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Items: 80

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1380 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1176 more
Copy number gain
See cases
GPathogenic
PRKAG2, PRKAG2-AS1
+1052 more
Copy number gain
See cases
GPathogenic
LOC129389895, LOC129389896
+1046 more
Copy number gain
See cases
GPathogenic
TRBV27, TRBV28
+1025 more
Copy number gain
See cases
GPathogenic
OR2A2, OR2A25
+1025 more
Copy number gain
See cases
GPathogenic
TRC-GCA9-3, TRC-GCA9-4
+1019 more
Copy number gain
See cases
GPathogenic
LOC129999635, LOC129999636
+944 more
Copy number loss
See cases
GPathogenic
TRBC2, TRBD1
+455 more
Copy number loss
See cases
GPathogenic
ADCK2, AGK
+373 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+908 more
Copy number gain
See cases
GPathogenic
EPHA1-AS1, EPHB6
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABCB8, ABCF2
+692 more
Copy number gain
See cases
GPathogenic
LOC129999716, LOC129999717
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
TRBC1, TRBC2
+230 more
Copy number gain
See cases
GUncertain significance
ABCB8, ABCF2
+737 more
Copy number loss
See cases
GPathogenic
AGK, AGK-DT
+192 more
Copy number gain
See cases
GPathogenic
WEE2, WEE2-AS1
(Y18H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(E21V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(E23D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(S37L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
WEE2, WEE2-AS1
(T54S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(P55S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
Single nucleotide variant
(synonymous variant)
WEE2-related disorder
GLikely benign
WEE2, WEE2-AS1
(S70L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2-AS1, WEE2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
WEE2, WEE2-AS1
(E75fs)
Microsatellite
(frameshift variant)
Oocyte maturation defect 5
+1 more
GPathogenic
WEE2, WEE2-AS1
(E93Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(A96V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
Single nucleotide variant
(synonymous variant)
WEE2-related disorder
GLikely benign
WEE2, WEE2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
WEE2-related disorder
GLikely benign
WEE2, WEE2-AS1
(Y163H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Oocyte maturation defect 5
GUncertain significance
WEE2, WEE2-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
WEE2, WEE2-AS1
(E182Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(A194D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(R200*)
Single nucleotide variant
(nonsense)
Oocyte maturation defect 5
GPathogenic
WEE2, WEE2-AS1
(R200Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(R232K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(D234H)
Single nucleotide variant
(missense variant)
Oocyte maturation defect 5
GPathogenic
WEE2, WEE2-AS1
(I240T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(R242C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(R242H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(S255L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
WEE2, WEE2-AS1
Single nucleotide variant
(synonymous variant)
WEE2-related disorder
GBenign
WEE2, WEE2-AS1
(Y276C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(Q288*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
WEE2, WEE2-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
WEE2, WEE2-AS1
(A300V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(H310N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(M335T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
WEE2, WEE2-AS1
(H349Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
WEE2, WEE2-AS1
(K350R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
WEE2, WEE2-AS1
(G357R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
WEE2, WEE2-AS1
(F369S)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
WEE2, WEE2-AS1
(G379D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(A384T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
Single nucleotide variant
(synonymous variant)
Oocyte maturation defect 5
GPathogenic
WEE2, WEE2-AS1
(R410W)
Single nucleotide variant
(missense variant)
Oocyte maturation defect 5
GPathogenic
WEE2, WEE2-AS1
(P413A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(I417T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
WEE2, WEE2-AS1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
WEE2, WEE2-AS1
(V451I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
WEE2, WEE2-AS1
(E454Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(E472K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
WEE2, WEE2-AS1
(N483K)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
WEE2, WEE2-AS1
(R487W)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
WEE2, WEE2-AS1
(T493fs)
Duplication
(frameshift variant)
Oocyte maturation defect 5
GPathogenic
WEE2, WEE2-AS1
(T509R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
Single nucleotide variant
(intron variant)
WEE2-related disorder
GLikely benign
WEE2, WEE2-AS1
(Q519E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(P523T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(G525V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(Y526D)
Single nucleotide variant
(missense variant)
not provided
GBenign
WEE2, WEE2-AS1
(R542S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(S543T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(K545E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WEE2, WEE2-AS1
(R563C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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