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Links from Gene

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OR51B5, OR51Q1
(V217L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(N290Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(M120I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(S179C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(R236Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(G11D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(S110F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(F103Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(T71M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(R60H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(H58Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HBB, HBE1
+25 more
Copy number gain
See cases
GLikely benign
OR51B5, OR51Q1
(S136C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(L273V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(D193N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO9, AP2A2
+210 more
Copy number gain
Russell-Silver syndrome
GPathogenic
OR51B5, OR51Q1
(R188P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(R317G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(L306V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(N280S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(V50A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(L237F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(V33I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(N313S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(C152R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(V258A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(R52P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(T17M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(H172Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(C153F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51B5, OR51Q1
(E10D)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
OR51B5, OR51Q1
(E10G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
OR51I1, OR51I2
+5 more
Copy number loss
not provided
GUncertain significance
OR51B5, OR51B6
+11 more
Copy number loss
not provided
GUncertain significance
CAVIN3, CCKBR
+205 more
Copy number gain
not provided
GPathogenic
HBE1, OR51B2
+13 more
Copy number gain
not provided
GUncertain significance
CYP2R1, DBX1
+308 more
Copy number gain
See cases
GPathogenic
OR51B6, OR51I1
+4 more
Copy number loss
not provided
GLikely benign
IFITM5, SIGIRR
+137 more
Copy number gain
not provided
Gnot provided
CHRNA10, CNGA4
+208 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
CALCB, CARS1
+343 more
Copy number gain
not provided
GPathogenic
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
OR51B5, OR51B6
+9 more
Copy number loss
See cases
GUncertain significance
ASCL3, CEND1
+305 more
Copy number gain
See cases
GPathogenic
ART5, CCDC34
+364 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
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