"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193433	NM_020549.5(CHAT):c.-10T>G	CHAT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 402536	NM_020549.5(CHAT):c.287-431G>A	CHAT (D7N)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 128724	NM_020549.5(CHAT):c.358G>A (p.Ala120Thr)	CHAT (A120T +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 279754	NM_020549.5(CHAT):c.406G>A (p.Val136Met)	CHAT (V136M +2 more)	Single nucleotide variant (missense variant)	Familial infantile myasthenia +2 more	GPathogenic/Likely pathogenic
Select item 128726	NM_020549.5(CHAT):c.727C>T (p.Leu243Phe)	CHAT (L125F +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 199157	NM_020549.5(CHAT):c.1381G>A (p.Val461Met)	CHAT (V343M +2 more)	Single nucleotide variant (no sequence alteration +1 more)	not provided +2 more	GBenign
Select item 128719	NM_020549.5(CHAT):c.1641T>C (p.His547=)	CHAT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

ClinVar