"Equipe Genetique des Anomalies du Developpement, Université de Bourgo - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500261	NM_001009944.3(PKD1):c.12143_12144insTT (p.Ser4049fs)	PKD1 (S4048fs +1 more)	Insertion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 873402	NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)	PKD1 (L3287del)	Microsatellite (inframe_deletion)	Polycystic kidney disease, adult type +1 more	GPathogenic/Likely pathogenic
Select item 1172618	NM_001009944.3(PKD1):c.[9428_9429insCACGA;9432_9433del]	PKD1 (V3145fs +1 more)	Deletion (frameshift variant)	Renal cyst	GPathogenic
Select item 433972	NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter)	PKD1 (R2163*)	Single nucleotide variant (nonsense)	not specified +3 more	GPathogenic
Select item 2500263	NM_001009944.3(PKD1):c.4895_4896del (p.Ile1632fs)	PKD1 (I1632fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1308654	NM_001009944.3(PKD1):c.491del (p.Gln164fs)	PKD1 (Q164fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic

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