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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGM
(R419fs)
Microsatellite
(frameshift variant)
PIGM-related disorder
+3 more
GUncertain significance
PIGM
(N384D)
Single nucleotide variant
(missense variant)
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
+2 more
GBenign
PIGM
(T321K)
Single nucleotide variant
(missense variant)
PIGM-related disorder
GUncertain significance
PIGM
(H320R)
Single nucleotide variant
(missense variant)
PIGM-related disorder
GUncertain significance
PIGM
Single nucleotide variant
(synonymous variant)
PIGM-related disorder
+1 more
GLikely benign
PIGM
Single nucleotide variant
(synonymous variant)
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
+1 more
GBenign/Likely benign
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