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Items: 1 to 100 of 475

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABR, ABR-AS1
+962 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+463 more
Copy number loss
See cases
GPathogenic
MIR4521, MIR497
+922 more
Copy number gain
See cases
GPathogenic
OR1D4, OR1D5
+651 more
Copy number loss
See cases
GPathogenic
C17orf107, C17orf114
+498 more
Copy number loss
See cases
GPathogenic
LOC130060077, LOC130060078
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
LOC130060025, LOC130060026
+458 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+303 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+604 more
Copy number gain
See cases
GPathogenic
ABR, ABR-AS1
+243 more
Copy number loss
See cases
GPathogenic
ABR, ABR-AS1
+352 more
Copy number loss
See cases
GPathogenic
ASPA, CCDC92B
+174 more
Copy number gain
See cases
GLikely pathogenic
ALOX15, ANKFY1
+303 more
Copy number loss
See cases
GPathogenic
OR1E2, OR1G1
+166 more
Copy number gain
See cases
GPathogenic
ANKFY1, ASPA
+126 more
Copy number gain
See cases
GPathogenic
ASPA, CTNS
+33 more
Copy number gain
See cases
GUncertain significance
ASPA, CTNS
+28 more
Copy number gain
See cases
GUncertain significance
ASPA, LOC100288728
+12 more
Copy number loss
See cases
GBenign
ASPA, CTNS
+47 more
Copy number gain
See cases
GLikely benign
ASPA, CAMKK1
+48 more
Copy number gain
See cases
GUncertain significance
ASPA, CAMKK1
+48 more
Copy number gain
See cases
GUncertain significance
ASPA, SPATA22
Single nucleotide variant
(5 prime UTR variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
Single nucleotide variant
(5 prime UTR variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
Single nucleotide variant
(5 prime UTR variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
(M1T)
Single nucleotide variant
(missense variant +2 more)
Spongy degeneration of central nervous system
GPathogenic/Likely pathogenic
ASPA, SPATA22
(M1I)
Single nucleotide variant
(missense variant +2 more)
Spongy degeneration of central nervous system
GPathogenic
SPATA22, ASPA
(M1I)
Single nucleotide variant
(missense variant +2 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(C4fs)
Indel
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
(C4R)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Deletion
(inframe_indel +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
(E9*)
Single nucleotide variant
(nonsense +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
(H10fs)
Duplication
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
ASPA, SPATA22
(Q12fs)
Deletion
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
(I11fs)
Deletion
(frameshift variant +1 more)
Spongy degeneration of central nervous system
+1 more
GPathogenic/Likely pathogenic
ASPA, SPATA22
(Q12*)
Single nucleotide variant
(nonsense +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(K13R)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
(V14fs)
Deletion
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(V14I)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(I16T)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GPathogenic/Likely pathogenic
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(T20I)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
SPATA22, ASPA
(G22E)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
+1 more
GUncertain significance
ASPA, SPATA22
(E24G)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(T26I)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(G27fs)
Deletion
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
(G27R)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
+2 more
GPathogenic/Likely pathogenic
ASPA, SPATA22
(G27V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely pathogenic
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
SPATA22, ASPA
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(L30V)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(L30P)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
+1 more
GLikely pathogenic
SPATA22, ASPA
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(W34*)
Single nucleotide variant
(nonsense +1 more)
Spongy degeneration of central nervous system
GPathogenic/Likely pathogenic
ASPA, SPATA22
(W34*)
Single nucleotide variant
(nonsense +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(G38D)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(A39T)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(Q42*)
Single nucleotide variant
(nonsense +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
(T44R)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(G45R)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(P50fs)
Duplication
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GPathogenic/Likely pathogenic
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(T53fs)
Deletion
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
(N54H)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(N54K)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GPathogenic/Likely pathogenic
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(A57T)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
(A57S)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
(A57V)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(R63T)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(N70S)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
ASPA, SPATA22
(R71S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GPathogenic
ASPA, SPATA22
(R71C)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
+1 more
GConflicting classifications of pathogenicity
ASPA, SPATA22
(R71H)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
+2 more
GPathogenic/Likely pathogenic
ASPA, SPATA22
Single nucleotide variant
(synonymous variant +1 more)
Spongy degeneration of central nervous system
GLikely benign
ASPA, SPATA22
(L75P)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GUncertain significance
ASPA, SPATA22
(N77fs)
Duplication
(frameshift variant +1 more)
Spongy degeneration of central nervous system
GPathogenic
SPATA22, ASPA
(N77S)
Single nucleotide variant
(missense variant +1 more)
Spongy degeneration of central nervous system
GConflicting classifications of pathogenicity
ASPA, SPATA22
Single nucleotide variant
(intron variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
Single nucleotide variant
(intron variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
ASPA, SPATA22
Single nucleotide variant
(intron variant +1 more)
Spongy degeneration of central nervous system
GLikely pathogenic
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