UCHL1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 191

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 145612	GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3	LOC126807045, LOC126807046 +171 more	Copy number gain	See cases	GPathogenic
Select item 1260738	NR_102709.1(UCHL1-DT):n.58T>C	UCHL1, UCHL1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1246763	NR_102709.1(UCHL1-DT):n.57T>C	UCHL1, UCHL1-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1290707	NR_102709.1(UCHL1-DT):n.33C>G	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 348764	NM_004181.4(UCHL1):c.-71C>G	UCHL1	Single nucleotide variant	Parkinson disease 5, autosomal dominant, susceptibility to	GBenign
Select item 901591	NM_004181.4(UCHL1):c.-59C>G	UCHL1	Single nucleotide variant	Parkinson disease 5, autosomal dominant, susceptibility to	GUncertain significance
Select item 901592	NM_004181.4(UCHL1):c.-51C>A	UCHL1	Single nucleotide variant	Parkinson disease 5, autosomal dominant, susceptibility to	GUncertain significance
Select item 348765	NM_004181.5(UCHL1):c.-47C>T	UCHL1	Single nucleotide variant (5 prime UTR variant)	Parkinson disease 5, autosomal dominant, susceptibility to	GUncertain significance
Select item 903523	NM_004181.5(UCHL1):c.-46T>C	UCHL1	Single nucleotide variant (5 prime UTR variant)	Parkinson disease 5, autosomal dominant, susceptibility to	GUncertain significance
Select item 903524	NM_004181.5(UCHL1):c.-26C>T	UCHL1	Single nucleotide variant (5 prime UTR variant)	Parkinson disease 5, autosomal dominant, susceptibility to	GUncertain significance
Select item 903525	NM_004181.5(UCHL1):c.-25T>C	UCHL1	Single nucleotide variant (5 prime UTR variant)	Parkinson disease 5, autosomal dominant, susceptibility to	GUncertain significance
Select item 348766	NM_004181.5(UCHL1):c.-24A>G	UCHL1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 903526	NM_004181.5(UCHL1):c.-17C>T	UCHL1	Single nucleotide variant (5 prime UTR variant)	Parkinson disease 5, autosomal dominant, susceptibility to	GUncertain significance
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 2958453	NM_004181.5(UCHL1):c.14C>T (p.Pro5Leu)	UCHL1 (P5L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2306308	NM_004181.5(UCHL1):c.16A>T (p.Met6Leu)	UCHL1 (M6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 88635	NM_004181.5(UCHL1):c.20A>C (p.Glu7Ala)	UCHL1 (E7A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1298958	NM_004181.5(UCHL1):c.23T>C (p.Ile8Thr)	UCHL1 (I8T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447591	NM_004181.5(UCHL1):c.30del (p.Glu11fs)	UCHL1 (E11fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 348768	NM_004181.5(UCHL1):c.33+5G>C	UCHL1	Single nucleotide variant (intron variant)	Parkinson disease 5, autosomal dominant, susceptibility to	GUncertain significance
Select item 2700141	NM_004181.5(UCHL1):c.33+15C>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991754	NM_004181.5(UCHL1):c.33+19G>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316120	NM_004181.5(UCHL1):c.34-19C>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1895575	NM_004181.5(UCHL1):c.34-8C>G	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2418307	NM_004181.5(UCHL1):c.34-7C>G	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906957	NM_004181.5(UCHL1):c.45+3G>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 348769	NM_004181.5(UCHL1):c.45+6T>C	UCHL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1546966	NM_004181.5(UCHL1):c.45+15_45+24dup	UCHL1	Duplication (intron variant)	not provided	GLikely benign
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 1922436	NM_004181.5(UCHL1):c.46-15G>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956957	NM_004181.5(UCHL1):c.46-13C>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1581919	NM_004181.5(UCHL1):c.46-6C>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3036561	NM_004181.5(UCHL1):c.46-4G>A	UCHL1	Single nucleotide variant (intron variant)	UCHL1-related disorder	GLikely benign
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
Select item 2963967	NM_004181.5(UCHL1):c.55C>T (p.Arg19Trp)	UCHL1 (R19W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986797	NM_004181.5(UCHL1):c.64dup (p.Val22fs)	UCHL1 (V22fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 1909530	NM_004181.5(UCHL1):c.66C>A (p.Val22=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771361	NM_004181.5(UCHL1):c.69C>T (p.Ala23=)	UCHL1	Single nucleotide variant (synonymous variant)	Parkinson disease 5, autosomal dominant, susceptibility to +1 more	GLikely benign
Select item 2765584	NM_004181.5(UCHL1):c.70G>C (p.Gly24Arg)	UCHL1 (G24R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443800	NM_004181.5(UCHL1):c.73C>T (p.Gln25Ter)	UCHL1 (Q25*)	Single nucleotide variant (nonsense)	Spastic paraplegia 79A, autosomal dominant, with ataxia	GPathogenic
Select item 2038550	NM_004181.5(UCHL1):c.90C>A (p.Asp30Glu)	UCHL1 (D30E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443801	NM_004181.5(UCHL1):c.95_98dup (p.Leu34fs)	UCHL1 (L34fs)	Duplication (frameshift variant)	Spastic paraplegia 79A, autosomal dominant, with ataxia	GPathogenic
