ClinVar for Gene (Select 2990) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3103346	NM_000181.4(GUSB):c.464A>C (p.Asn155Thr)	GUSB (N155T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3103345	NM_000181.4(GUSB):c.277C>T (p.Arg93Trp)	GUSB (R93W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3103344	NM_000181.4(GUSB):c.124G>T (p.Asp42Tyr)	GUSB (D42Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3067478	NM_000181.4(GUSB):c.1149C>A (p.Thr383=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3065727	NM_000181.4(GUSB):c.1771G>A (p.Asp591Asn)	GUSB (D372N +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GUncertain significance
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 3064887	NM_000181.4(GUSB):c.189G>C (p.Trp63Cys)	GUSB (W63C)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 7	GLikely pathogenic
Select item 3062298	NM_000181.4(GUSB):c.1070G>T (p.Arg357Leu)	GUSB (R138L +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 7	GLikely pathogenic
Select item 3062297	NM_000181.4(GUSB):c.1800_1801del (p.Arg600fs)	GUSB (R381fs +3 more)	Microsatellite (frameshift variant +1 more)	Mucopolysaccharidosis type 7	GLikely pathogenic
Select item 3042467	NM_000181.4(GUSB):c.913-4A>G	GUSB	Single nucleotide variant (intron variant)	GUSB-related condition	GLikely benign
Select item 3023234	NM_000181.4(GUSB):c.501A>C (p.Arg167=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 3020434	NM_000181.4(GUSB):c.18G>A (p.Ala6=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 3016488	NM_000181.4(GUSB):c.1244+20C>G	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 3015556	NM_000181.4(GUSB):c.1323C>T (p.Pro441=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 3014579	NM_000181.4(GUSB):c.1182G>A (p.Gln394=)	GUSB	Single nucleotide variant (non-coding transcript variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 3014195	NM_000181.4(GUSB):c.1230G>C (p.Val410=)	GUSB	Single nucleotide variant (non-coding transcript variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 3013779	NM_000181.4(GUSB):c.883G>A (p.Glu295Lys)	GUSB (E105K +2 more)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 3007962	NM_000181.4(GUSB):c.120G>A (p.Glu40=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 3007471	NM_000181.4(GUSB):c.177C>T (p.Phe59=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 3003901	NM_000181.4(GUSB):c.1476+18C>T	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2995084	NM_000181.4(GUSB):c.1911C>T (p.His637=)	GUSB	Single nucleotide variant (non-coding transcript variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2991190	NM_000181.4(GUSB):c.1391+11C>T	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2991178	NM_000181.4(GUSB):c.1083C>T (p.Phe361=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2991027	NM_000181.4(GUSB):c.621C>T (p.Asp207=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
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 2985568	NM_000181.4(GUSB):c.66G>A (p.Gly22=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	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 2969148	NM_000181.4(GUSB):c.913-17T>C	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2968443	NM_000181.4(GUSB):c.1143C>T (p.Phe381=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2965884	NM_000181.4(GUSB):c.396+14G>A	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2963670	NM_000181.4(GUSB):c.792T>C (p.Asp264=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2962907	NM_000181.4(GUSB):c.1798dup (p.Arg600fs)	GUSB (R381fs +3 more)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis type 7	GPathogenic
Select item 2958631	NM_000181.4(GUSB):c.1790-20T>A	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2958066	NM_000181.4(GUSB):c.1476+16C>T	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2955844	NM_000181.4(GUSB):c.210+20C>T	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2920226	NM_000181.4(GUSB):c.937C>T (p.Leu313=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2919808	NM_000181.4(GUSB):c.1066-11C>T	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2918982	NM_000181.4(GUSB):c.18G>C (p.Ala6=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2918561	NM_000181.4(GUSB):c.462C>T (p.Ser154=)	GUSB	Single nucleotide variant (synonymous variant +2 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 2916056	NM_000181.4(GUSB):c.1431G>A (p.Arg477=)	GUSB	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2915826	NM_000181.4(GUSB):c.192C>T (p.Tyr64=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7 +1 more	GLikely benign
Select item 2912158	NM_000181.4(GUSB):c.582-20C>G	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2906868	NM_000181.4(GUSB):c.708C>T (p.Ser236=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2905673	NM_000181.4(GUSB):c.725-12T>C	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2904924	NM_000181.4(GUSB):c.1782T>G (p.Thr594=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2903068	NM_000181.4(GUSB):c.1756dup (p.Ile586fs)	GUSB (I440fs +3 more)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis type 7	GPathogenic
Select item 2901907	NM_000181.4(GUSB):c.1245-14C>T	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2900981	NM_000181.4(GUSB):c.499C>T (p.Arg167Ter)	GUSB (R167*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis type 7	GPathogenic
