U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AAMDC, ACER3
+355 more
Copy number loss
See cases
GPathogenic
LOC130006570, LOC130006571
+474 more
Copy number loss
See cases
GPathogenic
AQP11
(P3S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP11
(R8G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP11
(R8P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP11
(M21I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP11
(R41G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP11
Single nucleotide variant
(synonymous variant)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
AQP11
(V88L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP11
(P100L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AQP11
(L129M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP11
(Q145P)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AQP11
(Q145H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
AQP11
(S152R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP11
(P158A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP11
(P158S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AQP11
(V172I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AQP11
(A180T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP11
(E186K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP11
(F202L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP11
(Y205H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP11
(G207A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP11
(W221C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AAMDC, ALG8
+11 more
Copy number gain
not provided
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
AQP11, CLNS1A
+1 more
Copy number gain
not provided
GUncertain significance
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
PAK1, AQP11
+5 more
Copy number gain
not provided
GUncertain significance
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination