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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLTC
Single nucleotide variant
(splice donor variant)
Intellectual disability, autosomal dominant 56
GPathogenic
DYNC2H1
Single nucleotide variant
(intron variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
DYNC2H1
(I3828R +1 more)
Single nucleotide variant
(missense variant)
Asphyxiating thoracic dystrophy 3
GUncertain significance
STIL
(L735fs +1 more)
Deletion
(frameshift variant)
Microcephaly 7, primary, autosomal recessive
GLikely pathogenic
STIL
(R1279C +4 more)
Single nucleotide variant
(missense variant)
Microcephaly 7, primary, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
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