U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 997

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
SUN2, GTPBP1
(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
(5 prime UTR 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)
Emery-Dreifuss muscular dystrophy
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
SUN1
(D32N +2 more)
Single nucleotide variant
(missense variant +3 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
Single nucleotide variant
(synonymous variant)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN2
(S105C +4 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
Single nucleotide variant
(synonymous variant +2 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
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
Single nucleotide variant
(synonymous variant +2 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN2
(R119K +2 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN2
(A184P +6 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
(D326Y +6 more)
Single nucleotide variant
(intron variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
(R190C +6 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
(S763K)
Indel
(synonymous variant +2 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
Single nucleotide variant
(synonymous variant +1 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN2
(S62C)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
Single nucleotide variant
(synonymous variant +3 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
(R53C +3 more)
Single nucleotide variant
(missense variant +3 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN2
(Q31R)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN2
(R7C)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
(D372G +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ANKRD54, BAIAP2L2
+50 more
Deletion
Infantile neuroaxonal dystrophy
+2 more
GConflicting classifications of pathogenicity
SUN1
Single nucleotide variant
(intron variant +2 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN2
Single nucleotide variant
(synonymous variant +1 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
SUN1
(R127C +3 more)
Single nucleotide variant
(missense variant +3 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
SUN1
(A347T +50 more)
Single nucleotide variant
(missense variant +1 more)
Emery-Dreifuss muscular dystrophy
GUncertain significance
GTPBP1, SUN2
(L687V)
Single nucleotide variant
(intron variant +1 more)
Emery-Dreifuss muscular dystrophy
GLikely benign
Format
Items per page
Sort by
Choose Destination