ClinVar for MedGen (Select 815337) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 52

	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 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)	not specified +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)	Noonan syndrome and Noonan-related syndrome +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)	RASopathy +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)	Cardiofaciocutaneous syndrome 4 +1 more	GUncertain significance
Select item 930860	NM_030662.4(MAP2K2):c.661G>A (p.Asp221Asn)	MAP2K2 (D221N)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4 +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)	Cardiofaciocutaneous syndrome 4 +1 more	GUncertain significance
Select item 543971	NM_030662.4(MAP2K2):c.217G>A (p.Glu73Lys)	MAP2K2 (E73K)	Single nucleotide variant (missense variant)	RASopathy +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)	Cardiofaciocutaneous syndrome 4 +4 more	GConflicting classifications of pathogenicity
Select item 378105	NM_030662.4(MAP2K2):c.450+17C>T	MAP2K2	Single nucleotide variant (intron variant)	Cardiofaciocutaneous syndrome 4 +3 more	GBenign/Likely benign
Select item 376176	NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp)	MAP2K2 (N126D)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4 +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)	Cardiofaciocutaneous syndrome 4 +2 more	GUncertain significance
Select item 280685	NM_030662.4(MAP2K2):c.937C>T (p.Arg313Trp)	MAP2K2 (R313W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 279998	NM_030662.4(MAP2K2):c.183A>C (p.Lys61Asn)	MAP2K2 (K61N)	Single nucleotide variant (missense variant)	not provided +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)	Cardiofaciocutaneous syndrome 4 +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)	Cardiofaciocutaneous syndrome 4 +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)	RASopathy +6 more	GUncertain significance
Select item 40835	NM_030662.4(MAP2K2):c.919+12A>G	MAP2K2	Single nucleotide variant (intron variant)	Cardiofaciocutaneous syndrome 4 +2 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)	Cardiovascular phenotype +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)	not specified +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)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 30170	NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp)	MAP2K2 (G132D)	Single nucleotide variant (missense variant)	Cardiofaciocutaneous syndrome 4 +1 more	GLikely pathogenic
Select item 8275	NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln)	MAP2K2	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 52