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Links from MedGen

Items: 1 to 100 of 1025

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SUN1
Duplication
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
Duplication
Emery-Dreifuss muscular dystrophy
GUncertain significance
DNAAF5, SUN1
Deletion
Emery-Dreifuss muscular dystrophy
GUncertain significance
DNAAF5, FAM20C
+3 more
Deletion
Emery-Dreifuss muscular dystrophy
GUncertain significance
LZTR1
(W165*)
Single nucleotide variant
(nonsense)
Emery-Dreifuss muscular dystrophy
+1 more
GPathogenic
SUN2
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN2
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
GTPBP1, SUN2
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
(R588* +9 more)
Single nucleotide variant
(nonsense)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
(A189G +6 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN2
(S19G)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
(I569T +50 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
Single nucleotide variant
(synonymous variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
GTPBP1, SUN2
(A323T +6 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN2
(A56V)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
(H190R +45 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
(W100S +4 more)
Single nucleotide variant
(missense variant +2 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
Single nucleotide variant
(synonymous variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
(S349T +50 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
(Q110K +45 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
(Y396* +50 more)
Single nucleotide variant
(nonsense +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
(T514R +50 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
LOC126859921, SUN1
(A24V +1 more)
Single nucleotide variant
(missense variant +3 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
(K34R +3 more)
Single nucleotide variant
(missense variant +3 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN2
Single nucleotide variant
(synonymous variant +1 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
GTPBP1, SUN2
(L325P +6 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
Single nucleotide variant
(synonymous variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
(Q268R +50 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
(V31L +3 more)
Single nucleotide variant
(missense variant +3 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
GTPBP1, SUN2
(V449A +9 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
GTPBP1, SUN2
Single nucleotide variant
(synonymous variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
(L692V +62 more)
Single nucleotide variant
(missense variant +2 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
(W231* +6 more)
Single nucleotide variant
(nonsense +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN2
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN2
Single nucleotide variant
(synonymous variant +1 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
Deletion
(intron variant)
Emery-Dreifuss muscular dystrophy
GBenign
SUN1
Single nucleotide variant
(synonymous variant +1 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
(R130* +4 more)
Single nucleotide variant
(nonsense +2 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN2
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
Single nucleotide variant
(synonymous variant +1 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
(G182S +5 more)
Single nucleotide variant
(missense variant +4 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
GTPBP1, SUN2
(R275C +6 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
(Q337R +50 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN2
Single nucleotide variant
(synonymous variant +1 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
(Q408R +44 more)
Single nucleotide variant
(missense variant +2 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
GTPBP1, SUN2
(L167P +6 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
(H396Y +9 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN2
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN2, GTPBP1
(T491M +9 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
(R303Q +8 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
Single nucleotide variant
(synonymous variant +1 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
(R340Q +50 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
(Q370R +50 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN2
(S171T +4 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
Single nucleotide variant
(synonymous variant +3 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
GTPBP1, SUN2
Single nucleotide variant
(synonymous variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
GTPBP1, SUN2
(Q335E +8 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
(T762A)
Single nucleotide variant
(synonymous variant +2 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
(V215L +45 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
Single nucleotide variant
(synonymous variant +1 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
GTPBP1, SUN2
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
Single nucleotide variant
(synonymous variant +1 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
Single nucleotide variant
(synonymous variant +2 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
Single nucleotide variant
(synonymous variant +2 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
Deletion
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN2
(G230S +6 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
Single nucleotide variant
(synonymous variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
GTPBP1, SUN2
(G306A +8 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
(A601V +9 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
(P758S)
Single nucleotide variant
(synonymous variant +2 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN2
(S43L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
SUN2
Single nucleotide variant
(synonymous variant +1 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
Single nucleotide variant
(synonymous variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
(R481H +9 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
(Q186* +45 more)
Single nucleotide variant
(nonsense +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
(R146Q +45 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
Single nucleotide variant
(synonymous variant +1 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
(P53R)
Single nucleotide variant
(synonymous variant +4 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
(R71Q +2 more)
Single nucleotide variant
(missense variant +3 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
LOC126859921, SUN1
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
GTPBP1, SUN2
(I357T +8 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
GTPBP1, SUN2
(R261H +6 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
Single nucleotide variant
(synonymous variant +3 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
GTPBP1, SUN2
(R560L +9 more)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
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