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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYM, DYM-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GBenign/Likely benign
DYM
(Q593R +15 more)
Single nucleotide variant
(missense variant +1 more)
Smith-McCort dysplasia
+3 more
GConflicting classifications of pathogenicity
DYM
(R568Q +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
DYM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
DYM
Single nucleotide variant
(synonymous variant)
Dyggve-Melchior-Clausen syndrome
+3 more
GConflicting classifications of pathogenicity
DYM
Single nucleotide variant
(synonymous variant)
Smith-McCort dysplasia
+2 more
GUncertain significance
DYM
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DYM
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GPathogenic
DYM
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DYM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
DYM
(I167N +2 more)
Single nucleotide variant
(missense variant +1 more)
DYM-related condition
+2 more
GBenign
DYM
Single nucleotide variant
(intron variant)
DYM-related condition
+3 more
GConflicting classifications of pathogenicity
DYM
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DYM
(F41fs)
Deletion
(frameshift variant)
not provided
GPathogenic
DYM, LOC130062481
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
DYM, LOC130062481
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
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