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Links from MedGen

Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS5, LOC129935068
(M1L)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 5
+1 more
GPathogenic/Likely pathogenic
BBS5
(K141*)
Duplication
(nonsense)
Bardet-Biedl syndrome 5
GPathogenic
BBS5
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 5
GUncertain significance
BBS5
Deletion
(splice donor variant)
Bardet-Biedl syndrome 5
GLikely pathogenic
BBS5
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome 5
GPathogenic
BBS5, LOC129935068
(M1V)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 5
GPathogenic
BBS5
Deletion
Bardet-Biedl syndrome 5
GPathogenic
BBS5
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GLikely benign
BBS5
(Y257C)
Single nucleotide variant
(missense variant)
BBS5-related condition
+2 more
GUncertain significance
BBS5
(H190P)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS5, LOC129935068
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 5
+1 more
GUncertain significance
BBS5
(E223V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS5
(I109V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS5
Single nucleotide variant
(intron variant)
BBS5-related condition
+2 more
GConflicting classifications of pathogenicity
BBS5
(P275L)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS5
(G264V)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 5
GUncertain significance
BBS5
(V300fs)
Deletion
(frameshift variant)
Bardet-Biedl syndrome 5
GLikely pathogenic
BBS5
(L142*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 5
+1 more
GPathogenic
BBS5
Deletion
(intron variant)
Bardet-Biedl syndrome 5
+1 more
GBenign/Likely benign
BBS5
(I187fs)
Insertion
(frameshift variant)
Bardet-Biedl syndrome 5
GPathogenic
BBS5
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GConflicting classifications of pathogenicity
BBS5
(V71I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
BBS5
Deletion
(nonsense)
Bardet-Biedl syndrome
+1 more
GPathogenic
BBS5
(E158K)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 5
+1 more
GUncertain significance
BBS5
(S103N)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS5
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS5
(T111I)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 5
+2 more
GUncertain significance
BBS5
(I37T)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+2 more
GUncertain significance
BBS5
(E282K)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 5
+1 more
GUncertain significance
BBS5
(N102*)
Duplication
(nonsense)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS5
(H159Y)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GUncertain significance
BBS5
(I31T)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 5
+2 more
GUncertain significance
BBS5, LOC129935068
(R11Q)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 5
+5 more
GUncertain significance
BBS5
(N198S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 5
+2 more
GConflicting classifications of pathogenicity
BBS5
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GConflicting classifications of pathogenicity
BBS5, LOC129935068
(M1K)
Single nucleotide variant
(missense variant +1 more)
Bardet-Biedl syndrome 5
GPathogenic
BBS5
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+3 more
GLikely benign
BBS5
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome
+3 more
GBenign/Likely benign
BBS5
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome 5
+2 more
GLikely benign
BBS5
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 5
GLikely pathogenic
BBS5
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome
+3 more
GPathogenic/Likely pathogenic
BBS5
Single nucleotide variant
(splice donor variant)
Bardet-Biedl syndrome 5
GPathogenic
BBS5
Single nucleotide variant
(splice acceptor variant)
Bardet-Biedl syndrome
+1 more
GLikely pathogenic
BBS5
(R89*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome
+2 more
GPathogenic
BBS5
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GUncertain significance
BBS5
(A323fs)
Duplication
(frameshift variant)
Bardet-Biedl syndrome 5
GPathogenic/Likely pathogenic
BBS5
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 5
+2 more
GBenign/Likely benign
BBS5
(N251D)
Single nucleotide variant
(missense variant)
BBS5-related condition
+4 more
GConflicting classifications of pathogenicity
BBS5
(N68S)
Single nucleotide variant
(missense variant)
BBS5-related condition
+2 more
GUncertain significance
BBS5, LOC129935068
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GBenign
BBS5
(G178R)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 5
GLikely pathogenic
BBS5
(T183A)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 5
GPathogenic
BBS5
(G72S)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+1 more
GPathogenic/Likely pathogenic
BBS5
(W59*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome
GPathogenic
BBS5
Indel
Bardet-Biedl syndrome 5
GPathogenic
BBS5
(L142*)
Single nucleotide variant
(nonsense)
Bardet-Biedl syndrome 5
GPathogenic
BBS5
Single nucleotide variant
(intron variant)
Bardet-Biedl syndrome
GPathogenic
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