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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AP4E1, ATP8B4
+190 more
Copy number loss
See cases
GPathogenic
ADAM10, ALDH1A2
+287 more
Copy number loss
See cases
GPathogenic
ARPP19, ATOSA
+176 more
Copy number loss
See cases
GPathogenic
DMXL2, GLDN
+27 more
Inversion
Aromatase excess syndrome
GPathogenic
LOC105370829, LOC108281154
+179 more
Inversion
Aromatase excess syndrome
GPathogenic
LOC121530581, LOC130057054
+13 more
Duplication
Developmental and epileptic encephalopathy, 13
GUncertain significance
SCG3
(E51G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SCG3
(D73G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SCG3
(S97P)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SCG3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
SCG3
(T111S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SCG3
(D121H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SCG3
(S122C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SCG3
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
SCG3
Insertion
(intron variant)
Schizophrenia
GUncertain significance
SCG3
(G143E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SCG3
(A166T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SCG3
(L180F)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SCG3
(S217G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SCG3
(T231A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SCG3
(M1K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SCG3
(A2V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCG3
(D14E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC121530581, SCG3
(N279D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCG3
(I307T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCG3
(T86K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCG3
(T107N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCG3
(S127L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCG3
(H131Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SCG3
(G163E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMOD2, USP50
+43 more
Copy number loss
not provided
GPathogenic
CYP19A1, DMXL2
+6 more
Copy number gain
not provided
GUncertain significance
AP4E1, ARPP19
+21 more
Duplication
not provided
GUncertain significance
AP4E1, ARPP19
+18 more
Deletion
Spastic paraplegia
GPathogenic
ADAM10, ALDH1A2
+81 more
Copy number gain
not provided
GPathogenic
CEP152, COPS2
+52 more
Copy number loss
not specified
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
AP4E1, ARPP19
+35 more
Copy number loss
not provided
GPathogenic
LEO1, TMOD3
+14 more
Copy number loss
not provided
GLikely pathogenic
AP4E1, ARPP19
+47 more
Copy number gain
not provided
GPathogenic
BCL2L10, DMXL2
+9 more
Copy number loss
not provided
GUncertain significance
AP4E1, ARPP19
+24 more
Copy number loss
not provided
GUncertain significance
ADAM10, ALDH1A2
+76 more
Copy number gain
not provided
GPathogenic
LYSMD2, ARPP19
+36 more
Copy number gain
not provided
GPathogenic
AP4E1, ARPP19
+76 more
Copy number loss
not provided
GPathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
ADAL, AFG2B
+107 more
Copy number loss
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
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