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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FLRT1, MACROD1
(V22I)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
+2 more
GConflicting classifications of pathogenicity
FLRT1, MACROD1
(D136G)
Single nucleotide variant
(missense variant +1 more)
FLRT1-related disorder
+1 more
GLikely benign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
+1 more
GBenign/Likely benign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
FLRT1-related disorder
GLikely benign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
FLRT1-related disorder
GLikely benign
FLRT1, MACROD1
(E374D)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
+1 more
GLikely benign
FLRT1, MACROD1
(R437Q +1 more)
Single nucleotide variant
(missense variant +1 more)
FLRT1-related disorder
+1 more
GUncertain significance
FLRT1, MACROD1
(G571V)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
+1 more
GConflicting classifications of pathogenicity
FLRT1, MACROD1
(R615C)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
+1 more
GLikely benign
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