"ACSL6-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054397	NM_001009185.3(ACSL6):c.1951A>G (p.Thr651Ala)	ACSL6 (T551A +9 more)	Single nucleotide variant (missense variant +1 more)	ACSL6-related disorder	GLikely benign
Select item 3039632	NM_001009185.3(ACSL6):c.1698C>T (p.Ile566=)	ACSL6	Single nucleotide variant (synonymous variant +1 more)	ACSL6-related disorder	GBenign
Select item 1049234	NM_001009185.3(ACSL6):c.1652C>T (p.Thr551Met)	ACSL6 (T451M +4 more)	Single nucleotide variant (missense variant)	ACSL6-related disorder	GLikely benign
Select item 3050281	NM_001009185.3(ACSL6):c.1234C>T (p.Arg412Cys)	ACSL6 (R312C +8 more)	Single nucleotide variant (missense variant +1 more)	ACSL6-related disorder	GLikely benign
Select item 3059647	NM_001009185.3(ACSL6):c.865-8C>G	ACSL6	Single nucleotide variant (intron variant)	ACSL6-related disorder	GBenign
Select item 3035062	NM_001009185.3(ACSL6):c.456C>T (p.Ala152=)	ACSL6	Single nucleotide variant (synonymous variant +1 more)	ACSL6-related disorder	GLikely benign
Select item 3038461	NM_001009185.3(ACSL6):c.451G>A (p.Val151Met)	ACSL6 (V116M +6 more)	Single nucleotide variant (missense variant +1 more)	ACSL6-related disorder	GLikely benign
Select item 3052080	NM_001009185.3(ACSL6):c.51G>A (p.Glu17=)	ACSL6	Single nucleotide variant (synonymous variant +2 more)	ACSL6-related disorder	GLikely benign
Select item 3040468	NM_001009185.3(ACSL6):c.9C>T (p.Thr3=)	ACSL6	Single nucleotide variant (synonymous variant +3 more)	ACSL6-related disorder	GLikely benign