"Baylor Genetics"[submitter] AND "SGSH"[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1075946	NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter)	SGSH (W471*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 3240458	NM_000199.5(SGSH):c.1401del (p.Gln467fs)	SGSH (Q467fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 556145	NM_000199.5(SGSH):c.1380del (p.Leu461fs)	SGSH (L461fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GConflicting classifications of pathogenicity
Select item 619124	NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter)	SGSH (Q459*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 3240452	NM_000199.5(SGSH):c.1367_1368del (p.Arg456fs)	SGSH (R456fs)	Microsatellite (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 2894590	NM_000199.5(SGSH):c.1345C>T (p.Gln449Ter)	SGSH (Q449*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 1401367	NM_000199.5(SGSH):c.1345del (p.Gln449fs)	SGSH (Q449fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 5114	NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)	SGSH (E447K)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GPathogenic/Likely pathogenic
Select item 2678715	NM_000199.5(SGSH):c.1317C>A (p.Tyr439Ter)	SGSH (Y439*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 1419099	NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys)	SGSH	Deletion (inframe_indel +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 5109	NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)	SGSH (R433Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GPathogenic/Likely pathogenic
Select item 551014	NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)	SGSH (R433W)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240457	NM_000199.5(SGSH):c.1290C>A (p.Tyr430Ter)	SGSH (Y430*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 287037	NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)	SGSH	Deletion (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic
Select item 2678727	NM_000199.5(SGSH):c.1228_1241del (p.Asp410fs)	SGSH (D410fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 555736	NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter)	SGSH (Q409*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 2678719	NM_000199.5(SGSH):c.1218del (p.Thr407fs)	SGSH (T407fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 550465	NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys)	SGSH (N389K)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550252	NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)	SGSH (N389S)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 92608	NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg)	SGSH	Insertion (inframe_insertion +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 279891	NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)	SGSH (Q380R)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic
Select item 550040	NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter)	SGSH (Q380*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 280988	NM_000199.5(SGSH):c.1135del (p.Val379fs)	SGSH (V379fs)	Deletion (frameshift variant +2 more)	Sanfilippo syndrome +2 more	GPathogenic
Select item 1297691	NM_000199.5(SGSH):c.1130G>A (p.Arg377His)	SGSH (R377H)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 559103	NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)	SGSH (R377C)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 5117	NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys)	SGSH (E369K)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic/Likely pathogenic
Select item 1450886	NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs)	SGSH (S364fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 1494087	NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter)	SGSH (Q365*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 2678725	NM_000199.5(SGSH):c.1085_1086del (p.Phe362fs)	SGSH (F362fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 518268	NM_000199.5(SGSH):c.1080del (p.Val361fs)	SGSH (V361fs)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 2678723	NM_000199.5(SGSH):c.1073G>A (p.Trp358Ter)	SGSH (W358*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 2678729	NM_000199.5(SGSH):c.1069dup (p.Leu357fs)	SGSH (L357fs)	Duplication (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 2678731	NM_000199.5(SGSH):c.1063G>T (p.Glu355Ter)	SGSH (E355*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 325835	NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)	SGSH (E355K)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 2678728	NM_000199.5(SGSH):c.1062del (p.Glu355fs)	SGSH (E355fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 2678720	NM_000199.5(SGSH):c.1042_1055delinsA (p.Leu348fs)	SGSH (L348fs)	Indel (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 556217	NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)	SGSH (S347F)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 198694	NM_000199.5(SGSH):c.1027dup (p.Leu343fs)	SGSH (L343fs)	Duplication (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A +3 more	GPathogenic
Select item 2503902	NM_000199.5(SGSH):c.1000dup (p.Ala334fs)	SGSH (A334fs)	Duplication (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 2678718	NM_000199.5(SGSH):c.949+1G>A	SGSH	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 555619	NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)	SGSH (R304L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 1437845	NM_000199.5(SGSH):c.909del (p.Lys303fs)	SGSH (K303fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 30459	NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)	SGSH (S298P)	Single nucleotide variant (missense variant +1 more)	Sanfilippo syndrome +2 more	GPathogenic
Select item 265258	NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)	SGSH (P293S)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GPathogenic/Likely pathogenic
