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Links from Gene

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADTRP
(V124L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP
(Q26R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP
(R187S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP
(D83E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP
(G59V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP
(R55G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADTRP
(Y45F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP, BLOC1S5
+73 more
Copy number gain
not provided
GPathogenic
ADTRP, LOC129995769
(M222T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP, LOC129995769
(K245R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP
(H10R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP
(I137N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP, LOC126859589
(S224I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP
(I8T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP
(V143I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADTRP
(T55I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP, ATXN1
+89 more
Copy number gain
See cases
GPathogenic
ADTRP, EDN1
+47 more
Duplication
not specified
GUncertain significance
RBM24, RNF182
+35 more
Copy number gain
not specified
GLikely pathogenic
ADTRP, ATXN1
+95 more
Copy number gain
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
ADTRP, TMEM170B
Copy number loss
See cases
GUncertain significance
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
ADTRP, ATXN1
+51 more
Copy number loss
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
LOC129995681, LOC129995682
+643 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+617 more
Copy number loss
See cases
GPathogenic
ADTRP, C6orf52
+154 more
Copy number loss
See cases
GPathogenic
ADTRP, ATXN1
+779 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
LOC129995677, LOC129995678
+331 more
Copy number loss
See cases
GPathogenic
LOC129995802, LOC129995803
+573 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+537 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+825 more
Copy number gain
See cases
GPathogenic
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