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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC24A4
Single nucleotide variant
(intron variant)
Amelogenesis imperfecta hypomaturation type 2A5
GUncertain significance
SLC24A4
(Q334* +2 more)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta hypomaturation type 2A5
GPathogenic
SLC24A4
(A146V +1 more)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A5
GPathogenic
SLC24A4
(S499C +2 more)
Single nucleotide variant
(missense variant)
Amelogenesis imperfecta hypomaturation type 2A5
GPathogenic
SLC24A4
(R339* +2 more)
Single nucleotide variant
(nonsense)
Amelogenesis imperfecta hypomaturation type 2A5
GPathogenic
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