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Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SEMA6A
(V1027I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(L1023R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(T1003M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(L1017V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(H989Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(Q970P +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
SEMA6A
(N958H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(T932S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(A931T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(A948P +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SEMA6A
(L942F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(K917N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(R903W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(A893D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(P908Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(P908L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SEMA6A
(L870P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(S860G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(I855S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(L860P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(K851R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(V847A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(T838M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(P836S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(I812V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(S808F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(S808P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(P793A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(G773S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(R785W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(K784N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(Q747K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SEMA6A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SEMA6A
(E538G)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SEMA6A
(D530N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(R517Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(S498F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(G489D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(M488T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(Y479C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(T427P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(I423T)
Single nucleotide variant
(missense variant)
Delayed puberty, self-limited
GLikely pathogenic
SEMA6A
(M398K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(N382S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(Y378H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(S372L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(N320S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(G307R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(I305M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(A298E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(S289A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SEMA6A
(E158A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SEMA6A
(D129N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(D103N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SEMA6A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SEMA6A
(L68V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SEMA6A
(M64I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(M62I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(R55G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(R48Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(G17A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
(A5D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEMA6A
Copy number loss
not provided
GUncertain significance
SEMA6A
Copy number gain
not provided
GUncertain significance
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