"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PDE8B"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2655549	NM_003719.5(PDE8B):c.208G>T (p.Ala70Ser)	PDE8B (A70S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 354149	NM_003719.5(PDE8B):c.362G>A (p.Arg121His)	PDE8B (R121H +6 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign
Select item 354154	NM_003719.5(PDE8B):c.672G>A (p.Ala224=)	PDE8B	Single nucleotide variant (synonymous variant)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign/Likely benign
Select item 2655550	NM_003719.5(PDE8B):c.1113T>C (p.Ile371=)	PDE8B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 354163	NM_003719.5(PDE8B):c.1698C>A (p.Ala566=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2655551	NM_003719.5(PDE8B):c.1908A>G (p.Val636=)	PDE8B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 354171	NM_003719.5(PDE8B):c.2263G>A (p.Asp755Asn)	PDE8B (D755N +20 more)	Single nucleotide variant (missense variant)	Autosomal dominant striatal neurodegeneration type 1 +1 more	GBenign
Select item 1012513	NM_003719.5(PDE8B):c.2331dup (p.Lys778Ter)	PDE8B (K557* +20 more)	Duplication (nonsense)	not provided	GLikely pathogenic

ClinVar