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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAD1L1
(R106W +2 more)
Single nucleotide variant
(missense variant)
Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
GUncertain significance
MAD1L1
(E536* +1 more)
Single nucleotide variant
(nonsense)
Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
GPathogenic
MAD1L1
Single nucleotide variant
(nonsense +1 more)
Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
GPathogenic
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