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Items: 1 to 100 of 204

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MSN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSN
Deletion
(intron variant)
not provided
GLikely benign
MSN
Insertion
(intron variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MSN
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
MSN
(R8C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(R8H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MSN
(E17*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MSN
(E17A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(I20V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
(Q21H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(N23S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
MSN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSN
(I37V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(L39*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MSN
(E41G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
(L47M)
Single nucleotide variant
(missense variant)
Autism
GUncertain significance
MSN
(Q48H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(intron variant)
not provided
GBenign
MSN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(intron variant)
not provided
GBenign
MSN
(V70L)
Single nucleotide variant
(missense variant)
not provided
GBenign
MSN
(R81C)
Single nucleotide variant
(missense variant)
not provided
GBenign
MSN
(R81H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
(Y85C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
(E91K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MSN
(R100H)
Single nucleotide variant
(missense variant)
not provided
GBenign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
(G109D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
(V130I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MSN
(D136N)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MSN
(N138S)
Single nucleotide variant
(missense variant)
not provided
GBenign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
(S144T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(A148V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
(G149R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MSN
(K151N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(L153F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(P154L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MSN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSN
(H161Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(K162N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(K165N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(W168*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MSN
(R171W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
MSN
Single nucleotide variant
(synonymous variant)
MSN-related disorder
+1 more
GBenign
MSN
(R180H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(V188I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(Q196fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
MSN
(Q196*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
(I208M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
(I227F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(Q230R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MSN
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MSN
(T235S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(D252G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(intron variant)
not provided
GBenign
MSN
(V268I)
Single nucleotide variant
(missense variant)
not provided
GBenign
MSN
(R273W)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to moesin deficiency
GUncertain significance
MSN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
(M292L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(R293C)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to moesin deficiency
+1 more
GUncertain significance
MSN
(R294C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MSN
(R295H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MSN
(Q308E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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