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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACVRL1
(R374W)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
+3 more
GPathogenic/Likely pathogenic
ACVRL1
(A400P)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GLikely pathogenic
ACVRL1
(R411Q)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 2
GPathogenic
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