leu201=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40808	NM_030662.4(MAP2K2):c.580+6G>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GBenign FDA Recognized database
Select item 46239	NM_030662.4(MAP2K2):c.525C>T (p.Ile175=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40802	NM_030662.4(MAP2K2):c.498C>T (p.Pro166=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 701979	NM_030662.4(MAP2K2):c.450+9G>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy +1 more	GLikely benign
Select item 46235	NM_030662.4(MAP2K2):c.420C>T (p.Asp140=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40793	NM_030662.4(MAP2K2):c.405G>C (p.Gly135=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign 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
Select item 516162	NM_030662.4(MAP2K2):c.351C>G (p.Arg117=)	MAP2K2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 40787	NM_030662.4(MAP2K2):c.291C>A (p.Ile97=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 1334261	NM_030662.4(MAP2K2):c.284G>A (p.Gly95Asp)	MAP2K2 (G95D)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 1334262	NM_030662.4(MAP2K2):c.237C>T (p.Gly79=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
Select item 448953	NM_030662.4(MAP2K2):c.141C>T (p.Asp47=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 1334263	NM_030662.4(MAP2K2):c.102G>C (p.Leu34=)	MAP2K2	Single nucleotide variant (synonymous variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 179389	NM_030662.4(MAP2K2):c.93-6C>T	MAP2K2	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1165042	NM_030662.4(MAP2K2):c.93-15dup	MAP2K2	Duplication (intron variant)	Noonan syndrome and Noonan-related syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1334264	NM_030662.4(MAP2K2):c.85G>T (p.Ala29Ser)	LOC130063193, MAP2K2 (A29S)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 1334206	NM_030662.4(MAP2K2):c.-243C>T	MAP2K2	Single nucleotide variant (5 prime UTR variant)	Noonan syndrome and Noonan-related syndrome	GBenign

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Items: 34