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Items: 1 to 100 of 179

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATL3, BAD
+107 more
Copy number loss
See cases
GLikely pathogenic
FLRT1, MACROD1
(T11N)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +2 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(T13M)
Single nucleotide variant
(missense variant +2 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
(T13R)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
FLRT1, MACROD1
Deletion
(inframe_deletion +2 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +2 more)
Peripheral neuropathy
GBenign
MACROD1, FLRT1
(V22I)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
FLRT1, MACROD1
(M29K +1 more)
Single nucleotide variant
(missense variant +2 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
FLRT1, MACROD1
(C10W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GBenign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(T24S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
(R59H +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(G63S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
(G71R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(A77T +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
FLRT1, MACROD1
(T84I +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
+1 more
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
+1 more
GBenign
FLRT1, MACROD1
(G97A +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(R127H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
(R130Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
(D136G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
FLRT1, MACROD1
(S146L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
FLRT1, MACROD1
(A148G +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
+1 more
GUncertain significance
FLRT1, MACROD1
(R149C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
+1 more
GBenign
FLRT1, MACROD1
(H157Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(V166I +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(A172T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
(D175N +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
(L181R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MACROD1, FLRT1
(S194L +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
+1 more
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(S223G +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
(R226C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
(R226H +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
FLRT1, MACROD1
Single nucleotide variant
(intron variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(D241V +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
+1 more
GBenign
FLRT1, MACROD1
(R246C +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(S259L +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GBenign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
+1 more
GBenign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(T289M +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(R294L +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
(R298Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
MACROD1, FLRT1
(N305K +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
+1 more
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
FLRT1-related disorder
GLikely benign
FLRT1, MACROD1
(G284S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
(D315N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
+1 more
GLikely benign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
FLRT1-related disorder
GLikely benign
FLRT1, MACROD1
(R326K +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
+1 more
GBenign
FLRT1, MACROD1
(D341H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
(V343L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FLRT1, MACROD1
(A347V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
(A348T +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
(V321M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
(M356L +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
(V335F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
(R364Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
(S373R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
(E374Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
FLRT1, MACROD1
(E374D +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(T381M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
(T353R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(A390T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MACROD1, FLRT1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GBenign
FLRT1, MACROD1
(T395M +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(S401Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
+1 more
GUncertain significance
FLRT1, MACROD1
(T376M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MACROD1, FLRT1
Single nucleotide variant
(synonymous variant +1 more)
Peripheral neuropathy
GLikely benign
FLRT1, MACROD1
(F410Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
(G418E +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
GUncertain significance
FLRT1, MACROD1
(D395N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FLRT1, MACROD1
(I426T +1 more)
Single nucleotide variant
(missense variant +1 more)
Peripheral neuropathy
+1 more
GUncertain significance
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