Related gene-specific medical variations for Gene (Select 2799) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244247	NC_000012.11:g.(?_65094311)_(65130836_?)del	GNS	Deletion	Mucopolysaccharidosis, MPS-III-D	GLikely pathogenic
Select item 3244246	NC_000012.11:g.(?_65110521)_(65116913_?)del	GNS	Deletion	Mucopolysaccharidosis, MPS-III-D	GLikely pathogenic
Select item 3064499	NM_002076.4(GNS):c.447A>C (p.Lys149Asn)	GNS (K149N)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance
Select item 2690616	NM_002076.4(GNS):c.616_617del (p.Asp206fs)	GNS (D206fs)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-D	GLikely pathogenic
Select item 2501802	NM_002076.4(GNS):c.732C>A (p.Tyr244Ter)	GNS (Y244*)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 1323028	NM_002076.4(GNS):c.459+1_459+2del	GNS	Deletion (splice donor variant)	Mucopolysaccharidosis, MPS-III-D	GPathogenic
Select item 990668	NM_002076.4(GNS):c.*3dup	GNS	Duplication (3 prime UTR variant)	Mucopolysaccharidosis, MPS-III-D	GUncertain significance

ClinVar