"(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Do - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 873339	NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter)	PKD1 (Q4225* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 997169	NM_001009944.3(PKD1):c.12178C>T (p.Gln4060Ter)	PKD1 (Q4059* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 1699911	NM_001009944.3(PKD1):c.12167G>A (p.Trp4056Ter)	PKD1 (W4055* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 636627	NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter)	PKD1 (R4021* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 917545	NM_001009944.3(PKD1):c.11294_11313del (p.Pro3765fs)	PKD1, PKD1-AS1 (P3764fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1699923	NM_001009944.3(PKD1):c.11112_11119dup (p.Gln3707fs)	PKD1, PKD1-AS1 (Q3706fs +1 more)	Duplication (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GPathogenic
Select item 1699922	NM_001009944.3(PKD1):c.10822-2A>G	PKD1, PKD1-AS1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1699921	NM_001009944.3(PKD1):c.10725_10726dup (p.Val3576fs)	PKD1, PKD1-AS1 (V3575fs +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)	not provided +1 more	GPathogenic
Select item 917543	NM_001009944.3(PKD1):c.10441del (p.Val3481fs)	PKD1 (V3481fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 636689	NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del)	PKD1	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1699917	NM_001009944.3(PKD1):c.7957_7958del (p.Leu2653fs)	PKD1 (L2653fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 917544	NM_001009944.3(PKD1):c.7292T>A (p.Leu2431Gln)	PKD1 (L2431Q)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GPathogenic/Likely pathogenic
Select item 993350	NM_001009944.3(PKD1):c.6871C>T (p.Gln2291Ter)	PKD1 (Q2291*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 447985	NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)	PKD1 (R1672fs)	Deletion (frameshift variant)	Polycystic liver disease 1 +2 more	GPathogenic
Select item 1699916	NM_001009944.3(PKD1):c.4995del (p.Trp1666fs)	PKD1 (W1666fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 636752	NM_001009944.3(PKD1):c.4988_4990del (p.Ser1663del)	PKD1 (S1663del)	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 972883	NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)	PKD1 (I1610del)	Microsatellite (inframe_deletion)	Polycystic kidney disease, adult type +2 more	GConflicting classifications of pathogenicity
Select item 1699914	NM_001009944.3(PKD1):c.4419del (p.Asn1474fs)	PKD1 (N1474fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1699913	NM_001009944.3(PKD1):c.4214G>A (p.Trp1405Ter)	PKD1 (W1405*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 811713	NM_001009944.3(PKD1):c.3346C>T (p.Gln1116Ter)	PKD1 (Q1116*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 972875	NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter)	PKD1 (Q1068*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 917542	NM_001009944.3(PKD1):c.2702G>A (p.Trp901Ter)	PKD1 (W901*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 433949	NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)	PKD1 (R611W)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GConflicting classifications of pathogenicity
Select item 1699912	NM_001009944.3(PKD1):c.1548G>A (p.Trp516Ter)	PKD1 (W516*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic

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Items: 25