Select item 2898865	NM_000181.4(GUSB):c.1476+10G>A	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2898024	NM_000181.4(GUSB):c.1804C>T (p.Leu602=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2894286	NM_000181.4(GUSB):c.725-7C>G	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2893579	NM_000181.4(GUSB):c.453C>T (p.Ala151=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2892792	NM_000181.4(GUSB):c.1782T>C (p.Thr594=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2891880	NM_000181.4(GUSB):c.434del (p.Gly145fs)	GUSB (G145fs)	Deletion (frameshift variant +2 more)	Mucopolysaccharidosis type 7	GPathogenic
Select item 2888163	NM_000181.4(GUSB):c.581+17C>T	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2885320	NM_000181.4(GUSB):c.484C>T (p.Leu162=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2885242	NM_000181.4(GUSB):c.1245-11C>T	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2879743	NM_000181.4(GUSB):c.1096C>T (p.Leu366=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2878539	NM_000181.4(GUSB):c.180G>A (p.Glu60=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2875241	NM_000181.4(GUSB):c.581+9C>T	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GUncertain significance
Select item 2874877	NM_000181.4(GUSB):c.211-20C>T	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2874841	NM_000181.4(GUSB):c.762C>T (p.Asn254=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2874761	NM_000181.4(GUSB):c.907T>C (p.Leu303=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2873611	NM_000181.4(GUSB):c.1654-11T>C	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2871941	NM_000181.4(GUSB):c.9G>T (p.Arg3=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2871793	NM_000181.4(GUSB):c.658C>T (p.Leu220=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2871184	NM_000181.4(GUSB):c.666G>T (p.Thr222=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2869810	NM_000181.4(GUSB):c.963A>T (p.Thr321=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2869792	NM_000181.4(GUSB):c.527_530del (p.Leu176fs)	GUSB (L176fs)	Deletion (non-coding transcript variant +2 more)	Mucopolysaccharidosis type 7	GPathogenic
Select item 2869683	NM_000181.4(GUSB):c.15G>A (p.Ser5=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2867424	NM_000181.4(GUSB):c.1872_1875del (p.Glu624fs)	GUSB (E405fs +3 more)	Microsatellite (frameshift variant +1 more)	Mucopolysaccharidosis type 7	GPathogenic
Select item 2865523	NM_000181.4(GUSB):c.1654-1G>A	GUSB	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis type 7	GLikely pathogenic
Select item 2864947	NM_000181.4(GUSB):c.615T>C (p.Tyr205=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2864671	NM_000181.4(GUSB):c.1026T>G (p.Pro342=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2863962	NM_000181.4(GUSB):c.486G>A (p.Leu162=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2863960	NM_000181.4(GUSB):c.1392-14C>T	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2863642	NM_000181.4(GUSB):c.507dup (p.Ile170fs)	GUSB (I170fs)	Duplication (non-coding transcript variant +2 more)	Mucopolysaccharidosis type 7	GPathogenic
Select item 2862289	NM_000181.4(GUSB):c.87C>T (p.Tyr29=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2861604	NM_000181.4(GUSB):c.240C>T (p.Pro80=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2859669	NM_000181.4(GUSB):c.906A>G (p.Ser302=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2858183	NM_000181.4(GUSB):c.397-10G>A	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2857876	NM_000181.4(GUSB):c.1854A>G (p.Ala618=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2856639	NM_000181.4(GUSB):c.90C>T (p.Pro30=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2854158	NM_000181.4(GUSB):c.725-4G>A	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2853461	NM_000181.4(GUSB):c.342C>T (p.Asp114=)	GUSB (P5S)	Single nucleotide variant (synonymous variant +3 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2852702	NM_000181.4(GUSB):c.325G>T (p.Glu109Ter)	GUSB (E109*)	Single nucleotide variant (nonsense +2 more)	Mucopolysaccharidosis type 7	GPathogenic
Select item 2852228	NM_000181.4(GUSB):c.1654-12C>T	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2850169	NM_000181.4(GUSB):c.1476+20C>T	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2848968	NM_000181.4(GUSB):c.725-14C>A	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2848321	NM_000181.4(GUSB):c.129C>A (p.Gly43=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2848171	NM_000181.4(GUSB):c.396+15G>C	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2848108	NC_000007.14:g.65974442del	GUSB	Deletion	Mucopolysaccharidosis type 7	GPathogenic
Select item 2847045	NM_000181.4(GUSB):c.1865T>A (p.Leu622Ter)	GUSB (L476* +3 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 7	GPathogenic
Select item 2846837	NM_000181.4(GUSB):c.1391+13T>G	GUSB	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2846795	NM_000181.4(GUSB):c.639A>G (p.Gly213=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2846791	NM_000181.4(GUSB):c.24C>T (p.Ala8=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2846524	NM_000181.4(GUSB):c.813G>T (p.Ala271=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2843841	NM_000181.4(GUSB):c.1704G>A (p.Gln568=)	GUSB	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis type 7	GLikely benign
Select item 2842840	NM_000181.4(GUSB):c.555C>G (p.Thr185=)	GUSB	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 7	GLikely benign

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