GLB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	ANKRD28, ARL8B +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	ACAA1, ACVR2B +730 more	Copy number gain	See cases	GPathogenic
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 344776	NM_000404.4(GLB1):c.*423A>G	GLB1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 344777	NM_000404.4(GLB1):c.*376C>G	GLB1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 344778	NM_000404.4(GLB1):c.*354T>C	GLB1	Single nucleotide variant (3 prime UTR variant +1 more)	GM1 gangliosidosis +1 more	GBenign
Select item 344779	NM_000404.4(GLB1):c.*319G>A	GLB1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900465	NM_000404.4(GLB1):c.*224G>T	GLB1	Single nucleotide variant (3 prime UTR variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 344780	NM_000404.4(GLB1):c.*194C>A	GLB1	Single nucleotide variant (3 prime UTR variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 344781	NM_000404.4(GLB1):c.*184G>A	GLB1	Single nucleotide variant (3 prime UTR variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 344782	NM_000404.4(GLB1):c.*182A>G	GLB1	Single nucleotide variant (3 prime UTR variant +1 more)	GM1 gangliosidosis +1 more	GBenign
Select item 902132	NM_000404.4(GLB1):c.*44C>T	GLB1	Single nucleotide variant (3 prime UTR variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 903011	NM_000404.4(GLB1):c.*39C>T	GLB1	Single nucleotide variant (3 prime UTR variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 557535	NM_000404.4(GLB1):c.2034A>C (p.Ter678Cys)	GLB1	Single nucleotide variant (stop lost +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 558705	NM_000404.4(GLB1):c.2032T>C (p.Ter678Arg)	GLB1	Single nucleotide variant (intron variant +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 1077701	NM_000404.4(GLB1):c.2031A>G (p.Val677=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 968996	NM_000404.4(GLB1):c.2030T>G (p.Val677Gly)	GLB1 (V546G +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 1135872	NM_000404.4(GLB1):c.2028T>C (p.His676=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2923580	NM_000404.4(GLB1):c.2022G>A (p.Leu674=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2941454	NM_000404.4(GLB1):c.2016A>T (p.Ser672=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 733159	NM_000404.4(GLB1):c.2016A>G (p.Ser672=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +5 more	GConflicting classifications of pathogenicity
Select item 2188026	NM_000404.4(GLB1):c.2012A>G (p.Asp671Gly)	GLB1 (D671G +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 1699503	NM_000404.4(GLB1):c.2010dup (p.Asp671fs)	GLB1 (D540fs +3 more)	Duplication (frameshift variant +1 more)	Infantile GM1 gangliosidosis	GUncertain significance
Select item 557185	NM_000404.4(GLB1):c.2011del (p.Asp671fs)	GLB1 (D641fs +3 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 1961404	NM_000404.4(GLB1):c.2009_2010del (p.Lys670fs)	GLB1 (K539fs +3 more)	Deletion (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +2 more	GConflicting classifications of pathogenicity
Select item 551178	NM_000404.4(GLB1):c.2007_2010del (p.Asn669fs)	GLB1 (N538fs +3 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 1354608	NM_000404.4(GLB1):c.2009A>G (p.Lys670Arg)	GLB1 (K670R +3 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 1365634	NM_000404.4(GLB1):c.2008A>G (p.Lys670Glu)	GLB1 (K539E +3 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 1127239	NM_000404.4(GLB1):c.2007C>T (p.Asn669=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1067823	NM_000404.4(GLB1):c.2006dup (p.Asn669fs)	GLB1 (N538fs +3 more)	Duplication (frameshift variant)	GM1 gangliosidosis +1 more	GPathogenic
Select item 1473458	NM_000404.4(GLB1):c.2006del (p.Asn669fs)	GLB1 (N639fs +3 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
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 708999	NM_000404.4(GLB1):c.1998G>A (p.Pro666=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1347335	NM_000404.4(GLB1):c.1997C>T (p.Pro666Leu)	GLB1 (P535L +3 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 1604484	NM_000404.4(GLB1):c.1995C>G (p.Pro665=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 1162004	NM_000404.4(GLB1):c.1995C>T (p.Pro665=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2096335	NM_000404.4(GLB1):c.1992A>C (p.Pro664=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 759076	NM_000404.4(GLB1):c.1992A>G (p.Pro664=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 551038	NM_000404.4(GLB1):c.1991del (p.Pro664fs)	GLB1 (P664fs +3 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 2069213	NM_000404.4(GLB1):c.1990C>T (p.Pro664Ser)	GLB1 (P634S +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 1136136	NM_000404.4(GLB1):c.1989C>T (p.Pro663=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1096185	NM_000404.4(GLB1):c.1983C>T (p.Leu661=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +2 more	GLikely benign
Select item 1982914	NM_000404.4(GLB1):c.1981C>T (p.Leu661Phe)	GLB1 (L661F +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 1091463	NM_000404.4(GLB1):c.1980A>G (p.Arg660=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 1957630	NM_000404.4(GLB1):c.1979G>A (p.Arg660Lys)	GLB1 (R708K +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 555675	NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter)	GLB1 (R660* +3 more)	Single nucleotide variant (nonsense +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 2161080	NM_000404.4(GLB1):c.1969G>A (p.Val657Ile)	GLB1 (V526I +3 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 1566048	NM_000404.4(GLB1):c.1959C>T (p.Pro653=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 1973950	NM_000404.4(GLB1):c.1951G>A (p.Asp651Asn)	GLB1 (D520N +3 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 1157465	NM_000404.4(GLB1):c.1950C>T (p.Tyr650=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2051810	NM_000404.4(GLB1):c.1947C>T (p.Thr649=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 706556	NM_000404.4(GLB1):c.1938A>G (p.Ser646=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 1549913	NM_000404.4(GLB1):c.1935C>A (p.Gly645=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2481567	NM_000404.4(GLB1):c.1931T>C (p.Ile644Thr)	GLB1 (I614T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 92903	NM_000404.4(GLB1):c.1918G>T (p.Asp640Tyr)	GLB1 (D640Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2145474	NM_000404.4(GLB1):c.1917G>C (p.Val639=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
