C3810403[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559598	NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs)	GUCY1A1 (E112fs)	Microsatellite (frameshift variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 127095	NM_001130682.3(GUCY1A1):c.1045C>T (p.Arg349Ter)	GUCY1A1 (R349* +2 more)	Single nucleotide variant (nonsense)	Moyamoya disease with early-onset achalasia	GPathogenic
Select item 127094	NM_001130682.3(GUCY1A1):c.1086+1G>A	GUCY1A1	Single nucleotide variant (splice donor variant)	Moyamoya disease with early-onset achalasia	GPathogenic
Select item 127096	NM_001130682.3(GUCY1A1):c.1170del (p.Glu391fs)	GUCY1A1 (E156fs +2 more)	Deletion (frameshift variant)	Moyamoya disease with early-onset achalasia	GPathogenic
Select item 559596	NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter)	GUCY1A1 (R420* +2 more)	Single nucleotide variant (nonsense)	Moyamoya disease 1 +1 more	GPathogenic
Select item 559597	NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr)	GUCY1A1 (C517Y +2 more)	Single nucleotide variant (missense variant)	Moyamoya disease 1 +1 more	GPathogenic
Select item 559599	NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter)	GUCY1A1 (G652* +1 more)	Single nucleotide variant (nonsense)	Moyamoya disease with early-onset achalasia	GPathogenic

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