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Links from MedGen

Items: 1 to 100 of 237

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS12
(R431fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
(L553fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
(L382*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
(G496fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
(S165*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
(Q513*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
(L358fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
(Q511*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
(S629fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
(L637*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
(L558fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS12
(E447*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
(W520*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
(F316fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
(T240fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
(E671K)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 12
GUncertain significance
BBS12
(I232fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 12
GPathogenic
BBS12
(V666del)
Microsatellite
(inframe_deletion)
Bardet-Biedl syndrome 12
+1 more
GConflicting classifications of pathogenicity
BBS12
(S600*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 12
+1 more
GPathogenic/Likely pathogenic
BBS12
(Y81H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
BBS12
(T336fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS12
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS12
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS12
(V134F)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS12
(R675Q)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS12
(V128I)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 12
+1 more
GUncertain significance
BBS12
(I170V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS12
(S578*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome
+1 more
GPathogenic
BBS12
(C304fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 12
+1 more
GPathogenic/Likely pathogenic
BBS12
(N638S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS12
(H260fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS12
(L56F)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS12
(E270A)
Single nucleotide variant
(missense variant)
BBS12-related condition
+2 more
GUncertain significance
BBS12
(R421C)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS12
(I490V)
Single nucleotide variant
(missense variant)
BBS12-related condition
+2 more
GUncertain significance
BBS12
(G119D)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 12
+1 more
GUncertain significance
BBS12
(Q228fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 12
GPathogenic
BBS12
(Q658*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
(S392*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 12
+2 more
GConflicting classifications of pathogenicity
BBS12
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 12
GUncertain significance
BBS12
(W673fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 12
+1 more
GPathogenic/Likely pathogenic
BBS12
(N366fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 12
GLikely pathogenic
BBS12
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 12
+1 more
GBenign
BBS12
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS12
Single nucleotide variant
(synonymous variant)
BBS12-related condition
+2 more
GLikely benign
BBS12
(E58*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome
+1 more
GPathogenic
BBS12
(V290fs)
Deletion
(frameshift variant)
BBS12-related condition
+2 more
GPathogenic/Likely pathogenic
BBS12
(E555fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS12
(Q685*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 12
+1 more
GPathogenic/Likely pathogenic
BBS12
(I232fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS12
(Q149*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS12
(S64N)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS12
(S47N)
Single nucleotide variant
(missense variant)
BBS12-related condition
+2 more
GUncertain significance
BBS12
(Q698H)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS12
(R239K)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS12
(C426R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 12
+2 more
GConflicting classifications of pathogenicity
BBS12
(Y334C)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS12
(N571S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS12
(C464R)
Single nucleotide variant
(missense variant)
BBS12-related condition
+2 more
GUncertain significance
BBS12
(V471M)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS12
(G435S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS12
(D267E)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS12
(I636T)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 12
GUncertain significance
BBS12
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
GLikely benign
BBS12
(L526S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 12
GUncertain significance
BBS12
(L194I)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS12
(D362fs)
Indel
(frameshift variant)
Bardet-Biedl syndrome 12
+1 more
GPathogenic/Likely pathogenic
BBS12
(G539D)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS12
(E533K)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS12
(S328del)
Microsatellite
(inframe_deletion)
Bardet-Biedl syndrome
+2 more
GConflicting classifications of pathogenicity
BBS12
(E270D)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS12
(S51T)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS12
(S64T)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS12
(V7I)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS12
(G468R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS12
(Q300*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome
+1 more
GPathogenic
BBS12
(R431Q)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS12
(G191R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 12
+1 more
GUncertain significance
BBS12
(A23V)
Single nucleotide variant
(missense variant)
BBS12-related condition
+2 more
GUncertain significance
BBS12
(R27G)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS12
(G450R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS12
(R421H)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS12
(Q402R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS12
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 12
+1 more
GConflicting classifications of pathogenicity
BBS12
Single nucleotide variant
(5 prime UTR variant)
Bardet-Biedl syndrome 12
GUncertain significance
BBS12
Single nucleotide variant
(3 prime UTR variant)
Bardet-Biedl syndrome 12
GUncertain significance
BBS12
Single nucleotide variant
(3 prime UTR variant)
Bardet-Biedl syndrome 12
GUncertain significance
BBS12
(K430R)
Single nucleotide variant
(missense variant)
BBS12-related condition
+2 more
GUncertain significance
BBS12
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 12
GUncertain significance
BBS12
Single nucleotide variant
(3 prime UTR variant)
Bardet-Biedl syndrome 12
GUncertain significance
BBS12
Single nucleotide variant
(3 prime UTR variant)
Bardet-Biedl syndrome 12
GUncertain significance
BBS12
(N373S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 12
GUncertain significance
BBS12
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 12
+1 more
GConflicting classifications of pathogenicity
BBS12
(T259A)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 12
+1 more
GUncertain significance
BBS12
(Y263*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 12
+2 more
GPathogenic/Likely pathogenic
BBS12
(P632fs)
Microsatellite
(frameshift variant)
BBS12-related condition
+3 more
GPathogenic/Likely pathogenic
BBS12
(V465A)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 12
+2 more
GConflicting classifications of pathogenicity
BBS12
(P249A)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
GUncertain significance
BBS12
(V92I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
BBS12
(T705M)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 12
+3 more
GUncertain significance
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