"PreventionGenetics, part of Exact Sciences"[submitter] AND "GLB1"[gen - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 705887	NM_000404.4(GLB1):c.1833G>A (p.Ser611=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GLB1-related disorder +3 more	GBenign/Likely 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 92899	NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly)	GLB1 (S532G +3 more)	Single nucleotide variant (missense variant)	not provided +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)	Mucopolysaccharidosis, MPS-IV-B +6 more	GConflicting classifications of pathogenicity
Select item 3033373	NM_000404.4(GLB1):c.1584A>C (p.Gly528=)	GLB1	Single nucleotide variant (synonymous variant)	GLB1-related disorder	GLikely benign
Select item 256024	NM_000404.4(GLB1):c.1561= (p.Cys521=)	GLB1	Single nucleotide variant (no sequence alteration)	Mucopolysaccharidosis, MPS-IV-B +2 more	GBenign
Select item 92897	NM_000404.4(GLB1):c.1426C>T (p.Leu476=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +4 more	GConflicting classifications of pathogenicity
Select item 344789	NM_000404.4(GLB1):c.1347+10G>A	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +2 more	GConflicting classifications of pathogenicity
Select item 554101	NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)	GLB1 (N437S +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +6 more	GConflicting classifications of pathogenicity
Select item 92895	NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe)	GLB1 (L436F +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +7 more	GBenign/Likely 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 899440	NM_000404.4(GLB1):c.1095C>T (p.Ile365=)	GLB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 256028	NM_000404.4(GLB1):c.915G>T (p.Leu305Phe)	GLB1 (L305F +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 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 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 1105606	NM_000404.4(GLB1):c.782A>G (p.Lys261Arg)	GLB1 (K130R +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +2 more	GConflicting classifications of pathogenicity
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 256025	NM_000404.4(GLB1):c.733+42T>A	GLB1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1159142	NM_000404.4(GLB1):c.681C>T (p.Phe227=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +2 more	GLikely benign
Select item 92909	NM_000404.4(GLB1):c.458-11T>C	GLB1	Single nucleotide variant (intron variant)	GM1 gangliosidosis +3 more	GBenign
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 1975416	NM_000404.4(GLB1):c.246-16GT[2]	GLB1	Microsatellite (intron variant)	GM1 gangliosidosis +2 more	GConflicting classifications of pathogenicity
Select item 3039574	NM_000404.4(GLB1):c.76-4376G>A	GLB1	Single nucleotide variant (intron variant)	GLB1-related disorder	GLikely benign
Select item 3036381	NM_000404.4(GLB1):c.76-4414C>T	GLB1	Single nucleotide variant (synonymous variant +1 more)	GLB1-related disorder	GLikely benign
Select item 2653648	NM_000404.4(GLB1):c.76-4429G>A	GLB1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2653649	NM_000404.4(GLB1):c.76-4483G>A	GLB1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3050297	NM_000404.4(GLB1):c.76-4520G>A	GLB1 (R27Q)	Single nucleotide variant (missense variant +1 more)	GLB1-related disorder	GBenign
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 425289	NM_000404.4(GLB1):c.31C>G (p.Leu11Val)	GLB1, LOC129936434 +1 more (L11V)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis +4 more	GConflicting classifications of pathogenicity
Select item 92904	NM_000404.4(GLB1):c.29C>T (p.Pro10Leu)	GLB1, LOC129936434 +1 more (P10L)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +6 more	GBenign

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Items: 31