Related gene-specific medical variations for Gene (Select 10157) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065764	NM_005763.4(AASS):c.2397-1G>T	AASS	Single nucleotide variant (splice acceptor variant)	Hyperlysinemia	GLikely pathogenic
Select item 2438707	NM_005763.4(AASS):c.1733A>G (p.Tyr578Cys)	AASS (Y578C)	Single nucleotide variant (missense variant)	Hyperlysinemia	GUncertain significance
Select item 1527389	GRCh37/hg19 7q31.32(chr7:121734708-121799648)	AASS	Copy number loss	not specified	GUncertain significance
Select item 1322091	NM_005763.4(AASS):c.2100T>G (p.Tyr700Ter)	AASS (Y700*)	Single nucleotide variant (nonsense)	Hyperlysinemia	GPathogenic
Select item 1098670	NM_005763.4(AASS):c.1393C>G (p.Leu465Val)	AASS (L465V)	Single nucleotide variant (missense variant)	Hyperlysinemia	GUncertain significance
Select item 688682	GRCh37/hg19 7q31.32(chr7:121734934-121803684)x1	AASS	Copy number loss	not provided	GPathogenic
Select item 687530	GRCh37/hg19 7q31.32(chr7:121734181-121803684)x1	AASS	Copy number loss	not provided	GPathogenic
Select item 563283	GRCh37/hg19 7q31.32(chr7:121734708-121803926)x1	AASS	Copy number loss	not provided	GUncertain significance

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