"GeneDx"[submitter] AND "GLB1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57769	GRCh38/hg38 3p22.3-22.2(chr3:32322382-36775606)x1	ARPP21, ARPP21-AS1 +87 more	Copy number loss	See cases	GPathogenic
Select item 550693	NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter)	GLB1 (K668* +3 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-IV-B +5 more	GUncertain significance
Select item 1309040	NM_000404.4(GLB1):c.1915G>A (p.Val639Met)	GLB1 (V508M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 92902	NM_000404.4(GLB1):c.1824G>C (p.Leu608=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +4 more	GBenign
Select item 557709	NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)	GLB1 (W582* +3 more)	Single nucleotide variant (nonsense +1 more)	GM1 gangliosidosis type 2 +5 more	GPathogenic/Likely pathogenic
Select item 1230485	NM_000404.4(GLB1):c.1734+233C>T	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291220	NM_000404.4(GLB1):c.1734+188C>T	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185796	NM_000404.4(GLB1):c.1734+169G>A	GLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 393276	NM_000404.4(GLB1):c.1696C>T (p.Pro566Ser)	GLB1 (P566S +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 426185	NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu)	GLB1 (P549L +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 92899	NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly)	GLB1 (S532G +3 more)	Single nucleotide variant (missense variant)	GLB1-related condition +5 more	GBenign/Likely benign
Select item 450616	NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys)	GLB1 (R530C +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +6 more	GConflicting classifications of pathogenicity
Select item 202191	NM_000404.4(GLB1):c.1577dup (p.Trp527fs)	GLB1 (W527fs +3 more)	Duplication (frameshift variant)	GM1 gangliosidosis +5 more	GPathogenic
Select item 167145	NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg)	GLB1 (C521R +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +6 more	GBenign
Select item 946	NM_000404.4(GLB1):c.1480-2A>G	GLB1	Single nucleotide variant (splice acceptor variant)	GM1 gangliosidosis +5 more	GPathogenic
Select item 1238885	NM_000404.4(GLB1):c.1480-74C>G	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248379	NM_000404.4(GLB1):c.1480-149T>C	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221492	NM_000404.4(GLB1):c.1480-272T>C	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216917	NM_000404.4(GLB1):c.1480-295A>G	GLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222508	NM_000404.4(GLB1):c.1480-320C>A	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246205	NM_000404.4(GLB1):c.1479+204A>G	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 835718	NM_000404.4(GLB1):c.1468_1470del (p.Asn490del)	GLB1 (N460del +3 more)	Deletion (inframe_deletion)	GM1 gangliosidosis +2 more	GLikely pathogenic
Select item 932	NM_000404.4(GLB1):c.1445G>A (p.Arg482His)	GLB1 (R482H +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +5 more	GPathogenic
Select item 553636	NM_000404.4(GLB1):c.1438A>G (p.Met480Val)	GLB1 (M480V +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1231097	NM_000404.4(GLB1):c.1347+208A>G	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245393	NM_000404.4(GLB1):c.1347+194G>T	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 528328	NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)	GLB1 (R442Q +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +5 more	GPathogenic/Likely pathogenic
Select item 940	NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu)	GLB1 (G438E +3 more)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia +6 more	GPathogenic
Select item 92895	NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)	GLB1 (L436F +3 more)	Single nucleotide variant (missense variant)	GLB1-related condition +7 more	GBenign/Likely benign
Select item 1314582	NM_000404.4(GLB1):c.1283A>G (p.Asn428Ser)	GLB1 (N297S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973576	NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp)	GLB1 (R389W +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +2 more	GPathogenic/Likely pathogenic
Select item 1244312	NM_000404.4(GLB1):c.1234-177C>T	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220424	NM_000404.4(GLB1):c.1234-307G>A	GLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298258	NM_000404.4(GLB1):c.1233+218C>T	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280342	NM_000404.4(GLB1):c.1233+174G>T	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198799	NM_000404.4(GLB1):c.1233+36A>G	GLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 92894	NM_000404.4(GLB1):c.1233+8T>C	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +4 more	GBenign/Likely benign
Select item 1290141	NM_000404.4(GLB1):c.1144-256C>G	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199012	NM_000404.4(GLB1):c.1143+47G>A	GLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 558920	NM_000404.4(GLB1):c.1143+28G>C	GLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234200	NM_000404.4(GLB1):c.1069-231G>A	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188742	NM_000404.4(GLB1):c.1068+291A>C	GLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246406	NM_000404.4(GLB1):c.1068+264G>A	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231794	NM_000404.4(GLB1):c.1068+217G>T	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 941	NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter)	GLB1 (R351* +3 more)	Single nucleotide variant (nonsense)	Spastic ataxia +6 more	GPathogenic
Select item 1071414	NM_000404.4(GLB1):c.994G>A (p.Asp332Asn)	GLB1 (D201N +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +2 more	GPathogenic
Select item 1277988	NM_000404.4(GLB1):c.956-118G>C	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276962	NM_000404.4(GLB1):c.956-190C>G	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186798	NM_000404.4(GLB1):c.955+300G>A	GLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207803	NM_000404.4(GLB1):c.955+206A>G	GLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272712	NM_000404.4(GLB1):c.955+139dup	GLB1	Duplication (intron variant)	not provided	GBenign
