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Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860963, LOC126860964
+1008 more
Copy number gain
See cases
GPathogenic
ADIRF, ADIRF-AS1
+174 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+178 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+166 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+178 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+168 more
Copy number loss
See cases
GPathogenic
SHLD2, SNCG
+168 more
Copy number gain
See cases
GPathogenic
LOC132089876, LOC132090824
+163 more
Copy number loss
See cases
GPathogenic
LOC130004227, LOC130004228
+168 more
Copy number loss
See cases
GPathogenic
ADIRF, ADIRF-AS1
+175 more
Copy number loss
See cases
GPathogenic
ANXA11, BMPR1A
+150 more
Copy number loss
See cases
GPathogenic
LINC00857, LINC00858
+147 more
Copy number loss
See cases
GPathogenic
ATAD1, ACTA2
+151 more
Copy number gain
See cases
GPathogenic
GRID1, GRID1-AS1
(G995D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1, GRID1-AS1
(P984S)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1, GRID1-AS1
(P980L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1, GRID1-AS1
(P952L)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1, GRID1-AS1
(R918Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1, GRID1-AS1
(S897L)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1, GRID1-AS1
(R879H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRID1
(K866R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(T864I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(R859W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(L844V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(A817T)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(H776Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(S757L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(T752M)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(A718S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(G716R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GRID1
(E707G)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(A686T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(D684H)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(A650T)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GPathogenic
GRID1
(W637C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(I632L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(R631S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(V625M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(V617I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(S607G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(T604I)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(A603V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(A603D)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
+1 more
GUncertain significance
GRID1
(A601S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(I554F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(P548S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(K547E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(G542A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(V529I)
Single nucleotide variant
(missense variant)
not provided
GBenign
GRID1
(I505V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(T499N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(T499A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(G493S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(R491T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(V470A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(I456L)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(V450M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GRID1
(E447K)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(M430V)
Single nucleotide variant
(missense variant)
not provided
GBenign
GRID1
(P429R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(P429T)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(R384Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GRID1
(H373Q)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(R363K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(A347G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(R341Q)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(D307N)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GRID1
(L305F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(R300L)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(T295M)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
GRID1
(T295S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(D290H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(S287Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(P286L)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(T279I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1, LOC130004223
Copy number gain
See cases
GLikely benign
GRID1
(A236S)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(A227T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(R225C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(R221Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GRID1
(K199R)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(V192I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(R187Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(I175V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
Deletion
(intron variant)
Gestational diabetes mellitus uncontrolled
Gnot provided
GRID1
(E172K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(D170N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(M167V)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(V166I)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(R161H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(R161C)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(N150S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(R148C)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
GRID1
(P146L)
Single nucleotide variant
(missense variant)
Abnormality of neuronal migration
GBenign
GRID1
(G136D)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(A127T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GRID1
(P120Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GRID1
(R118L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRID1
(R118H)
Single nucleotide variant
(missense variant)
GRID1-associated neurodevelopmental disorder
GUncertain significance
GRID1
(Q117E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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