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Links from MedGen

Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TF
(C38Y)
Single nucleotide variant
(missense variant +2 more)
Atransferrinemia
GUncertain significance
TF
(P355S +2 more)
Single nucleotide variant
(missense variant)
Atransferrinemia
GLikely pathogenic
TF
Microsatellite
(intron variant)
Atransferrinemia
GUncertain significance
TF
(A412T +2 more)
Single nucleotide variant
(missense variant)
Atransferrinemia
GUncertain significance
TF
(V407A +2 more)
Single nucleotide variant
(missense variant)
Atransferrinemia
GUncertain significance
TF
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TF
(Y104C +1 more)
Single nucleotide variant
(missense variant +1 more)
Atransferrinemia
GUncertain significance
TF
(N94S +1 more)
Single nucleotide variant
(missense variant +1 more)
Atransferrinemia
GUncertain significance
TF
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TF
(I400V +2 more)
Single nucleotide variant
(missense variant)
Atransferrinemia
GUncertain significance
TF
Single nucleotide variant
(synonymous variant)
Atransferrinemia
GUncertain significance
TF
(A32V +1 more)
Single nucleotide variant
(missense variant +1 more)
Atransferrinemia
+1 more
GLikely benign
TF
(A72V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TF
(S11R +1 more)
Single nucleotide variant
(missense variant +1 more)
Atransferrinemia
GUncertain significance
TF
(R216W +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TF
Single nucleotide variant
(5 prime UTR variant +1 more)
Atransferrinemia
GUncertain significance
TF
Single nucleotide variant
(3 prime UTR variant)
Atransferrinemia
GUncertain significance
TF
(Q137E +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TF
(S100L +2 more)
Single nucleotide variant
(missense variant)
Atransferrinemia
GUncertain significance
TF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TF
Single nucleotide variant
(synonymous variant)
Atransferrinemia
+1 more
GConflicting classifications of pathogenicity
TF
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TF
Single nucleotide variant
(synonymous variant)
TF-related disorder
+2 more
GConflicting classifications of pathogenicity
TF
Deletion
(intron variant)
not specified
GBenign
TF
(C58* +1 more)
Single nucleotide variant
(nonsense +1 more)
Atransferrinemia
GUncertain significance
TF
Single nucleotide variant
(3 prime UTR variant)
Atransferrinemia
GUncertain significance
TF
(P602Q +2 more)
Single nucleotide variant
(missense variant)
Atransferrinemia
GUncertain significance
TF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TF
Single nucleotide variant
(intron variant)
Atransferrinemia
+1 more
GBenign/Likely benign
TF
Single nucleotide variant
(intron variant)
Atransferrinemia
GUncertain significance
TF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TF
Single nucleotide variant
(synonymous variant)
Atransferrinemia
+1 more
GBenign/Likely benign
TF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
TF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TF
(D296G +2 more)
Single nucleotide variant
(missense variant)
Atransferrinemia
+1 more
GBenign/Likely benign
TF
Single nucleotide variant
(synonymous variant)
Atransferrinemia
+1 more
GBenign
TF
Single nucleotide variant
(synonymous variant)
TF-related disorder
+2 more
GBenign
TF
(I229T +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TF
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TF
Single nucleotide variant
(synonymous variant)
Atransferrinemia
+1 more
GBenign
TF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TF
Single nucleotide variant
(synonymous variant)
TF-related disorder
+2 more
GBenign/Likely benign
TF
(S174L +2 more)
Single nucleotide variant
(missense variant)
TF-related disorder
+2 more
GLikely benign
TF
Single nucleotide variant
(synonymous variant)
TF-related disorder
+2 more
GBenign/Likely benign
TF
Single nucleotide variant
(synonymous variant)
TF-related disorder
+2 more
GBenign
TF
(T112A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
TF
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
TF
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TF
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TF
(D52N +1 more)
Single nucleotide variant
(missense variant +1 more)
Atransferrinemia
GUncertain significance
TF
(V48I +1 more)
Single nucleotide variant
(missense variant +1 more)
Atransferrinemia
GUncertain significance
TF
(S40N)
Single nucleotide variant
(missense variant +2 more)
TF-related disorder
+2 more
GConflicting classifications of pathogenicity
TF
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TF
Single nucleotide variant
(5 prime UTR variant +1 more)
Atransferrinemia
GBenign
TF
Single nucleotide variant
(intron variant)
Atransferrinemia
GLikely benign
TF
Single nucleotide variant
(intron variant)
Atransferrinemia
GBenign
TF
Single nucleotide variant
(intron variant)
Atransferrinemia
GUncertain significance
TF
(R609W +2 more)
Single nucleotide variant
(missense variant)
Atransferrinemia
GLikely pathogenic
TF
(E394K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TF
(G277S +2 more)
Single nucleotide variant
(missense variant)
Atransferrinemia
+2 more
GBenign/Likely benign
TF
(D77N +1 more)
Single nucleotide variant
(missense variant +1 more)
Atransferrinemia
GPathogenic
TF
(A477P +2 more)
Single nucleotide variant
(missense variant)
Atransferrinemia
GPathogenic
TF
(Q144fs +2 more)
Indel
(frameshift variant)
Atransferrinemia
GPathogenic
TF
(P589S +2 more)
Single nucleotide variant
(missense variant)
Atransferrinemia
+1 more
GBenign
TF
(G671E +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GLikely benign
TF
(H319R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
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