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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDH1A2
(R251H +2 more)
Single nucleotide variant
(missense variant)
Diaphragmatic hernia 4, with cardiovascular defects
GPathogenic
ALDH1A2
(A287T +2 more)
Single nucleotide variant
(missense variant)
Diaphragmatic hernia 4, with cardiovascular defects
GPathogenic
ALDH1A2
(S365Y +2 more)
Single nucleotide variant
(missense variant)
Diaphragmatic hernia 4, with cardiovascular defects
GPathogenic
ALDH1A2
(Q161K +1 more)
Single nucleotide variant
(missense variant)
Diaphragmatic hernia 4, with cardiovascular defects
GPathogenic
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