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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGPS, ATF2
+150 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
NFE2L2
(V464I +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NFE2L2
(Q456R +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NFE2L2
(N375K +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NFE2L2
(Q391* +5 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
NFE2L2
(S210F +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NFE2L2
(N104fs +5 more)
Indel
(frameshift variant)
not provided
GUncertain significance
NFE2L2
(P118L +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NFE2L2
(I70T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NFE2L2
(A53G +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
NFE2L2
(L14V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NFE2L2
(W8R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
NFE2L2
(R18Q +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
NFE2L2
(L460S +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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