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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMC3
(A2V)
Single nucleotide variant
(missense variant)
Occipital pachygyria and polymicrogyria
GUncertain significance
LAMC3
(M22fs)
Deletion
(frameshift variant)
Occipital pachygyria and polymicrogyria
GLikely pathogenic
LAMC3
(T406M)
Single nucleotide variant
(missense variant)
Occipital pachygyria and polymicrogyria
+1 more
GUncertain significance
LAMC3
(R444C)
Single nucleotide variant
(missense variant)
Occipital pachygyria and polymicrogyria
+2 more
GUncertain significance
LAMC3
(L827fs)
Deletion
(frameshift variant)
Occipital pachygyria and polymicrogyria
GLikely pathogenic
LAMC3
(R1291*)
Single nucleotide variant
(nonsense)
Occipital pachygyria and polymicrogyria
+1 more
GConflicting classifications of pathogenicity
LAMC3
(A1555T)
Single nucleotide variant
(missense variant)
Occipital pachygyria and polymicrogyria
GUncertain significance
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