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Links from MedGen

Items: 1 to 100 of 333

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS2
(L93*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(N121fs)
Indel
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(L437fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(K599*)
Duplication
(non-coding transcript variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 2
+1 more
GLikely pathogenic
BBS2
(L62fs)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 2
+1 more
GLikely pathogenic
BBS2
(D187fs)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(Q343*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(Q532*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(A136fs)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(L486fs)
Microsatellite
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(G218D)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(A576fs)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(G95fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(Y648*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
Deletion
(splice donor variant)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(P452fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
Duplication
(splice donor variant)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(S53fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(N141del)
Deletion
(inframe_deletion +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
F8
(N616S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 2
GUncertain significance
BBS2
Insertion
(inframe_indel +1 more)
Bardet-Biedl syndrome 2
GUncertain significance
BBS2, OGFOD1
Microsatellite
(intron variant)
Bardet-Biedl syndrome 2
+1 more
GUncertain significance
BBS2
(A564S)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 2
GUncertain significance
BBS2
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome
+1 more
GLikely pathogenic
BBS2
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 2
+1 more
GLikely pathogenic
BBS2
(G425fs)
Insertion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(K268*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(P452fs)
Insertion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(E583*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(T262fs)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(G256*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(G552fs)
Insertion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(D104fs)
Insertion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(I567fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(K231*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(T207fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(S488fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(N164fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(L416fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(E420fs)
Indel
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(K599fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(L363*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(F501fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(S439fs)
Insertion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(L135H)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 2
GUncertain significance
BBS2
(G515fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 2
+2 more
GLikely benign
BBS2
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 2
+2 more
GLikely benign
BBS2
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+2 more
GBenign/Likely benign
BBS2
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 74
+2 more
GLikely benign
BBS2
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+2 more
GLikely benign
BBS2
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+2 more
GLikely benign
BBS2
Single nucleotide variant
(non-coding transcript variant +1 more)
Retinitis pigmentosa 74
+2 more
GLikely benign
BBS2
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 74
+2 more
GLikely benign
BBS2
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 2
+2 more
GLikely benign
BBS2
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 2
+2 more
GLikely benign
BBS2
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+2 more
GLikely benign
BBS2
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 74
+2 more
GLikely benign
BBS2
(G515C)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
BBS2
(I21V)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 74
+2 more
GUncertain significance
BBS2
(R480Q)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 74
+2 more
GUncertain significance
BBS2
(M571I)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 74
+3 more
GUncertain significance
BBS2
(R699W)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 2
+2 more
GUncertain significance
BBS2
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 74
+2 more
GLikely benign
BBS2
(K241T)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 2
+3 more
GUncertain significance
BBS2
(N107S)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 2
+2 more
GUncertain significance
BBS2
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS2
(R403L)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS2
(T397I)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 74
+2 more
GUncertain significance
BBS2
(R325K)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS2
(E86fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
+1 more
GPathogenic/Likely pathogenic
BBS2
(V94fs)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
+1 more
GPathogenic
BBS2
(V588fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS2
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 2
+1 more
GLikely pathogenic
BBS2
Single nucleotide variant
(5 prime UTR variant +1 more)
Bardet-Biedl syndrome 2
+3 more
GUncertain significance
BBS2
(T127R)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GUncertain significance
BBS2
(F575fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 2
GLikely pathogenic
BBS2
(S390I)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 2
+1 more
GUncertain significance
BBS2
(Y658C)
Single nucleotide variant
(missense variant +1 more)
BBS2-related condition
+2 more
GUncertain significance
BBS2
(R715Q)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 2
+2 more
GUncertain significance
TTC21B, TTC21B-AS1
Duplication
(splice acceptor variant)
Asphyxiating thoracic dystrophy 4
+1 more
GPathogenic
BBS2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
BBS2
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+2 more
GLikely benign
BBS2
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+2 more
GLikely benign
BBS2
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 74
+2 more
GLikely benign
BBS2
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 2
+2 more
GLikely benign
BBS2
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 2
+2 more
GLikely benign
BBS2
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 2
+2 more
GLikely benign
BBS2
Deletion
(intron variant)
Retinitis pigmentosa 74
+2 more
GLikely benign
BBS2
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+2 more
GLikely benign
BBS2
(L550fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome
+2 more
GPathogenic/Likely pathogenic
BBS2
(G146fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS2
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome
GPathogenic
BBS2
(S109*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 2
+1 more
GPathogenic/Likely pathogenic
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