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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862863, LOC126862864
+536 more
Copy number gain
See cases
GLikely pathogenic
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
ACP5, ANGPTL8
+434 more
Copy number loss
See cases
GPathogenic
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP5, BEST2
+261 more
Copy number loss
See cases
GPathogenic
LOC112543445, LOC112543446
+355 more
Copy number loss
See cases
GPathogenic
LOC129391074, LOC130063625
+351 more
Copy number gain
See cases
GPathogenic
ADGRE2, ADGRE3
+318 more
Copy number loss
See cases
GPathogenic
HOOK2, JUNB
+1 more
(F9S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HOOK2, JUNB
(D13E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HOOK2, JUNB
(A55D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HOOK2, JUNB
(S67T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HOOK2, JUNB
(L80F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HOOK2, JUNB
+1 more
(V152L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HOOK2, JUNB
+1 more
(A161T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HOOK2, JUNB
+1 more
(A161V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HOOK2, JUNB
+1 more
(P165A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HOOK2, JUNB
+1 more
(P169S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HOOK2, JUNB
+1 more
(G170R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
JUNB
(P221S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
JUNB
(P227S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
JUNB
(M329L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BEST2, CACNA1A
+29 more
Duplication
Episodic ataxia type 2
+1 more
GUncertain significance
BEST2, CACNA1A
+32 more
Deletion
Episodic ataxia type 2
+1 more
GPathogenic
MIR199A1, ODAD3
+87 more
Copy number loss
not specified
GPathogenic
BEST2, CACNA1A
+39 more
Copy number gain
not provided
GLikely pathogenic
ACP5, ANGPTL8
+68 more
Duplication
not provided
GUncertain significance
ACP5, ANGPTL8
+81 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate B
+4 more
GUncertain significance
BEST2, CACNA1A
+29 more
Deletion
Developmental and epileptic encephalopathy, 42
+3 more
GPathogenic
BEST2, BRME1
+45 more
Copy number loss
not provided
GPathogenic
BEST2, CACNA1A
+38 more
Copy number loss
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ACP5, ADGRE5
+82 more
Copy number gain
See cases
GUncertain significance
ADGRE5, ADGRL1
+64 more
Copy number loss
See cases
GPathogenic
ADGRL1, ANGPTL6
+153 more
Copy number gain
See cases
GPathogenic
BEST2, CACNA1A
+41 more
Copy number loss
See cases
GPathogenic
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