"Illumina Laboratory Services, Illumina"[submitter] AND "LOC130000316" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 363135	NM_152419.2(HGSNAT):c.-37C>T	HGSNAT, LOC130000316	Single nucleotide variant	Sanfilippo syndrome	GUncertain significance
Select item 910428	NM_152419.3(HGSNAT):c.-3G>C	HGSNAT, LOC130000316	Single nucleotide variant (5 prime UTR variant)	Mucopolysaccharidosis, MPS-III-C	GUncertain significance
Select item 363136	NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys)	HGSNAT, LOC130000316 (R6K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 910429	NM_152419.3(HGSNAT):c.63G>A (p.Ala21=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GBenign
Select item 363137	NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GConflicting classifications of pathogenicity
Select item 363138	NM_152419.3(HGSNAT):c.111G>A (p.Pro37=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GConflicting classifications of pathogenicity

ClinVar