"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92588	NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro)	GUSB (L649P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 633257	NM_000181.4(GUSB):c.1874_1875del (p.Arg625fs)	GUSB (R406fs +3 more)	Microsatellite (frameshift variant +1 more)	Mucopolysaccharidosis type 7	GPathogenic
Select item 1013739	NM_000181.4(GUSB):c.1790-2dup	GUSB	Duplication (splice acceptor variant)	not specified +1 more	GUncertain significance
Select item 2501050	NM_000181.4(GUSB):c.1786del (p.Gln596fs)	GUSB (Q377fs +3 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 92587	NM_000181.4(GUSB):c.1740C>T (p.Tyr580=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 1899897	NM_000181.4(GUSB):c.1729C>T (p.Arg577Cys)	GUSB (R358C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2581649	NM_000181.4(GUSB):c.1618G>A (p.Glu540Lys)	GUSB, LOC126860055 (E321K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 193563	NM_000181.4(GUSB):c.1534G>A (p.Gly512Arg)	GUSB, LOC126860055 (G512R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 900	NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter)	GUSB, LOC126860055 (W507* +3 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 7	GPathogenic
Select item 495724	NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter)	GUSB (W446* +3 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 6 +1 more	GPathogenic
Select item 975000	NM_000181.4(GUSB):c.1244+1G>A	GUSB	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis type 7	GPathogenic
Select item 1324522	NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu)	GUSB (P196L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1324520	NM_000181.4(GUSB):c.1222C>T (p.Pro408Ser)	GUSB (P189S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 2432343	NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)	GUSB (R179C +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GConflicting classifications of pathogenicity
Select item 1339727	NM_000181.4(GUSB):c.1145G>A (p.Arg382His)	GUSB (R163H +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GPathogenic/Likely pathogenic
Select item 2503897	NM_000181.4(GUSB):c.1135A>G (p.Asn379Asp)	GUSB (N160D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1037996	NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu)	GUSB (P218L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 92584	NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)	GUSB (D362N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908	NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)	GUSB (R357* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1705073	NM_000181.4(GUSB):c.1016A>G (p.Asn339Ser)	GUSB (N120S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1343444	NM_000181.4(GUSB):c.956T>C (p.Phe319Ser)	GUSB (F100S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2501051	NM_000181.4(GUSB):c.724+1G>T	GUSB	Single nucleotide variant (intron variant +1 more)	Mucopolysaccharidosis type 7	GLikely pathogenic
Select item 895	NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)	GUSB (R216W +1 more)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 7	GPathogenic/Likely pathogenic
Select item 905	NM_000181.4(GUSB):c.526C>T (p.Leu176Phe)	GUSB (L176F)	Single nucleotide variant (missense variant +2 more)	GUSB-related condition +3 more	GPathogenic
Select item 1878273	NM_000181.4(GUSB):c.406G>A (p.Gly136Arg)	GUSB (G136R)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 7	GLikely pathogenic
Select item 1696099	NM_000181.4(GUSB):c.151T>A (p.Phe51Ile)	GUSB (F51I)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1343443	NM_000181.4(GUSB):c.11G>A (p.Gly4Glu)	GUSB (G4E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1677099	NC_000007.13:g.(?_65425670)_(65447302_?)dup	GUSB	Duplication	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28