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Items: 1 to 100 of 789

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2CL, AMIGO3
+379 more
Copy number gain
See cases
GPathogenic
ATRIP, CCDC51
Single nucleotide variant
not provided
GBenign
ATRIP, CCDC51
Single nucleotide variant
not provided
GBenign
ATRIP, LOC129936703
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
ATRIP, ATRIP-TREX1
+1 more
(G8S)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(S9R)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
LOC129936703, ATRIP
+1 more
(S9I)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(S9R)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(R11T)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(R11K)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(R12W)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(S13N)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(P22Q)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(G27E)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
+1 more
(S31fs)
Duplication
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(P29A)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GBenign
ATRIP, ATRIP-TREX1
+1 more
(P43T)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(H52R)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(D58E)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(E61K)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
+1 more
(L66F)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(S68L)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(Q73*)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
(P75R)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
(R79W)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
Deletion
(intron variant)
not provided
GBenign
ATRIP, ATRIP-TREX1
Single nucleotide variant
(intron variant)
not provided
GBenign
ATRIP, ATRIP-TREX1
(P98L +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(V13I +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(N111I +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GBenign
ATRIP, ATRIP-TREX1
(E20K +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(A119T +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
(K125Q +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GBenign
ATRIP, ATRIP-TREX1
Single nucleotide variant
(intron variant)
not provided
GBenign
ATRIP, ATRIP-TREX1
(M35T +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
ATRIP, ATRIP-TREX1
(E41del +2 more)
Microsatellite
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(E133G +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(S148L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
(L156V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(H70R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(L165V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(Q45R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(A173V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
(E198A +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ATRIP, ATRIP-TREX1
(R211* +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(R118Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
(L215P +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
Deletion
(intron variant)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
Single nucleotide variant
(intron variant)
not provided
GBenign
ATRIP, ATRIP-TREX1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
(R133K +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(K134E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(S137P +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
(P108L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
(P113L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
(F149L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(S153F +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ATRIP-TREX1, ATRIP
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
(N163D +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ATRIP, ATRIP-TREX1
(S165P +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(H168Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
Single nucleotide variant
(splice donor variant)
Seckel syndrome
GPathogenic
ATRIP, ATRIP-TREX1
(S185T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
(F170V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
(L321S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(L205F +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ATRIP, ATRIP-TREX1
(S334R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(P340L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(T343N +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
Deletion
(intron variant)
not provided
GUncertain significance
ATRIP, ATRIP-TREX1
(G229R +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
(S265L +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GUncertain significance
ATRIP, ATRIP-TREX1
(T362P +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ATRIP, ATRIP-TREX1
(T235S +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ATRIP, ATRIP-TREX1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ATRIP, ATRIP-TREX1
(D367H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ATRIP, ATRIP-TREX1
(D274N +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
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