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Items: 1 to 100 of 1507

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LINC01892, LINC01895
+379 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+373 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+378 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AKAIN1
+161 more
Copy number loss
See cases
GPathogenic
LINC00668, LINC01254
+379 more
Copy number gain
See cases
GPathogenic
LOC105372173, LOC105372179
+1646 more
Copy number gain
See cases
GPathogenic
LOC130062116, LOC130062117
+162 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+368 more
Copy number loss
See cases
GPathogenic
LOC126862690, LOC126862691
+195 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+300 more
Copy number gain
See cases
GUncertain significance
ADCYAP1, AFG3L2
+374 more
Copy number loss
See cases
GPathogenic
ADCYAP1, CETN1
+120 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AKAIN1
+145 more
Copy number loss
See cases
GPathogenic
MYOM1, NDC80
+184 more
Copy number loss
See cases
GPathogenic
LOC105372069, LOC105372071
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, CETN1
+118 more
Copy number loss
See cases
GLikely pathogenic
LINC00470, LINC00526
+367 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number gain
See cases
GPathogenic
ADCYAP1, CETN1
+119 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AKAIN1
+237 more
Copy number loss
See cases
GPathogenic
LOC125368546, LOC125368547
+368 more
Copy number loss
See cases
GPathogenic
ADCYAP1, CETN1
+83 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+374 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
See cases
GPathogenic
ADCYAP1, CETN1
+120 more
Copy number loss
See cases
GPathogenic
LOC130062172, LOC130062173
+368 more
Copy number gain
See cases
GPathogenic
RAB31, RALBP1
+374 more
Copy number gain
See cases
GPathogenic
LOC121852961, LOC121852962
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, CETN1
+114 more
Copy number loss
See cases
GPathogenic
ADCYAP1, CETN1
+63 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+374 more
Copy number gain
See cases
GPathogenic
LOC130062369, LOC130062370
+1643 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
See cases
GPathogenic
LOC130062321, LOC130062322
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062167, LOC130062168
+245 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AKAIN1
+143 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+327 more
Copy number loss
See cases
GPathogenic
LOC130062212, LOC130062213
+344 more
Copy number loss
See cases
GPathogenic
LOC130062687, LOC130062688
+1642 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+375 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+358 more
Copy number loss
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
See cases
GPathogenic
ABHD3, ACAA2
+1643 more
Copy number gain
See cases
GPathogenic
METTL4, MIR6718
+131 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AKAIN1
+127 more
Copy number loss
See cases
GPathogenic
CDH7, CELF4
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062768, LOC130062769
+1642 more
Copy number gain
See cases
GPathogenic
ADCYAP1, AFG3L2
+367 more
Copy number loss
Deletion of short arm of chromosome 18
GPathogenic
TGIF1, THOC1
+241 more
Copy number loss
See cases
GPathogenic
ADCYAP1, CETN1
+113 more
Copy number gain
See cases
GPathogenic
LOC112543419, LOC112543420
+246 more
Copy number loss
See cases
GPathogenic
LOC130062147, LOC130062148
+339 more
Copy number gain
See cases
GPathogenic
AKAIN1, ANKRD12
+230 more
Copy number gain
See cases
GPathogenic
AKAIN1, DLGAP1
+109 more
Copy number loss
See cases
GPathogenic
LOC125338464, LOC126862679
+9 more
Copy number gain
See cases
GLikely benign
SMCHD1
Single nucleotide variant
not provided
GBenign
LOC130062083, SMCHD1
Single nucleotide variant
not provided
GBenign
LOC130062083, SMCHD1
Single nucleotide variant
not provided
GBenign
LOC130062084, SMCHD1
Duplication
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
(M1R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SMCHD1
(A4V)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
Single nucleotide variant
(synonymous variant)
Facioscapulohumeral muscular dystrophy 2
GLikely benign
SMCHD1
(D5E)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
(G6V)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
(G7S)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
Single nucleotide variant
(synonymous variant)
Facioscapulohumeral muscular dystrophy 2
GLikely benign
SMCHD1
(T16fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
SMCHD1
(G10V)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
(A12T)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
(A12D)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
(S13A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SMCHD1
(S13F)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
(V14M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SMCHD1
(G15W)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
Single nucleotide variant
(synonymous variant)
Facioscapulohumeral muscular dystrophy 2
GLikely benign
SMCHD1
(T16S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SMCHD1
(T16I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMCHD1
(E18del)
Microsatellite
(inframe_deletion)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
(E18D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
SMCHD1
(D19H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SMCHD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SMCHD1
(G24D)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
(H25R)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
(R26W)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
(T27A)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
(T27M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMCHD1
(Y29*)
Single nucleotide variant
(nonsense)
Facioscapulohumeral muscular dystrophy 2
GPathogenic
SMCHD1
(L30W)
Single nucleotide variant
(missense variant)
Scapulohumeral muscular dystrophy
GUncertain significance
SMCHD1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SMCHD1
(D32N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMCHD1
Single nucleotide variant
(synonymous variant)
Facioscapulohumeral muscular dystrophy 2
GLikely benign
SMCHD1
(E37K)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
Single nucleotide variant
(synonymous variant)
Facioscapulohumeral muscular dystrophy 2
GLikely benign
SMCHD1
Single nucleotide variant
(synonymous variant)
Facioscapulohumeral muscular dystrophy 2
GLikely benign
SMCHD1
Single nucleotide variant
(synonymous variant)
Facioscapulohumeral muscular dystrophy 2
GLikely benign
SMCHD1
(D42fs)
Deletion
(frameshift variant)
not provided
GPathogenic
SMCHD1
(G41R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMCHD1
(P44T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMCHD1
(P44L)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
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