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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HSCB
(W42G)
Single nucleotide variant
(missense variant +1 more)
Anemia, sideroblastic, 5
GUncertain significance
HSCB
(G49C)
Single nucleotide variant
(missense variant +1 more)
Anemia, sideroblastic, 5
GUncertain significance
HSCB
(R99H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
HSCB
Single nucleotide variant
Anemia, sideroblastic, 5
GPathogenic
HSCB
(T87fs)
Duplication
(frameshift variant +2 more)
Anemia, sideroblastic, 5
GPathogenic
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