"Myriad Genetics, Inc."[submitter] AND "GLB1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92901	NM_000404.4(GLB1):c.1769G>A (p.Arg590His)	GLB1 (R590H +3 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis +5 more	GPathogenic/Likely pathogenic
Select item 1726335	NM_000404.4(GLB1):c.1379_1380del (p.Val460fs)	GLB1 (V329fs +3 more)	Microsatellite (frameshift variant)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 930	NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln)	GLB1 (R457Q +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis +4 more	GPathogenic/Likely pathogenic
Select item 983740	NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter)	GLB1 (G307* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 842879	NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs)	GLB1 (S302fs +3 more)	Microsatellite (frameshift variant)	GM1 gangliosidosis type 2 +4 more	GPathogenic/Likely pathogenic
Select item 1454377	NM_000404.4(GLB1):c.1142del (p.Lys381fs)	GLB1 (K351fs +3 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-B +4 more	GPathogenic/Likely pathogenic
Select item 1724830	NM_000404.4(GLB1):c.1122T>A (p.Tyr374Ter)	GLB1 (Y243* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 1726739	NM_000404.4(GLB1):c.1023_1024del (p.Asp342fs)	GLB1 (D211fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 983741	NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter)	GLB1 (Y175* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 1724395	NM_000404.4(GLB1):c.835del (p.Gln279fs)	GLB1 (Q148fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 983742	NM_000404.4(GLB1):c.819G>A (p.Trp273Ter)	GLB1 (W142* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis type 3 +4 more	GPathogenic/Likely pathogenic
Select item 983743	NM_000404.4(GLB1):c.775G>T (p.Glu259Ter)	GLB1 (E128* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 1725318	NM_000404.4(GLB1):c.500_501del (p.Pro167fs)	GLB1 (P137fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 1725613	NM_000404.4(GLB1):c.487_488del (p.Gly163fs)	GLB1 (G133fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 1725712	NM_000404.4(GLB1):c.230_231del (p.Leu77fs)	GLB1 (L125fs +2 more)	Deletion (frameshift variant)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic