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Items: 1 to 100 of 821

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059330, LOC130059331
+599 more
Copy number gain
See cases
GPathogenic
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+939 more
Copy number gain
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059420, LOC130059421
+869 more
Copy number gain
See cases
GPathogenic
CDH1, CDH3
+39 more
Copy number gain
See cases
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Insertion
(non-coding transcript variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Duplication
(non-coding transcript variant)
EEM syndrome
GBenign
CDH3, CDH3-AS1
Insertion
(non-coding transcript variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Insertion
(non-coding transcript variant)
EEM syndrome
+1 more
GUncertain significance
CDH3, CDH3-AS1
Microsatellite
(non-coding transcript variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant)
EEM syndrome
+1 more
GBenign
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant)
EEM syndrome
GLikely benign
CDH3-AS1, CDH3
Single nucleotide variant
(non-coding transcript variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(5 prime UTR variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Microsatellite
(5 prime UTR variant +1 more)
CDH3-related disorder
GLikely benign
CDH3, CDH3-AS1
Single nucleotide variant
(5 prime UTR variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
(M1I)
Single nucleotide variant
(missense variant +2 more)
Retinitis pigmentosa
GLikely pathogenic
CDH3, CDH3-AS1
(G2R)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CDH3-AS1, CDH3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDH3, CDH3-AS1
(R5C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
(R5H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
(L14del)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDH3, CDH3-AS1
(L12F)
Single nucleotide variant
(missense variant +1 more)
EEM syndrome
+2 more
GUncertain significance
CDH3-AS1, CDH3
(Q15R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(intron variant)
EEM syndrome
+1 more
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
CDH3, CDH3-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH3, CDH3-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH3, CDH3-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
CDH3, CDH3-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH3, CDH3-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH3, CDH3-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH3, CDH3-AS1
Single nucleotide variant
(intron variant)
EEM syndrome
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH3, CDH3-AS1
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GLikely pathogenic
CDH3, CDH3-AS1
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GLikely pathogenic
CDH3, CDH3-AS1
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GLikely pathogenic
CDH3, CDH3-AS1
(W18R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDH3, CDH3-AS1
(Q20R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
(A22V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CDH3, CDH3-AS1
(A22E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CDH3, CDH3-AS1
(P26R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CDH3, CDH3-AS1
(P26L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDH3, CDH3-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDH3, CDH3-AS1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CDH3, CDH3-AS1
(A34T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CDH3, CDH3-AS1
(A34V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDH3, CDH3-AS1
(E35K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDH3, CDH3-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDH3, CDH3-AS1
(T37S)
Single nucleotide variant
(missense variant +1 more)
EEM syndrome
+2 more
GConflicting classifications of pathogenicity
CDH3, CDH3-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDH3, CDH3-AS1
(E39del)
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
(A40fs)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
CDH3, CDH3-AS1
(A40E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
(G42D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
(P47T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(synonymous variant +1 more)
EEM syndrome
+2 more
GBenign
CDH3, CDH3-AS1
(G48R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CDH3, CDH3-AS1
(Q49R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
(K53R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH3, CDH3-AS1
Single nucleotide variant
(splice donor variant +1 more)
not provided
+1 more
GPathogenic
CDH3, CDH3-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH3, CDH3-AS1
Single nucleotide variant
(intron variant)
EEM syndrome
+2 more
GBenign
CDH3
Single nucleotide variant
(intron variant)
not provided
GBenign
CDH3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH3
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CDH3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CDH3
(M56V +1 more)
Single nucleotide variant
(missense variant +1 more)
EEM syndrome
+1 more
GUncertain significance
CDH3
(C3Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH3
(G60R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH3
(A64S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CDH3
(A64V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH3
(D72N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDH3
(V75fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
CDH3
(R76W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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