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Links from Gene

Items: 1 to 100 of 108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OR4E2, TRA
(N42S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(Y123H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(V294L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(S156L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(L71F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(L221V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(I267T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(S224P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(E83G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(N297K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(V252A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(P25Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(I233R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(D196Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(R170C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(A156T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(G113S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRA, OR10G2
(P84L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(L44P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD12B, ABHD4
+289 more
Copy number gain
not provided
GPathogenic
OR4E1, TRA
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
OR10G2, TRA
(P92S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(I37V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OR4E2, TRA
(F27I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(K310R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(Y223H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(R21L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(P284A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRA, TRAV19
Single nucleotide variant
Keratoconus
GUncertain significance
TRA, TRAV19
Single nucleotide variant
Keratoconus
GUncertain significance
OR4E2, TRA
(I117T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(L27I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(V22M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(D15A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(P280A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(R241Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(R21W)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OR10G2, TRA
(T82I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OR4E2, TRA
(S64G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(R233H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(K5N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(R226Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(L237V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(Y223C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(R62C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(L304P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(Y258C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(I97T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(Q305K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(T14R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(S209F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(G157S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(S8L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(M219T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OR4E2, TRA
(N134S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(V13L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(A193S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(S64T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR10G2, TRA
(V12M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(T52A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR4E2, TRA
(T309M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OR10G2, TRA
(I40N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABHD4, ANG
+52 more
Copy number loss
not provided
GPathogenic
ABHD4, ACIN1
+197 more
Copy number gain
Seizure
GPathogenic
DHRS1, NYNRIN
+190 more
Deletion
Brain-lung-thyroid syndrome
GPathogenic
PRMT5, PSMB11
+60 more
Copy number gain
14q11.2 microduplication
GLikely pathogenic
ABHD4, DAD1
+5 more
Deletion
not provided
GUncertain significance
AKAP6, MDP1
+187 more
Copy number gain
not provided
Gnot provided
TOX4, ARHGEF40
+29 more
Copy number gain
not provided
GLikely pathogenic
OR10G3, OXA1L
+33 more
Copy number loss
not provided
GPathogenic
ABHD4, ACIN1
+187 more
Copy number gain
not provided
GPathogenic
CHD8, HNRNPC
+10 more
Copy number gain
not provided
GUncertain significance
SLC22A17, SLC7A7
+47 more
Copy number gain
not provided
GLikely pathogenic
ARHGEF40, BCL2L2
+152 more
Copy number gain
not provided
GPathogenic
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
OR5AU1, OR6S1
+164 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+149 more
Copy number gain
See cases
GPathogenic
TRA
Deletion
Large for gestational age
Gnot provided
TRA
Deletion
Normal pregnancy
Gnot provided
OR10G2, OR10G3
+859 more
Copy number gain
See cases
GPathogenic
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
LOC121838587, LOC130055288
+27 more
Copy number gain
See cases
GLikely benign
LOC121838587, LOC130055288
+37 more
Copy number gain
See cases
GLikely benign
LOC121838587, LOC130055288
+25 more
Copy number gain
See cases
GLikely benign
LOC121838587, LOC130055288
+30 more
Copy number gain
See cases
GLikely benign
ABHD4, ARHGEF40
+242 more
Copy number gain
See cases
GUncertain significance
LOC121838587, LOC130055288
+33 more
Copy number gain
See cases
GLikely benign
LOC121838587, LOC130055288
+32 more
Copy number gain
See cases
GBenign
LOC121838587, LOC130055288
+21 more
Copy number gain
See cases
GLikely benign
LOC121838587, LOC130055288
+27 more
Copy number gain
See cases
GLikely benign
LOC130055289, LOC130055290
+15 more
Copy number loss
See cases
GLikely benign
LOC121838587, LOC130055288
+22 more
Copy number gain
See cases
GBenign/Likely benign
TRA, TRAV26-2
+12 more
Copy number gain
See cases
GBenign
LOC124958010, LOC124958011
+529 more
Copy number gain
See cases
GLikely pathogenic
LOC112214171, LOC126861891
+44 more
Copy number loss
See cases
GBenign
LOC112214171, LOC121838587
+74 more
Copy number loss
See cases
GBenign
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
LOC121838587, LOC130055288
+35 more
Copy number loss
See cases
GBenign
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