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Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
LOC129391074, LOC130063625
+351 more
Copy number gain
See cases
GPathogenic
ADGRE2, ADGRE3
+318 more
Copy number loss
See cases
GPathogenic
ADGRE2, ADGRE3
+180 more
Copy number loss
See cases
GPathogenic
ABHD8, ADGRE2
+695 more
Copy number gain
See cases
GPathogenic
ADGRE2, ADGRE3
+237 more
Copy number loss
See cases
GPathogenic
LOC130063788, LOC130063789
+77 more
Copy number loss
See cases
GUncertain significance
ADGRE2, ADGRE3
+41 more
Copy number gain
See cases
GUncertain significance
ZNF333
(E2K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(V11M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(A23T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(R24Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(S53T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(R66P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(Q79H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(G103R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(P104R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(P5S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(R128W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZNF333
(R128Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(P134L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(P135T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(T141M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZNF333
(R53C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(R162H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(D169G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZNF333
(P173T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(A51T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZNF333
(T58N +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(P214S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(E70D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(D230H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(Y127C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF333
(L146F +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF333
(C164G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNF333
(E192Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(Y164C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(Y81C +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZNF333
(I213F +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF333
(H121Y +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF333
(R129C +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF333
(S194R +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF333
(C318Y +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF333
(R211I +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF333
(C309G +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF333
(L319F +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF333
(T392A +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF333
(V292M +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF333
(G309S +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF333
(R473K +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF333
(R597Q +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF333
(H377Y +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ZNF333
(G661E +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CYP4F8, DCAF15
+109 more
Copy number gain
not specified
GUncertain significance
ADGRE2, ADGRE3
+55 more
Copy number loss
not specified
GPathogenic
BST2, NWD1
+158 more
Copy number gain
not provided
GPathogenic
ADGRE2, ADGRE3
+30 more
Copy number loss
not provided
GPathogenic
PGLYRP1, PGLYRP2
+1364 more
Copy number gain
See cases
GPathogenic
TMC4, TMED1
+1364 more
Copy number gain
See cases
GPathogenic
ADGRL1, ANGPTL6
+153 more
Copy number gain
See cases
GPathogenic
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