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Links from MedGen

Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMS
(K161del +1 more)
Deletion
(inframe deletion)
Syndromic X-linked intellectual disability Snyder type
GUncertain significance
SMS
(V172A +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Snyder type
GLikely pathogenic
SMS
(P112Q +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Snyder type
GUncertain significance
SMS
(D87E)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Snyder type
GUncertain significance
SMS
Single nucleotide variant
(splice donor variant)
Syndromic X-linked intellectual disability Snyder type
GUncertain significance
SMS
(M97V)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Snyder type
GUncertain significance
SMS
(S38L)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Snyder type
GUncertain significance
SMS
(R234* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
SMS
Single nucleotide variant
(splice donor variant)
Syndromic X-linked intellectual disability Snyder type
GLikely pathogenic
SMS
(R110Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SMS
(G280R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SMS
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SMS
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SMS
(Y51C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SMS
(E287G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SMS
(I143T +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Snyder type
GLikely pathogenic
SMS
(R110G)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Snyder type
GLikely pathogenic
SMS
(T291K +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SMS
(D137G +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Snyder type
GLikely pathogenic
LOC130068040, SMS
(R5G)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Snyder type
GUncertain significance
SMS
(G150D +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Snyder type
GPathogenic
SMS
(R130C +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Snyder type
GPathogenic
SMS
(G214R +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Snyder type
GUncertain significance
SMS
(M303fs +1 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability Snyder type
GPathogenic
SMS
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
SMS
Single nucleotide variant
(synonymous variant)
SMS-related disorder
+4 more
GBenign/Likely benign
SMS
(Y328C +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Snyder type
GPathogenic
SMS
(Q148R +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Snyder type
GPathogenic
SMS
(G67E)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
SMS
(F58L)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability Snyder type
Gnot provided
SMS
(V132G +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability Snyder type
GPathogenic
SMS
(G56S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GPathogenic
SMS
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability Snyder type
GPathogenic
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