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Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTR1B, ADRA2B
+331 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+550 more
Copy number gain
See cases
GPathogenic
LOC129934355, LOC129934356
+348 more
Copy number gain
See cases
GPathogenic
ACTR1B, ADRA2B
+207 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+126 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+131 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+127 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+120 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+119 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+119 more
Copy number loss
See cases
GPathogenic
ADRA2B, ANKRD23
+126 more
Copy number loss
See cases
GPathogenic
LOC129934346, LOC129934347
+125 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+119 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+115 more
Deletion
Schizophrenia
GLikely pathogenic
ADRA2B, ANKRD23
+121 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+123 more
Copy number gain
See cases
GLikely benign
KANSL3, LMAN2L
+123 more
Copy number loss
See cases
GPathogenic
ADRA2B, ANKRD23
+114 more
Copy number loss
See cases
GPathogenic
ADRA2B, ANKRD23
+120 more
Copy number loss
See cases
GUncertain significance
ADRA2B, ANKRD23
+121 more
Copy number loss
See cases
GPathogenic
ADRA2B, ANKRD23
+121 more
Copy number gain
See cases
GUncertain significance
ANKRD39
(R178Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(P172S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(A167G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(L166V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(R165W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(R162Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(A155G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(P154A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(L149R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(S147F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(D129N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(R114W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(A113V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(A100T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(G96R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(D61E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39
(S37L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39, LOC129934372
(H15Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39, LOC129934372
(C13S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39, LOC129934372
(G10R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD39, LOC129934372
(D9G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADRA2B, ANKRD23
+21 more
Copy number loss
not provided
GUncertain significance
ADRA2B, ANKRD23
+20 more
Copy number gain
not specified
GUncertain significance
ADRA2B, ANKRD23
+19 more
Copy number loss
not provided
GPathogenic
ACTR1B, ADRA2B
+27 more
Copy number gain
not provided
GUncertain significance
ADRA2B, ANKRD23
+17 more
Copy number gain
not provided
GUncertain significance
ACTR1B, ADRA2B
+64 more
Copy number gain
not provided
GLikely pathogenic
ADRA2B, ANKRD23
+20 more
Deletion
not provided
GUncertain significance
ACTR1B, ADRA2B
+54 more
Copy number gain
not provided
GLikely pathogenic
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ADRA2B, ANKRD23
+21 more
Copy number gain
not provided
GUncertain significance
CIAO1, CNNM3
+19 more
Copy number loss
Cleft lip
+1 more
GPathogenic
ANKRD36B, ANKRD39
+20 more
Deletion
Intellectual disability
GPathogenic
ADRA2B, ANKRD23
+19 more
Copy number gain
not provided
GUncertain significance
ASTL, CIAO1
+20 more
Copy number loss
not provided
GUncertain significance
ARID5A, ASTL
+22 more
Copy number gain
not provided
GUncertain significance
CIAO1, CNNM3
+20 more
Copy number gain
See cases
GUncertain significance
CNNM3, CNNM4
+20 more
Copy number loss
See cases
GLikely pathogenic
CNNM3, FAM178B
+8 more
Duplication
not provided
GUncertain significance
ADRA2B, ANKRD23
+19 more
Copy number gain
not provided
GUncertain significance
ADRA2B, ANKRD23
+20 more
Copy number loss
not provided
GLikely pathogenic
ADRA2B, ANKRD23
+21 more
Copy number loss
not provided
GPathogenic
ASTL, CIAO1
+21 more
Copy number gain
not provided
GUncertain significance
ADRA2B, ANKRD23
+20 more
Copy number loss
See cases
GLikely pathogenic
C2orf15, C2orf49
+122 more
Copy number gain
not provided
GPathogenic
ADRA2B, ANKRD23
+22 more
Copy number loss
not provided
GUncertain significance
ADRA2B, ANKRD23
+20 more
Copy number loss
not provided
GLikely pathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
ADRA2B, ANKRD23
+21 more
Copy number gain
See cases
GLikely pathogenic
ACTR1B, ADRA2B
+86 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+20 more
Copy number loss
See cases
GUncertain significance
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ADRA2B, ANKRD23
+20 more
Copy number gain
See cases
GLikely benign
ADRA2B, ANKRD23
+21 more
Copy number loss
See cases
GUncertain significance
ACTR1B, ADRA2B
+88 more
Copy number gain
See cases
GPathogenic
ADRA2B, ANKRD23
+18 more
Copy number gain
See cases
GUncertain significance
ADRA2B, ANKRD23
+19 more
Copy number gain
See cases
GUncertain significance
AFF3, ADRA2B
+53 more
Copy number gain
See cases
GPathogenic
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