"PreventionGenetics, part of Exact Sciences"[submitter] AND "ACP4"[gen - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3059630	NM_033068.3(ACP4):c.43CTG[5] (p.Leu20del)	ACP4 (L20del)	Microsatellite (inframe deletion)	ACP4-related disorder	GBenign
Select item 3052299	NM_033068.3(ACP4):c.138G>A (p.Pro46=)	ACP4	Single nucleotide variant (synonymous variant)	ACP4-related disorder	GLikely benign
Select item 3058974	NM_033068.3(ACP4):c.216G>A (p.Thr72=)	ACP4	Single nucleotide variant (synonymous variant)	ACP4-related disorder	GBenign
Select item 3049553	NM_033068.3(ACP4):c.363C>T (p.Ala121=)	ACP4	Single nucleotide variant (synonymous variant)	ACP4-related disorder	GLikely benign
Select item 3044610	NM_033068.3(ACP4):c.465C>T (p.Pro155=)	ACP4	Single nucleotide variant (synonymous variant)	ACP4-related disorder	GLikely benign
Select item 3053842	NM_033068.3(ACP4):c.549+7A>G	ACP4	Single nucleotide variant (intron variant)	ACP4-related disorder	GLikely benign
Select item 3041362	NM_033068.3(ACP4):c.550-8G>A	ACP4	Single nucleotide variant (intron variant)	ACP4-related disorder	GLikely benign
Select item 716610	NM_033068.3(ACP4):c.550-4C>T	ACP4	Single nucleotide variant (intron variant)	ACP4-related disorder +1 more	GBenign/Likely benign
Select item 3048815	NM_033068.3(ACP4):c.654C>T (p.His218=)	ACP4	Single nucleotide variant (synonymous variant)	ACP4-related disorder	GLikely benign
Select item 3056780	NM_033068.3(ACP4):c.973G>A (p.Ala325Thr)	ACP4 (A325T)	Single nucleotide variant (missense variant)	ACP4-related disorder	GBenign
Select item 3059901	NM_033068.3(ACP4):c.974C>A (p.Ala325Asp)	ACP4 (A325D)	Single nucleotide variant (missense variant)	ACP4-related disorder	GBenign
Select item 3049541	NM_033068.3(ACP4):c.1023C>T (p.Ser341=)	ACP4	Single nucleotide variant (synonymous variant)	ACP4-related disorder	GLikely benign
Select item 3046958	NM_033068.3(ACP4):c.1165+2T>G	ACP4	Single nucleotide variant (splice donor variant)	ACP4-related disorder	GLikely benign