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Items: 91

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
MAP2K1, SNAPC5
(D303E +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GUncertain significance
MAP2K1, SNAPC5
(L304V +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GUncertain significance
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiovascular phenotype
GLikely benign
MAP2K1, SNAPC5
(Q354H +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GUncertain significance
MAP2K1, SNAPC5
(M356V +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiovascular phenotype
+2 more
GUncertain significance
MAP2K1, SNAPC5
(M308T +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
+1 more
GUncertain significance
MAP2K1, SNAPC5
Indel
(3 prime UTR variant +2 more)
not provided
GUncertain significance
SNAPC5, MAP2K1
Microsatellite
(3 prime UTR variant +2 more)
RASopathy
GBenign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
Deletion
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
+1 more
GBenign/Likely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GBenign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GBenign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
+2 more
GBenign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(intron variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
SNAPC5, MAP2K1
Deletion
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GUncertain significance
MAP2K1, SNAPC5
(H358Y +1 more)
Single nucleotide variant
(missense variant +2 more)
RASopathy
GUncertain significance
MAP2K1, SNAPC5
Indel
(3 prime UTR variant +2 more)
not provided
GUncertain significance
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
(S316Y +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiovascular phenotype
GUncertain significance
MAP2K1, SNAPC5
(S316F +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
(F323L +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GUncertain significance
SNAPC5, MAP2K1
(A372V +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiovascular phenotype
GLikely benign
MAP2K1, SNAPC5
(L375I +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
+2 more
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiovascular phenotype
+1 more
GLikely benign
MAP2K1, SNAPC5
(S377F +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Noonan syndrome and Noonan-related syndrome
+1 more
GUncertain significance
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiovascular phenotype
GLikely benign
MAP2K1, SNAPC5
(I379V +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiovascular phenotype
+1 more
GUncertain significance
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GBenign
MAP2K1, SNAPC5
(G380S +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Noonan syndrome and Noonan-related syndrome
+1 more
GUncertain significance
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiovascular phenotype
+1 more
GLikely benign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
(N382H +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Melanoma
GPathogenic
MAP2K1, SNAPC5
(N334K +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiovascular phenotype
GUncertain significance
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GLikely benign
MAP2K1, SNAPC5
(S337G +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GUncertain significance
MAP2K1, SNAPC5
(T338I +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
GUncertain significance
MAP2K1, SNAPC5
(A390T +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
MAP2K1-related disorder
+2 more
GConflicting classifications of pathogenicity
MAP2K1, SNAPC5
(A391V +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiovascular phenotype
+2 more
GLikely benign
MAP2K1, SNAPC5
(V393I +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
RASopathy
+1 more
GConflicting classifications of pathogenicity
MAP2K1, SNAPC5
Duplication
(3 prime UTR variant +3 more)
not provided
GUncertain significance
MAP2K1, SNAPC5
Duplication
(3 prime UTR variant +3 more)
RASopathy
GUncertain significance
MAP2K1, SNAPC5
Deletion
(3 prime UTR variant +3 more)
RASopathy
GUncertain significance
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
MAP2K1, SNAPC5
Deletion
(3 prime UTR variant +1 more)
Noonan syndrome
+1 more
GUncertain significance
MAP2K1, SNAPC5
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
MAP2K1, SNAPC5
Duplication
(3 prime UTR variant +1 more)
Noonan syndrome
+2 more
GConflicting classifications of pathogenicity
MAP2K1, SNAPC5
Deletion
(3 prime UTR variant +1 more)
Noonan syndrome
+1 more
GUncertain significance
SNAPC5
(E92D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNAPC5
(T47M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNAPC5
(T75A +2 more)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GLikely benign
SNAPC5
(Q35R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNAPC5
(R5G +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC5
(S4C +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC5
(L26P)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC5
(L22V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC5
(A20T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
SNAPC5
(E7K)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
MAP2K1, SNAPC5
Deletion
RASopathy
GUncertain significance
DIS3L, MAP2K1
+3 more
Copy number gain
not provided
GUncertain significance
AAGAB, C15orf61
+21 more
Duplication
Neuronal ceroid lipofuscinosis
GUncertain significance
MAP2K1, SNAPC5
Duplication
RASopathy
GUncertain significance
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
MAP2K1, SNAPC5
Duplication
RASopathy
GUncertain significance
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
WHAMM, CCNB2
+308 more
Copy number gain
not provided
GLikely pathogenic
AAGAB, ABHD17C
+278 more
Copy number gain
See cases
GPathogenic
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