"GeneDx"[submitter] AND "UCHL1"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1260738	NC_000004.12:g.41256670A>G	UCHL1-DT, UCHL1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1246763	NC_000004.12:g.41256671A>G	UCHL1, UCHL1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1290707	NC_000004.12:g.41256695G>C	UCHL1, UCHL1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1283154	NC_000004.12:g.41256745G>A	UCHL1	Single nucleotide variant	not provided	GBenign
Select item 348766	NM_004181.5(UCHL1):c.-24A>G	UCHL1	Single nucleotide variant (5 prime UTR variant)	Parkinson disease 5, autosomal dominant, susceptibility to +1 more	GBenign
Select item 348767	NM_004181.5(UCHL1):c.-16C>T	UCHL1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1316120	NM_004181.5(UCHL1):c.34-19C>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 348769	NM_004181.5(UCHL1):c.45+6T>C	UCHL1	Single nucleotide variant (intron variant)	Parkinson disease 5, autosomal dominant, susceptibility to +1 more	GBenign
Select item 1276212	NM_004181.5(UCHL1):c.45+19C>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326613	NM_004181.5(UCHL1):c.45+95C>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253264	NM_004181.5(UCHL1):c.45+97C>G	UCHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321021	NM_004181.5(UCHL1):c.46-199C>G	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 12298	NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr)	UCHL1 (S18Y)	Single nucleotide variant (missense variant)	Parkinson disease 5, autosomal dominant, susceptibility to +2 more	GBenign
Select item 1326482	NM_004181.5(UCHL1):c.174+46C>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264493	NM_004181.5(UCHL1):c.174+183G>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1343904	NM_004181.5(UCHL1):c.326-177G>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1343905	NM_004181.5(UCHL1):c.326-133C>T	UCHL1	Single nucleotide variant (intron variant)	not provided	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 1289132	NM_004181.5(UCHL1):c.460-252_460-249del	UCHL1	Deletion (intron variant)	not provided	GBenign
Select item 1287459	NM_004181.5(UCHL1):c.460-149T>C	UCHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268488	NM_004181.5(UCHL1):c.526+221_526+222del	UCHL1	Deletion (intron variant)	not provided	GBenign
Select item 1223012	NM_004181.5(UCHL1):c.527-199A>G	UCHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224279	NM_004181.5(UCHL1):c.527-131C>G	UCHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236475	NM_004181.5(UCHL1):c.527-126C>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223903	NM_004181.5(UCHL1):c.527-74C>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 348774	NM_004181.5(UCHL1):c.558C>T (p.Gly186=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1259807	NM_004181.5(UCHL1):c.585+117C>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1343906	NM_004181.5(UCHL1):c.586-35G>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3371772	NM_004181.5(UCHL1):c.607G>T (p.Glu203Ter)	UCHL1 (E203*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1326480	NM_004181.5(UCHL1):c.*245C>T	UCHL1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253447	GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3	CHRNA9, CWH43 +54 more	Copy number gain	See cases	GPathogenic

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Items: 32