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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XYLT2
(R48S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
XYLT2
(D56N)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
XYLT2
(R120H)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta
+2 more
GBenign/Likely benign
XYLT2
(V147M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
XYLT2
(A150T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
XYLT2
(V165M)
Single nucleotide variant
(missense variant +1 more)
XYLT2-related disorder
+2 more
GUncertain significance
XYLT2
(E220D)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
XYLT2-related disorder
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
XYLT2-related disorder
+1 more
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
XYLT2-related disorder
+2 more
GConflicting classifications of pathogenicity
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
XYLT2-related disorder
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
XYLT2
(A614V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
XYLT2
(R636H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
XYLT2-related disorder
+1 more
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
XYLT2
(V675M)
Single nucleotide variant
(missense variant +1 more)
XYLT2-related disorder
+2 more
GBenign/Likely benign
XYLT2
(N683S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
XYLT2
(N771S)
Single nucleotide variant
(missense variant +1 more)
Osteogenesis imperfecta
+2 more
GConflicting classifications of pathogenicity
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
XYLT2-related disorder
+1 more
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
XYLT2-related disorder
+2 more
GLikely benign
XYLT2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
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