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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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)	Polycystic kidney disease, adult type +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)	not provided +1 more	GPathogenic
Select item 586238	NM_001009944.3(PKD1):c.10167+25_10167+43del	PKD1	Deletion (intron variant)	Autosomal dominant polycystic kidney disease +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)	Renal cyst +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)	not provided +1 more	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, adult type +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 27