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Items: 36

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
ANKRD27, CD22
+193 more
Copy number loss
See cases
GPathogenic
FXYD3
(G13R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FXYD3
(P26L)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
FXYD3
(Q44P)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
FXYD3
(R45Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
FXYD3
(P50S)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
FXYD3
(P52L)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
FXYD3
(R27L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
FXYD3
(S28F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FXYD3
(F44S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FXYD3
(A77T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FXYD3
(S28I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FXYD3
(V68F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FXYD3
(V104I +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
FXYD3
(H101Y +3 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, 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
MAG, FXYD5
+33 more
Deletion
Dystonic disorder
GPathogenic
FAM187B, FXYD1
+7 more
Copy number gain
not provided
GUncertain significance
ATP4A, CD22
+24 more
Copy number loss
not provided
GUncertain significance
ZNF607, ZNF780A
+432 more
Copy number gain
not provided
GPathogenic
ARHGAP33, ATP4A
+44 more
Copy number loss
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
FXYD3, LGI4
Copy number gain
See cases
GUncertain significance
ANKRD27, ATP4A
+58 more
Copy number gain
See cases
GPathogenic
FXYD3, LGI4
Copy number gain
See cases
GUncertain significance
CD22, DMKN
+18 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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