ClinVar for MedGen (Select 462249) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338080	NM_004181.5(UCHL1):c.629_631del (p.Gly210del)	UCHL1 (G210del)	Deletion (inframe_deletion)	Parkinson disease 5, autosomal dominant, susceptibility to	GLikely pathogenic
Select item 1621183	NM_004181.5(UCHL1):c.175-4G>A	UCHL1	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
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 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 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 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 901643	NM_004181.5(UCHL1):c.*276T>A	UCHL1	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 5, autosomal dominant, susceptibility to	GLikely benign
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 901592	NM_004181.4(UCHL1):c.-51C>A	UCHL1	Single nucleotide variant	Parkinson disease 5, autosomal dominant, susceptibility to	GUncertain significance
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 901096	NM_004181.5(UCHL1):c.*84C>G	UCHL1	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 5, autosomal dominant, susceptibility to	GUncertain significance
Select item 901095	NM_004181.5(UCHL1):c.586-4C>A	UCHL1	Single nucleotide variant (intron variant)	Parkinson disease 5, autosomal dominant, susceptibility to	GUncertain significance
Select item 901094	NM_004181.5(UCHL1):c.457C>T (p.Arg153Trp)	UCHL1 (R153W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 899925	NM_004181.5(UCHL1):c.223G>A (p.Val75Ile)	UCHL1 (V75I)	Single nucleotide variant (missense variant)	Parkinson disease 5, autosomal dominant, susceptibility to +1 more	GUncertain significance
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 771361	NM_004181.5(UCHL1):c.69C>T (p.Ala23=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 731878	NM_004181.5(UCHL1):c.412-4G>A	UCHL1	Single nucleotide variant (intron variant)	Parkinson disease 5, autosomal dominant, susceptibility to +1 more	GConflicting classifications of pathogenicity
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 348778	NM_004181.5(UCHL1):c.*309T>C	UCHL1	Single nucleotide variant (3 prime UTR variant)	Parkinson disease 5, autosomal dominant, susceptibility to	GBenign
Select item 348777	NM_004181.5(UCHL1):c.*294G>A	UCHL1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 348776	NM_004181.5(UCHL1):c.*125C>T	UCHL1	Single nucleotide variant (3 prime UTR 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)	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome +2 more	GBenign/Likely benign
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 348773	NM_004181.5(UCHL1):c.527-3C>T	UCHL1	Single nucleotide variant (intron variant)	Parkinson disease 5, autosomal dominant, susceptibility to	GUncertain significance
Select item 348772	NM_004181.5(UCHL1):c.513C>T (p.His171=)	UCHL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely 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 348770	NM_004181.5(UCHL1):c.175-5C>T	UCHL1	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	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 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 348767	NM_004181.5(UCHL1):c.-16C>T	UCHL1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	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 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 348764	NM_004181.4(UCHL1):c.-71C>G	UCHL1	Single nucleotide variant	not provided +1 more	GBenign
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 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 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

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Items: 36