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Items: 69

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
ANKRD54, APOL1
+293 more
Copy number loss
See cases
GPathogenic
LOC130067651, LOC130067652
+1004 more
Copy number gain
See cases
GPathogenic
ANKRD54, APOBEC3A
+177 more
Copy number loss
See cases
GPathogenic
ANKRD54, BAIAP2L2
+122 more
Copy number loss
See cases
GPathogenic
LOC130067459, LOC130067460
+273 more
Copy number gain
See cases
GPathogenic
ANKRD54, C22orf23
+17 more
Copy number loss
Waardenburg syndrome type 4C
GPathogenic
GCAT, LOC130067392
(P3S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT, LOC130067392
(P3L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(V60A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(G65E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(V70A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GCAT
(L77F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GCAT
(H85L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GCAT
(F89L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GCAT
(I93S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(Q90H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(F121I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(F95S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(C160G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(C134F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(H159Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(R167W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(R193Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(H172Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(R175C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(R201L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(D180N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(M181I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(D183N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(I211M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(A261D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(F238I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(V256A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(N286T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(G264W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(G273C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(T301M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(R286Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(P317A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(A327G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(V303I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(D337Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(V320G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(R357Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(R387H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(R369S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(R387Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(R403C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GCAT
(R413Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANKRD54, BAIAP2L2
+50 more
Deletion
Infantile neuroaxonal dystrophy
+2 more
GConflicting classifications of pathogenicity
ANKRD54, BAIAP2L2
+29 more
Deletion
not provided
GPathogenic
ACO2, ADSL
+132 more
Duplication
Adenylosuccinate lyase deficiency
GUncertain significance
ANKRD54, C22orf23
+9 more
Copy number loss
not specified
GLikely pathogenic
ANKRD54, C22orf23
+13 more
Copy number loss
Waardenburg syndrome type 2E
GPathogenic
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
SH3BP1, CSNK1E
+25 more
Copy number loss
not provided
GPathogenic
CERK, CHADL
+271 more
Copy number gain
not provided
GPathogenic
TUBA8, TUBGCP6
+435 more
Copy number gain
not provided
GPathogenic
ANKRD54, APOBEC3A
+76 more
Copy number gain
See cases
GLikely pathogenic
ANKRD54, BAIAP2L2
+31 more
Copy number loss
See cases
GPathogenic
ANKRD54, BAIAP2L2
+41 more
Copy number loss
See cases
GPathogenic
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
A4GALT, ACO2
+438 more
Copy number gain
See cases
GPathogenic
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