"Institute of Human Genetics, University of Wuerzburg"[submitter] AND - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 560353	NM_001009944.3(PKD1):c.11215C>T (p.Gln3739Ter)	PKD1-AS1, PKD1 (Q3739* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease	GPathogenic
Select item 560354	NM_001009944.3(PKD1):c.10619-1G>A	PKD1, PKD1-AS1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease	GLikely pathogenic
Select item 689540	NM_001009944.3(PKD1):c.7904dup (p.Arg2636fs)	PKD1 (R2636fs)	Duplication (frameshift variant)	Renal insufficiency	GLikely pathogenic
Select item 427767	NM_001009944.3(PKD1):c.7818dup (p.His2607fs)	PKD1 (H2607fs)	Duplication (frameshift variant)	Polycystic kidney disease	GPathogenic
Select item 446474	NM_001009944.3(PKD1):c.1827G>A (p.Val609=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease	GUncertain significance

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