"PreventionGenetics, part of Exact Sciences"[submitter] AND "SPATA22"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1148567	NM_000049.4(ASPA):c.315T>C (p.Ser105=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system +1 more	GLikely benign
Select item 1082180	NM_000049.4(ASPA):c.654C>T (p.Cys218=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system +2 more	GLikely benign
Select item 197621	NM_000049.4(ASPA):c.693C>T (p.Tyr231=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 3054801	NM_000049.4(ASPA):c.744+6A>G	ASPA, SPATA22	Single nucleotide variant (intron variant)	ASPA-related disorder	GLikely benign
Select item 198037	NM_000049.4(ASPA):c.831C>T (p.Thr277=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	Spongy degeneration of central nervous system +2 more	GBenign/Likely benign
Select item 766101	NM_000049.4(ASPA):c.852T>C (p.Asn284=)	ASPA, SPATA22	Single nucleotide variant (synonymous variant +1 more)	ASPA-related disorder +1 more	GLikely benign

ClinVar