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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92610	NM_000199.5(SGSH):c.1367G>A (p.Arg456His)	SGSH (R456H)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GBenign
Select item 1297691	NM_000199.5(SGSH):c.1130G>A (p.Arg377His)	SGSH (R377H)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 5117	NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)	SGSH (E369K)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 30459	NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)	SGSH (S298P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic
Select item 5107	NM_000199.5(SGSH):c.734G>A (p.Arg245His)	CARD14, SGSH (R245H)	Single nucleotide variant (missense variant +1 more)	SGSH-related condition +4 more	GPathogenic
Select item 92612	NM_000199.5(SGSH):c.663+17T>C	SGSH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 5108	NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)	SGSH (R74C)	Single nucleotide variant (missense variant +1 more)	Abnormal circulating carbohydrate concentration +2 more	GPathogenic/Likely pathogenic

ClinVar