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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
GUCA1A, GUCA1ANB-GUCA1A
Deletion
(inframe_deletion)
not provided
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GUCA1A, GUCA1ANB-GUCA1A
(S51L)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
GUCA1A, GUCA1ANB-GUCA1A
(I122V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GUCA1A, GUCA1ANB-GUCA1A
(L176F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
GUCA1A, GUCA1ANB-GUCA1A
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
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