"GeneDx"[submitter] AND "HGSNAT"[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 59783	GRCh38/hg38 8p11.22-q11.21(chr8:39830633-49209461)x3	ADAM2, ANK1 +184 more	Copy number gain	See cases	GPathogenic
Select item 59784	GRCh38/hg38 8p11.21-11.1(chr8:39981424-43532444)x3	ANK1, AP3M2 +121 more	Copy number gain	See cases	GPathogenic
Select item 59786	GRCh38/hg38 8p11.21-q11.21(chr8:41845699-47893948)x3	DKK4, FNTA +86 more	Copy number gain	See cases	GPathogenic
Select item 59807	GRCh38/hg38 8p11.21-11.1(chr8:42535063-43541633)x3	CHRNA6, CHRNB3 +34 more	Copy number gain	See cases	GBenign
Select item 152192	GRCh38/hg38 8p11.21-11.1(chr8:43103284-43533090)x3	HGSNAT, LOC121740716 +8 more	Copy number gain	See cases	GBenign/Likely benign
Select item 674251	NM_152419.2(HGSNAT):c.-174G>A	HGSNAT, LOC130000316	Single nucleotide variant	not provided	GBenign
Select item 1205172	NC_000008.11:g.43140436G>A	HGSNAT, LOC130000316	Single nucleotide variant	not provided	GLikely benign
Select item 2504228	NM_152419.3(HGSNAT):c.20C>T (p.Ala7Val)	HGSNAT, LOC130000316 (A7V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1201110	NM_152419.3(HGSNAT):c.118+32G>C	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257333	NM_152419.3(HGSNAT):c.118+54C>T	LOC130000316, HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706718	NM_152419.3(HGSNAT):c.118+69C>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706252	NM_152419.3(HGSNAT):c.118+221G>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1240829	NM_152419.3(HGSNAT):c.118+333C>T	HGSNAT, LOC130000316	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266877	NM_152419.3(HGSNAT):c.119-164del	HGSNAT	Deletion (intron variant)	not provided	GBenign
Select item 1295024	NM_152419.3(HGSNAT):c.119-23del	HGSNAT	Deletion (intron variant)	not provided	GBenign
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 1244027	NM_152419.3(HGSNAT):c.234+331C>T	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231369	NM_152419.3(HGSNAT):c.235-75G>A	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
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 850055	NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr)	HGSNAT (S109Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1321750	NM_152419.3(HGSNAT):c.332T>C (p.Leu111Pro)	HGSNAT (L111P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1177021	NM_152419.3(HGSNAT):c.371+82C>T	HGSNAT	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GBenign
Select item 911654	NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser)	HGSNAT (P165S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 73 +2 more	GUncertain significance
Select item 262647	NM_152419.3(HGSNAT):c.493+46G>T	HGSNAT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1267187	NM_152419.3(HGSNAT):c.493+120G>A	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706868	NM_152419.3(HGSNAT):c.493+836G>A	HGSNAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 252961	NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp)	HGSNAT (G173D)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +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 1245533	NM_152419.3(HGSNAT):c.563+50C>T	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264846	NM_152419.3(HGSNAT):c.564-112_564-109del	HGSNAT	Deletion (intron variant)	not provided	GBenign
Select item 1282452	NM_152419.3(HGSNAT):c.633+210G>A	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684160	NM_152419.3(HGSNAT):c.633+240T>G	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 972000	NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)	HGSNAT (R239C)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 426971	NM_152419.3(HGSNAT):c.739del (p.Arg247fs)	HGSNAT (R247fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic
Select item 1304206	NM_152419.3(HGSNAT):c.740G>C (p.Arg247Thr)	HGSNAT (R247T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1229660	NM_152419.3(HGSNAT):c.820+123C>T	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227353	NM_152419.3(HGSNAT):c.821-276G>A	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219409	NM_152419.3(HGSNAT):c.821-235T>A	HGSNAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 504466	NM_152419.3(HGSNAT):c.852-2A>C	HGSNAT	Single nucleotide variant (splice acceptor variant +1 more)	not provided +2 more	GPathogenic
Select item 551378	NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His)	HGSNAT (R344H +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GPathogenic/Likely pathogenic
Select item 373465	NM_152419.3(HGSNAT):c.1102A>T (p.Lys368Ter)	HGSNAT (K368* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 684171	NM_152419.3(HGSNAT):c.1129-222G>A	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 549921	NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter)	HGSNAT (R384* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-C +3 more	GPathogenic
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 96500	NM_152419.3(HGSNAT):c.1250+1G>A	HGSNAT	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1210998	NM_152419.3(HGSNAT):c.1250+342dup	HGSNAT	Duplication (intron variant)	not provided	GLikely benign
Select item 684173	NM_152419.3(HGSNAT):c.1251-291G>C	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261682	NM_152419.3(HGSNAT):c.1251-289G>A	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283013	NM_152419.3(HGSNAT):c.1251-220A>G	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253904	NM_152419.3(HGSNAT):c.1251-130C>T	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260440	NM_152419.3(HGSNAT):c.1251-47C>T	HGSNAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422050	NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)	HGSNAT (G423W +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2572961	NM_152419.3(HGSNAT):c.1286G>T (p.Gly429Val)	HGSNAT (G141V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 866424	NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)	HGSNAT (R380C +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 96501	NM_152419.3(HGSNAT):c.1377+20G>A	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +3 more	GBenign
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 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 1213009	NM_152419.3(HGSNAT):c.1464+145G>A	HGSNAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259914	NM_152419.3(HGSNAT):c.1464+216dup	HGSNAT	Duplication (intron variant)	not provided	GBenign
Select item 3373167	NM_152419.3(HGSNAT):c.1466C>T (p.Ala489Val)	HGSNAT (A201V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 552134	NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter)	HGSNAT (R506* +3 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-III-C +3 more	GPathogenic
Select item 1200748	NM_152419.3(HGSNAT):c.1543-74A>G	HGSNAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 427177	NM_152419.3(HGSNAT):c.1634C>A (p.Thr545Lys)	HGSNAT (T545K +3 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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
Select item 871844	NM_152419.3(HGSNAT):c.1726G>T (p.Gly576Ter)	HGSNAT (G288* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 1199748	NM_152419.3(HGSNAT):c.1727-106T>G	HGSNAT	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1144370	NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=)	HGSNAT	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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
Select item 420117	NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)	HGSNAT (Y627C +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +4 more	GConflicting classifications of pathogenicity

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Items: 78