U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CRACR2B
(V178A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B, LOC130005100
(E208Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(D10N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(G47S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(R27Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ANO9, AP2A2
+77 more
Duplication
Beckwith-Wiedemann syndrome
GUncertain significance
CRACR2B
(S127C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(A104E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(G97E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(C89S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(A45V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD151, CEND1
+10 more
Copy number loss
not specified
GUncertain significance
CARS1, CD151
+89 more
Copy number gain
not provided
GPathogenic
CRACR2B
(A184D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(G25R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANO9, AP2A2
+210 more
Copy number gain
Russell-Silver syndrome
GPathogenic
CRACR2B
(P26L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(A34P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AP2A2, ART1
+65 more
Duplication
not provided
GUncertain significance
CRACR2B
(A156T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(R27W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(E270K)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GUncertain significance
CRACR2B
(Q67L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(R193P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(P26R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(F38S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(E20K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(H271R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(Q165H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(E32K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(E130A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(L31V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(V121M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CRACR2B
(L31P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GATD1, IRF7
+52 more
Copy number gain
not provided
GPathogenic
CAVIN3, CCKBR
+205 more
Copy number gain
not provided
GPathogenic
CYP2R1, DBX1
+308 more
Copy number gain
See cases
GPathogenic
CD151, CEND1
+10 more
Duplication
not provided
GUncertain significance
AP2A2, CD151
+15 more
Copy number gain
not provided
GUncertain significance
IFITM5, SIGIRR
+137 more
Copy number gain
not provided
Gnot provided
ANO9, AP2A2
+89 more
Duplication
Early infantile epileptic encephalopathy with suppression bursts
GUncertain significance
AP2A2, BRSK2
+45 more
Duplication
Immunodeficiency 39
+1 more
GUncertain significance
ANO9, AP2A2
+109 more
Copy number gain
See cases
GPathogenic
CHRNA10, CNGA4
+208 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
ANO9, AP2A2
+43 more
Copy number gain
not provided
GUncertain significance
C11orf21, AP2A2
+63 more
Duplication
Neuronal ceroid lipofuscinosis
GUncertain significance
CALCB, CARS1
+343 more
Copy number gain
not provided
GPathogenic
CD151, CRACR2B
+2 more
Copy number loss
not provided
GUncertain significance
AP2A2, CD151
+11 more
Copy number gain
not provided
GUncertain significance
C11orf40, C11orf42
+243 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
ADM, AKIP1
+258 more
Copy number gain
not provided
GPathogenic
AKIP1, ANO9
+222 more
Copy number gain
not provided
GPathogenic
DEAF1, DENND2B
+327 more
Copy number gain
See cases
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ASCL3, CEND1
+305 more
Copy number gain
See cases
GPathogenic
ART5, CCDC34
+364 more
Copy number gain
See cases
GPathogenic
OR51G2, OR51L1
+132 more
Copy number gain
See cases
GPathogenic
TMEM80, CRACR2B
+9 more
Copy number gain
See cases
GUncertain significance
ANO9, AP2A2
+204 more
Copy number gain
See cases
GPathogenic
A-GAMMA3'E, ANO9
+388 more
Copy number gain
See cases
GPathogenic
DENND5A, DNHD1
+723 more
Copy number gain
See cases
GPathogenic
TRIM22, TRIM3
+917 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+266 more
Copy number gain
See cases
GPathogenic
AP2A2, BRSK2
+115 more
Copy number loss
See cases
GPathogenic
ANO9, AP2A2
+271 more
Copy number gain
See cases
GPathogenic
LOC130005164, LOC130005165
+332 more
Copy number gain
See cases
GPathogenic
ASCL2, BGLT3
+328 more
Deletion
Thalassemia, gamma-delta-beta
GPathogenic
Format
Items per page
Sort by
Choose Destination