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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SIN3A
(L793P)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome
GLikely pathogenic
SIN3A
(R471*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SIN3A
(A1120G)
Single nucleotide variant
(missense variant)
SIN3A-related intellectual disability syndrome
GUncertain significance
SIN3A
(R553*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
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