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Links from Gene

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FIS1
(K149Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIS1
(S45R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACHE, ACTL6B
+93 more
Copy number loss
not specified
GLikely pathogenic
ACHE, AP1S1
+20 more
Copy number loss
not specified
GPathogenic
CYP3A4, CYP3A43
+73 more
Copy number loss
not provided
GPathogenic
CLDN15, COL26A1
+4 more
Copy number gain
not provided
GUncertain significance
AP1S1, CLDN15
+13 more
Copy number gain
not provided
GUncertain significance
FIS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
FIS1
(K16R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIS1
(N48S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIS1
(R83W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIS1
(E24D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIS1
(A137V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIS1
(K53R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FIS1
(V79A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ALKBH4, ANKRD7
+95 more
Copy number loss
not specified
GPathogenic
ACHE, ACTL6B
+123 more
Copy number loss
not specified
GPathogenic
FIS1
Microsatellite
not provided
GUncertain significance
FIS1
Single nucleotide variant
not provided
GUncertain significance
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
COL26A1, CUX1
+3 more
Copy number loss
See cases
GUncertain significance
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
ACHE, ACTL6B
+283 more
Copy number gain
See cases
GUncertain significance
AP1S1, CLDN15
+23 more
Copy number gain
See cases
GBenign
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
ACHE, ACTL6B
+310 more
Copy number loss
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
ACHE, ACTL6B
+207 more
Copy number loss
See cases
GPathogenic
ACHE, ACTL6B
+300 more
Copy number gain
See cases
GPathogenic
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