"Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aac - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1210261	NM_001009944.3(PKD1):c.12479C>T (p.Pro4160Leu)	PKD1 (P4159L +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +1 more	GUncertain significance
Select item 2413162	NM_001009944.3(PKD1):c.11741dup (p.Ala3915fs)	PKD1 (A3914fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2428759	NM_001009944.3(PKD1):c.11467_11480del (p.Leu3823fs)	PKD1, PKD1-AS1 (L3822fs +1 more)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 984987	NM_001009944.3(PKD1):c.11071dup (p.Asp3691fs)	PKD1, PKD1-AS1 (D3690fs +1 more)	Duplication (frameshift variant)	Polycystic kidney disease, adult type	GPathogenic
Select item 2428491	NM_001009944.3(PKD1):c.9513del (p.Thr3172fs)	PKD1 (T3172fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1210262	NM_001009944.3(PKD1):c.9428_9430dup (p.Tyr3143_Gly3144insAsp)	PKD1	Duplication (inframe_insertion)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1177302	NM_001009944.3(PKD1):c.6499A>G (p.Asn2167Asp)	PKD1 (N2167D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1299748	NM_001009944.3(PKD1):c.5254T>C (p.Trp1752Arg)	PKD1 (W1752R)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 2574673	NM_001009944.3(PKD1):c.4630G>A (p.Val1544Met)	PKD1 (V1544M)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GConflicting classifications of pathogenicity
Select item 1526404	NM_001009944.3(PKD1):c.1723-1G>C	PKD1	Single nucleotide variant (splice acceptor variant)	Polycystic kidney disease, adult type	GLikely pathogenic