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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ENG, LOC102723566
(R571C +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Telangiectasia, hereditary hemorrhagic, type 1
GUncertain significance
LOC102723566, ENG
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GPathogenic
ENG, LOC102723566
Single nucleotide variant
(synonymous variant)
Hereditary hemorrhagic telangiectasia
+2 more
GConflicting classifications of pathogenicity
LOC102723566, ENG
(V504M +1 more)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 1
GLikely benign
LOC102723566, ENG
Single nucleotide variant
(synonymous variant)
Telangiectasia, hereditary hemorrhagic, type 1
+4 more
GBenign/Likely benign
ENG
(D112fs +1 more)
Deletion
(frameshift variant)
Hereditary hemorrhagic telangiectasia
+1 more
GPathogenic
ENG
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
ENG
(G191D +1 more)
Single nucleotide variant
(missense variant)
Telangiectasia, hereditary hemorrhagic, type 1
GBenign
ENG
(P131L)
Single nucleotide variant
(missense variant +1 more)
Telangiectasia, hereditary hemorrhagic, type 1
GBenign
ENG
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+3 more
GPathogenic
ENG
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ENG
(T5M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
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