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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHSY1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
CHSY1
(R591H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHSY1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHSY1
(M442T)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
CHSY1
(Y436C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHSY1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
CHSY1
(H329R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CHSY1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CHSY1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
CHSY1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC130058068, CHSY1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CHSY1, LOC130058068
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHSY1, LOC130058068
(A8P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHSY1, LOC130058068
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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