"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "HGSNAT"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 968935	NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro)	HGSNAT, LOC130000316 (L11P)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 +1 more	GConflicting classifications of pathogenicity
Select item 363142	NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GConflicting classifications of pathogenicity
Select item 3379820	NM_152419.3(HGSNAT):c.782G>A (p.Gly261Glu)	HGSNAT (G261E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 558991	NM_152419.3(HGSNAT):c.1170del (p.Trp390fs)	HGSNAT (W390fs +2 more)	Deletion (frameshift variant)	Retinitis pigmentosa 73 +2 more	GPathogenic
Select item 363147	NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)	HGSNAT (P413S +2 more)	Single nucleotide variant (missense variant)	Sanfilippo syndrome +5 more	GConflicting classifications of pathogenicity
Select item 719495	NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile)	HGSNAT (T129I +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
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 363150	NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)	HGSNAT (K523Q +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 496837	NM_152419.3(HGSNAT):c.1727-9C>G	HGSNAT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 96503	NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=)	HGSNAT	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 73 +3 more	GBenign
Select item 719496	NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys)	HGSNAT (E523K +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 167178	NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile)	HGSNAT (V614I +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 208816	NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	HGSNAT (A615T +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity