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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS12
(I39T)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
BBS12
(N71S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
BBS12
(E126D)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+3 more
GBenign/Likely benign
BBS12
(S281C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BBS12
Single nucleotide variant
(synonymous variant)
BBS12-related condition
+2 more
GConflicting classifications of pathogenicity
BBS12
(S327T)
Single nucleotide variant
(missense variant)
BBS12-related condition
+2 more
GConflicting classifications of pathogenicity
BBS12
(K379E)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+3 more
GUncertain significance
BBS12
(R386Q)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
BBS12
(V400M)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 12
+4 more
GUncertain significance
BBS12
(S429T)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+4 more
GBenign/Likely benign
BBS12
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
BBS12
(N461H)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
BBS12
(D467N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign
BBS12
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
BBS12
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BBS12
(L553H)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome 12
+2 more
GUncertain significance
BBS12
(W568*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
BBS12
(T617A)
Single nucleotide variant
(missense variant)
Bardet-Biedl syndrome
+3 more
GUncertain significance
BBS12
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
BBS12
(R674C)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
BBS12
(R674H)
Single nucleotide variant
(missense variant)
BBS12-related condition
+3 more
GUncertain significance
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