"Foundation for Research in Genetics and Endocrinology, FRIGE's Instit - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194596	NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys)	GLB1 (R590C +3 more)	Single nucleotide variant (missense variant +1 more)	GLB1-related disorder +4 more	GPathogenic
Select item 1810758	NM_000404.4(GLB1):c.1122T>G (p.Tyr374Ter)	GLB1 (Y374* +3 more)	Single nucleotide variant (nonsense)	Infantile GM1 gangliosidosis	GPathogenic
Select item 167146	NM_000404.4(GLB1):c.1077del (p.Val360fs)	GLB1 (V330fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis +3 more	GPathogenic
Select item 1251981	NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro)	GLB1 (L206P +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis +2 more	GPathogenic/Likely pathogenic
Select item 1710133	NM_000404.4(GLB1):c.569G>T (p.Gly190Val)	GLB1 (G160V +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 2507026	NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)	GLB1 (E158* +2 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-IV-B +2 more	GPathogenic
Select item 689485	NM_000404.4(GLB1):c.545C>G (p.Thr182Arg)	GLB1 (N111K +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis	GUncertain significance
Select item 684406	NM_000404.4(GLB1):c.495_497del (p.Leu166del)	GLB1 (L136del +3 more)	Deletion (inframe_deletion)	GM1 gangliosidosis +2 more	GConflicting classifications of pathogenicity
Select item 92907	NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)	GLB1 (R148C +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis type 2 +5 more	GPathogenic/Likely pathogenic
Select item 818226	NM_000404.4(GLB1):c.407C>T (p.Pro136Leu)	GLB1 (P184L +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 800730	NM_000404.4(GLB1):c.385G>C (p.Glu129Gln)	GLB1 (E129Q +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 264673	NM_000404.4(GLB1):c.276G>A (p.Trp92Ter)	GLB1 (W92* +2 more)	Single nucleotide variant (nonsense +1 more)	GM1 gangliosidosis +5 more	GPathogenic
Select item 684412	NM_000404.4(GLB1):c.253C>A (p.Pro85Thr)	GLB1 (P55T +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis type 2	GUncertain significance
Select item 923	NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)	GLB1 (R49C +2 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 3 +5 more	GConflicting classifications of pathogenicity
Select item 1878428	NM_001039770.3(TMPPE):c.-398_-397del	GLB1, LOC129936434 +1 more	Deletion (5 prime UTR variant +1 more)	Infantile GM1 gangliosidosis	GUncertain significance
Select item 555329	NM_000404.4(GLB1):c.65_75+1del	TMPPE, LOC129936434 +1 more	Deletion (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +5 more	GPathogenic/Likely pathogenic
Select item 1895462	NM_000404.4(GLB1):c.3G>A (p.Met1Ile)	GLB1, LOC129936434 +1 more (M1I)	Single nucleotide variant (missense variant +2 more)	Infantile GM1 gangliosidosis	GLikely pathogenic