"Dept Of Ophthalmology, Nagoya University"[submitter] AND "HGSNAT"[gen - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 363136	NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys)	HGSNAT, LOC130000316 (R6K)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +3 more	GConflicting classifications of pathogenicity
Select item 2941399	NM_152419.3(HGSNAT):c.30G>A (p.Ala10=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 73 +2 more	GConflicting classifications of pathogenicity
Select item 1103401	NM_152419.3(HGSNAT):c.60C>T (p.Ala20=)	HGSNAT, LOC130000316	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +2 more	GLikely benign
Select item 2129661	NM_152419.3(HGSNAT):c.135A>T (p.Arg45Ser)	HGSNAT (R45S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GUncertain significance
Select item 363139	NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile)	HGSNAT (V69I)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1140974	NM_152419.3(HGSNAT):c.258C>T (p.Asn86=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +2 more	GLikely benign
Select item 452146	NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile)	HGSNAT (V87I)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 3028070	NM_152419.3(HGSNAT):c.448G>A (p.Ala150Thr)	HGSNAT (A150T)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028072	NM_152419.3(HGSNAT):c.636G>C (p.Glu212Asp)	HGSNAT (E212D)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028071	NM_152419.3(HGSNAT):c.636G>A (p.Glu212=)	HGSNAT	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028073	NM_152419.3(HGSNAT):c.652A>G (p.Arg218Gly)	HGSNAT (R218G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 785726	NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met)	HGSNAT (T230M)	Single nucleotide variant (missense variant +1 more)	HGSNAT-related disorder +3 more	GBenign/Likely benign
Select item 1445044	NM_152419.3(HGSNAT):c.721C>T (p.Arg241Cys)	HGSNAT (R241C)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GUncertain significance
Select item 3028075	NM_152419.3(HGSNAT):c.801C>G (p.Phe267Leu)	HGSNAT (F267L)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028076	NM_152419.3(HGSNAT):c.820G>C (p.Gly274Arg)	HGSNAT (G274R +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 1232	NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)	HGSNAT (P283L)	Single nucleotide variant (missense variant +1 more)	Sanfilippo syndrome +4 more	GPathogenic/Likely pathogenic
Select item 933273	NM_152419.3(HGSNAT):c.1013-1G>C	HGSNAT	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 73 +2 more	GPathogenic/Likely pathogenic
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 638471	NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter)	HGSNAT (Q350* +2 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 73 +2 more	GPathogenic
Select item 3028077	NM_152419.3(HGSNAT):c.1081G>A (p.Val361Met)	HGSNAT (V297M +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1986952	NM_152419.3(HGSNAT):c.1228C>T (p.Leu410=)	HGSNAT	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-III-C +2 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)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 363149	NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=)	HGSNAT	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2154589	NM_152419.3(HGSNAT):c.1312G>A (p.Ala438Thr)	HGSNAT (A438T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 3028079	NM_152419.3(HGSNAT):c.1348G>A (p.Asp450Asn)	HGSNAT (D162N +2 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 864269	NM_152419.3(HGSNAT):c.1492G>C (p.Ala498Pro)	HGSNAT (A210P +3 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 73 +3 more	GUncertain significance
Select item 3028080	NM_152419.3(HGSNAT):c.1496G>A (p.Arg499Gln)	HGSNAT (R211Q +3 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028081	NM_152419.3(HGSNAT):c.1705_1707dup (p.Gly569_Thr570insGly)	HGSNAT	Duplication (inframe_insertion)	Retinal dystrophy	GUncertain significance
Select item 1144370	NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=)	HGSNAT	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign

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Items: 29