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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998788, LOC129998789
+227 more
Copy number loss
See cases
GPathogenic
ABCB1, ABCB4
+78 more
Copy number loss
See cases
GLikely pathogenic
ADAM22, LOC121740690
+6 more
Copy number gain
See cases
GUncertain significance
SRI
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
SRI
(C179R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRI
Single nucleotide variant
(intron variant)
not provided
GBenign
SRI
(D158H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRI
(R147Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRI
(V126M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRI
(M117V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRI
(R101K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRI
(I95V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRI
(M86L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRI
Single nucleotide variant
(intron variant)
not provided
GBenign
SRI
Single nucleotide variant
(intron variant)
not provided
GBenign
SRI
Duplication
(intron variant)
not provided
GBenign
SRI
(M66V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRI
(R76W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SRI
Single nucleotide variant
(splice acceptor variant)
Inborn genetic diseases
GPathogenic
SRI
Single nucleotide variant
(intron variant)
not provided
GBenign
SRI, SRI-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
SRI, SRI-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC129998765, SRI
+1 more
(G12R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129998765, SRI
+1 more
Single nucleotide variant
(intron variant)
not provided
GBenign
SRI, SRI-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
SRI, SRI-AS1
Deletion
(intron variant)
not provided
GBenign
SRI, SRI-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC121740690, SRI
+1 more
Single nucleotide variant
not provided
GBenign
ADAM22, SRI
+1 more
Copy number gain
not provided
GUncertain significance
ADAM22, DBF4
+3 more
Copy number gain
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ADAM22, SRI
+1 more
Copy number gain
not specified
GUncertain significance
ADAM22, DBF4
+5 more
Copy number loss
not specified
GUncertain significance
ABCB1, ABCB4
+50 more
Copy number gain
not specified
GPathogenic
ATP5MF-PTCD1, AZGP1
+127 more
Copy number gain
Isolated Pierre-Robin syndrome
+1 more
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
CACNA2D1, ERVW-1
+91 more
Deletion
not provided
GUncertain significance
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
STEAP4, TEX47
+11 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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