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Items: 1 to 100 of 285

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001767, LOC130001768
+1006 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+270 more
Copy number loss
See cases
GPathogenic
LOC130001516, LOC130001517
+217 more
Copy number loss
See cases
GPathogenic
LOC124210612, LOC124210613
+3786 more
Copy number gain
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+1214 more
Copy number gain
See cases
GPathogenic
LOC121331326, LOC121331327
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860737, LOC126860738
+3786 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001680, LOC130001681
+1062 more
Copy number gain
See cases
GPathogenic
LOC124210611, LOC124210612
+1120 more
Copy number gain
See cases
GPathogenic
LOC110121197, LOC110121234
+3786 more
Copy number gain
See cases
GPathogenic
LOC121331342, LOC121331343
+3786 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
LOC130001484, LOC130001485
+883 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+223 more
Copy number loss
See cases
GPathogenic
LOC130001854, LOC130001855
+1367 more
Copy number gain
See cases
GPathogenic
LOC113839542, LOC113839543
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001517, LOC130001518
+484 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3786 more
Copy number gain
See cases
GPathogenic
LOC130001502, LOC130001503
+233 more
Deletion
Chromosome 9p deletion syndrome
GPathogenic
AK3, BRD10
+271 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+228 more
Copy number loss
See cases
GPathogenic
LOC130001526, LOC130001527
+247 more
Copy number loss
See cases
GPathogenic
LOC130001462, LOC130001463
+183 more
Copy number loss
See cases
GPathogenic
ACER2, ADAMTSL1
+458 more
Copy number gain
See cases
GPathogenic
LOC130001585, LOC130001586
+984 more
Copy number gain
See cases
GPathogenic
LOC130001507, LOC130001508
+899 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+582 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+230 more
Copy number loss
See cases
GPathogenic
AK3, CD274
+155 more
Copy number loss
See cases
GPathogenic
LOC130001746, LOC130001747
+980 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+215 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+256 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+224 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number gain
See cases
GPathogenic
AK3, CD274
+155 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
SNORD137, SPATA6L
+303 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+899 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
SMARCA2, SNAPC3
+290 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+232 more
Copy number loss
See cases
GPathogenic
LOC130001441, LOC130001442
+215 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+230 more
Copy number loss
See cases
GPathogenic
LOC130001522, LOC130001523
+297 more
Copy number loss
See cases
GPathogenic
LOC130002189, LOC130002190
+3786 more
Copy number gain
See cases
GPathogenic
RCL1, RFX3
+230 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+230 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+539 more
Copy number gain
See cases
GPathogenic
LOC130001520, LOC130001521
+410 more
Copy number gain
See cases
GPathogenic
SPATA31F3, SPATA31G1
+898 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+255 more
Copy number loss
See cases
GPathogenic
ANKRD18B, APTX
+899 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+217 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+233 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+179 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+252 more
Copy number loss
See cases
GPathogenic
LOC130001455, LOC130001456
+280 more
Copy number loss
See cases
GPathogenic
AK3, BRD10
+213 more
Copy number loss
See cases
GPathogenic
LOC105375972, LOC105375976
+295 more
Copy number loss
See cases
GPathogenic
LOC121331319, LOC121740737
+222 more
Copy number loss
See cases
GPathogenic
ACER2, ACO1
+894 more
Copy number gain
See cases
GPathogenic
LOC124210609, LOC124210610
+210 more
Copy number loss
See cases
GPathogenic
ADAMTSL1, AK3
+292 more
Copy number loss
See cases
GPathogenic
LOC130001490, LOC130001491
+172 more
Copy number loss
See cases
GPathogenic
SLC1A1, SLC24A2
+461 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+273 more
Copy number loss
See cases
GPathogenic
CDKN2B, CDKN2B-AS1
+412 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+204 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+153 more
Copy number gain
See cases
GPathogenic
AK3, BRD10
+144 more
Copy number loss
See cases
GPathogenic
LOC126860594, LOC126860595
+355 more
Copy number gain
See cases
GPathogenic
CD274, ERMP1
+44 more
Duplication
not provided
GUncertain significance
LOC130001516, RIC1
(H24L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIC1
Deletion
(intron variant)
RIC1-related disorder
GLikely benign
RIC1
Indel
(inframe_indel)
Catifa syndrome
GUncertain significance
RIC1
(P59R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIC1
(S63P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIC1
(F92I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIC1
(P107R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIC1
(Q115H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIC1
(M135I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIC1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
RIC1
Single nucleotide variant
(intron variant)
Catifa syndrome
+1 more
GBenign
RIC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RIC1
(R176K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RIC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RIC1
(T202I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RIC1
(N223S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIC1
(S235N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIC1
(V250D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIC1
(V258I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIC1
(R263Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIC1
(R263P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RIC1
Single nucleotide variant
(intron variant)
Catifa syndrome
+1 more
GBenign
RIC1
(S282I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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