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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GOLGA6B
(R229Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(R242W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(A304V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(V311L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(G313V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(A327P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(E334K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(E350Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(R355W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(R368W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(T373M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(E376K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(R389C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(E393K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(E393G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(R396Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(K425N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(E427K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(R429G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(A431T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(A431V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(Q464H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(L478R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(G504E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(E511Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(R516Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(R528W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(V571A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(V601L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(A626T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
GOLGA6B
(Q642L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(G648S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(D676N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(N677S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GOLGA6B
(M690T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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