"Institute of Human Genetics, Cologne University"[submitter] AND "PKD1 - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 267265	NM_001009944.3(PKD1):c.11900_11925delinsAAGCTAGTGA (p.Val3967fs)	PKD1 (V3966fs +1 more)	Indel (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 829953	NM_001009944.3(PKD1):c.11858T>C (p.Leu3953Pro)	PKD1, TSC2 (L3952P +1 more)	Single nucleotide variant (missense variant)	Tuberous sclerosis 2 +2 more	GUncertain significance
Select item 1328378	NM_001009944.3(PKD1):c.11453del (p.Gly3818fs)	PKD1, PKD1-AS1 (G3817fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 427741	NM_001009944.3(PKD1):c.10220+2_10220+3del	PKD1	Deletion (splice donor variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 1328376	NM_001009944.3(PKD1):c.9637T>A (p.Phe3213Ile)	PKD1 (F3213I)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 977792	NM_001009944.3(PKD1):c.9575G>T (p.Ser3192Ile)	PKD1 (S3192I)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 441260	NM_001009944.3(PKD1):c.8704C>T (p.Gln2902Ter)	PKD1 (Q2902*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 800491	NM_001009944.3(PKD1):c.8005del (p.Ala2669fs)	PKD1 (A2669fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 917865	NM_001009944.3(PKD1):c.7286T>G (p.Met2429Arg)	PKD1 (M2429R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 496638	NM_001009944.3(PKD1):c.7268C>A (p.Ser2423Tyr)	PKD1 (S2423Y)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1077158	NM_001009944.3(PKD1):c.6838G>A (p.Glu2280Lys)	PKD1 (E2280K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 427735	NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met)	PKD1 (V1996M)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 625859	NM_001009944.3(PKD1):c.5627C>G (p.Ser1876Ter)	PKD1 (S1876*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 433540	NM_001009944.3(PKD1):c.5021del (p.Pro1674fs)	PKD1 (P1674fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 447981	NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs)	PKD1 (R1389fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 433550	NM_001009944.3(PKD1):c.3503dup (p.Val1169fs)	PKD1 (V1169fs)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2501696	NM_001009944.3(PKD1):c.3218del (p.Glu1073fs)	PKD1 (E1073fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 427736	NM_001009944.3(PKD1):c.696T>G (p.Cys232Trp)	PKD1 (C232W)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1328380	NM_001009944.3(PKD1):c.218A>G (p.Asp73Gly)	PKD1 (D73G)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 427740	NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala)	PKD1 (P43A)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	Gother

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Items: 20