"Department of Human Genetics, Hannover Medical School"[submitter] AND - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1702950	NM_001009944.3(PKD1):c.12766G>A (p.Ala4256Thr)	PKD1 (A4255T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 636966	NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln)	MIR1225, PKD1 +2 more (R3750Q +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GConflicting classifications of pathogenicity
Select item 930406	NM_001009944.3(PKD1):c.9202-16G>A	PKD1	Single nucleotide variant (intron variant)	Polycystic kidney disease 2 +2 more	GConflicting classifications of pathogenicity
Select item 3062015	NM_001009944.3(PKD1):c.8909del (p.Gly2970fs)	PKD1 (G2970fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2429346	NM_001009944.3(PKD1):c.8606_8607del (p.Glu2869fs)	PKD1 (E2869fs)	Microsatellite (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 2577021	NM_001009944.3(PKD1):c.8016+1G>A	PKD1	Single nucleotide variant (splice donor variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1301197	NM_001009944.3(PKD1):c.7622C>T (p.Pro2541Leu)	PKD1 (P2541L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3024074	NM_001009944.3(PKD1):c.5478G>A (p.Trp1826Ter)	PKD1 (W1826*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 1707482	NM_001009944.3(PKD1):c.3777_3778del (p.Val1260fs)	PKD1 (V1260fs)	Deletion (frameshift variant)	Polycystic kidney disease, adult type	GLikely pathogenic
Select item 3341087	NM_001009944.3(PKD1):c.1606+5G>T	PKD1	Single nucleotide variant (intron variant)	Polycystic kidney disease, adult type	GLikely pathogenic