U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
ATXN1, ATXN1-AS1
+162 more
Copy number gain
See cases
GUncertain significance
RNF144B
(Y9C)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RNF144B
(E15G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(P17S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(P24L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RNF144B
(K31T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(M42V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(C50Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(G70R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(T74I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(L114V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(Y117C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(R118Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(V164I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(S165P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(A188T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(R202C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(T217I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(N242S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(A249E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(R255Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(V263I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF144B
(R292Q)
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
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
ATXN1, CAP2
+27 more
Copy number loss
See cases
GPathogenic
TPMT, NHLRC1
+5 more
Copy number gain
See cases
GUncertain significance
STMND1, SYCP2L
+95 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination