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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBXO11, MSH6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
FBXO11, MSH6
Single nucleotide variant
(synonymous variant +1 more)
FBXO11-related disorder
GLikely benign
FBXO11, MSH6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
FBXO11
Single nucleotide variant
(intron variant)
FBXO11-related disorder
+1 more
GLikely benign
FBXO11
(K631Q +1 more)
Single nucleotide variant
(missense variant)
FBXO11-related disorder
GLikely pathogenic
FBXO11
(R594H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBXO11
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
FBXO11
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FBXO11
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
FBXO11
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
FBXO11
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
FBXO11
(L349V +1 more)
Single nucleotide variant
(missense variant)
FBXO11-related disorder
GLikely pathogenic
FBXO11
(Q272H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
FBXO11
(T42S +1 more)
Single nucleotide variant
(missense variant)
FBXO11-related disorder
+1 more
GBenign
FBXO11
(A28V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
FBXO11
(E76D)
Single nucleotide variant
(missense variant)
FBXO11-related disorder
GUncertain significance
FBXO11, LOC100506235
Microsatellite
(inframe_insertion)
not provided
+1 more
GConflicting classifications of pathogenicity
FBXO11, LOC100506235
Microsatellite
(inframe_deletion)
not provided
+1 more
GLikely benign
FBXO11, LOC100506235
(Q50P)
Single nucleotide variant
(missense variant)
FBXO11-related disorder
+2 more
GBenign/Likely benign
FBXO11, LOC100506235
(A7V)
Single nucleotide variant
(non-coding transcript variant +1 more)
FBXO11-related disorder
GUncertain significance
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