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Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIK3C2B, PKP1
+1147 more
Copy number gain
See cases
GPathogenic
LOC129388734, LOC129388735
+723 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1427 more
Copy number gain
See cases
GPathogenic
LOC126806029, LOC129932471
+720 more
Copy number loss
Orofacial cleft 2
Gassociation
OR2M4, OR2M5
+1351 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1325 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1167 more
Copy number gain
See cases
GPathogenic
ACBD3, ACBD3-AS1
+287 more
Copy number loss
See cases
GPathogenic
LOC129932646, LOC129932647
+967 more
Copy number gain
See cases
GPathogenic
CAPN2, CNIH3
+40 more
Copy number loss
See cases
GUncertain significance
LOC129932948, LOC129932949
+954 more
Copy number gain
See cases
GPathogenic
LOC129932666, LOC129932667
+954 more
Copy number gain
See cases
GPathogenic
CNIH3, CNIH3-AS1
+43 more
Copy number loss
See cases
GUncertain significance
LOC128772241, LOC128772242
+952 more
Copy number gain
See cases
GPathogenic
SCCPDH, SDCCAG8
+951 more
Copy number gain
See cases
GPathogenic
LOC129932613, LOC129932614
+949 more
Copy number gain
See cases
GPathogenic
FBXO28, LOC129932579
Single nucleotide variant
(5 prime UTR variant +1 more)
FBXO28-related disorder
GLikely benign
FBXO28, LOC129932579
(A5K)
Indel
(missense variant +1 more)
Developmental and epileptic encephalopathy 100
GUncertain significance
FBXO28, LOC129932579
(A5G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FBXO28, LOC129932579
(E7V)
Single nucleotide variant
(missense variant +1 more)
FBXO28-related disorder
GUncertain significance
FBXO28, LOC129932579
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBXO28, LOC129932579
(G15A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FBXO28
(G21D)
Single nucleotide variant
(missense variant +1 more)
FBXO28-related disorder
GUncertain significance
FBXO28
(T29S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FBXO28
(P33S)
Single nucleotide variant
(missense variant +1 more)
FBXO28-related developmental and epileptic encephalopathy
GUncertain significance
FBXO28
(L64R)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy 100
GPathogenic
FBXO28
(I84T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FBXO28
(Q86H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FBXO28
(N133S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FBXO28
Single nucleotide variant
(intron variant)
FBXO28-related disorder
GUncertain significance
FBXO28
(R179H)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
FBXO28
(N185D)
Single nucleotide variant
(missense variant +2 more)
FBXO28-related disorder
GUncertain significance
FBXO28
(N185S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FBXO28
(P190L)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FBXO28
(I215V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
FBXO28
(S235P)
Single nucleotide variant
(missense variant +2 more)
FBXO28-associated epileptic encephalopathy
GUncertain significance
FBXO28
(S235C)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FBXO28
(P237S)
Single nucleotide variant
(missense variant +2 more)
FBXO28-related disorder
GLikely benign
FBXO28
(L177P)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GLikely benign
FBXO28
(L278I)
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
FBXO28
(R280H)
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
FBXO28
(R325fs)
Indel
(3 prime UTR variant +2 more)
Developmental and epileptic encephalopathy 100
GPathogenic
FBXO28
(G337E)
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
FBXO28
(G339fs)
Indel
(3 prime UTR variant +2 more)
Developmental and epileptic encephalopathy 100
GPathogenic
FBXO28
(P345S)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GUncertain significance
FBXO28
(R348G)
Single nucleotide variant
(3 prime UTR variant +2 more)
Developmental and epileptic encephalopathy 100
GPathogenic
FBXO28
(R348L)
Single nucleotide variant
(3 prime UTR variant +2 more)
See cases
+2 more
GConflicting classifications of pathogenicity
FBXO28
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
FBXO28
(D356fs)
Deletion
(3 prime UTR variant +2 more)
Developmental and epileptic encephalopathy 100
GPathogenic
FBXO28
(L358fs)
Deletion
(3 prime UTR variant +2 more)
not provided
GLikely pathogenic
FBXO28
(K360*)
Single nucleotide variant
(3 prime UTR variant +2 more)
Developmental and epileptic encephalopathy 100
GPathogenic
ACBD3, AIDA
+53 more
Copy number loss
not provided
GPathogenic
ABCB10, ACBD3
+113 more
Copy number gain
not provided
Gnot provided
ABCB10, ACBD3
+185 more
Copy number gain
not provided
GPathogenic
AIDA, BROX
+21 more
Copy number loss
not provided
GUncertain significance
ABCB10, ACBD3
+381 more
Copy number gain
See cases
GPathogenic
ACBD3, AIDA
+38 more
Copy number gain
not specified
GPathogenic
CA14, CACNA1E
+956 more
Duplication
Gastrointestinal stromal tumor
+2 more
GUncertain significance
FBXO28, NVL
+7 more
Copy number loss
Global developmental delay
GPathogenic
TLR5, DEGS1
+16 more
Copy number loss
not provided
GPathogenic
CHML, CHRM3
+250 more
Copy number gain
See cases
GPathogenic
C1orf35, C1orf74
+320 more
Copy number gain
See cases
GPathogenic
FBXO28, ACBD3
+83 more
Copy number loss
not provided
GPathogenic
PSEN2, FBXO28
+42 more
Copy number loss
not provided
GPathogenic
CCDC185, NTPCR
+127 more
Copy number gain
not provided
GPathogenic
DEGS1, FBXO28
Copy number loss
not provided
GUncertain significance
CAPN9, CATSPERE
+433 more
Copy number gain
not provided
GPathogenic
CNIH3, CNIH4
+5 more
Copy number loss
not provided
GPathogenic
FBXO28, DEGS1
Copy number loss
not provided
GUncertain significance
H2BC26, H3-3A
+213 more
Copy number gain
not provided
GPathogenic
BCAS2, CNTN2
+2014 more
Copy number gain
See cases
GPathogenic
FAM76A, FAM78B
+2014 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+184 more
Copy number gain
See cases
GPathogenic
EGLN1, EIF2D
+393 more
Copy number gain
See cases
GPathogenic
ACBD3, ADIPOR1
+242 more
Copy number gain
See cases
GPathogenic
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