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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
ARTN, ATP6V0B
+279 more
Copy number loss
See cases
GPathogenic
ARTN, ATP6V0B
+253 more
Copy number loss
See cases
GPathogenic
C1orf210, C1orf50
+91 more
Copy number loss
Epilepsy syndrome
GPathogenic
HYI, SZT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
HYI, SZT2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
HYI, SZT2
(G271S +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
HYI, SZT2
(D268E +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
HYI, SZT2
(R289H +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
HYI, SZT2
(C273S +1 more)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GBenign
HYI, SZT2
(V236M +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
HYI, SZT2
(I201V +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
HYI, SZT2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
HYI, SZT2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
HYI, SZT2
Deletion
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 18
GUncertain significance
HYI, SZT2
(A137P +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
HYI, SZT2
(A161G +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
HYI, SZT2
(M150T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
HYI, SZT2
(R118Q +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
HYI, SZT2
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
HYI, SZT2
Single nucleotide variant
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 18
GUncertain significance
HYI, SZT2
(G101D)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
HYI, SZT2
(E88G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
HYI, SZT2
(R87G)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
HYI, SZT2
(A84T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
HYI, SZT2
(G56E)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GBenign
HYI, LOC129930381
+1 more
(P40A)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
HYI, LOC129930381
+1 more
(E33Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
HYI, LOC129930381
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
HYI, LOC129930381
+1 more
(G31D)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
HYI, LOC129930381
+1 more
(A8V)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
A3GALT2, ADPRS
+202 more
Copy number gain
not specified
GPathogenic
ARTN, ATP6V0B
+24 more
Copy number loss
not provided
GPathogenic
CDC20, ELOVL1
+8 more
Copy number gain
not provided
GUncertain significance
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
KCNQ4, KDM4A
+179 more
Duplication
Charcot-Marie-Tooth disease dominant intermediate C
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ARTN, ATP6V0B
+36 more
Copy number loss
See cases
GPathogenic
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