Select item 2106567	NM_004181.5(UCHL1):c.106G>A (p.Glu36Lys)	UCHL1 (E36K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977699	NM_004181.5(UCHL1):c.113C>G (p.Ser38Cys)	UCHL1 (S38C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954778	NM_004181.5(UCHL1):c.113C>T (p.Ser38Phe)	UCHL1 (S38F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072125	NM_004181.5(UCHL1):c.131C>T (p.Ala44Val)	UCHL1 (A44V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077519	NM_004181.5(UCHL1):c.145CTG[5] (p.Leu52_Phe53insLeu)	UCHL1	Microsatellite (inframe_insertion)	not provided	GPathogenic
Select item 759254	NM_004181.5(UCHL1):c.162C>T (p.Pro54=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 899924	NM_004181.5(UCHL1):c.174+6G>A	UCHL1	Single nucleotide variant (intron variant)	Parkinson disease 5, autosomal dominant, susceptibility to	GUncertain significance
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 1555019	NM_004181.5(UCHL1):c.175-18C>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533439	NM_004181.5(UCHL1):c.175-18C>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1604637	NM_004181.5(UCHL1):c.175-17G>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542775	NM_004181.5(UCHL1):c.175-10A>G	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 348770	NM_004181.5(UCHL1):c.175-5C>T	UCHL1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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 2713943	NM_004181.5(UCHL1):c.210G>A (p.Leu70=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2028768	NM_004181.5(UCHL1):c.213G>A (p.Lys71=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 899925	NM_004181.5(UCHL1):c.223G>A (p.Val75Ile)	UCHL1 (V75I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2998693	NM_004181.5(UCHL1):c.243C>T (p.Phe81=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2995559	NM_004181.5(UCHL1):c.255C>T (p.Thr85=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432871	NM_004181.5(UCHL1):c.256A>G (p.Ile86Val)	UCHL1 (I86V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2578416	NM_004181.5(UCHL1):c.260_261dup (p.Asn88fs)	UCHL1, UCHL1-DT (N88fs)	Duplication (frameshift variant)	Spastic paraplegia 79A, autosomal dominant, with ataxia	GPathogenic
Select item 2003923	NM_004181.5(UCHL1):c.275C>T (p.Thr92Ile)	UCHL1 (T92I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910507	NM_004181.5(UCHL1):c.279C>T (p.Ile93=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 12297	NM_004181.5(UCHL1):c.279C>G (p.Ile93Met)	UCHL1 (I93M)	Single nucleotide variant (missense variant)	Parkinson disease 5, autosomal dominant, susceptibility to	Grisk factor
Select item 1469118	NM_004181.5(UCHL1):c.280G>A (p.Gly94Arg)	UCHL1 (G94R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133467	NM_004181.5(UCHL1):c.282A>T (p.Gly94=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054092	NM_004181.5(UCHL1):c.291C>T (p.His97=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969303	NM_004181.5(UCHL1):c.292G>A (p.Ala98Thr)	UCHL1 (A98T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989351	NM_004181.5(UCHL1):c.294A>G (p.Ala98=)	UCHL1	Single nucleotide variant (synonymous variant)	UCHL1-related disorder +1 more	GLikely benign
Select item 2654739	NM_004181.5(UCHL1):c.315A>G (p.Lys105=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1550990	NM_004181.5(UCHL1):c.325+7G>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832891	NM_004181.5(UCHL1):c.325+10G>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946034	NM_004181.5(UCHL1):c.325+13T>G	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2107366	NM_004181.5(UCHL1):c.326-16C>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2066883	NM_004181.5(UCHL1):c.326-16C>G	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529935	NM_004181.5(UCHL1):c.326-5_326-4dup	UCHL1	Duplication (intron variant)	not provided	GBenign
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 348771	NM_004181.5(UCHL1):c.326-4del	UCHL1	Deletion (intron variant)	Parkinson Disease, Dominant +3 more	GBenign/Likely benign
Select item 987431	NM_004181.5(UCHL1):c.349_364del (p.Phe117fs)	UCHL1 (F117fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 2637556	NM_004181.5(UCHL1):c.341T>A (p.Leu114Gln)	UCHL1 (L114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2873279	NM_004181.5(UCHL1):c.347A>T (p.Gln116Leu)	UCHL1 (Q116L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068443	NM_004181.5(UCHL1):c.366_367del (p.Lys123fs)	UCHL1 (K123fs)	Microsatellite (frameshift variant)	Spastic paraplegia 79A, autosomal dominant, with ataxia	GPathogenic
Select item 2279747	NM_004181.5(UCHL1):c.366G>T (p.Glu122Asp)	UCHL1 (E122D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 252624	NM_004181.5(UCHL1):c.370A>C (p.Met124Leu)	UCHL1 (M124L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1957457	NM_004181.5(UCHL1):c.374C>T (p.Ser125Phe)	UCHL1 (S125F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 2