"Illumina Laboratory Services, Illumina"[submitter] AND "AUP1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 896013	NM_181575.5(AUP1):c.141C>T (p.Ile47=)	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337116	NM_181575.5(AUP1):c.129C>G (p.Leu43=)	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson disease 13, autosomal dominant, susceptibility to +1 more	GBenign
Select item 337117	NM_181575.5(AUP1):c.90C>G (p.Leu30=)	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson disease 13, autosomal dominant, susceptibility to +1 more	GLikely benign
Select item 896014	NM_181575.5(AUP1):c.51-4C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GLikely benign
Select item 337118	NM_181575.5(AUP1):c.25C>T (p.Pro9Ser)	AUP1, HTRA2 (P9S)	Single nucleotide variant (5 prime UTR variant +2 more)	Parkinson disease 13, autosomal dominant, susceptibility to +1 more	GUncertain significance
Select item 337119	NM_181575.5(AUP1):c.-15C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GLikely benign
Select item 896015	NM_181575.5(AUP1):c.-17C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 337120	NM_181575.5(AUP1):c.-19C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance
Select item 897609	NM_181575.5(AUP1):c.-54C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GLikely benign
Select item 337121	NM_181575.5(AUP1):c.-64C>T	AUP1, HTRA2	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease 13, autosomal dominant, susceptibility to	GUncertain significance