"Ambry Genetics"[submitter] AND "HGSNAT"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2241915	NM_152419.3(HGSNAT):c.-8CGGCGGGCATGAGCGGG[3] (p.Ala4delinsArgArgAlaTer)	HGSNAT, LOC130000316	Microsatellite (nonsense +2 more)	Inborn genetic diseases	GUncertain significance
Select item 496551	NM_152419.3(HGSNAT):c.-8_9dup (p.Ala4delinsArgArgAlaTer)	HGSNAT, LOC130000316	Duplication (nonsense +2 more)	not specified +2 more	GLikely benign
Select item 1978669	NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)	HGSNAT, LOC130000316 (S2R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GConflicting classifications of pathogenicity
Select item 2071762	NM_152419.3(HGSNAT):c.14G>T (p.Gly5Val)	HGSNAT, LOC130000316 (G5V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
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 2419913	NM_152419.3(HGSNAT):c.28G>C (p.Ala10Pro)	HGSNAT, LOC130000316 (A10P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
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 1413568	NM_152419.3(HGSNAT):c.82T>C (p.Ser28Pro)	HGSNAT, LOC130000316 (S28P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3284208	NM_152419.3(HGSNAT):c.86C>G (p.Ser29Trp)	HGSNAT, LOC130000316 (S29W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592134	NM_152419.3(HGSNAT):c.311G>C (p.Ser104Thr)	HGSNAT (S104T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284209	NM_152419.3(HGSNAT):c.422A>G (p.Asn141Ser)	HGSNAT (N141S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1412191	NM_152419.3(HGSNAT):c.461C>G (p.Ala154Gly)	HGSNAT (A154G)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
Select item 766581	NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala)	HGSNAT (V160A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GLikely benign
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 2193049	NM_152419.3(HGSNAT):c.675T>G (p.Asp225Glu)	HGSNAT (D225E)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
Select item 936730	NM_152419.3(HGSNAT):c.691T>C (p.Trp231Arg)	HGSNAT (W231R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3105675	NM_152419.3(HGSNAT):c.693G>T (p.Trp231Cys)	HGSNAT (W231C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 850628	NM_152419.3(HGSNAT):c.826A>G (p.Thr276Ala)	HGSNAT (T276A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2061278	NM_152419.3(HGSNAT):c.908G>A (p.Arg303Gln)	HGSNAT (R15Q +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
Select item 1039049	NM_152419.3(HGSNAT):c.1151G>T (p.Arg384Leu)	HGSNAT (R320L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 852014	NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met)	HGSNAT (L346M +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
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 715394	NM_152419.3(HGSNAT):c.1251-4C>T	HGSNAT	Single nucleotide variant (intron variant)	Retinitis pigmentosa 73 +2 more	GLikely benign
Select item 802403	NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp)	HGSNAT (N433D +2 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-C +2 more	GUncertain significance
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 3105673	NM_152419.3(HGSNAT):c.1331G>A (p.Arg444His)	HGSNAT (R156H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270152	NM_152419.3(HGSNAT):c.1431C>G (p.Ile477Met)	HGSNAT (I413M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529780	NM_152419.3(HGSNAT):c.1455dup (p.Gly486fs)	HGSNAT (G198fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2285060	NM_152419.3(HGSNAT):c.1614-2A>G	HGSNAT	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	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 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 2549223	NM_152419.3(HGSNAT):c.1744G>A (p.Val582Ile)	HGSNAT (V518I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519908	NM_152419.3(HGSNAT):c.1750G>A (p.Val584Ile)	HGSNAT (V296I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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: 37