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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STIL
(I1251V +4 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
STIL
(T771S +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 7, primary, autosomal recessive
GUncertain significance
STIL
(N498K +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 7, primary, autosomal recessive
GUncertain significance
STIL
(A543V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
STIL
(C503G +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 7, primary, autosomal recessive
+1 more
GUncertain significance
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