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Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
SPDYE12, SPDYE13
+330 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+317 more
Copy number loss
See cases
GPathogenic
ABHD11, ABHD11-AS1
+285 more
Copy number gain
See cases
GLikely pathogenic
APTR, CACNA2D1
+249 more
Copy number loss
See cases
GPathogenic
APTR, CACNA2D1
+194 more
Copy number loss
See cases
GPathogenic
APTR, CCDC146
+126 more
Deletion
Distal 7q11.23 microdeletion syndrome
GPathogenic
APTR, CCDC146
+109 more
Copy number loss
See cases
GPathogenic
APTR, CCDC146
+45 more
Copy number gain
See cases
GUncertain significance
LOC129998713, PTPN12
(N27K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
Single nucleotide variant
(intron variant)
PTPN12-related disorder
GBenign
PTPN12
(I47M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
PTPN12
(K61R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Carcinoma of colon
GPathogenic
PTPN12
(D85H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
PTPN12
Single nucleotide variant
(5 prime UTR variant +2 more)
PTPN12-related disorder
GLikely benign
PTPN12
(V97I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
PTPN12
Single nucleotide variant
(5 prime UTR variant +2 more)
PTPN12-related disorder
GLikely benign
PTPN12
(R134Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
Single nucleotide variant
(intron variant)
PTPN12-related disorder
GLikely benign
PTPN12
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PTPN12
(R68H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PTPN12
(H174R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(I179T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(G182E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(V192I +2 more)
Single nucleotide variant
(missense variant)
PTPN12-related disorder
GBenign
PTPN12
Single nucleotide variant
(synonymous variant)
PTPN12-related disorder
GLikely benign
PTPN12
(V243M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(T248S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(D427V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(N457H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(L355P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(S384F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(R525C +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PTPN12
(T535M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(P416L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(P548A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(S426L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(S571G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(T443A +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
PTPN12
(H454Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PTPN12
(D477V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(S509N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(H523Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(G538E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
Single nucleotide variant
(synonymous variant)
PTPN12-related disorder
GBenign
PTPN12
(G532S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(V550I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(E571A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PTPN12
(E576K +2 more)
Single nucleotide variant
(missense variant)
PTPN12-related disorder
GBenign
PTPN12
(S621P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PTPN12
(E648V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
CCDC146, GSAP
+1 more
Copy number gain
not provided
GUncertain significance
PTPN12
Copy number loss
not provided
GUncertain significance
FGL2, PTPN12
+2 more
Copy number gain
not provided
GUncertain significance
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
MAGI2, PHTF2
+3 more
Copy number gain
not provided
GUncertain significance
CD36, GNAI1
+7 more
Deletion
not provided
GUncertain significance
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
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