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Links from MedGen

Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OPHN1
Deletion
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
(L638P)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(W278S)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(I485fs)
Duplication
(frameshift variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GLikely pathogenic
OPHN1
Deletion
(splice donor variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GLikely pathogenic
OPHN1
Single nucleotide variant
(splice acceptor variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GLikely pathogenic
OPHN1
(A572P)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(N99Y)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(R594H)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(G281R)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(Q290R)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(H717R)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(T77I)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(T410A)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(E361fs)
Insertion
(frameshift variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GLikely pathogenic
OPHN1
Deletion
X-linked intellectual disability-cerebellar hypoplasia syndrome
GLikely pathogenic
OPHN1
(I527V)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(D110Y)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(P578L)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(G529E)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GLikely pathogenic
OPHN1
Single nucleotide variant
(intron variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GLikely pathogenic
OPHN1
Single nucleotide variant
(splice donor variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
(P619L)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(Y271C)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(R409H)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
+1 more
GUncertain significance
OPHN1
Duplication
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
Single nucleotide variant
(splice donor variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
Single nucleotide variant
(splice donor variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GLikely pathogenic
OPHN1
Duplication
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
Single nucleotide variant
(splice acceptor variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
(V57D)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
Single nucleotide variant
(splice acceptor variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GLikely pathogenic
OPHN1
Single nucleotide variant
(intron variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GLikely pathogenic
OPHN1
(P630H)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
Single nucleotide variant
(intron variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
Deletion
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
OPHN1
(A710V)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
Deletion
(splice acceptor variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GLikely pathogenic
OPHN1
(L64P)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(M50V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OPHN1
(S448F)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
Single nucleotide variant
(splice donor variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
Duplication
(inframe_insertion)
X-linked intellectual disability-cerebellar hypoplasia syndrome
+1 more
GConflicting classifications of pathogenicity
OPHN1
(M380T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OPHN1
(R454K)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GLikely pathogenic
OPHN1
(R497*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
OPHN1
(D723G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
OPHN1
(I72T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OPHN1
(R409C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
OPHN1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
OPHN1
(R788W)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
OPHN1
(R788Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
OPHN1
(D679N)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GLikely pathogenic
OPHN1
(D538G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
OPHN1
(P686S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
OPHN1
(T301M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
OPHN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OPHN1
(Q166*)
Single nucleotide variant
(nonsense)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
Single nucleotide variant
(intron variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
OPHN1
(M693I)
Single nucleotide variant
(missense variant)
OPHN1-related disorder
+4 more
GBenign/Likely benign
OPHN1
(A45T)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
OPHN1
Deletion
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
(V215fs)
Microsatellite
(frameshift variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
Deletion
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
(Q62*)
Single nucleotide variant
(nonsense)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
(K251fs)
Duplication
(frameshift variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
(I527fs)
Deletion
(frameshift variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
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