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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNB1
Single nucleotide variant
(splice acceptor variant)
Microcephaly 26, primary, autosomal dominant
GLikely pathogenic
LMNB1
(A152V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Microcephaly 26, primary, autosomal dominant
GLikely benign
LMNB1
(L170F +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 26, primary, autosomal dominant
GUncertain significance
LMNB1
Single nucleotide variant
(intron variant)
Microcephaly 26, primary, autosomal dominant
+2 more
GBenign/Likely benign
LMNB1
(R90P)
Single nucleotide variant
(missense variant +2 more)
Microcephaly 26, primary, autosomal dominant
GPathogenic
LMNB1
Deletion
(splice acceptor variant +1 more)
Microcephaly 26, primary, autosomal dominant
+1 more
GPathogenic
LMNB1
Single nucleotide variant
(splice donor variant)
Microcephaly 26, primary, autosomal dominant
+1 more
GPathogenic
LMNB1
(R42W)
Single nucleotide variant
(missense variant +2 more)
Microcephaly 26, primary, autosomal dominant
+1 more
GPathogenic
LMNB1
(K33E)
Single nucleotide variant
(missense variant +2 more)
Microcephaly 26, primary, autosomal dominant
+1 more
GPathogenic
LMNB1
(A152G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Microcephaly 26, primary, autosomal dominant
+1 more
GPathogenic
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