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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANKRD37, UFSP2
(G445R)
Single nucleotide variant
(missense variant +1 more)
Hip dysplasia, Beukes type
GUncertain significance
CFAP96, UFSP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Hip dysplasia, Beukes type
+1 more
GBenign
CFAP96, UFSP2
Single nucleotide variant
(intron variant)
Hip dysplasia, Beukes type
+1 more
GBenign
CFAP96, UFSP2
(V115E)
Single nucleotide variant
(missense variant +1 more)
Olivopontocerebellar hypoplasia
+9 more
GConflicting classifications of pathogenicity
UFSP2
(C311S)
Single nucleotide variant
(missense variant +1 more)
Spondyloepimetaphyseal dysplasia, di rocco type
+2 more
GBenign/Likely benign
UFSP2
(D426A)
Single nucleotide variant
(missense variant +1 more)
Hip dysplasia, Beukes type
+1 more
GPathogenic
UFSP2
(Y290H)
Single nucleotide variant
(missense variant +1 more)
Hip dysplasia, Beukes type
GPathogenic
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