ClinVar for Gene (Select 126860055) - ClinVar

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

Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065164	NM_000181.4(GUSB):c.1517_1531del (p.Ser506_Asp510del)	GUSB, LOC126860055	Deletion (inframe_deletion +1 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 2989093	NM_000181.4(GUSB):c.1653+17T>C	GUSB, LOC126860055	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2980837	NM_000181.4(GUSB):c.1605C>T (p.Pro535=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2916065	NM_000181.4(GUSB):c.1644G>A (p.Gly548=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2831343	NM_000181.4(GUSB):c.1477-9T>C	GUSB, LOC126860055	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2808900	NM_000181.4(GUSB):c.1602G>A (p.Lys534=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2799172	NM_000181.4(GUSB):c.1477-5C>T	GUSB, LOC126860055	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2781212	NM_000181.4(GUSB):c.1477-1G>C	GUSB, LOC126860055	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis type 7	GLikely pathogenic
Select item 2777602	NM_000181.4(GUSB):c.1477-18C>T	GUSB, LOC126860055	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2776472	NM_000181.4(GUSB):c.1653+15G>A	GUSB, LOC126860055	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2769077	NM_000181.4(GUSB):c.1477-16G>T	GUSB, LOC126860055	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2730571	NM_000181.4(GUSB):c.1635G>A (p.Thr545=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2728535	NM_000181.4(GUSB):c.1530C>T (p.Asp510=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2725513	NM_000181.4(GUSB):c.1515C>T (p.Tyr505=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2720139	NM_000181.4(GUSB):c.1477-2A>G	GUSB, LOC126860055	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis type 7	GLikely pathogenic
Select item 2696664	NM_000181.4(GUSB):c.1506C>T (p.Asn502=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
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 2530609	NM_000181.4(GUSB):c.1642G>C (p.Gly548Arg)	GUSB, LOC126860055 (G548R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2432351	NM_000181.4(GUSB):c.1614G>C (p.Gln538His)	GUSB, LOC126860055 (Q319H +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 2280168	NM_000181.4(GUSB):c.1561C>G (p.Leu521Val)	GUSB, LOC126860055 (L302V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231212	NM_000181.4(GUSB):c.1583G>A (p.Trp528Ter)	GUSB, LOC126860055 (W528* +3 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2190645	NM_000181.4(GUSB):c.1581C>T (p.Asn527=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2133506	NM_000181.4(GUSB):c.1509C>T (p.Ser503=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2069998	NM_000181.4(GUSB):c.1527C>A (p.His509Gln)	GUSB, LOC126860055 (H363Q +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7 +2 more	GUncertain significance
Select item 2045312	NM_000181.4(GUSB):c.1533C>T (p.Tyr511=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 1805472	NM_000181.4(GUSB):c.1574T>C (p.Phe525Ser)	GUSB, LOC126860055 (F306S +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 1626457	NM_000181.4(GUSB):c.1527C>T (p.His509=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 1545200	NM_000181.4(GUSB):c.1536G>A (p.Gly512=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 1402788	NM_000181.4(GUSB):c.1485T>C (p.Tyr495=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 1027384	NM_000181.4(GUSB):c.1651C>T (p.Gln551Ter)	LOC126860055, GUSB (Q332* +3 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 7	GPathogenic
Select item 802322	NM_000181.4(GUSB):c.1506C>A (p.Asn502Lys)	GUSB, LOC126860055 (N502K +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 755584	NM_000181.4(GUSB):c.1623T>C (p.Tyr541=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 745595	NM_000181.4(GUSB):c.1653+9T>C	GUSB, LOC126860055	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 707798	NM_000181.4(GUSB):c.1482G>A (p.Pro494=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GBenign/Likely benign
Select item 528232	NM_000181.4(GUSB):c.1653+151A>G	GUSB, LOC126860055	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7 +1 more	GBenign
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 190464	NM_000181.4(GUSB):c.1586A>G (p.Tyr529Cys)	GUSB, LOC126860055 (Y529C +3 more)	Single nucleotide variant (missense variant +1 more)	Non-immune hydrops fetalis +1 more	GConflicting classifications of pathogenicity
Select item 155382	GRCh38/hg38 7q11.21(chr7:62977012-66848675)	ASL, CICP24 +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	See cases	GPathogenic
Select item 150828	GRCh38/hg38 7q11.21(chr7:65835271-66837033)x3	ASL, CRCP +35 more	Copy number gain	See cases	GLikely benign
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59682	GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3	ASL, CCT6A +229 more	Copy number gain	See cases	GPathogenic
Select item 57078	GRCh38/hg38 7q11.21-11.22(chr7:62570287-67823956)x3	ASL, CICP24 +114 more	Copy number gain	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, GALNT17 +158 more	Copy number loss	See cases	GPathogenic
Select item 901	NM_000181.4(GUSB):c.1617C>T (p.Ser539=)	GUSB, LOC126860055	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GPathogenic/Likely pathogenic
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 +1 more	GPathogenic
Select item 899	NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys)	GUSB, LOC126860055 (Y495C +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 48