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Links from MedGen

Items: 1 to 100 of 371

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
(H453R +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
LOC130068747, SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
LOC130068746, SLC9A6
(G5A)
Single nucleotide variant
(missense variant +1 more)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GBenign
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
(S95G +1 more)
Single nucleotide variant
(missense variant +1 more)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
LOC130068747, SLC9A6
(R45C +1 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
(M500V +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
(H500fs +4 more)
Duplication
(frameshift variant)
Christianson syndrome
GPathogenic
SLC9A6
(R641W +4 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
(P27S)
Single nucleotide variant
(intron variant +1 more)
Christianson syndrome
GUncertain significance
SLC9A6
(I218M +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
(L537P +4 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
(R169fs +3 more)
Deletion
(frameshift variant)
Christianson syndrome
GPathogenic
SLC9A6
(V447I +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
(G534R +4 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
(P443T +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Deletion
(intron variant)
Christianson syndrome
GBenign
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
(T470A +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
(M146T +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
(S208T +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
LOC130068747, SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
(G576V +4 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
LOC130068746, SLC9A6
Single nucleotide variant
(synonymous variant +1 more)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
LOC130068746, SLC9A6
(G16R)
Single nucleotide variant
(missense variant +1 more)
Christianson syndrome
GUncertain significance
SLC9A6
(G45D)
Single nucleotide variant
(missense variant +1 more)
Christianson syndrome
GUncertain significance
SLC9A6
(W295* +3 more)
Single nucleotide variant
(nonsense)
Christianson syndrome
GPathogenic
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
(V122F +1 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
(F267L +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
(R51T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Christianson syndrome
GUncertain significance
SLC9A6
(F203L +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
LOC130068747, SLC9A6
(I107V +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SLC9A6
(G364R +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GLikely pathogenic
SLC9A6
(A517T +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC9A6
Single nucleotide variant
(splice donor variant)
Christianson syndrome
GUncertain significance
SLC9A6
(M569V +4 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GUncertain significance
SLC9A6
Deletion
Christianson syndrome
GPathogenic
SLC9A6
Duplication
Christianson syndrome
GUncertain significance
SLC9A6
Deletion
Christianson syndrome
GPathogenic
SLC9A6
(I369V +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
(Y493C +4 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(splice acceptor variant)
Christianson syndrome
GLikely pathogenic
LOC130068746, SLC9A6
(G16V)
Single nucleotide variant
(missense variant +1 more)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GBenign
SLC9A6
(S624G +4 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GLikely benign
SLC9A6
(A543G +4 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
(W370* +3 more)
Single nucleotide variant
(nonsense)
Christianson syndrome
GPathogenic
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(synonymous variant +1 more)
Christianson syndrome
GLikely benign
SLC9A6
(G363D +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
(G346R +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
(I324V +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
(Q190R +3 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
(V589I +4 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
(S562Y +4 more)
Single nucleotide variant
(missense variant)
Christianson syndrome
GUncertain significance
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
Deletion
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(synonymous variant +1 more)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(splice donor variant)
Christianson syndrome
GLikely pathogenic
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(intron variant)
Christianson syndrome
GLikely benign
SLC9A6
Single nucleotide variant
(synonymous variant)
Christianson syndrome
GLikely benign
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