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Items: 85

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
LOC130064626, LOC130064627
+215 more
Duplication
Schizophrenia
GLikely pathogenic
PHLDB3, PINLYP
+55 more
Copy number gain
See cases
GUncertain significance
SMG9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMG9
(W503S)
Single nucleotide variant
(missense variant)
Heart and brain malformation syndrome
GPathogenic
SMG9
(R501Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
Single nucleotide variant
(synonymous variant)
SMG9-related disorder
GLikely benign
SMG9
(Q476*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
GPathogenic
SMG9
(R474W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(Y460C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(S451N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
SMG9
Single nucleotide variant
(synonymous variant)
SMG9-related disorder
GLikely benign
SMG9
(D420H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(L417F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(P415L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMG9
(N412S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMG9
Single nucleotide variant
(synonymous variant)
SMG9-related disorder
GLikely benign
SMG9
(Q393*)
Single nucleotide variant
(nonsense)
Heart and brain malformation syndrome
+1 more
GPathogenic
SMG9
(R385Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
SMG9
(R382W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(R375H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
Single nucleotide variant
(intron variant)
SMG9-related disorder
GLikely benign
SMG9
Single nucleotide variant
(synonymous variant)
SMG9-related disorder
GLikely benign
SMG9
(G356V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMG9
Single nucleotide variant
(synonymous variant)
SMG9-related disorder
GBenign
SMG9
(H316R)
Single nucleotide variant
(missense variant)
Autism spectrum disorder
Gassociation
SMG9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMG9
(T298A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(E263*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
SMG9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMG9
(N251S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(N251H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
Single nucleotide variant
(intron variant)
Heart and brain malformation syndrome
GBenign
SMG9
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
SMG9
(M221T)
Single nucleotide variant
(missense variant)
Heart and brain malformation syndrome
GUncertain significance
SMG9
(V220I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SMG9
(V204E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMG9
(V204fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
SMG9
Single nucleotide variant
(intron variant)
SMG9-related disorder
GLikely benign
SMG9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMG9
Single nucleotide variant
(intron variant)
not provided
GBenign
SMG9
Single nucleotide variant
(synonymous variant)
SMG9-related disorder
GLikely benign
SMG9
(V184A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
GPathogenic
SMG9
(M177T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(R176P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(P174fs)
Deletion
(frameshift variant)
Brainstem dysplasia
+3 more
GLikely pathogenic
SMG9
(P173L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(P164S)
Single nucleotide variant
(missense variant)
Heart and brain malformation syndrome
GUncertain significance
SMG9
(G153V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMG9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMG9
(A128T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMG9
(P126L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SMG9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMG9
(T122N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(G121V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
Single nucleotide variant
(synonymous variant)
not provided
GBenign
LOC130064611, SMG9
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130064611, SMG9
(P103L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130064611, SMG9
(A84D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130064611, SMG9
(T83I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130064611, SMG9
(T83A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LOC130064611, SMG9
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
SMG9, LOC130064611
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMG9
(I66V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(P65S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMG9
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SMG9
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GLikely benign
SMG9
(R47G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(W45R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(R37Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(R37W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMG9
(G36S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMG9
(R17W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMG9
(Q8*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
SMG9
(H6fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
SMG9
Deletion
Heart and brain malformation syndrome
GPathogenic
ZNF229, ZNF230
+37 more
Duplication
Ethylmalonic encephalopathy
GUncertain significance
ACP7, ACTMAP
+434 more
Copy number gain
not provided
GPathogenic
BICRA, BLOC1S3
+1364 more
Copy number gain
See cases
GPathogenic
A1BG, ABCA7
+1364 more
Copy number gain
See cases
GPathogenic
ERCC2, PPP5C
+121 more
Copy number loss
See cases
GPathogenic
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