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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CERS1, GDF1
(Q297H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CERS1, GDF1
(W203*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
CERS1, GDF1
(A118V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
CERS1, GDF1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
CERS1, GDF1
(L19V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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