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Links from MedGen

Items: 1 to 100 of 874

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
(V456I +2 more)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
(T60I +1 more)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
(L231V +1 more)
Single nucleotide variant
(missense variant +1 more)
Creatine transporter deficiency
GUncertain significance
SLC6A8
(M472T +2 more)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
(G384R +2 more)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Duplication
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Duplication
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Microsatellite
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
Single nucleotide variant
(synonymous variant +1 more)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
(G365D +2 more)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant +1 more)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
(G88D)
Single nucleotide variant
(missense variant +1 more)
Creatine transporter deficiency
GUncertain significance
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
(L81R)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
(P25L)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GBenign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
(F263L +1 more)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Microsatellite
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Microsatellite
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
(D201G +1 more)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
(R46L)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Deletion
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
(W496* +2 more)
Single nucleotide variant
(nonsense)
Creatine transporter deficiency
GPathogenic
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant +1 more)
Creatine transporter deficiency
GLikely benign
SLC6A8
(P31T)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
(D406N +2 more)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant +1 more)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GBenign
SLC6A8
(H488Q +2 more)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
(M509I +2 more)
Single nucleotide variant
(missense variant)
Creatine transporter deficiency
GUncertain significance
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Duplication
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Duplication
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(synonymous variant)
Creatine transporter deficiency
GLikely benign
SLC6A8
Single nucleotide variant
(intron variant)
Creatine transporter deficiency
GLikely benign
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