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Links from MedGen

Items: 1 to 100 of 201

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS4
(L59fs)
Deletion
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(E215* +2 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(S138fs)
Deletion
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(K20fs)
Deletion
(frameshift variant +2 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(H40fs)
Deletion
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(D156fs)
Deletion
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(N203fs +2 more)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(E240fs +2 more)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(L130fs)
Deletion
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(L296fs +2 more)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(Y171fs)
Duplication
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(K197fs +2 more)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(W264* +2 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(Q35*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(Q11*)
Single nucleotide variant
(nonsense +2 more)
Bardet-Biedl syndrome 4
+1 more
GPathogenic
BBS4
(A94fs)
Deletion
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
+1 more
GPathogenic/Likely pathogenic
BBS4
(L201* +2 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(P30fs)
Deletion
(frameshift variant +2 more)
Bardet-Biedl syndrome 4
+1 more
GPathogenic/Likely pathogenic
BBS4
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 4
+1 more
GLikely pathogenic
BBS4
(L32*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(V230fs +2 more)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(K34fs)
Deletion
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(E196fs +1 more)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(E203fs +1 more)
Microsatellite
(frameshift variant +1 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
Duplication
(splice donor variant)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(S292fs +2 more)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS4
(Q19*)
Single nucleotide variant
(nonsense +2 more)
Bardet-Biedl syndrome 4
+1 more
GPathogenic/Likely pathogenic
BBS4
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(Y223* +2 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS4
(Q99*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(E136*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS4
(A295fs +2 more)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(W135*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
Deletion
(nonsense +1 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(C51fs)
Deletion
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(Q257R +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 4
GUncertain significance
BBS4
(Q157R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
GUncertain significance
BBS4
Deletion
(intron variant)
Bardet-Biedl syndrome 4
GUncertain significance
BBS4
(S292C +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 4
GUncertain significance
BBS4
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(V230fs +2 more)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 4
GLikely pathogenic
BBS4
(I172fs)
Duplication
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
+1 more
GPathogenic
BBS4
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 4
+1 more
GPathogenic/Likely pathogenic
BBS4
(E4*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
+1 more
GPathogenic/Likely pathogenic
BBS4
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 4
+1 more
GLikely pathogenic
BBS4
(T206fs +1 more)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome
+2 more
GPathogenic/Likely pathogenic
BBS4
(Q399* +2 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 4
+1 more
GPathogenic/Likely pathogenic
BBS4
(Q371* +2 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS4
(E432fs +2 more)
Duplication
(frameshift variant +1 more)
Bardet-Biedl syndrome 4
+1 more
GPathogenic/Likely pathogenic
BBS4
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS4
(Q23*)
Single nucleotide variant
(nonsense +2 more)
Bardet-Biedl syndrome 4
+1 more
GPathogenic/Likely pathogenic
BBS4
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 4
+1 more
GLikely pathogenic
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 4
GUncertain significance
BBS4
(A74T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
GPathogenic
BBS4
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 4
+2 more
GLikely benign
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS4
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS4
Duplication
(intron variant)
Bardet-Biedl syndrome 4
+1 more
GLikely benign
BBS4
Single nucleotide variant
(non-coding transcript variant +1 more)
Bardet-Biedl syndrome 4
+1 more
GLikely pathogenic
BBS4
(P372S +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 4
+2 more
GUncertain significance
BBS4
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 4
+1 more
GUncertain significance
BBS4
(R78H)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
+2 more
GUncertain significance
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 4
+1 more
GLikely benign
BBS4
(A219T +2 more)
Single nucleotide variant
(missense variant +1 more)
BBS4-related disorder
+2 more
GUncertain significance
BBS4
(K347fs +2 more)
Microsatellite
(frameshift variant +1 more)
Bardet-Biedl syndrome 4
+1 more
GUncertain significance
BBS4
(V82I +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS4
(M226T +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+3 more
GUncertain significance
BBS4
Single nucleotide variant
(non-coding transcript variant +2 more)
Bardet-Biedl syndrome 4
+1 more
GConflicting classifications of pathogenicity
BBS4
(K186R +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 4
+1 more
GUncertain significance
BBS4
(P244A +2 more)
Single nucleotide variant
(missense variant +1 more)
BBS4-related disorder
+3 more
GUncertain significance
BBS4
(L239P +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS4
(K266* +2 more)
Insertion
(nonsense +1 more)
BBS4-related disorder
+1 more
GPathogenic/Likely pathogenic
BBS4
Single nucleotide variant
(splice donor variant)
Retinitis pigmentosa
+1 more
GConflicting classifications of pathogenicity
BBS4
Deletion
(nonsense +1 more)
Retinitis pigmentosa
+2 more
GPathogenic/Likely pathogenic
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 4
GBenign
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 4
GBenign
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 4
GBenign
BBS4
(V268fs +2 more)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS4
(Q287* +2 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS4
(Q63*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome
+1 more
GPathogenic
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 4
+1 more
GBenign/Likely benign
BBS4
Single nucleotide variant
(non-coding transcript variant +1 more)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS4
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome 4
+1 more
GLikely benign
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 4
+1 more
GLikely benign
BBS4
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GLikely benign
BBS4
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 4
+1 more
GLikely benign
BBS4
Single nucleotide variant
(synonymous variant +1 more)
BBS4-related disorder
+2 more
GLikely benign
BBS4
(L138fs +2 more)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS4
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 4
+1 more
GPathogenic/Likely pathogenic
BBS4
Single nucleotide variant
(non-coding transcript variant +1 more)
Bardet-Biedl syndrome 4
+1 more
GLikely pathogenic
BBS4
(I146T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS4
(V143D)
Single nucleotide variant
(5 prime UTR variant +2 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS4
(S292P +2 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
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