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Items: 71

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
ACHE, ACTL6B
+300 more
Copy number gain
See cases
GPathogenic
ACTL6B, AGFG2
+230 more
Copy number loss
Multiple congenital anomalies/dysmorphic syndrome
GPathogenic
ACHE, ACTL6B
+310 more
Copy number loss
See cases
GPathogenic
ACHE, ACTL6B
+228 more
Copy number loss
See cases
GPathogenic
ACHE, ACTL6B
+283 more
Copy number gain
See cases
GUncertain significance
ACHE, ACTL6B
+207 more
Copy number loss
See cases
GPathogenic
FBXO24
(V6D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24
(R13W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(R9L)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(R9P)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GLikely benign
FBXO24, PCOLCE-AS1
(G11R)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(Q12R)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(S21N)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(G24W)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(G45R)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GLikely benign
FBXO24, PCOLCE-AS1
(R46Q)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(S61L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(L79F +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(P82Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(R55H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
FBXO24, PCOLCE-AS1
(E76D +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(R136Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(R108H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(R125C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(G167S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(W159R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(R214L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(R164H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(F187C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(P229A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(V234I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(P197L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(Y227C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(V273A +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(T274M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(S283F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(V303L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(D334N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(P338L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(I366T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(G387R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(R435P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(G441D +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(R430H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(V492I +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(K493N +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(D499E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(G501R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(G513E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(F556S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
FBXO24, PCOLCE-AS1
(M562V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACHE, ACTL6B
+106 more
Deletion
not provided
GPathogenic
ACHE, ACTL6B
+93 more
Copy number loss
not specified
GLikely pathogenic
CYP3A4, CYP3A43
+73 more
Copy number loss
not provided
GPathogenic
ACHE, ACTL6B
+79 more
Duplication
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ACHE, ACTL6B
+123 more
Copy number loss
not specified
GPathogenic
ACHE, ACTL6B
+75 more
Deletion
not provided
GUncertain significance
ATP5MF-PTCD1, AZGP1
+127 more
Copy number gain
Isolated Pierre-Robin syndrome
+1 more
GPathogenic
ACHE, ACTL6B
+77 more
Copy number loss
See cases
GLikely pathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
CYP3A43, GJC3
+99 more
Copy number loss
not provided
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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