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Items: 1 to 100 of 407

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006222, LOC130006223
+282 more
Copy number loss
See cases
GPathogenic
LOC130006168, LOC130006169
+212 more
Copy number gain
See cases
GPathogenic
ACY3, AIP
+129 more
Copy number loss
See cases
GPathogenic
ACY3, AIP
+206 more
Copy number loss
See cases
GLikely pathogenic
LOC130006216, LOC130006217
+54 more
Copy number loss
See cases
GBenign
ACY3, AIP
+98 more
Copy number loss
See cases
GPathogenic
CABP4, GPR152
(L89P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CABP4, GPR152
(R65C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CABP4, GPR152
(G61R)
Single nucleotide variant
(missense variant +1 more)
Cone-rod synaptic disorder, congenital nonprogressive
GBenign
CABP4, GPR152
(H60Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CABP4, GPR152
(A54V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CABP4, GPR152
(E19D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CABP4
Single nucleotide variant
(intron variant)
not provided
GBenign
CABP4
Single nucleotide variant
(5 prime UTR variant +2 more)
Cone-rod synaptic disorder, congenital nonprogressive
GUncertain significance
CABP4
(T2A)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(E4Q)
Single nucleotide variant
(5 prime UTR variant +4 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CABP4
(Q5H)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(R7S)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
(I16V)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(I16T)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CABP4
(G17A)
Single nucleotide variant
(missense variant +3 more)
not provided
GBenign
CABP4
(R18C)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(R18H)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GBenign
CABP4
(K20R)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(P22fs)
Deletion
(5 prime UTR variant +3 more)
Cone-rod synaptic disorder, congenital nonprogressive
+1 more
GPathogenic/Likely pathogenic
CABP4
(P21fs)
Indel
(5 prime UTR variant +3 more)
Cone-rod synaptic disorder, congenital nonprogressive
GPathogenic
CABP4
(P22A)
Single nucleotide variant
(non-coding transcript variant +3 more)
not provided
GUncertain significance
CABP4
(P22L)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(A23fs)
Duplication
(5 prime UTR variant +3 more)
not provided
GPathogenic
CABP4
(A23V)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
(A23G)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(V25F)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(V25I)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(V25A)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
CABP4
(P28fs)
Insertion
(5 prime UTR variant +3 more)
not provided
+1 more
GPathogenic
CABP4
(K29R)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
(P36R)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
CABP4-related disorder
+1 more
GLikely benign
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
(T38I)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
Single nucleotide variant
(non-coding transcript variant +3 more)
not provided
GLikely benign
CABP4
(R46T)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(G47R)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(L48H)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(R49*)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GPathogenic
CABP4
(R49Q)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(R52G)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(R52*)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GPathogenic
CABP4
(R52Q)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GConflicting classifications of pathogenicity
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(G63S)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GConflicting classifications of pathogenicity
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not specified
+2 more
GBenign
CABP4
(E65K)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
(E65G)
Single nucleotide variant
(5 prime UTR variant +3 more)
Cone-rod synaptic disorder, congenital nonprogressive
GUncertain significance
CABP4
(P67L)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
(N72H)
Single nucleotide variant
(5 prime UTR variant +3 more)
Cone-rod synaptic disorder, congenital nonprogressive
+1 more
GConflicting classifications of pathogenicity
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
(P74T)
Single nucleotide variant
(5 prime UTR variant +3 more)
Inborn genetic diseases
GUncertain significance
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
Cone-rod synaptic disorder, congenital nonprogressive
+1 more
GConflicting classifications of pathogenicity
CABP4
(E78fs)
Microsatellite
(5 prime UTR variant +3 more)
not provided
GPathogenic
CABP4
(G77A)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
+2 more
GUncertain significance
CABP4
(E78V)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
(P80L)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
(A81V)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
CABP4-related disorder
+2 more
GConflicting classifications of pathogenicity
CABP4
(A83P)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(A83T)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(P84T)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(P85S)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(A86T)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(S87T)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(S87C)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
+1 more
GUncertain significance
CABP4
(S87F)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(P88S)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
(P90L)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
CABP4
(R94C)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(R94P)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GUncertain significance
CABP4
(R94H)
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CABP4
(Q95R)
Single nucleotide variant
(5 prime UTR variant +3 more)
Inborn genetic diseases
GUncertain significance
CABP4
(R98*)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GPathogenic
CABP4
(R98Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
CABP4
(H99L)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
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