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Items: 98

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
STARD7
(R366Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
STARD7
(A248S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
STARD7
(D212H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(W204R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(R300H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(T195M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(R173H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(R173C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(M271I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(S165fs +1 more)
Deletion
(frameshift variant)
STARD7-related disorder
GUncertain significance
STARD7
(V161I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(M243I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(P121L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(S208C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(K190R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(N181S +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial adult myoclonic, 2
+1 more
GUncertain significance
STARD7
(T170A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(R155H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(K50N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(R140C +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial adult myoclonic, 2
GUncertain significance
STARD7
(K137R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(P121S +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, familial adult myoclonic, 2
GUncertain significance
STARD7
(M10T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
(N110D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STARD7
Microsatellite
Epilepsy, familial adult myoclonic, 2
GPathogenic
STARD7
Microsatellite
Epilepsy, familial adult myoclonic, 2
GPathogenic
STARD7
(E87K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STARD7
(D86H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
STARD7
(A78V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129934328, STARD7
(G59C)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial adult myoclonic, 2
GUncertain significance
LOC129934328, STARD7
(Y49C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129934328, STARD7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC129934328, STARD7
(Q26R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
LOC129934328, STARD7
(L20P)
Single nucleotide variant
(missense variant +1 more)
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, ASTL
+4 more
Deletion
Pheochromocytoma
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
ADRA2B, ANKRD36C
+7 more
Copy number gain
not provided
GUncertain significance
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ADRA2B, ARID5A
+12 more
Duplication
not provided
GUncertain significance
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
ADRA2B, ASTL
+6 more
Duplication
not provided
GUncertain significance
ADRA2B, ASTL
+5 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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