"Eurofins Ntd Llc (ga)"[submitter] AND "SGSH"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 284238	NM_000199.5(SGSH):c.1337A>G (p.His446Arg)	SGSH (H446R)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GLikely benign
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 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 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 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 289150	NM_000199.5(SGSH):c.1135G>A (p.Val379Met)	SGSH (V379M)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
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 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 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 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 255512	NM_000199.5(SGSH):c.1002C>T (p.Ala334=)	SGSH	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 198404	NM_000199.5(SGSH):c.841G>T (p.Gly281Cys)	SGSH (G281C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 289108	NM_000199.5(SGSH):c.816C>T (p.Ser272=)	SGSH	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 198058	NM_000199.5(SGSH):c.734G>T (p.Arg245Leu)	SGSH (R245L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
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 290032	NM_000199.5(SGSH):c.701C>G (p.Ala234Gly)	SGSH (A234G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 167682	NM_000199.5(SGSH):c.664-39_664-36delinsGC	SGSH	Indel (intron variant)	not specified +1 more	GBenign
Select item 92612	NM_000199.5(SGSH):c.663+17T>C	SGSH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 499731	NM_000199.5(SGSH):c.297C>G (p.Asn99Lys)	SGSH (N99K)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-A +1 more	GUncertain significance
Select item 499730	NM_000199.5(SGSH):c.292T>C (p.Phe98Leu)	SGSH (F98L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 92611	NM_000199.5(SGSH):c.211T>C (p.Ser71Pro)	SGSH (S71P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 92613	NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)	SGSH (G33R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 167683	NM_000199.5(SGSH):c.78GCT[3] (p.Leu29dup)	SGSH	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance

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Items: 28