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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
EFCAB14, EFCAB14-AS1
(Y456F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14, EFCAB14-AS1
(P427R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14, EFCAB14-AS1
(K410E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14, EFCAB14-AS1
(A393T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14, EFCAB14-AS1
(E391G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14, EFCAB14-AS1
(S378G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14, EFCAB14-AS1
(K373R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14, EFCAB14-AS1
(K359R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14, EFCAB14-AS1
(M295I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14, EFCAB14-AS1
(L290F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14, EFCAB14-AS1
(D255H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14, EFCAB14-AS1
(M230V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14, EFCAB14-AS1
(D217V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14, EFCAB14-AS1
(L207I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
EFCAB14
(G190E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14
(I152V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14
(V150L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14
(A87V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14
(Y65C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14
(N56K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14
(V54A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14
(P37L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14
(T34P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14
(R33L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EFCAB14
(K23R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGBL4, AKR1A1
+58 more
Copy number loss
not specified
GLikely pathogenic
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
UQCRH, DMBX1
+9 more
Copy number gain
See cases
GUncertain significance
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ATPAF1, CYP4B1
+10 more
Copy number gain
See cases
GUncertain significance
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