"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30832	NM_152419.3(HGSNAT):c.234+1G>A	HGSNAT	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-III-C +4 more	GPathogenic
Select item 1284561	NM_152419.3(HGSNAT):c.493+5G>A	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GConflicting classifications of pathogenicity
Select item 1237	NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)	HGSNAT (R344C +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 73 +4 more	GConflicting classifications of pathogenicity
Select item 549921	NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter)	HGSNAT (R384* +2 more)	Single nucleotide variant (nonsense)	Sanfilippo syndrome +3 more	GPathogenic
Select item 96501	NM_152419.3(HGSNAT):c.1377+20G>A	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +3 more	GBenign
Select item 1238	NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe)	HGSNAT (S518F +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 73 +1 more	GPathogenic
Select item 96503	NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=)	HGSNAT	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 73 +3 more	GBenign

ClinVar