Select item 2678733	NM_000199.5(SGSH):c.866_867del (p.Gly289fs)	SGSH (G289fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 1494107	NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)	SGSH (G275R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 522769	NM_000199.5(SGSH):c.812C>T (p.Thr271Met)	SGSH (T271M)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 3240455	NM_000199.5(SGSH):c.763C>T (p.Gln255Ter)	SGSH (Q255*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 1069492	NM_000199.5(SGSH):c.757del (p.Val253fs)	SGSH (V253fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic
Select item 730805	NM_000199.5(SGSH):c.752G>C (p.Gly251Ala)	SGSH (G251A)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GConflicting classifications of pathogenicity
Select item 936519	NM_000199.5(SGSH):c.745+1G>C	SGSH	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 5107	NM_000199.5(SGSH):c.734G>A (p.Arg245His)	CARD14, SGSH (R245H)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +3 more	GPathogenic
Select item 1325064	NM_000199.5(SGSH):c.733C>T (p.Arg245Cys)	SGSH (R245C)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 1452542	NM_000199.5(SGSH):c.693_705del (p.Ala232fs)	SGSH (A232fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 553004	NM_000199.5(SGSH):c.703G>A (p.Asp235Asn)	SGSH (D235N)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GPathogenic/Likely pathogenic
Select item 2678726	NM_000199.5(SGSH):c.691_698del (p.Ala231fs)	SGSH (A231fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 370732	NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)	SGSH (R233*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 235357	NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)	SGSH (F225L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2678732	NM_000199.5(SGSH):c.670del (p.Tyr224fs)	SGSH (Y224fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 2678716	NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)	SGSH (Y215*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 280083	NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)	SGSH (W210*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5118	NM_000199.5(SGSH):c.617G>C (p.Arg206Pro)	SGSH (R206P)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 557068	NM_000199.5(SGSH):c.582T>A (p.Cys194Ter)	SGSH (C194*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic
Select item 372781	NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)	SGSH (G191R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic/Likely pathogenic
Select item 1071734	NM_000199.5(SGSH):c.545G>A (p.Arg182His)	SGSH (R182H)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 523015	NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)	SGSH (R182C)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic/Likely pathogenic
Select item 2138120	NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)	SGSH (D179N)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GConflicting classifications of pathogenicity
Select item 3240453	NM_000199.5(SGSH):c.506+2T>A	SGSH	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 1365580	NM_000199.5(SGSH):c.506+1G>A	SGSH	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 654350	NM_000199.5(SGSH):c.490C>T (p.Gln164Ter)	SGSH (Q164*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 1075867	NM_000199.5(SGSH):c.466A>T (p.Lys156Ter)	SGSH (K156*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 3240454	NM_000199.5(SGSH):c.453del (p.Asn151fs)	SGSH (N151fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 5113	NM_000199.5(SGSH):c.449G>A (p.Arg150Gln)	SGSH (R150Q)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 638088	NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)	SGSH (R150W)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GConflicting classifications of pathogenicity
Select item 551670	NM_000199.5(SGSH):c.416C>T (p.Thr139Met)	SGSH (T139M)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 1405407	NM_000199.5(SGSH):c.398del (p.Pro133fs)	SGSH (P133fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 5110	NM_000199.5(SGSH):c.383C>T (p.Pro128Leu)	SGSH (P128L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 2678721	NM_000199.5(SGSH):c.356-29_380del	SGSH	Deletion (splice acceptor variant)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 518269	NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)	SGSH (G122R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GPathogenic/Likely pathogenic
Select item 372692	NM_000199.5(SGSH):c.356-2A>G	SGSH	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic/Likely pathogenic
Select item 2736687	NM_000199.5(SGSH):c.301_303del (p.Phe101del)	SGSH (F101del)	Deletion (inframe_deletion)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 1066348	NM_000199.5(SGSH):c.268G>C (p.Gly90Arg)	SGSH (G90R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 550542	NM_000199.5(SGSH):c.268G>A (p.Gly90Arg)	SGSH (G90R)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-A	GPathogenic/Likely pathogenic
Select item 983123	NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter)	SGSH (Y89*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3240456	NM_000199.5(SGSH):c.247C>T (p.Gln83Ter)	SGSH (Q83*)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 372782	NM_000199.5(SGSH):c.235A>C (p.Thr79Pro)	SGSH (T79P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550504	NM_000199.5(SGSH):c.221G>A (p.Arg74His)	SGSH (R74H)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic/Likely pathogenic
Select item 5108	NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)	SGSH (R74C)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GPathogenic/Likely pathogenic
Select item 551570	NM_000199.5(SGSH):c.216del (p.Ser73fs)	SGSH (S73fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic
Select item 5111	NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)	SGSH, SLC26A11 (S66W)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +3 more	GPathogenic
Select item 381685	NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)	SGSH (A44T)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 2992827	NM_000199.5(SGSH):c.48del (p.Leu17fs)	SGSH (L17fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GPathogenic
Select item 2678724	NM_000199.5(SGSH):c.7_16del (p.Cys3fs)	SGSH, LOC130061900 (C3fs)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely pathogenic

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Items: 93