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Items: 32

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
ALKBH6
(R149G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALKBH6
(N131T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALKBH6
(G105D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALKBH6
(R167C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALKBH6
(P148H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALKBH6
(D146N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH6
(G160R)
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
ALKBH6
(R73W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH6
(D136N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH6
(E115K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ALKBH6
(L95P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH6
(F92S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ALKBH6
(G18D)
Single nucleotide variant
(5 prime UTR variant +1 more)
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
ALKBH6, APLP1
+28 more
Copy number gain
not provided
GUncertain significance
ACP7, ACTMAP
+255 more
Copy number gain
Specific learning disability
GPathogenic
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
ALKBH6, CLIP3
+3 more
Copy number gain
See cases
GLikely benign
SIPA1L3, ALKBH6
+41 more
Copy number gain
See cases
GUncertain significance
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