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Items: 50

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
AP4M1, ARPC1A
+125 more
Copy number gain
See cases
GLikely benign
ACHE, ACTL6B
+228 more
Copy number loss
See cases
GPathogenic
ZNF789
(G7E)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
ZNF789
(M1T +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
ZNF789
(R22I +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF789
(P58L +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF394, ZNF789
(E103A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(H113D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(H113R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(S129T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(R152S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(K180E +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(R126I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(F129L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(G235R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(D166N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(A270T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(H180R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(Q304P +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(A304S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(R229W +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(P243S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(T360M +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(C364Y +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF394, ZNF789
(W313R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF789, ZNF394
(I396T +3 more)
Single nucleotide variant
(missense 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
ATP5MF, ATP5MF-PTCD1
+5 more
Copy number loss
not provided
GUncertain significance
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
+75 more
Deletion
not provided
GUncertain significance
AP4M1, ARPC1A
+39 more
Copy number gain
not provided
GUncertain significance
ATP5MF-PTCD1, AZGP1
+127 more
Copy number gain
Isolated Pierre-Robin syndrome
+1 more
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
ARPC1A, ARPC1B
+16 more
Copy number loss
not provided
GUncertain significance
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
CYP3A43, GJC3
+99 more
Copy number loss
not provided
GPathogenic
CYP3A4, TAC1
+65 more
Copy number loss
Split hand-foot malformation 1
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
ATP5MF-PTCD1, BUD31
+10 more
Copy number gain
See cases
GUncertain significance
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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