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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SHH
(G136R)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GBenign
SHH
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SHH
(G290D)
Single nucleotide variant
(missense variant +1 more)
Schizencephaly
+5 more
GBenign/Likely benign
SHH
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
SHH
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign/Likely benign
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