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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A5
(S477fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
SLC6A5
(S477P +1 more)
Single nucleotide variant
(missense variant)
Exaggerated startle response
GPathogenic
KIF1B
(R981* +1 more)
Single nucleotide variant
(nonsense)
Global developmental delay
+4 more
GConflicting classifications of pathogenicity
CTSD
Duplication
(inframe_insertion)
Severe microlissencephaly
+1 more
GLikely pathogenic
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