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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ALKBH6, ANKRD27
+459 more
Copy number loss
See cases
GPathogenic
ALKBH6, ANKRD27
+439 more
Copy number loss
See cases
GPathogenic
CAPNS1
(G16A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPNS1
(G22V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPNS1
(G30E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPNS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CAPNS1
(G54C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPNS1
(G55D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPNS1
(S67G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPNS1
Single nucleotide variant
(splice acceptor variant)
Pulmonary hypertension, primary, 6
GPathogenic
CAPNS1
(R102W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPNS1
(R102Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPNS1
(G110A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CAPNS1
(R145C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPNS1
(F69L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPNS1
(I77F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPNS1
(L209F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPNS1
(Y210C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPNS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CAPNS1
(A238T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPNS1
Single nucleotide variant
(splice donor variant)
Pulmonary hypertension, primary, 6
GPathogenic
CAPNS1
(K248R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH6, APLP1
+63 more
Copy number loss
not provided
GPathogenic
SLC7A9, SNRPA
+215 more
Copy number gain
not specified
GPathogenic
ALKBH6, CAPNS1
+11 more
Copy number gain
not specified
GUncertain significance
ALKBH6, APLP1
+18 more
Copy number gain
not provided
GUncertain significance
ALKBH6, APLP1
+72 more
Deletion
not provided
GPathogenic
ALKBH6, APLP1
+83 more
Duplication
Hereditary spastic paraplegia 75
GUncertain significance
ALKBH6, APLP1
+54 more
Deletion
Brugada syndrome 5
GUncertain significance
ACP7, ACTMAP
+255 more
Copy number gain
Specific learning disability
GPathogenic
CAPNS1, COX7A1
+4 more
Copy number gain
not provided
GUncertain significance
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
ALKBH6, APLP1
+79 more
Copy number loss
Generalized epilepsy with febrile seizures plus, type 1
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ALKBH6, APLP1
+39 more
Copy number loss
See cases
GUncertain significance
TBCB, CAPNS1
+1 more
Copy number gain
See cases
GUncertain significance
SIPA1L3, ALKBH6
+41 more
Copy number gain
See cases
GUncertain significance
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