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Links from MedGen

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FMR1
Single nucleotide variant
(intron variant)
Fragile X syndrome
GUncertain significance
FMR1
(R518H +4 more)
Single nucleotide variant
(missense variant +1 more)
Fragile X syndrome
GUncertain significance
FMR1
(R421Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
FMR1
(Y402fs +1 more)
Deletion
(frameshift variant +1 more)
Fragile X syndrome
GLikely pathogenic
FMR1
(R138Q)
Single nucleotide variant
(missense variant +1 more)
Fragile X syndrome
GUncertain significance
FMR1
(R565C +2 more)
Single nucleotide variant
(synonymous variant +2 more)
Fragile X syndrome
GUncertain significance
FMR1
(F262L)
Single nucleotide variant
(missense variant +1 more)
Fragile X syndrome
GUncertain significance
FMR1, FRAXA
+1 more
Microsatellite
(5 prime UTR variant +1 more)
not provided
GBenign
FMR1
(D407H +1 more)
Single nucleotide variant
(missense variant +1 more)
Fragile X syndrome
GUncertain significance
FMR1
(W395*)
Single nucleotide variant
(nonsense +2 more)
Fragile X syndrome
GLikely pathogenic
FMR1, FMR1-AS1
Microsatellite
Fragile X syndrome
GBenign
FMR1
Microsatellite
Fragile X syndrome
Gother
FMR1
Microsatellite
Fragile X syndrome
Gother
FMR1
Single nucleotide variant
(3 prime UTR variant +1 more)
FMR1-related disorder
+1 more
GBenign
FMR1
(K119N)
Single nucleotide variant
(missense variant +1 more)
Fragile X syndrome
GLikely benign
FMR1, FMR1-AS1
Microsatellite
Fragile X syndrome
GPathogenic
LOC107032825, FMR1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+5 more
GBenign/Likely benign
FMR1
(K273R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
ADGB, ADGB-DT
+4 more
Deletion
Fragile X syndrome
GPathogenic
FMR1
(A434V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
+2 more
GBenign/Likely benign
FMR1
Deletion
Fragile X syndrome
GPathogenic
FMR1, FRAXA
+2 more
Microsatellite
(5 prime UTR variant +1 more)
Fragile X syndrome
GPathogenic
FMR1
(A145S)
Single nucleotide variant
(missense variant +1 more)
Fragile X-associated tremor/ataxia syndrome
+4 more
GBenign
FMR1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
FMR1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GBenign
FMR1
(S27*)
Single nucleotide variant
(nonsense +1 more)
Fragile X syndrome
GPathogenic
FMR1
Microsatellite
Fragile X syndrome
+2 more
GPathogenic
FMR1
Indel
(splice acceptor variant)
Fragile X syndrome
GPathogenic
FMR1
(T125fs)
Deletion
(frameshift variant +1 more)
Fragile X syndrome
GPathogenic
FMR1
(I304N)
Single nucleotide variant
(missense variant +1 more)
Fragile X syndrome
GPathogenic
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