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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC9A7
(R713Q +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 108
GUncertain significance
SLC9A7
(T154A)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 108
GUncertain significance
SLC9A7
(L236I)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 108
GUncertain significance
SLC9A7
(Q555R +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 108
GUncertain significance
SLC9A7
(D723V +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 108
GUncertain significance
SLC9A7
(D564N +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 108
GUncertain significance
SLC9A7
(G666R +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 108
GUncertain significance
SLC9A7
(I330V)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 108
GUncertain significance
IQSEC2
(P352fs +1 more)
Duplication
(frameshift variant)
Intellectual developmental disorder, X-linked 108
GLikely pathogenic
SLC9A7
(F449L +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 108
GUncertain significance
SLC9A7
(S370N +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 108
GUncertain significance
SLC9A7
(M484del +1 more)
Microsatellite
(inframe_deletion)
Intellectual developmental disorder, X-linked 108
GUncertain significance
SLC9A7
Single nucleotide variant
(synonymous variant)
Intellectual developmental disorder, X-linked 108
+2 more
GBenign
SLC9A7
Single nucleotide variant
(synonymous variant)
Intellectual developmental disorder, X-linked 108
GBenign
SLC9A7
Single nucleotide variant
(synonymous variant)
Intellectual developmental disorder, X-linked 108
+2 more
GBenign
SLC9A7
(R506H +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 108
GUncertain significance
SLC9A7
(D316V)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 108
+1 more
GUncertain significance
SLC9A7
(L514F +1 more)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder, X-linked 108
+1 more
GLikely pathogenic
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