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Items: 46

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993082, LOC129993083
+661 more
Copy number gain
See cases
GPathogenic
LOC129993132, LOC129993133
+420 more
Copy number loss
See cases
GPathogenic
ABHD18, ADAD1
+254 more
Copy number loss
See cases
GPathogenic
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1245 more
Copy number gain
See cases
GPathogenic
ADAD1
(Q9R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAD1
(T12K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(S22F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(P63S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(K63R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(R92H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(T101A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(P178R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(E200G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(I209V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(V195I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(S283R)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ADAD1
(M281T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(S293C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(A352T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(V342M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(S392N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(S437G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(R508W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(R499Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(Y537C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAD1
(M558K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AFG2A, ANXA5
+17 more
Deletion
not provided
GUncertain significance
ADAD1, AFG2A
+5 more
Copy number gain
not specified
GUncertain significance
AADAT, ABCE1
+286 more
Copy number gain
not specified
GPathogenic
HPGDS, SCRG1
+537 more
Copy number gain
not provided
GPathogenic
SPOCK3, SPRY1
+153 more
Copy number gain
not provided
GPathogenic
AFG2A, ANXA5
+17 more
Duplication
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
GUncertain significance
ABHD18, ADAD1
+40 more
Copy number loss
not specified
GPathogenic
ABHD18, ADAD1
+123 more
Copy number gain
not specified
GPathogenic
AASDH, ABCG2
+359 more
Copy number gain
not provided
GPathogenic
TNIP3, TRPC3
+48 more
Copy number loss
not provided
GPathogenic
MAD2L1, METTL14
+43 more
Copy number loss
Delayed speech and language development
+1 more
GPathogenic
SMIM43, SNHG8
+31 more
Deletion
Neurodevelopmental disorder
GLikely pathogenic
ABHD18, ADAD1
+40 more
Copy number loss
not provided
GPathogenic
AADAT, ABCE1
+314 more
Copy number gain
See cases
GPathogenic
CFAP97, CFI
+255 more
Copy number gain
See cases
GPathogenic
AADAT, AASDH
+745 more
Copy number gain
See cases
GPathogenic
MRPL1, MSANTD1
+745 more
Copy number gain
See cases
GPathogenic
H2AZ1, HADH
+744 more
Copy number gain
See cases
GPathogenic
SCOC, SCRG1
+218 more
Copy number gain
See cases
GPathogenic
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