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Items: 86

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAL3ST3, GPR152
+282 more
Copy number loss
See cases
GPathogenic
AP5B1
(Y870C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(A867V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AP5B1
(P865L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(V863M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(R857W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(P836L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(P835S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(R797H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(F781C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(V740G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(R731Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(R722C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(A709P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(E700K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(F697L)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
AP5B1
(P689A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(K681Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AP5B1
(R665W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(A620P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(R613H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(R609C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(L603V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(Q597H)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
GUncertain significance
AP5B1
(D594N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(T568M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP5B1
(P531L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(V527A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(P518L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(E517K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(D512E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP5B1
(R497W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(G489R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(R459G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(A452V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(R451W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(R438G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(E430K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(R415C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(S404N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(L401F)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia
+1 more
GUncertain significance
AP5B1
(R399C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(P383S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(H357Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(L351F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP5B1
(L328V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(A326T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(G299D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(D276G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(R257L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AP5B1
(R252P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(P243S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(G220D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(T218N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(A192V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(S186N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(L171W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(G170E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(L164P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(P145S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(E142Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(P139L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AP5B1
(L98Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(P89S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(P87L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(S69F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(A62V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP5B1
(P61T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTN3, ACY3
+343 more
Copy number gain
not specified
GLikely pathogenic
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
AP5B1, CFL1
+15 more
Deletion
Aicardi-Goutieres syndrome 3
GUncertain significance
ACTN3, ACY3
+124 more
Duplication
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
ACTN3, AP5B1
+63 more
Copy number loss
not specified
GUncertain significance
AP5B1, ARL2
+81 more
Deletion
Bardet-Biedl syndrome
+1 more
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
AP5B1, OVOL1
Copy number loss
not provided
GUncertain significance
AP5B1, CFL1
+5 more
Copy number gain
not provided
GUncertain significance
ACTN3, ACY3
+94 more
Copy number gain
not provided
GPathogenic
ACTN3, ANKRD13D
+104 more
Copy number gain
See cases
GLikely pathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
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