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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEPRO
Single nucleotide variant
(intron variant)
Anauxetic dysplasia 3
GBenign
NEPRO
(F154I +6 more)
Single nucleotide variant
(missense variant +1 more)
Anauxetic dysplasia 3
GBenign
NEPRO
(L145F +4 more)
Single nucleotide variant
(missense variant +1 more)
Anauxetic dysplasia 3
GPathogenic
NEPRO
(R94C)
Single nucleotide variant
(missense variant +2 more)
Anauxetic dysplasia 3
GUncertain significance
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