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Items: 1 to 100 of 997

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1072 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1188 more
Copy number gain
See cases
GPathogenic
LOC130002218, LOC130002219
+994 more
Copy number gain
See cases
GPathogenic
LOC130002205, LOC130002206
+417 more
Copy number loss
See cases
GPathogenic
GABBR2
Single nucleotide variant
(3 prime UTR variant)
Neurodevelopmental disorder with poor language and loss of hand skills
+1 more
GUncertain significance
GABBR2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
GABBR2
Insertion
(3 prime UTR variant)
not provided
GLikely benign
GABBR2
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
GABBR2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
GABBR2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
GABBR2
Insertion
(3 prime UTR variant)
not provided
GBenign
GABBR2
Insertion
(3 prime UTR variant)
not provided
GBenign
GABBR2
Insertion
(3 prime UTR variant)
not provided
GBenign
GABBR2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
GABBR2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
GABBR2
Single nucleotide variant
(3 prime UTR variant)
GABBR2-related disorder
+1 more
GBenign/Likely benign
GABBR2
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
(R935Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GABBR2
(R935*)
Single nucleotide variant
(nonsense)
Epileptic encephalopathy
GUncertain significance
GABBR2
(F934L)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
GABBR2
(H929R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
GABBR2
Duplication
(inframe_insertion)
Epileptic encephalopathy
GUncertain significance
GABBR2
(R926H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 59
+2 more
GUncertain significance
GABBR2
(R926P)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Duplication
(inframe_insertion)
Epileptic encephalopathy
GUncertain significance
GABBR2
(R926C)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Deletion
(inframe_deletion)
Epileptic encephalopathy
GUncertain significance
GABBR2
(S924R)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
GABBR2
(A923T)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GBenign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
(T922I)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Deletion
(inframe_deletion)
Developmental and epileptic encephalopathy, 59
+1 more
GUncertain significance
GABBR2
(V919L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GABBR2
(V919I)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GBenign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
+1 more
GLikely benign
GABBR2
(V915F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GABBR2
(C914Y)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GLikely benign
GABBR2
(S913G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 59
+2 more
GConflicting classifications of pathogenicity
GABBR2
(A912T)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GUncertain significance
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
(V910M)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GLikely benign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GBenign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
(I907V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
(R891Q)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
GABBR2
(R891W)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
+1 more
GLikely benign
GABBR2
(R890H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GABBR2
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
+1 more
GBenign/Likely benign
GABBR2
Single nucleotide variant
(intron variant)
not provided
GBenign
GABBR2
Single nucleotide variant
(intron variant)
not provided
GBenign
GABBR2
Single nucleotide variant
(intron variant)
not provided
GBenign
GABBR2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GABBR2
Single nucleotide variant
(intron variant)
not provided
GBenign
GABBR2
Single nucleotide variant
(intron variant)
not provided
GBenign
GABBR2
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GBenign
GABBR2
Single nucleotide variant
(intron variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(splice donor variant)
Autism spectrum disorder
GUncertain significance
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
(I879T)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
GABBR2
(I879V)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GBenign/Likely benign
GABBR2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
GABBR2
(K876E)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
GABBR2
(C875S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GABBR2
(T874K)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
+1 more
GBenign
GABBR2
(R873Q)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
+1 more
GLikely benign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
(T869A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
GABBR2
(T868A)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
GABBR2
(P862S)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GUncertain significance
GABBR2
(D859G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GABBR2
(D859H)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GLikely benign
GABBR2
(D859N)
Single nucleotide variant
(missense variant)
Epileptic encephalopathy
GBenign
GABBR2
Single nucleotide variant
(synonymous variant)
Epileptic encephalopathy
GLikely benign
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