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

Search results

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583194	NM_001366385.1(CARD14):c.1901C>T (p.Thr634Met)	SGSH, CARD14 (T634M)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 842525	NM_001366385.1(CARD14):c.2038T>C (p.Tyr680His)	CARD14, SGSH (Y680H)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 3263299	NM_001366385.1(CARD14):c.2042T>G (p.Ile681Ser)	CARD14, SGSH (I681S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3137301	NM_001366385.1(CARD14):c.2078G>T (p.Gly693Val)	CARD14, SGSH (G693V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2176688	NM_001366385.1(CARD14):c.2153C>T (p.Ala718Val)	CARD14, SGSH (A718V)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 1509202	NM_001366385.1(CARD14):c.2210A>G (p.Asn737Ser)	CARD14, SGSH (N737S)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 493221	NM_001366385.1(CARD14):c.2257A>G (p.Thr753Ala)	CARD14, SGSH (T753A)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +3 more	GConflicting classifications of pathogenicity
Select item 569055	NM_001366385.1(CARD14):c.2279G>A (p.Arg760His)	CARD14, SGSH (R760H)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +3 more	GConflicting classifications of pathogenicity
Select item 647214	NM_001366385.1(CARD14):c.2320G>A (p.Val774Ile)	CARD14, SGSH (V774I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 527888	NM_001366385.1(CARD14):c.2335G>A (p.Ala779Thr)	CARD14, SGSH (A779T)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GBenign/Likely benign
Select item 1062002	NM_001366385.1(CARD14):c.2354G>A (p.Arg785His)	CARD14, SGSH (R785H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2940023	NM_001366385.1(CARD14):c.2456T>C (p.Val819Ala)	SGSH, CARD14 +1 more (V819A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 641359	NM_001366385.1(CARD14):c.2477G>A (p.Arg826Gln)	LOC126862662, CARD14 +1 more (R826Q)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GConflicting classifications of pathogenicity
Select item 2487144	NM_001366385.1(CARD14):c.2500C>G (p.Pro834Ala)	CARD14, LOC126862662 +1 more (P834A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 642022	NM_001366385.1(CARD14):c.2527G>A (p.Glu843Lys)	CARD14, LOC126862662 +1 more (E843K)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 527866	NM_001366385.1(CARD14):c.2606A>G (p.Gln869Arg)	LOC126862662, CARD14 +1 more (Q869R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1400007	NM_001366385.1(CARD14):c.2674G>C (p.Glu892Gln)	CARD14, LOC126862662 +1 more (E892Q)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 3263301	NM_001366385.1(CARD14):c.2722G>T (p.Asp908Tyr)	CARD14, SGSH (D908Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 964008	NM_001366385.1(CARD14):c.2740C>A (p.His914Asn)	CARD14, SGSH (H914N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 650257	NM_001366385.1(CARD14):c.2773G>A (p.Val925Ile)	CARD14, SGSH (V925I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 643829	NM_001366385.1(CARD14):c.2871G>C (p.Glu957Asp)	CARD14, SGSH (E957D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1347490	NM_001366385.1(CARD14):c.2884C>T (p.Arg962Trp)	CARD14, SGSH (R962W)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GUncertain significance
Select item 1003476	NM_001366385.1(CARD14):c.2938G>A (p.Gly980Ser)	CARD14, SGSH (G980S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2547415	NM_001366385.1(CARD14):c.2944C>T (p.Leu982Phe)	CARD14, SGSH (L982F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 658473	NM_001366385.1(CARD14):c.2956C>T (p.Arg986Cys)	CARD14, SGSH (R986C)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1039431	NM_001366385.1(CARD14):c.3006C>A (p.Ser1002Arg)	CARD14, SGSH (S1002R)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 3161053	NM_000199.5(SGSH):c.1484G>C (p.Cys495Ser)	SGSH (C495S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2275095	NM_000199.5(SGSH):c.1472T>G (p.Leu491Arg)	SGSH (L491R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 325826	NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys)	SGSH (E488K)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 569858	NM_000199.5(SGSH):c.1456G>A (p.Val486Ile)	SGSH (V486I)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 2142885	NM_000199.5(SGSH):c.1450G>A (p.Asp484Asn)	SGSH (D484N)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 1454739	NM_000199.5(SGSH):c.1426del (p.His476fs)	SGSH (H476fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GPathogenic
