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Links from OMIM

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LEMD2
(S177F +2 more)
Single nucleotide variant
(missense variant)
Growth delay
+19 more
GConflicting classifications of pathogenicity
BANF1
(A12T)
Single nucleotide variant
(missense variant)
Nestor-Guillermo progeria syndrome
GPathogenic
LOC126805877, LMNA
(S143F +2 more)
Single nucleotide variant
(missense variant)
Congenital muscular dystrophy due to LMNA mutation
GPathogenic
LMNA
(R298C +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive axonal hereditary motor and sensory neuropathy
+5 more
GConflicting classifications of pathogenicity
LMNA
(R377H +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
LMNA
(N195K +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+2 more
GPathogenic
SGCD
(S151A +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
SYNE1
(V8339L +3 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
+1 more
GUncertain significance
SYNE2
(T6211M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
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