ClinVar for MedGen (Select 473687) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068747	NM_020944.3(GBA2):c.1720C>T (p.Arg574Ter)	GBA2 (R574*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 46	GPathogenic
Select item 2585505	NM_020944.3(GBA2):c.2617C>T (p.Arg873Cys)	GBA2 (R873C)	Single nucleotide variant (3 prime UTR variant +1 more)	Neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 2574041	NM_020944.3(GBA2):c.715dup (p.Tyr239fs)	GBA2 (Y239fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 46 +1 more	GLikely pathogenic
Select item 2572509	NM_020944.3(GBA2):c.1602C>A (p.Tyr534Ter)	GBA2 (Y534*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 46	GPathogenic
Select item 2440428	NM_020944.3(GBA2):c.2608C>T (p.Arg870Ter)	GBA2 (R870*)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 46	GLikely pathogenic
Select item 2432076	NM_020944.3(GBA2):c.1507C>T (p.Pro503Ser)	GBA2 (P503S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46	GUncertain significance
Select item 1802259	NM_020944.3(GBA2):c.2506-2A>G	GBA2	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 46	GLikely pathogenic
Select item 999107	NM_001958.5(EEF1A2):c.305T>C (p.Met102Thr)	EEF1A2 (M102T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33 +1 more	GConflicting classifications of pathogenicity
Select item 992263	NM_020944.3(GBA2):c.451+1G>A	GBA2	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 46	GLikely pathogenic
Select item 992195	NM_020944.3(GBA2):c.1582+2T>G	GBA2	Single nucleotide variant (splice donor variant)	Spastic paraplegia +1 more	GLikely pathogenic
Select item 989142	NM_020944.3(GBA2):c.2248_2249del (p.Met750fs)	GBA2 (M750fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 46	GPathogenic
Select item 989141	NM_020944.3(GBA2):c.2166_2176del (p.Gly722_Gln723insTer)	GBA2	Deletion (frameshift variant)	Hereditary spastic paraplegia 46	GPathogenic
Select item 844142	NM_020944.3(GBA2):c.1357G>A (p.Ala453Thr)	GBA2 (A453T)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 657136	NM_020944.3(GBA2):c.266G>C (p.Cys89Ser)	GBA2 (C89S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46 +2 more	GUncertain significance
Select item 642909	NM_020944.3(GBA2):c.341A>G (p.His114Arg)	GBA2 (H114R)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 638396	NM_020944.3(GBA2):c.1285C>T (p.Arg429Trp)	GBA2 (R429W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46 +1 more	GUncertain significance
Select item 638294	NM_020944.3(GBA2):c.518G>A (p.Trp173Ter)	GBA2 (W173*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 46	GPathogenic
Select item 638293	NM_020944.3(GBA2):c.363C>A (p.Tyr121Ter)	GBA2 (Y121*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 46	GPathogenic
Select item 576676	NM_020944.3(GBA2):c.959G>A (p.Arg320Gln)	GBA2 (R320Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 527983	NM_020944.3(GBA2):c.659G>A (p.Gly220Asp)	GBA2 (G220D)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 516643	NM_020944.3(GBA2):c.1688-10_1688-9insG	GBA2	Insertion (intron variant)	Spastic paraplegia +2 more	GBenign
Select item 440972	NM_020944.3(GBA2):c.1030G>C (p.Ala344Pro)	GBA2 (A344P)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 241329	NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp)	GBA2 (R518W)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 218781	NM_020944.3(GBA2):c.134G>C (p.Cys45Ser)	GBA2 (C45S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46 +2 more	GUncertain significance
Select item 191235	NM_020944.3(GBA2):c.2548C>T (p.Arg850Cys)	GBA2 (R850C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 92166	NM_020944.3(GBA2):c.1780G>C (p.Asp594His)	GBA2 (D594H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46	GLikely pathogenic
Select item 41490	NM_020944.3(GBA2):c.2618G>A (p.Arg873His)	GBA2 (R873H)	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary spastic paraplegia 46 +1 more	GPathogenic/Likely pathogenic
Select item 41489	NM_020944.3(GBA2):c.1018C>T (p.Arg340Ter)	GBA2 (R340*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 46 +1 more	GPathogenic
Select item 41488	NM_020944.3(GBA2):c.1471_1474dup (p.Thr492fs)	GBA2 (T492fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 46	GPathogenic
Select item 41486	NM_020944.3(GBA2):c.700C>T (p.Arg234Ter)	GBA2 (R234*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 46 +1 more	GPathogenic
Select item 41485	NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp)	GBA2 (R630W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 46 +1 more	GPathogenic/Likely pathogenic

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Items: 31