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 1116502	NM_000404.4(GLB1):c.1914C>T (p.Phe638=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2952169	NM_000404.4(GLB1):c.1911G>T (p.Thr637=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1102658	NM_000404.4(GLB1):c.1911G>A (p.Thr637=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1512979	NM_000404.4(GLB1):c.1910C>T (p.Thr637Met)	GLB1 (T637M +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 2185969	NM_000404.4(GLB1):c.1905T>C (p.Ala635=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1974200	NM_000404.4(GLB1):c.1903G>T (p.Ala635Ser)	GLB1 (A504S +3 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 487803	NM_000404.4(GLB1):c.1903G>C (p.Ala635Pro)	GLB1 (A635P +3 more)	Single nucleotide variant (missense variant +1 more)	Ependymoma	GUncertain significance
Select item 2921979	NM_000404.4(GLB1):c.1899A>T (p.Leu633=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2153167	NM_000404.4(GLB1):c.1899A>G (p.Leu633=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2063069	NM_000404.4(GLB1):c.1897C>G (p.Leu633Val)	GLB1 (L633V +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 1122370	NM_000404.4(GLB1):c.1896A>G (p.Glu632=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2509861	NM_000404.4(GLB1):c.1879A>C (p.Ser627Arg)	GLB1 (S597R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1414271	NM_000404.4(GLB1):c.1873C>T (p.Pro625Ser)	GLB1 (P625S +3 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 767268	NM_000404.4(GLB1):c.1861C>T (p.Leu621=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2940463	NM_000404.4(GLB1):c.1855C>T (p.Leu619=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2097996	NM_000404.4(GLB1):c.1855C>A (p.Leu619Met)	GLB1 (L619M +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 2022065	NM_000404.4(GLB1):c.1854G>C (p.Val618=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2019856	NM_000404.4(GLB1):c.1854G>A (p.Val618=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1038644	NM_000404.4(GLB1):c.1852G>A (p.Val618Met)	GLB1 (V618M +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 1155734	NM_000404.4(GLB1):c.1851C>T (p.Thr617=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2941912	NM_000404.4(GLB1):c.1842C>T (p.Asn614=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 917629	NM_000404.4(GLB1):c.1837_1838del (p.Pro613fs)	GLB1 (P583fs +3 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis	GLikely pathogenic
Select item 1083702	NM_000404.4(GLB1):c.1833G>C (p.Ser611=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 705887	NM_000404.4(GLB1):c.1833G>A (p.Ser611=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GLB1-related condition +3 more	GBenign/Likely benign
Select item 724940	NM_000404.4(GLB1):c.1830C>G (p.Thr610=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
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 1553017	NM_000404.4(GLB1):c.1821C>A (p.Ile607=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1099083	NM_000404.4(GLB1):c.1815G>A (p.Gln605=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2940077	NM_000404.4(GLB1):c.1812C>T (p.Pro604=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1146315	NM_000404.4(GLB1):c.1812C>G (p.Pro604=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 1093710	NM_000404.4(GLB1):c.1803G>A (p.Leu601=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2953343	NM_000404.4(GLB1):c.1801T>C (p.Leu601=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1548025	NM_000404.4(GLB1):c.1794G>A (p.Gln598=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 863780	NM_000404.4(GLB1):c.1787G>A (p.Gly596Asp)	GLB1 (G566D +3 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 1666810	NM_000404.4(GLB1):c.1785G>A (p.Arg595=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 1210419	NM_000404.4(GLB1):c.1784G>A (p.Arg595Gln)	GLB1 (R464Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 932727	NM_000404.4(GLB1):c.1784G>C (p.Arg595Pro)	GLB1 (R464P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 550288	NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp)	GLB1 (R595W +3 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis type 2 +7 more	GUncertain significance
Select item 1472090	NM_000404.4(GLB1):c.1772A>C (p.Tyr591Ser)	GLB1 (Y591S +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely pathogenic
Select item 948	NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)	GLB1 (Y591C +3 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis +4 more	GConflicting classifications of pathogenicity
Select item 2151971	NM_000404.4(GLB1):c.1771T>C (p.Tyr591His)	GLB1 (Y460H +3 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely pathogenic
Select item 947	NM_000404.4(GLB1):c.1771T>A (p.Tyr591Asn)	GLB1 (Y591N +3 more)	Single nucleotide variant (missense variant +1 more)	GM1-gangliosidosis, type I, with cardiac involvement	GPathogenic

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