U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 40

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
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
ADTRP, EDN1
+47 more
Duplication
not specified
GUncertain significance
ADTRP, LOC129995769
(K245R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP, LOC129995769
(M222T +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
(R187S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP
(V143I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ADTRP
(I137N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP
(V124L +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
(T55I +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
(Q26R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP
(H10R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADTRP
(I8T)
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
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
Format
Items per page
Sort by
Choose Destination