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Links from MedGen

Items: 75

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYM
(R377* +11 more)
Single nucleotide variant
(nonsense +1 more)
Dyggve-Melchior-Clausen syndrome
GUncertain significance
Copy number loss
Dyggve-Melchior-Clausen syndrome
GLikely pathogenic
DYM
(W33*)
Single nucleotide variant
(nonsense)
Dyggve-Melchior-Clausen syndrome
GLikely pathogenic
DYM
(Q115* +6 more)
Single nucleotide variant
(nonsense +1 more)
Dyggve-Melchior-Clausen syndrome
GLikely pathogenic
DYM
Deletion
(intron variant)
Dyggve-Melchior-Clausen syndrome
GUncertain significance
DYM
Single nucleotide variant
(splice donor variant)
Dyggve-Melchior-Clausen syndrome
GLikely pathogenic
DYM
(R128* +2 more)
Single nucleotide variant
(nonsense +1 more)
Dyggve-Melchior-Clausen syndrome
+1 more
GPathogenic
DYM
(H202fs +7 more)
Deletion
(frameshift variant)
Dyggve-Melchior-Clausen syndrome
GPathogenic
DYM
(E148fs +2 more)
Duplication
(frameshift variant +1 more)
Dyggve-Melchior-Clausen syndrome
GPathogenic
DYM
(L20*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
DYM
(K19fs)
Insertion
(frameshift variant)
Dyggve-Melchior-Clausen syndrome
GLikely pathogenic
DYM
(S131fs +7 more)
Deletion
(frameshift variant)
Dyggve-Melchior-Clausen syndrome
GPathogenic
DYM
(P161fs +3 more)
Duplication
(frameshift variant +1 more)
Dyggve-Melchior-Clausen syndrome
GPathogenic
DYM
Single nucleotide variant
(splice donor variant)
Dyggve-Melchior-Clausen syndrome
GPathogenic/Likely pathogenic
DYM
(H305fs +12 more)
Microsatellite
(frameshift variant)
Dyggve-Melchior-Clausen syndrome
GPathogenic
DYM
(L159R +7 more)
Single nucleotide variant
(missense variant)
Dyggve-Melchior-Clausen syndrome
GUncertain significance
DYM
(S108P +2 more)
Single nucleotide variant
(missense variant +1 more)
Dyggve-Melchior-Clausen syndrome
GUncertain significance
DYM
(H305fs +12 more)
Duplication
(frameshift variant)
Dyggve-Melchior-Clausen syndrome
GPathogenic
DYM
(A258V +6 more)
Single nucleotide variant
(missense variant +1 more)
Dyggve-Melchior-Clausen syndrome
GUncertain significance
DYM
(S164* +3 more)
Single nucleotide variant
(nonsense +1 more)
Dyggve-Melchior-Clausen syndrome
GPathogenic
DYM
(R342* +11 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
DYM
Single nucleotide variant
(splice acceptor variant)
Dyggve-Melchior-Clausen syndrome
+1 more
GPathogenic/Likely pathogenic
DYM
(D217fs +7 more)
Deletion
(frameshift variant)
Dyggve-Melchior-Clausen syndrome
GPathogenic
DYM
(W33fs)
Duplication
(frameshift variant)
Dyggve-Melchior-Clausen syndrome
GPathogenic
DYM
Single nucleotide variant
Dyggve-Melchior-Clausen syndrome
+2 more
GConflicting classifications of pathogenicity
DYM
(R70* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
DYM
Single nucleotide variant
Smith-McCort dysplasia
+1 more
GBenign
DYM
Single nucleotide variant
(5 prime UTR variant)
Dyggve-Melchior-Clausen syndrome
+1 more
GUncertain significance
DYM, LOC130062481
Single nucleotide variant
(5 prime UTR variant)
Smith-McCort dysplasia
+1 more
GUncertain significance
DYM, LOC130062481
Single nucleotide variant
(5 prime UTR variant)
Smith-McCort dysplasia
+1 more
GUncertain significance
DYM, LOC130062481
Single nucleotide variant
(5 prime UTR variant)
Smith-McCort dysplasia
+1 more
GUncertain significance
DYM, LOC130062481
Single nucleotide variant
(5 prime UTR variant)
Smith-McCort dysplasia
+1 more
GUncertain significance
DYM, LOC130062481
Single nucleotide variant
(5 prime UTR variant)
Smith-McCort dysplasia
+1 more
GUncertain significance
LOC130062481, DYM
Single nucleotide variant
(5 prime UTR variant)
Smith-McCort dysplasia
+1 more
GUncertain significance
DYM, LOC130062481
Single nucleotide variant
(5 prime UTR variant)
Dyggve-Melchior-Clausen syndrome
+1 more
GUncertain significance
DYM, LOC130062481
Single nucleotide variant
(5 prime UTR variant)
Smith-McCort dysplasia
+1 more
GUncertain significance
DYM
(R7S)
