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
LOC129936421, LOC129936422
+962 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC132088948, LOC132088950
+730 more
Copy number gain
See cases
GPathogenic
ARPP21, ARPP21-AS1
+87 more
Copy number loss
See cases
GPathogenic
ARPP21, ARPP21-AS1
+54 more
Copy number loss
See cases
GPathogenic
FBXL2, UBP1
(G464V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL2, UBP1
(L490I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL2, UBP1
(S455G +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FBXL2, UBP1
(S405R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL2, UBP1
(R436W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL2, UBP1
(T369A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL2, UBP1
(G325S +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FBXL2, UBP1
(H315R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL2, UBP1
(S297F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL2, UBP1
(S297P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL2, UBP1
(P291T +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FBXL2, UBP1
(I270V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL2, UBP1
(K233R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL2, UBP1
(T160R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL2, UBP1
(I151T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL2, UBP1
(N99I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBP1
(P63R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBP1
(L23F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
UBP1
(S13A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD28, ARL8B
+145 more
Copy number gain
not provided
GPathogenic
OXTR, PDCD6IP
+145 more
Copy number gain
not specified
GPathogenic
CCR4, CLASP2
+13 more
Copy number gain
not provided
GUncertain significance
CCR4, CLASP2
+9 more
Copy number gain
not specified
GUncertain significance
FANCD2OS, THUMPD3
+148 more
Copy number gain
not specified
GPathogenic
ACAA1, ACVR2B
+93 more
Deletion
not provided
GPathogenic
ABHD5, ACAA1
+135 more
Copy number gain
not provided
GPathogenic
ANKRD28, APRG1
+155 more
Copy number gain
See cases
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
TRIM71, TRNT1
+145 more
Copy number gain
See cases
GPathogenic
CCR4, CLASP2
+20 more
Copy number loss
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination