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Links from Gene

Items: 1 to 100 of 102

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZMIZ2
(P518A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P711S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(Y251H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P259L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P60A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZMIZ2
(A82T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZMIZ2
(A722T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCY1, AEBP1
+31 more
Deletion
not provided
GUncertain significance
ZMIZ2
(A32T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P199S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(V174I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P128L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(G95S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(V108M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P854A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(M847V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P870L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(T717N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(T651M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(G575S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(I507V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(G416R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(S309T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(R334H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(S342N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADCY1, AEBP1
+38 more
Copy number loss
not provided
GPathogenic
ZMIZ2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZMIZ2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZMIZ2
(D111E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(Y284C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P650S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(S857F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(A14V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(R79H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(M187V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(A802S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(G264A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P261L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(S428P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P763H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(A705D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(S731G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(D429H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(M4T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(A588G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(V546I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(T849A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(A156V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(A152V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(R676H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(S238A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(V809M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P226A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(V108L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(M7R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P656L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(I691M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(G726S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(D502G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P308L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(A51T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P102A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(G123R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P128A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P735S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(D886N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(D502N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(T740N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(N344S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZMIZ2
(D853G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(G100D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(R819W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(T766I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZMIZ2
(P755S +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
CCM2, H2AZ2
+9 more
Copy number gain
not specified
GUncertain significance
ABCA13, ADCY1
+53 more
Copy number loss
not specified
GPathogenic
ZMIZ2
(Q392* +2 more)
Single nucleotide variant
(nonsense)
Death in infancy
GUncertain significance
MRPS24, MYL7
+46 more
Copy number loss
Intracranial hemorrhage
GPathogenic
ADCY1, AEBP1
+44 more
Copy number loss
Neurodevelopmental delay
+2 more
GPathogenic
ZMIZ2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
PPIA, PURB
+4 more
Copy number gain
not provided
GUncertain significance
CCM2, H2AZ2
+10 more
Copy number gain
See cases
GLikely benign
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
RP9, SCIN
+196 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
ZMIZ2, ADCY1
+41 more
Copy number loss
See cases
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
AEBP1, AMPH
+288 more
Copy number loss
See cases
GPathogenic
CCM2, DDX56
+58 more
Copy number gain
See cases
GUncertain significance
LOC129998373, LOC129998374
+231 more
Copy number loss
See cases
GPathogenic
LOC121175342, LOC121740678
+380 more
Copy number loss
See cases
GPathogenic
ABCA13, ADCY1
+317 more
Copy number loss
See cases
GPathogenic
ABCA13, ADCY1
+426 more
Copy number loss
See cases
GPathogenic
LOC123956263, LOC123956264
+4737 more
Copy number loss
See cases
GPathogenic
ABCA13, ADCY1
+200 more
Copy number loss
See cases
GPathogenic
LOC129389795, LOC129389796
+636 more
Copy number gain
See cases
GPathogenic
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