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Links from Gene

Items: 1 to 100 of 128

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GLRX5
(E136G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLRX5
(A10P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLRX5
(G23S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLRX5
(R83S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLRX5
(V54G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLRX5
(S156P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLRX5
(M128V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLRX5
(A8G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLRX5
(P62R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
(E63K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IFI27L1, IGHA2
+182 more
Copy number gain
not provided
GPathogenic
CCNK, MIR376A1
+353 more
Copy number gain
not provided
GPathogenic
GLRX5
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
(V49M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLRX5
(Q75E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLRX5
(G23D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLRX5
(G81D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLRX5
(G142E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AK7, ATG2B
+17 more
Duplication
not provided
GUncertain significance
SYNE3, TC2N
+66 more
Duplication
not provided
GUncertain significance
GLRX5
(A87S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLRX5
(D84G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLRX5
(G68S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GLRX5
(R14L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GLRX5
(N115S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLRX5
(R30W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GLRX5
(G60R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLRX5
(G28R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLRX5
(P27T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
(Q127H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
(G6L)
Indel
(missense variant)
not provided
GUncertain significance
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
(S34L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
(P110L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GLRX5
(G20D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLRX5
(A9T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ADSS1, AHNAK2
+185 more
Copy number gain
not provided
GPathogenic
OTUB2, PAPOLA
+80 more
Copy number gain
not provided
GLikely pathogenic
GLRX5
(G39S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AREL1, ARF6
+447 more
Copy number gain
See cases
GPathogenic
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
(L5P)
Single nucleotide variant
(missense variant)
not provided
GBenign
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PPP4R4, SERPINA1
+24 more
Copy number gain
not specified
GUncertain significance
GLRX5
(L114F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLRX5
(R7Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLRX5
Duplication
not provided
GUncertain significance
GLRX5
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
GLRX5
(G132E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GLRX5
(A11V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AK7, ATG2B
+56 more
Copy number loss
not provided
GPathogenic
GLRX5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
GLRX5
Duplication
(intron variant)
not provided
GBenign
GLRX5
(Q66P)
Single nucleotide variant
(missense variant)
Spasticity-ataxia-gait anomalies syndrome
GPathogenic
GLRX5, SNHG10
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
GLRX5
Duplication
(intron variant)
not provided
GBenign
GLRX5
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
GLRX5
Duplication
(intron variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
not provided
GLikely benign
GLRX5
(D52N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GLRX5
(T108A)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 3
GUncertain significance
GLRX5
(N105S)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 3
+1 more
GUncertain significance
GLRX5
(M128K)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 3
GPathogenic
GLRX5
(C67Y)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 3
GPathogenic
SERPINA10, SERPINA11
+74 more
Copy number loss
Deletion syndrome
GPathogenic
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GLRX5
(P62L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ATXN3, BAG5
+164 more
Copy number gain
not provided
GPathogenic
GLRX5
Single nucleotide variant
(intron variant)
not provided
GBenign
GLRX5
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
GLRX5, SNHG10
Single nucleotide variant
(non-coding transcript variant)
not provided
GLikely benign
GLRX5
Single nucleotide variant
(intron variant)
not provided
GBenign
AK7, ASB2
+74 more
Copy number loss
not provided
GPathogenic
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
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