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Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
ADNP, ADNP-AS1
+124 more
Copy number loss
See cases
GPathogenic
SPATA2
(V518M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(P491A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(R465H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(S448T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(R442C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(D441N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(T437N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(G426R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(A424T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(S411R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(R397C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(S391G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(C390Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(R371C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(H365R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(A364G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(D333H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(Y328C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(G326S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SPATA2
(R325H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(P309R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(S303N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(M301I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(L287P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(D285N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(T281M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(A280S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(L272W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(R264Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(S253L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(E236K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(L230P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(R213Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(R212W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(A210T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(K198N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(E190K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(Q182R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(V171I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(E143V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(C137F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(E129K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(V122I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(V95M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(A88T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(R83Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPATA2
(R62W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(V44M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(R43Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(S38N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA2
(R17W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PEDS1, PEDS1-UBE2V1
+6 more
Copy number gain
not provided
GUncertain significance
PREX1, PTGIS
+79 more
Copy number loss
Developmental and epileptic encephalopathy, 26
GPathogenic
B4GALT5, KCNB1
+4 more
Copy number loss
not provided
GUncertain significance
ADNP, ARFGEF2
+27 more
Duplication
not provided
GUncertain significance
ADNP, ARFGEF2
+28 more
Copy number loss
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
SPATA2, STAU1
+24 more
Copy number loss
See cases
GLikely pathogenic
KCNG1, SPATA2
+22 more
Copy number loss
See cases
GLikely pathogenic
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