"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 994704	NM_001009944.3(PKD1):c.11589G>A (p.Leu3863=)	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	PKD1-related condition +1 more	GLikely benign
Select item 1328334	NM_001009944.3(PKD1):c.11412-6C>T	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 976834	NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 434002	NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)	PKD1, PKD1-AS1 (E3786Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1049593	NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)	PKD1, PKD1-AS1 (A3551S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 440097	NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala)	PKD1, PKD1-AS1 (G3539A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 586241	NM_001009944.3(PKD1):c.10602G>A (p.Ala3534=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

ClinVar