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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CYP27B1
(L351P)
Single nucleotide variant
(missense variant)
Multiple sclerosis, susceptibility to
GUncertain significance
HLA-DRB1
Indel
(missense variant)
Multiple sclerosis, susceptibility to
GUncertain significance
HLA-DRB1
Single nucleotide variant
(splice acceptor variant)
Multiple sclerosis, susceptibility to
GLikely pathogenic
HLA-DRB1
Deletion
(inframe_indel)
Multiple sclerosis, susceptibility to
GUncertain significance
RNF217
(R165H +1 more)
Single nucleotide variant
(missense variant +1 more)
Multiple sclerosis, susceptibility to
Grisk factor
CYP27B1
(R453C)
Single nucleotide variant
(missense variant)
Multiple sclerosis, susceptibility to
+2 more
GPathogenic/Likely pathogenic
CYP27B1
(R429P)
Single nucleotide variant
(missense variant)
Multiple sclerosis, susceptibility to
+2 more
GPathogenic
DNAAF11
(P464L +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
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