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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLR2E
(K192M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR2E
(K192E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR2E
(R88C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR2E
(Q169H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR2E
(L135P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR2E
(M17V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
POLR2E
Single nucleotide variant
(splice acceptor variant)
Short stature
GPathogenic
POLR2E
(P77A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
POLR2E
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
POLR2E
(R52Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
POLR2E
(S49N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
POLR2E
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
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