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Items: 73

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130064925, LOC130064926
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064903, LOC130064904
+1093 more
Copy number gain
See cases
GPathogenic
LOC130065082, LOC130065083
+806 more
Copy number gain
See cases
GPathogenic
OSCAR, PEG3
+782 more
Copy number gain
See cases
GPathogenic
LOC130065034, LOC130065035
+761 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+647 more
Copy number gain
See cases
GPathogenic
SSC5D, SYT5
+553 more
Copy number gain
See cases
GPathogenic
TMC4, TMEM150B
+537 more
Copy number gain
See cases
GPathogenic
A1BG, A1BG-AS1
+215 more
Copy number gain
See cases
GPathogenic
LOC130065239, LOC130065240
+41 more
Copy number loss
See cases
GLikely benign
ZNF446
(P4L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(G6D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(M13T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(R28C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(R30Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(E36V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(E36D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(V37A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF446
(R46W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(E49G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(P57A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(M68I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(F74C)
Single nucleotide variant
(missense variant)
High myopia
GUncertain significance
ZNF446
(S93G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(G103V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(T116R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(H118R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(S146P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZNF446
(G150V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(S163G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(S163R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(C164Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(K167E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(A185G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(H195R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(R217Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(Y223H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(P240L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(R263K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF446
(G285C)
Single nucleotide variant
(missense variant +1 more)
Short stature
GUncertain significance
ZNF446
(T299A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(P302H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(P324T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(P328L)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ZNF446
(R339H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(G340R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(G340S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(G340A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(W343*)
Single nucleotide variant
(nonsense +1 more)
Short stature
GPathogenic
ZNF446
(R352Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(R352L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(H354R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(T355M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(G364E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(G368R)
Single nucleotide variant
(missense variant +1 more)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
ZNF446
(H384R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(P385A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(R387C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(R393W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(Y395N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(E399K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(S403G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(S408L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(R414C)
Single nucleotide variant
(missense variant +1 more)
Short stature
GUncertain significance
ZNF446
(R421Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(H441Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(R442C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(R442H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF446
(R446W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPS5, ZNF132
+5 more
Copy number gain
not provided
GUncertain significance
SLC27A5, ZBTB45
+2 more
Copy number gain
See cases
GUncertain significance
A1BG, ACP4
+280 more
Copy number gain
See cases
GPathogenic
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