C4225179[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1268014	NM_006363.6(SEC23B):c.834+40T>C	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +2 more	GBenign
Select item 1249876	NM_006363.6(SEC23B):c.834+41G>A	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +2 more	GBenign
Select item 95379	NM_006363.6(SEC23B):c.1233+9A>G	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +3 more	GBenign
Select item 95382	NM_006363.6(SEC23B):c.1467C>G (p.His489Gln)	SEC23B (H489Q +1 more)	Single nucleotide variant (missense variant)	Cowden syndrome 7 +3 more	GBenign
Select item 1229749	NM_006363.6(SEC23B):c.1665+48C>T	SEC23B	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type II +2 more	GBenign
Select item 95385	NM_006363.6(SEC23B):c.1744-20T>A	SEC23B	Single nucleotide variant (intron variant)	Cowden syndrome 7 +3 more	GBenign

ClinVar