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Items: 73

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ABHD8, ADGRE2
+695 more
Copy number gain
See cases
GPathogenic
ABHD8, AKAP8
+574 more
Copy number gain
See cases
GPathogenic
LOC130064154, LOC130064155
+625 more
Copy number gain
See cases
GPathogenic
SUGP2
(G1070R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(D1011N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(A1005T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(R1005H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(R991C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(R996Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(G959V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(G926S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SUGP2
(G923A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(D922N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(A912V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(G902R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(D896N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(P892L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(E891K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(T872M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(T871A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(V795I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(M785T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(M782V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(S768L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(S764I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(L741P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(R715Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(R698C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(R694W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(R665Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(R639W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(P614R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(R595P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(P593L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(S572G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(E548K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(K546R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(E518D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(D464H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(L459H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(I385V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(T354A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(D334N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(I333V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
LOC126862878, SUGP2
(D331E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(S329N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(R311G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(R322Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(P276L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(I255K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(L216V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(R214Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(R189Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(E185D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(E182K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(G174E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(R132C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(R140Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(C107R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(S96R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(R62S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(E66D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
LOC126862878, SUGP2
(R48I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC126862878, SUGP2
(L42I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(Q50L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SUGP2
(T24A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARMC6, ATP13A1
+36 more
Copy number loss
not specified
GUncertain significance
ISYNA1, JAK3
+44 more
Duplication
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
GUncertain significance
ARMC6, BORCS8
+13 more
Deletion
Progressive myoclonic epilepsy type 8
GUncertain significance
BST2, NWD1
+158 more
Copy number gain
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
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