UCHL5[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 560081	Single allele	B3GALT2, CDC73 +53 more	Deletion	Parathyroid carcinoma +2 more	GPathogenic
Select item 60078	GRCh38/hg38 1q31.2(chr1:192567876-193180049)x1	B3GALT2, CDC73 +21 more	Copy number loss	See cases	GPathogenic
Select item 3330766	NM_001199261.3(UCHL5):c.880T>C (p.Phe294Leu)	UCHL5 (F294L +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255545	NM_001199261.3(UCHL5):c.844A>T (p.Ile282Phe)	UCHL5 (I159F +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3185943	NM_001199261.3(UCHL5):c.745A>G (p.Thr249Ala)	UCHL5 (T240A +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 713439	NM_015984.5(UCHL5):c.732+4C>T	UCHL5	Single nucleotide variant	not provided	GBenign
Select item 3185941	NM_001199261.3(UCHL5):c.706G>A (p.Ala236Thr)	UCHL5 (A227T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330765	NM_001199261.3(UCHL5):c.703A>G (p.Ile235Val)	UCHL5 (I111V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264852	NM_001199261.3(UCHL5):c.635G>C (p.Ser212Thr)	UCHL5 (S212T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288194	NM_001199261.3(UCHL5):c.575A>G (p.Asn192Ser)	UCHL5 (N192S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554423	NM_001199261.3(UCHL5):c.569C>G (p.Ala190Gly)	UCHL5 (A181G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484364	NM_001199261.3(UCHL5):c.521G>A (p.Arg174Lys)	UCHL5 (R174K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332169	NM_001199261.3(UCHL5):c.442A>G (p.Met148Val)	UCHL5 (M139V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523803	NM_001199261.3(UCHL5):c.317A>G (p.His106Arg)	UCHL5 (H106R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2639670	NM_001199261.3(UCHL5):c.21G>A (p.Glu7=)	UCHL5	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3185940	NM_001199261.3(UCHL5):c.11A>G (p.Asn4Ser)	UCHL5 (N4S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808698	GRCh37/hg19 1q31.2-32.1(chr1:193011753-199882947)x1	CFHR3, CFHR4 +22 more	Copy number loss	not provided	GPathogenic
Select item 1807694	GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1	ASPM, ATP6V1G3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527481	GRCh37/hg19 1q31.2(chr1:192731793-193391298)	B3GALT2, CDC73 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic

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Items: 34