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Links from MedGen

Items: 1 to 100 of 255

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS9
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(Q412* +8 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(Q417* +8 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(G137fs +3 more)
Insertion
(frameshift variant +1 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(S478fs +8 more)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(R101fs +2 more)
Deletion
(frameshift variant +2 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(C600* +9 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 9
GPathogenic
BBS9
(Q515* +8 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 9
GPathogenic
BBS9
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(Q276* +3 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS9
(Q652fs +9 more)
Microsatellite
(frameshift variant +1 more)
Bardet-Biedl syndrome 9
+1 more
GPathogenic/Likely pathogenic
BBS9
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 9
+1 more
GLikely pathogenic
BBS9
(E143* +3 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(Q121* +3 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(E21* +1 more)
Single nucleotide variant
(nonsense +3 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(Q486* +8 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 9
+1 more
GPathogenic
BBS9
Deletion
(nonsense +4 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(Y466* +8 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(Q120fs +2 more)
Deletion
(frameshift variant +2 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(R430fs +8 more)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
Single nucleotide variant
(splice acceptor variant +1 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(E497* +8 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(S623fs +9 more)
Microsatellite
(frameshift variant +1 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(G100fs +3 more)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome 9
+1 more
GPathogenic/Likely pathogenic
BBS9
(S276* +3 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
Insertion
(frameshift variant +2 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GConflicting classifications of pathogenicity
BBS9
(E143G +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 9
GUncertain significance
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 9
GUncertain significance
BBS9
(C660R +9 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 9
GUncertain significance
BBS9
(Q548* +8 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
(W200* +3 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome
+2 more
GPathogenic/Likely pathogenic
BBS9
(L219* +3 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS9
(G110R +2 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome 9
GUncertain significance
BBS9
Deletion
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 9
GUncertain significance
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 9
GUncertain significance
BBS9
(R252* +3 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome 9
+3 more
GPathogenic
BBS9
Deletion
(splice acceptor variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS9
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 9
GPathogenic
BBS9
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 9
+1 more
GLikely benign
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 9
+1 more
GLikely benign
BBS9
Duplication
(intron variant)
Bardet-Biedl syndrome 9
+1 more
GLikely benign
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 9
+1 more
GLikely benign
BBS9
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+2 more
GLikely benign
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS9
Single nucleotide variant
(synonymous variant +1 more)
BBS9-related disorder
+2 more
GLikely benign
BBS9
(R7H)
Single nucleotide variant
(missense variant +3 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS9
Deletion
(inframe_indel +2 more)
Bardet-Biedl syndrome 9
+1 more
GUncertain significance
BBS9
(V371I +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 9
+1 more
GUncertain significance
BBS9
(I300V +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS9
(R278Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS9
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 9
+1 more
GUncertain significance
BBS9
(R493C +8 more)
Single nucleotide variant
(missense variant +1 more)
BBS9-related disorder
+2 more
GUncertain significance
BBS9
(R476* +8 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic
BBS9
(R509C +8 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 9
+1 more
GUncertain significance
BBS9
(I444V +8 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS9
(T723A +9 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS9
(S188F +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS9
(H568Y +8 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS9
(S142G +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
BBS9
(L67S +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+3 more
GUncertain significance
BBS9
(G132C +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 9
+2 more
GUncertain significance
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS9
(I347fs +3 more)
Deletion
(frameshift variant +1 more)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS9
(P136R +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 9
GPathogenic
BBS9
(R357* +6 more)
Single nucleotide variant
(nonsense +2 more)
Bardet-Biedl syndrome
+2 more
GPathogenic/Likely pathogenic
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 9
+1 more
GBenign
BBS9
(Y368fs +3 more)
Deletion
(frameshift variant +2 more)
Bardet-Biedl syndrome 9
GLikely pathogenic
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GBenign/Likely benign
BBS9
Duplication
(intron variant)
Bardet-Biedl syndrome 9
+1 more
GBenign/Likely benign
BBS9
Single nucleotide variant
(synonymous variant +3 more)
Bardet-Biedl syndrome
+2 more
GLikely benign
BBS9
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome 9
+1 more
GLikely benign
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS9
Single nucleotide variant
(synonymous variant +2 more)
BBS9-related disorder
+2 more
GLikely benign
BBS9
Single nucleotide variant
(synonymous variant +1 more)
Bardet-Biedl syndrome
+2 more
GLikely benign
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 9
+1 more
GLikely benign
BBS9
(Q440* +8 more)
Single nucleotide variant
(nonsense +1 more)
Bardet-Biedl syndrome
+2 more
GPathogenic
BBS9
(A513fs +8 more)
Microsatellite
(frameshift variant +1 more)
BBS9-related disorder
+2 more
GPathogenic/Likely pathogenic
BBS9
(K370* +3 more)
Single nucleotide variant
(nonsense +2 more)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS9
(I41S)
Single nucleotide variant
(missense variant +3 more)
Bardet-Biedl syndrome 9
+1 more
GUncertain significance
BBS9
(R521H +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
BBS9
(E176D +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS9
(S166G +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS9
(I329T +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS9
(E524G +8 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 9
+1 more
GUncertain significance
BBS9
(D817N +9 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 9
+1 more
GUncertain significance
BBS9
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 9
GUncertain significance
BBS9
(M355I +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS9
(S572N +8 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS9
(T568I +8 more)
Single nucleotide variant
(missense variant +2 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS9
(L335S +3 more)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome
+1 more
GUncertain significance
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