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Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
BRD8, C5orf15
+230 more
Copy number loss
See cases
GPathogenic
BRD8, CDC23
+236 more
Copy number gain
See cases
GPathogenic
ECSCR, EGR1
+224 more
Copy number gain
See cases
GPathogenic
CDC23, CDC25C
+49 more
Copy number gain
See cases
GUncertain significance
CDC25C
(L466P +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(R418W +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(S468G +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(K368R +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(M362V +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(P378T +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(G380D +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(N365S +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(D352N +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(R358H +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(E382G +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(V363I +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(F282C +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(V252M +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25C
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDC25C
(A248V +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CDC25C
(Y245C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(K233R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(P172L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(S171F +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(R135K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(D158A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(Q113P +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(R153H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CDC25C
(Q194E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25C
(S92W +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CDC25C
(S78N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(E112Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(R43M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDC25C
(T26A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BRD8, CDC23
+29 more
Deletion
STING-associated vasculopathy with onset in infancy
GUncertain significance
ANKHD1, ANKHD1-EIF4EBP3
+53 more
Duplication
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
GUncertain significance
AFF4, BRD8
+53 more
Copy number loss
not specified
GPathogenic
BRD8, CDC23
+13 more
Copy number loss
Neurodevelopmental delay
+1 more
GPathogenic
PCDHB1, PCDHB10
+116 more
Duplication
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
CDC25C, CDC42SE2
+385 more
Deletion
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
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