"Juno Genomics, Hangzhou Juno Genomics, Inc"[submitter] AND "PKD1-AS1" - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335883	NM_001009944.3(PKD1):c.11586dup (p.Leu3863fs)	PKD1, PKD1-AS1 (L3862fs +1 more)	Duplication (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335867	NM_001009944.3(PKD1):c.11441_11459dup (p.Val3820_Gln3821insTer)	PKD1, PKD1-AS1	Duplication (nonsense +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 562287	NM_001009944.3(PKD1):c.11379del (p.Thr3794fs)	PKD1, PKD1-AS1 (T3793fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type +2 more	GPathogenic
Select item 3335879	NM_001009944.3(PKD1):c.11352_11355del (p.Trp3785fs)	PKD1, PKD1-AS1 (W3784fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335857	NM_001009944.3(PKD1):c.11354G>A (p.Trp3785Ter)	PKD1, PKD1-AS1 (W3785* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 488405	NM_001009944.3(PKD1):c.11314del (p.Ala3772fs)	PKD1, PKD1-AS1 (A3772fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335881	NM_001009944.3(PKD1):c.11277_11280dup (p.Asp3761fs)	PKD1, PKD1-AS1 (D3761fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1255683	NM_001009944.3(PKD1):c.11270-1G>A	PKD1, PKD1-AS1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 805137	NM_001009944.3(PKD1):c.11017-10C>A	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease +2 more	GPathogenic/Likely pathogenic
Select item 3037303	NM_001009944.3(PKD1):c.10966del (p.Leu3656fs)	PKD1, PKD1-AS1 (L3655fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 3335846	NM_001009944.3(PKD1):c.10803_10807del (p.Trp3603fs)	PKD1, PKD1-AS1 (W3603fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2632584	NM_001009944.3(PKD1):c.10619-2A>G	PKD1, PKD1-AS1	Single nucleotide variant (splice acceptor variant)	PKD1-related disorder +1 more	GPathogenic
Select item 3335873	NM_001009944.3(PKD1):c.10594dup (p.Gln3532fs)	PKD1-AS1, PKD1 (Q3531fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1077162	NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs)	PKD1, PKD1-AS1 (E3508fs +1 more)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 3335845	NM_001009944.3(PKD1):c.10524_10525insT (p.Glu3509Ter)	PKD1, PKD1-AS1 (E3508* +1 more)	Insertion (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 1179066	NM_001009944.3(PKD1):c.10516del (p.Glu3506fs)	PKD1, PKD1-AS1 (E3505fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic