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Items: 1 to 100 of 221

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCL9, LINC00623
+213 more
Copy number gain
See cases
GPathogenic
ACP6, ANKRD34A
+178 more
Copy number loss
See cases
GPathogenic
LOC129931352, LOC129931353
+183 more
Copy number loss
See cases
GPathogenic
ACP6, ANKRD34A
+179 more
Copy number loss
See cases
GPathogenic
ACP6, ANKRD34A
+178 more
Copy number gain
See cases
GPathogenic
LOC126805854, LOC128071544
+179 more
Copy number loss
See cases
GPathogenic
ACP6, ANKRD34A
+168 more
Copy number gain
See cases
GPathogenic
ACP6, ANKRD34A
+153 more
Copy number loss
See cases
GLikely pathogenic
ACP6, ANKRD34A
+153 more
Copy number loss
See cases
GPathogenic
LOC126805853, LOC126805854
+153 more
Copy number gain
See cases
GPathogenic
ACP6, ANKRD34A
+153 more
Copy number gain
See cases
GPathogenic
ACP6, ANKRD34A
+153 more
Copy number gain
See cases
GPathogenic
ACP6, ANKRD34A
+153 more
Copy number gain
See cases
GPathogenic
ANKRD34A, ANKRD35
+73 more
Copy number loss
See cases
GBenign
ACP6, ANKRD34A
+143 more
Copy number loss
See cases
GPathogenic
ACP6, ANKRD34A
+143 more
Copy number loss
See cases
GPathogenic
ACP6, ANKRD34A
+143 more
Copy number gain
See cases
GPathogenic
ACP6, ANKRD34A
+143 more
Copy number gain
See cases
GPathogenic
ACP6, ANKRD34A
+143 more
Copy number gain
See cases
GPathogenic
ACP6, ANKRD34A
+143 more
Copy number loss
See cases
GPathogenic
LOC101927468, LOC106783502
+143 more
Copy number loss
See cases
GPathogenic
ACP6, ANKRD34A
+143 more
Copy number gain
See cases
GPathogenic
LOC129931329, LOC129931330
+143 more
Copy number gain
See cases
GPathogenic
ACP6, ANKRD34A
+143 more
Copy number gain
See cases
GPathogenic
ACP6, ANKRD34A
+129 more
Copy number gain
See cases
GPathogenic
ACP6, ANKRD34A
+136 more
Copy number loss
See cases
GPathogenic
ACP6, ANKRD34A
+143 more
Copy number gain
See cases
GPathogenic
MIR5087, MIR6077
+143 more
Copy number loss
See cases
GPathogenic
ACP6, ANKRD34A
+143 more
Copy number gain
See cases
GPathogenic/Likely pathogenic
ACP6, ANKRD34A
+133 more
Copy number gain
See cases
GPathogenic
LOC101927468, LOC106783502
+133 more
Copy number gain
See cases
GPathogenic
ANKRD34A, ANKRD35
+61 more
Copy number loss
See cases
GPathogenic
ANKRD34A, ANKRD35
+67 more
Copy number loss
See cases
GPathogenic
ANKRD34A, ANKRD35
+61 more
Copy number gain
See cases
GUncertain significance
ANKRD34A, ANKRD35
+61 more
Copy number gain
See cases
GUncertain significance
ACP6, ANKRD34A
+129 more
Copy number gain
See cases
GPathogenic
RNVU1-6, RNVU1-7
+118 more
Deletion
Schizophrenia
GPathogenic
LOC129931347, LOC129931348
+104 more
Deletion
Schizophrenia
GPathogenic
ANKRD34A, ANKRD35
+66 more
Copy number gain
See cases
GConflicting classifications of pathogenicity
ACP6, ANKRD34A
+115 more
Copy number loss
See cases
GPathogenic
ACP6, ANKRD34A
+130 more
Deletion
Schizophrenia
GPathogenic
ACP6, ANKRD34A
+127 more
Duplication
Schizophrenia
GLikely pathogenic
LOC129931348, LOC129931349
+52 more
Duplication
Schizophrenia
GLikely pathogenic
ANKRD34A, ANKRD35
+52 more
Deletion
Schizophrenia
GLikely pathogenic
ANKRD34A, ANKRD35
+52 more
Duplication
Schizophrenia
GLikely pathogenic
GPR89B, LOC129931326
+123 more
Deletion
Radial aplasia-thrombocytopenia syndrome
GLikely pathogenic
ANKRD34A, ANKRD35
+43 more
Copy number gain
See cases
GUncertain significance
ANKRD34A, ANKRD35
+55 more
Copy number loss
See cases
GLikely pathogenic
ANKRD34A, ANKRD35
+54 more
Copy number loss
See cases
GLikely benign
ACP6, ANKRD34A
+123 more
Copy number loss
See cases
GPathogenic
ANKRD34A, ANKRD35
+52 more
Copy number loss
