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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BAAT
(P84T)
Single nucleotide variant
(missense variant)
Bile acid conjugation defect 1
GPathogenic
BAAT
(R20*)
Single nucleotide variant
(nonsense)
Bile acid conjugation defect 1
GPathogenic
BAAT
(D69V)
Single nucleotide variant
(missense variant)
Bile acid conjugation defect 1
GPathogenic
BAAT
(G386R)
Single nucleotide variant
(missense variant)
Bile acid conjugation defect 1
GPathogenic
BAAT
(V229I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BAAT
(L284*)
Single nucleotide variant
(nonsense)
Bile acid conjugation defect 1
+1 more
GUncertain significance
BAAT
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
BAAT
(R20Q)
Single nucleotide variant
(missense variant)
Hypercholanemia, familial 1
+3 more
GBenign
BAAT
(M1K)
Single nucleotide variant
(missense variant +1 more)
Bile acid conjugation defect 1
+1 more
GUncertain significance
BAAT
(T254M)
Single nucleotide variant
(missense variant)
Bile acid conjugation defect 1
+2 more
GConflicting classifications of pathogenicity
BAAT
(M76V)
Single nucleotide variant
(missense variant)
Bile acid conjugation defect 1
GPathogenic
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