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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHSY1
(N573S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHSY1
(I534L)
Single nucleotide variant
(missense variant)
Temtamy preaxial brachydactyly syndrome
+1 more
GUncertain significance
CHSY1
(M442T)
Single nucleotide variant
(missense variant)
Temtamy preaxial brachydactyly syndrome
+2 more
GBenign/Likely benign
CHSY1
(R233W)
Single nucleotide variant
(missense variant)
Temtamy preaxial brachydactyly syndrome
GUncertain significance
CHSY1
Single nucleotide variant
(synonymous variant)
Temtamy preaxial brachydactyly syndrome
+1 more
GBenign/Likely benign
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