"OMIM"[submitter] AND "HGSNAT"[gene] - ClinVar - NCBI

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Items: 14

	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 208815	NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)	HGSNAT (R124W)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1236	NM_152419.3(HGSNAT):c.372-2A>G	HGSNAT	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 73 +2 more	GPathogenic
Select item 208814	NM_152419.3(HGSNAT):c.398G>C (p.Gly133Ala)	HGSNAT (G133A)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73	GPathogenic
Select item 1230	NM_152419.3(HGSNAT):c.493+1G>A	HGSNAT	Single nucleotide variant (splice donor variant)	Sanfilippo syndrome +3 more	GPathogenic
Select item 1235	NM_152419.3(HGSNAT):c.525dup (p.Val176fs)	HGSNAT (V176fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 73 +2 more	GPathogenic
Select item 1232	NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)	HGSNAT (P283L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +4 more	GPathogenic/Likely pathogenic
Select item 1233	NM_152419.3(HGSNAT):c.962T>G (p.Leu321Ter)	HGSNAT (L321* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-C	GPathogenic
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 208817	NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)	HGSNAT (W403C +2 more)	Single nucleotide variant (missense variant)	HGSNAT-related condition +2 more	GUncertain significance
Select item 1231	NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs)	HGSNAT (D161fs +2 more)	Duplication (frameshift variant)	Retinitis pigmentosa 73 +1 more	GConflicting classifications of pathogenicity
Select item 1234	NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)	HGSNAT (M482K +2 more)	Single nucleotide variant (missense variant)	Sanfilippo syndrome +2 more	GLikely pathogenic
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 208816	NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)	HGSNAT (A615T +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 73 +6 more	GConflicting classifications of pathogenicity