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Items: 51

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
TMEM161A
(R423C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(L344F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(L417F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(T405A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(L305P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(P381A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(L245Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(L237P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(S210F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(P194L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(I185T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(L175Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(S260L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(R151Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(V204L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(V229M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(R125C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(E193K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM161A
(E165D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
TMEM161A
(R163W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM161A
(G164V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM161A
(G139R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM161A
(E138D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM161A
(A136T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM161A
(R156W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM161A
(T130I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM161A
(Y124H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM161A
(V116M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM161A
(G115S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM161A
(V92M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(F82Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(P81L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(A65S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(E62G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(A52V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(L31V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(W30G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TMEM161A
(L13F)
Single nucleotide variant
(missense variant)
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
BORCS8, HAPLN4
+9 more
Copy number gain
not provided
GUncertain significance
ARMC6, BORCS8
+13 more
Deletion
Progressive myoclonic epilepsy type 8
GUncertain significance
BST2, NWD1
+158 more
Copy number gain
not provided
GPathogenic
BORCS8, HAPLN4
+8 more
Copy number gain
not provided
GUncertain significance
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ATP13A1, BORCS8
+49 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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