"Invitae"[submitter] AND "CSTF2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 745214	NM_001325.3(CSTF2):c.147C>T (p.Tyr49=)	CSTF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716033	NM_001325.3(CSTF2):c.445-10A>G	CSTF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 781552	NM_001325.3(CSTF2):c.1140C>T (p.Pro380=)	CSTF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2425021	NC_000023.10:g.(?_99551275)_(101097764_?)del	ARL13A, ARMCX1 +25 more	Deletion	not provided	GPathogenic
Select item 2423943	NC_000023.10:g.(?_99551275)_(100099087_?)del	CSTF2, NOX1 +5 more	Deletion	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 2422282	NC_000023.10:g.(?_99551275)_(101097764_?)dup	ARL13A, ARMCX1 +25 more	Duplication	X-linked agammaglobulinemia with growth hormone deficiency +1 more	GUncertain significance
Select item 1375651	NC_000023.10:g.(?_99917153)_(100662891_?)dup	ARL13A, BTK +14 more	Duplication	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance

ClinVar