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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BAZ2B
(D2107N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(C2100G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(M2040V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(N1994K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(I1900V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(Q1875fs +3 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
BAZ2B
(A1874S +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(Q1748* +3 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
BAZ2B, LOC126806390
(S1453L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B, LOC126806390
(K1434fs +3 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
BAZ2B
(P1336L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
BAZ2B
(D1249Y +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(G1217V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(I1203V +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(D1120E +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(D1120G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(E1110K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(G1097D +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(M1041L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(I1026N +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(K1018T +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
Insertion
(intron variant)
not provided
GUncertain significance
BAZ2B
(Q900H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(K885fs +3 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
BAZ2B
(K876M +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(E830A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(P712fs +2 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
BAZ2B
Deletion
(nonsense)
not provided
GUncertain significance
BAZ2B
(K611E +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(A521V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(G500W +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(S475C +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(P467L +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
BAZ2B
Microsatellite
(nonsense)
not provided
GUncertain significance
BAZ2B
(L205I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(P140L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BAZ2B
(E114Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BAZ2B
(T97R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BAZ2B
(F60S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
BAZ2B
(L34F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
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