C0022680[trait identifier] AND "Cavalleri Lab, Royal College of Surgeo - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 448039	NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)	PKD2 (R322W)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +4 more	GPathogenic/Likely pathogenic
Select item 280008	NM_000297.4(PKD2):c.1094+1G>A	PKD2	Single nucleotide variant (splice donor variant)	Polycystic kidney disease 2 +1 more	GPathogenic
Select item 449307	NM_000297.4(PKD2):c.2020-1_2020del	PKD2	Deletion (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 448036	NM_000297.4(PKD2):c.2614C>T (p.Arg872Ter)	PKD2 (R872*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 977306	NM_138694.4(PKHD1):c.12029A>C (p.Gln4010Pro)	PKHD1 (Q4010P)	Single nucleotide variant (missense variant)	Polycystic kidney disease	GLikely pathogenic
Select item 4108	NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	PKHD1 (T36M)	Single nucleotide variant (missense variant)	Polycystic kidney disease +8 more	GPathogenic/Likely pathogenic
Select item 803159	NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys)	PKD1 (R4154C +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 636966	NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)	PKD1, PKD1-AS1 (R3750Q +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +2 more	GConflicting classifications of pathogenicity
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 871751	NM_001009944.3(PKD1):c.8299C>T (p.Arg2767Cys)	PKD1 (R2767C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 873394	NM_001009944.3(PKD1):c.8017-1G>C	PKD1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 873330	NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter)	PKD1 (Q2123*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 433970	NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter)	PKD1 (Q2067*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 447985	NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)	PKD1 (R1672fs)	Deletion (frameshift variant)	Polycystic liver disease 1 +3 more	GPathogenic
Select item 873373	NM_001009944.3(PKD1):c.4082T>C (p.Leu1361Pro)	PKD1 (L1361P)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 586271	NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)	PKD1 (N1240del)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 873346	NM_001009944.3(PKD1):c.3696CGC[1] (p.Ala1234del)	PKD1 (A1234del)	Microsatellite (inframe_deletion)	Polycystic kidney disease, adult type +1 more	GLikely pathogenic
Select item 977303	NM_001009944.3(PKD1):c.2986-1G>A	PKD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease	GPathogenic
Select item 988772	NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser)	PKD1 (G960S)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GConflicting classifications of pathogenicity
Select item 8206	NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)	PKD1 (L845S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 977305	NM_001009944.3(PKD1):c.2376_2382del (p.Pro793fs)	PKD1 (P793fs)	Deletion (frameshift variant)	Polycystic kidney disease	GPathogenic
Select item 562302	NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)	PKD1 (L727P)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +3 more	GConflicting classifications of pathogenicity
Select item 433949	NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)	PKD1 (R611W)	Single nucleotide variant (missense variant)	PKD1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 636675	NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)	PKD1 (Y325C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 873374	NM_001009944.3(PKD1):c.348_352del (p.Asn116fs)	PKD1 (N116fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 873354	NM_001009944.3(PKD1):c.301A>G (p.Asn101Asp)	PKD1 (N101D)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 977304	NM_001009944.3(PKD1):c.195_196insGACC (p.Pro66fs)	PKD1 (P66fs)	Insertion (frameshift variant)	Polycystic kidney disease	GPathogenic

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Items: 27