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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS4
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome
GBenign
BBS4
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome
GBenign
BBS4
(E3A)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome
GBenign
BBS4
(V6A)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome
GBenign
BBS4
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome
GBenign
BBS4
(A7V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome
GBenign
BBS4
(T10fs)
Duplication
(frameshift variant +2 more)
Bardet-Biedl syndrome
GBenign
BBS4
Single nucleotide variant
(synonymous variant +2 more)
Bardet-Biedl syndrome
GLikely benign
BBS4
Deletion
(intron variant)
Bardet-Biedl syndrome 4
+1 more
GPathogenic
BBS4
(I31V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome
GBenign
BBS4
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome
+1 more
GPathogenic
BBS4
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome
GPathogenic
BBS4
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome
GPathogenic
BBS4
(I354T +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GBenign
BBS4
Single nucleotide variant
(intron variant)
not specified
GLikely benign
BBS4
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GBenign
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