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Links from Gene

Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASPN, CENPP
+8 more
Copy number gain
not specified
GUncertain significance
ABCA1, ABCA2
+769 more
Copy number gain
not specified
GPathogenic
ASPN, CENPP
Single nucleotide variant
(synonymous variant +1 more)
ASPN-related disorder
GLikely benign
ASPN, CENPP
Single nucleotide variant
(synonymous variant +1 more)
ASPN-related disorder
GLikely benign
ASPN, CENPP
(M30T)
Single nucleotide variant
(missense variant +1 more)
ASPN-related disorder
GLikely benign
ASPN, CENPP
(G192E)
Single nucleotide variant
(missense variant +1 more)
ASPN-related disorder
GBenign
ASPN, CENPP
Single nucleotide variant
(synonymous variant +1 more)
ASPN-related disorder
GLikely benign
ASPN, CENPP
Microsatellite
(inframe insertion +1 more)
CENPP-related disorder
GBenign
CARD19, MIR24-1
+106 more
Deletion
not provided
GPathogenic
ECM2, IARS1
+10 more
Deletion
not provided
GPathogenic
ASPN, CENPP
(N209K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ASPN, CENPP
(P21H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ASPN, CENPP
+8 more
Copy number gain
not provided
GUncertain significance
ASPN, BICD2
+6 more
Copy number loss
not provided
GUncertain significance
ASPN, CENPP
+4 more
Copy number loss
not provided
GUncertain significance
ANKS6, ANP32B
+596 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+417 more
Copy number loss
Distal tetrasomy 15q
GUncertain significance
ASPN, CENPP
+1 more
Copy number loss
not specified
GUncertain significance
ABCA1, ABHD17B
+261 more
Copy number gain
not specified
GLikely pathogenic
OR1L4, PTRH1
+768 more
Copy number gain
not specified
GPathogenic
ECM2, OMD
+9 more
Deletion
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
+1 more
GUncertain significance
MSANTD3, MSANTD3-TMEFF1
+87 more
Copy number loss
Gorlin syndrome
GPathogenic
ASPN, CENPP
+6 more
Copy number gain
not provided
GUncertain significance
ASPN, CENPP
Microsatellite
(no sequence alteration +1 more)
not provided
GBenign
ASPN, CENPP
Microsatellite
(frameshift variant +1 more)
not provided
GBenign
ASPN, CENPP
Microsatellite
(frameshift variant +1 more)
not provided
GBenign
ASPN, CENPP
+4 more
Deletion
not provided
GPathogenic
ASPN, CENPP
(R364C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASPN, CENPP
+2 more
Copy number loss
not provided
GUncertain significance
ASPN, CENPP
+8 more
Copy number gain
See cases
GUncertain significance
ASPN, CENPP
+3 more
Copy number loss
not provided
GUncertain significance
ASPN, BICD2
+6 more
Copy number loss
not provided
GUncertain significance
IFNA16, NTRK2
+326 more
Inversion
Recurrent spontaneous abortion
+1 more
GLikely pathogenic
ASPN, CENPP
+4 more
Copy number loss
not provided
GUncertain significance
ASPN, CENPP
+8 more
Copy number gain
not provided
GUncertain significance
ABCA1, ABCA2
+552 more
Copy number gain
not provided
GPathogenic
ASPN, CENPP
+4 more
Copy number loss
not provided
GUncertain significance
ABCA1, ABCA2
+769 more
Copy number gain
not provided
GPathogenic
AGTPBP1, ASPN
+79 more
Copy number gain
not provided
GPathogenic
ASPN, BICD2
+17 more
Copy number loss
not provided
GUncertain significance
SEC16A, SEC61B
+553 more
Copy number gain
Hypotonia
+2 more
GLikely pathogenic
ABCA1, ABCA2
+769 more
Copy number gain
See cases
GPathogenic
ASPN, CENPP
Microsatellite
(frameshift variant +1 more)
not provided
GUncertain significance
UBQLN1, UCK1
+771 more
Copy number gain
See cases
GPathogenic
ANGPTL2, ANKRD18A
+771 more
Copy number gain
See cases
GPathogenic
OMD, ASPN
+5 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1188 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABHD17B
+1072 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002218, LOC130002219
+994 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
AOPEP, ASPN
+268 more
Copy number loss
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
ASPN, CENPP
Microsatellite
(frameshift variant +1 more)
not specified
+1 more
GBenign
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