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Links from MedGen

Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZFP57
(Q150* +1 more)
Single nucleotide variant
(nonsense)
ZFP57-related disorder
+1 more
GLikely pathogenic
ZFP57
(R179C +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 1
GUncertain significance
ZFP57
Single nucleotide variant
(intron variant)
Diabetes mellitus, transient neonatal, 1
GLikely benign
ZFP57
(K166fs +1 more)
Duplication
(frameshift variant)
Diabetes mellitus, transient neonatal, 1
GLikely pathogenic
ZFP57
(T45fs)
Deletion
(frameshift variant +1 more)
Diabetes mellitus, transient neonatal, 1
GPathogenic
ZFP57
Single nucleotide variant
(intron variant)
Diabetes mellitus, transient neonatal, 1
+1 more
GBenign
ZFP57
Single nucleotide variant
(synonymous variant)
Diabetes mellitus, transient neonatal, 1
GUncertain significance
ZFP57
(Y106H +1 more)
Single nucleotide variant
(missense variant)
ZFP57-related disorder
+4 more
GConflicting classifications of pathogenicity
ZFP57
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ZFP57
(R276C +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 1
+1 more
GUncertain significance
ZFP57
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
ZFP57
(R313G +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 1
+2 more
GBenign
ZFP57
(A273P +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ZFP57
(D242Y +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 1
GUncertain significance
ZFP57
(R38W)
Single nucleotide variant
(missense variant +1 more)
Diabetes mellitus, transient neonatal, 1
+2 more
GBenign/Likely benign
ZFP57
(L93V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZFP57
Single nucleotide variant
(synonymous variant)
ZFP57-related disorder
+1 more
GConflicting classifications of pathogenicity
ZFP57
(T159S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
ZFP57
(R164Q +1 more)
Single nucleotide variant
(missense variant)
Transitory neonatal diabetes mellitus
+3 more
GBenign/Likely benign
ZFP57
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZFP57
(S185G +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 1
GUncertain significance
ZFP57
(R250H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ZFP57
(R251H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ZFP57
Single nucleotide variant
(synonymous variant)
Diabetes mellitus, transient neonatal, 1
GUncertain significance
ZFP57
(P286L +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 1
GUncertain significance
ZFP57
(T491S +1 more)
Single nucleotide variant
(missense variant)
ZFP57-related disorder
+4 more
GConflicting classifications of pathogenicity
ZFP57
(R187C +1 more)
Single nucleotide variant
(missense variant)
ZFP57-related disorder
+2 more
GBenign
ZFP57
(R125Q +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+4 more
GConflicting classifications of pathogenicity
ZFP57
(D368V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ZFP57
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ZFP57
(N198S +1 more)
Single nucleotide variant
(missense variant)
ZFP57-related disorder
+4 more
GBenign
ZFP57
(R38Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ZFP57
(S373C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZFP57
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
ZFP57
Deletion
(nonsense)
Diabetes mellitus, transient neonatal, 1
GPathogenic
ZFP57
(H277N +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 1
GPathogenic
ZFP57
(R248H +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 1
GPathogenic
ZFP57
(H458D +1 more)
Single nucleotide variant
(missense variant)
Diabetes mellitus, transient neonatal, 1
GPathogenic
ZFP57
(Y390fs +1 more)
Deletion
(frameshift variant)
Diabetes mellitus, transient neonatal, 1
GPathogenic
ZFP57
(E34fs +1 more)
Microsatellite
(frameshift variant)
Diabetes mellitus, transient neonatal, 1
GPathogenic
ZFP57
(C261* +1 more)
Single nucleotide variant
(nonsense)
Diabetes mellitus, transient neonatal, 1
GPathogenic
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