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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLKB1
(W197* +2 more)
Single nucleotide variant
(nonsense)
Inherited prekallikrein deficiency
GPathogenic
KLKB1
Deletion
(splice donor variant)
Inherited prekallikrein deficiency
GPathogenic
KLKB1
(W200fs +2 more)
Deletion
(frameshift variant)
Inherited prekallikrein deficiency
+1 more
GPathogenic/Likely pathogenic
KLKB1
(I192N +2 more)
Single nucleotide variant
(missense variant)
Inherited prekallikrein deficiency
GLikely pathogenic
KLKB1
Single nucleotide variant
(splice donor variant)
Inherited prekallikrein deficiency
GUncertain significance
KLKB1
(T320A +2 more)
Single nucleotide variant
(missense variant)
Inherited prekallikrein deficiency
+1 more
GBenign/Likely benign
KLKB1
Single nucleotide variant
(synonymous variant +1 more)
Inherited prekallikrein deficiency
+1 more
GBenign/Likely benign
KLKB1
(T270A +2 more)
Single nucleotide variant
(missense variant)
Inherited prekallikrein deficiency
+1 more
GBenign
KLKB1
(S113fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
KLKB1
(C548Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inherited prekallikrein deficiency
+1 more
GConflicting classifications of pathogenicity
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