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Links from MedGen

Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMPRSS6
(D466N)
Single nucleotide variant
(missense variant)
Iron-refractory iron deficiency anemia
GUncertain significance
TMPRSS6
(R88C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IL2RB, LOC130067341
+1 more
Copy number loss
Iron-refractory iron deficiency anemia
GPathogenic
TMPRSS6
(M615fs)
Insertion
(frameshift variant)
Iron-refractory iron deficiency anemia
GUncertain significance
TMPRSS6
Single nucleotide variant
(splice donor variant)
Iron-refractory iron deficiency anemia
GUncertain significance
TMPRSS6
(A22V)
Single nucleotide variant
(missense variant)
Iron-refractory iron deficiency anemia
GUncertain significance
TMPRSS6
(A710T +1 more)
Single nucleotide variant
(missense variant)
Iron-refractory iron deficiency anemia
GUncertain significance
TMPRSS6
(S352*)
Single nucleotide variant
(nonsense)
Iron-refractory iron deficiency anemia
GPathogenic
TMPRSS6
Single nucleotide variant
(intron variant)
Iron-refractory iron deficiency anemia
GBenign
TMPRSS6
Microsatellite
(splice acceptor variant)
not provided
GUncertain significance
TMPRSS6
(C516Y)
Single nucleotide variant
(missense variant)
Iron-refractory iron deficiency anemia
GLikely pathogenic
TMPRSS6
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TMPRSS6
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
TMPRSS6
(R153C)
Single nucleotide variant
(missense variant)
Iron-refractory iron deficiency anemia
GUncertain significance
TMPRSS6
(S177L)
Single nucleotide variant
(missense variant)
Iron-refractory iron deficiency anemia
+1 more
GUncertain significance
TMPRSS6
(G282S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMPRSS6
(E151K)
Single nucleotide variant
(missense variant)
Iron-refractory iron deficiency anemia
+1 more
GUncertain significance
TMPRSS6
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
TMPRSS6
(K253E +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
TMPRSS6
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
TMPRSS6
(V736A +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
TMPRSS6
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
TMPRSS6
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
TMPRSS6
(E513K)
Single nucleotide variant
(missense variant)
Iron-refractory iron deficiency anemia
GPathogenic
TMPRSS6
(A109D)
Single nucleotide variant
(missense variant)
Iron-refractory iron deficiency anemia
GPathogenic
TMPRSS6
(V678fs +1 more)
Duplication
(frameshift variant)
Iron-refractory iron deficiency anemia
GPathogenic
TMPRSS6
(R590*)
Single nucleotide variant
(nonsense)
Iron-refractory iron deficiency anemia
+1 more
GPathogenic/Likely pathogenic
TMPRSS6
(Y384*)
Single nucleotide variant
(nonsense)
Iron-refractory iron deficiency anemia
GPathogenic
TMPRSS6
(E461fs +1 more)
Deletion
(frameshift variant)
Iron-refractory iron deficiency anemia
GLikely pathogenic
TMPRSS6
(Y346*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GLikely pathogenic
TMPRSS6
(D512N)
Single nucleotide variant
(missense variant)
Iron-refractory iron deficiency anemia
+1 more
GLikely pathogenic
TMPRSS6
(G433R)
Single nucleotide variant
(missense variant)
Iron-refractory iron deficiency anemia
+1 more
GPathogenic/Likely pathogenic
TMPRSS6
Single nucleotide variant
(splice donor variant)
Iron-refractory iron deficiency anemia
GPathogenic
TMPRSS6
Single nucleotide variant
(splice donor variant)
Iron-refractory iron deficiency anemia
GPathogenic
TMPRSS6
(A605fs +1 more)
Deletion
(frameshift variant)
Iron-refractory iron deficiency anemia
GPathogenic
TMPRSS6
(K636fs +1 more)
Duplication
(frameshift variant)
Iron-refractory iron deficiency anemia
GPathogenic
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