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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC10A7
(L90R)
Single nucleotide variant
(missense variant +2 more)
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
GUncertain significance
SLC10A7
(I97M)
Single nucleotide variant
(missense variant +2 more)
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
GUncertain significance
SLC10A7
Single nucleotide variant
(intron variant)
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
GBenign
SLC10A7
(G130R +1 more)
Single nucleotide variant
(missense variant +2 more)
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
GPathogenic
SLC10A7
(L74P)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
SLC10A7
(Q172* +1 more)
Single nucleotide variant
(nonsense +1 more)
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
GPathogenic
SLC10A7
(G112D)
Single nucleotide variant
(missense variant +2 more)
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
GPathogenic
SLC10A7
Single nucleotide variant
(intron variant)
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
GPathogenic
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