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Links from MedGen

Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP2K2
(G217A)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
GUncertain significance
MAP2K2
(G302fs)
Duplication
(frameshift variant)
Cardiofaciocutaneous syndrome 4
+1 more
GUncertain significance
MAP2K2
(A56D)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
GLikely pathogenic
MAP2K2
(R238W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
MAP2K2
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MAP2K2
(D323E)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
MAP2K2
Single nucleotide variant
(synonymous variant)
RASopathy
+1 more
GUncertain significance
MAP2K2
(R100S)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
GUncertain significance
MAP2K2
(K348E)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
+1 more
GUncertain significance
MAP2K2
(D221N)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
+1 more
GUncertain significance
MAP2K2
(R112L)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GLikely pathogenic
MAP2K2
(I97del)
Microsatellite
(inframe_deletion)
Cardiofaciocutaneous syndrome 4
+1 more
GUncertain significance
MAP2K2
(E73K)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
+2 more
GUncertain significance
MAP2K2
(V64G)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
GLikely pathogenic
MAP2K2
(A272T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
MAP2K2
Single nucleotide variant
(intron variant)
Cardiofaciocutaneous syndrome 4
+3 more
GBenign/Likely benign
MAP2K2
(N126D)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GPathogenic/Likely pathogenic
MAP2K2
(G83S)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
+3 more
GUncertain significance
MAP2K2
(R297Q)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
+2 more
GUncertain significance
MAP2K2
(R313W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MAP2K2
(K61N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
MAP2K2
(T396M)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
MAP2K2
(Y324C)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
+2 more
GUncertain significance
MAP2K2
(R179W)
Single nucleotide variant
(missense variant)
RASopathy
GLikely benign
MAP2K2
Single nucleotide variant
(intron variant)
Cardiofaciocutaneous syndrome 4
+3 more
GBenign
MAP2K2
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
MAP2K2
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
MAP2K2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GLikely benign
MAP2K2
Single nucleotide variant
(intron variant)
RASopathy
GBenign
MAP2K2
(R388W)
Single nucleotide variant
(missense variant)
RASopathy
GBenign
MAP2K2
(R313Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
MAP2K2
Single nucleotide variant
(intron variant)
Cardiofaciocutaneous syndrome 4
+2 more
GBenign
MAP2K2
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
MAP2K2
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
MAP2K2
(K273R)
Single nucleotide variant
(missense variant)
RASopathy
GLikely benign
MAP2K2
(R231L)
Single nucleotide variant
(missense variant)
Noonan syndrome and Noonan-related syndrome
GUncertain significance
MAP2K2
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
MAP2K2
(V202M)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
+2 more
GUncertain significance
MAP2K2
Single nucleotide variant
(intron variant)
RASopathy
GBenign
MAP2K2
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
MAP2K2
Single nucleotide variant
(intron variant)
Cardiofaciocutaneous syndrome 4
+3 more
GBenign
MAP2K2
(S94L)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K2
Single nucleotide variant
(synonymous variant)
RASopathy
GBenign
MAP2K2
(K61E)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
+3 more
GPathogenic/Likely pathogenic
MAP2K2
(G132D)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 4
+1 more
GLikely pathogenic
MAP2K2
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
MAP2K2
(Y134H)
Single nucleotide variant
(missense variant)
RASopathy
GLikely pathogenic
MAP2K2
(F57V)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
MAP2K2
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
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