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Links from MedGen

Items: 1 to 100 of 189

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS7
(S270fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(L629*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 7
GPathogenic
BBS7
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 7
GPathogenic
BBS7
(W230*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS7
(K98fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(I397fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(S110fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(T497fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(G264*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(C527fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 7
GPathogenic
BBS7
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(Q401*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(Q358*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(E205fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS7
(Q33*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(P25fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 7
+1 more
GPathogenic/Likely pathogenic
BBS7
(Q616*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 7
+1 more
GPathogenic/Likely pathogenic
BBS7
(R173fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(D39fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(E562fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(V602fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(S311*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(Y140*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(G97fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 7
GPathogenic
BBS7
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(C481*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 7
GPathogenic
BBS7
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 7
+1 more
GPathogenic/Likely pathogenic
BBS7
(F517fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(K51fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS7
Microsatellite
(nonsense +1 more)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(L242fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(I37T)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
GUncertain significance
BBS7, LOC129993036
Duplication
(inframe_insertion)
Bardet-Biedl syndrome 7
GUncertain significance
BBS7
(E562fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
(Y660C)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+1 more
GUncertain significance
BBS7
(H647R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
GUncertain significance
BBS7
(S460L)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
GUncertain significance
BBS7
(C167Y)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
GUncertain significance
BBS7
Deletion
(splice acceptor variant)
Bardet-Biedl syndrome
+2 more
GPathogenic/Likely pathogenic
BBS7
(D713N)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
GUncertain significance
BBS7
(N197S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+1 more
GUncertain significance
BBS7
(G214R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
GUncertain significance
BBS7
(Q176*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 7
GLikely pathogenic
BBS7
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS7
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS7
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS7
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS7
Duplication
(intron variant)
Bardet-Biedl syndrome
+1 more
GBenign/Likely benign
BBS7
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS7
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 7
+1 more
GLikely benign
BBS7
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 7
+1 more
GLikely benign
BBS7
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS7
(G214R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+1 more
GUncertain significance
BBS7
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS7
(S702R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+1 more
GUncertain significance
BBS7
(T639M)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+1 more
GUncertain significance
BBS7
(P505S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+1 more
GUncertain significance
BBS7
(D654H)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+1 more
GUncertain significance
BBS7
(R484C)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS7
(R446W)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+1 more
GUncertain significance
BBS7
(P328Q)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS7
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GConflicting classifications of pathogenicity
BBS7
(I573V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+1 more
GUncertain significance
BBS7
(L357V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS7
(Y486*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 7
+1 more
GPathogenic/Likely pathogenic
BBS7
(K681I)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+1 more
GUncertain significance
BBS7
(R446Q)
Single nucleotide variant
(missense variant)
BBS7-related disorder
+2 more
GConflicting classifications of pathogenicity
BBS7
(C447Y)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
GUncertain significance
BBS7
(A217V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS7
(L101H)
Single nucleotide variant
(missense variant)
BBS7-related disorder
+2 more
GUncertain significance
BBS7
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS7
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 7
+1 more
GLikely benign
BBS7
Single nucleotide variant
(synonymous variant)
BBS7-related disorder
+2 more
GLikely benign
BBS7
(Q365fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS7
(N362fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 7
+1 more
GPathogenic/Likely pathogenic
BBS7
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 7
+1 more
GLikely pathogenic
BBS7
(I66M)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+2 more
GConflicting classifications of pathogenicity
BBS7
(P64L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LOC129993036, BBS7
(M8L)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+1 more
GUncertain significance
BBS7
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 7
+1 more
GUncertain significance
BBS7
(S110N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
BBS7
(P529S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+1 more
GUncertain significance
BBS7
(N148H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
BBS7
(M338L)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
GUncertain significance
BBS7
(V306A)
Single nucleotide variant
(missense variant)
BBS7-related disorder
+3 more
GUncertain significance
BBS7
(T315I)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS7
(E658K)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS7
(S366F)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+3 more
GUncertain significance
BBS7
(Y671C)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+1 more
GUncertain significance
BBS7
(M114V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 7
+1 more
GUncertain significance
BBS7
(G63R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GPathogenic
BBS7
(Q293P)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS7
(Q339*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 7
+1 more
GPathogenic
BBS7
(A166V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GConflicting classifications of pathogenicity
BBS7
(H666Y)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS7
(A26T)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
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