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Items: 1 to 100 of 139

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABTB2, ANO3
+283 more
Copy number loss
See cases
GPathogenic
PAX6_HS3, PAX6_HS8
+334 more
Copy number loss
See cases
GPathogenic
ANO3, ANO3-AS1
+47 more
Copy number loss
See cases
GLikely pathogenic
ANO3, ANO3-AS1
+71 more
Copy number gain
See cases
GPathogenic
LOC129390275, LOC129390276
+255 more
Copy number loss
See cases
GPathogenic
BDNF, BDNF-AS
Single nucleotide variant
(3 prime UTR variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
Single nucleotide variant
(3 prime UTR variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
(C239G +4 more)
Single nucleotide variant
(missense variant)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
(I231V +4 more)
Single nucleotide variant
(missense variant)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
(M220T +4 more)
Single nucleotide variant
(missense variant)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
(V215M +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
not provided
GBenign
BDNF, BDNF-AS
(S213L +4 more)
Single nucleotide variant
(missense variant)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
(W212fs +4 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BDNF, BDNF-AS
(P188R +4 more)
Single nucleotide variant
(missense variant)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
(C186Y +4 more)
Single nucleotide variant
(missense variant)
Obesity
GLikely pathogenic
BDNF, BDNF-AS
(E183K +4 more)
Single nucleotide variant
(missense variant)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
not provided
GBenign
BDNF-AS, BDNF
(F181C +4 more)
Single nucleotide variant
(missense variant)
Inherited obesity
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
(V170I +4 more)
Single nucleotide variant
(missense variant)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
(E168* +4 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GLikely pathogenic
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
(T163M +4 more)
Single nucleotide variant
(missense variant)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
(A156T +4 more)
Single nucleotide variant
(missense variant)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
(T155S +4 more)
Single nucleotide variant
(missense variant)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
BDNF, BDNF-AS
Single nucleotide variant
(no sequence alteration)
not specified
+1 more
GBenign
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
BDNF, BDNF-AS
(V140M +4 more)
Single nucleotide variant
(missense variant)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BDNF, BDNF-AS
(M130I +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BDNF, BDNF-AS
(M122T +4 more)
Single nucleotide variant
(missense variant)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
(F116Y +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
BDNF, BDNF-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
(V102M +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
BDNF, BDNF-AS
(T106K +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
BDNF, BDNF-AS
(E110* +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
BDNF, BDNF-AS
(N109S +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
(R93Q +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
BDNF, BDNF-AS
(K158Q +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
(K105E +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
(Q157E +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GLikely benign
BDNF, BDNF-AS
(V66M +4 more)
Single nucleotide variant
(non-coding transcript variant +3 more)
Post-traumatic stress disorder
GLikely risk allele
BDNF, BDNF-AS
(V66M +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GBenign
BDNF, BDNF-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
(E146K +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
(T77A +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
BDNF, BDNF-AS
(S140P +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
BDNF, BDNF-AS
(T86K +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
BDNF, BDNF-AS
(G55V +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
BDNF, BDNF-AS
(G134S +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
(V128M +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
BDNF-related disorder
+1 more
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
(L125P +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
(R120Q +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(non-coding transcript variant +1 more)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
(Y49C +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BDNF, BDNF-AS
(G113D +4 more)
Single nucleotide variant
(missense variant)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
BDNF, BDNF-AS
(A106T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BDNF, BDNF-AS
(K17E +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BDNF, BDNF-AS
(Y12* +4 more)
Single nucleotide variant
(nonsense)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
(T10N +4 more)
Single nucleotide variant
(missense variant)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
(T2I +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BDNF, BDNF-AS
Microsatellite
(5 prime UTR variant +1 more)
not provided
GBenign
BDNF, BDNF-AS
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
BDNF, BDNF-AS
Microsatellite
(5 prime UTR variant +1 more)
not provided
GBenign
BDNF, BDNF-AS
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
BDNF, BDNF-AS
Single nucleotide variant
(intron variant)
not provided
GBenign
BDNF, BDNF-AS
Single nucleotide variant
(intron variant)
not provided
GBenign
BDNF-AS, BDNF
Single nucleotide variant
(intron variant)
not provided
GBenign
BDNF, BDNF-AS
(F73L)
Single nucleotide variant
(missense variant +2 more)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
(N71K)
Single nucleotide variant
(missense variant +2 more)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
(I68M)
Single nucleotide variant
(missense variant +2 more)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant +2 more)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant +2 more)
BDNF-related disorder
GLikely benign
BDNF, BDNF-AS
(V56A)
Single nucleotide variant
(missense variant +2 more)
BDNF-related disorder
GUncertain significance
BDNF, BDNF-AS
Single nucleotide variant
(synonymous variant +2 more)
BDNF-related disorder
GLikely benign
BDNF-AS, BDNF
Single nucleotide variant
(synonymous variant +2 more)
BDNF-related disorder
GLikely benign
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