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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RSPRY1
(E120*)
Single nucleotide variant
(nonsense)
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
GPathogenic
RSPRY1
(C551Y)
Single nucleotide variant
(missense variant)
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
GUncertain significance
RSPRY1
(A37fs)
Deletion
(frameshift variant)
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
+1 more
GPathogenic/Likely pathogenic
RSPRY1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
RSPRY1
(C474*)
Single nucleotide variant
(nonsense)
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
GPathogenic
RSPRY1
(C474Y)
Single nucleotide variant
(missense variant)
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
GUncertain significance
RSPRY1
(G41C)
Single nucleotide variant
(missense variant)
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
GPathogenic
RSPRY1
(T427fs)
Duplication
(frameshift variant)
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
GPathogenic
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