ClinVar for MedGen (Select 815995) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1699069	NM_004181.5(UCHL1):c.250C>T (p.Gln84Ter)	UCHL1 (Q84*)	Single nucleotide variant (nonsense)	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	GLikely pathogenic
Select item 1621183	NM_004181.5(UCHL1):c.175-4G>A	UCHL1	Single nucleotide variant (intron variant)	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome +2 more	GLikely benign
Select item 1209897	NM_004181.5(UCHL1):c.326-4dup	UCHL1	Duplication (intron variant)	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome +1 more	GBenign
Select item 901642	NM_004181.5(UCHL1):c.*250T>C	UCHL1	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 5, autosomal dominant, susceptibility to +1 more	GUncertain significance
Select item 522605	NM_004181.5(UCHL1):c.459+2T>C	UCHL1	Single nucleotide variant (splice donor variant)	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	GLikely pathogenic
Select item 411682	NM_003119.4(SPG7):c.376+1G>T	SPG7	Single nucleotide variant (splice donor variant)	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome +2 more	GPathogenic/Likely pathogenic
Select item 375650	NM_004181.5(UCHL1):c.647C>A (p.Ala216Asp)	UCHL1 (A216D)	Single nucleotide variant (missense variant)	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	GPathogenic
Select item 375649	NM_004181.5(UCHL1):c.533G>A (p.Arg178Gln)	UCHL1 (R178Q)	Single nucleotide variant (missense variant)	Parkinson disease 5, autosomal dominant, susceptibility to	GUncertain significance
Select item 348775	NM_004181.5(UCHL1):c.609A>G (p.Glu203=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 348771	NM_004181.5(UCHL1):c.326-4del	UCHL1	Deletion (intron variant)	Parkinson Disease, Dominant +3 more	GBenign/Likely benign
Select item 88635	NM_004181.5(UCHL1):c.20A>C (p.Glu7Ala)	UCHL1 (E7A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 12298	NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr)	UCHL1 (S18Y)	Single nucleotide variant (missense variant)	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome +2 more	GBenign