"Ambry Genetics"[submitter] AND "AP1S2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 588732	NM_001272071.2(AP1S2):c.*1C>T	AP1S2	Single nucleotide variant (3 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 434218	NM_001272071.2(AP1S2):c.289-8C>T	AP1S2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 157714	NM_001272071.2(AP1S2):c.288T>C (p.Ser96=)	AP1S2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2318087	NM_001272071.2(AP1S2):c.160C>G (p.Leu54Val)	AP1S2 (L54V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2218349	NM_001272071.2(AP1S2):c.112G>A (p.Val38Ile)	AP1S2 (V38I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1756051	NM_001272071.2(AP1S2):c.68C>G (p.Ser23Ter)	AP1S2 (S23*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic

ClinVar