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Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADTRP, ATXN1
+825 more
Copy number gain
See cases
GPathogenic
LOC129995681, LOC129995682
+643 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+779 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+612 more
Copy number loss
See cases
GPathogenic
LOC129995778, LOC129995779
+559 more
Copy number gain
See cases
GLikely pathogenic
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
SLC35B3, SMIM13
+510 more
Copy number gain
See cases
GLikely pathogenic
LOC129995802, LOC129995803
+573 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+537 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+617 more
Copy number loss
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
LOC129995677, LOC129995678
+331 more
Copy number loss
See cases
GPathogenic
ADTRP, C6orf52
+154 more
Copy number loss
See cases
GPathogenic
ERVFRD-1, SMIM13
(G488V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(I269T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(I262T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(L257S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(R234Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(A225V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(A210G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(F207S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(S199L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(R191W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(L185W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(P175S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(G134V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(I125T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(N116S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(R104C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(W78G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(A70V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(S61L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(R18H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SMIM13
(L33V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMIM13
(S67F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMIM13
(A76P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMIM13
(R77H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMIM13
(A81G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMIM13
(G86A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP, BLOC1S5
+73 more
Copy number gain
not provided
GPathogenic
ADTRP, ATXN1
+89 more
Copy number gain
See cases
GPathogenic
RBM24, RNF182
+35 more
Copy number gain
not specified
GLikely pathogenic
ADTRP, ATXN1
+95 more
Copy number gain
not provided
GPathogenic
BLOC1S5, BMP6
+23 more
Copy number loss
not provided
GPathogenic
ADTRP, ATXN1
+93 more
Copy number gain
not provided
GPathogenic
ADTRP, BLOC1S5
+66 more
Copy number gain
not provided
GPathogenic
ADTRP, ATXN1
+95 more
Duplication
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
STMND1, SYCP2L
+95 more
Copy number gain
See cases
GPathogenic
BLOC1S5, BMP6
+60 more
Copy number loss
See cases
GPathogenic
ADTRP, ATXN1
+51 more
Copy number loss
See cases
GPathogenic
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