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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STIL
(Q1239* +4 more)
Single nucleotide variant
(nonsense)
Microcephaly 7, primary, autosomal recessive
GPathogenic
STIL
Deletion
(nonsense)
Microcephaly 7, primary, autosomal recessive
GPathogenic
STIL
(A1146V +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
STIL
(H986R +4 more)
Single nucleotide variant
(missense variant)
Microcephaly 7, primary, autosomal recessive
Gnot provided
STIL
(S953Y +4 more)
Single nucleotide variant
(missense variant)
Microcephaly 7, primary, autosomal recessive
Gnot provided
STIL
Single nucleotide variant
(splice donor variant)
Microcephaly 7, primary, autosomal recessive
GPathogenic
STIL
(Q421H +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 7, primary, autosomal recessive
Gnot provided
STIL
(Q421P +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 7, primary, autosomal recessive
Gnot provided
STIL
(A86V)
Single nucleotide variant
(missense variant)
not specified
+2 more
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