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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASPM
(K2595fs)
Deletion
(frameshift variant +1 more)
ASPM-related condition
+4 more
GPathogenic
ASPM
(W989*)
Single nucleotide variant
(nonsense)
Microcephaly 1, primary, autosomal recessive
GPathogenic
ASPM
(R980*)
Single nucleotide variant
(nonsense)
Microcephaly 1, primary, autosomal recessive
GPathogenic
LOC123987612, LOC129999780
+2 more
Deletion
Microcephaly 1, primary, autosomal recessive
GPathogenic
MCPH1
(S25* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
MCPH1
(T27R +1 more)
Single nucleotide variant
(missense variant +2 more)
Microcephaly 1, primary, autosomal recessive
Gnot provided
MCPH1
(T143fs +2 more)
Duplication
(frameshift variant)
Microcephaly 1, primary, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
MCPH1
(D314H +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
MCPH1, MCPH1-AS1
(A761V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
MCPH1-AS1, MCPH1
(P828S +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
CENPJ
(S7fs)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
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