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Links from MedGen

Items: 1 to 100 of 630

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTM1
(P39fs)
Deletion
(frameshift variant)
Severe X-linked myotubular myopathy
GLikely pathogenic
MTM1
Deletion
(intron variant)
Severe X-linked myotubular myopathy
GBenign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Microsatellite
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
(S546F +2 more)
Single nucleotide variant
(missense variant)
Severe X-linked myotubular myopathy
GUncertain significance
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
(N28S)
Single nucleotide variant
(missense variant)
Severe X-linked myotubular myopathy
GUncertain significance
MTM1
Deletion
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Deletion
(intron variant)
Severe X-linked myotubular myopathy
GBenign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GUncertain significance
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Deletion
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
(R177W +1 more)
Single nucleotide variant
(missense variant)
Severe X-linked myotubular myopathy
GUncertain significance
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
(E119K +1 more)
Single nucleotide variant
(missense variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Duplication
(intron variant)
Severe X-linked myotubular myopathy
GBenign
MTM1
Duplication
(intron variant)
Severe X-linked myotubular myopathy
GBenign
MTM1
(I52M)
Single nucleotide variant
(missense variant)
Severe X-linked myotubular myopathy
GUncertain significance
MTM1
(F150S +1 more)
Single nucleotide variant
(missense variant)
Severe X-linked myotubular myopathy
GUncertain significance
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
(R137G +1 more)
Single nucleotide variant
(missense variant)
Severe X-linked myotubular myopathy
GUncertain significance
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
(P506T +1 more)
Single nucleotide variant
(missense variant)
Severe X-linked myotubular myopathy
GUncertain significance
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
(N268fs +1 more)
Deletion
(frameshift variant)
Severe X-linked myotubular myopathy
GPathogenic
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Insertion
(inframe_insertion)
Severe X-linked myotubular myopathy
GPathogenic
MTM1
Duplication
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Duplication
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
(P589R +2 more)
Single nucleotide variant
(missense variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
(Y9*)
Single nucleotide variant
(nonsense)
Severe X-linked myotubular myopathy
GPathogenic
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
(D225N +1 more)
Single nucleotide variant
(missense variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GBenign
MTM1
(K121fs +1 more)
Deletion
(frameshift variant)
Severe X-linked myotubular myopathy
GPathogenic
MTM1
(V263I +1 more)
Single nucleotide variant
(missense variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GBenign
MTM1
(M558T +2 more)
Single nucleotide variant
(missense variant)
Severe X-linked myotubular myopathy
GUncertain significance
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GUncertain significance
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Deletion
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Duplication
(intron variant)
Severe X-linked myotubular myopathy
GBenign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
(N118Y +1 more)
Single nucleotide variant
(missense variant)
Severe X-linked myotubular myopathy
GUncertain significance
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Duplication
(intron variant)
Severe X-linked myotubular myopathy
GBenign
MTM1
Single nucleotide variant
(synonymous variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Single nucleotide variant
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
Microsatellite
(intron variant)
Severe X-linked myotubular myopathy
GLikely benign
MTM1
(S91M)
Indel
(missense variant +1 more)
Severe X-linked myotubular myopathy
+1 more
GUncertain significance
MTM1
(Q410R +1 more)
Single nucleotide variant
(missense variant)
Severe X-linked myotubular myopathy
+1 more
GUncertain significance
MTM1
Single nucleotide variant
(splice acceptor variant)
Severe X-linked myotubular myopathy
GLikely pathogenic
MTM1
(S556* +2 more)
Single nucleotide variant
(nonsense)
Severe X-linked myotubular myopathy
GLikely pathogenic
MTM1
(L224fs +1 more)
Microsatellite
(frameshift variant)
Severe X-linked myotubular myopathy
GPathogenic
MTM1
Copy number loss
Severe X-linked myotubular myopathy
GPathogenic
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