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Links from Gene

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNOT8
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
CNOT8
(S118R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNOT8
(N125I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNOT8
(L71I)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CNOT8
(I51V)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CNOT8
(Q113E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNOT8
(K226R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNOT8
(A231V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CNOT8
(S18G)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ADAM19, ADRA1B
+98 more
Copy number gain
not provided
GPathogenic
ADAM19, ADAMTS2
+222 more
Copy number gain
Hunter-McAlpine craniosynostosis
GPathogenic
FAXDC2, CNOT8
+3 more
Copy number loss
not provided
GUncertain significance
CNOT8, FAXDC2
+8 more
Copy number loss
not provided
GUncertain significance
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
ADAM19, ADRA1B
+295 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
ADAM19, ADRA1B
+280 more
Copy number loss
See cases
GPathogenic
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
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