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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
NR3C1
(M410V +8 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
NR3C1
(V394I +8 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
NR3C1
(A365fs +8 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
NR3C1
(T102I +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NR3C1
(A207P +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NR3C1
(L225V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NR3C1
(F109Y +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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