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Links from Gene

Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OPHN1
(R147G)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
(L76fs)
Microsatellite
(frameshift variant)
not provided
GPathogenic
OPHN1
(T75A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OPHN1
Copy number loss
not specified
GPathogenic
OPHN1
Copy number loss
not specified
GPathogenic
OPHN1
Deletion
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
Copy number gain
not provided
GUncertain significance
OPHN1
(W278S)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance
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
(T63R)
Single nucleotide variant
(missense variant)
Autism spectrum disorder
GUncertain significance
OPHN1
Copy number gain
not provided
GUncertain significance
OPHN1
(G529E)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GLikely pathogenic
OPHN1
Copy number loss
not specified
GPathogenic
OPHN1
(P619L)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
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
Duplication
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
(N422fs)
Deletion
(frameshift variant)
not provided
GPathogenic
OPHN1
(A472fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
OPHN1
Deletion
Congenital cerebellar hypoplasia
GLikely pathogenic
OPHN1
(N395D)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely benign
OPHN1
(K306Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OPHN1
Copy number gain
See cases
GUncertain significance
OPHN1
Copy number gain
See cases
GUncertain significance
OPHN1
(S605F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
OPHN1
Copy number gain
See cases
GBenign
OPHN1
Copy number gain
See cases
GPathogenic
OPHN1
Copy number gain
See cases
GUncertain significance
OPHN1
Deletion
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
OPHN1
Deletion
X-linked intellectual disability-cerebellar hypoplasia syndrome
GPathogenic
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