"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328006	NM_001009944.3(PKD1):c.12664C>T (p.Leu4222=)	PKD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 256919	NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile)	PKD1 (V4146I +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 256918	NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +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	GLikely benign
Select item 256907	NM_001009944.3(PKD1):c.11577G>T (p.Pro3859=)	PKD1, PKD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 256903	NM_001009944.3(PKD1):c.11537+3_11537+5dup	PKD1-AS1, PKD1	Duplication	not specified +2 more	GBenign/Likely benign
Select item 976834	NM_001009944.3(PKD1):c.11376G>C (p.Ser3792=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 256901	NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 256899	NM_001009944.3(PKD1):c.11316C>G (p.Ala3772=)	PKD1, PKD1-AS1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 1049593	NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser)	PKD1, PKD1-AS1 (A3551S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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)	not provided	GLikely benign
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 256886	NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu)	PKD1 (V3409L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1328000	NM_001009944.3(PKD1):c.10221-14C>T	PKD1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GLikely benign
Select item 997167	NM_001009944.3(PKD1):c.10168-8C>T	PKD1	Single nucleotide variant (intron variant)	PKD1-related disorder +2 more	GLikely benign
Select item 257047	NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=)	PKD1	Single nucleotide variant (synonymous variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 997252	NM_001009944.3(PKD1):c.9924-11C>T	PKD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 586309	NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +1 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)	not provided +1 more	GBenign/Likely benign
Select item 546087	NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del)	MIR6511B1, PKD1 (F2979del)	Microsatellite (inframe_deletion)	Polycystic kidney disease, adult type +3 more	GLikely pathogenic
Select item 257028	NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile)	PKD1 (V2905I)	Single nucleotide variant (missense variant)	not provided +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	GLikely benign
Select item 257021	NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg)	PKD1 (G2814R)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +2 more	GBenign/Likely benign
Select item 257020	NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 257018	NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 440127	NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 994020	NM_001009944.3(PKD1):c.8204A>T (p.Gln2735Leu)	PKD1 (Q2735L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 257011	NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met)	PKD1 (T2708M)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +2 more	GBenign/Likely benign
Select item 440103	NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val)	PKD1 (A2704V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 257010	NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 440141	NM_001009944.3(PKD1):c.8037A>G (p.Val2679=)	PKD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 257009	NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser)	PKD1 (P2674S)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 381477	NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr)	PKD1 (H2546Y)	Single nucleotide variant (missense variant)	not specified +3 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	GLikely benign
Select item 1284930	NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter)	PKD1 (Q2519*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 208710	NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)	PKD1 (R2516C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 257000	NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys)	PKD1 (R2477C)	Single nucleotide variant (missense variant)	not provided +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 997279	NM_001009944.3(PKD1):c.6915+14A>G	PKD1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1284922	NM_001009944.3(PKD1):c.6882C>T (p.Leu2294=)	PKD1	Single nucleotide variant (synonymous variant)	PKD1-related disorder +1 more	GLikely benign
Select item 447996	NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)	PKD1 (T2250M)	Single nucleotide variant (missense variant)	not provided +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)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 256990	NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys)	PKD1 (R2200C)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign/Likely benign
Select item 433973	NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln)	PKD1 (R2163Q)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 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	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 1049583	NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg)	PKD1 (P1928R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +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 1328019	NM_001009944.3(PKD1):c.5622G>A (p.Trp1874Ter)	PKD1 (W1874*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 256979	NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr)	PKD1 (A1871T)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GBenign/Likely benign
Select item 1256445	NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +1 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 +2 more	GBenign/Likely benign
Select item 256971	NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +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)	not specified	GLikely benign
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)	Polycystic kidney disease, adult type +2 more	GBenign/Likely benign
Select item 997160	NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +2 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 1328044	NM_001009944.3(PKD1):c.4475G>C (p.Arg1492Pro)	PKD1 (R1492P)	Single nucleotide variant (missense variant)	PKD1-related disorder	GUncertain significance
Select item 256962	NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg)	PKD1 (W1399R)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease +3 more	GBenign
Select item 256961	NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +2 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 +1 more	GBenign/Likely 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	GBenign
Select item 433958	NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del)	PKD1 (F1146del)	Deletion (inframe_deletion)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 997303	NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile)	PKD1 (V1144I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
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 618285	NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val)	PKD1 (L1106V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 256948	NM_001009944.3(PKD1):c.3296-15G>A	PKD1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 256938	NM_001009944.3(PKD1):c.2854-5C>T	PKD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 256936	NM_001009944.3(PKD1):c.2700G>A (p.Pro900=)	PKD1	Single nucleotide variant (synonymous variant)	not specified +3 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 803171	NM_001009944.3(PKD1):c.2216G>A (p.Arg739Gln)	PKD1 (R739Q)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GBenign
Select item 586256	NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu)	PKD1 (P731L)	Single nucleotide variant (missense variant)	Bladder exstrophy-epispadias-cloacal extrophy complex +2 more	GConflicting classifications of pathogenicity
Select item 487359	NM_001009944.3(PKD1):c.2109C>T (p.His703=)	PKD1	Single nucleotide variant (synonymous variant)	Polycystic kidney disease, adult type +1 more	GBenign/Likely benign
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 provided +2 more	GBenign/Likely benign
Select item 997164	NM_001009944.3(PKD1):c.1202C>T (p.Ala401Val)	PKD1 (A401V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely 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 specified +2 more	GBenign/Likely benign

ClinVar

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Items: 87