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Links from MedGen

Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNF125
Single nucleotide variant
(intron variant)
Tenorio syndrome
GLikely benign
LOC121852963, RNF125
Single nucleotide variant
(synonymous variant)
Tenorio syndrome
GLikely benign
LOC121852963, RNF125
Single nucleotide variant
(synonymous variant)
Tenorio syndrome
GLikely benign
RNF125
Deletion
(intron variant)
Tenorio syndrome
GUncertain significance
RNF125
(P128T)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
RNF125
Single nucleotide variant
(synonymous variant)
Tenorio syndrome
GLikely benign
RNF125
Single nucleotide variant
(intron variant)
Tenorio syndrome
GUncertain significance
RNF125
Single nucleotide variant
(splice donor variant)
Tenorio syndrome
GUncertain significance
RNF125
Duplication
Tenorio syndrome
GUncertain significance
RNF125
Duplication
Tenorio syndrome
GUncertain significance
RNF125
(R174L)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
RNF125
(H228R)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
RNF125
(R76Q)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
RNF125
(D178N)
Single nucleotide variant
(missense variant)
Tenorio syndrome
+1 more
GConflicting classifications of pathogenicity
RNF125
Deletion
(nonsense)
Tenorio syndrome
GUncertain significance
LOC121852963, RNF125
(R24C)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
LOC121852963, RNF125
(V43M)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
RNF125
(E224Q)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
LOC121852963, RNF125
(D8E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
RNF125
(C141fs)
Deletion
(frameshift variant)
Tenorio syndrome
GUncertain significance
RNF125
(A137V)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
LOC121852963, RNF125
(V4L)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
LOC121852963, RNF125
(P14S)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
RNF125
Single nucleotide variant
(intron variant)
Tenorio syndrome
GLikely benign
RNF125
(R174H)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
RNF125
(S59P)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
RNF125
Deletion
Tenorio syndrome
GUncertain significance
RNF125
Single nucleotide variant
(intron variant)
Tenorio syndrome
GBenign
RNF125
(N227Y)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
LOC121852963, RNF125
Single nucleotide variant
(synonymous variant)
Tenorio syndrome
GBenign
RNF125
(R165Q)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GBenign
RNF125
Duplication
Tenorio syndrome
GUncertain significance
RNF125
(I123T)
Single nucleotide variant
(missense variant)
Tenorio syndrome
+1 more
GUncertain significance
RNF125
(S152G)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
RNF125
(I158V)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
LOC121852963, RNF125
Single nucleotide variant
(synonymous variant)
Tenorio syndrome
GBenign
RNF125
Single nucleotide variant
(synonymous variant)
Tenorio syndrome
+1 more
GBenign/Likely benign
RNF125
Single nucleotide variant
(synonymous variant)
Tenorio syndrome
GBenign
RNF125
(P85S)
Single nucleotide variant
(missense variant)
Tenorio syndrome
+1 more
GLikely benign
RNF125
Single nucleotide variant
(synonymous variant)
Tenorio syndrome
GBenign
LOC121852963, RNF125
Single nucleotide variant
(synonymous variant)
RNF125-related disorder
+1 more
GBenign/Likely benign
RNF125
(R165W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
RNF125
(Y149D)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GBenign
LOC121852963, RNF125
(G10del)
Deletion
(inframe_deletion)
Tenorio syndrome
GBenign
RNF125
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
RNF125
(G127R)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
RNF125
Duplication
Tenorio syndrome
GUncertain significance
LOC121852963, RNF125
(D27E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC121852963, RNF125
(S16C)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
RNF125
(R190S)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GBenign
RNF125
Single nucleotide variant
(synonymous variant)
Tenorio syndrome
+1 more
GBenign/Likely benign
LOC121852963, RNF125
(P31L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RNF125
(R174C)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GPathogenic
RNF125
(S163L)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GUncertain significance
RNF125
(M112I)
Single nucleotide variant
(missense variant)
Tenorio syndrome
GPathogenic
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