"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447964	NM_001009944.3(PKD1):c.12769G>A (p.Gly4257Arg)	PKD1 (G4256R +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +3 more	GBenign/Likely benign
Select item 434011	NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 256921	NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +3 more	GBenign
Select item 256912	NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 440098	NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe)	PKD1 (C3905F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 994704	NM_001009944.3(PKD1):c.11589G>A (p.Leu3863=)	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1328334	NM_001009944.3(PKD1):c.11412-6C>T	PKD1, PKD1-AS1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 976834	NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 434002	NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln)	PKD1, PKD1-AS1 (E3786Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1049593	NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)	PKD1, PKD1-AS1 (A3551S +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 440097	NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala)	PKD1, PKD1-AS1 (G3539A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 586241	NM_001009944.3(PKD1):c.10602G>A (p.Ala3534=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 997257	NM_001009944.3(PKD1):c.10400C>T (p.Ala3467Val)	PKD1 (A3466V +1 more)	Single nucleotide variant (missense variant)	PKD1-related disorder	GBenign
Select item 387124	NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val)	PKD1 (A3442V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 257047	NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1285192	NM_001009944.3(PKD1):c.9708C>T (p.Ala3236=)	PKD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 811571	NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met)	PKD1 (V3008M)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GBenign/Likely benign
Select item 257036	NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 257028	NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile)	PKD1 (V2905I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 997132	NM_001009944.3(PKD1):c.8689G>A (p.Val2897Ile)	PKD1 (V2897I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 805189	NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del)	PKD1	Deletion (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 257018	NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 183257	NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)	PKD1 (R2765C)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +3 more	GConflicting classifications of pathogenicity
Select item 440127	NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 994020	NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu)	PKD1 (Q2735L)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +3 more	GConflicting classifications of pathogenicity
Select item 994411	NM_001009944.3(PKD1):c.8200C>A (p.Pro2734Thr)	PKD1 (P2734T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1328371	NM_001009944.3(PKD1):c.8161+7C>T	PKD1	Single nucleotide variant (intron variant)	PKD1-related disorder	GLikely benign
Select item 433986	NM_001009944.3(PKD1):c.8118C>T (p.Thr2706=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder +1 more	GLikely benign
Select item 440103	NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)	PKD1 (A2704V)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +3 more	GBenign/Likely benign
Select item 381477	NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr)	PKD1 (H2546Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 586297	NM_001009944.3(PKD1):c.7605C>T (p.Tyr2535=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 257000	NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)	PKD1 (R2477C)	Single nucleotide variant (missense variant)	Narrow chest +5 more	GConflicting classifications of pathogenicity
Select item 1328051	NM_001009944.3(PKD1):c.7120A>T (p.Lys2374Ter)	PKD1 (K2374*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 447998	NM_001009944.3(PKD1):c.6965C>T (p.Thr2322Met)	PKD1 (T2322M)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1284922	NM_001009944.3(PKD1):c.6882C>T (p.Leu2294=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder	GLikely benign
Select item 447996	NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)	PKD1 (T2250M)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GConflicting classifications of pathogenicity
Select item 447995	NM_001009944.3(PKD1):c.6665C>T (p.Ala2222Val)	PKD1 (A2222V)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +4 more	GConflicting classifications of pathogenicity
Select item 256989	NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys)	PKD1 (R2166C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 433973	NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln)	PKD1 (R2163Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1194414	NM_001009944.3(PKD1):c.6331G>A (p.Glu2111Lys)	PKD1 (E2111K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 440089	NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 256986	NM_001009944.3(PKD1):c.6078C>T (p.Val2026=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 997306	NM_001009944.3(PKD1):c.6007G>A (p.Ala2003Thr)	PKD1 (A2003T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1328032	NM_001009944.3(PKD1):c.5772C>T (p.Gly1924=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 256980	NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1256445	NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 433966	NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile)	PKD1 (T1773I)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +3 more	GBenign/Likely benign
Select item 1328313	NM_001009944.3(PKD1):c.5180C>T (p.Pro1727Leu)	PKD1 (P1727L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328264	NM_001009944.3(PKD1):c.5070C>T (p.Ala1690=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder +1 more	GLikely benign
Select item 256971	NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 256970	NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 997131	NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder +1 more	GLikely benign
Select item 1328309	NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys)	PKD1 (R1587C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1206161	NM_001009944.3(PKD1):c.4654GTC[1] (p.Val1553del)	PKD1 (V1553del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 256967	NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr)	PKD1 (A1516T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 997160	NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 256966	NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 256964	NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr)	PKD1 (A1422T)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 256960	NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp)	PKD1 (R1340W)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 1049027	NM_001009944.3(PKD1):c.4014C>T (p.Thr1338=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1328290	NM_001009944.3(PKD1):c.3904G>A (p.Ala1302Thr)	PKD1 (A1302T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1328359	NM_001009944.3(PKD1):c.3569G>A (p.Arg1190His)	PKD1 (R1190H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 256955	NM_001009944.3(PKD1):c.3525G>A (p.Pro1175=)	PKD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 618825	NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1299829	NM_001009944.3(PKD1):c.3429C>T (p.Pro1143=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type	GLikely benign
Select item 811045	NM_001009944.3(PKD1):c.3380C>T (p.Pro1127Leu)	PKD1 (P1127L)	Single nucleotide variant (missense variant)	PKD1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 618285	NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)	PKD1 (L1106V)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 256945	NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 256934	NM_001009944.3(PKD1):c.2655C>T (p.Cys885=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 256932	NM_001009944.3(PKD1):c.2235C>G (p.Ala745=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 586256	NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu)	PKD1 (P731L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 256930	NM_001009944.3(PKD1):c.2039A>T (p.Tyr680Phe)	PKD1 (Y680F)	Single nucleotide variant (missense variant)	not specified	GBenign/Likely benign
Select item 997126	NM_001009944.3(PKD1):c.1281G>A (p.Ala427=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 997164	NM_001009944.3(PKD1):c.1202C>T (p.Ala401Val)	PKD1 (A401V)	Single nucleotide variant (missense variant)	PKD1-related disorder +1 more	GBenign/Likely benign
Select item 433942	NM_001009944.3(PKD1):c.603C>T (p.His201=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 995201	NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr)	PKD1 (A194T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign

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Items: 76