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Links from MedGen

Items: 1 to 100 of 397

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS1
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1, ZDHHC24
(R341fs)
Indel
(frameshift variant +1 more)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1, ZDHHC24
Single nucleotide variant
(splice donor variant +1 more)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1
(S16fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 1
+1 more
GLikely pathogenic
BBS1, ZDHHC24
Deletion
(splice acceptor variant +1 more)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1
(L24fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1, ZDHHC24
(I286fs)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1
(I194fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1, ZDHHC24
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1, ZDHHC24
Single nucleotide variant
(splice donor variant +1 more)
Bardet-Biedl syndrome
+1 more
GConflicting classifications of pathogenicity
BBS2
(V510F)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS12
(N562fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 1
GPathogenic
BBS1, DPP3
Copy number loss
Bardet-Biedl syndrome 1
GPathogenic
LOC126862183, SCAPER
(R1098Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 1
GUncertain significance
BBS4
Copy number loss
Bardet-Biedl syndrome 1
GPathogenic
BBS1
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 1
GUncertain significance
BBS1
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS1
(R100Q)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 1
+2 more
GUncertain significance
BBS1, ZDHHC24
(T258M)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 1
GUncertain significance
BBS1, ZDHHC24
(P245fs)
Deletion
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1
(D145fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1, ZDHHC24
(P418fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1, ZDHHC24
(K500*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1, ZDHHC24
(T405fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1, ZDHHC24
(E337fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1, ZDHHC24
(W322*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1, ZDHHC24
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GConflicting classifications of pathogenicity
BBS1, ZDHHC24
Single nucleotide variant
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 1
GUncertain significance
BBS1
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS1
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GLikely benign
BBS1
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS1, ZDHHC24
Deletion
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
ARL6
(L48H)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 3
+3 more
GUncertain significance
BBS1
Deletion
(splice donor variant)
Bardet-Biedl syndrome 1
+1 more
GLikely pathogenic
BBS1, ZDHHC24
(R570*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS1, ZDHHC24
(G270R)
Single nucleotide variant
(3 prime UTR variant +1 more)
BBS1-related condition
+2 more
GUncertain significance
BBS5
(I76V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS1
Deletion
(nonsense)
Bardet-Biedl syndrome
+1 more
GPathogenic
BBS1, ZDHHC24
(V492F)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 1
+2 more
GUncertain significance
BBS1
(E15K)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS1, ZDHHC24
(R483Q)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS1, ZDHHC24
(R432W)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 1
+1 more
GUncertain significance
BBS12
(C464fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome
GPathogenic
BBS1, ZDHHC24
(L522fs)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS1, ZDHHC24
(T392N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ZDHHC24, BBS1
(V491M)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS1, ZDHHC24
(A593T)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 1
+1 more
GUncertain significance
BBS1
(R67C)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 1
+1 more
GUncertain significance
BBS1
(L106F)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 1
+1 more
GUncertain significance
BBS1, ZDHHC24
(M584I)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS1
(A4S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS1
(P30T)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS1
(A44fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 1
GLikely pathogenic
BBS1, ZDHHC24
(V303A)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 1
+1 more
GUncertain significance
ZDHHC24, BBS1
(R268C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+2 more
GUncertain significance
BBS1, ZDHHC24
(T374S)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
BBS1
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome
+1 more
GPathogenic
ARL6
(L177F)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa
+5 more
GUncertain significance
BBS1, ZDHHC24
(L251fs)
Deletion
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 1
GPathogenic
BBS1
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome
+1 more
GPathogenic
BBS1
(L93F)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 1
+1 more
GUncertain significance
BBS1, ZDHHC24
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 1
+1 more
GBenign
BBS1, ZDHHC24
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 1
GBenign
BBS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
BBS1
Single nucleotide variant
not provided
+1 more
GBenign
BBS1
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 1
+1 more
GLikely benign
BBS1, ZDHHC24
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS1, ZDHHC24
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
ARL6
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 3
+3 more
GLikely benign
BBS1, ZDHHC24
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS1, ZDHHC24
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 1
+1 more
GLikely benign
BBS1
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
ARL6
(G2*)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 1
+2 more
GPathogenic
BBS1
(Q128*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome
+1 more
GPathogenic
BBS1
(V76E)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS1
(T201I)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
NPHP1
(M425V +4 more)
Single nucleotide variant
(missense variant)
Nephronophthisis
+3 more
GUncertain significance
BBS1
(D212N)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS1
(F92L)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS1
(R196Q)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS1, ZDHHC24
(V304L)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS1, ZDHHC24
(G543E)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
GUncertain significance
BBS1
(V199I)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS1
(V216M)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS1, ZDHHC24
(L336V)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
GUncertain significance
BBS1, ZDHHC24
Single nucleotide variant
(splice donor variant +1 more)
Bardet-Biedl syndrome 1
GPathogenic
BBS1, ZDHHC24
(N352D)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
ARL6
(E17K)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 55
+4 more
GUncertain significance
IFT172
(R572Q)
Single nucleotide variant
(missense variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GUncertain significance
BBS1
(M94V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS1, ZDHHC24
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GUncertain significance
BBS1, ZDHHC24
(R356H)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS1, ZDHHC24
Duplication
(3 prime UTR variant +1 more)
Bardet-Biedl syndrome 1
GUncertain significance
BBS1, ZDHHC24
(T510A)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 1
GUncertain significance
BBS1, ZDHHC24
(P497T)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 1
GUncertain significance
BBS1, ZDHHC24
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
GLikely benign
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