"Fulgent Genetics, Fulgent Genetics"[submitter] AND "HGSNAT"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 855589	NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)	HGSNAT (L49M)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +1 more	GUncertain significance
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 853898	NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys)	HGSNAT (R124K)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1236	NM_152419.3(HGSNAT):c.372-2A>G	HGSNAT	Single nucleotide variant (splice acceptor variant)	Sanfilippo syndrome +2 more	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)	not provided +2 more	GPathogenic
Select item 751772	NM_152419.3(HGSNAT):c.576T>C (p.Phe192=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GLikely benign
Select item 908707	NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)	HGSNAT (P237L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
Select item 1232	NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)	HGSNAT (P283L)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +4 more	GPathogenic/Likely pathogenic
Select item 1367104	NM_152419.3(HGSNAT):c.995A>G (p.Asn332Ser)	HGSNAT (N44S +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1237	NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)	HGSNAT (R344C +2 more)	Single nucleotide variant (missense variant)	Sanfilippo syndrome +4 more	GConflicting classifications of pathogenicity
Select item 363146	NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=)	HGSNAT	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 73 +1 more	GUncertain significance
Select item 208817	NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)	HGSNAT (W403C +2 more)	Single nucleotide variant (missense variant)	HGSNAT-related disorder +2 more	GUncertain significance
Select item 363148	NM_152419.3(HGSNAT):c.1250+7G>A	HGSNAT	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 853455	NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser)	HGSNAT (P134S +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 1074147	NM_152419.3(HGSNAT):c.1348del (p.Asp450fs)	HGSNAT (D162fs +2 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GPathogenic
Select item 265483	NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)	HGSNAT (E471K +2 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 73 +3 more	GPathogenic
Select item 840032	NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs)	HGSNAT (I416fs +2 more)	Duplication (frameshift variant)	Retinitis pigmentosa 73 +1 more	GPathogenic
Select item 96502	NM_152419.3(HGSNAT):c.1464+1G>A	HGSNAT	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 73 +2 more	GPathogenic/Likely pathogenic
Select item 965207	NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met)	HGSNAT (T257M +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 910489	NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met)	HGSNAT (V499M +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
Select item 582509	NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg)	HGSNAT (V499R +3 more)	Indel (missense variant)	Mucopolysaccharidosis, MPS-III-C +1 more	GUncertain significance
Select item 363151	NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly)	HGSNAT (V563G +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
Select item 363152	NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)	HGSNAT (G565R +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +3 more	GBenign/Likely benign

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Items: 24