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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006016, LOC130006017
+80 more
Copy number gain
See cases
GUncertain significance
EHBP1L1, FAM89B
+45 more
Copy number gain
See cases
GUncertain significance
PCNX3
(V77fs)
Deletion
(frameshift variant)
Moyamoya angiopathy
GLikely pathogenic
PCNX3
(N173K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCNX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCNX3
(A636T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCNX3
(Y664H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCNX3
(G720S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCNX3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCNX3
(V1008M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCNX3
(P1036L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCNX3
(H1050R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCNX3
(R1216L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCNX3
(D1379E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCNX3
(T1512M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCNX3
(H1554Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCNX3
(R1564Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCNX3
(V1734M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCNX3
(I2018V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PCNX3
(P2024R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTN3, ACY3
+343 more
Copy number gain
not specified
GLikely pathogenic
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
AP5B1, CFL1
+15 more
Deletion
Aicardi-Goutieres syndrome 3
GUncertain significance
ACTN3, ACY3
+124 more
Duplication
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
ACTN3, AP5B1
+63 more
Copy number loss
not specified
GUncertain significance
AP5B1, ARL2
+81 more
Deletion
Bardet-Biedl syndrome
+1 more
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
ATG2A, BAD
+74 more
Duplication
Ependymoma
GLikely pathogenic
ACTN3, ACY3
+94 more
Copy number gain
not provided
GPathogenic
ACTN3, ANKRD13D
+104 more
Copy number gain
See cases
GLikely pathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
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