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Links from MedGen

Items: 1 to 100 of 7338

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DMD
(L66P +2 more)
Single nucleotide variant
(missense variant +1 more)
Duchenne muscular dystrophy
GUncertain significance
DMD
(K1359* +5 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GLikely pathogenic
UTRN
Single nucleotide variant
(splice donor variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(G1182E +11 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant +1 more)
Duchenne muscular dystrophy
GLikely benign
DMD
(L1093F +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(Q491E +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(R1060G +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(R1956K +8 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(A1235V +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
(K1573E +7 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
(H1504Y +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(V148I +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant +1 more)
Duchenne muscular dystrophy
GUncertain significance
DMD
(D359Y +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant +1 more)
Duchenne muscular dystrophy
GLikely benign
DMD
(T1172I +6 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(K1483R +7 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
(A316D +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(D426E +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(E753V +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
(K890N +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(D908V +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(L337Q +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(V459L +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(S915P +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
(W848L +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(L2004R +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant +1 more)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(L1267F +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant +1 more)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(L231H +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant +1 more)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(D1580N +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(L1239Q +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(V482D +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Deletion
(inframe_indel)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(T3193S +8 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GUncertain significance
DMD
(E2725G +6 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(Q1678H +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(H1646Q +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Duplication
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
Microsatellite
(intron variant)
Duchenne muscular dystrophy
GLikely benign
DMD
(G2151R +5 more)
Single nucleotide variant
(missense variant +1 more)
Duchenne muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
Duchenne muscular dystrophy
GLikely benign
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