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Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGL, AKNAD1
+195 more
Copy number loss
See cases
GPathogenic
AGL, AHCYL1
+333 more
Copy number loss
See cases
GPathogenic
ELAPOR1, EPS8L3
+276 more
Copy number loss
See cases
GPathogenic
AHCYL1, AKNAD1
+242 more
Deletion
Autism
GLikely pathogenic
LINC01780, LINC02868
+563 more
Copy number gain
See cases
GPathogenic
ADORA3, AHCYL1
+274 more
Copy number loss
See cases
GPathogenic
AHCYL1, AKNAD1
+148 more
Copy number loss
See cases
GPathogenic
FNDC7
(T7S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(L41P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(P53R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(T81K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(T81M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(S97R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(A98T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(E134G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FNDC7
(E171K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(S200N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(R202W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(N206I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7, LOC129931079
(F229L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7, LOC129931080
(A268T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7, LOC129931080
(K276Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(D298E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(V305L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FNDC7
(T335P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(F339Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(G344S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(G363V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(W392L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(A420V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(T422N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(S424L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(V476M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(R479Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FNDC7
(G493R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(G504E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(R510Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(L512F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(E525K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(R530W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(R530Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(P538L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(V561M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(T580A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(T587I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(V605M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FNDC7
(S611N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(P631L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(R645W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(G653V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(S664P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(G666A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(T669M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(P685T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(L702F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(P708L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FNDC7
(L721R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKNAD1, CELSR2
+10 more
Copy number gain
not specified
GUncertain significance
AKNAD1, EEIG2
+4 more
Copy number gain
not provided
GUncertain significance
AHCYL1, AKNAD1
+52 more
Deletion
Hereditary spastic paraplegia 63
+1 more
GPathogenic
AKNAD1, CLCC1
+9 more
Deletion
not provided
GUncertain significance
ADORA3, AGL
+124 more
Copy number loss
not specified
GPathogenic
AKNAD1, AMIGO1
+30 more
Copy number loss
not provided
GUncertain significance
ATP1A1, RAP1A
+131 more
Copy number loss
Seizure
+1 more
GPathogenic
AKNAD1, EEIG2
+7 more
Copy number gain
not provided
GUncertain significance
AHCYL1, AKNAD1
+47 more
Deletion
not provided
Gnot provided
KCNC4, LAMTOR5
+50 more
Deletion
1p13.3 deletion syndrome
GLikely pathogenic
ABCA4, ABCD3
+177 more
Copy number gain
See cases
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
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