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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPM1E, TRIM37
(P685S)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TRIM37
(E652K +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRIM37
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TRIM37
(P583H +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
TRIM37
(Y370D +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TRIM37
(L208M +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRIM37
(A133V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GBenign/Likely benign
GDPD1, SMG8
+4 more
Copy number gain
not provided
GUncertain significance
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