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Links from MedGen

Items: 1 to 100 of 624

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(splice donor variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
Deletion
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
(S53*)
Indel
(nonsense)
Lysinuric protein intolerance
GPathogenic
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
LOC130055323, SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
LOC130055324, SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(splice acceptor variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(splice donor variant)
Lysinuric protein intolerance
GLikely pathogenic
LOC130055324, SLC7A7
(Y7*)
Single nucleotide variant
(nonsense)
Lysinuric protein intolerance
GPathogenic
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(splice acceptor variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(I461fs)
Deletion
(frameshift variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(R288fs)
Microsatellite
(frameshift variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(K60fs)
Deletion
(frameshift variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(L40fs)
Deletion
(frameshift variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(Y457*)
Single nucleotide variant
(nonsense)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(G338fs)
Deletion
(frameshift variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(Y104fs)
Deletion
(frameshift variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(A116fs)
Deletion
(frameshift variant)
Lysinuric protein intolerance
GPathogenic
SLC7A7
Deletion
(nonsense)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(W310fs)
Deletion
(frameshift variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(S150fs)
Duplication
(frameshift variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(C487*)
Single nucleotide variant
(nonsense)
Lysinuric protein intolerance
GLikely pathogenic
LOC130055323, SLC7A7
(K32*)
Single nucleotide variant
(nonsense)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(F223fs)
Deletion
(frameshift variant)
Lysinuric protein intolerance
GLikely pathogenic
LOC130055323, SLC7A7
(A24fs)
Deletion
(frameshift variant)
Lysinuric protein intolerance
GPathogenic/Likely pathogenic
SLC7A7
Single nucleotide variant
(splice acceptor variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(I351fs)
Deletion
(frameshift variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(Y274fs)
Deletion
(frameshift variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(V192fs)
Deletion
(frameshift variant)
Lysinuric protein intolerance
GPathogenic/Likely pathogenic
SLC7A7
(S452fs)
Deletion
(frameshift variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(V432fs)
Deletion
(frameshift variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(L40fs)
Insertion
(frameshift variant)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(W390*)
Single nucleotide variant
(nonsense)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(W405*)
Single nucleotide variant
(nonsense)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
Deletion
Lysinuric protein intolerance
GPathogenic
SLC7A7
(P154A)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
(A136T)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Duplication
Lysinuric protein intolerance
GUncertain significance
ACIN1, ADCY4
+77 more
Duplication
Lysinuric protein intolerance
+1 more
GUncertain significance
SLC7A7
Deletion
Lysinuric protein intolerance
GPathogenic
SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
LOC130055323, SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
(V200I)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
LOC130055323, SLC7A7
(P28L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC7A7
(R412H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC7A7
(W310R)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
(L472F)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
(N141S)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
LOC130055324, SLC7A7
(A10V)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
(P19T)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
(L444F)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
(Y282H)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
(G342S)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
Single nucleotide variant
(synonymous variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
(G61S)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
(D377G)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
Microsatellite
(intron variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
(I269V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
(I475T)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
(H343Y)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
(I228T)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
(K415E)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
(V43M)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
LOC130055324, SLC7A7
(M1V)
Single nucleotide variant
(missense variant +1 more)
Lysinuric protein intolerance
GLikely pathogenic
SLC7A7
(L403R)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
(R481S)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
(E497K)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
(I441V)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
+1 more
GUncertain significance
SLC7A7
(L285P)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
(S158G)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
(A194T)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
(N278I)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
SLC7A7
Single nucleotide variant
(intron variant)
Lysinuric protein intolerance
GLikely benign
SLC7A7
(V463E)
Single nucleotide variant
(missense variant)
Lysinuric protein intolerance
GUncertain significance
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