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Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
ALKBH4, ARMC10
+292 more
Copy number loss
See cases
GPathogenic
ALKBH4, ANKRD7
+474 more
Copy number loss
See cases
GPathogenic
ATXN7L1, BCAP29
+104 more
Copy number loss
See cases
GUncertain significance
NAMPT
(E475A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAMPT
Single nucleotide variant
(intron variant)
not provided
GBenign
NAMPT
(K447R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAMPT
(K371N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAMPT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NAMPT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NAMPT
(E326D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DUS4L, DUS4L-BCAP29
+92 more
Copy number loss
See cases
GPathogenic
NAMPT
(Q305E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NAMPT
(K289E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAMPT
(Q268K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAMPT
(P236R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAMPT
(D94G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAMPT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NAMPT
(K32R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAMPT
(E8Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATXN7L1, BCAP29
+29 more
Deletion
not provided
GPathogenic
ATXN7L1, BCAP29
+26 more
Copy number loss
not provided
GPathogenic
ATXN7L1, BCAP29
+26 more
Duplication
not provided
GUncertain significance
ATXN7L1, BCAP29
+23 more
Deletion
not provided
GPathogenic
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ALKBH4, ANKRD7
+95 more
Copy number loss
not specified
GPathogenic
ACHE, ACTL6B
+123 more
Copy number loss
not specified
GPathogenic
DUS4L, GPR22
+18 more
Copy number loss
See cases
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
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
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