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Links from MedGen

Items: 1 to 100 of 7424

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS9
Deletion
Bardet-Biedl syndrome
GPathogenic
BBS5
(N149fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome
GPathogenic
TTC8
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS2
Insertion
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS12
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
TTC8
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS7, LOC129993036
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS9
(I232fs +3 more)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome
GPathogenic
BBS5
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS2
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS5
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS4
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS12
(T586fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome
GPathogenic
BBS9
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS5
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS1, ZDHHC24
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS7
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS7
(W230R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GPathogenic
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS9
Deletion
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS4
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS1
Deletion
Bardet-Biedl syndrome
GPathogenic
BBS1
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
ASTN2, TRIM32
(R500Q)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
GUncertain significance
BBS7
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS12
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS2
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS10
(Q242fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome
GPathogenic
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS10
(R467fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome
GPathogenic
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS1
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS2
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS1, ZDHHC24
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
WDPCP
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS5, LOC129935068
(M1L)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 5
+1 more
GPathogenic/Likely pathogenic
BBS9
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS2
Deletion
(intron variant)
Bardet-Biedl syndrome
GBenign
BBS9
Single nucleotide variant
(non-coding transcript variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(non-coding transcript variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(synonymous variant +3 more)
Bardet-Biedl syndrome
GLikely benign
WDPCP
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS4
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS1, ZDHHC24
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS5
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS1, ZDHHC24
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS4
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS1
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS2
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome
+1 more
GLikely pathogenic
BBS9
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(synonymous variant +3 more)
Bardet-Biedl syndrome
GLikely benign
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GUncertain significance
BBS7
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS1
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS2
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(synonymous variant +2 more)
Bardet-Biedl syndrome
GLikely benign
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS7
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
WDPCP
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
WDPCP
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS12
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS9
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS2
Single nucleotide variant
(non-coding transcript variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS9
Insertion
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS4
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome
GLikely benign
BBS2
(G151R)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
GUncertain significance
BBS5, LOC129935068
Deletion
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS4
Single nucleotide variant
(non-coding transcript variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS5
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS1
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS4
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome
GLikely benign
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS7
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
ASTN2, TRIM32
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS10
(S680L)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS1
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
TTC8
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
BBS2
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
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