"Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Universit - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5114	NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)	SGSH (E447K)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 638091	NM_000199.5(SGSH):c.1147del (p.His383fs)	SGSH (H383fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 638090	NM_000199.5(SGSH):c.1097del (p.Ser366fs)	SGSH (S366fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 518268	NM_000199.5(SGSH):c.1080del (p.Val361fs)	SGSH (V361fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 5107	NM_000199.5(SGSH):c.734G>A (p.Arg245His)	CARD14, SGSH (R245H)	Single nucleotide variant (missense variant +1 more)	Sanfilippo syndrome +4 more	GPathogenic
Select item 5118	NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)	SGSH (R206P)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 523015	NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)	SGSH (R182C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 638089	NM_000199.5(SGSH):c.542A>G (p.His181Arg)	SGSH (H181R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 638088	NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)	SGSH (R150W)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GConflicting classifications of pathogenicity
Select item 518269	NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)	SGSH (G122R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 550504	NM_000199.5(SGSH):c.221G>A (p.Arg74His)	SGSH (R74H)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 5108	NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)	SGSH (R74C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 5111	NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)	SGSH, SLC26A11 (S66W)	Single nucleotide variant (missense variant +1 more)	Sanfilippo syndrome +4 more	GPathogenic
Select item 638087	NM_000199.5(SGSH):c.118T>A (p.Tyr40Asn)	SGSH (Y40N)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic