"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SGSH"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683443	NM_001366385.1(CARD14):c.2467C>T (p.Arg823Ter)	CARD14, LOC126862662 +1 more (R823*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 572536	NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp)	CARD14, LOC126862662 +1 more (R826W)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1504719	NM_001366385.1(CARD14):c.2569+2T>A	SGSH, CARD14 +1 more	Single nucleotide variant (splice donor variant)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 1693713	NM_001366385.1(CARD14):c.2570-3T>C	CARD14, LOC126862662 +1 more	Single nucleotide variant (intron variant)	Pityriasis rubra pilaris +2 more	GUncertain significance
Select item 1427388	NM_001366385.1(CARD14):c.2764G>A (p.Val922Ile)	CARD14, SGSH (V922I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1162825	NM_001366385.1(CARD14):c.2792T>A (p.Met931Lys)	CARD14, SGSH (M931K)	Single nucleotide variant (missense variant +1 more)	Pityriasis rubra pilaris +2 more	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 92610	NM_000199.5(SGSH):c.1367G>A (p.Arg456His)	SGSH (R456H)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 559101	NM_000199.5(SGSH):c.1317C>T (p.Tyr439=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis, MPS-III-A	GConflicting classifications of pathogenicity
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 255514	NM_000199.5(SGSH):c.1182G>T (p.Met394Ile)	SGSH (M394I)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign
Select item 92609	NM_000199.5(SGSH):c.1159G>A (p.Val387Met)	SGSH (V387M)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
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 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 255513	NM_000199.5(SGSH):c.1116G>A (p.Met372Ile)	SGSH (M372I)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign
Select item 92607	NM_000199.5(SGSH):c.1081G>A (p.Val361Ile)	SGSH (V361I)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +2 more	GBenign
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 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 325837	NM_000199.5(SGSH):c.746-4A>G	SGSH	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-A +1 more	GBenign
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 92612	NM_000199.5(SGSH):c.663+17T>C	SGSH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 559104	NM_000199.5(SGSH):c.658G>A (p.Val220Met)	SGSH (V220M)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GUncertain significance
Select item 559105	NM_000199.5(SGSH):c.606C>T (p.Ser202=)	SGSH	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
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 255515	NM_000199.5(SGSH):c.250-26C>T	SGSH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 559106	NM_000199.5(SGSH):c.249+25G>T	SGSH	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-III-A	GBenign
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 559107	NM_000199.5(SGSH):c.181C>T (p.Arg61Cys)	SGSH (R61C)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A	GLikely benign
Select item 559108	NM_000199.5(SGSH):c.88+23C>G	SGSH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3380524	NM_000199.5(SGSH):c.34C>G (p.Leu12Val)	SGSH (L12V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 30