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Links from MedGen

Items: 1 to 100 of 330

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS10
(S630fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(A65fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(T676fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(F86fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(V214fs)
Indel
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(W289fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(Q35*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(Y486fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(I156fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
+1 more
GPathogenic/Likely pathogenic
BBS10
Microsatellite
(nonsense)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(V214E)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(L154fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(K542fs)
Insertion
(frameshift variant)
Bardet-Biedl syndrome 10
+1 more
GPathogenic/Likely pathogenic
BBS10
(T676fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(S4fs)
Insertion
(frameshift variant)
Bardet-Biedl syndrome 10
+1 more
GPathogenic/Likely pathogenic
BBS10
(Q287*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(T568fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS10
(T519fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(V331A)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(H59fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(C621fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(A8fs)
Indel
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(R163fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(T85fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
+1 more
GPathogenic/Likely pathogenic
BBS10
(T510fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(Y536fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(Q359fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(F86fs)
Insertion
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(Q282fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(T270fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(Y559fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(G552fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(E162*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(H300P)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(S444fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 10
GPathogenic
BBS10
(T519fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
GPathogenic
BBS10
(L308F)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(I407T)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
GUncertain significance
BBS10
(I310M)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
GUncertain significance
BBS10
(L58fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(L308S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
(E61fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome
+1 more
GPathogenic
BBS10
(S269fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome
+1 more
GPathogenic
BBS10
(I190T)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
GLikely pathogenic
BBS10
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS10
(N566D)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS10
(M1V)
Single nucleotide variant
(missense variant +1 more)
BBS10-related disorder
+2 more
GUncertain significance
BBS10
(N566H)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
+1 more
GUncertain significance
BBS10
(M628V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
BBS10
(Y321*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS10
(C28*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS10
(Y448fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
+1 more
GPathogenic/Likely pathogenic
BBS10
(P581S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS10
(Q265*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 10
+1 more
GPathogenic/Likely pathogenic
BBS10
(Q359E)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GConflicting classifications of pathogenicity
BBS10
(P505L)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS10
(N476S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS10
(E104fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 10
+1 more
GPathogenic/Likely pathogenic
BBS10
(T263I)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
GUncertain significance
BBS10
(V29L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
BBS10
(H410Q)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
GUncertain significance
BBS10
(S269fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
BBS10
(T79fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS10
(V319L)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
GUncertain significance
BBS10
(S3fs)
Indel
(frameshift variant)
Bardet-Biedl syndrome
+1 more
GPathogenic
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+2 more
GLikely benign
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS10
(K488R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS10
(N668S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
BBS10
(I113V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS10
(S454G)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS10
(N668K)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS10
(D70G)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS10
(Y455*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 10
+1 more
GPathogenic
BBS10
(V36F)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS10
(G683D)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS10
(D412H)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS10
(M594V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
+1 more
GUncertain significance
BBS10
(P394Q)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
GUncertain significance
BBS10
(T442I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BBS10
(V473D)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
GUncertain significance
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 10
GUncertain significance
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 10
+2 more
GLikely benign
BBS10
(K619R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS10
(H622R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 10
GUncertain significance
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 10
GUncertain significance
BBS10
Deletion
(inframe_indel)
Bardet-Biedl syndrome
+1 more
GConflicting classifications of pathogenicity
BBS10
(F446fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 10
GPathogenic/Likely pathogenic
BBS10
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS10
(I567T)
Single nucleotide variant
(missense variant)
BBS10-related disorder
+1 more
GUncertain significance
BBS10
(C195G)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS10
(T657A)
Single nucleotide variant
(missense variant)
BBS10-related disorder
+2 more
GUncertain significance
BBS10
(G385D)
Single nucleotide variant
(missense variant)
BBS10-related disorder
+2 more
GUncertain significance
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