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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
LINC02057, LINC02101
+518 more
Copy number gain
See cases
GPathogenic
ANKRD55, ARL15
+125 more
Copy number gain
See cases
GUncertain significance
ACTBL2, ANKRD55
+269 more
Copy number loss
See cases
GPathogenic
ARL15, CCNO
+96 more
Copy number loss
See cases
GPathogenic
GZMK
(I13T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMK
(G29E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMK
(V33E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMK
(V51A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMK
(G54V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCNO, CCNO-DT
+35 more
Copy number gain
See cases
GUncertain significance
GZMK
(R107G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMK
(K148R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMK
(D158N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GZMK
(M197L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMK
(A226T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMK
(K239T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMK
(Y243H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMK
(Y250C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GZMK
(N257D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTBL2, ANKRD55
+35 more
Copy number loss
not specified
GLikely pathogenic
ANKRD55, ARL15
+23 more
Deletion
not provided
GPathogenic
ARL15, CCNO
+11 more
Duplication
Neurodevelopmental disorder
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
SLC38A9, SNX18
+12 more
Copy number loss
Abnormal esophagus morphology
GLikely benign
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