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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC130008692, LOC130008693
+316 more
Copy number loss
See cases
GPathogenic
CCDC63, LOC126861639
(D13Y)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CCDC63, LOC126861639
(P15S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CCDC63, LOC126861639
(E30D)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CCDC63, LOC126861639
(R11Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC63
(E22A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC63
(S43L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(A144V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(R148W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(T119N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(L123P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(F147Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC63
(K128E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(M210K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(M155R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(M155I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(R197C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(R158H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(L310M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(T259M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(T301M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(T301R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(M268I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(D280E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(L307Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(G322A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(Q352P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(T399I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(I450S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(R386C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(G431E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(P404T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(P422S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(P429H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC63
(S507N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABTB3, ACACB
+74 more
Copy number loss
not specified
GLikely pathogenic
ABTB3, ACACB
+73 more
Copy number loss
not provided
GPathogenic
ABTB3, ACACB
+60 more
Copy number loss
not provided
GPathogenic
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
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