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Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
LOC130056651, LOC130056652
+1423 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1204 more
Copy number gain
See cases
GPathogenic
LOC130056392, LOC130056393
+1073 more
Copy number gain
See cases
GPathogenic
ASB2, ATXN3
+201 more
Copy number loss
See cases
GPathogenic
IGHD5-18, IGHD5-24
+881 more
Copy number gain
See cases
GPathogenic
LOC130056359, LOC130056360
+663 more
Copy number gain
See cases
GPathogenic
GOLGA5, LGMN
+9 more
Copy number gain
See cases
GUncertain significance
GOLGA5
(I35V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(T40I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(Y54D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(Q55H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(R105T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(F110L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(V111L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(K169R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(N174H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(N174S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(N201K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(H211P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(G219S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GOLGA5
(N242H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(Q256R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
GOLGA5
(R318C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(R318H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(Q334R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(T349S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(S367N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(E374K)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
GOLGA5
(A377T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(R378H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(R386H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(L395V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(Q412H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(Y431H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(G452A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(E480V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(G487V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(E495K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(E565K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(T575A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(R590Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(Q618E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(Q618K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(N646S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GOLGA5
(N665S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(S684R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(I696L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(I703M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(T720P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOLGA5
(H725D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHGA, GOLGA5
+1 more
Copy number gain
not provided
GUncertain significance
IFI27L1, IGHA2
+182 more
Copy number gain
not provided
GPathogenic
CCNK, MIR376A1
+353 more
Copy number gain
not provided
GPathogenic
ASB2, ATXN3
+48 more
Copy number loss
not provided
GPathogenic
SYNE3, TC2N
+66 more
Duplication
not provided
GUncertain significance
ASB2, ATXN3
+42 more
Duplication
Achondrogenesis, type IA
GUncertain significance
ADSS1, AHNAK2
+185 more
Copy number gain
not provided
GPathogenic
OTUB2, PAPOLA
+80 more
Copy number gain
not provided
GLikely pathogenic
AREL1, ARF6
+447 more
Copy number gain
See cases
GPathogenic
ASB2, ATXN3
+50 more
Copy number loss
not specified
GPathogenic
SERPINA10, SERPINA11
+74 more
Copy number loss
Deletion syndrome
GPathogenic
ATXN3, BAG5
+164 more
Copy number gain
not provided
GPathogenic
AK7, ASB2
+74 more
Copy number loss
not provided
GPathogenic
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
ABCD4, ACOT1
+261 more
Copy number gain
See cases
GPathogenic
CHGA, GOLGA5
+3 more
Copy number gain
See cases
GUncertain significance
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
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