U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP2K1
Single nucleotide variant
(intron variant)
Cardiofaciocutaneous syndrome 3
+1 more
GConflicting classifications of pathogenicity
MAP2K1
Single nucleotide variant
(intron variant)
Cardiofaciocutaneous syndrome 3
GUncertain significance
MAP2K1
(M208T +1 more)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 3
GLikely pathogenic
MAP2K1
(P124A)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 3
GLikely pathogenic
MAP2K1
Single nucleotide variant
(intron variant)
Melorheostosis
+3 more
GLikely benign
MAP2K1
(E203Q)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 3
GPathogenic
MAP2K1
(P89T)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 3
GLikely pathogenic
MAP2K1
(G128A)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 3
GPathogenic
MAP2K1
Single nucleotide variant
(splice donor variant +1 more)
not provided
+2 more
GUncertain significance
MAP2K1
(M143V)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K1
(Q58H)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 3
GUncertain significance
MAP2K1
(Y130N)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 3
GPathogenic
MAP2K1
(P321S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
MAP2K1
Indel
(intron variant)
RASopathy
+5 more
GLikely benign
MAP2K1
(E203K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely pathogenic
MAP2K1
(P124S)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
MAP2K1
(R108L)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
MAP2K1
(N122D)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
MAP2K1
(K59del)
Deletion
(inframe_deletion)
RASopathy
+1 more
GLikely pathogenic
MAP2K1
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
MAP2K1
(L42F)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MAP2K1
Single nucleotide variant
Cardiofaciocutaneous syndrome 3
+2 more
GBenign
MAP2K1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
MAP2K1
(D67N)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
MAP2K1
Single nucleotide variant
(intron variant)
Cardiofaciocutaneous syndrome 3
+3 more
GBenign
MAP2K1
(P124L)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 3
+4 more
GPathogenic/Likely pathogenic
MAP2K1
(P124Q)
Single nucleotide variant
(missense variant)
Neoplasm of the large intestine
+4 more
GPathogenic/Likely pathogenic
MAP2K1
(P124T)
Single nucleotide variant
(missense variant)
Cardiofaciocutaneous syndrome 3
GUncertain significance
MAP2K1
(G128V)
Single nucleotide variant
(missense variant)
RASopathy
+2 more
GPathogenic/Likely pathogenic
MAP2K1
(Y130C)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
MAP2K1
(F53S)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
Format
Items per page
Sort by
Choose Destination