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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS4
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 4
+2 more
GBenign
BBS4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
BBS4
Single nucleotide variant
(non-coding transcript variant +1 more)
Bardet-Biedl syndrome 4
+2 more
GConflicting classifications of pathogenicity
BBS4
(R22W)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 4
+3 more
GBenign
BBS4
(K46R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity
BBS4
(I70V)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
BBS4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
BBS4
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign
BBS4
(A329V +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 4
+2 more
GUncertain significance
BBS4
(N350S +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GConflicting classifications of pathogenicity
BBS4
(I354T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign
BBS4
(E363D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
BBS4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BBS4
(E412D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GConflicting classifications of pathogenicity
BBS4
(I516fs +2 more)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome
+1 more
GConflicting classifications of pathogenicity
BBS4
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GBenign
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