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Links from MedGen

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHROOM4
(R1056C)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(G109V)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(W128C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SHROOM4
(D1307N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
SHROOM4
(P227S)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(M814L)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
NUDT10, NUDT11
+22 more
Deletion
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
USP27X, AKAP4
+9 more
Deletion
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
Single nucleotide variant
(splice donor variant)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(E314K)
Single nucleotide variant
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(R483T)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(P405H)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
Single nucleotide variant
(intron variant)
X-linked intellectual disability, Stocco dos Santos type
GBenign
SHROOM4
(L487W)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
Single nucleotide variant
(splice donor variant)
X-linked intellectual disability, Stocco dos Santos type
GLikely pathogenic
SHROOM4
(E1181Q)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(Q259K)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
+1 more
GUncertain significance
SHROOM4
(R242C)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(R1441H)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(T840I)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(V620A)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(S530F)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(E386G)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(A389S)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(F1058L)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(R933Q)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GLikely benign
SHROOM4
(H788Y)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(L1024P)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(E666K)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(S891I)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(E1319K)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
SHROOM4
(R925W)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
+1 more
GUncertain significance
SHROOM4
(E1035A)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
+1 more
GConflicting classifications of pathogenicity
SHROOM4
(R146W)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
SHROOM4
Indel
(inframe_insertion +1 more)
X-linked intellectual disability, Stocco dos Santos type
+1 more
GBenign/Likely benign
SHROOM4
(E731G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
SHROOM4
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GBenign
SHROOM4
Microsatellite
(inframe_insertion +1 more)
Inborn genetic diseases
+2 more
GBenign
SHROOM4
Duplication
(inframe_insertion +1 more)
Inborn genetic diseases
+2 more
GBenign
SHROOM4
(S1089L)
Single nucleotide variant
(missense variant +1 more)
X-linked intellectual disability, Stocco dos Santos type
GUncertain significance
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