"Genome-Nilou Lab"[submitter] AND "CHAT"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802572	NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu)	CHAT, SLC18A3 (A520E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 261325	NM_020549.5(CHAT):c.-44G>C	CHAT	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign
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 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 261337	NM_020549.5(CHAT):c.580-35G>A	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia +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 678354	NM_020549.5(CHAT):c.1635-58A>C	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia +1 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
Select item 678355	NM_020549.5(CHAT):c.1839+71C>T	CHAT	Single nucleotide variant (intron variant)	Familial infantile myasthenia +1 more	GBenign

ClinVar