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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP3K12
(S334G +1 more)
Single nucleotide variant
(missense variant)
Falls
+1 more
GUncertain significance
SPTLC1
(L39del)
Microsatellite
(inframe_deletion +1 more)
Neuropathy, hereditary sensory and autonomic, type 1A
+7 more
GPathogenic/Likely pathogenic
COL6A2
Single nucleotide variant
(intron variant)
Ullrich congenital muscular dystrophy 1A
+11 more
GConflicting classifications of pathogenicity
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