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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC7A14, SLC7A14-AS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SLC7A14, SLC7A14-AS1
Single nucleotide variant
(synonymous variant)
Retinal dystrophy
+2 more
GBenign
SLC7A14, SLC7A14-AS1
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa 68
+1 more
GLikely benign
SLC7A14, SLC7A14-AS1
(V390L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SLC7A14
(G722R)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 68
+1 more
GBenign/Likely benign
SLC7A14, SLC7A14-AS1
(L416F)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 68
+1 more
GUncertain significance
SLC7A14, SLC7A14-AS1
(A132V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 68
GPathogenic
SLC7A14, SLC7A14-AS1
(C464F)
Single nucleotide variant
(missense variant)
SLC7A14-related condition
+2 more
GBenign/Likely benign
SLC7A14
(F708V)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 68
GPathogenic
SLC7A14, SLC7A14-AS1
(G330R)
Single nucleotide variant
(missense variant)
SLC7A14-related condition
+3 more
GBenign/Likely benign
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