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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMO
Single nucleotide variant
(synonymous variant)
Curry-Jones syndrome
GUncertain significance
SMO
Single nucleotide variant
(synonymous variant)
Curry-Jones syndrome
GUncertain significance
SMO
(P368A)
Single nucleotide variant
(missense variant)
Curry-Jones syndrome
GUncertain significance
SMO
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
SMO
(L412F)
Single nucleotide variant
(missense variant)
Curry-Jones syndrome
GPathogenic
SMO
(R726Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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