"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "AASS"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559310	NM_005763.4(AASS):c.2459A>G (p.Lys820Arg)	AASS (K820R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 559311	NM_005763.4(AASS):c.1989G>T (p.Gln663His)	AASS (Q663H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559312	NM_005763.4(AASS):c.1681C>T (p.Leu561Phe)	AASS (L561F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377290	NM_005763.4(AASS):c.1678C>T (p.Pro560Ser)	AASS (P560S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 559313	NM_005763.4(AASS):c.1407-7del	AASS	Deletion (intron variant)	not provided	GBenign
Select item 559314	NM_005763.4(AASS):c.1293G>A (p.Ala431=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 559315	NM_005763.4(AASS):c.168G>A (p.Lys56=)	AASS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

ClinVar