"PreventionGenetics, part of Exact Sciences"[submitter] AND "ACAA1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033932	NM_001607.4(ACAA1):c.1104C>T (p.Pro368=)	ACAA1	Single nucleotide variant (synonymous variant +1 more)	ACAA1-related disorder	GLikely benign
Select item 3038639	NM_001607.4(ACAA1):c.627-9T>C	ACAA1	Single nucleotide variant (intron variant)	ACAA1-related disorder	GLikely benign
Select item 1277354	NM_001607.4(ACAA1):c.516G>C (p.Glu172Asp)	ACAA1 (E172D)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 3052426	NM_001607.4(ACAA1):c.462C>T (p.Ser154=)	ACAA1	Single nucleotide variant (synonymous variant +2 more)	ACAA1-related disorder	GBenign
Select item 3057974	NM_001607.4(ACAA1):c.255C>T (p.Asp85=)	ACAA1	Single nucleotide variant (synonymous variant +1 more)	ACAA1-related disorder	GLikely benign
Select item 3043793	NM_001607.4(ACAA1):c.225C>G (p.Asp75Glu)	ACAA1 (D75E)	Single nucleotide variant (missense variant +1 more)	ACAA1-related disorder	GLikely benign
Select item 3042154	NM_001607.4(ACAA1):c.6G>A (p.Gln2=)	ACAA1	Single nucleotide variant (synonymous variant +1 more)	ACAA1-related disorder	GLikely benign

ClinVar