Single nucleotide variant
(missense variant)
Smith-McCort dysplasia
+2 more
GUncertain significance
DYM
(N14K)
Single nucleotide variant
(missense variant)
DYM-related disorder
+2 more
GUncertain significance
DYM
Single nucleotide variant
(intron variant)
Connective tissue disorder
+3 more
GBenign
DYM
Single nucleotide variant
(synonymous variant +1 more)
Smith-McCort dysplasia
+1 more
GUncertain significance
DYM
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
DYM
Single nucleotide variant
(synonymous variant +1 more)
Smith-McCort dysplasia
+3 more
GBenign/Likely benign
DYM
(S141G +1 more)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+3 more
GBenign/Likely benign
DYM
(E191D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
DYM
Single nucleotide variant
(synonymous variant +1 more)
Dyggve-Melchior-Clausen syndrome
+1 more
GUncertain significance
DYM
(A307V +6 more)
Single nucleotide variant
(missense variant +1 more)
DYM-related disorder
+2 more
GUncertain significance
DYM
(P321S +7 more)
Single nucleotide variant
(missense variant)
Dyggve-Melchior-Clausen syndrome
+1 more
GUncertain significance
DYM
(A327D +7 more)
Single nucleotide variant
(missense variant)
Dyggve-Melchior-Clausen syndrome
+3 more
GUncertain significance
DYM
(M372T +7 more)
Single nucleotide variant
(missense variant)
Dyggve-Melchior-Clausen syndrome
+1 more
GUncertain significance
DYM
(M372I +7 more)
Single nucleotide variant
(missense variant)
Dyggve-Melchior-Clausen syndrome
+1 more
GUncertain significance
DYM
Single nucleotide variant
(intron variant)
Dyggve-Melchior-Clausen syndrome
+2 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)
Smith-McCort dysplasia
+3 more
GBenign/Likely benign
DYM
(F587L +15 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
DYM
Single nucleotide variant
(synonymous variant +1 more)
Smith-McCort dysplasia
+2 more
GConflicting classifications of pathogenicity
DYM
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
DYM-AS1, DYM
(V630M +18 more)
Single nucleotide variant
(missense variant +1 more)
Dyggve-Melchior-Clausen syndrome
+1 more
GUncertain significance
DYM, DYM-AS1
(D667Y +18 more)
Single nucleotide variant
(missense variant +1 more)
Dyggve-Melchior-Clausen syndrome
+2 more
GUncertain significance
DYM, DYM-AS1
Single nucleotide variant
(3 prime UTR variant)
Dyggve-Melchior-Clausen syndrome
+1 more
GUncertain significance
DYM, DYM-AS1
Single nucleotide variant
(3 prime UTR variant)
Smith-McCort dysplasia
+1 more
GLikely benign
DYM, DYM-AS1
Single nucleotide variant
(3 prime UTR variant)
Dyggve-Melchior-Clausen syndrome
+1 more
GUncertain significance
DYM
Single nucleotide variant
(intron variant)
DYM-related disorder
+3 more
GConflicting classifications of pathogenicity
DYM
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DYM
(Q593R +15 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
DYM
Single nucleotide variant
(synonymous variant)
Smith-McCort dysplasia
+3 more
GConflicting classifications of pathogenicity
DYM
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GPathogenic
DYM
Single nucleotide variant
(synonymous variant)
Smith-McCort dysplasia
+2 more
GUncertain significance
DYM
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
DYM
Single nucleotide variant
(splice acceptor variant +1 more)
Dyggve-Melchior-Clausen syndrome
GPathogenic
DYM, DYM-AS1
(K626fs +18 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
DYM
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
DYM
(N469Y +7 more)
Single nucleotide variant
(missense variant)
Dyggve-Melchior-Clausen syndrome
GPathogenic
DYM
(Y132* +1 more)
Single nucleotide variant
(nonsense +1 more)
Smith-McCort dysplasia 1
+3 more
GPathogenic/Likely pathogenic
DYM
(T255fs +6 more)
Deletion
(frameshift variant +1 more)
Dyggve-Melchior-Clausen syndrome
GPathogenic
DYM
(Y16*)
Single nucleotide variant
(nonsense)
Dyggve-Melchior-Clausen syndrome
GPathogenic
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