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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALAS2
(E532fs +2 more)
Microsatellite
(frameshift variant)
Erythema
+1 more
GPathogenic/Likely pathogenic
ALAS2
(S568G +2 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia 1
GPathogenic
ALAS2
(M530fs +2 more)
Deletion
(frameshift variant)
X-linked erythropoietic protoporphyria
GPathogenic
ALAS2
(S538fs +2 more)
Deletion
(frameshift variant)
X-linked erythropoietic protoporphyria
GPathogenic
ALAS2
(Q548* +2 more)
Single nucleotide variant
(nonsense)
X-linked erythropoietic protoporphyria
GPathogenic
ALAS2
(H524D +2 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia 1
GPathogenic
ALAS2
(I439N +2 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia 1
GPathogenic
ALAS2
(R452C +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ALAS2
(R411C +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ALAS2
(C395Y +2 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia 1
GPathogenic
ALAS2
(T388S +2 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia 1
GPathogenic
ALAS2
(K299Q +2 more)
Single nucleotide variant
(missense variant)
Sideroblastic anemia 1, late-onset
GPathogenic
ALAS2
(G291S +2 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia 1
GPathogenic
ALAS2
(Y199H +2 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia 1
GPathogenic
ALAS2
(D190V +2 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia 1
GPathogenic
ALAS2
(A172T +2 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia 1
GLikely pathogenic
ALAS2
(F165L +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ALAS2
(D159N +2 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia 1
GPathogenic
ALAS2
(D159Y +2 more)
Single nucleotide variant
(missense variant)
X-linked sideroblastic anemia 1
GPathogenic
ALAS2, PAGE2B
Single nucleotide variant
not provided
GBenign/Likely benign
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