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Links from Gene

Items: 46

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AKAP5, ZBTB25
(Q172R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(D217H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(L228V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(G226E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(T235R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(S348R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(K96Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(A78S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(A46S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(M335V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCNK, MIR376A1
+353 more
Copy number gain
not provided
GPathogenic
ACTR10, AKAP5
+71 more
Copy number gain
not provided
GLikely pathogenic
AKAP5, ZBTB25
(H220P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(Q166P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(R91M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(K16N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(L391F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(Q258E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(K326Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(P107S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(V373I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(S281N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(G379S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(A173P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(K42Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(L250P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(I210F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(Q166H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(A56V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(P128L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZBTB25, AKAP5
(V10I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AKAP5, ZBTB25
(R76L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AREL1, ARF6
+447 more
Copy number gain
See cases
GPathogenic
AKAP5, CHURC1
+16 more
Copy number gain
See cases
GUncertain significance
ISCA2, TMEM30B
+158 more
Copy number gain
14q22.2q24.3 duplication
GLikely pathogenic
FNTB, AKAP5
+29 more
Copy number gain
not provided
GLikely pathogenic
AKAP5, ZBTB25
(E314K)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
AKAP5, ZBTB25
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
AKAP5, ZBTB25
(R188Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
AKAP5, CHURC1
+130 more
Copy number loss
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
ACTR10, AKAP5
+344 more
Copy number loss
See cases
GPathogenic
LOC132090233, LOC132090234
+264 more
Copy number loss
See cases
GPathogenic
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