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Items: 46

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MAPK1
(A352S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
(L338V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
(F329L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
(P323H)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MAPK1
(P323R)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
MAPK1
(E322Q)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+6 more
GPathogenic
MAPK1
(E322K)
Single nucleotide variant
(missense variant)
Squamous cell carcinoma of the head and neck
+3 more
GLikely pathogenic
OLikely oncogenic
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MAPK1
(S320I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
Single nucleotide variant
(synonymous variant)
MAPK1-related disorder
GLikely benign
MAPK1
(P319L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
(D318G)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
MAPK1
(D318N)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
MAPK1
Single nucleotide variant
(synonymous variant)
MAPK1-related disorder
GLikely benign
MAPK1
(Y316H)
Single nucleotide variant
(missense variant)
Noonan syndrome 13
GLikely pathogenic
MAPK1
(E305G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAPK1
(I255V)
Single nucleotide variant
(missense variant)
Noonan syndrome 13
GLikely pathogenic
MAPK1
Single nucleotide variant
(intron variant)
MAPK1-related disorder
GUncertain significance
MAPK1
(I227V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAPK1
Single nucleotide variant
(intron variant)
MAPK1-related disorder
GLikely benign
MAPK1
(D175E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
(A174V)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
MAPK1
Single nucleotide variant
(intron variant)
MAPK1-related disorder
GLikely benign
MAPK1
(K164Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAPK1
(R135T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MAPK1
(H120N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MAPK1
(I103V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
(T94A)
Single nucleotide variant
(missense variant)
MAPK1-related disorder
GLikely benign
MAPK1
(E81K)
Single nucleotide variant
(missense variant)
MAPK1-related disorder
GLikely pathogenic
MAPK1
(H80Y)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
MAPK1
(I74N)
Single nucleotide variant
(missense variant)
Abnormal facial shape
+5 more
GPathogenic
MAPK1
(A52D)
Single nucleotide variant
(missense variant)
Noonan syndrome 13
GUncertain significance
MAPK1
Microsatellite
(intron variant)
MAPK1-related disorder
GLikely benign
MAPK1
(A35T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
(N27D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MAPK1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MAPK1
Microsatellite
(inframe_indel +2 more)
MAPK1-related disorder
+1 more
GUncertain significance
MAPK1
Microsatellite
(inframe_insertion +1 more)
not provided
GBenign
MAPK1
(A7del)
Microsatellite
(inframe_indel +2 more)
MAPK1-related disorder
GBenign
MAPK1
(L107P)
Single nucleotide variant
(missense variant)
Noonan syndrome 13
GUncertain significance
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