U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 372

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862722, LOC126862723
+1646 more
Copy number gain
See cases
GPathogenic
LINC00683, LINC00907
+1643 more
Copy number gain
See cases
GPathogenic
DTNA, DYM
+1643 more
Copy number gain
See cases
GPathogenic
LINC01478, LINC01538
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062393, LOC130062394
+1643 more
Copy number gain
See cases
GPathogenic
RNF138, RNF152
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062575, LOC130062576
+1643 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1266 more
Copy number gain
See cases
GPathogenic
SKA1, SKOR2
+1089 more
Copy number gain
See cases
GPathogenic
LOC130062446, LOC130062447
+1266 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+1005 more
Copy number gain
See cases
GPathogenic
ACAA2, ALPK2
+596 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+887 more
Copy number gain
See cases
GPathogenic
ARK2C, ARK2N
+147 more
Copy number loss
See cases
GPathogenic
LOC125371434, LOC125371435
+879 more
Copy number gain
See cases
GPathogenic
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, DYM-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GBenign/Likely benign
DYM, DYM-AS1
(D418N +18 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DYM, DYM-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DYM, DYM-AS1
(D667Y +18 more)
Single nucleotide variant
(missense variant +1 more)
Dyggve-Melchior-Clausen syndrome
+2 more
GUncertain significance
DYM, DYM-AS1
(Y404S +18 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
DYM, DYM-AS1
(G463S +18 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DYM, DYM-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DYM, DYM-AS1
(N573S +18 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DYM, DYM-AS1
(Y457C +18 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DYM, DYM-AS1
(V396fs +18 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
DYM, DYM-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DYM, DYM-AS1
(Y452C +18 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DYM, DYM-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
DYM-AS1, DYM
(V630M +18 more)
Single nucleotide variant
(missense variant +1 more)
Dyggve-Melchior-Clausen syndrome
+1 more
GUncertain significance
DYM, DYM-AS1
(K626fs +18 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
DYM, DYM-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DYM, DYM-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
DYM, DYM-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
DYM, DYM-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
DYM, DYM-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
DYM
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
DYM
(L368P +15 more)
Single nucleotide variant
(missense variant +1 more)
DYM-related disorder
GUncertain significance
DYM
Single nucleotide variant
(synonymous variant +1 more)
DYM-related disorder
GLikely benign
DYM
(R427G +15 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DYM
(P425S +15 more)
Single nucleotide variant
(intron variant +1 more)
Inborn genetic diseases
GUncertain significance
DYM
(A362V +15 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DYM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DYM
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
DYM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DYM
(I530V +15 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DYM
Single nucleotide variant
(synonymous variant +1 more)
Smith-McCort dysplasia
+2 more
GConflicting classifications of pathogenicity
DYM
(R351Q +15 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DYM
(R411W +15 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DYM
(A345V +15 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DYM
(Q593R +15 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
DYM
(F587L +15 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
DYM
(F451S +15 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DYM
Single nucleotide variant
(synonymous variant +1 more)
Smith-McCort dysplasia
+3 more
GBenign/Likely benign
DYM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DYM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DYM
Single nucleotide variant
not provided
GLikely benign
DYM
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely pathogenic
DYM
(L391R +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DYM
(F512L +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DYM
(P381R +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DYM
(T378A +11 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DYM
(R568Q +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
DYM
(R377* +11 more)
Single nucleotide variant
(nonsense +1 more)
Dyggve-Melchior-Clausen syndrome
GUncertain significance
DYM
(D371N +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DYM
(A480T +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DYM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
DYM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DYM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DYM
(C542R +11 more)
Single nucleotide variant
(missense variant +1 more)
Smith-McCort dysplasia 1
GPathogenic
DYM
(I538M +11 more)
Single nucleotide variant
(missense variant +1 more)
Malignant tumor of prostate
GUncertain significance
DYM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DYM
(R342* +11 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
DYM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DYM
(A521S +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DYM
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely pathogenic
DYM
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DYM
Single nucleotide variant
(intron variant)
not provided
GBenign
DYM
Single nucleotide variant
(intron variant)
not provided
GBenign
DYM
Insertion
(intron variant)
DYM-related disorder
GLikely benign
DYM
Single nucleotide variant
(splice donor variant)
Dyggve-Melchior-Clausen syndrome
GPathogenic/Likely pathogenic
DYM
(Y331F +12 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYM
Single nucleotide variant
(synonymous variant)
Smith-McCort dysplasia
+3 more
GConflicting classifications of pathogenicity
DYM
(S319L +12 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DYM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DYM
(Q314* +12 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DYM
(Q502* +12 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DYM
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DYM
(N307D +12 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DYM
(H305fs +12 more)
Microsatellite
(frameshift variant)
Dyggve-Melchior-Clausen syndrome
GPathogenic
DYM
(H305fs +12 more)
Duplication
(frameshift variant)
Dyggve-Melchior-Clausen syndrome
GPathogenic
DYM
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
DYM
Deletion
(intron variant)
Dyggve-Melchior-Clausen syndrome
GUncertain significance
DYM
Single nucleotide variant
Dyggve-Melchior-Clausen syndrome
+2 more
GConflicting classifications of pathogenicity
DYM
Deletion
(intron variant)
not provided
GBenign
DYM
Single nucleotide variant
(intron variant)
not provided
GBenign
Format
Items per page
Sort by
Choose Destination