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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD66, C6orf201
+2580 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
ID4
(G19S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID4
(A24V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID4
(S34C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID4
(L35R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID4
(A42T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID4
(A45V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID4
(R49C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID4
(K87T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID4
(P118A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID4
(A122G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID4
(T130I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ID4
(D146A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP, ATXN1
+89 more
Copy number gain
See cases
GPathogenic
ATXN1, CAP2
+32 more
Copy number loss
not provided
GPathogenic
ATXN1, CAP2
+21 more
Copy number loss
not provided
GPathogenic
ADTRP, ATXN1
+95 more
Copy number gain
not provided
GPathogenic
ADTRP, ATXN1
+93 more
Copy number gain
not provided
GPathogenic
ADTRP, ATXN1
+95 more
Duplication
not provided
GPathogenic
TAAR8, TAAR9
+1028 more
Copy number gain
See cases
GPathogenic
VPS52, VTA1
+1028 more
Copy number gain
See cases
GPathogenic
ATXN1, CAP2
+27 more
Copy number loss
See cases
GPathogenic
ID4
Copy number gain
See cases
GBenign
STMND1, SYCP2L
+95 more
Copy number gain
See cases
GPathogenic
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