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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121852963, RNF125
Single nucleotide variant
(synonymous variant)
RNF125-related disorder
+1 more
GBenign/Likely benign
LOC121852963, RNF125
(L41P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
RNF125
Single nucleotide variant
(synonymous variant)
RNF125-related disorder
GLikely benign
RNF125
(P85S)
Single nucleotide variant
(missense variant)
Tenorio syndrome
+1 more
GLikely benign
RNF125
Single nucleotide variant
(synonymous variant)
Tenorio syndrome
+1 more
GBenign/Likely benign
RNF125
(S195fs)
Deletion
(frameshift variant)
RNF125-related disorder
GUncertain significance
RNF125
(L198F)
Single nucleotide variant
(missense variant)
RNF125-related disorder
GUncertain significance
RNF125
Single nucleotide variant
(synonymous variant)
RNF125-related disorder
GLikely benign
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