"3billion"[submitter] AND "PKD1"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562326	NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter)	PKD1 (Q4231* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic/Likely pathogenic
Select item 434009	NM_001009944.3(PKD1):c.12514del (p.Ser4172fs)	PKD1 (S4171fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GUncertain significance
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 1687355	NM_001009944.3(PKD1):c.11633_11660dup (p.Phe3888fs)	PKD1, PKD1-AS1 (F3887fs +1 more)	Duplication (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1526103	NM_001009944.3(PKD1):c.11155C>T (p.Arg3719Trp)	PKD1, PKD1-AS1 (R3718W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GUncertain significance
Select item 419960	NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter)	PKD1 (Q3474* +1 more)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 586238	NM_001009944.3(PKD1):c.10167+25_10167+43del	PKD1	Deletion (intron variant)	Polycystic kidney disease, adult type +2 more	GPathogenic/Likely pathogenic
Select item 448027	NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met)	PKD1 (T3135M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1705693	NM_001009944.3(PKD1):c.9382T>A (p.Trp3128Arg)	PKD1 (W3128R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 2444175	NM_001009944.3(PKD1):c.9355A>T (p.Lys3119Ter)	PKD1 (K3119*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1333533	NM_001009944.3(PKD1):c.9202-1G>A	PKD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1526218	NM_001009944.3(PKD1):c.8299dup (p.Arg2767fs)	PKD1 (R2767fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1526113	NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup)	PKD1	Duplication (inframe_insertion)	Polycystic kidney disease, adult type	GConflicting classifications of pathogenicity
Select item 2444027	NM_001009944.3(PKD1):c.6987_6988insATGGCGG (p.Leu2330fs)	PKD1 (L2330fs)	Insertion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1705472	NM_001009944.3(PKD1):c.6813_6814del (p.Arg2272fs)	PKD1 (R2272fs)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1526051	NM_001009944.3(PKD1):c.6657_6671dup (p.Arg2220_Pro2224dup)	PKD1	Duplication (inframe_insertion)	Polycystic kidney disease, adult type +1 more	GUncertain significance
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 2572484	NM_001009944.3(PKD1):c.6420del (p.Val2141fs)	PKD1 (V2141fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1526112	NM_001009944.3(PKD1):c.5722C>T (p.Gln1908Ter)	PKD1 (Q1908*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 2444335	NM_001009944.3(PKD1):c.5115del (p.Ser1705fs)	PKD1 (S1705fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1687410	NM_001009944.3(PKD1):c.4241G>C (p.Trp1414Ser)	PKD1 (W1414S)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2572445	NM_001009944.3(PKD1):c.3902C>T (p.Pro1301Leu)	PKD1 (P1301L)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1705337	NM_001009944.3(PKD1):c.3165G>A (p.Trp1055Ter)	PKD1 (W1055*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1705630	NM_001009944.3(PKD1):c.2784_2796del (p.Glu929fs)	PKD1 (E929fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 8206	NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	PKD1 (L845S)	Single nucleotide variant (missense variant)	Polycystic kidney disease 3 with or without polycystic liver disease +2 more	GPathogenic/Likely pathogenic
Select item 1687587	NM_001009944.3(PKD1):c.2089C>T (p.Gln697Ter)	PKD1 (Q697*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 1687443	NM_001009944.3(PKD1):c.1309C>T (p.Gln437Ter)	PKD1 (Q437*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic

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Items: 27