ClinVar for MedGen (Select 815337) - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061850	NM_030662.4(MAP2K2):c.404G>T (p.Gly135Val)	MAP2K2 (G135V)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4	GLikely pathogenic
Select item 2920917	NM_030662.4(MAP2K2):c.650G>C (p.Gly217Ala)	MAP2K2 (G217A)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4	GUncertain significance
Select item 2663991	NM_030662.4(MAP2K2):c.903dup (p.Gly302fs)	MAP2K2 (G302fs)	Duplication (frameshift variant)	Cardiofaciocutaneous syndrome 4 +1 more	GUncertain significance
Select item 2548628	NM_030662.4(MAP2K2):c.1198G>T (p.Val400Leu)	MAP2K2 (V400L)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4 +1 more	GConflicting classifications of pathogenicity
Select item 2444198	NM_030662.4(MAP2K2):c.167C>A (p.Ala56Asp)	MAP2K2 (A56D)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4	GLikely pathogenic
Select item 1757301	NM_030662.4(MAP2K2):c.712C>T (p.Arg238Trp)	MAP2K2 (R238W)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4 +1 more	GUncertain significance
Select item 1627676	NM_030662.4(MAP2K2):c.985-19C>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy +2 more	GConflicting classifications of pathogenicity
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 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 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 1032232	NM_030662.4(MAP2K2):c.300G>T (p.Arg100Ser)	MAP2K2 (R100S)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4	GUncertain significance
Select item 1032231	NM_030662.4(MAP2K2):c.1042A>G (p.Lys348Glu)	MAP2K2 (K348E)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 930860	NM_030662.4(MAP2K2):c.661G>A (p.Asp221Asn)	MAP2K2 (D221N)	Single nucleotide variant (missense variant)	RASopathy +1 more	GUncertain significance
Select item 837201	NM_030662.4(MAP2K2):c.335G>T (p.Arg112Leu)	MAP2K2 (R112L)	Single nucleotide variant (missense variant)	RASopathy +1 more	GLikely pathogenic
Select item 543989	NM_030662.4(MAP2K2):c.288CAT[1] (p.Ile97del)	MAP2K2 (I97del)	Microsatellite (inframe_deletion)	RASopathy +1 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
Select item 431174	NM_030662.4(MAP2K2):c.191T>G (p.Val64Gly)	MAP2K2 (V64G)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4	GLikely pathogenic
Select item 424075	NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr)	MAP2K2 (A272T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
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 376176	NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp)	MAP2K2 (N126D)	Single nucleotide variant (missense variant)	RASopathy +1 more	GPathogenic/Likely pathogenic
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 285121	NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln)	MAP2K2 (R297Q)	Single nucleotide variant (missense variant)	RASopathy +2 more	GUncertain significance
Select item 280685	NM_030662.4(MAP2K2):c.937C>T (p.Arg313Trp)	MAP2K2 (R313W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 279998	NM_030662.4(MAP2K2):c.183A>C (p.Lys61Asn)	MAP2K2 (K61N)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4 +2 more	GPathogenic/Likely pathogenic
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 227539	NM_030662.4(MAP2K2):c.581-8G>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy +3 more	GBenign/Likely benign
Select item 180907	NM_030662.4(MAP2K2):c.971A>G (p.Tyr324Cys)	MAP2K2 (Y324C)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4 +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 138160	NM_030662.4(MAP2K2):c.705+11G>C	MAP2K2	Single nucleotide variant (intron variant)	RASopathy +3 more	GBenign
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 46237	NM_030662.4(MAP2K2):c.453C>T (p.Asp151=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 46230	NM_030662.4(MAP2K2):c.258C>A (p.Val86=)	MAP2K2	Single nucleotide variant (synonymous variant)	Cardiofaciocutaneous syndrome 4 +4 more	GLikely benign
Select item 46228	NM_030662.4(MAP2K2):c.1093-6T>C	MAP2K2	Single nucleotide variant (intron variant)	RASopathy	GBenign 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 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 40835	NM_030662.4(MAP2K2):c.919+12A>G	MAP2K2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 40827	NM_030662.4(MAP2K2):c.846C>T (p.Pro282=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40824	NM_030662.4(MAP2K2):c.818A>G (p.Lys273Arg)	MAP2K2 (K273R)	Single nucleotide variant (missense variant)	RASopathy	GLikely benign FDA Recognized database
Select item 40818	NM_030662.4(MAP2K2):c.692G>T (p.Arg231Leu)	MAP2K2 (R231L)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance FDA Recognized database
Select item 40816	NM_030662.4(MAP2K2):c.660C>A (p.Ile220=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40812	NM_030662.4(MAP2K2):c.604G>A (p.Val202Met)	MAP2K2 (V202M)	Single nucleotide variant (missense variant)	RASopathy +3 more	GUncertain significance
Select item 40808	NM_030662.4(MAP2K2):c.580+6G>A	MAP2K2	Single nucleotide variant (intron 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 40789	NM_030662.4(MAP2K2):c.303+18G>A	MAP2K2	Single nucleotide variant (intron variant)	RASopathy +3 more	GBenign
Select item 40786	NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu)	MAP2K2 (S94L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance FDA Recognized database
Select item 40770	NM_030662.4(MAP2K2):c.192C>T (p.Val64=)	MAP2K2	Single nucleotide variant (synonymous variant)	RASopathy	GBenign FDA Recognized database
Select item 40769	NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu)	MAP2K2 (K61E)	Single nucleotide variant (missense variant)	RASopathy +3 more	GPathogenic/Likely pathogenic
Select item 30170	NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp)	MAP2K2 (G132D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 8275	NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln)	MAP2K2	Single nucleotide variant (missense variant)	RASopathy	GPathogenic 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 8273	NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val)	MAP2K2 (F57V)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 8272	NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys)	MAP2K2	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database

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Items: 53