"Molecular Genetics, Royal Melbourne Hospital"[submitter] AND "PKD1"[g - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1678551	NM_001009944.3(PKD1):c.12445-17_12445-3del	MIR1225, PKD1	Deletion (non-coding transcript variant +1 more)	Polycystic kidney disease, adult type	GUncertain significance
Select item 972880	NM_001009944.3(PKD1):c.12326_12335del (p.Arg4109fs)	PKD1 (R4109fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 3068690	NM_001009944.3(PKD1):c.11927G>T (p.Ser3976Ile)	PKD1 (S3975I +1 more)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 8201	NM_001009944.3(PKD1):c.11457C>A (p.Tyr3819Ter)	PKD1, PKD1-AS1 (Y3818* +1 more)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic kidney disease +1 more	GPathogenic
Select item 3068584	NM_001009944.3(PKD1):c.9505C>T (p.Arg3169Trp)	PKD1 (R3169W)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 3068662	NM_001009944.3(PKD1):c.8603C>G (p.Ser2868Ter)	PKD1 (S2868*)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 374097	NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)	PKD1 (E2771K)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 977080	NM_001009944.3(PKD1):c.8224G>A (p.Glu2742Lys)	PKD1 (E2742K)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type +2 more	GConflicting classifications of pathogenicity
Select item 3068707	NM_001009944.3(PKD1):c.7721_7724del (p.Leu2574fs)	PKD1 (L2574fs)	Deletion (frameshift variant)	Autosomal dominant polycystic kidney disease	GLikely pathogenic
Select item 3068611	NM_001009944.3(PKD1):c.6856dup (p.Leu2286fs)	PKD1 (L2286fs)	Duplication (frameshift variant)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 1676237	NM_001009944.3(PKD1):c.6384C>G (p.Asn2128Lys)	PKD1 (N2128K)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 1678608	NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter)	PKD1 (Q2039*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type +1 more	GPathogenic
Select item 3068567	NM_001009944.3(PKD1):c.4049C>T (p.Thr1350Met)	PKD1 (T1350M)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 997406	NM_001009944.3(PKD1):c.3728G>A (p.Trp1243Ter)	PKD1 (W1243*)	Single nucleotide variant (nonsense)	Autosomal dominant polycystic kidney disease +1 more	GPathogenic
Select item 972848	NM_001009944.3(PKD1):c.2289_2299del (p.Cys767fs)	PKD1 (C767fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1678559	NM_001009944.3(PKD1):c.2038T>G (p.Tyr680Asp)	PKD1 (Y680D)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 3068665	NM_001009944.3(PKD1):c.1673C>T (p.Thr558Met)	PKD1 (T558M)	Single nucleotide variant (missense variant)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 636617	NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)	PKD1 (A432V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3068590	NM_001009944.3(PKD1):c.529+5G>A	PKD1	Single nucleotide variant (intron variant)	Autosomal dominant polycystic kidney disease	GUncertain significance