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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AHNAK, ASRGL1
+110 more
Copy number gain
See cases
GPathogenic
AHNAK, B3GAT3
+105 more
Copy number gain
See cases
GPathogenic
AHNAK, B3GAT3
+95 more
Copy number gain
See cases
GPathogenic
B3GAT3, BSCL2
+70 more
Copy number gain
See cases
GUncertain significance
UBXN1
(G302E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBXN1
(S203R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBXN1
(E190Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
UBXN1
(R233G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBXN1
(R231Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBXN1
(R172W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBXN1
(C214S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBXN1
(E210K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBXN1
(I168M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBXN1
(R92L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBXN1
(T95A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBXN1
(G82V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBXN1
Microsatellite
(intron variant)
not provided
GLikely benign
UBXN1
(T65S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBXN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
UBXN1
(M40T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
UBXN1
(G31A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBXN1
(G28E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBXN1
(A23V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130005848, UBXN1
(L7V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BSCL2, LBHD1
+3 more
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
ACTN3, ACY3
+343 more
Copy number gain
not specified
GLikely pathogenic
AHNAK, APLNR
+225 more
Copy number gain
not specified
GLikely pathogenic
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
AHNAK, ARL2
+182 more
Duplication
Leukocyte adhesion deficiency 3
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
B3GAT3, BSCL2
+8 more
Duplication
Larsen-like syndrome, B3GAT3 type
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
CD5, CD6
+58 more
Copy number gain
not provided
GUncertain significance
B3GAT3, BSCL2
+36 more
Copy number gain
not provided
GUncertain significance
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
AHNAK, ASRGL1
+47 more
Copy number loss
See cases
GLikely pathogenic
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