ClinVar for Gene (Select 7345) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234414	NM_004181.5(UCHL1):c.501C>T (p.Asn167=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3036561	NM_004181.5(UCHL1):c.46-4G>A	UCHL1	Single nucleotide variant (intron variant)	UCHL1-related disorder	GLikely benign
Select item 3032576	NM_004181.5(UCHL1):c.585+4A>T	UCHL1	Single nucleotide variant (intron variant)	UCHL1-related disorder	GLikely benign
Select item 3022237	NM_004181.5(UCHL1):c.459+19C>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007429	NM_004181.5(UCHL1):c.436G>A (p.Val146Met)	UCHL1 (V146M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006188	NM_004181.5(UCHL1):c.526+12T>C	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998693	NM_004181.5(UCHL1):c.243C>T (p.Phe81=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995559	NM_004181.5(UCHL1):c.255C>T (p.Thr85=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2982406	NM_004181.5(UCHL1):c.411+14C>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2973529	NM_004181.5(UCHL1):c.546G>T (p.Pro182=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968322	NM_004181.5(UCHL1):c.459+19C>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2958453	NM_004181.5(UCHL1):c.14C>T (p.Pro5Leu)	UCHL1 (P5L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956957	NM_004181.5(UCHL1):c.46-13C>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901721	NM_004181.5(UCHL1):c.519T>C (p.Tyr173=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2832891	NM_004181.5(UCHL1):c.325+10G>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830858	NM_004181.5(UCHL1):c.576C>G (p.Thr192=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825625	NM_004181.5(UCHL1):c.564T>C (p.Ser188=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809260	NM_004181.5(UCHL1):c.526+3_526+4del	UCHL1	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2808003	NM_004181.5(UCHL1):c.418C>G (p.Gln140Glu)	UCHL1 (Q140E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796344	NM_004181.5(UCHL1):c.653C>A (p.Ala218Asp)	UCHL1 (A218D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2745700	NM_004181.5(UCHL1):c.460-19A>G	UCHL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2728875	NM_004181.5(UCHL1):c.412-5dup	UCHL1	Duplication (intron variant)	not provided	GLikely benign
Select item 2716341	NM_004181.5(UCHL1):c.495T>A (p.Phe165Leu)	UCHL1 (F165L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713943	NM_004181.5(UCHL1):c.210G>A (p.Leu70=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700141	NM_004181.5(UCHL1):c.33+15C>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2664330	NM_004181.5(UCHL1):c.603C>G (p.Cys201Trp)	UCHL1 (C201W)	Single nucleotide variant (missense variant)	Spastic paraplegia 79A, autosomal dominant, with ataxia	GUncertain significance
Select item 2654739	NM_004181.5(UCHL1):c.315A>G (p.Lys105=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2633436	NM_004181.5(UCHL1):c.644C>T (p.Ser215Phe)	UCHL1 (S215F)	Single nucleotide variant (missense variant)	UCHL1-related disorder	GUncertain significance
Select item 2583021	NM_004181.5(UCHL1):c.566C>T (p.Ser189Leu)	UCHL1 (S189L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
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 2526951	NM_004181.5(UCHL1):c.608A>G (p.Glu203Gly)	UCHL1 (E203G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506554	GRCh37/hg19 4p14-13(chr4:40337485-41941400)	APBB2, CHRNA9 +6 more	Copy number loss	not provided	GPathogenic
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 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 2438465	NM_004181.5(UCHL1):c.569A>G (p.Glu190Gly)	UCHL1 (E190G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418307	NM_004181.5(UCHL1):c.34-7C>G	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2414139	NM_004181.5(UCHL1):c.423A>G (p.Ala141=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2279747	NM_004181.5(UCHL1):c.366G>T (p.Glu122Asp)	UCHL1 (E122D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277417	NM_004181.5(UCHL1):c.616G>A (p.Glu206Lys)	UCHL1 (E206K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2174071	NM_004181.5(UCHL1):c.383A>G (p.Asp128Gly)	UCHL1 (D128G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2107366	NM_004181.5(UCHL1):c.326-16C>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2095621	NM_004181.5(UCHL1):c.552C>G (p.Asn184Lys)	UCHL1 (N184K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079144	NM_004181.5(UCHL1):c.585+11G>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2078425	NM_004181.5(UCHL1):c.459+3A>G	UCHL1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2077519	NM_004181.5(UCHL1):c.145CTG[5] (p.Leu52_Phe53insLeu)	UCHL1	Microsatellite (inframe_insertion)	not provided	GPathogenic
Select item 2073086	NM_004181.5(UCHL1):c.407A>G (p.Asn136Ser)	UCHL1 (N136S)	Single nucleotide variant (missense variant)	not provided +1 more	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 2066883	NM_004181.5(UCHL1):c.326-16C>G	UCHL1	Single nucleotide variant (intron 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 2038550	NM_004181.5(UCHL1):c.90C>A (p.Asp30Glu)	UCHL1 (D30E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2028768	NM_004181.5(UCHL1):c.213G>A (p.Lys71=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015780	NM_004181.5(UCHL1):c.586-8C>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2015226	NM_004181.5(UCHL1):c.527-7_527-5dup	UCHL1	Duplication (intron variant)	not provided	GLikely benign
Select item 2004201	NM_004181.5(UCHL1):c.540T>G (p.Pro180=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1998557	NM_004181.5(UCHL1):c.411+14_411+15del	UCHL1	Deletion (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 1969303	NM_004181.5(UCHL1):c.292G>A (p.Ala98Thr)	UCHL1 (A98T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957457	NM_004181.5(UCHL1):c.374C>T (p.Ser125Phe)	UCHL1 (S125F)	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 1954402	NM_004181.5(UCHL1):c.585+24_585+26del	UCHL1	Microsatellite (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 1936618	NM_004181.5(UCHL1):c.655C>T (p.Leu219Phe)	UCHL1 (L219F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932838	NM_004181.5(UCHL1):c.459+20G>A	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932300	NM_004181.5(UCHL1):c.460G>A (p.Val154Ile)	UCHL1 (V154I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922436	NM_004181.5(UCHL1):c.46-15G>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910507	NM_004181.5(UCHL1):c.279C>T (p.Ile93=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909530	NM_004181.5(UCHL1):c.66C>A (p.Val22=)	UCHL1	Single nucleotide variant (synonymous 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 1902614	NM_004181.5(UCHL1):c.435C>G (p.Ala145=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1895575	NM_004181.5(UCHL1):c.34-8C>G	UCHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
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 1675948	NM_004181.5(UCHL1):c.648C>A (p.Ala216=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642178	NM_004181.5(UCHL1):c.459+11del	UCHL1	Deletion (intron variant)	not provided	GLikely 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 1619153	NM_004181.5(UCHL1):c.555T>C (p.His185=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1604637	NM_004181.5(UCHL1):c.175-17G>A	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 1576331	NM_004181.5(UCHL1):c.444G>A (p.Gln148=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1555019	NM_004181.5(UCHL1):c.175-18C>A	UCHL1	Single nucleotide variant (intron 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 1546966	NM_004181.5(UCHL1):c.45+15_45+24dup	UCHL1	Duplication (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 1533439	NM_004181.5(UCHL1):c.175-18C>T	UCHL1	Single nucleotide variant (intron variant)	not provided	GBenign

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