"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GLB1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +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 1075413	NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter)	GLB1 (Q436* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 558919	NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp)	GLB1 (G526D +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +3 more	GBenign/Likely benign
Select item 242561	NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)	GLB1 (P429S +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +5 more	GConflicting classifications of pathogenicity
Select item 92894	NM_000404.4(GLB1):c.1233+8T>C	GLB1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 2051796	NM_000404.4(GLB1):c.1228A>C (p.Lys410Gln)	GLB1 (K410Q +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 558920	NM_000404.4(GLB1):c.1143+28G>C	GLB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3379448	NM_000404.4(GLB1):c.1135T>G (p.Leu379Val)	GLB1 (L248V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693865	NM_000404.4(GLB1):c.944C>A (p.Ala315Asp)	GLB1 (A184D +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +3 more	GUncertain significance
Select item 558921	NM_000404.4(GLB1):c.793-19C>T	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GBenign
Select item 92914	NM_000404.4(GLB1):c.792+10G>T	GLB1	Single nucleotide variant (intron variant)	Infantile GM1 gangliosidosis +4 more	GBenign/Likely benign
Select item 562201	NM_000404.4(GLB1):c.623G>A (p.Arg208His)	GLB1 (R208H +2 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +2 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)	Mucopolysaccharidosis, MPS-IV-B +4 more	GBenign
Select item 1693866	NM_000404.4(GLB1):c.377T>C (p.Ile126Thr)	GLB1 (I126T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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
Select item 92900	NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter)	GLB1 (Y57* +2 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-B +5 more	GPathogenic/Likely pathogenic
Select item 1109494	NM_000404.4(GLB1):c.61A>G (p.Thr21Ala)	GLB1, LOC129936434 +1 more (T21A)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +3 more	GConflicting classifications of pathogenicity
Select item 1496444	NM_000404.4(GLB1):c.40G>C (p.Val14Leu)	GLB1, LOC129936434 +1 more (V14L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +2 more	GUncertain significance
Select item 92905	NM_000404.4(GLB1):c.34T>C (p.Leu12=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign
Select item 92904	NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)	GLB1, LOC129936434 +1 more (P10L)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis +6 more	GBenign

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Items: 22