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Items: 1 to 100 of 205

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2M, A2M-AS1
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC130007649, LOC130007650
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1257 more
Copy number gain
See cases
GPathogenic
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
LOC130007425, LOC130007426
+1257 more
Copy number gain
See cases
GPathogenic
WBP11, WNK1
+1242 more
Copy number gain
See cases
GPathogenic
ALG10, AMN1
+242 more
Copy number loss
See cases
GPathogenic
DDX11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DDX11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DDX11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX11
(R32W +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
DDX11
(T46S +1 more)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
DDX11
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
DDX11
(R63H +1 more)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
DDX11
(R75* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
DDX11
(E78G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
(H59R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DDX11
(E73K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DDX11
(P111L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX11
(A106V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX11
(R114Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
DDX11
(R117C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
(R117H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX11
(R159C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
Deletion
(splice acceptor variant)
Inborn genetic diseases
+1 more
GUncertain significance
DDX11
(Q162* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
DDX11
(R138G +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DDX11
(R143H +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
DDX11
(P156L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
DDX11
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
DDX11
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
DDX11
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DDX11
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
DDX11
Microsatellite
(splice acceptor variant)
not provided
GLikely benign
DDX11
Microsatellite
(splice acceptor variant)
not provided
GLikely benign
DDX11
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DDX11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX11
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
DDX11
(R208G +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
DDX11
(R58W +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
(R208Q +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
DDX11
(R230Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
DDX11
(R263Q +1 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
GPathogenic
DDX11
Single nucleotide variant
(splice donor variant)
Warsaw breakage syndrome
GLikely pathogenic
DDX11
(R258H +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
DDX11
Single nucleotide variant
(synonymous variant)
Warsaw breakage syndrome
GBenign
DDX11
(V257M +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
DDX11
(H117Y +4 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
GUncertain significance
DDX11
Single nucleotide variant
(intron variant)
Warsaw breakage syndrome
GBenign
DDX11
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
DDX11
(Q283H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DDX11
(Y142C +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
DDX11
(M1I +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
(A321D +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
DDX11
(R26W +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
(G328R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
DDX11
(Y343C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DDX11
(R378P +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
DDX11
Deletion
(inframe_deletion)
not provided
GUncertain significance
DDX11
(E107K +5 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
GUncertain significance
DDX11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
DDX11
(D400N +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DDX11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DDX11
(G125S +5 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
GUncertain significance
DDX11
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
DDX11
(V104M +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
DDX11
(G108R +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
DDX11
Microsatellite
(intron variant)
not provided
GLikely benign
DDX11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX11
(F129L +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
(V130M +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
(A427S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DDX11
(L168P +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX11
(I283V +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
(S443fs +1 more)
Duplication
(frameshift variant)
Warsaw breakage syndrome
+1 more
GPathogenic
DDX11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
DDX11
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
DDX11
(T155N +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DDX11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DDX11
(D193N +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
DDX11
(D304G +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
(F196Y +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
(N463I +1 more)
Single nucleotide variant
(missense variant)
Warsaw breakage syndrome
GUncertain significance
DDX11
(N315S +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
Single nucleotide variant
(splice donor variant)
Warsaw breakage syndrome
GPathogenic
DDX11
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX11
(L508R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DDX11
(T486S +5 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DDX11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DDX11
(K239R +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
DDX11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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