C4518781[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 402915	NM_004963.4(GUCY2C):c.2158-16dup	GUCY2C	Duplication (intron variant)	not provided +3 more	GBenign
Select item 402916	NM_004963.4(GUCY2C):c.2022C>T (p.Ile674=)	GUCY2C	Single nucleotide variant (synonymous variant)	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency +3 more	GBenign
Select item 1267594	NM_004963.4(GUCY2C):c.1534-30C>G	GUCY2C	Single nucleotide variant (intron variant)	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency +2 more	GBenign
Select item 1170460	NM_004963.4(GUCY2C):c.843T>G (p.Phe281Leu)	GUCY2C, GUCY2C-AS1 (F281L)	Single nucleotide variant (missense variant)	Congenital diarrhea 6 +2 more	GBenign
Select item 402917	NM_004963.4(GUCY2C):c.612-11del	GUCY2C, GUCY2C-AS1	Deletion (intron variant)	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency +3 more	GBenign
Select item 1165268	NM_004963.4(GUCY2C):c.612-16C>A	GUCY2C, GUCY2C-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign

ClinVar