Select item 2068026	NM_000199.5(SGSH):c.1394G>A (p.Arg465Gln)	SGSH (R465Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 3161052	NM_000199.5(SGSH):c.1358C>G (p.Thr453Ser)	SGSH (T453S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 325828	NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln)	SGSH (R443Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GConflicting classifications of pathogenicity
Select item 1400041	NM_000199.5(SGSH):c.1304G>T (p.Arg435Leu)	SGSH (R435L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 559102	NM_000199.5(SGSH):c.1301C>T (p.Ala434Val)	SGSH (A434V)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
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 1121395	NM_000199.5(SGSH):c.1253G>A (p.Gly418Asp)	SGSH (G418D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1176365	NM_000199.5(SGSH):c.1244C>G (p.Thr415Ser)	SGSH (T415S)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1523174	NM_000199.5(SGSH):c.1190C>T (p.Pro397Leu)	SGSH (P397L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1411448	NM_000199.5(SGSH):c.1154G>A (p.Arg385His)	SGSH (R385H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 521903	NM_000199.5(SGSH):c.1084T>G (p.Phe362Val)	SGSH (F362V)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 325834	NM_000199.5(SGSH):c.1076C>T (p.Ala359Val)	SGSH (A359V)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GUncertain significance
Select item 1466501	NM_000199.5(SGSH):c.1052C>T (p.Ala351Val)	SGSH (A351V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
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 969584	NM_000199.5(SGSH):c.964A>G (p.Ile322Val)	SGSH (I322V)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 2202528	NM_000199.5(SGSH):c.956C>T (p.Thr319Met)	SGSH (T319M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2255828	NM_000199.5(SGSH):c.921A>T (p.Gln307His)	SGSH (Q307H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2004816	NM_000199.5(SGSH):c.803T>C (p.Val268Ala)	SGSH (V268A)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 2335880	NM_000199.5(SGSH):c.794A>G (p.Asp265Gly)	SGSH (D265G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 889909	NM_000199.5(SGSH):c.781G>A (p.Gly261Ser)	SGSH (G261S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2180749	NM_000199.5(SGSH):c.778G>A (p.Ala260Thr)	SGSH (A260T)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
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 1514303	NM_000199.5(SGSH):c.727G>A (p.Val243Ile)	SGSH (V243I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 325840	NM_000199.5(SGSH):c.676G>A (p.Val226Ile)	SGSH (V226I)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 891714	NM_000199.5(SGSH):c.585G>C (p.Glu195Asp)	SGSH (E195D)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 2466499	NM_000199.5(SGSH):c.563C>A (p.Pro188His)	SGSH (P188H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1027170	NM_000199.5(SGSH):c.523G>A (p.Val175Ile)	SGSH (V175I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2201016	NM_000199.5(SGSH):c.508C>G (p.Pro170Ala)	SGSH (P170A)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 2051714	NM_000199.5(SGSH):c.433G>A (p.Val145Ile)	SGSH (V145I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2065088	NM_000199.5(SGSH):c.350G>A (p.Arg117His)	SGSH (R117H)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 2141856	NM_000199.5(SGSH):c.344G>T (p.Gly115Val)	SGSH (G115V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1419113	NM_000199.5(SGSH):c.314G>A (p.Arg105Gln)	SGSH (R105Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2146639	NM_000199.5(SGSH):c.304G>A (p.Asp102Asn)	SGSH (D102N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3161054	NM_000199.5(SGSH):c.295A>G (p.Asn99Asp)	SGSH (N99D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1920632	NM_000199.5(SGSH):c.164G>A (p.Arg55His)	SGSH (R55H)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 1437170	NM_000199.5(SGSH):c.115G>A (p.Ala39Thr)	SGSH (A39T)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 3161055	NM_000199.5(SGSH):c.31C>G (p.Leu11Val)	SGSH (L11V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 74