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Items: 1 to 100 of 573

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057816, LOC130057817
+1763 more
Copy number gain
See cases
GPathogenic
LOC130057338, MAP2K1
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC130057338, MAP2K1
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
MAP2K1, TIPIN
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
MAP2K1
Single nucleotide variant
not provided
GBenign
MAP2K1
Single nucleotide variant
not provided
GUncertain significance
MAP2K1
Single nucleotide variant
not provided
GLikely benign
LOC130057339, MAP2K1
Single nucleotide variant
not provided
GLikely benign
LOC130057340, MAP2K1
Microsatellite
(5 prime UTR variant)
Cardio-facio-cutaneous syndrome
+2 more
GLikely benign
LOC130057340, MAP2K1
Duplication
(5 prime UTR variant)
not provided
GLikely benign
LOC130057340, MAP2K1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LOC130057340, MAP2K1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LOC130057340, MAP2K1
Duplication
not specified
GBenign
MAP2K1
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
+4 more
GBenign
MAP2K1
(P2R)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K1
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
MAP2K1
Single nucleotide variant
(synonymous variant)
Noonan syndrome and Noonan-related syndrome
+4 more
GBenign/Likely benign
MAP2K1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP2K1
(K4R)
Single nucleotide variant
(missense variant)
RASopathy
+1 more
GUncertain significance
MAP2K1
Single nucleotide variant
(synonymous variant)
RASopathy
+1 more
GLikely benign
MAP2K1
(K5N)
Single nucleotide variant
(missense variant)
MAP2K1-related condition
GUncertain significance
MAP2K1
Single nucleotide variant
(synonymous variant)
RASopathy
+1 more
GLikely benign
MAP2K1
(Q10L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAP2K1
(L11V)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K1
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
MAP2K1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAP2K1
(P13S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP2K1
Single nucleotide variant
(synonymous variant)
RASopathy
+1 more
GLikely benign
MAP2K1
(A14V)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K1
(D16fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
MAP2K1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MAP2K1
(P15A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
MAP2K1
(P15S)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
MAP2K1
(D16E)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K1
(S18C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP2K1
(A19G)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MAP2K1
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
MAP2K1
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
MAP2K1
(S24G)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K1
(S24T)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K1
(A26T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP2K1
(A26V)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K1
Single nucleotide variant
(splice donor variant)
RASopathy
GUncertain significance
MAP2K1
Single nucleotide variant
(intron variant)
RASopathy
GUncertain significance
MAP2K1
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
MAP2K1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MAP2K1
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
MAP2K1
Deletion
(intron variant)
RASopathy
GLikely benign
MAP2K1
Single nucleotide variant
(intron variant)
not provided
GBenign
MAP2K1
Single nucleotide variant
(intron variant)
not provided
GBenign
MAP2K1
Single nucleotide variant
(intron variant)
not provided
GBenign
MAP2K1
Single nucleotide variant
(intron variant)
not provided
GBenign
MAP2K1
Deletion
(intron variant)
not provided
GBenign
MAP2K1
Deletion
(intron variant)
not provided
GBenign
MAP2K1
Deletion
(intron variant)
not provided
GBenign
MAP2K1
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
MAP2K1
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
MAP2K1
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
MAP2K1
Single nucleotide variant
(intron variant)
RASopathy
GLikely benign
MAP2K1
Single nucleotide variant
(synonymous variant)
RASopathy
GUncertain significance
MAP2K1
(N29S +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K1
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
MAP2K1
(A10V +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
MAP2K1
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
MAP2K1
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
MAP2K1
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
MAP2K1
(L42F)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MAP2K1
(L20R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP2K1
(D43del)
Microsatellite
(inframe_deletion)
RASopathy
GUncertain significance
MAP2K1
Deletion
(inframe_deletion)
RASopathy
GUncertain significance
MAP2K1
(Q45H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAP2K1
(Q46L)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GLikely pathogenic
MAP2K1
(Q24fs +1 more)
Deletion
(frameshift variant)
RASopathy
GUncertain significance
MAP2K1
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
MAP2K1
(R25* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GUncertain significance
MAP2K1
(R47Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MAP2K1
(R27H +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K1
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
MAP2K1
(L50P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MAP2K1
Single nucleotide variant
(synonymous variant)
RASopathy
GLikely benign
MAP2K1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
MAP2K1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
MAP2K1
(F53I)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+3 more
GLikely pathogenic
MAP2K1
(F53V)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+3 more
GLikely pathogenic
MAP2K1
(F53L)
Single nucleotide variant
(missense variant)
Melanoma
GPathogenic
MAP2K1
(F53S)
Single nucleotide variant
(missense variant)
Cardio-facio-cutaneous syndrome
GPathogenic
MAP2K1
(F53L)
Single nucleotide variant
(missense variant)
Gastric adenocarcinoma
+3 more
GLikely pathogenic
MAP2K1
(L54P)
Single nucleotide variant
(missense variant)
RASopathy
GPathogenic
MAP2K1
Deletion
(inframe_deletion)
Vascular malformation
GLikely pathogenic
MAP2K1
(Q56P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
MAP2K1
(K57E)
Single nucleotide variant
(missense variant)
Melanoma
+1 more
GPathogenic/Likely pathogenic
MAP2K1
(K57Q)
Single nucleotide variant
(missense variant)
RASopathy
GLikely pathogenic
MAP2K1
(K35M +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
MAP2K1
(K57T)
Single nucleotide variant
(missense variant)
Prostate adenocarcinoma
+5 more
GLikely pathogenic
MAP2K1
(K57N)
Single nucleotide variant
(missense variant)
Melanoma
+6 more
GLikely pathogenic
MAP2K1
(K57N)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
MAP2K1
Deletion
(inframe_deletion)
Vascular malformation
+1 more
GPathogenic/Likely pathogenic
MAP2K1
(Q36R +1 more)
Single nucleotide variant
(missense variant)
RASopathy
GUncertain significance
MAP2K1
(K59del)
Deletion
(inframe_deletion)
RASopathy
+1 more
GLikely pathogenic
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