Select item 1231412	NM_000404.4(GLB1):c.955+154del	GLB1	Deletion (intron variant)	not provided	GBenign
Select item 1242432	NM_000404.4(GLB1):c.955+144T>C	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1699664	NM_000404.4(GLB1):c.955+142_955+143insTTTTCT	GLB1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1177895	NM_000404.4(GLB1):c.955+142_955+143insTTTTCTTTT	GLB1	Microsatellite (intron variant)	not provided	GBenign
Select item 1251633	NM_000404.4(GLB1):c.955+123dup	GLB1	Duplication (intron variant)	not provided	GBenign
Select item 1283994	NM_000404.4(GLB1):c.955+93del	GLB1	Deletion (intron variant)	not provided	GBenign
Select item 678119	NM_000404.4(GLB1):c.955+60A>G	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +2 more	GBenign
Select item 420844	NM_000404.4(GLB1):c.902_914+17delinsAGGCAAGTATATACTTGCC	GLB1	Indel (splice donor variant)	not provided	GLikely pathogenic
Select item 381567	NM_000404.4(GLB1):c.902C>T (p.Ala301Val)	GLB1 (A301V +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +3 more	GPathogenic
Select item 817580	NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer)	GLB1	Deletion (nonsense)	not provided +2 more	GPathogenic
Select item 256027	NM_000404.4(GLB1):c.858C>T (p.Thr286=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +5 more	GLikely benign
Select item 372371	NM_000404.4(GLB1):c.841C>T (p.His281Tyr)	GLB1 (H281Y +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +2 more	GPathogenic
Select item 2662239	NM_000404.4(GLB1):c.825T>A (p.Asp275Glu)	GLB1 (D144E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284172	NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)	GLB1 (Y270D +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 1216855	NM_000404.4(GLB1):c.793-69T>C	GLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678118	NM_000404.4(GLB1):c.793-132T>G	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231856	NM_000404.4(GLB1):c.793-185C>G	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199113	NM_000404.4(GLB1):c.793-246A>G	GLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263301	NM_000404.4(GLB1):c.792+250G>C	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282223	NM_000404.4(GLB1):c.792+231G>A	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189208	NM_000404.4(GLB1):c.792+187C>G	GLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 92914	NM_000404.4(GLB1):c.792+10G>T	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +4 more	GBenign/Likely benign
Select item 256026	NM_000404.4(GLB1):c.756C>T (p.Phe252=)	GLB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1174054	NM_000404.4(GLB1):c.734-80G>A	GLB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1174055	NM_000404.4(GLB1):c.734-99G>T	GLB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1174056	NM_000404.4(GLB1):c.734-112T>C	GLB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1193900	NM_000404.4(GLB1):c.734-116del	GLB1	Deletion (intron variant)	not provided	GLikely benign
Select item 1174057	NM_000404.4(GLB1):c.733+78A>G	GLB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 553125	NM_000404.4(GLB1):c.733+1G>A	GLB1	Single nucleotide variant (splice donor variant +1 more)	GM1 gangliosidosis type 2 +5 more	GPathogenic/Likely pathogenic
Select item 807421	NM_000404.4(GLB1):c.716C>T (p.Thr239Met)	GLB1 (T239M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 939	NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)	GLB1 (R208C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic
Select item 198077	NM_000404.4(GLB1):c.602G>A (p.Arg201His)	GLB1 (R201H +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +5 more	GPathogenic
Select item 925	NM_000404.4(GLB1):c.601C>T (p.Arg201Cys)	GLB1 (R201C +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +4 more	GPathogenic/Likely pathogenic
Select item 677897	NM_000404.4(GLB1):c.553-119A>G	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 496829	NM_000404.4(GLB1):c.552+21G>A	GLB1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 92910	NM_000404.4(GLB1):c.481T>G (p.Trp161Gly)	GLB1 (W161G +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +5 more	GConflicting classifications of pathogenicity
Select item 265179	NM_000404.4(GLB1):c.464T>G (p.Leu155Arg)	GLB1 (L155R +2 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +5 more	GPathogenic
Select item 92909	NM_000404.4(GLB1):c.458-11T>C	GLB1	Single nucleotide variant (intron variant)	GM1 gangliosidosis +3 more	GBenign
Select item 1279985	NM_000404.4(GLB1):c.457+283T>C	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678493	NM_000404.4(GLB1):c.457+235A>G	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286465	NM_000404.4(GLB1):c.457+154C>T	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204645	NM_000404.4(GLB1):c.457+53C>A	GLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 551757	NM_000404.4(GLB1):c.442C>A (p.Arg148Ser)	GLB1 (R148S +2 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +6 more	GPathogenic/Likely pathogenic
Select item 92906	NM_000404.4(GLB1):c.397-1G>A	GLB1	Single nucleotide variant (intron variant +1 more)	GM1 gangliosidosis type 2 +5 more	GPathogenic/Likely pathogenic
Select item 678066	NM_000404.4(GLB1):c.396+122C>A	GLB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212122	NM_000404.4(GLB1):c.396+61G>A	GLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 372370	NM_000404.4(GLB1):c.396+2T>C	GLB1	Single nucleotide variant (splice donor variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +2 more	GPathogenic/Likely pathogenic
Select item 928	NM_000404.4(GLB1):c.367G>A (p.Gly123Arg)	GLB1 (G123R +2 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +2 more	GPathogenic
Select item 129154	NM_000404.4(GLB1):c.325C>T (p.Arg109Trp)	GLB1 (R109W +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +3 more	GBenign/Likely benign

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