See cases
GPathogenic
ANKRD34A, ANKRD35
+44 more
Copy number loss
See cases
GPathogenic
ACP6, ANKRD34A
+123 more
Copy number loss
See cases
GPathogenic
ANKRD34A, ANKRD35
+52 more
Copy number loss
See cases
GPathogenic
ANKRD34A, ANKRD35
+61 more
Copy number gain
See cases
GPathogenic
ANKRD34A, ANKRD35
+61 more
Copy number gain
See cases
GPathogenic
ANKRD34A, ANKRD35
+61 more
Copy number loss
See cases
GPathogenic
ANKRD34A, ANKRD35
+43 more
Copy number gain
See cases
GUncertain significance
ANKRD34A, ANKRD35
+54 more
Copy number loss
See cases
GUncertain significance
ANKRD34A, ANKRD35
+50 more
Copy number loss
See cases
GPathogenic
ANKRD34A, ANKRD35
+42 more
Copy number loss
See cases
GPathogenic
ANKRD34A, ANKRD35
+42 more
Copy number loss
See cases
GUncertain significance
ANKRD34A, ANKRD35
+42 more
Copy number gain
See cases
Gconflicting data from submitters
ANKRD34A, ANKRD35
+41 more
Copy number loss
See cases
GPathogenic
ANKRD34A, ANKRD35
+50 more
Copy number loss
See cases
GPathogenic
ANKRD34A, ANKRD35
+35 more
Copy number gain
See cases
GUncertain significance
ANKRD34A, ANKRD35
+41 more
Copy number gain
See cases
GBenign
ANKRD34A, ANKRD35
+41 more
Copy number loss
See cases
GPathogenic
ANKRD34A, ANKRD35
+50 more
Copy number loss
See cases
GUncertain significance
TXNIP, ANKRD34A
+42 more
Copy number loss
See cases
GLikely pathogenic
ANKRD34A, ANKRD35
+49 more
Copy number loss
See cases
GPathogenic
ANKRD34A, ANKRD35
+53 more
Copy number gain
See cases
GPathogenic
ANKRD34A, ANKRD35
+52 more
Copy number gain
See cases
GLikely pathogenic
ANKRD34A, ANKRD35
+40 more
Copy number loss
See cases
GUncertain significance
ANKRD34A, ANKRD35
+47 more
Copy number loss
Radial aplasia-thrombocytopenia syndrome
GPathogenic
POLR3GL
Single nucleotide variant
(splice acceptor variant)
POLR3GL-related disorder
GPathogenic
POLR3GL
(M1T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
POLR3GL
(G9D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR3GL
(R12Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR3GL
(R79W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR3GL
(R79Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR3GL
(R89H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
POLR3GL
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
POLR3GL
(I104L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129931343, POLR3GL
Single nucleotide variant
(splice acceptor variant)
Short stature, oligodontia, dysmorphic facies, and motor delay
+4 more
GPathogenic/Likely pathogenic
LOC129931343, POLR3GL
(R88Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129931343, POLR3GL
(R89C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129931343, POLR3GL
(R92Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129931343, POLR3GL
(R120* +1 more)
Single nucleotide variant
(nonsense)
POLR3GL-related disorder
GPathogenic
POLR3GL
(R122Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR3GL
(E145K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR3GL
(E135K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR3GL
(E167G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR3GL
(E145D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR3GL
(E151K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR3GL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
POLR3GL
(N178S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD34A, ANKRD35
+14 more
Copy number loss
not provided
GPathogenic
ANKRD34A, ANKRD35
+14 more
Copy number gain
not provided
GUncertain significance
ACP6, ANKRD34A
+35 more
Copy number gain
See cases
GPathogenic
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