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Items: 1 to 100 of 286

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057816, LOC130057817
+1763 more
Copy number gain
See cases
GPathogenic
LOC121530589, LOC121530590
+487 more
Copy number loss
See cases
GPathogenic
ABHD17C, ABHD2
+1244 more
Copy number gain
See cases
GPathogenic
ACSBG1, ADAMTS7
+175 more
Copy number loss
See cases
GPathogenic
ACSBG1, CIB2
+46 more
Copy number gain
See cases
GUncertain significance
IDH3A
Single nucleotide variant
not provided
GBenign
IDH3A, LOC130057684
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IDH3A, LOC130057684
(G3V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A, LOC130057684
(P4S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A, LOC130057684
(P4L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A, LOC130057684
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IDH3A, LOC130057684
(A5S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IDH3A, LOC130057684
(W6*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
IDH3A, LOC130057684
(I7T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A, LOC130057684
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IDH3A, LOC130057684
Single nucleotide variant
(synonymous variant)
not provided
GBenign
IDH3A, LOC130057684
(K9R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A, LOC130057684
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
IDH3A, LOC130057684
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
IDH3A, LOC130057684
Duplication
(intron variant)
not provided
GLikely benign
IDH3A, LOC130057684
Indel
(intron variant)
not provided
GLikely benign
IDH3A, LOC130057684
Duplication
(intron variant)
not provided
GLikely benign
IDH3A, LOC130057684
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130057684, IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A, LOC130057684
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A, LOC130057684
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A, LOC130057684
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A, LOC130057684
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A, LOC130057684
Single nucleotide variant
(intron variant)
not provided
GBenign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GBenign
IDH3A
(R12P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
(R12Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
(A16fs)
Deletion
(frameshift variant)
not provided
GPathogenic
IDH3A
(T28fs)
Duplication
(frameshift variant)
not provided
GPathogenic
IDH3A
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
IDH3A
Deletion
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GBenign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GBenign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
IDH3A
(V31F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
(L36V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IDH3A
(A48P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
(A48G)
Indel
(missense variant)
not provided
GUncertain significance
IDH3A
(M51V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
(K52N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IDH3A
(A57P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GBenign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GBenign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
(I61L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
(Q62L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IDH3A
(R66Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IDH3A
(I71V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
(I71F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
(Q72P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IDH3A
(M88T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
(K90E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
IDH3A
(K92Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
(M93I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IDH3A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Duplication
(intron variant)
not provided
GUncertain significance
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GBenign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
IDH3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IDH3A
(I103V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
(A104V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IDH3A
(G106S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IDH3A
(M110T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IDH3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IDH3A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IDH3A
(A122T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 90
+1 more
GConflicting classifications of pathogenicity
IDH3A
(A122V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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