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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL17RA, LINC01640
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067403, LOC130067404
+2088 more
Copy number gain
See cases
GPathogenic
LOC130067651, LOC130067652
+1004 more
Copy number gain
See cases
GPathogenic
LOC130067596, LOC130067597
+687 more
Copy number gain
See cases
GPathogenic
ACO2, CCDC134
+109 more
Copy number gain
See cases
GPathogenic
LOC130067562, LOC130067566
+78 more
Deletion
Immunodeficiency, common variable, 4
GUncertain significance
CSDC2
(T6M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSDC2
(P13L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSDC2
(E30K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSDC2
(R33S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSDC2
(G39S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CSDC2
(R43W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSDC2
(R43Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSDC2
(R55T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSDC2
(H82Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSDC2
(S99F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSDC2
(D111G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACO2, CCDC134
+29 more
Copy number loss
not provided
GUncertain significance
A4GALT, ACO2
+106 more
Copy number gain
not specified
GPathogenic
ACO2, ADSL
+25 more
Copy number gain
Syndromic craniosynostosis
GLikely pathogenic
ACO2, ADSL
+132 more
Duplication
Adenylosuccinate lyase deficiency
GUncertain significance
ATP5MGL, CCDC134
+38 more
Duplication
Immunodeficiency, common variable, 4
GUncertain significance
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
MEI1, MIR33A
+14 more
Copy number loss
not provided
GUncertain significance
ACO2, PMM1
+4 more
Copy number loss
not provided
GUncertain significance
A4GALT, ACO2
+126 more
Copy number gain
not provided
GPathogenic
CERK, CHADL
+271 more
Copy number gain
not provided
GPathogenic
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
NDUFA6, WBP2NL
+21 more
Copy number gain
not provided
GLikely pathogenic
ACO2, CCDC134
+22 more
Copy number gain
See cases
GUncertain significance
ANKRD54, AP1B1
+435 more
Copy number gain
See cases
GPathogenic
NEFH, NF2
+435 more
Copy number gain
See cases
GPathogenic
ZNF280A, ZNF280B
+438 more
Copy number gain
See cases
GPathogenic
SMARCB1, SMC1B
+438 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+223 more
Copy number gain
See cases
GPathogenic
ADM2, A4GALT
+128 more
Copy number gain
See cases
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
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